1. Abstracts for the American Academy for Cerebral Palsy and Developmental Medicine 21-24 September 2022. Dev Med Child Neurol;2022 (Sep);64 Suppl 4:3-138.

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2. Autism 101 Commentaries. Autism Res;2022 (Sep 6)

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3. Abolghasemi A, Carullo MP, Aguilera EC, Laroui A, Plantefeve R, Rojas D, Benachenhou S, Ramírez MV, Proteau-Lemieux M, Lepage JF, Corbin F, Plourde M, Farez M, Cogram P, Çaku A. Alteration of Fatty Acid Profile in Fragile X Syndrome. Int J Mol Sci;2022 (Sep 16);23(18)

Fragile X Syndrome (FXS) is the most prevalent monogenic cause of Autism Spectrum Disorders (ASDs). Despite a common genetic etiology, the affected individuals display heterogenous metabolic abnormalities including hypocholesterolemia. Although changes in the metabolism of fatty acids (FAs) have been reported in various neuropsychiatric disorders, it has not been explored in humans with FXS. In this study, we investigated the FA profiles of two different groups: (1) an Argentinian group, including FXS individuals and age- and sex-matched controls, and (2) a French-Canadian group, including FXS individuals and their age- and sex-matched controls. Since phospholipid FAs are an indicator of medium-term diet and endogenous metabolism, we quantified the FA profile in plasma phospholipids using gas chromatography. Our results showed significantly lower levels in various plasma FAs including saturated, monosaturated, ω-6 polyunsaturated, and ω-3 polyunsaturated FAs in FXS individuals compared to the controls. A decrease in the EPA/ALA (eicosapentaenoic acid/alpha linoleic acid) ratio and an increase in the DPA/EPA (docosapentaenoic acid/eicosapentaenoic acid) ratio suggest an alteration associated with desaturase and elongase activity, respectively. We conclude that FXS individuals present an abnormal profile of FAs, specifically FAs belonging to the ω-3 family, that might open new avenues of treatment to improve core symptoms of the disorder.

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4. Abomelha FM, AlDhalaan H, Ghaziuddin M, Al-Tassan NA, Al-Mubarak BR. Autism and ADHD in the Era of Big Data; An Overview of Digital Resources for Patient, Genetic and Clinical Trials Information. Genes (Basel);2022 (Aug 28);13(9)

Even in the era of information « prosperity » in the form of databases and registries that compile a wealth of data, information about ASD and ADHD remains scattered and disconnected. These data systems are powerful tools that can inform decision-making and policy creation, as well as advancing and disseminating knowledge. Here, we review three types of data systems (patient registries, clinical trial registries and genetic databases) that are concerned with ASD or ADHD and discuss their features, advantages and limitations. We noticed the lack of ethnic diversity in the data, as the majority of their content is curated from European and (to a lesser extent) Asian populations. Acutely aware of this knowledge gap, we introduce here the framework of the Neurodevelopmental Disorders Database (NDDB). This registry was designed to serve as a model for the national repository for collecting data from Saudi Arabia on neurodevelopmental disorders, particularly ASD and ADHD, across diverse domains.

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5. Adıgüzel E, Çiçek B, Ünal G, Aydın MF, Barlak-Keti D. Probiotics and prebiotics alleviate behavioral deficits, inflammatory response, and gut dysbiosis in prenatal VPA-induced rodent model of autism. Physiol Behav;2022 (Nov 1);256:113961.

Autism spectrum disorders are neuropsychiatric conditions characterized by social interaction and communication disorders and repetitive stereotypical behaviors. These disorders are also accompanied by an inflammatory status. Bidirectional communication between microbiome, gut, and brain has been discovered as a major mechanism influencing core symptoms and biomarkers of autism. Therefore, the modulation of the gut microbiota in autism has recently attracted interest. In this study, probiotic- and prebiotic-mediated modulation of the gut microbiota was compared in terms of different symptoms and findings in an experimental autism model. Valproic acid (VPA) (500 mg/kg) was administered to Wistar rats (on prenatal day 12.5) to induce autistic-like behaviors. Based on the supply of probiotics and prebiotics, animals were grouped as control (saline), autistic-like (prenatal VPA), probiotic (prenatal VPA + 22.5 × 10(9) cfu/day probiotic), prebiotic (prenatal VPA + 100 mg/day prebiotic), and combined treatment (prenatal VPA + 22.5 × 10(9) cfu/day probiotic + 100 mg/day prebiotic). After the treatment process, behavioral tests (social behaviors, anxiety, stereotypical behavior, sensorimotor gating, and behavioral despair) and biochemical analyses (serum and brain tissue) were conducted, and the quantities of some phyla and genera were determined in stool samples. Significant positive effects of probiotic and combined treatments were observed on the sociability, social interaction, and anxiety parameters. In addition, all three treatments had positive effects on stereotypical behavior. However, the treatments did not affect sensorimotor gating deficits and behavioral despair. Further, probiotic treatment reversed the VPA-induced increase and decrease in serum IL-6 and IL-10 levels, respectively. Combined treatment also significantly increased the IL-10 levels. Prenatal VPA exposure decreased 5-hydroxytryptamine (5-HT) levels in the prefrontal cortex of the brain; however, combined treatment reversed this decrease. Prenatal VPA exposure also caused a decrease in Bacteroidetes/Firmicutes ratio in the gut microbiota, while the probiotic treatment significantly increased this ratio. These findings indicate that probiotic- and prebiotic-mediated microbial modulation may represent a new therapeutic approach to alleviate autistic-like symptoms.

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6. Agarwal R, Wuyke G, Sharma U, Burke SL, Howard M, Li T, Sanchez M, Bastida E. Stress and Anxiety Among Parents of Transition-Aged Children with Autism Spectrum Disorder: a Systematic Review of Interventions and Scales. Rev J Autism Dev Disord;2022 (Sep 1):1-23.

The period between adolescence to young adulthood can be stressful for parents of transition-aged children (14 to 22 years old) with autism spectrum disorder. A systematic review was undertaken to examine if existing interventions address the unique parental stressors of this phase and if the scales used to measure parental stress and anxiety are suitable for this group. Of the 9813 studies screened, only 13 studies met the inclusion criteria. Findings indicated that interventions focused on mindfulness, social functioning, or multiple components, of which only two addressed the transition period and only three specifically targeted parents of this age group. Moreover, of the six scales which assessed stress or anxiety, none were designed for these parents. Findings highlight the urgent need for more suitable scales and targeted interventions.

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7. Ahn K, Norman LJ, Justice CM, Shaw P. ADHD and its neurocognitive substrates: A two sample Mendelian randomization study. Transl Psychiatry;2022 (Sep 9);12(1):378.

Attention-deficit/hyperactivity disorder (ADHD) is associated with a wide array of neural and cognitive features, and other psychiatric disorders, identified mainly through cross-sectional associations studies. However, it is unclear if the disorder is causally associated with these neurocognitive features. Here, we applied a two-sample bidirectional Mendelian randomization (MR) study to summary GWAS data to explore the presence and direction of a causal effect between ADHD and a range of neurocognitive features and other psychiatric disorders. The inverse variance weighted method was used in the main analysis, and two MR methods (MR-Egger, weighted median) were used for robustness checks. We found that genetic risk for ADHD was causally associated with a decreased area of lateral orbitofrontal cortex. Conversely, we found that brain volume and some features of intrinsic functional connectivity had causal effects on ADHD risk. Bidirectional causal links were found between ADHD and adult general intelligence, as well as depression and autistic spectrum disorders. Such work highlights the important ties between ADHD and general cognitive ability, and suggest some neural features, previously merely associated with the disorder, may play a causal role in its pathogenesis.

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8. Akin-Bulbul I, Ozdemir S. Imitation Performance in Children with Autism and the Role of Visual Attention in Imitation. J Autism Dev Disord;2022 (Sep 9)

In this study, we examined imitation performance, visual attention, and the relationship between imitation and visual attention of children with autism, developmental delay (DD), and typically developing (TD) children. The study findings revealed that children with autism and DD imitated less than TD children in all imitation tasks. Results also showed that children with autism spent less time looking at the model’s face and movement area and more time looking at the external area. Lastly, the relationship between imitation and visual attention separated the study groups. The findings of the study provided new evidence that visual attention to movement area in children with autism was positively related to imitation performance in non-meaningful gestures.

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9. Al Jaffal M. Barriers general education teachers face regarding the inclusion of students with autism. Front Psychol;2022;13:873248.

As the number of students diagnosed with autism spectrum disorder (ASD) present in general education (GE) classrooms has increased in the past few decades, GE teachers must adapt to meet the needs of these students. Laws and regulations require students with ASD to be educated in the least restrictive environment, as well as that they be instructed by the teachers who were qualified to teach them. Unfortunately, GE teachers face the challenges supporting students with ASD in GE settings. This qualitative research investigates the barriers that prevent teachers from successfully implementing an inclusive environment in the GE classroom. In total, four elementary school teachers at a school in the northeast of the United States were interviewed and observed. The data were analyzed to identify emerging themes. The findings showed that GE teachers lack training in how to work with students with ASD in their GE classrooms, lack collaboration opportunities with their special education colleagues to better support their students with ASD, and are not provided sufficient resources by their schools and programs to create an appropriate inclusive environment in their GE classrooms. Based on these findings, certain improvements in professional development offerings for in-service general educators on how to teach students with ASD are recommended, such as providing broader training programs that give teachers the opportunity to practice interventions and teaching plans for inclusive classrooms and receive feedback from the training instructor(s). Furthermore, certain additions to the curriculum of pre-service university education programs for GE teachers are suggested. In addition, the research found that schools must make certain resources, including technology, available to GE teachers to meet the requirements of United States law regarding educating students with disabilities, including ASD, in the least restrictive environment, which is the GE classroom.

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10. Alaerts K, Bernaerts S, Wenderoth N. Effects of single- and multiple-dose oxytocin treatment on amygdala low-frequency BOLD fluctuations and BOLD spectral dynamics in autism. Transl Psychiatry;2022 (Sep 20);12(1):393.

Prior neuroimaging clinical trials investigating the neural effects of intranasal administration of the neuropeptide oxytocin demonstrated a key role of the amygdala in oxytocin’s neuromodulatory effects. These studies mostly demonstrated the acute effects of single-dose administrations, examining task-dependent effects of oxytocin on brain activity elicited during explicit experimental tasks or stimuli presentations. The increased consideration of oxytocin as a potential ameliorating treatment in autism spectrum disorder (ASD) requires a better understanding of how multiple-dose oxytocin administration affects intrinsic, task-free, amygdala function. In this double-blind, randomized, placebo-controlled trial with between-subject design, 38 adult men with ASD underwent resting-state fMRI scanning before and after oxytocin or placebo treatment. Effects were assessed either after a single-dose administration, consisting of 24 international units, or after multiple-dose treatment, consisting of 4 weeks of once-daily nasal spray administrations. Compared to placebo, oxytocin induced a decrease in intrinsic resting-state BOLD signal amplitudes of the bilateral amygdala (fractional amplitudes of low-frequency fluctuations) and modulated cross-frequency interactions between adjacent BOLD frequency components. The right amygdala showed a pattern of reduced cross-frequency harmonicity, while the left amygdala showed a relative increase in harmonic cross-frequency interactions after oxytocin treatment. Notably, the direction and magnitude of BOLD spectral changes induced after a single-dose were qualitatively similar to treatment effects induced after multiple-dose treatment. Furthermore, the identified spectral changes in amygdalar BOLD amplitude and cross-frequency harmonicity were associated with improved feelings of tension, reflecting oxytocin’s anxiolytic, stress-reducing neuromodulatory role. The observed effects of oxytocin on amygdalar BOLD spectral characteristics and associated behaviors contribute to a deeper mechanistic understanding of the intrinsic, task-free neuromodulatory dynamics that underlie single- and multiple-dose oxytocin treatment in ASD. European Clinical Trial Registry (Eudract 2014-000586-45).

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11. Alenezi S, Alyahya AS, AlKhalifah SM, Bakhsh HR, Alismail EH, Aldhalaan H, Alwazna T, Alzrayer N, AlSuwailem SS, Alnemary F, AlAnsari AMS, Alqulaq EI, Alyamani A, Amer YS, Albawardi IM, Albalawi WM, Alhassan MA, Algazlan MS, Alramady M, Ad-Dab’bagh Y. Saudi Expert Consensus-Based Autism Spectrum Disorder Statement: From Screening to Management. Children (Basel);2022 (Aug 23);9(9)

BACKGROUND: There is a large gap between the needs of individuals diagnosed with autism spectrum disorder (ASD) and the currently available services in Saudi Arabia. Services are often difficult to access, inconsistent in quality, incomplete, unsatisfactory, and costly. As such, there is a national need for expert consensus on the appropriate standards for the assessment and management of children on the autism spectrum. METHODOLOGY: A guideline development group (GDC) was formed by professionals representing all related specialties and institutions involved in the management of individuals on the autism spectrum in Saudi Arabia. They met on a regular basis over 21 months. The guideline development process consisted of five steps starting from reviewing existing guidelines and ending with discussing and writing this manuscript. A formal voting process was utilized and recommendations were discussed until a consensus was reached. RESULTS: There was consensus on the following: A specialized diagnostic assessment needs to be carried out by an experienced multidisciplinary team for children referred to assess for ASD. They should be assessed for medical etiology, their behavioral history carefully reviewed, and symptoms directly observed. Longitudinal assessments are encouraged to reflect the effects of symptoms on the individual’s ability to function while with their family, among peers, and in school settings. An additional formal assessment of language, cognitive, and adaptive abilities as well as sensory status is essential to complete the diagnostic process. Interventions should be individualized, developmentally appropriate, and intensive, with performance data relevant to intervention goals to evaluate and adjust interventions. Target symptoms must be identified to address and develop monitoring systems to track change. CONCLUSION: ASD is a complex condition with widely varying clinical manifestations, thus requiring evaluation and intervention by a range of professionals working in coordination. Behavioral and environmental interventions are the key to optimal outcomes, in conjunction with medications when indicated for specific symptoms. Parental involvement in interventions is vital to sustaining therapeutic gains.

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12. Alonazi M, Ben Bacha A, Al Suhaibani A, Almnaizel AT, Aloudah HS, El-Ansary A. Psychobiotics improve propionic acid-induced neuroinflammation in juvenile rats, rodent model of autism. Transl Neurosci;2022 (Jan 1);13(1):292-300.

This study aimed to evaluate the protective and therapeutic potency of bee pollen and probiotic mixture on brain intoxication caused by propionic acid (PPA) in juvenile rats. Five groups of six animals each, were used: the control group only receiving phosphate-buffered saline; the bee pollen and probiotic-treated group receiving a combination of an equal quantity of bee pollen and probiotic (0.2 kg/kg body weight); the PPA group being treated for 3 days with an oral neurotoxic dose of PPA (0.25 kg/kg body weight); the protective and therapeutic groups receiving bee pollen and probiotic mixture treatment right before and after the neurotoxic dose of PPA, respectively. The levels of interleukin (IL)-1ß, IL-6, IL-8, IL-10, IL-12, tumor necrosis factor α, and interferon γ (IFN-γ) were investigated to evaluate the neuroinflammatory responses in brain tissues from different animal groups. The much higher IL-1β, IL-8, and IFN-γ, as pro-inflammatory cytokines (P < 0.001), together with much lower IL-10, as anti-inflammatory cytokine (P < 0.001) compared to controls clearly demonstrated the neurotoxic effects of PPA. Interestingly, the mixture of bee pollen and probiotics was effective in alleviating PPA neurotoxic effects in both therapeutic and protective groups demonstrating highly significant changes in IL-1β, IL-8, IL-10, and IFN-γ levels together with non-significant reduction in IL-6 levels compared to PPA-treated rats. Overall, our findings demonstrated a new approach to the beneficial use of psychobiotics presenting as bee pollen and probiotic combination in neuroinflammation through cytokine changes as a possible role of glial cells in gut-brain axis.

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13. Angrand L, Masson JD, Rubio-Casillas A, Nosten-Bertrand M, Crépeaux G. Inflammation and Autophagy: A Convergent Point between Autism Spectrum Disorder (ASD)-Related Genetic and Environmental Factors: Focus on Aluminum Adjuvants. Toxics;2022 (Aug 31);10(9)

Autism spectrum disorder (ASD), schizophrenia, and bipolar disorder are genetically complex and heterogeneous neurodevelopmental disorders (NDDs) resulting from genetic factors and gene-environment (GxE) interactions for which onset occurs in early brain development. Recent progress highlights the link between ASD and (i) immunogenetics, neurodevelopment, and inflammation, and (ii) impairments of autophagy, a crucial neurodevelopmental process involved in synaptic pruning. Among various environmental factors causing risk for ASD, aluminum (Al)-containing vaccines injected during critical periods have received special attention and triggered relevant scientific questions. The aim of this review is to discuss the current knowledge on the role of early inflammation, immune and autophagy dysfunction in ASD as well as preclinical studies which question Al adjuvant impacts on brain and immune maturation. We highlight the most recent breakthroughs and the lack of epidemiological, pharmacokinetic and pharmacodynamic data constituting a « scientific gap ». We propose additional research, such as genetic studies that could contribute to identify populations at genetic risk, improving diagnosis, and potentially the development of new therapeutic tools.

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14. Ani C, Ayyash HF, Ogundele MO. Community paediatricians’ experience of joint working with child and adolescent mental health services: findings from a British national survey. BMJ Paediatr Open;2022 (Apr);6(1)

OBJECTIVES: Children and young people (CYP) presenting to paediatric or child and adolescent mental health services (CAMHS) often have needs spanning medical and psychiatric diagnoses. However, joint working between paediatrics and CAMHS remains limited. We surveyed community paediatricians in the UK to inform better strategies to improve joint working with CAMHS. METHODS: We conducted an online survey of community paediatricians through the British Association for Community Child Health (BACCH) on how much joint working they experienced with CAMHS, any hindrances to more collaborative working, and the impact on service users and service provision. This paper is based on thematic analysis of 327 free-text comments by paediatricians. RESULTS: A total of 245 community paediatricians responded to the survey (22% of BACCH members). However, some responses were made on behalf of teams rather than for individual paediatricians. The following were the key themes identified: a strong support for joint working between community paediatrics and CAMHS; an acknowledgement that current levels of joint working were limited; the main barriers to joint working were splintered commissioning and service structures (eg, where integrated care systems fund different providers to meet overlapping children’s health needs); and the most commonly reported negative impact of non-joint working was severely limited access to CAMHS for CYP judged by paediatricians to require mental health support, particularly those with autism spectrum disorder. CONCLUSION: There is very limited joint working between community paediatrics and CAMHS in the UK, which is associated with many adverse impacts on service users and providers. A prointegration strategy that includes joint commissioning of adequately funded paediatric and CAMHS services that are colocated and within the same health management organisations is crucial to improving joint working between paediatrics and CAMHS.

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15. Anne A, Saxena S, Mohan KN. Genome-wide methylation analysis of post-mortem cerebellum samples supports the role of peroxisomes in autism spectrum disorder. Epigenomics;2022 (Sep 26)

Aim: We tested the hypothesis that a subset of patients with autism spectrum disorder (ASD) contains candidate genes with high DNA methylation differences (effective values) that potentially affect one of the two alleles. Materials & methods: Genome-wide DNA methylation comparisons were made on cerebellum samples from 30 patients and 45 controls. Results: 12 genes with high effective values, including GSDMD, MMACHC, SLC6A5 and NKX6-2, implicated in ASD and other neuropsychiatric disorders were identified. Monoallelic promoter methylation and downregulation were observed for SERHL (serine hydrolase-like) and CAT (catalase) genes associated with peroxisome function. Conclusion: These data are consistent with the hypothesis implicating impaired peroxisome function/biogenesis for ASD. A similar approach holds promise for identifying rare epimutations in ASD and other complex disorders.

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16. Arnell S, Jerlinder K, Lundqvist LO. Feasibility of Using Q-Sort to Map Conditional Participation in Physical Activity in Adolescents With Autism Spectrum Disorder. Adapt Phys Activ Q;2022 (Sep 16):1-23.

BACKGROUND: Participation in physical activity among adolescents with autism is often conditional. However, there is a lack of methods for identifying these specific conditions. Therefore, the purpose of this study was to develop and investigate the feasibility of a Q-sort tool to map individual-specific conditions for participation in physical activity among adolescents with autism and to identify different viewpoints regarding conditions for such participation. METHOD: An exploratory mixed-methods design was employed to investigate the feasibility of using Q methodology and the Q-sort procedure to identify what individual-specific conditions are important for participation in physical activity for adolescents with autism. RESULTS: The adolescents ranked the statements with varying levels of ease. Two viewpoints were identified: Autonomous participation without surprises and Enjoyment of activity in a safe social context. CONCLUSION: Q-sort is a feasible method for mapping conditions for participation, which can guide the development of tailored physical activity interventions.

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17. Arroyo HA. [Environmental factors influencing developmental disorders]. Medicina (B Aires);2022 (Aug 30);82 Suppl 3:35-39.

Neurodevelopmental disorders have been associated with multiple causes especially, genetic a nd environmental -nutritional, infectious, toxic, traumatic and psychosocial stress among others- that in general do not operate alone, but interact with each other. Of special interest is to identify the mechanism(s) that lead to these disorders. Inflammation and epigenetic changes may play a common end for many forms of environmental risk.

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18. Arthur T, Brosnan M, Harris D, Buckingham G, Wilson M, Williams G, Vine S. Investigating how Explicit Contextual Cues Affect Predictive Sensorimotor Control in Autistic Adults. J Autism Dev Disord;2022 (Sep 5)

Research suggests that sensorimotor difficulties in autism could be reduced by providing individuals with explicit contextual information. To test this, we examined autistic visuomotor control during a virtual racquetball task, in which participants hit normal and unexpectedly-bouncy balls using a handheld controller. The probability of facing each type of ball was varied unpredictably over time. However, during cued trials, participants received explicit information about the likelihood of facing each uncertain outcome. When compared to neurotypical controls, autistic individuals displayed poorer task performance, atypical gaze profiles, and more restricted swing kinematics. These visuomotor patterns were not significantly affected by contextual cues, indicating that autistic people exhibit underlying differences in how prior information and environmental uncertainty are dynamically modulated during movement tasks.

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19. Attar SM, Ibanez LV, Stone WL. Separate scoring algorithms for specific identification priorities optimize the screening properties of the Screening Tool for Autism in Toddlers (STAT). Autism Res;2022 (Sep 8)

The Screening Tool for Autism in Toddlers (STAT) is a validated stage-2 autism spectrum disorder (ASD) screening measure that takes 20 minutes to administer and comprises 12 play-based items that are scored according to specific criteria. This study examines an expanded version (STAT-E) that includes the examiner’s subjective ratings of children’s social engagement (SE) and atypical behaviors (AB) in the scoring algorithm. The sample comprised 238 children who were 24-35 months old. The STAT-E assessors had limited ASD experience to mimic its use by community-based non-specialists, and were trained using a scalable web-based platform. A diagnostic evaluation was completed by clinical experts who were blind to the STAT-E results. Logistic regression, ROC curves, and classification matrices and metrics were used to determine the screening properties of STAT-E when scored using the original STAT scoring algorithm versus a new algorithm that included the SE and AB ratings. Inclusion of the SE and AB ratings improved positive risk classification appreciably, while the specificity declined. These results suggest that the STAT-E using the original STAT scoring algorithm optimizes specificity, while the STAT-E scoring algorithm with the two new ratings optimizes the positive risk classification. Using multiple scoring algorithms on the STAT may provide improved screening accuracy for diverse contexts, and a scalable web-based tutorial may be a pathway for increasing the number of community providers who can administer the STAT and contribute toward increased rates of autism screening. LAY SUMMARY: Detecting autism in young children allows for timely access to specialized early intervention services. A new scoring system that incorporates two new ratings for the Screening Tool for Autism in Toddlers (STAT) significantly increased the number of children correctly identified at ASD risk when administered by novice STAT assessors who were trained using a web-based tutorial. Using web-based training and non-expert providers has the potential to increase the number of community providers who can administer the STAT and contribute toward increased rates of ASD screening and service access.

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20. Baker JK, Fenning RM, Erath SA, Fabian S. Parasympathetic withdrawal indexes risk for emotion dysregulation in children with autism spectrum disorder. Autism Res;2022 (Sep 10)

Children with autism spectrum disorder (ASD) experience significant difficulties with emotion regulation. Theory and empirical evidence suggest substantial biological contributions to regulatory challenges, which may be related to core ASD symptoms. Respiratory sinus arrythmia (RSA) is a measure of parasympathetic nervous system activity that serves as a putative biomarker for emotion regulation. Higher baseline RSA and more RSA reactivity (parasympathetic withdrawal; RSA-R) in response to challenge appear adaptive in non-clinical populations, but existing evidence for children with ASD remains inconclusive. The current study examined correlates of observed emotion dysregulation in 61 children with ASD between the ages of 6 and 10 years, including ASD symptom levels as well as both baseline RSA and concurrent RSA reactivity. Consistent with previous research, ASD symptom level was significantly correlated with observed dysregulation whereas additional factors such as child IQ were not. Baseline RSA was unrelated to observed dysregulation, but higher RSA reactivity predicted concurrent dysregulation above and beyond the contribution of child ASD symptoms. Findings contribute to an emerging understanding of dysregulation in these children, raise questions about the utility of traditional baseline RSA measures for this population, and clarify the functional significance of RSA reactivity as a risk factor for emotion dysregulation in children with ASD. LAY SUMMARY: Children with autism spectrum disorder (ASD) are at high risk for emotion dysregulation. This study identifies core ASD symptom level as important to understanding regulatory challenges, and suggests that certain biological arousal processes (e.g., the « freeing » of regulatory control to meet a challenge) may operate in a different way for this population as compared to what is generally observed for most children with neurotypical development.

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21. Balakireva EE, Zvereva NV, Koval-Zaitsev AA, Nikitina SG, Blinova TE, Kulikov AV. [Eating behavior in children with autism spectrum disorder]. Zh Nevrol Psikhiatr Im S S Korsakova;2022;122(9. Vyp. 2):42-45.

OBJECTIVE: To study atypical eating behavior (AEB) in various variants of autism spectrum disorder (ASD) to determine the prognosis and therapeutic tactics. MATERIAL AND METHODS: One hundred and eighty patients (110 girls, 70 boys), aged 2 to 5 years (mean age 4 years), with a diagnosis of «Childhood autism» (F84.02), «Atypical autism» (F84.1), «Asperger Syndrome» (F84.5) and the presence of AEB were examined. RESULTS: Three clinical variants of ASD accompanied by AEB were identified: catatonic-regressive (n=75, 41%), catatonic (n=81, 45%) and hyperdynamic (n=24, 13%). The most pronounced AEB were in the catatonic-regressive variant, and the least in the hyperdynamic variant of ASD. The severity of AEB is associated with the severity of cognitive dysontogenesis. CONCLUSION: The characteristics of AEB are associated with the leading clinical syndrome of ASD. The severity of catatonia and regression affects the depth of AEB, which leads to secondary somatic disorders. Specialists of various profiles should participate in medical work for successful rehabilitation and prevention of somatic complications.

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22. Bamgboye MA, Herold KG, Vieira DCO, Traficante MK, Rogers PJ, Ben-Johny M, Dick IE. CaV1.2 channelopathic mutations evoke diverse pathophysiological mechanisms. J Gen Physiol;2022 (Nov 7);154(11)

The first pathogenic mutation in CaV1.2 was identified in 2004 and was shown to cause a severe multisystem disorder known as Timothy syndrome (TS). The mutation was localized to the distal S6 region of the channel, a region known to play a major role in channel activation. TS patients suffer from life-threatening cardiac symptoms as well as significant neurodevelopmental deficits, including autism spectrum disorder (ASD). Since this discovery, the number and variety of mutations identified in CaV1.2 have grown tremendously, and the distal S6 regions remain a frequent locus for many of these mutations. While the majority of patients harboring these mutations exhibit cardiac symptoms that can be well explained by known pathogenic mechanisms, the same cannot be said for the ASD or neurodevelopmental phenotypes seen in some patients, indicating a gap in our understanding of the pathogenesis of CaV1.2 channelopathies. Here, we use whole-cell patch clamp, quantitative Ca2+ imaging, and single channel recordings to expand the known mechanisms underlying the pathogenesis of CaV1.2 channelopathies. Specifically, we find that mutations within the S6 region can exert independent and separable effects on activation, voltage-dependent inactivation (VDI), and Ca2+-dependent inactivation (CDI). Moreover, the mechanisms underlying the CDI effects of these mutations are varied and include altered channel opening and possible disruption of CDI transduction. Overall, these results provide a structure-function framework to conceptualize the role of S6 mutations in pathophysiology and offer insight into the biophysical defects associated with distinct clinical manifestations.

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23. Bearss K, Kim SJ, Locke J. Accessible, Equitable, and Personalized Care for Autistic Individuals. J Clin Med;2022 (Sep 3);11(17)

When it comes to service accessibility for autistic individuals, there exists a pipeline problem […].

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24. Bertoletti ACC, Peres KK, Faccioli LS, Vacci MC, Mata IRD, Kuyven CJ, Bosco SMD. Early exposure to agricultural pesticides and the occurrence of autism spectrum disorder: a systematic review. Rev Paul Pediatr;2022;41:e2021360.

OBJECTIVE: The aim of this study was to evaluate the influence of early exposure to agricultural pesticides and their relationship with autism spectrum disorder. DATA SOURCE: This systematic review was registered at PROSPERO as CRD42020204842. The subject was systematically analyzed on PubMed, Scopus, and Web of Science databases until April 2021. Only studies with humans with early exposure to agricultural pesticides and diagnosis of autism were included. Exclusion criteria were studies on pesticides for domestic or veterinary use and late exposure. There were no language and time restriction. The quality analysis of the studies used the Newcastle-Ottawa Scale. DATA SYNTHESIS: Six case-control studies were included; three of them measured the route of exposure by maternal biomarkers and the others by the residence address. The studies had scores between moderate and high in the quality assessment tool. It was found high rates of association between early exposure to agricultural pesticides and autism and detection limit above the quantification for a sample of polychlorinated biphenyls, hexachlorobenzene, and dichlorodiphenyldichloroethylene. CONCLUSIONS: There is evidence concerning the exposure to agricultural pesticides in early life and the development of the autism spectrum disorder; however, more studies are required to better understand their possible association.

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25. Bharat R, Uzaina U, Yadav T, Niranjan S, Kurade P. mHealth apps delivering early intervention to support parents of children with autism: a scoping review protocol. BMJ Paediatr Open;2022 (May);6(1)

OBJECTIVE: This review aims to identify the mhealth apps delivering early intervention to support parents of children with autism spectrum disorders (ASD). We aim to explore the concept, context and methodology of implementation that is, theoretical framework, feasibility, quality of evidence, for such apps. BACKGROUND: To improve outcomes for children with autism, early intervention has been found to be promising. Parental training, parent psychoeducation and parent-mediated intervention are regarded as the gold standard, to achieve early childhood development goals. Digital health technologies like tele-health, web-based services, have been used to deliver this at a reduced cost. There is little evidence about their use and efficacy in empowering parents of children with ASD. INCLUSION CRITERIA: The studies reporting the use of mhealth apps to support parents of children with ASD, in community settings, school settings, special schools, clinics, hospitals or child development centres. There will be no exclusion based on region, gender or sociocultural factors. The types of studies included will be quantitative, qualitative, mixed-methods study designs, case reports, grey literature, systematic reviews, clinical trials and studies reporting feasibility of digital mhealth applications. METHOD: Using the NICE Healthcare Databases Advanced Search, we will search the following databases: MEDLINE, PUBMED, CINAHL, EMBASE, PsycINFO, Cochrane Library, EbscoHost, Sabinet, SAGE Journals, Directory of Open Access Journals, BioMed Central, Scopus, ScienceDirect. Furthermore, grey literature will be searched through Google Scholar, ShodhGanga, JSTOR, CORE, EBSCO, DOAJ, BASE. The searches will be limited to the age range of children between 2 and 6 years with ASD, and the date range is from the inception of the database to the current date. The terms for the ASD will be combined with terms for parent, early intervention and digital mhealth to identify eligible studies.

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26. Bishop JC, Nichols C, Kranz S, Lukacs JK, Block ME. Determinants of physical activity of transitioning adult children with Autism Spectrum Disorder. Heliyon;2022 (Aug);8(8):e10150.

Many young adults on the autism spectrum do not attain the recommended minimum weekly amount of moderate to vigorous physical activity (MVPA) to prevent significant health risks. Autism symptoms as well as environmental factors may play a key role in the physical activity (PA) behaviors of young adults on the autism spectrum. The socioecological model (SEM) has been previously used to identify determinants of PA among people within many disability categories. AIMS: Explore the overall relationship between determinants of PA of MVPA among parents and their young adult child with ASD as well as MVPA determinants segmented by caregiver level of support. METHODS: 336 parents of adult children with ASD completed the Determinants of Physical Activity and Eating Behaviors for Young Adults with ASD Scale. RESULTS: Children’s weekly time spent in MVPA was predicted by parent self-reported MVPA, exercise competency, video game use, social skills, and neighborhood qualities. Parent weekly time spent in MVPA was predicted by their child’s weekly MVPA, parent exercise competency, parent discretionary time, available home exercise equipment, and parent attitude towards physical activity. CONCLUSION: These results support the administration of quality community-based motor development, motor skills, and exercise skills programs focused on increasing physical activity and parent’s influential role in their children’s weekly MVPA.

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27. Bolat H, Ünsel-Bolat G, Derin H, Şen A, Ceylaner S. Distinct Autism Spectrum Disorder Phenotype and Hand-Flapping Stereotypes: Two Siblings with Novel Homozygous Mutation in TRAPPC9 Gene and Literature Review. Mol Syndromol;2022 (Jul);13(4):263-269.

OBJECTIVE: Pathogenic mutations of the TRAPPC9 gene are the rare genetic causes of autosomal recessive intellectual disability (ID). There are several features that are not fully penetrant such as microcephaly, dysmorphic facial features, obesity, autism spectrum disorder (ASD), attention-deficit hyperactivity disorder (ADHD), and brain abnormalities in TRAPPC9 mutations. METHODS: We performed whole-exome sequencing to evaluate 2 Turkish siblings with ASD and ID born to healthy and consanguineous parents. Parental samples were also analyzed, specifically targeting variants detected in these patients. RESULTS: We present a novel homozygous mutation in the TRAPPC9 gene, c.484G>T (p.Glu162Ter). Additionally, we aim to provide a more comprehensive understanding of the clinical features of a novel homozygous TRAPPC9 mutation. In addition to ID, the siblings in this report suffered from ASD and specific stereotypes as hand-flapping behavior. CONCLUSION: Although there are inconsistencies in the presentation of ASD in TRAPPC9 mutations, repetitive behaviors (hand-flapping) were typical in our cases and several previous reports. The current mutation was described to cause a homozygous premature termination codon that resulted in the absence of the TRAPPC9 protein. We suggest that TRAPPC9 mutations are not only related to ID but also to ASD and hand-flapping behaviors.

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28. Bonuck K, Iadarola S, Gao Q, Siegel JF. COVID-19 Vaccines for Children with Developmental Disabilities: Survey of New York State Parents’ Willingness and Concerns. J Dev Behav Pediatr;2022 (Sep 2)

OBJECTIVE: While 1 in 6 US children have a developmental disability (DD), and such children are disproportionately affected by COVID-19, little is known about their vaccination status. We surveyed New York State parents of children with DDs to ascertain willingness and concerns regarding COVID-19 vaccines. METHODS: An online survey was distributed to statewide DD networks from June to September 2021 (vaccines were authorized for adolescents in May 2021). We report associations between vaccine willingness and concerns and race/ethnicity, child age, in-person schooling, routine/flu vaccinations, and DD diagnoses. Willingness was categorized as « got/will get ASAP » (high), « wait and see/only if required, » or « definitely not. » RESULTS: A total of 352 parents (49.1% White) responded. Willingness differed by age (p < 0.001). High willingness was reported for 73.9%, 50.0%, and 36.0% of children aged 12 to 17, 6 to 11, and 0 to 5 years, respectively. Willingness differed by autism diagnosis (p < 0.01) and routine and flu vaccination status (p < 0.001). Predominant concerns included side effects (89%) and children with disabilities not being in trials (80%). Less common concerns were COVID not serious enough in children to warrant vaccine (23%) and misinformation (e.g., microchips, 5G, DNA changes) (24%). Concerns about vaccine safety differed by age (p < 0.01) and were highest for older and then the youngest children. In age-stratified adjusted models, attention-deficit/hyperactivity disorder was negatively associated with high willingness for age 5 or younger (OR = 0.02, 95% confidence interval, <0.001-0.622). CONCLUSION: Parents of children with DD in New York seemed highly willing for them to receive COVID-19 vaccines. Although few factors predicted willingness to vaccinate, addressing safety and developmental concerns regarding young children is warranted. Given their increased vulnerability, improved COVID-19 surveillance for children with DD is warranted.

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29. Boorom O, Alviar C, Zhang Y, Muñoz VA, Kello CT, Lense MD. Child language and autism diagnosis impact hierarchical temporal structure of parent-child vocal interactions in early childhood. Autism Res;2022 (Sep 3)

Timing is critical to successful social interactions. The temporal structure of dyadic vocal interactions emerges from the rhythm, timing, and frequency of each individuals’ vocalizations and reflects how the dyad dynamically organizes and adapts during an interaction. This study investigated the temporal structure of vocal interactions longitudinally in parent-child dyads of typically developing (TD) infants (n = 49; 9-18 months; 48% male) and toddlers with ASD (n = 23; 27.2 ± 5.0 months; 91.3% male) to identify how developing language and social skills impact the temporal dynamics of the interaction. Acoustic hierarchical temporal structure (HTS), a measure of the nested clustering of acoustic events across multiple timescales, was measured in free play interactions using Allan Factor. HTS reflects a signal’s temporal complexity and variability, with greater HTS indicating reduced flexibility of the dyadic system. Child expressive language significantly predicted HTS (ß = -0.2) longitudinally across TD infants, with greater dyadic HTS associated with lower child language skills. ASD dyads exhibited greater HTS (i.e., more rigid temporal structure) than nonverbal matched (d = 0.41) and expressive language matched TD dyads (d = 0.28). Increased HTS in ASD dyads occurred at timescales >1 s, suggesting greater structuring of pragmatic aspects of interaction. Results provide a new window into how language development and social reciprocity serve as constraints to shape parent-child interaction dynamics and showcase a novel automated approach to characterizing vocal interactions across multiple timescales during early childhood. LAY SUMMARY: Successful interactions involve conversational partners’ flexibly adapting the timing of their behaviors. We measured the temporal patterns of vocalizations in parent-child interactions of typically developing (TD) and autistic infants/toddlers. While language growth made vocal interaction timing more flexible for TD child-parent dyads, it did not for autistic child-parent dyads who exhibited increased clustering of vocal interactions. Both language and social reciprocity play a role in the timing structure and flexibility of smooth interactions.

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30. Borkhoff CM, Atalla M, Bayoumi I, Birken CS, Maguire JL, Parkin PC. Predictive validity of the Infant Toddler Checklist in primary care at the 18-month visit and developmental diagnosis at 3-5 years: a prospective cohort study. BMJ Paediatr Open;2022 (Jun);6(1)

OBJECTIVE: There is international variation in recommendations regarding developmental screening and growing recognition of the low sensitivity of commonly used developmental screening tools. Our objective was to examine the predictive validity of the Infant Toddler Checklist (ITC) at 18 months to predict a developmental diagnosis at 3-5 years, in a primary care setting. METHODS: We designed a prospective cohort study, recruiting in primary care in Toronto, Canada. Parents completed the ITC at the 18-month visit and reported developmental diagnosis at 3-5 years (developmental delay, autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), learning problem). We calculated screening test properties with 95% CIs. We used multivariable logistic regression analyses adjusted for important covariates. RESULTS: In the final sample (n=488), mean age at screening was 18.5 (SD 1.1) months, and at follow-up was 46.6 (SD 10.0) months. At screening, 46 (9.4%) had a positive ITC. At follow-up, 26 (5.3%) had a developmental diagnosis, including: developmental delay (n=22), ASD (n=4), ADHD (n=1), learning problem (n=1); parents of two children each reported two diagnoses (total of 28 diagnoses). Of four children with a diagnosis of ASD at follow-up, three had a positive ITC at 18 months. The ITC specificity (92%, 95% CI: 89% to 94%) and negative predictive value (96%, 95% CI: 95% to 97%) were high; false positive rate was low (8%, 95% CI: 6% to 11%); sensitivity was low (31%, 95% CI: 14% to 52%). There was a strong association between a positive ITC at 18 months and later developmental diagnosis (adjusted OR 4.48, 95% CI: 1.72 to 11.64; p=0.002). CONCLUSION: The ITC had high specificity, high negative predictive value, low false positive rate, and identified children with later developmental delay and ASD. The ITC had low sensitivity, similar to other screening tools underscoring the importance of continuous developmental surveillance at all health supervision visits.

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31. Boterberg S, Vantroys E, De Paepe B, Van Coster R, Roeyers H. Urine lactate concentration as a non-invasive screener for metabolic abnormalities: Findings in children with autism spectrum disorder and regression. PLoS One;2022;17(9):e0274310.

There is increasing evidence that diseases caused by dysfunctional mitochondria (MD) are associated with autism spectrum disorder (ASD). A comprehensive meta-analysis showed that developmental regression was reported in half of the children with ASD and mitochondrial dysfunction which is much higher than in the general population of ASD. The aim of the present exploratory study was to determine lactate concentrations in urine of children with ASD, as a non-invasive large-scale screening method for metabolic abnormalities including mitochondrial dysfunction and its possible association with regression. First, clinical characteristics of MD were examined in 99 children (3-11 years) with ASD. Second, clinical characteristics of MD, severity of ASD and reported regression were compared between children with the 20% lowest lactate concentrations and those with the 20% highest lactate concentrations in urine. Third, clinical characteristics of MD and lactate concentration in urine were compared in children with (n = 37) and without (n = 62) reported regression. An association of urine lactate concentrations with mitochondrial dysfunction and regression could not be demonstrated in our large ASD cohort. However, since ASD children were reported by their parents to show a broad range of phenotypic characteristics of MD (e.g., gastro-intestinal and respiratory impairments), and lactate concentrations in urine are not always increased in individuals with MD, the presence of milder mitochondrial dysfunction cannot be excluded. Development of alternative biomarkers and their implementation in prospective studies following developmental trajectories of infants at elevated likelihood for ASD will be needed in the future to further unravel the association of ASD with mitochondrial dysfunction and eventually improve early detection.

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32. Bouw N, Swaab H, Tartaglia N, Wilson RL, Van der Velde K, van Rijn S. Early symptoms of autism spectrum disorder (ASD) in 1-8 year old children with sex chromosome trisomies (XXX, XXY, XYY), and the predictive value of joint attention. Eur Child Adolesc Psychiatry;2022 (Sep 15)

The objective of the present study is to investigate the impact of Sex Chromosome Trisomy (SCT; XXX, XXY, XYY) on the early appearance of Autism Spectrum Disorder (ASD) symptoms, and the predictive value of Joint Attention for symptoms of ASD. SCTs are specific genetic conditions that may serve as naturalistic ‘at risk’ models of neurodevelopment, as they are associated with increased risk for neurobehavioral vulnerabilities. A group of 82 children with SCT (aged 1-8 years) was included at baseline of this longitudinal study. Joint Attention was measured at baseline with structured behavior observations according to the Early Social Communication Scales. ASD symptoms were assessed with the Modified Checklist for Autism in Toddlers questionnaire and Autism Diagnostic Interview-Revised in a 1-year follow-up. Recruitment and assessment took place in the Netherlands and in the United States. The results demonstrate that ASD symptoms were substantially higher in children with SCT compared to the general population, with 22% of our cohort at clinical risk for ASD, especially in the domain of social interaction and communication. Second, a predictive value of Joint Attention was found for ASD symptoms at 1-year follow-up. In this cohort, no differences were found between karyotype-subtypes. In conclusion, from a very early age, SCT can be associated with an increased risk for vulnerabilities in adaptive social functioning. These findings show a neurodevelopmental impact of the extra X or Y chromosome on social adaptive development associated with risk for ASD already from early childhood onward. These findings advocate for close monitoring and early (preventive) support, aimed to optimize social development of young children with SCT.

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33. Bouzroud W, Tazzite A, Berrada S, Gazzaz B, Dehbi H. R306X Mutation in the MECP2 Gene Causes an Atypical Rett Syndrome in a Moroccan Patient: A Case Report. Clin Pathol;2022 (Jan-Dec);15:2632010X221124269.

Rett syndrome (RTT) is a rare X-linked syndrome that predominantly affects girls. It is characterized by a severe and progressive neurodevelopmental disorder with neurological regression and autism spectrum features. The Rett syndrome is associated with a broad phenotypic spectrum. It ranges from a classical Rett syndrome defined by well-established criteria to atypical cases with symptoms similar to other syndromes, such as Angelman syndrome. The first case of a Moroccan female child carrying a R306X mutation in the MECP2 (Methyl-CpG-Binding Protein 2) gene, with an unusual manifestation of Rett syndrome, is presented here. She showed autistic regression, behavioral stagnation, epilepsy, unmotivated laughter, and craniofacial dysmorphia. Whole exome sequencing revealed a nonsense mutation (R306X), resulting in a truncated, nonfunctional MECP2 protein. The overlapping phenotypic spectrums between Rett and Angelman syndromes have been described, and an interaction between the MECP2 gene and the UBE3A (Ubiquitin Protein Ligase E3A) gene pathways is possible but has not yet been proven. An extensive genetic analysis is highly recommended in atypical cases to ensure an accurate diagnosis and to improve patient management and genetic counseling.

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34. Brignell A, Harwood RC, May T, Woolfenden S, Montgomery A, Iorio A, Williams K. Overall prognosis of preschool autism spectrum disorder diagnoses. Cochrane Database Syst Rev;2022 (Sep 28);9(9):CD012749.

BACKGROUND: Autism spectrum disorder is a neurodevelopmental disorder characterised by social communication difficulties, restricted interests and repetitive behaviours. The clinical pathway for children with a diagnosis of autism spectrum disorder is varied, and current research suggests some children may not continue to meet diagnostic criteria over time. OBJECTIVES: The primary objective of this review was to synthesise the available evidence on the proportion of preschool children who have a diagnosis of autism spectrum disorder at baseline (diagnosed before six years of age) who continue to meet diagnostic criteria at follow-up one or more years later (up to 19 years of age). SEARCH METHODS: We searched MEDLINE, Embase, PsycINFO, and eight other databases in October 2017 and ran top-up searches up to July 2021. We also searched reference lists of relevant systematic reviews. SELECTION CRITERIA: Two review authors independently assessed prospective and retrospective follow-up studies that used the same measure and process within studies to diagnose autism spectrum disorder at baseline and follow-up. Studies were required to have at least one year of follow-up and contain at least 10 participants. Participants were all aged less than six years at baseline assessment and followed up before 19 years of age. DATA COLLECTION AND ANALYSIS: We extracted data on study characteristics and the proportion of children diagnosed with autism spectrum disorder at baseline and follow-up. We also collected information on change in scores on measures that assess the dimensions of autism spectrum disorder (i.e. social communication and restricted interests and repetitive behaviours). Two review authors independently extracted data on study characteristics and assessed risk of bias using a modified quality in prognosis studies (QUIPS) tool. We conducted a random-effects meta-analysis or narrative synthesis, depending on the type of data available. We also conducted prognostic factor analyses to explore factors that may predict diagnostic outcome. MAIN RESULTS: In total, 49 studies met our inclusion criteria and 42 of these (11,740 participants) had data that could be extracted. Of the 42 studies, 25 (60%) were conducted in North America, 13 (31%) were conducted in Europe and the UK, and four (10%) in Asia. Most (52%) studies were published before 2014. The mean age of the participants was 3.19 years (range 1.13 to 5.0 years) at baseline and 6.12 years (range 3.0 to 12.14 years) at follow-up. The mean length of follow-up was 2.86 years (range 1.0 to 12.41 years). The majority of the children were boys (81%), and just over half (60%) of the studies primarily included participants with intellectual disability (intelligence quotient < 70). The mean sample size was 272 (range 10 to 8564). Sixty-nine per cent of studies used one diagnostic assessment tool, 24% used two tools and 7% used three or more tools. Diagnosis was decided by a multidisciplinary team in 41% of studies. No data were available for the outcomes of social communication and restricted and repetitive behaviours and interests. Of the 42 studies with available data, we were able to synthesise data from 34 studies (69% of all included studies; n = 11,129) in a meta-analysis. In summary, 92% (95% confidence interval 89% to 95%) of participants continued to meet diagnostic criteria for autism spectrum disorder from baseline to follow-up one or more years later; however, the quality of the evidence was judged as low due to study limitations and inconsistency. The majority of the included studies (95%) were rated at high risk of bias. We were unable to explore the outcomes of change in social communication and restricted and repetitive behaviour and interests between baseline and follow-up as none of the included studies provided separate domain scores at baseline and follow-up. Details on conflict of interest were reported in 24 studies. Funding support was reported by 30 studies, 12 studies omitted details on funding sources and two studies reported no funding support. Declared funding sources were categorised as government, university or non-government organisation or charity groups. We considered it unlikely funding sources would have significantly influenced the outcomes, given the nature of prognosis studies. AUTHORS' CONCLUSIONS: Overall, we found that nine out of 10 children who were diagnosed with autism spectrum disorder before six years of age continued to meet diagnostic criteria for autism spectrum disorder a year or more later, however the evidence was uncertain. Confidence in the evidence was rated low using GRADE, due to heterogeneity and risk of bias, and there were few studies that included children diagnosed using a current classification system, such as the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) or the eleventh revision of the International Classification of Diseases (ICD-11). Future studies that are well-designed, prospective and specifically assess prognosis of autism spectrum disorder diagnoses are needed. These studies should also include contemporary diagnostic assessment methods across a broad range of participants and investigate a range of relevant prognostic factors.

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35. Brosnan M, Ashwin C. Differences in Art Appreciation in Autism: A Measure of Reduced Intuitive Processing. J Autism Dev Disord;2022 (Sep 5)

Art appreciation reflects an initial emotional and intuitive response to artwork evaluation, although this intuitive evaluation can be attenuated by subsequent deliberation. The Dual Process Theory of Autism proposes that individuals with Autism Spectrum Disorder (ASD) have a greater propensity to deliberate and reduced intuition compared to matched controls. Evaluations of high- and low-quality artworks were undertaken by 107 individuals with a diagnosis of ASD and 145 controls. Controls consistently evaluated high-quality artworks to be much better quality than the low-quality artworks, reflecting intuitive processing. The ASD sample showed a reduced difference in evaluations between high- versus low-quality artwork, which reflects reduced intuitive processing and greater deliberative processing and is consistent with predictions by the Dual Process Theory of Autism.

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36. Brusov OS, Klyushnik TP, Zozulya SA, Karpova NS, Shilov YE, Nikitina SG, Simashkova NV. [Paired and partial correlations of immune parameters of neuro-immuno-test and coagulation parameters of thrombodynamics test in children with children’s autism]. Zh Nevrol Psikhiatr Im S S Korsakova;2022;122(9. Vyp. 2):68-73.

OBJECTIVE: To reveal paired and partial correlations of values of neuro-immuno-test and thrombodynamics test in children with childhood autism and schizophrenia in childhood in a state of exacerbation. MATERIAL AND METHODS: The study used a database of children with childhood autism, obtained by us in 2028-2019. The study included 46 patients with childhood autism (CA) aged 2 to 13 years: median age [Q1; Q3] – 5 years [4; 7], 10 girls (22%) and 36 boys (78%)). The thrombodynamics test (TD) was performed on a T-2 thrombodynamics analyzer according to the manufacturer’s instructions. RESULTS: It was shown that there is a statistically significant positive correlation (R=0.369, p=0.018) between the acquired immunity parameter: the level of serum antibodies to myelin basic protein (BMP): abBMP parameter, and the main parameter of platelet hemostasis – the time of appearance of spontaneous clots (Tsp). It can be assumed that autoantibodies to BMP block the procoagulant effect of myelin basic protein and thus have an anticoagulant effect. However, this analysis did not take into account the possible effects of other parameter of the neuro-immuno-test and thrombodynamics test. Therefore, when studying the correlation of specific parameters of the neuro-immuno-test and thrombodynamics, it is necessary to take into account the possible modifying effect of other parameters of these tests. It was shown that after subtracting the influence on the main correlation (abBMP & Tsp) of individual thrombodynamic parameters (Vi, V and D), as well as their total influence, the partial correlations become statistically insignificant. This indicates that these TD parameters can, individually or in total, determine the revealed correlation between the levels of antibodies to the basic myelin protein (Basic Myelin Protein) and the time of the appearance of spontaneous clots. CONCLUSION: Thus, it was shown that the correlations between the studied parameters of the neuro-immuno-test and the indicators of the thrombodynamics test mutually depend on the other indicators of these tests. This confirms the hypothesis that the immune system and the hemostatic system are two different sides of a single supersystem.

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37. Brynge M, Sjöqvist H, Gardner RM, Lee BK, Dalman C, Karlsson H. Maternal infection during pregnancy and likelihood of autism and intellectual disability in children in Sweden: a negative control and sibling comparison cohort study. Lancet Psychiatry;2022 (Oct);9(10):782-791.

BACKGROUND: Maternal infections during pregnancy are associated with intellectual disability and autism in exposed children. Whether these associations are causal, and therefore should be targets of preventive strategies, remains unknown. We aimed to investigate these associations, to determine whether there is a causal role of maternal infection during pregnancy for children’s risk of autism and intellectual disability, by accounting for unmeasured familial factors. METHODS: We used a register-based cohort study design, and included children living in Stockholm County, Sweden, who were born in 1987-2010. We excluded children not born in Sweden, adopted children, and children with unknown biological mothers or fathers. Maternal infections during pregnancy, defined by ICD-8, ICD-9, and ICD-10 codes, were identified in the National Patient Register and Medical Birth Register. Children were followed up from birth to an outcome or a censoring event (death, migration from Stockholm, age 18 years, or Dec 31, 2016, whichever occurred first). The primary outcomes were diagnosis of autism or diagnosis of intellectual disability. We did a survival analysis to examine the association between inpatient and outpatient specialised care for any infection during pregnancy and likelihood of autism or intellectual disability in the child. To address potential residual confounding, we also estimated the relationship between maternal infection in the year preceding pregnancy as a negative control exposure and conducted a matched sibling analysis of sibling pairs who were discordant for autism or intellectual disability. FINDINGS: 647 947 children living in Stockholm County were identified and, after excluding 97 980 children, we included 549 967 in the study (267 995 [48•7%] were female and 281 972 [51•3%] were male; mean age at censoring 13•5 years [SD 5•0; range <1 to 18]; 142 597 [25•9%] had a mother who was not born in Sweden). 445 (1•3%) of 34 013 children exposed to maternal infection during pregnancy were diagnosed with intellectual disability and 1123 (3•3%) with autism. 5087 (1•0%) of 515 954 unexposed children were diagnosed with intellectual disability and 13 035 (2•5%) with autism. Maternal infection during pregnancy was associated with autism (hazard ratio [HR] 1•16, 95% CI 1•09-1•23) and intellectual disability (1•37, 1•23-1•51) in exposed children compared with unexposed children. Maternal infection in the year before pregnancy (negative control exposure) was also associated with autism (HR 1•25, 95% CI 1•14-1•36), but was not associated with intellectual disability (1•09, 0•94-1•27). In sibling comparisons, the associations with maternal infection during pregnancy were attenuated for autism (HR 0•94, 95% CI 0•82-1•08; n=21 864), but not to the same extent for intellectual disability (1•15, 0•95-1•40; n=9275). INTERPRETATION: Although infections in pregnant women are associated with both autism and intellectual disability in their children, the association with autism does not appear to reflect a causal relationship, but is more likely to be explained by factors shared between family members such as genetic variation or aspects of the shared environment. Thus, infection prevention is not expected to reduce autism incidence. For intellectual disability, unmeasured familial factors might not fully explain the observed associations, and a causal role of maternal infections cannot be excluded. Causal effects of specific but rare infections or infections not requiring health care contact cannot be excluded in either autism or intellectual disability. FUNDING: Swedish Research Council, Stanley Medical Research Institute, and Autism Speaks. TRANSLATION: For the Swedish translation of the abstract see Supplementary Materials section.

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38. Budisteanu M, Linca F, Andrei LE, Mateescu L, Glangher A, Ioana D, Severin E, Riga S, Rad F. Recognition of early warning signs and symptoms – the first steps on the road to Autism Spectrum Disorder diagnosis. Ann Ist Super Sanita;2022 (Jul-Sep);58(3):183-191.

OBJECTIVE: To identify developmental symptoms reported at firsts doctor visits by parents of children later diagnosed with Autism Spectrum Disorder (ASD). DESIGN: Cohort study. SETTING: The study was conducted in the Department of Psychiatry Research of « Prof. Dr. Alexandru Obregia » Clinical Psychiatry Hospital from Bucharest between September 2019 and May 2021. PATIENTS: 105 cases: 82 boys and 23 girls, 100 children with autism, and 5 patients with Asperger’s syndrome. INTERVENTION: ASD was diagnosed according to the DSM-5 criteria, ADOS-1 (Autism Diagnostic Observation Schedule, 1st Edition) and/or ADI-R (Autism Diagnostic Interview-Revised) tests scores; features reported by the parents for which they presented to the doctor for a diagnosis were taken into consideration. MAIN OUTCOME MEASURES: The age at first presentation to the doctor; the most common early signs reported by the parents of children with ASD. RESULTS: The age at first presentation to the doctor in our group was between 9 months and 14 years. The most common early signs reported by parents were: delayed language development, deficits in understanding verbal instructions/indications, and hyperactivity and aggressivity. In the case of patients with Asperger’s syndrome, the reported features were hyperactivity and aggressivity, learning difficulties, and social interaction problems. Regression and delay in language development occurred more often in boys than in girls. CONCLUSIONS: Parents, as well as family doctors or paediatricians, should pay great attention to the children’s behaviour, alongside their cognitive and language development. Early detection is essential for early intervention and our results can be used to develop training programs for parents and paediatricians for early recognition of ASD.

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39. Bulut Ö F, Tanir Y. A Case of Priapism in a Child With Autism Spectrum Disorder, Possibly Due to Risperidone Treatment With Addition of Atomoxetine. Clin Neuropharmacol;2022 (Sep 12)

OBJECTIVES: Risperidone is an effective drug used for the treatment of irritability in children with autism spectrum disorder (ASD). Atomoxetine (ATX) is a well-tolerated drug used in first-line therapy in children with attention-deficit/hyperactivity disorder (ADHD). However, uncommon adverse effects of risperidone and ATX are a concern among mental health professionals. To our knowledge, this is the first case report of priapism after addition of ATX upon existing treatment with risperidone. METHODS: Written informed consent for publication was obtained from the patient and his parents, and their identities were concealed for ethical reasons. RESULTS: Here, we report a case of priapism as an adverse effect of ATX and risperidone treatment in a 7-year-old boy with ASD and comorbid ADHD. In this case, priapism was not observed with risperidone until ATX was added. CONCLUSIONS: Priapism is a condition viewed as a medical emergency. Although risperidone-induced priapism is a rare phenomenon, it is advised for clinicians to consider the drug interactions in treatment of ASD and ADHD in terms of early diagnosis and intervention.

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40. Burke MM, Cheung WC, Li C, DaWalt L, Segal J, Taylor JL. Parental Perceptions of Service Access for Transition-Aged Youth With Autism During COVID-19. Intellect Dev Disabil;2022 (Oct 1);60(5):369-381.

Services are critical for youth with autism spectrum disorder (ASD), especially during the transition to adulthood. Under the best of circumstances, though, it can be difficult to access needed adult services. With COVID-19, services were more difficult to obtain and retain. In this study, we explored parent perceptions of accessing new services and maintaining current services during the first year of the COVID-19 pandemic. Structured interviews were conducted with 65 parents of transition-aged youth (aged 16-26) with ASD living in three states (IL, TN, and WI) in the United States. None of the participants reported receiving new services during the pandemic, and many struggled to access services via online applications. In addition, participants reported that service suspensions and changes in modality (e.g., from in-person to telehealth) were spearheaded by professionals and not families. Participants, especially those in TN, were more likely to pay out-of-pocket for services during the COVID-19 pandemic to compensate for service disruptions. Implications for research and practice are discussed.

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41. Buro AW, Gray HL, Kirby RS, Marshall J, Rolle L, Holloway J. Parent and Adolescent Attitudes Toward a Virtual Nutrition Intervention for Adolescents with Autism Spectrum Disorder. Adv Neurodev Disord;2022 (Sep 17):1-13.

OBJECTIVES: This qualitative study examined acceptability, perceived benefits, and unintended consequences of a virtual implementation of an 8-week theory-driven nutrition intervention (BALANCE) for adolescents with autism spectrum disorder (ASD). METHODS: Twenty-one parent interviews and six adolescent focus groups or interviews (n = 12; group size ranged 1-5) were conducted. Data were collected virtually via Microsoft Teams and analyzed for a priori and emergent themes. RESULTS: The intervention was generally acceptable. Adolescents and parents reported that they were comfortable with the virtual format and the interactive group setting. Parents of adolescents 15 years and older emphasized the importance of autonomy/independence. Participants reported changes in adolescents’ psychosocial determinants of dietary intake, including knowledge and self-efficacy, as well as diet changes (e.g., self-regulation). CONCLUSIONS: The virtual implementation of BALANCE was acceptable according to adolescents with ASD and their parents based on their reported perceptions and feelings about the intervention. The findings suggest that many adolescents with ASD may benefit from virtual group interventions. Quantitative research is needed to examine behavioral outcomes of the BALANCE intervention.

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42. Buro AW, Gray HL, Kirby RS, Marshall J, Strange M, Hasan S, Holloway J. Pilot Study of a Virtual Nutrition Intervention for Adolescents and Young Adults With Autism Spectrum Disorder. J Nutr Educ Behav;2022 (Sep);54(9):853-862.

OBJECTIVE: Examine the impact of a virtual nutrition education program, Bringing Adolescent Learners with Autism Nutrition and Culinary Education (BALANCE), on dietary intake and psychosocial determinants of healthy eating in adolescents and young adults (AYA) with autism spectrum disorder (ASD). METHODS: A sample of AYA with ASD aged 12-21 years (n = 27; 6 groups of 2-7 adolescents) participated in BALANCE, a Social Cognitive Theory-based intervention, for eight 30-45-minute lessons. Outcomes were compared using a pre-post design and included dietary intake (assessed using a food frequency questionnaire) and psychosocial determinants of healthy eating (assessed by a validated survey). Wilcoxon signed-rank tests compared preintervention and postintervention medians with an alpha level of 0.05. RESULTS: Mean added sugar intake (P = 0.026) decreased, and behavioral strategies (P = 0.010), self-efficacy (P < 0.001), and outcome expectations (P = 0.009) improved. There was no difference in fruit or vegetable intake or other psychosocial determinants. CONCLUSIONS AND IMPLICATIONS: The BALANCE intervention may improve psychosocial determinants and dietary behaviors in AYA with ASD. Future virtual programs may incorporate more assistance and support to be accessible for AYA with ASD of varying severity levels.

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43. Bylemans T, Heleven E, Baetens K, Deroost N, Baeken C, Van Overwalle F. A narrative sequencing and mentalizing training for adults with autism: A pilot study. Front Behav Neurosci;2022;16:941272.

Adults diagnosed with autism experience difficulties with understanding the mental states of others, or themselves (mentalizing) and with adequately sequencing personal stories (narrative coherence). Given that the posterior cerebellum is implicated in both skills, as well as in the etiology of autism, we developed a narrative sequencing and mentalizing training for autistic adults. Participants with an official autism diagnosis were randomly assigned to a Training group (n = 17) or a waiting-list Control group (n = 15). The Training group took part in six weekly sessions in groups of three participants lasting each about 60 min. During training, participants had to (re)tell stories from the perspective of the original storyteller and answer questions that required mentalizing. We found significant improvements in mentalizing about others’ beliefs and in narrative coherence for the Training group compared to the Control group immediately after the training compared to before the training. Almost all participants from the Training group expressed beneficial effects of the training on their mood and half of the participants reported positive effects on their self-confidence in social situations. All participants recommended the current training to others. Results are discussed in light of cerebellar theories on sequencing of social actions during mentalizing. Further improvements to the program are suggested. Our results highlight the potential clinical utility of adopting a neuroscience-informed approach to developing novel therapeutic interventions for autistic populations.

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44. Byrne K, Zheng S, Bishop S, Boucher J, Ghods S, Kim SH, Lord C. Behavioral responses to fevers and other medical events in children with and without ASD. Autism Res;2022 (Sep 26)

Anecdotal reports and a small number of research studies suggest possible behavioral improvements in children with autism spectrum disorders (ASD) during a fever. However, previous studies rely largely on retrospective reports of this phenomenon. Establishing a robust association between fever and reduction of ASD-related symptoms would promote opportunities for the development of innovative therapeutic interventions for children with ASD. In the current study, prospective data were collected from 141 children with ASD and 103 typically developing (TD) controls using parent responses to an 11-item behavioral survey. Behaviors when no illness was present, during a fever, the week after a fever, and during non-febrile illnesses for TD and ASD children were compared. Profiles of cases in which caregivers reported consistent behavioral improvements during fever are described. Data indicated worsening social, emotional/behavioral, and somatic symptoms during a fever regardless of diagnosis, with children with ASD demonstrating greater worsening of behaviors during a fever than TD children. Only three out of 141 children with ASD demonstrated consistent behavioral improvements during a fever; these children had a range of cognitive and adaptive skills. Children with ASD had stronger negative responses to fever than TD children. These findings contradict previous literature suggesting behavioral improvements for children with ASD. While improvements may occur for some children, it does not appear to be a common phenomenon. Additional research is needed to elucidate the nature of behavioral improvements in the subset of children with ASD who may respond positively to fever. LAY SUMMARY: This study examines behavioral changes during fever and other medical events in children with autism compared to behavioral changes in a typically developing control group. Previous research and consistent subjective reports from parents and pediatricians suggest the possibility of behavioral improvements for children with autism during a fever. There is a lack of methodically collected data examining these effects. In the current study, children with autism consistently had stronger and more frequent negative behavior changes during fever than typically developing children (who also primarily showed worsening of behavior during fevers). Three out of 141 autistic children, and no typical children, showed improvements in varied areas during fevers.

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45. Carey C, Singh N, Dunn JT, Sementa T, Mendez MA, Velthuis H, Pereira AC, Pretzsch CM, Horder J, Hader S, Lythgoe DJ, Rotaru DG, Gee A, Cash D, Veronese M, Murphy D, McAlonan G. From bench to bedside: The mGluR5 system in people with and without Autism Spectrum Disorder and animal model systems. Transl Psychiatry;2022 (Sep 20);12(1):395.

The metabotropic glutamate receptor 5 (mGluR5) is a key regulator of excitatory (E) glutamate and inhibitory (I) γ-amino butyric acid (GABA) signalling in the brain. Despite the close functional ties between mGluR5 and E/I signalling, no-one has directly examined the relationship between mGluR5 and glutamate or GABA in vivo in the human brain of autistic individuals. We measured [(18)F] FPEB ((18)F-3-fluoro-5-[(pyridin-3-yl)ethynyl]benzonitrile) binding in 15 adults (6 with Autism Spectrum Disorder) using two regions of interest, the left dorsomedial prefrontal cortex and a region primarily composed of left striatum and thalamus. These two regions were mapped out using MEGA-PRESS voxels and then superimposed on reconstructed PET images. This allowed for direct comparison between mGluR5, GABA + and Glx. To better understand the molecular underpinnings of our results we used an autoradiography study of mGluR5 in three mouse models associated with ASD: Cntnap2 knockout, Shank3 knockout, and 16p11.2 deletion. Autistic individuals had significantly higher [(18)F] FPEB binding (t (13) = -2.86, p = 0.047) in the left striatum/thalamus region of interest as compared to controls. Within this region, there was a strong negative correlation between GABA + and mGluR5 density across the entire cohort (Pearson’s correlation: r (14) = -0.763, p = 0.002). Cntnap2 KO mice had significantly higher mGlu5 receptor binding in the striatum (caudate-putamen) as compared to wild-type (WT) mice (n = 15, p = 0.03). There were no differences in mGluR5 binding for mice with the Shank3 knockout or 16p11.2 deletion. Given that Cntnap2 is associated with a specific striatal deficit of parvalbumin positive GABA interneurons and ‘autistic’ features, our findings suggest that an increase in mGluR5 in ASD may relate to GABAergic interneuron abnormalities.

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46. Carey H, Tanner K, Ratliff-Schaub K, Baldino M, Kelly N, Andridge RR. Early Developmental Trends in High-Risk Neonates Later Diagnosed With Autism Spectrum Disorder. Pediatr Phys Ther;2022 (Sep 12)

PURPOSE: We hypothesized that clinical data from a neonatal intensive care unit (NICU) infant developmental follow-up clinic would identify early manifestations of autism spectrum disorder (ASD). METHODS: One hundred forty-four infants were identified; 72 later diagnosed with ASD and 72 controls. Retrospective chart review provided data from the Test of Infant Motor Performance (TIMP) and the Bayley Scales of Infant and Toddler Development, third edition (Bayley-III), between 8 and 26 months of age. RESULTS: Between-group comparisons indicated no significant group difference in TIMP scores; however, Bayley-III scaled scores differed between the groups at 2 administration times. The within-group Bayley-III change scores declined significantly more for the ASD group in cognitive and communication subtests. CONCLUSION: High-risk neonates, due to prematurity or morbidity, later diagnosed with ASD demonstrated statistically significant differences, including a more precipitous drop in Bayley-III scores over time. Early, longitudinal developmental surveillance for neonates at risk of ASD is critical. What this adds to the evidence: Early identification of ASD is critical to optimize developmental outcomes in young children, including infants born prematurely or with neonatal morbidity, who are perceived to have an increased risk for ASD. Despite these findings, minimal research has been conducted to evaluate the utility of commonly administered norm-referenced developmental surveillance instruments to identify possible early signs of ASD in this high-risk population due to prematurity or neonatal morbidity and not familial association. The present study analyzed retrospectively collected clinical data from a NICU developmental follow-up clinic for 144 infants, 72 of which were later diagnosed with ASD and 72 sex- and gestational age-matched controls. Results demonstrated statistically significant poorer Bayley-III outcomes for the ASD group compared with controls at 2 different study time points, including a more precipitous drop in Bayley-III scaled scores over time. This study highlights the importance of early and longitudinal developmental surveillance for high-risk neonates at risk of ASD.

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47. Carolyn Graff J, Fisher M, Hill L, Reaves RP, Nelson SR, Betz CL. Closing the nursing leadership gap: Leveraging partnerships with people with intellectual disabilities and developmental disabilities. Nurs Outlook;2022 (Sep 6)

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48. Carson TB, Qiu Y, Liang L, Medina AM, Ortiz A, Condon CA, Ryan N, Ambrosio J, Carcamo K, Miranda D, Palacio-Raine A. Development and validation of a paediatric version of the Khalfa Hyperacusis Questionnaire for children with and without autism. Int J Audiol;2022 (Sep 2):1-9.

OBJECTIVE: Hyperacusis is reported to occur in 3.2-17.1% of the general paediatric population with higher rates in clinical populations such as autism spectrum disorders (ASD). Although hyperacusis is a relatively common form of decreased sound tolerance (DST), no valid paediatric hyperacusis measures are currently available. The purpose of the present study was to develop and validate a paediatric version of the Khalfa Hyperacusis Questionnaire (HQ) as a first step towards filling this measurement gap. DESIGN: A cross-sectional design was used to evaluate therapist opinions of the paediatric version (P-HQ) and to field test the P-HQ in parents of children with and without ASD. Total scores were compared between ASD and non-ASD groups. STUDY SAMPLE: Eleven paediatric occupational and speech therapists with expertise in ASD, 64 parents of children with ASD and 37 parents of children without ASD completed online questionnaires. Psychometric analyses were conducted. RESULTS: A unidimensional construct was found underlying P-HQ and all items displayed sufficient theoretical relevance to hyperacusis and adequate psychometric properties. CONCLUSIONS: The P-HQ demonstrates good internal consistency and shows promise as a potential screening tool for identifying DST in ASD. Further research is warranted to establish normative data and validate cut-off scores.

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49. Carter Leno V, Wright N, Pickles A, Bedford R, Zaidman-Zait A, Kerns C, Mirenda P, Zwaigenbaum L, Duku E, Bennett T, Georgiades S, Smith I, Vaillancourt T, Szatmari P, Elsabbagh M. Exposure to family stressful life events in autistic children: Longitudinal associations with mental health and the moderating role of cognitive flexibility. Autism;2022 (Oct);26(7):1656-1667.

Experiencing stressful life events, such as a parent having had serious illness, parental divorce, bullying and victimization, is known to increase risk for mental health difficulties in neurotypical children. However, few studies have looked at whether stressful life events have a similar impact in autistic youth and if any individual characteristics may moderate the impact of said life events. In this study, we tested whether in autistic children aged 7-11 years, exposure to family-level stressful life events predicted later mental health symptoms (and vice versa). We also tested whether associations between stressful life events and mental health symptoms differed depending on the child’s level of cognitive flexibility. We found stressful life events only predicted internalizing symptoms (such as anxiety and depression) in children with clinically significant difficulties in cognitive flexibility (as rated by their parents). Mental health symptoms did not predict future exposure to stressful life events. Results suggest that information about exposure to stressful life events and cognitive inflexibility may be helpful in identifying autistic children who may be at risk of developing anxiety and depression symptoms.

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50. Carter SA, Lin JC, Chow T, Yu X, Rahman MM, Martinez MP, Feldman K, Eckel SP, Chen JC, Chen Z, Levitt P, Lurmann FW, McConnell R, Xiang AH. Maternal obesity, diabetes, preeclampsia, and asthma during pregnancy and likelihood of autism spectrum disorder with gastrointestinal disturbances in offspring. Autism;2022 (Sep 4):13623613221118430.

Autism spectrum disorder is heterogeneous and often accompanied by co-occurring conditions. Previous studies have shown that maternal health conditions during pregnancy including obesity, diabetes, preeclampsia, and asthma were associated with increased likelihood of autism. However, little has been done examining the likelihood associated with autism with co-occurring conditions. This study assessed these maternal health conditions in relationship to autism and gastrointestinal disturbances, a common co-occurring condition in children diagnosed with autism. Data included 308,536 mother-child pairs from one integrated health care system with comprehensive electronic medical records. Among the study cohort, 5,131 (1.7%) children had a diagnosis of autism by age 5. Gastrointestinal disturbances were present in 35.4% of children diagnosed with autism and 25.1% of children without autism diagnoses. Our results showed that each of the four maternal health conditions during pregnancy was associated with increased likelihood of gastrointestinal disturbances, autism without gastrointestinal disturbances, and autism with gastrointestinal disturbances. For all four maternal health conditions, the association was greatest for likelihood of autism with gastrointestinal disturbances. Given that children diagnosed with autism are more likely to have gastrointestinal disturbances and over 80% of gastrointestinal disturbances in this cohort were diagnosed prior to autism diagnosis, this study suggests that there may be common biological pathways between autism and gastrointestinal disturbances impacted by these maternal exposures. Future studies are warranted to assess associations between different exposures and autism with other co-occurring conditions to increase our understanding of autism heterogeneity.

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51. Chakraborty S, Bhatia T, Antony N, Roy A, Shriharsh V, Sahay A, Brar JS, Iyengar S, Singh R, Nimgaonkar VL, Deshpande SN. Comparing the Indian Autism Screening Questionnaire (IASQ) and the Indian Scale for Assessment of Autism (ISAA) with the Childhood Autism Rating Scale-Second Edition (CARS2) in Indian settings. PLoS One;2022;17(9):e0273780.

The Indian Autism Screening Questionnaire (IASQ), derived from the Indian Scale for Assessment of Autism ISAA (the mandated tool for autism in India), is an autism screening instrument for use in the general population by minimally trained workers. While ISAA has 40 items with four anchor points, the IASQ is a 10-item questionnaire with yes/no answers. It was initially validated using the ISAA. During its development the ISAA was itself compared to the Childhood Autism Rating Scale version 1 (ISAA Manual). In the present study, we evaluated both the ISAA and the IASQ in relation to the Childhood Autism Rating Scale version 2 (CARS-2). METHODS: Participants were recruited from three settings: a referral clinic for neurodevelopmental conditions run by the Department of Paediatrics of a tertiary care teaching hospital (NDC OPD), the outpatient department of an institute for disability and rehabilitation (NIEPID), and from the community (CGOC). Persons between ages 3-18 were recruited following consent or assent (parent and child/adolescent). The IASQ was administered by a minimally trained administrator. It was followed by ISAA and the CARS-2 (in alternating order, by different evaluators blind to each other) (CARS2 SV (Standard Version) and CARS2 HF (High Functioning) as applicable). Sensitivity, specificity and area under the Receiver Operator Characteristics (ROC) curve were calculated for IASQ and CARS2, as well as for ISAA and CARS2. Concordance between CARS2 and ISAA was calculated using kappa coefficient. RESULTS: A total of 285 participants (NIEPD n = 124; NDC OPD, n = 4; CGOC n = 157) (a total of 70 with autism and 215 controls) participated. IASQ and CARS2 were administered on 285 participants, while IASQ and ISAA were administered on 264 participants. When IASQ was compared to CARS2, sensitivity was 97%, specificity 81%, PPV 63%, NPV 99% at cut off 1 while these values were 97%, 92%, 79% and 99% respectively at cut off 2. There was high concordance between CARS2 and ISAA (Kappa 0.907, p<0.0001). CONCLUSIONS: IASQ has satisfactory sensitivity, specificity and concordance when compared with CARS2; it can be used for screening children with autism in community. The ISAA also showed a high concordance with CARS2, as it had with the older version of CARS.

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52. Chakraborty S, Parayil R, Mishra S, Nongthomba U, Clement JP. Epilepsy Characteristics in Neurodevelopmental Disorders: Research from Patient Cohorts and Animal Models Focusing on Autism Spectrum Disorder. Int J Mol Sci;2022 (Sep 16);23(18)

Epilepsy, a heterogeneous group of brain-related diseases, has continued to significantly burden society and families. Epilepsy comorbid with neurodevelopmental disorders (NDDs) is believed to occur due to multifaceted pathophysiological mechanisms involving disruptions in the excitation and inhibition (E/I) balance impeding widespread functional neuronal circuitry. Although the field has received much attention from the scientific community recently, the research has not yet translated into actionable therapeutics to completely cure epilepsy, particularly those comorbid with NDDs. In this review, we sought to elucidate the basic causes underlying epilepsy as well as those contributing to the association of epilepsy with NDDs. Comprehensive emphasis is put on some key neurodevelopmental genes implicated in epilepsy, such as MeCP2, SYNGAP1, FMR1, SHANK1-3 and TSC1, along with a few others, and the main electrophysiological and behavioral deficits are highlighted. For these genes, the progress made in developing appropriate and valid rodent models to accelerate basic research is also detailed. Further, we discuss the recent development in the therapeutic management of epilepsy and provide a briefing on the challenges and caveats in identifying and testing species-specific epilepsy models.

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53. Chakravarty MM. Variation in Neuroanatomy in Autism Spectrum Disorder. Biol Psychiatry;2022 (Oct 15);92(8):612-613.

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54. Chan N, Fenning RM, Neece CL. Prevalence and Phenomenology of Anxiety in Preschool-Aged Children with Autism Spectrum Disorder. Res Child Adolesc Psychopathol;2022 (Sep 1)

Individuals with autism spectrum disorder (ASD) are at a higher risk for developing co-occurring anxiety symptoms and diagnosable anxiety disorders compared to children with neurotypical development (NTD). The objective of the current study was to characterize the prevalence and phenomenology of anxiety in preschool-aged children with ASD. Our sample consisted of preschoolers (M = 52.8 months, SD = 10.8 months) with ASD (n = 77, 66% with co-occurring intellectual disability, ID) and NTD (n = 55). We employed multi-method (questionnaire and semi-structured diagnostic interview) and multi-informant (parent- and teacher-report) assessments of anxiety. Children with ASD were significantly more likely to meet criteria for an anxiety disorder than children with NTD. Over 70% of our sample with ASD met DSM-5 criteria for an anxiety disorder, with Specific Phobia and Separation Anxiety Disorder being the most prevalent. A range of specific fears was endorsed in the group with ASD, many of which overlapped with ASD symptoms. Parents, but not teachers, also reported greater anxiety symptoms for children with ASD relative to the comparison sample. Prevalence and phenomenology of anxiety in our sample with ASD generally did not differ between those with and without co-occurring ID, with the exception of higher rates of generalized anxiety in those without ID. Results showed poor concordance between parent questionnaires and a semi-structured diagnostic interview in detecting clinically-elevated anxiety in children with ASD. Implications for clinical practice and research are discussed.

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55. Chaudhary D, Bhat B, Shields GE, Davies LM, Green J, Verghis T, Roy R, Kumar D, Kakra M, Vajaratkar V, Lall G, Pandey S, Johri S, Shakeel S, Patel V, Juneja M, Gulati S, Divan G. Development of a cost of illness inventory questionnaire for children with autism spectrum disorder in South Asia. BMC Health Serv Res;2022 (Sep 8);22(1):1137.

BACKGROUND: The economic burden of autism is substantial and includes a range of costs, including healthcare, education, productivity losses, informal care and respite care, among others. In India, approximately, 2 million children aged 2-9 years have autism. Given the likely substantial burden of illness and the need to identify effective and cost-effective interventions, this research aimed to produce a comprehensive cost of illness inventory (COII) suitable for children with autism in South Asia (India) to support future research. METHODS: A structured and iterative design process was followed to create the COII, including literature reviews, interviews with caregivers, pilot testing and translation. Across the development of the COII, thirty-two families were involved in the design and piloting of the tool. The COII was forward translated (from English to Hindi) and back translated. Each stage of the process of development of the COII resulted in the further refinement of the tool. RESULTS: Domains covered in the final COII include education, childcare, relocation, healthcare contacts (outpatient, inpatient, medical emergencies, investigations and medication), religious retreats and rituals, specialist equipment, workshops and training, special diet, support and care, certification, occupational adjustments and government rebates/schemes. Administration and completion of the COII determined it to be feasible to complete in 35 minutes by qualified and trained researchers. The final COII is hosted by REDCap Cloud and is a bilingual instrument (Hindi and English). CONCLUSIONS: The COII was developed using experiences gathered from an iterative process in a metropolitan area within the context of one low- and middle-income country (LMIC) setting, India. Compared to COII tools used for children with autism in high-income country settings, additional domains were required, such as complimentary medication (e.g. religious retreats and homeopathy). The COII will allow future research to quantify the cost of illness of autism in India from a broad perspective and will support relevant economic evaluations. Understanding the process of developing the questionnaire will help researchers working in LMICs needing to adapt the current COII or developing similar questionnaires.

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56. Chawner S, Owen MJ. Autism: A model of neurodevelopmental diversity informed by genomics. Front Psychiatry;2022;13:981691.

Definitions of autism are constantly in flux and the validity and utility of diagnostic criteria remain hotly debated. The boundaries of autism are unclear and there is considerable heterogeneity within autistic individuals. Autistic individuals experience a range of co-occurring conditions notably including other childhood onset neurodevelopmental conditions such as intellectual disability, epilepsy and ADHD, but also other neuropsychiatric conditions. Recently, the neurodiversity movement has challenged the conception of autism as a medical syndrome defined by functional deficits. Whereas others have argued that autistic individuals with the highest support needs, including those with intellectual disability and limited functional communication, are better represented by a medical model. Genomic research indicates that, rather than being a circumscribed biological entity, autism can be understood in relation to two continua. On the one hand, it can be conceived as lying on a continuum of population variation in social and adaptive functioning traits, reflecting in large part the combination of multiple alleles of small effect. On the other, it can be viewed as lying on a broader neurodevelopmental continuum whereby rare genetic mutations and environmental risk factors impact the developing brain, resulting in a diverse spectrum of outcomes including childhood-onset neurodevelopmental conditions as well as adult-onset psychiatric conditions such as schizophrenia. This model helps us understand heterogeneity within autism and to reconcile the view that autism is a part of natural variability, as advocated by the neurodiversity movement, with the presence of co-occurring disabilities and impairments of function in some autistic individuals.

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57. Chen GZ, Chang WL, Tan WW, Lin YY, Huang LL, Chen M, Jiang JS, Chang TY, Shi Y. Research on PEP-3 psychological education evaluation system for disabled children and autistic children in minority areas. Eur Rev Med Pharmacol Sci;2022 (Aug);26(16):5786-5792.

OBJECTIVE: Rehabilitation of disabled children with autism has become a challenge for current rehabilitation centres. This study conducted psychological investigations on disabled children and analysed the symptoms and characteristics of autism in these children to develop more reasonable rehabilitation treatment plans that would help the children receive psychological counselling and effective rehabilitation. SUBJECTS AND METHODS: This study investigated 107 disabled children from the Disabled Rehabilitation Research Centre of the South China Minority Autonomous Region. Using the PEP-3 scale as a research tool, a questionnaire was developed to investigate and collect data on the mental health of disabled children. The survey was conducted from 2017 to 2021, and 107 children’s mental health data were collected in the form of questionnaires based on PEP-3 evaluation indicators. After cleaning the data, the questionnaire data were screened and processed. Descriptive statistical and correlation analysis tools were used for model analysis to understand the overall data distribution and the potential relationships among various data variables. RESULTS: The results of correlation analysis showed that cognition, language expression, language understanding, emotion, and social interaction in the subtest of developmental behaviour were the main indicators of the degree of autism in children. These indicators had a strong and significant correlation with the comprehensive score. Moreover, these indicators had a significant correlation with the individual self-care and adaptive behaviours reported by the children’s caregivers. Small muscles, big muscles, and imitation (vision and movement) indicators had a significant correlation with problematic behaviours and physical fitness, and language and cognitive indicators also had a strong correlation with emotion and social interaction. CONCLUSIONS: Emphasis should be placed on the improvement of the language and cognitive abilities of disabled children with autism, and corresponding rehabilitation plans, and training can be formulated according to children with different degrees of illness to get a better rehabilitation outcome. Further, identification of key indicators of autism will be of help in aiding the development of rehabilitation treatment for disabled children with autism and formulation of long-term rehabilitation plans.

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58. Chen Y, Ma K, Si H, Duan Y, Zhai H. Network pharmacology integrated molecular docking to reveals the autism and mechanism of Baohewan Heshiwei Wen Dan Tang. Curr Pharm Des;2022 (Sep 26)

BACKGROUND: In recent years, the prevalence and mortality of autism spectrum disorder (ASD) have been increasing. The clinical clinical features are different with different cases, so the treatment ways are necessary for each one. OBJECTIVE: Baohewan Heshiwei Wen Dan Tang (BHWDT) has been recommended for treating autistic spectrum disorder. To investigate the mechanism of action and how the compounds interact with ASD targets, network pharmacology and molecular docking methods were used in this study. METHODS: Traditional Chinese Medicine Systems Pharmacology (TCMSP) was used to screen the active components according to index of oral bio-activity and drug likeness. Then, TCMSP and Swiss Target Prediction databases were used to screen potential target genes of active components. The related target genes of ASD were obtained from the Gene Cards database. Matescape database was utilized to get gene ontology (GO) function enrichment and Kyoto Encyclopedia of Genes and Genomes pathway annotation of gene targets. Composition-target-pathway (C-T-P) and a protein-protein interaction (PPI) networks were built with Cytoscape 3.8.2 software. RESULTS: Interaction of the main active components of BHWDT were verified by the molecular docking. The key targets of MAPK1, IL6, CXCL8 and TP53 of BHWDT for were obtained. The key active components Quercetin, Kaempferol and Iuteolin of BHWDT could bind with MAPK1, IL6, CXCL8 and TP53 of BHWDT, respectively. CONCLUSION: BHWDT can be higher effectively for treating ASD and which can help us to understand multiple targets and multiple pathways mechanism.

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59. Chen YC, Lin HY, Chien Y, Tung YH, Ni YH, Gau SS. Altered gut microbiota correlates with behavioral problems but not gastrointestinal symptoms in individuals with autism. Brain Behav Immun;2022 (Sep 2);106:161-178.

BACKGROUND: Despite inconsistent results across studies, emerging evidence suggests that the microbial micro-environment may be associated with autism spectrum disorder (ASD). Geographical and cultural factors highly impact microbial profiles, and there is a shortage of data from East Asian populations. This study aimed to comprehensively characterize microbial profiles in an East Asian sample and explore whether gut microbiota contributes to clinical symptoms, emotional/behavioral problems, and GI symptoms in ASD. METHODS: We assessed 82 boys and young men with ASD and 31 typically developing controls (TDC), aged 6-25 years. We analyzed the stool sample of all participants with 16S V3-V4 rRNA sequencing and correlated its profile with GI symptoms, autistic symptoms, and emotional/behavioral problems. RESULTS: Autistic individuals, compared to TDC, had worse GI symptoms. There were no group differences in alpha diversity of species richness estimates (Shannon-wiener and Simpson diversity indices). Participants with ASD had an increased relative abundance of Fusobacterium, Ruminococcus torques group (at the genus level), and Bacteroides plebeius DSM 17135 (at the species level), while a decreased relative abundance of Ruminococcaceae UCG 013, Ervsipelotrichaceae UCG 003, Parasutterella, Clostridium sensu stricto 1, Turicibacter (at the genus level), and Clostridium spiroforme DSM 1552 and Intestinimonas butyriciproducens (at the species level). Altered taxonomic diversity in ASD significantly correlated with autistic symptoms, thought problems, delinquent behaviors, self dysregulation, and somatic complaints. We did not find an association between gut symptoms and gut microbial dysbiosis. CONCLUSIONS: Our findings suggest that altered microbiota are associated with behavioral phenotypes but not GI symptoms in ASD. The function of the identified microbial profiles mainly involves the immune pathway, supporting the hypothesis of a complex relationship between altered microbiome, immune dysregulation, and ASD that may advance the discovery of molecular biomarkers for ASD.

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60. Cheng L, Zhan L, Huang L, Zhang H, Sun J, Huang G, Wang Y, Li M, Li H, Gao Y, Jia X. The atypical functional connectivity of Broca’s area at multiple frequency bands in autism spectrum disorder. Brain Imaging Behav;2022 (Sep 26)

As a developmental disorder, autism spectrum disorder (ASD) has drawn much attention due to its severe impacts on one’s language capacity. Broca’s area, an important brain region of the language network, is largely involved in language-related functions. Using the Autism Brain Image Data Exchange (ABIDE) dataset, a mega-analysis was performed involving a total of 1454 participants (including 618 individuals with ASD and 836 healthy controls (HCs). To detect the neural pathophysiological mechanism of ASD from the perspective of language, we conducted a functional connectivity (FC) analysis with Broca’s area as the seed in multiple frequency bands (conventional: 0.01-0.08 Hz; slow-4: 0.027-0.073 Hz; slow-5: 0.01-0.027 Hz). We found that compared with HC, ASD patients demonstrated increased FC in the left thalamus, left precuneus, left anterior cingulate and paracingulate gyri, and left medial orbital of the superior frontal gyrus in the conventional frequency band (0.01-0.08 Hz). The results of the slow-5 frequency band (0.01-0.027 Hz) presented increased FC values of the left precuneus, left medial orbital of the superior frontal gyrus, right medial orbital of the superior frontal gyrus and right thalamus. No significant cluster was detected in the slow-4 frequency band (0.027-0.073 Hz). In conclusion, the abnormal functional connectivity in patients with ASD has frequency-specific properties. Furthermore, the slow-5 frequency band (0.01-0.027 Hz) mainly contributed to the findings of the conventional frequency band (0.01-0.08 Hz). The current study might shed new light on the neural pathophysiological mechanism of language impairments in people with ASD.

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61. Chhatbar K, Connelly J, Webb S, Kriaucionis S, Bird A. A critique of the hypothesis that CA repeats are primary targets of neuronal MeCP2. Life Sci Alliance;2022 (Dec);5(12)

The DNA-binding protein MeCP2 is reported to bind methylated cytosine in CG and CA motifs in genomic DNA, but it was recently proposed that arrays of tandemly repeated CA containing either methylated or hydroxymethylated cytosine are the primary targets for MeCP2 binding and function. Here we investigated the predictions of this hypothesis using a range of published datasets. We failed to detect enrichment of cytosine modification at genomic CA repeat arrays in mouse brain regions and found no evidence for preferential MeCP2 binding at CA repeats. Moreover, we did not observe a correlation between the CA repeat density near genes and their degree of transcriptional deregulation when MeCP2 was absent. Our results do not provide support for the hypothesis that CA repeats are key mediators of MeCP2 function. Instead, we found that CA repeats are subject to CAC methylation to a degree that is typical of the surrounding genome and contribute modestly to MeCP2-mediated modulation of gene expression in accordance with their content of this canonical target motif.

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62. Cho Y, Kim H. [A Predictive Model of Resilience in Mothers of Children with Developmental Disabilities]. J Korean Acad Nurs;2022 (Aug);52(4):407-420.

PURPOSE: This structural model study was constructed and verified a hypothetical model to examine the effects of parenting stress, social resources, family resources, and positive coping on resilience among mothers of children with developmental disabilities. METHODS: Data were collected using self-report structured questionnaires, from October 19 to October 30, 2018, with 214 mothers caring for children with developmental disabilities under the age of 20 years. RESULTS: In the fitness test results of the hypothesis model, with the fit index χ² (p) = 69.27 (< .001), and the normed fit indices (χ² = 1.87, GFI = .94, CFI = .97, NFI = .93, and TLI = .95, RMSEA = .06, SRMR = .06), this study satisfies the good fitness in standards. There are seven statistically significant paths among the 10 paths set in the hypothetical model. The explanatory power of parenting stress and social resources, which affects the family resources was 41.4%, the explanatory power of parenting stress, social resources, and family resources affecting the positive coping was 58.9%, and the explanatory power of parenting stress, social resources, family resources, and positive coping affecting resilience was 55.5%. CONCLUSION: Positive coping, family resources, and social resources of mothers of children with developmental disabilities directly affect their resilience, and parenting stress indirectly affects it. Therefore, to improve the resilience of mothers of children with developmental disabilities, it is necessary to develop a systematic nursing intervention that considers parenting stress, social resources, family resources, and positive coping.

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63. Chutko LS, Surushkina SY, Yakovenko EA. [Clinical and psychophysiological manifestations of dyscalculia in children]. Zh Nevrol Psikhiatr Im S S Korsakova;2022;122(9. Vyp. 2):62-67.

The article presents an overview of scientific publications devoted to the study of dyscalculia. Present-day data on the prevalence of this pathology, the features of the clinical picture, and theories of neurocognitive deficit underlying the disorder in the processing of numerical information are presented. The results of neurophysiological and neuroimaging studies devoted to the study of the features of the functional activity of various brain structures in dyscalculia are considered.

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64. Cicinelli G, Nobile E, Brighenti S, Bari S, Tonella E, Aresi A, Attanasio M, Mazza M, Valenti M, Keller R. Wechsler Intelligence Scale for Adults – Fourth Edition profiles of adults with autism spectrum disorder. Epidemiol Psychiatr Sci;2022 (Sep 23);31:e67.

AIM: In this study, we have compared 229 Wechsler Adults Intelligence Scale – Fourth Edition (WAIS-IV) cognitive profiles of different severity adults with autism spectrum disorder to verify the impact of several variables including sex, age, level of education and autism severity level in an Italian sample. Moreover, we wanted to find out the optimal cut points for the major intelligence quotients in order to discriminate autism severity levels. METHODS: Participants were recruited from two National Health System Center in two different Italian regions and were assessed with gold-standard instruments as a part of their clinical evaluation. According to DSM-5, cognitive domains were also measured with multi-componential tests. We used the Italian adaptation of WAIS-IV. We checked our hypotheses using linear regression models and receiver operating characteristics (ROC) curves. RESULTS: Our results showed that age and level of education have a strong impact on Verbal Comprehension (VCI) and Working Memory Indexes (WMI). Gender differences are relevant when considering the VCI and Processing Speed index (PSI) in which women obtained the best performance. These differences are still relevant when considering cut points of ROC because 69 resulted to be the optimal cut point for women, 65 for men. CONCLUSIONS: Few conclusions can be assumed only examining Full Scale Intelligence Quotient (FSIQ) scores as it includes many different information about broader cognitive abilities. Looking deeper at main indexes and their subtests findings are consistent with previous research on the disorder (moderate correlations of FSIQ, Perceptual Reasoning index, WMI and PSI with the participants’ age), while other results are unforeseen (no effect of sex found on FSIQ score) or novel (significant effect of education on VCI and WMI). Using an algorithm predicting optimal cut point for discriminating through autism severity levels can help clinicians to better label and quantify the required help a person may need, a test cannot replace diagnostic and clinical evaluation by experienced clinicians.

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65. Cleary M, West S, Kornhaber R, McLean L. Dispersed Responsibility of a Collective Problem: Autism, Suicidality and the Failure of Knowledge Translation. Issues Ment Health Nurs;2022 (Sep 26):1-6.

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66. Cleary M, West S, McLean L. From ‘Refrigerator Mothers’ to Empowered Advocates: The Evolution of the Autism Parent. Issues Ment Health Nurs;2022 (Sep 1):1-7.

A historical perspective offers a chance to reflect on unfolding narratives. The emergence of the diagnosis of autism attracted some positions of blame for « refrigerator mothers ». With ensuing neuroscience and developmental research and more nuanced biopsychosocial models, this gave way to notions of strong neurological contributions to the disorder and the positive role of parents supporting the regulation of their child. The notion of co-regulation then emerges with collective agency by parents to offer advocacy and support for those with ASD and their parents and an important role in educating society around the needs and value of those with ASD.

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67. Clifford P, Gevers C, Jonkman KM, Boer F, Begeer S. The effectiveness of an attention-based intervention for school-aged autistic children with anger regulating problems: A randomized controlled trial. Autism Res;2022 (Aug 31)

Anger regulation is a challenge for children with autism spectrum disorders (ASD). We investigated if attention-based cognitive behavioral treatment, based on mindfulness cognitive therapy (MBCT) and dialectical behavior therapy (DBT), reduces aggressive behavior and improves anger coping in school-aged autistic children (n = 51). Children were randomized to an active-control or a treatment condition. The treatment included nine weekly sessions attention-based individual therapy. Parents in both conditions received three weekly psychoeducation group sessions to heighten awareness of expressed emotion (EE). For aggressive behavior, treatment reduced temper tantrums and arguing. No effect was found on destroying things and physical violence. For anger coping, treatment increased adaptive coping strategies of diffusion and social support seeking, but had no effect on assertion, rumination, and maladaptive coping direct anger out and avoidance. Treatment did not impact secondary outcome measures concerning children’s quality of life (QoL) and parental stress-levels and psychological well-being. In conclusion, school-aged autistic children are able to acquire self-regulation skills reducing temper tantrums and arguing and increasing the use of adaptive anger coping strategies. The intervention shows potential to improve behavior and regulation, but little transfer to other domains. Limitations and future directions involving the child’s social environment, including parents, siblings, and teachers are discussed. LAY SUMMARY: Children on the autism spectrum often show aggressive behavior. Treatment can train children to be more aware of their emotions. This study found that this can help reducing temper tantrums and arguing and increasing some coping skills, though no impact was found on several other domains of aggression and coping.

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68. Como DH, Floríndez-Cox LI, Stein Duker LI, Polido JC, Jones BP, Lawlor M, Cermak SA. Oral Care Knowledge, Attitudes, and Practices of Black/African American Caregivers of Autistic Children and Non-Autistic Children. Children (Basel);2022 (Sep 19);9(9)

Oral health is a vital component of overall health. Children from underserved, minoritized populations (i.e., Black/African Americans, autistic children) are at even greater risk for experiencing oral health disparities. This study aims to illuminate the oral health knowledge, attitudes, and practices of Black/African American caregivers of autistic and non-autistic children. Black/African American caregivers of children (4-to-14 years) on the autism spectrum (n = 65) or not on the autism spectrum (n = 60), participated in a survey, with input from literature reviews, interviews, previous research, and reviews by experts. Caregivers demonstrated basic knowledge of oral health with significantly lower scores for caregivers of autistic children. Caregivers care about oral health and would like to increase their knowledge. Significant differences in oral care practices were found between the autistic and non-autistic groups. Caregivers reported they can access dental services with relative ease, including finding their child a dentist, scheduling a dental appointment, and accessing transportation (personal or public) to attend the visit. Black/African American caregivers of autistic children and children without autism seem to have foundational knowledge about oral health and basic practices; however, they are interested in learning more. Therefore, tailored oral health education programs may help mitigate oral health disparities for Black/African American families.

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69. Conner CM, Kim PS, White SW, Mazefsky CA. The role of emotion dysregulation and intolerance of uncertainty in autism: Transdiagnostic factors influencing co-occurring conditions. Res Dev Disabil;2022 (Nov);130:104332.

BACKGROUND: Individuals with autism spectrum disorders (ASD) are more likely to have co-occurring psychiatric conditions such as depression and anxiety. Transdiagnostic constructs such as intolerance of uncertainty (IU) and emotion dysregulation (ED) have both been shown to be individually associated with depression and anxiety in those with ASD. AIMS: The current study examined the relationship between IU and ED, depression, and anxiety in an ED treatment-seeking sample and examined whether ED acts as a mediator between IU-depression and IU-anxiety. METHODS AND PROCEDURES: We examined baseline scores for 78 adolescents and young adults (12-21 years old) who were participating in an ED treatment. We assessed for correlations between IU, Reactivity and Dysphoria, anxiety, and depression symptoms, and then conducted mediation analyses to determine whether Reactivity and Dysphoria functioned as a mediator in IU- anxiety and IU- depression relationships. OUTCOMES AND RESULTS: Concordant with prior research, ED, IU, anxiety, and depression scores were correlated. Both Reactivity and Dysphoria were found to mediate both IU-depression and IU-anxiety. CONCLUSIONS AND IMPLICATIONS: Findings suggest that ED contributes to how IU affects psychopathology. Furthermore, both IU and ED may be pertinent treatment targets for individuals with depression or anxiety and ASD.

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70. Conte L, Lupo R, Mazzarella C, Calabrò A, Vaglio L, Chirizzi S, Donadio C, Carvello M, Marsella A, Artioli G, Vitale E. Autism Spectrum Disorders and inclusion attitudes in the Italian school environments: teachers’ knowledge, attitudes, perceptions and their necessity to consult a healthcare multidisciplinary team. Acta Biomed;2022 (Aug 31);93(4):e2022284.

BACKGROUND: Schools play a key role in detecting early signs of autism and creating a targeted pathway of study and inclusion. This becomes complicated when faced with unknown situations, such as managing a student with Autism Spectrum Disorders (ASD). MATERIALS AND METHODS: A nationwide study involving teachers (n=235) was conducted from March to August 2021. The survey instrument consisted of a questionnaire administered online through social networks containing socio-demographic data, attitudes, knowledge and inclusion plans from school teachers towards students with ASD. RESULTS: Statistical significant differences were registered for the item no.13: among the main deficits caused by ADS are reduced social cognition, language abnormalities, and impaired sensory functioning. (p=.025); the item no.8 (p=.011): if an intervention works for one child with ASD, it is certain to work on another child with ASD; the item no.3(p=.002): genetic factors play an important role in the causes of ASD. By also considering teacher’s attitudes towards ASD according to the presence of a healthcare worker in the school environment, significant differences were registered for the item no.1 (p=.032): the interpretation that the diagnostic criteria for Asperger’s syndrome are the same as for high-functioning autism; the item no.6 (p=.025): children with ADS are very similar to each other, and the item no.7(p=.015): early intervention does not lead to additional benefits for children with ASD. CONCLUSIONS: The presence of professionals with advanced skills could be a benefit and represent a strong point in the application of measures of prevention and containment of community pathologies.

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71. Cooper K, Mandy W, Butler C, Russell A. Phenomenology of gender dysphoria in autism: a multiperspective qualitative analysis. J Child Psychol Psychiatry;2022 (Sep 12)

BACKGROUND: Autistic people are overrepresented in gender clinic settings, but limited evidence is available to guide clinical decision making for this patient group. We aimed to generate a comprehensive understanding of the phenomenology of gender dysphoria in autistic people. METHODS: We conducted a multi-perspectival interpretative phenomenological analysis (IPA), from five different perspectives; autistic young people and adults with experience of gender dysphoria, parents of young people, and clinicians working with autistic people with gender dysphoria in both adult and young person settings (n = 68). RESULTS: IPA analysis resulted in two themes, ‘discovering gender identity’ and ‘the complexities of moving towards gender comfort’. Participants agreed that there was often an interaction between gender dysphoria and features of autism such as sensory sensitivities. There was relative consensus across groups about the need for autism adaptations to be made in gender clinics. Autistic adults were more likely to see autism as an important identity than young people, but both groups were clear that autism did not impair their understanding of gender. In contrast, some parents and clinicians working with young people expressed concern that autism did impact self-understanding. DISCUSSION: While the groups tended to agree on the ways in which particular features of autism can compound gender dysphoria, there were a range of perspectives on the ways in which autism impacted on self-knowledge. CONCLUSION: Recommendations for adaptations when working with autistic people with gender dysphoria are presented.

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72. Cooper K, Russell AJ, Lei J, Smith LG. The impact of a positive autism identity and autistic community solidarity on social anxiety and mental health in autistic young people. Autism;2022 (Sep 4):13623613221118351.

Autism is a diagnosis given to individuals by professionals but is also increasingly seen as an identity which an individual can choose for themselves. We wanted to explore how having autism as an identity affects autistic young people. There is evidence that autistic adults have better psychological well-being when they feel more solidarity with other autistic people and feel positively about being autistic. We know that autistic teenagers often feel anxious in social situations. Having a positive autism identity might help alleviate social anxiety associated with being autistic. We wanted to find out if autistic young people who felt more solidarity with other autistic people, and had more positive feelings about autism, had better psychological well-being and less social anxiety. We asked 121 autistic people aged 15-22 years to complete some questionnaires. These questionnaires asked about the young person’s autism traits, social anxiety, and psychological well-being. The questionnaires also asked how satisfied they felt to be autistic (satisfaction) and how much solidarity they felt with the autism community (solidarity). We found that autistic young people who had higher autism satisfaction had better psychological well-being and lower social anxiety. Young people who felt more solidarity with other autistic people had higher psychological well-being. There was no association between autism solidarity and social anxiety. We conclude that is important to support autistic young people to develop positive feelings about autism and to feel solidarity with other autistic people.

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73. Cucinotta F, Vetri L, Ruta L, Turriziani L, Benedetto L, Ingrassia M, Maggio R, Germanò E, Alquino A, Siracusano R, Roccella M, Gagliano A. Impact of Three Kinds of Early Interventions on Developmental Profile in Toddlers with Autism Spectrum Disorder. J Clin Med;2022 (Sep 15);11(18)

Autism spectrum disorder is a neurodevelopmental disorder with a rising prevalence disorder. This high-cost/high-burden condition needs evidence-based behavioral treatments that are able to reduce the impact of symptoms on children’s functioning. This retrospective chart review study compared the impact of different types of early interventions on toddlers diagnosed with an autism spectrum disorder developmental profile. Analyses were conducted on 90 subjects (mean = 27.76 months, range 18-44 months; M:F = 4.29:1), of which 36 children underwent the usual treatment, 13 children underwent an intervention based on early intensive behavioral intervention (EIBI) and 41 children received the Early Start Denver Model, for one year, with the same weekly frequency of about 6 h a week. A significant decrease in the severity of autism symptoms was observed for all children when looking at the Ados-2 severity score (average difference = 3.05, SD = 0.71, p = < 0.001) and the Ados-2 social subscale (average difference = 2.87, SD = 0.59, p < 0.001). Otherwise, for most of the Griffiths subscales, we found a significant improvement only for those children who underwent the Early Start Denver Model intervention (General Quotient average difference = 14.47, SD = 3.22, corrected p < 0.001). Analyzing the influence of age on the investigated scores, we found a significant association with the Eye-hand Coordination Quotient (p = 0.003), Performance Quotient (p = 0.042) and General Quotient (p = 0.006). In all these domains, a mild negative correlation with age was observed, as measured by the Pearson’s correlation coefficient (r = -0.32, p = 0.002; r = -0.21, p = 0.044; r = -0.25, p = 0.019, respectively), suggesting less severe developmental skills at the start of treatment for older children. Our results are consistent with the literature that underlines the importance of early intervention, since prompt diagnosis can reduce the severity of autism symptoms; nevertheless, in toddlers, our study demonstrated that an intervention model based on naturalistic developmental behavioral principles such as the Early Start Denver Model is more effective on children’s developmental profile. Further studies are required to assess the extent of effectiveness of different early intervention models in community settings.

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74. Cui J, Xie H, He X. Evaluation of the Integrated Therapy Model in Preschool Education for Children with Autism Spectrum Disorder in China. J Autism Dev Disord;2022 (Sep 9)

The Integrated Therapy Model is a practice framework designed to promote multi-disciplinary collaboration to accommodate the holistic needs of children with special education needs. This study evaluated the effectiveness of the model adopted in a pilot preschool in China on children with autism spectrum disorder (ASD). A single-case, ABAB reversal design was employed with three children with ASD, and data were collected using direct observation and semi-structured interviews. The results demonstrated that while the model piloted in China was effective at improving fine motor ability, gross motor ability, imitation and problem behavior, it had mild to questionable effects on self-care and independent living capacity. The implications for the practice and for research on preschool interventions in mainland China is discussed.

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75. Dack R, Garstang JJ. Use of melatonin: a single-centre audit. BMJ Paediatr Open;2022 (Feb);6(1)

Sleep disorders in childhood are common. Melatonin is prescribed by UK community paediatricians to treat sleep disorders, but practice is not standardised. This audit reviewed melatonin prescribing within a community paediatric department in a 12-month period. 682 children received melatonin prescriptions; a random sample of 198 records were reviewed. The most common underlying condition was autism spectrum disorder (ASD) in 28%. 41% had no underlying diagnosis when melatonin was initiated and were waiting for neurodevelopmental/ASD assessment. 42% were on melatonin for at least 2 years. Further work is required to optimise melatonin prescribing practice for children and young people.

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76. Dahl V, Helmbrecht H, Rios Sigler A, Hildahl K, Sullivan H, Janakiraman S, Jasti S, Nance E. Characterization of a mGluR5 Knockout Rat Model with Hallmarks of Fragile X Syndrome. Life (Basel);2022 (Aug 25);12(9)

The number of reported cases of neurodevelopmental disorders has increased significantly in the last few decades, but the etiology of these diseases remains poorly understood. There is evidence of a fundamental link between genetic abnormalities and symptoms of autism spectrum disorders (ASDs), and the most common monogenetic inheritable form of ASDs is Fragile X Syndrome (FXS). Previous studies indicate that FXS is linked to glutamate signaling regulation by the G-protein-coupled metabotropic glutamate receptor 5 (mGluR5), which has been shown to have a regulatory role in neuroinflammation. We characterized the effect of knocking out mGluR5 in an organism known to have complex cognitive functions-the rat. The heterozygous phenotype is the most clinically relevant; therefore, we performed analysis in heterozygous pups. We showed developmental abnormalities in heterozygous mGluR5 knockout rats, as well as a significant increase in chemokine (C-X-C motif) ligand 1 (CXCL) expression, a hallmark indicator of early onset inflammation. We quantified an increase in microglial density in the knockout pups and quantified morphological phenotypes representative of greater reactivity in the male vs. female and postnatal day 28 heterozygous pups compared to postnatal day 14 heterozygous pups. In response to injury, reactive microglia release matrix metalloproteases, contribute to extracellular matrix (ECM) breakdown, and are responsible for eradicating cellular and molecular debris. In our study, the changes in microglial density and reactivity correlated with abnormalities in the mRNA expression levels of ECM proteins and with the density of perineuronal nets. We saw atypical neuropsychiatric behavior in open field and elevated plus tests in heterozygous pups compared to wild-type litter and age-matched controls. These results demonstrate the pathological potential of the mGluR5 knockout in rats and further support the presence of neuroinflammatory roots in ASDs.

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77. Daniolou S, Pandis N, Znoj H. The Efficacy of Early Interventions for Children with Autism Spectrum Disorders: A Systematic Review and Meta-Analysis. J Clin Med;2022 (Aug 30);11(17)

The superiority of early interventions for children with autism spectrum disorders (ASDs) compared to treatment as usual (TAU) has recently been questioned. This study was aimed to investigate the efficacy of early interventions in improving the cognitive ability, language, and adaptive behavior of pre-school children with ASDs through a systematic review of randomized controlled trials (RCTs). In total, 33 RCTs were included in the meta-analysis using the random effects model. The total sample consisted of 2581 children (age range: 12-132 months). Early interventions led to positive outcomes for cognitive ability (g = 0.32; 95% CI: 0.05, 0.58; p = 0.02), daily living skills (g = 0.35; 95% CI: 0.08, 0.63; p = 0.01), and motor skills (g = 0.39; 95% CI: 0.16, 0.62; p = 0.001), while no positive outcomes were found for the remaining variables. However, when studies without the blinding of outcome assessment were excluded, positive outcomes of early interventions only remained for daily living skills (g = 0.28; 95% CI: 0.04, 0.52; p = 0.02) and motor skills (g = 0.40; 95% CI: 0.11, 0.69; p = 0.007). Although early intervention might not have positive impacts on children with ASDs for several outcomes compared to controls, these results should be interpreted with caution considering the great variability in participant and intervention characteristics.

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78. Danis E, Nader AM, Degré-Pelletier J, Soulières I. Semantic and Visuospatial Fluid Reasoning in School-Aged Autistic Children. J Autism Dev Disord;2022 (Sep 22)

In light of the known visuoperceptual strengths and altered language skills in autism, we investigated the impact of problem content (semantic/visuospatial) combined with complexity and presence of lures on fluid reasoning in 43 autistic and 41 typical children (6-13 years old). Increased complexity and presence of lures diminished performance, but less so as the children’s age increased. Typical children were slightly more accurate overall, whereas autistic children were faster at solving complex visuospatial problems. Thus, reasoning could rely more extensively on visuospatial strategies in autistic versus typical children. A combined speed-accuracy measure revealed similar performance in both groups, suggesting a similar pace in fluid reasoning development. Visual presentation of conceptual information seems to suit the reasoning processes of autistic children.

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79. Dantas AMN, Santos-Rodrigues RCD, Silva Júnior JNB, Nascimento MNR, Brandão MAG, Nóbrega M. Nursing theories developed to meet children’s needs: a scoping review. Rev Esc Enferm USP;2022;56:e20220151.

OBJECTIVE: To map the nursing theories developed to meet children’s needs. METHOD: The JBI methodology and the PRISMA guided this scoping review. The search took place between October and November 2021, based on the PCC mnemonic: P (Population) – a child aged 0 to 9 years; C (Concept) – nursing theories; C (Context) – nursing. RESULTS: We identified 2,242 publications and selected 21 manuscripts consisting of nursing theories to meet children’s feeding needs, child pain, a child with asthma, diabetes, obesity, epilepsy, Congenital Zika Syndrome, autism spectrum disorder; theory for care in Intensive Care Units; health promotion to premature babies; procedures in Intensive Care Units; theory for nursing diagnosis ineffective breathing pattern in children with congenital heart disease; sleep associated with child development; parent-child interaction; nurse-child relationship; and child’s consultation. CONCLUSION: The nursing theories mapped have the potential to outline the course of nursing care to children’s needs highlighted in the studies that made up the sample.

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80. Davis R, Hampton SC, Fletcher-Watson S. Why study bilingualism in autistic people?. Autism;2022 (Oct);26(7):1601-1605.

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81. den Houting J, Higgins J, Isaacs K, Mahony J, Pellicano E. From ivory tower to inclusion: Stakeholders’ experiences of community engagement in Australian autism research. Front Psychol;2022;13:876990.

Autistic people, and other community stakeholders, are gaining increasing recognition as valuable contributors to autism research, resulting in a growing corpus of participatory autism research. Yet, we know little about the ways in which stakeholders practice and experience community engagement in autism research. In this study, we interviewed 20 stakeholders (academics, autistic people, family members/careers, research students, and service providers) regarding their experiences of community engagement in Australian autism research. Through reflexive thematic analysis of interview data, we generated four themes. First, our participants perceived academia as an « ivory tower, » disconnected from community members’ lives and priorities. Second, our participants identified that different stakeholders tended to hold different roles within their research projects: academics typically retained power and control, while community members’ roles tended toward tokenism. Third, our participants spoke of the need to « bridge the gap » between academia and the community, highlighting communication, accessibility, and planning as key to conducting effective participatory research. Lastly, participants emphasized the changing nature of autism research, describing participatory research as « the way of the future. » Our findings reflect both the progress achieved to date, and the challenges that lie ahead, as the field advances toward genuine co-production of autism research.

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82. Dhuga Y, Feeney Y, Gallaher L, White A, Wright J, Banerjee S, Daley S. Developing undergraduate autism education for medical students: a qualitative study. BMJ Paediatr Open;2022 (Aug);6(1)

BACKGROUND: Autistic adults and children experience considerable health inequalities and have high rates of premature mortality, hospital admissions and emergency department visits. This is in part due to a lack of autism awareness in the healthcare and social care workforce. A new educational programme, Time for Autism (TfA), for medical students is being developed to address this challenge. This qualitative study was undertaken to support the development of the new programme in order to (1) understand the medical care experiences of parents of autistic children and (2) assess their views on the acceptability of the new TfA programme and willingness to be involved. METHODS: A convenience sample of 11 parents of autistic children were recruited across the South of England. The ages of the autistic children ranged from 3 to 17 years. Semistructured interviews were completed between October and December 2019. Interview transcripts were analysed using thematic analysis. RESULTS: Three key themes were identified: diagnosis, experiences of doctors and TfA considerations. There was support for and willingness to take part in a dedicated autism education programme for medical students, and constructive feedback to inform and improve its delivery. CONCLUSION: The findings from this study provide insights into the medical care experiences of parents/carers of autistic children. Understanding how parents/carers of autistic children would like medical care to be improved can be used to develop TfA and other autism programmes. Parental/carer support for the development of and involvement in an autism medical education programme enhances the feasibility of the new programme.

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83. Dias-de Freitas F, Pimenta S, Soares S, Gonzaga D, Vaz-Matos I, Prior C. The role of cannabinoids in neurodevelopmental disorders of children and adolescents. Rev Neurol;2022 (Oct 1);75(7):189-197.

INTRODUCTION: Neurodevelopmental disorders have a multifactorial etiology that results from the interaction between biological and environmental factors. The biological basis of many of these disorders is only partially understood, which makes therapeutic interventions, especially pharmacological ones, particularly difficult. The impact of medical cannabis on neurological and psychiatric disorders has been studied for a long time. This study aimed to review the currently available clinical and pre-clinical studies regarding the use of cannabinoids in pediatric neurodevelopmental disorders and to draw attention to the potential therapeutic role of cannabidiol in this field. DEVELOPMENT: Cannabidiol is an endocannabinoid system modulator and exerts its effects on both developing and mature brains through numerous mechanisms. Cannabidiol holds a relatively high toxicity limit and current literature suggests that it may have anxiolytic, antipsychotic, and neuroprotective properties. Clinical evidence suggests that early treatment with cannabidiol might be a promising therapy for neurodevelopmental disorders, including intellectual disability, autism spectrum disorders, tics, and attention/deficit hyperactivity disorder. CONCLUSIONS: This review hopefully draws attention to an emerging body of evidence concerning cannabidiol’s significant potential to safely improve many of the common symptoms affecting children and adolescents with neurodevelopmental disorders, especially autism spectrum disorder.

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84. Dinishak J, Akhtar N. Integrating autistic perspectives into autism science: A role for autistic autobiographies. Autism;2022 (Sep 8):13623613221123731.

Autism science faces challenges in how to think about autism and what questions to focus on, and sometimes contributes to stigma against autistic people. We examine one way that non-autistic researchers may start to combat these challenges: by reading and reflecting on autistic people’s descriptions of their personal experiences (e.g. autobiographies) of what it is like to be autistic. In this article, we review some of the advantages and challenges of this approach and how it may help combat some of the challenges currently facing autism science by focusing studies on the questions autistic people find most important, counteracting stereotypes, and increasing understanding of autistic experiences.

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85. D’Mello AM, Frosch IR, Li CE, Cardinaux AL, Gabrieli JDE. Exclusion of females in autism research: Empirical evidence for a « leaky » recruitment-to-research pipeline. Autism Res;2022 (Aug 22)

Autism spectrum disorder (ASD) is characterized by challenges in social communication and the presence of repetitive behaviors or restricted interests. Notably, males are four times as likely as females to be diagnosed with autism. Despite efforts to increase representation and characterization of autistic females, research studies consistently enroll small samples of females, or exclude females altogether. Importantly, researchers often rely on standardized measures to confirm diagnosis prior to enrollment in research studies. We retrospectively analyzed the effects of one such measure (Autism Diagnostic Observation Schedule, ADOS) on research inclusion/exclusion rates by sex in autistic adults, all of whom had a preexisting community diagnosis of autism (n = 145, 95 male, 50 female). Using the ADOS as a confirmatory diagnostic measure resulted in the exclusion of autistic females at a rate over 2.5 times higher than that of autistic males. We compared sex ratios in our sample to those in other large, publically available datasets that rely either on community diagnosis (6 datasets, total n = 42,209) or standardized assessments (2 datasets, total n = 214) to determine eligibility of participants for research. Reliance on community diagnosis rather than confirmatory diagnostic assessments resulted in significantly more equal sex ratios. These results provide evidence for a « leaky » recruitment-to-research pipeline for females in autism research. LAY SUMMARY: Despite efforts to increase the representation of autistic females in research, studies consistently enroll small samples of females or exclude females altogether. We find that despite making up almost 50% of the initially recruited sample based upon self-report of community diagnosis, autistic females are disproportonately excluded from research participation as a result of commonly used autism diagnostic measures. In our sample, and several other publically available datasets, reliance on community diagnosis resulted in significantly more equal sex ratios.

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86. Dong C, Zhao C, Chen X, Berry K, Wang J, Zhang F, Liao Y, Han R, Orgurek S, Xu L, Zhang L, Lin Y, Zhou W, Xin M, Lim DA, Campbell K, Nakafuku M, Waclaw RR, Lu QR. Conserved and distinct functions of the autism-related chromatin remodeler CHD8 in embryonic and adult forebrain neurogenesis. J Neurosci;2022 (Sep 20)

The chromatin remodeler CHD8 represents a high-confidence risk factor in autism, a multistage progressive neurological disorder, however the underlying stage-specific functions remain elusive. In this study, by analyzing Chd8 conditional knockout mice (male and female), we find that CHD8 controls cortical neural stem/progenitor cell (NSC) proliferation and survival in a stage-dependent manner. Strikingly, inducible genetic deletion reveals that CHD8 is required for the production and fitness of transit-amplifying intermediate progenitors (IPCs) essential for upper-layer neuron expansion in the embryonic cortex. p53 loss-of-function partially rescue apoptosis and neurogenesis defects in the Chd8-deficient brain. Further, transcriptomic and epigenomic profiling indicates that CHD8 regulates the chromatin accessibility landscape to activate neurogenesis-promoting factors including TBR2, a key regulator of IPC neurogenesis, while repressing DNA damage- and p53-induced apoptotic programs. In the adult brain, CHD8 depletion impairs forebrain neurogenesis by impeding IPC differentiation from NSCs in both subventricular and subgranular zones, however, unlike in embryos, it does not affect NSC proliferation and survival. Treatment with an FDA-approved antidepressant fluoxetine partially restores adult hippocampal neurogenesis in Chd8-ablated mice. Together, our multistage functional studies identify temporally-specific roles for CHD8 in developmental and adult neurogenesis, pointing to a potential strategy to enhance neurogenesis in the CHD8-deficient brain.SIGNIFICANCE STATEMENT:The role of the high-confidence autism gene CHD8 in neurogenesis remains incompletely understood. Here, we identify a stage-specific function of CHD8 in development of neural stem/progenitors (NSC) in developing and adult brains by conserved, yet spatiotemporally distinct, mechanisms. In embryonic cortex, CHD8 is critical for the proliferation, survival, and differentiation of both NSC and intermediate progenitors (IPC) during cortical neurogenesis. In adult brain, CHD8 is required for IPC generation but not the proliferation and survival of adult NSCs. Treatment with an FDA approved antidepressant fluoxetine partially rescues the adult neurogenesis defects in CHD8-mutants. Thus, our findings help resolve CHD8 functions throughout life during embryonic and adult neurogenesis, and point to a potential avenue to promote neurogenesis in CHD8 deficiency.

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87. Doostparast Torshizi A, Wang K. Tissue-wide cell-specific proteogenomic modeling reveals novel candidate risk genes in autism spectrum disorders. NPJ Syst Biol Appl;2022 (Sep 6);8(1):31.

Autism spectrum disorders (ASD) are a set of complex neurodevelopmental diseases characterized with repetitive behavioral patterns and communication disabilities. Using a systems biology method called MAPSD (Markov Affinity-based Proteogenomic Signal Diffusion) for joint modeling of proteome dynamics and a wide array of omics datasets, we identified a list of candidate ASD risk genes. Leveraging the collected biological signals as well as a large-scale protein-protein interaction network adjusted based on single cell resolution proteome properties in four brain regions, we observed an agreement between the known and the newly identified candidate genes that are spatially enriched in neuronal cells within cerebral cortex at the protein level. Moreover, we created a detailed subcellular localization enrichment map of the known and the identified genes across 32 micro-domains and showed that neuronal cells and neuropils share the largest fraction of signal enrichment in cerebral cortex. Notably, we showed that the identified genes are among the transcriptional biomarkers of inhibitory and excitatory neurons in human frontal cortex. Intersecting the identified genes with a single cell RNA-seq data on ASD brains further evidenced that 20 candidate genes, including GRIK1, EMX2, STXBP6, and KCNJ3 are disrupted in distinct cell-types. Moreover, we showed that ASD risk genes are predominantly distributed in certain human interactome modules, and that the identified genes may act as the regulator for some of the known ASD loci. In summary, our study demonstrated how tissue-wide cell-specific proteogenomic modeling can reveal candidate genes for brain disorders that can be supported by convergent lines of evidence.

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88. Drapalik KN, Grodberg D, Ventola P. Feasibility and Acceptability of Delivering Pivotal Response Treatment for Autism Spectrum Disorder via Telehealth: Pilot Pre-Post Study. JMIR Pediatr Parent;2022 (Sep 6);5(3):e32520.

BACKGROUND: Pivotal response treatment (PRT), an evidence-based and parent-delivered intervention, is designed to improve social communication in autistic individuals. OBJECTIVE: The aim of this study was to assess the feasibility, acceptability, and clinical effects of an online model of PRT delivered via MindNest Health, a telehealth platform that aims to provide self-directed and engaging online modules, real-time coaching and feedback, and accessible stepped-care to large populations of parents seeking resources for their autistic children. METHODS: Male and female autistic children, aged 2-7 years with single-word to phrase-level speech, and their parents were eligible to participate in the study. Families were randomized to the online parent training condition or control condition. The online component of the intervention consisted of eight 20-minute online courses of content describing parent training principles in PRT. Four 1-hour videoconferences were held after course 1, course 3, course 5, and course 8. Parents were given 1-2 weeks to complete each course. Parents completed the Client Credibility Questionnaire (CCQ) at week 2 and at the study endpoint, as well as the Behavioral Intervention Rating Scale (BIRS) at the study endpoint to assess parental expectancies, and treatment acceptability and effectiveness. RESULTS: Nine of 14 participants completed the study curriculum in the online parent training condition, and 6 of 12 participants completed the control condition. Thus, a total of 58% (15/26) participants across both groups completed the study curriculum by study closure. Within the online parent training condition, there was a significant increase in mean CCQ total scores, from 25.38 (SD 3.25) at baseline to 27.5 (SD 3.74) at study endpoint (P=.04); mean CCQ confidence scores, from 6.0 (SD 1.07) at baseline to 6.75 (SD 0.89) at study endpoint (P=.02); and mean CCQ other improvement scores, from 5.25 (SD 0.89) at baseline to 6.25 (SD 1.28) at study endpoint (P=.009). Within the control condition, a modest increase in mean CCQ scores was noted (Confidence, difference=+0.25; Recommend, difference=+0.25; Total Score, difference=+0.50), but the differences were not statistically significant (Confidence P=.38, Recommend P=.36, Total Score P=.43). Among the 11 parents who completed the BIRS at the study endpoint, 82% (n=9) endorsed that they slightly agree or agree with over 93% of the Acceptability factor items on the BIRS. CONCLUSIONS: The feasibility of this online treatment is endorsed by the high rate of online module completion and attendance to videoconferences within the online parent training group. Acceptability of treatment is supported by strong ratings on the CCQ and significant improvements in scores, as well as strong ratings on the BIRS. This study’s small sample size limits the conclusions that can be drawn; however, the PRT MindNest Health platform holds promise to support parents of autistic children who are unable to access traditional, in-person parent-mediated interventions for their child.

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89. Ebrahimi A, Elhami Athar M, Ashouri A, Karimi S. Psychometric properties of the Persian version of the Autism-Spectrum Quotient (AQ-19) with Iranian university students. Bull Menninger Clin;2022 (Summer);86(3):204-222.

Studies suggest that autistic traits are widespread among the general population and, in this regard, the short form of the Autism-Spectrum Quotient (AQ), the AQ-28, was developed to measure autistic traits. The present study examines the factor structure, internal consistency, and convergent validity of the Persian version of the AQ-28 with 691 Iranian university students (M(age) = 28.67, SD = 8.57, 57.3% women) who were recruited online and completed the AQ-28 and Symptom Checklist (SCL-25) measures. Confirmatory factor analysis results yielded a four-factor model, which was internally consistent and demonstrated hypothesized correlations with the external correlates of interest (e.g., anxiety, depression, and phobia). Results support the Persian version of the AQ with 19 items (AQ-19) as a measure with sound psychometrics to be used in studies with Iranian university students.

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90. Ebrahimi P, Seyedmirzaei H, Moradi K, Bagheri S, Moeini M, Mohammadi MR, Akhondzadeh S. Cilostazol as adjunctive therapy in treatment of children with autism spectrum disorders: a double-blind and placebo-controlled randomized trial. Int Clin Psychopharmacol;2022 (Sep 15)

We aimed to evaluate cilostazol therapeutic effects on aberrant behaviors of autism spectrum disorder (ASD) children and its safety profile in a double-blind, randomized clinical trial. Sixty-six children with confirmed ASD were allocated to receive either daily 50-mg cilostazol (increased to 100 mg/day after 2 weeks) or matched placebo in addition to risperidone. The Aberrant Behavior Checklist-Community Edition (ABC-C) scale and a checklist of probable adverse effects were used to assess the behavioral outcomes and safety profile at weeks 0, 5, and 10 of the study. Sixty-one participants, with comparable baseline characteristics, completed the trial. Unlike other ABC-C subscales, repeated-measures analysis showed significant effect for time × treatment interaction in the hyperactivity subscale (P = 0.047; partial eta squared = 0.06). We used the median value for the baseline score hyperactivity subscale [median (interquartile range) = 31 (24-37)] to stratify participants to higher hyperactivity and lower hyperactivity subgroups and found that only participants with higher hyperactivity benefit from cilostazol adjunctive therapy (P = 0.028; partial eta squared = 0.14). Cilostazol could be considered as a safe agent with beneficial effects on hyperactivity in children with ASD and higher levels of hyperactivity.

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91. Edwards DJ. Going beyond the DSM in predicting, diagnosing, and treating autism spectrum disorder with covarying alexithymia and OCD: A structural equation model and process-based predictive coding account. Front Psychol;2022;13:993381.

BACKGROUND: There is much overlap among the symptomology of autistic spectrum disorders (ASDs), obsessive compulsive disorders (OCDs), and alexithymia, which all typically involve impaired social interactions, repetitive impulsive behaviors, problems with communication, and mental health. AIM: This study aimed to identify direct and indirect associations among alexithymia, OCD, cardiac interoception, psychological inflexibility, and self-as-context, with the DV ASD and depression, while controlling for vagal related aging. METHODOLOGY: The data involved electrocardiogram (ECG) heart rate variability (HRV) and questionnaire data. In total, 1,089 participant’s data of ECG recordings of healthy resting state HRV were recorded and grouped into age categories. In addition to this, another 224 participants completed an online survey that included the following questionnaires: Yale-Brown Obsessive Compulsive Scale (Y-BOCS); Toronto Alexithymia Scale 20 (TAS-20); Acceptance and Action Questionnaire (AAQII); Depression, Anxiety, and Stress Scale 21 (DAS21); Multi-dimensional Assessment of Interoceptive Awareness Scale (MAIA); and the Self-as-Context Scale (SAC). RESULTS: Heart rate variability was shown to decrease with age when controlling for BMI and gender. In the two SEMs produced, it was found that OCD and alexithymia were causally associated with autism and depression indirectly through psychological inflexibility, SAC, and ISen interoception. CONCLUSION: The results are discussed in relation to the limitations of the DSM with its categorical focus of protocols for syndromes and provide support for more flexible ideographic approaches in diagnosing and treating mental health and autism within the Extended Evolutionary Meta-Model (EEMM). Graph theory approaches are discussed in their capacity to depict the processes of change potentially even at the level of the relational frame.

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92. Eigsti IM, Fein DA. Insights from losing the autism diagnosis: Autism spectrum disorder as a biological entity. Front Psychiatry;2022;13:972612.

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93. Eni M, Gorodetski A, Dinstein I, Zigel Y. The Impact of Speaker Diarization on DNN-based Autism Severity Estimation. Annu Int Conf IEEE Eng Med Biol Soc;2022 (Jul);2022:3414-3417.

This paper presents a speech-based system for autism severity estimation combined with automatic speaker diarization. Speaker diarization was performed by two different methods. The first used acoustic features, which included Mel-Frequency Cepstral Coefficients (MFCC) and pitch, and the second used x-vectors – embeddings extracted from Deep Neural Networks (DNN). The speaker diarization was trained using a Fully Connected Deep Neural Network (FCDNN) in both methods. We then trained a Convolutional Neural Network (CNN) to estimate the severity of autism based on 48 acoustic and prosodic features of speech. One hundred thirty-two young children were recorded in the Autism Diagnostic Observation Schedule (ADOS) examination room, using a distant microphone. Between the two diarization methods, the MFCC and Pitch achieved a better Diarization Error Rate (DER) of 26.91%. Using this diarization method, the severity estimation system achieved a correlation of 0.606 (Pearson) between the predicted and the actual autism severity scores (i.e., ADOS scores). Clinical Relevance- The presented system identifies children’s speech segments and estimates their autism severity sc30:310ore.

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94. Erridge S, Kerr-Gaffney J, Holvey C, Coomber R, Barros DAR, Bhoskar U, Mwimba G, Praveen K, Symeon C, Sachdeva-Mohan S, Sodergren MH, Rucker JJ. Clinical outcome analysis of patients with autism spectrum disorder: analysis from the UK Medical Cannabis Registry. Ther Adv Psychopharmacol;2022;12:20451253221116240.

INTRODUCTION: Cannabis-based medicinal products (CBMPs) have been identified as a promising novel therapeutic for symptoms and comorbidities related to autism spectrum disorder (ASD). However, there is a paucity of clinical evidence of their efficacy and safety. Objective: This case series aims to assess changes to health-related quality of life and the incidence of adverse events in patients treated with CBMPs for associated symptoms of ASD enrolled on the UK Medical Cannabis Registry (UKMCR). METHODS: Patients treated with CBMPs for ASD-related symptoms for a minimum of 1 month were identified from the UKMCR. Primary outcomes were changes in validated patient-reported outcome measures [Generalised Anxiety Disorder-7 (GAD-7), Single-Item Sleep Quality Scale (SQS), 5-level version of the EQ-5D (EQ-5D-5L) index values] at 1, 3 and 6 months compared with baseline. Adverse events were recorded and analysed. Statistical significance was determined by p < 0.050. RESULTS: Seventy-four patients with ASD were included in the analysis. The mean age of participants was 32.7 (±11.6) years. There were significant improvements in general health-related quality of life and sleep as assessed by the EQ-5D-5L, SQS and GAD-7 at 1 and 3 months, with sustained changes in EQ-5D-5L and SQS at 6 months (p < 0.010). There were 180 (243.2%) adverse events reported by 14 (18.9%) participants. If present, adverse events were commonly mild (n = 58; 78.4%) or moderate (n = 81; 109.5%), rather than severe (n = 41; 55.4%). CONCLUSION: This study demonstrated an associated improvement in general health-related quality of life, and anxiety- and sleep-specific symptoms following initiation of treatment with CBMPs in patients with ASD. These findings, while promising, are limited by the confines of the study which lacks a control arm and is subject to attrition bias. Therefore, further evaluation is required with randomised controlled trials.

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95. Escolano-Pérez E, Acero-Ferrero M. Evaluating in the Real-World Educational Intervention to Improve Interference Control in Children with Autism Spectrum Disorder. Children (Basel);2022 (Aug 26);9(9)

Children with autism spectrum disorder (ASD) present deficiencies in interference control processes. The main aim of this pilot study was to analyze the efficacy of an educational intervention designed to optimize the interference control of eight ASD children, attending to their ASD severity level. A mixed-methods approach grounded in systematic observation and nomothetic/follow-up/multidimensional observational designs was used. An observation instrument was developed to code data, which were grouped according to the ASD severity level (Group 1, requires support; Group 2, requires substantial support) and were analyzed using a lag sequential analysis. The results show that, although both groups progressed during the intervention and could have continued to improve, each group evolved differently. Group 1 performed relatively well from the onset and increased and developed their interference control strategies throughout the intervention, while Group 2, despite also acquiring new interference control strategies, took more time to show improvements. One month after the intervention ended, both groups were unable to consolidate the strategies learned. A mixed-methods approach allowed for real interference control deficits in ASD children to be captured in a natural context. To conclude, it would be necessary to lengthen this intervention and adapt it to the needs of each group.

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96. F NG, Brennan A, Bolshakova N, Foley M, Gallagher L, Lopez LM. Establishing an Irish autism research network. Ir J Psychol Med;2022 (Sep 15):1-2.

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97. Fabio RA, Chiarini L, Canegallo V. Pain in Rett syndrome: a pilot study and a single case study on the assessment of pain and the construction of a suitable measuring scale. Orphanet J Rare Dis;2022 (Sep 14);17(1):356.

BACKGROUND: Rett Syndrome (RTT) is a severe, neurodevelopmental disorder mainly caused by mutations in the MECP2 gene, affecting around 1 in 10,000 female births. Severe physical, language, and social impairments impose a wide range of limitations in the quality of life of the patients with RTT. Comorbidities of patients with RTT are varied and cause a lot of pain, but communicating this suffering is difficult for these patients due to their problems, such as apraxia that does not allow them to express pain in a timely manner, and their difficulties with expressive language that also do not permit them to communicate. Two studies, a pilot study and a single case study, investigate the manifestation of pain of patients with RTT and propose a suitable scale to measure it. AIMS OF THIS STUDY: The first aim was to describe pain situations of RTT by collecting information by parents; the second aim was to test and compare existing questionnaires for non-communicating disorders on pain such as Pain assessment in advanced demenzia (PAINAD), the Critical care pain observation tool (CPOT) and the Non-communicating Children’s Pain Checklist-Revised (NCCPC-R) to assess which of them is best related to the pain behavior of patients with RTT. The third aim was to identify the specific verbal and non-verbal behaviors that characterize pain in girls with Rett syndrome, discriminating them from non-pain behaviors. METHOD: Nineteen participants, eighteen girls with RTT and one girl with RTT with 27 manifestations of pain were video-recorded both in pain and base-line conditions. Two independent observers codified the 90 video-recording (36 and 54) to describe their behavioral characteristics. RESULTS: The two studies showed that the most significant pain behaviors expressed by girls with respect to the baseline condition, at the facial level were a wrinkled forehead, wide eyes, grinding, banging teeth, complaining, making sounds, crying and screaming, and the most common manifestations of the body were tremors, forward and backward movement of the torso, tension in the upper limbs, increased movement of the lower limbs and a sprawling movement affecting the whole body. CONCLUSION: The results of the two studies helped to create an easy-to-apply scale that healthcare professionals can use to assess pain in patients with Rett’s syndrome. This scale used PAINAD as its basic structure, with some changes in the items related to the behavior of patients with RTT.

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98. Faizo NL. A narrative review of MRI changes correlated to signs and symptoms of autism. Medicine (Baltimore);2022 (Aug 26);101(34):e30059.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that occurs during early childhood. The change from being normal across several contexts to displaying the behavioral phenotype of ASD occurs in infants and toddlers with autism. Findings provided by magnetic resonance imaging (MRI)-based research owing to the developmental phase, including potential pathways underlying the pathogenesis of the condition and the potential for signs and symptomatic risk prediction. The present study focuses on the characteristic features of magnetic resonance imaging autistic brain, how these changes are correlated to autism signs and symptoms and the implications of MRI as a potential tool for the early diagnosis of ASD. PRISMA style was used to conduct this review. Research articles related to the key concepts of this review, which is looking at MRI brain changes in autistic patients, were revised and incorporated with what is known with the pathophysiology of brain regions in relation to signs and symptoms of autism. Studies on brain MRI of autism were revied for major brain features and regions such as brain volume, cortex and hippocampus. This review reveals that brain changes seen in MRI are highly correlated with the signs and symptoms of autism. There are numerous distinct features noted in an autistic brain using MRI. Based on these findings, various developmental brain paths and autistic behavior culminate in a typical diagnosis, and it is possible that addressing these trajectories would improve the accuracy in which children are detected and provide the necessary treatment.

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99. Ferguson J, Dounavi K, Craig EA. Correction to: The Efficacy of Using Telehealth to Coach Parents of Children with Autism Spectrum Disorder on How to Use Naturalistic Teaching to Increase Mands, Tacts and Intraverbals. J Dev Phys Disabil;2022 (Sep 9):1-4.

[This corrects the article DOI: 10.1007/s10882-022-09859-4.].

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100. Fielding-Gebhardt H, Swinburne Romine R, Bredin-Oja S, Brady N, Warren SF. Maternal well-being and family adaptation during COVID-19 in fragile X syndrome. Front Psychiatry;2022;13:952118.

Mothers of children with fragile X syndrome are at increased risk of experiencing anxiety and depression due to potential genetic risk and to stress associated with parenting a child with significant behavioral, emotional, and educational support needs. During the initial shutdown and subsequent restrictions of the COVID-19 pandemic, mothers of children with fragile X reported experiencing elevated levels of anxiety and depression relative to their usual levels of well-being. Many indicated that the negative consequences of exposure to COVID-19 and related stressors, as well as the impacts of the pandemic on their family, directly affected their anxiety and depression. Mothers reported on specific sources of distress as well as potential sources of resilience and positive adaptation that occurred during the first year of the COVID-19 pandemic.

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101. Flavell J, Franklin C, Nestor PJ. A Systematic Review of Fragile X-Associated Neuropsychiatric Disorders. J Neuropsychiatry Clin Neurosci;2022 (Sep 29):appineuropsych21110282.

OBJECTIVE: Fragile X premutation carriers are reported to have increased neuropsychiatric problems, and thus the term fragile X-associated neuropsychiatric disorders (FXAND) has been proposed. Unfortunately, published prevalence estimates of these phenomena are inconsistent. This systematic review clarified this issue by reviewing both fragile X premutation prevalence in patients with neurodevelopmental disorders and psychiatric disorder prevalence in premutation carriers without fragile X-associated tremor/ataxia syndrome (FXTAS). Average prevalence was derived from studies that used semistructured clinical interviews, diagnostic criteria, and validated rating scales. METHODS: Forty-six studies were reviewed. The rate of fragile X premutation in neurodevelopmental disorders was assessed from five studies. Probands with neurodevelopmental disorders were more likely than those in the general population to be premutation carriers. The rate of psychiatric disorders in premutation carriers was assessed from five studies for neurodevelopmental, 13 studies for mood, 12 studies for anxiety, and two studies for psychotic disorders. The phenotype and sex distribution among premutation carriers were similar to those with fragile X syndrome. RESULTS: Compared to control group and general population estimates, the most prevalent psychiatric disorders were neurodevelopmental disorders, anxiety disorders, and bipolar II disorder. Psychiatric disorders were also more common in males. Most studies relied only on past medical history to define the prevalence of psychiatric disorders, yielding variability in results. CONCLUSIONS: Future studies are needed to avoid bias by identifying cohorts from population-based sampling, to describe cohort demographic characteristics to elucidate differences in age and sex, and to prioritize the use of validated psychiatric assessment methods.

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102. Fox L, Asbury K, Code A, Toseeb U. Parents’ perceptions of the impact of COVID-19 and school transition on autistic children’s friendships. Autism;2022 (Sep 6):13623613221123734.

Research shows that moving schools can be a challenging time for autistic children and young people. One factor that has been found to support successful transition is friendships. However, there is little research exploring how transition between schools affects autistic children’s friendships, and even less on how children’s relationships during transition have been impacted by COVID-19. Fourteen parents of autistic children and young people were interviewed about their child’s move to a new school and the impact they felt this had on their friendships. Parents described how moving with existing friends helped some children to find the transition less challenging. Others had differing experiences, with their children’s friendships playing a much smaller role in the move. Differences were also seen with regard to the impact of COVID-19, with some parents speaking of how hard being away from friends was for their child, while others found the social restrictions a welcome break from interacting with peers. The study highlights how different the experiences of autistic individuals, and their parents, can be and the importance of a child-centred approach to transition support.

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103. Fredskild MU, Engell R, Kessing LV. [Bipolar affective disorder in autism spectrum disorder]. Ugeskr Laeger;2022 (Aug 15);184(33)

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with a global prevalence of approximately 1%. This review summarises new evidence of association between bipolar disorder (BD) and ASD. The mood episodes of BD can present atypically in people with ASD, potentially leading to misdiagnosis. Anamnesis regarding family history of affective disorders as well as previous mood episode is important among people with ASD to capture the BD diagnosis. Precaution with SSRI-treatment among people with ASD is crucial as the treatment can potentially trigger a mood episode of an underlying BD.

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104. Freeman M, Crawford A, Gough L, Rianto M, Yakubov R, Rampton G, FitzGerald E, Fang H, Di Rezze B. Examining the development and utilization of infection control policies to safely support adults with intellectual and developmental disabilities in congregate living settings during COVID-19. Can J Public Health;2022 (Sep 6):1-12.

OBJECTIVE: Congregate living settings supporting individuals with intellectual and developmental disabilities (IDD) have experienced unprecedented challenges during the COVID-19 pandemic. This study aimed to explore the development and utilization of infection control policies in congregate living settings supporting individuals with IDD during the COVID-19 pandemic. METHODS: This qualitative study employed an interpretive description using semi-structured interviews involving administrative personnel from agencies assisting those with IDD residing in Developmental Services congregate living settings in Ontario, Canada. RESULTS: Twenty-two semi-structured interviews were conducted with individuals from 22 agencies. Thematic analysis revealed three categories: Development of infection control policies, Implementation of infection control policies, and Impact of infection control policies. Each category yielded subsequent themes. Themes from the Development of infection control policies category included New responsibilities and interpreting the grey areas, and Feeling disconnected and forgotten. Four themes within the Implementation of infection control policies category included, « It’s their home » (i.e. difficulty balancing public health guidance and organizational values), Finding equipment and resources (e.g. supports and barriers), Information overload (i.e. challenges agencies faced when implementing policies), and Emerging vaccination (i.e. perspective of agencies as they navigate vaccination for clients and staff). The category of Impact of infection control policies had one theme-Fatigue and burnout, capturing the impact of policies on stakeholders in congregate living settings. CONCLUSION: Agencies experienced difficulties developing and implementing infection control policies, impacting the clients they serve and their families and staff. Public health guidance should be tailored to each congregate living setting rather than generally applied.

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105. Fry R, Li X, Evans TC, Esterman M, Tanaka J, DeGutis J. Investigating the Influence of Autism Spectrum Traits on Face Processing Mechanisms in Developmental Prosopagnosia. J Autism Dev Disord;2022 (Sep 29)

Autism traits are common exclusionary criteria in developmental prosopagnosia (DP) studies. We investigated whether autism traits produce qualitatively different face processing in 43 DPs with high vs. low autism quotient (AQ) scores. Compared to controls (n = 27), face memory and perception were similarly deficient in the high- and low-AQ DPs, with the high-AQ DP group additionally showing deficient face emotion recognition. Task-based fMRI revealed reduced occipito-temporal face selectivity in both groups, with high-AQ DPs additionally demonstrating decreased posterior superior temporal sulcus selectivity. Resting-state fMRI showed similar reduced face-selective network connectivity in both DP groups compared with controls. Together, this demonstrates that high- and low-AQ DP groups have very similar face processing deficits, with additional facial emotion deficits in high-AQ DPs.

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106. Fujimoto T, Fukuzawa E, Tatehara S, Satomura K, Ohya J. Automatic Diagnosis of Early-Stage Oral Cancer and Precancerous Lesions from ALA-PDD Images Using GAN and CNN. Annu Int Conf IEEE Eng Med Biol Soc;2022 (Jul);2022:2161-2164.

A screening system for early-stage oral cancer and precancerous lesions should be established because it is difficult to detect them even for specialists and they are often detected too late. In this paper, we propose a method for automatically classifying fluorescence images acquired by ALA-PDD (Photodynamic Diagnosis using 5-Aminolevulinic Acid) into three classes: Normal, Low-Risk, High-Risk. We augment a small image dataset by training GAN (Generative adversarial networks) with Differentiable Augmentation, and then train CNN (Convolutional Neural Network) for the classification by the augmented dataset. Experimental results show good classification results, which suggest that the combination of ALA-PDD and CNN classification is a promising method for oral cancer screening. Clinical Relevance- The method proposed in this paper has a potential to be used as a screening method for early-stage oral cancer and precancerous lesions, that is non-invasive, accurate, easy to use, and does not require specialization.

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107. Gaines AG. The Grief Experiences of Children with Developmental Disabilities: A Narrative Literature Review. Omega (Westport);2022 (Sep 22):302228221124520.

BACKGROUND: Children with developmental disabilities have wide-ranging social, developmental, and communication challenges impacting their grieving process. This narrative review examined the literature relating to the grief experiences of children with developmental disabilities to identify implications for practice and areas for future research. METHODS: The literature review was conducted using five databases, and a hand search of dissertations with original research, due to the sparse body of published works. RESULTS: Nine works were included in the review, which were thematically synthesized into three categories: (1) Understanding of death concepts, (2) Social-emotional responses to loss, and (3) Disenfranchised grief. CONCLUSIONS: Children with developmental disabilities are affected by loss, even if their comprehension of death concepts is impacted by their level of disability. They may experience challenges due to changes in routines and concrete thinking, and are at risk of disenfranchised grief. Future research is needed to inform developmentally appropriate grief interventions.

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108. Galán-Vidal J, Socuéllamos PG, Baena-Nuevo M, Contreras L, González T, Pérez-Poyato MS, Valenzuela C, González-Lamuño D, Gandarillas A. A novel loss-of-function mutation of the voltage-gated potassium channel Kv10.2 involved in epilepsy and autism. Orphanet J Rare Dis;2022 (Sep 6);17(1):345.

BACKGROUND: Novel developmental mutations associated with disease are a continuous challenge in medicine. Clinical consequences caused by these mutations include neuron and cognitive alterations that can lead to epilepsy or autism spectrum disorders. Often, it is difficult to identify the physiological defects and the appropriate treatments. RESULTS: We have isolated and cultured primary cells from the skin of a patient with combined epilepsy and autism syndrome. A mutation in the potassium channel protein Kv10.2 was identified. We have characterised the alteration of the mutant channel and found that it causes loss of function (LOF). Primary cells from the skin displayed a very striking growth defect and increased differentiation. In vitro treatment with various carbonic anhydrase inhibitors with various degrees of specificity for potassium channels, (Brinzolamide, Acetazolamide, Retigabine) restored the activation capacity of the mutated channel. Interestingly, the drugs also recovered in vitro the expansion capacity of the mutated skin cells. Furthermore, treatment with Acetazolamide clearly improved the patient regarding epilepsy and cognitive skills. When the treatment was temporarily halted the syndrome worsened again. CONCLUSIONS: By in vitro studying primary cells from the patient and the activation capacity of the mutated protein, we could first, find a readout for the cellular defects and second, test pharmaceutical treatments that proved to be beneficial. The results show the involvement of a novel LOF mutation of a Potassium channel in autism syndrome with epilepsy and the great potential of in vitro cultures of primary cells in personalised medicine of rare diseases.

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109. Gallant C, Roudbarani F, Ibrahim A, Maddox BB, Weiss JA. Clinician Knowledge, Confidence, and Treatment Practices in Their Provision of Psychotherapy to Autistic Youth and Youth with ADHD. J Autism Dev Disord;2022 (Sep 9)

Autistic youth have an increased risk of mental health problems. Despite the efficacy of various psychotherapeutic approaches for autistic youth, they often do not receive these interventions. Research is needed to identify patterns of effective treatment for autistic youth and whether they differ from those used for youth with other neurodevelopmental conditions (e.g., attention-deficit hyperactivity disorder; ADHD). We compared clinicians’ (N = 557) knowledge, confidence and practices when treating autistic youth and youth with ADHD. Although ratings were moderately high overall and similar interventions were used for both groups, clinicians were significantly less knowledgeable and confident when supporting autistic clients compared to clients with ADHD. Thus, improving clinician perspectives may help facilitate treatment for autistic youth with mental health problems.

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110. Gardella B, Dominoni M, Scatigno AL, Cesari S, Fiandrino G, Orcesi S, Spinillo A. What is known about neuroplacentology in fetal growth restriction and in preterm infants: A narrative review of literature. Front Endocrinol (Lausanne);2022;13:936171.

The placenta plays a fundamental role during pregnancy for fetal growth and development. A suboptimal placental function may result in severe consequences during the infant’s first years of life. In recent years, a new field known as neuroplacentology has emerged and it focuses on the role of the placenta in fetal and neonatal brain development. Because of the limited data, our aim was to provide a narrative review of the most recent knowledge about the relation between placental lesions and fetal and newborn neurological development. Papers published online from 2000 until February 2022 were taken into consideration and particular attention was given to articles in which placental lesions were related to neonatal morbidity and short-term and long-term neurological outcome. Most research regarding the role of placental lesions in neurodevelopment has been conducted on fetal growth restriction and preterm infants. Principal neurological outcomes investigated were periventricular leukomalacia, intraventricular hemorrhages, neonatal encephalopathy and autism spectrum disorder. No consequences in motor development were found. All the considered studies agree about the crucial role played by placenta in fetal and neonatal neurological development and outcome. However, the causal mechanisms remain largely unknown. Knowledge on the pathophysiological mechanisms and on placenta-related risks for neurological problems may provide clues for early interventions aiming to improve neurological outcomes, especially among pediatricians and child psychiatrists.

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111. Garrido D, Beretta S, Grabrucker S, Bauer HF, Bayer D, Sala C, Verpelli C, Roselli F, Bockmann J, Proepper C, Catanese A, Boeckers TM. Shank2/3 double knockout-based screening of cortical subregions links the retrosplenial area to the loss of social memory in autism spectrum disorders. Mol Psychiatry;2022 (Sep 13)

Members of the Shank protein family are master scaffolds of the postsynaptic architecture and mutations within the SHANK genes are causally associated with autism spectrum disorders (ASDs). We generated a Shank2-Shank3 double knockout mouse that is showing severe autism related core symptoms, as well as a broad spectrum of comorbidities. We exploited this animal model to identify cortical brain areas linked to specific autistic traits by locally deleting Shank2 and Shank3 simultaneously. Our screening of 10 cortical subregions revealed that a Shank2/3 deletion within the retrosplenial area severely impairs social memory, a core symptom of ASD. Notably, DREADD-mediated neuronal activation could rescue the social impairment triggered by Shank2/3 depletion. Data indicate that the retrosplenial area has to be added to the list of defined brain regions that contribute to the spectrum of behavioural alterations seen in ASDs.

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112. Ghirardo S, Sabatini L, Onofri A, Testa MBC, Paglietti MG, Diodato D, Travaglini L, Stregapede F, Ciofi Degli Atti ML, Cherchi C, Cutrera R. Hypoventilation and sleep hypercapnia in a case of congenital variant-like Rett syndrome. Ital J Pediatr;2022 (Sep 7);48(1):167.

BACKGROUND: Breathing disturbances are often a primary clinical concern especially during wakefulness of the classic form of Rett syndrome, but data for atypical forms are lacking. CASE PRESENTATION: We report the case of a 20-month-old female affected by Rett syndrome with congenital variant-like onset, characterized by severe hypotonia and neurodevelopment impairment. She presented hypoventilation, persistent periodic breathing, and sustained desaturation during sleep, without obstructive or mixed events. Pulse oximetry and capnography during wakefulness were strictly normal. To the best of our knowledge, this is the first case of a patient affected by a congenital variant of Rett syndrome presenting sleep hypercapnia. Hypotonia may play a major role in the genesis of hypoventilation and hypoxemia in our patient. Non-invasive ventilation led to quality-of-life improvements. CONCLUSIONS: Thus, we suggest screening patients with congenital-like Rett syndrome through transcutaneous bedtime carbon dioxide and oxygen monitoring. Moreover, assisted control mode was a breakthrough to achieve adequate ventilation in our case.

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113. Gimlette S, Stapleton E. The Interface of Paediatric ENT and Autistic Spectrum Disorder: a Complex Conundrum for Otolaryngologists. J Laryngol Otol;2022 (Sep 8):1-26.

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114. Girolamo T, Rice ML. Language Impairment in Autistic Adolescents and Young Adults. J Speech Lang Hear Res;2022 (Sep 12);65(9):3518-3530.

PURPOSE: Little is known about the specific nature of language abilities of autistic adolescents and young adults with language impairment (LI), limiting our knowledge of developmental trajectories and ability to develop efficacious speech/language supports. An important first step is establishing proof of concept of identification of LI in this population, with considerations for feasibility of assessment. This research note describes such a study in a sample of autistic adolescents and young adults with LI. METHOD: Thirteen autistic adolescents and young adults completed an assessment protocol of age-referenced language and nonverbal cognitive assessments. Assessment took place once per year for 3 years; the first two assessments were conducted in person, and the final was conducted online due to the pandemic. All assessments included measures of overall language and morphosyntax; the third added measures of expressive and receptive vocabulary, verbal working memory, and nonverbal intelligence (NVIQ). Analysis included descriptives and comparison of individual performance with epidemiological criteria for LI. RESULTS: All participants qualified for LI, with overall receptive and expressive language scores persistently in the LI range. Other outcomes were variable. Some participants had nonword repetition and vocabulary abilities within age expectations, and some consistently showed adultlike morphosyntactic performance. NVIQ was variable, with no consistent associations with language outcomes. DISCUSSION: Our findings support the use of the current protocol, as implemented in person or online, to identify LI in autistic adolescents and young adults. This exploratory work is limited by a small sample and missing data. The findings contribute to our understanding of linguistic strengths and variability in the language skills of autistic young adults with LI.

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115. Golan O, Terner M, Israel-Yaacov S, Allison C, Baron-Cohen S. The Autism-Spectrum Quotient-Hebrew version: Psychometric properties of a full and a short form, adapted for DSM-5. Autism;2022 (Sep 2):13623613221117020.

Despite the attempt to diagnose autism at an early age, there are still many individuals who would only get an autism diagnosis in adulthood. For these adults, a questionnaire that could assist in highlighting their need to seek diagnostic assessment is needed. The Autism-Spectrum Quotient is a self-report scale used to assess autistic traits. It was tested cross-culturally, and a short version was recommended to help identify adults who should be referred for an autism assessment. However, its relevance for the up-to-date diagnostic criteria, according to the Diagnostic and Statistical Manual of Mental Disorders (5th ed.), has not been tested. This study aimed to examine the psychometric properties of the Hebrew version of the Autism-Spectrum Quotient and to create a short version of the Hebrew Autism-Spectrum Quotient, based on items which map on to Diagnostic and Statistical Manual of Mental Disorders (5th ed.) criteria. Ninety-three autistic adults (24 females), aged 18-51, clinically diagnosed according to Diagnostic and Statistical Manual of Mental Disorders (5th ed.), and 147 comparable controls (34 females) filled out the Hebrew version of the Autism-Spectrum Quotient. Ten clinicians who specialize in diagnosing autism in adults classified the Autism-Spectrum Quotient’s items according to Diagnostic and Statistical Manual of Mental Disorders (5th ed.) criteria. The short version of the Hebrew Autism-Spectrum Quotient comprised items that best differentiated between adults with and without autism, five items representing each of the Diagnostic and Statistical Manual of Mental Disorders (5th ed.) diagnostic domains. The overall probability for participants to be correctly classified as autistic or neurotypical was 86% for the Hebrew version of the Autism-Spectrum Quotient and 88% for the short version of the Hebrew Autism-Spectrum Quotient. We conclude that both versions are reliable and sensitive instruments that can help referring adults for autism assessment.

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116. Gómez-Rodríguez MJ, Morales-Conejo M, Arteche-López A, Sánchez-Calvín MT, Quesada-Espinosa JF, Gómez-Manjón I, Palma-Milla C, Lezana-Rosales JM, Pérez de la Fuente R, Martin-Ramos ML, Fernández-Guijarro M, Moreno-García M, Alvarez-Mora MI. Fragile X Syndrome Caused by Maternal Somatic Mosaicism of FMR1 Gene: Case Report and Literature Review. Genes (Basel);2022 (Sep 8);13(9)

Fragile X syndrome (FXS) is caused by an abnormal expansion of the number of trinucleotide CGG repeats located in the 5′ UTR in the first exon of the FMR1 gene. Size and methylation mosaicisms are commonly observed in FXS patients. Both types of mosaicisms might be associated with less severe phenotypes depending on the number of cells expressing FMRP. Although this dynamic mutation is the main underlying cause of FXS, other mechanisms, including point mutations or deletions, can lead to FXS. Several reports have demonstrated that de novo deletions including the entire or a portion of the FMR1 gene end up with the absence of FMRP and, thus, can lead to the typical clinical features of FXS. However, very little is known about the clinical manifestations associated with FMR1 gene deletions in mosaicism. Here, we report an FXS case caused by an entire hemizygous deletion of the FMR1 gene caused by maternal mosaicism. This manuscript reports this case and a literature review of the clinical manifestations presented by carriers of FMR1 gene deletions in mosaicism.

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117. Grivas G, Frye RE, Hahn J. Maternal risk factors vary between subpopulations of children with autism spectrum disorder. Autism Res;2022 (Sep 6)

Previous work identified three subgroups of children with ASD based upon co-occurring conditions (COCs) diagnosed during the first 5 years of life. This work examines prenatal risk factors, given by maternal medical claims, for each of the three subgroups: children with a High-Prevalence of COCs, children with mainly developmental delay and seizures (DD/Seizure COCs), and children with a Low-Prevalence of COCs. While some risk factors are shared by all three subgroups, the majority of the factors identified for each subgroup were unique; infections, anti-inflammatory and other complex medications were associated with the High-Prevalence COCs group; immune deregulatory conditions such as asthma and joint disorders were associated with the DD/Seizure COCs group; and overall pregnancy complications were associated with the Low-Prevalence COCs group. Thus, we have found that the previously identified subgroups of children with ASD have distinct associated prenatal risk factors. As such, this work supports subgrouping children with ASD based upon COCs, which may provide a framework for elucidating some of the heterogeneity associated with ASD. LAY SUMMARY: Children diagnosed with autism spectrum disorder (ASD) are commonly diagnosed with co-occurring conditions (COCs) as well. Medical events that occur during a woman’s pregnancy can affect the outcome of ASD but it is unclear how these events affect COCs. Medical events during pregnancy, identified using insurance claims, were found to vary for the three subgroups of children diagnosed with ASD and grouped by COCs. This supports subgrouping children with ASD based upon their COCs.

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118. Guidetti C, Salvini E, Viri M, Deidda F, Amoruso A, Visciglia A, Drago L, Calgaro M, Vitulo N, Pane M, Caucino AC. Randomized Double-Blind Crossover Study for Evaluating a Probiotic Mixture on Gastrointestinal and Behavioral Symptoms of Autistic Children. J Clin Med;2022 (Sep 6);11(18)

Autism spectrum disorders (ASDs) represent a diagnostic challenge with a still partially uncertain etiology, in which genetic and environmental factors have now been assessed. Among the hypotheses underlying the involvement of biological and environmental factors, the gut-brain axis is of particular interest in autism spectrum disorders. Several studies have highlighted the related incidence of particular gastrointestinal symptoms (GISs) in children suffering from ASDs. Probiotics have shown success in treating several gastrointestinal dysbiotic disorders; therefore, it is plausible to investigate whether they can alleviate behavioral symptoms as well. On these bases, a randomized double-blind crossover study with a placebo was conducted, evaluating the effects of a mixture of probiotics in a group of 61 subjects aged between 24 months and 16 years old with a diagnosis of ASD. Behavioral evaluation was performed through the administration of a questionnaire including a Parenting Stress Index (PSI) test and the Vineland Adaptive Behavior Scale (VABS). The Psycho-Educational Profile and the Autism Spectrum Rating Scale (ASRS) were also evaluated. Microbial composition analyses of fecal samples of the two groups was also performed. The study showed significant improvements in GISs, communication skills, maladaptive behaviors, and perceived parental stress level after the administration of probiotics. Microbiome alpha diversity was comparable between treatment arms and no significant differences were found, although beta diversity results were significantly different in the treatment group between T0 and T1 time points. Streptococcus thermophilus, Bifidobacterium longum, Limosilactobacillus fermentum, and Ligilactobacillus salivarius species were identified as some of the most discriminant taxa positively associated with T1 samples. This preliminary study corroborates the relationship between intestinal microbiota and ASD recently described in the literature.

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119. Guo BQ, Li HB, Zhai DS, Yang LQ. Prevalence of autism spectrum disorder diagnosis by birth weight, gestational age, and size for gestational age: a systematic review, meta-analysis, and meta-regression. Eur Child Adolesc Psychiatry;2022 (Sep 6)

We aimed to comprehensively pool the prevalence of autism spectrum disorder (ASD) diagnosis by birth weight, gestational age, and size for gestational age. PubMed, EMBASE, Web of Science, Ovid PsycINFO, and Cochrane Library were searched up to December 22, 2021. We pooled data using the random-effects model and quantified heterogeneity using the I(2) statistic. Of 66 643 records initially identified, 75 studies were included in the meta-analysis. The pooled prevalence estimates of ASD diagnosis are as follows: very-low-birth weight, 3.1% (912 ASD/66,445 individuals); low-birth weight, 2.3% (5672 ASD/593,927 individuals); normal-birth weight, 0.5% (17,361 ASD/2,378,933 individuals); high-birth weight, 0.6% (4505 ASD/430,699 individuals); very preterm, 2.8% (2113 ASD/128,513 individuals); preterm, 2.1% (19 672 ASD/1 725 244 individuals); term, 0.6% (113,261 ASD/15,297,259 individuals); postterm, 0.6% (9419 ASD/1,138,215 individuals); small-for-gestational-age, 1.9% (6314 ASD/796,550 individuals); appropriate-for-gestational-age, 0.7% (21,026 ASD/5,936,704 individuals); and large-for-gestational-age, 0.6% (2607 ASD/635,666 individuals). Compared with the reference prevalence (those in normal-birth weight, term, and appropriate-for-gestational-age individuals), the prevalence estimates of ASD diagnosis in very-low-birth weight, low-birth weight, very preterm, preterm, and small-for-gestational-age individuals increased significantly, while those in high-birth weight, postterm, and large-for-gestational-age individuals did not change significantly. There were geographical differences in the prevalence estimates. This meta-analysis provided reliable estimates of the prevalence of ASD diagnosis by birth weight, gestational age, and size for gestational age, and suggested that low-birth weight (especially very-low-birth weight), preterm (especially very preterm), and small-for-gestational-age births, rather than high-birth weight, postterm, and large-for-gestational-age births, were associated with increased risk of ASD diagnosis. However, in view of marked between-study heterogeneity in most conditions, unknown effects of certain important confounders associated with ASD due to limited information in original articles, and included studies from a relatively small number of countries, the findings of this study should be interpreted with caution.

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120. Guo M, Li R, Wang Y, Ma S, Zhang Y, Li S, Zhang H, Liu Z, You C, Zheng H. Lactobacillus plantarum ST-III modulates abnormal behavior and gut microbiota in a mouse model of autism spectrum disorder. Physiol Behav;2022 (Sep 17);257:113965.

Probiotic treatment might improve autism spectrum disorder (ASD) behavior. In this study, we investigated the improvement effects of Lactobacillus plantarum ST-III on a mouse model of ASD, which was constructed using triclosan. After two weeks of L. plantarum ST-III oral feeding, autism-like social deficits in male mouse models were ameliorated. L. plantarum ST-III also attenuated the self-grooming and freezing times of female mice. High-throughput sequencing revealed changes in the gut microbiota after L. plantarum ST-III intervention. In the female probiotic group, the abundance of beneficial Lachnospiraceae bacteria increased, whereas that of harmful Alistipes bacteria decreased. Correlation analysis showed that amelioration of abnormal behavior in a mouse model of ASD was related to the involvement of certain metabolic pathways. A reduction in the abundance of Alistipes was involved in stereotyped behavioral improvement. Thus, oral supplementation with L. plantarum ST-III can help improve social behavior in a male mouse model of ASD and contribute to more balanced intestinal homeostasis.

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121. Guy MW, Richards JE, Roberts JE. Cortical Source Analysis of the Face Sensitive N290 ERP Component in Infants at High Risk for Autism. Brain Sci;2022 (Aug 25);12(9)

Appropriate head models for cortical source analysis were investigated and applied to source analyses examining the neural bases of the face-sensitive N290 event-related potential (ERP) component in infants at high risk for autism spectrum disorder (ASD). This included infant siblings of children with ASD (ASIBs) and infants with fragile X syndrome (FXS). First, alternative head models for use with ASIBs and FXS were investigated. Head models created from the infant’s own MRI were examined in relation to five head models based on average MRI templates. The results of the head model comparison identified group-specific (i.e., ASIB or FXS) head models created from a large collection of structural MRIs as the best substitution for the head model created from the participant’s own structural MRI. Second, the cortical source analysis was completed on N290 data collected from a previous study to investigate brain areas associated with face sensitive ERP responses. Participants’ own MRIs were used for head models when available, and the group-specific head model was used when the participants’ own MRIs were not available. The results provide evidence for unique patterns of neural activation during face processing across infants at high and low risk for ASD and across etiologically distinct high-risk groups. All infants demonstrated greater activation to faces than toys in brain areas most associated with specialized face processing. Infants with FXS displayed higher levels of activation to faces across all areas analyzed, while ASIBs show more muted levels of activation. Overall, the results of the current study demonstrate the importance of group-specific head models for accurate cortical source analysis in infants at high risk for ASD. This also allows for further research on early distinctions in brain function based on risk status.

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122. Hacohen M, Stolar OE, Berkovitch M, Elkana O, Kohn E, Hazan A, Heyman E, Sobol Y, Waissengreen D, Gal E, Dinstein I. Children and adolescents with ASD treated with CBD-rich cannabis exhibit significant improvements particularly in social symptoms: an open label study. Transl Psychiatry;2022 (Sep 9);12(1):375.

In recent years there has been growing interest in the potential benefits of CBD-rich cannabis treatment for children with ASD. Several open label studies and one double-blind placebo-controlled study have reported that CBD-rich cannabis is safe and potentially effective in reducing disruptive behaviors and improving social communication. However, previous studies have mostly based their conclusions on parental reports without the use of standardized clinical assessments. Here, we conducted an open label study to examine the efficacy of 6 months of CBD-rich cannabis treatment in children and adolescents with ASD. Longitudinal changes in social communication abilities and restricted and repetitive behaviors (RRB) were quantified using parent report with the Social Responsiveness Scale and clinical assessment with the Autism Diagnostic Observation Schedule (ADOS). We also quantified changes in adaptive behaviors using the Vineland, and cognitive abilities using an age-appropriate Wechsler test. Eighty-two of the 110 recruited participants completed the 6-month treatment protocol. While some participants did not exhibit any improvement in symptoms, there were overall significant improvements in social communication abilities as quantified by the ADOS, SRS, and Vineland with larger improvements in participants who had more severe initial symptoms. Significant improvements in RRB were noted only with parent-reported SRS scores and there were no significant changes in cognitive scores. These findings suggest that treatment with CBD-rich cannabis can yield improvements, particularly in social communication abilities, which were visible even when using standardized clinical assessments. Additional double-blind placebo-controlled studies utilizing standardized assessments are highly warranted for substantiating these findings.

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123. Hadoush H, Hadoush A. Modulation of Resting-State Brain Complexity After Bilateral Cerebellar Anodal Transcranial Direct Current Stimulation in Children with Autism Spectrum Disorders: a Randomized Controlled Trial Study. Cerebellum;2022 (Sep 26)

BACKGROUND: Autism spectrum disorders (ASD) are heterogeneous neurodevelopmental disorders characterized by aberrant neural networks. Cerebellum is best known for its role in controlling motor behaviors; however, recently, there have been significant reports showed that dysfunction in cerebellar-cerebral networks contributes significantly to many of the clinical features of ASD. Hereby, this is a randomized controlled trial (RCT) study examining the potential modulating effects of bilateral anodal tDCS stimulation over cerebellar hemispheres on the resting-state brain complexity in children with ASD. METHODS: Thirty-six children with ASD (aged 4-14) years old were divided equally and randomly into a tDCS treatment group, which underwent 10 sessions (20-min duration, five sessions/per week) of bilateral anodal tDCS stimulation applied over left and right cerebellar hemispheres, and control group underwent the same procedures, but with sham tDCS stimulation. Resting-state brain complexity was evaluated through recording and calculating the approximate entropy (ApxEnt) values of the resting-state electroencephalograph (EEG) data obtained from a 64-channel EEG system before and after the interventions. RESULTS: Repeated measures of ANOVA showed that tDCS had significant effects on the treatment group (Wilks’ Lambda = 0.29, F (15, 16) = 2.67, p = 0.03) compared with the control group. Analyzed data showed a significant increase in the averaged ApxEnt values in the right frontal cortical region (F (1, 16) = 10.46, p = 0.005) after the bilateral cerebellar anodal tDCS stimulation. Besides, the Cohen’s d effect size showed a large effect size (0.70-0.92) of bilateral cerebellar anodal tDCS on the ApxEnt values increases in the left and right frontal cortical regions, the right central cortical region, and left parietal cortical region. However, there were no any significant differences or increases in the brain complexity before and after the sham tDCS stimulation of the control group. CONCLUSION: Bilateral cerebellar anodal tDCS modulated and increased the brain complexity in children with ASD with no any reported adverse effect. Hereby, cerebellum and cerebellar-cerebral circuitry would serve as a promising target for non-invasive brain stimulation and neuro-modulation as a therapeutic intervention.

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124. Haghighi AH, Broughani S, Askari R, Shahrabadi H, Souza D, Gentil P. Combined Physical Training Strategies Improve Physical Fitness, Behavior, and Social Skills of Autistic Children. J Autism Dev Disord;2022 (Sep 9)

The present study aimed to investigate the effects of combined physical training (CPT) on social skills and physical fitness (PF) in children with ASD. Sixteen children with autism (age 6-10 years) were randomly assigned into two groups: CPT and control. The CPT group participated in a program involving ball game, rhythmic movements, and resistance training for eight weeks (three sessions per week). PF and behavior profile were assessed before and after training. CPT program had a significant effect on indicators of social skills such as stereotypic behavior and communication, as well as PF such as handgrip strength, upper and lower body power, flexibility, balance, and agility (P < 0.05). CPT in autistic children can improve indicators of social skills and PF.

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125. Halayem S, Bouden A, Amado IR, Leventhal B. Editorial: Advances in social cognition assessment and intervention in autism spectrum disorder. Front Psychiatry;2022;13:962843.

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126. Hayward SM, Flower RL, Denney KE, Bury S, Richdale AL, Dissanayake C, Hedley D. The Efficacy of Disability Employment Service (DES) Providers Working with Autistic Clients. J Autism Dev Disord;2022 (Sep 28):1-14.

The efficacy of the Australian Disability Employment Services (DES) for autistic jobseekers has not been examined and is currently undergoing Government reform. To help inform the new DES strategy, we sought the views of: 24 autistic individuals; seven family members of autistic individuals, and; 46 DES employees. Data were collected using surveys and interviews. Data were analysed using Mann Whitney tests plus deductive thematic analysis based on Nicholas and colleagues’ ecosystems model. Participants highlighted a need to adapt existing policies to enhance flexibility of the DES model. There was participant consensus that DES staff require specific education and training to meet the needs of autistic people. Suggestions to inform the new model of DES for autistic people are made.

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127. Healy S, Brewer B, Hoopes E, Paller A, Mayberry S, Maguire J, Daly J, Laxton P, Patterson F. Identifying the most proximal multi-level factors associated with meeting each of the 24-h movement behavior recommendations in a sample of autistic adults. Disabil Health J;2022 (Aug 11):101367.

BACKGROUND: Autistic adults have poorer 24-h movement behaviors, including lower levels of physical activity, more time spent being sedentary, and shorter sleep duration than neurotypical adults. Social ecological frameworks posit that 24-h movement behaviors are determined by multi-level domains; however, not known is which multi-level factors are most important to meeting each of the 24-h movement behavior guidelines among autistic adults. OBJECTIVE: This study examined the relative importance of a range of multi-level determinants on meeting guidelines for the 24-h movement behaviors of aerobic physical activity, sedentary behavior, and sleep. METHODS: We administered at cross-sectional electronic survey to a national self-selecting, convenience sample of autistic adults and caregivers of autistic adults residing in the USA. We used machine learning to examine the relative variable importance (VIMP) of 55 multi-level variables with meeting recommendations for physical activity, sedentary behavior, and sleep duration. VIMPs >0 indicate predictive variables/domains. RESULTS: A greater number of group activities attended in the last 3-months, and greater independence in completing activities of daily living were most important to meeting aerobic physical activity guidelines. Group activity participation and marital status were important to meeting sedentary behavior guidelines while having a fewer number of comorbidities was most important to achieving adequate sleep. CONCLUSIONS: These data support hypotheses about the role of family and social level interventions targeting movement behaviors in autistic adults.

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128. Heleven E, Bylemans T, Ma Q, Baeken C, Baetens K. Impaired sequence generation: a preliminary comparison between high functioning autistic and neurotypical adults. Front Behav Neurosci;2022;16:946482.

Earlier research demonstrated robust cerebellar involvement in sequencing, including high-level social information sequencing that requires mental state attributions, termed mentalizing. Earlier research also found cerebellar deficiencies in autism spectrum disorders (ASD) which are characterized by social difficulties. However, studies on high-level social sequencing functionality by persons with ASD are almost non-existent. In this study, we, therefore, perform a comparison between behavioral performances of high-functioning ASD and neurotypical participants on the Picture and Verbal Sequencing Tasks. In these tasks, participants are requested to put separate events (depicted in cartoon-like pictures or behavioral sentences, respectively) in their correct chronological order. To do so, some of these events require understanding of high-level social beliefs, of social routines (i.e., scripts), or nonsocial mechanical functionality. As expected, on the Picture Sequencing task, we observed longer response times for persons with ASD (in comparison with neurotypical controls) when ordering sequences requiring an understanding of social beliefs and social scripts, but not when ordering nonsocial mechanical events. This confirms our hypotheses that social sequence processing is impaired in ASD. The verbal version of this task did not reveal differences between groups. Our results are the first step toward new theoretical insights for social impairments of persons with ASD. They highlight the importance of taking into account sequence processing, and indirectly the cerebellum when investigating ASD difficulties.

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129. Hewitt AS, Smith JG, Weintraub L. COVID-19 and Persons With Intellectual and Developmental Disabilities: Implications for Future Policy, Practice, and Research. Am J Intellect Dev Disabil;2022 (Jul 1);127(4):270-277.

The COVID-19 pandemic has been hard for everyone. For the estimated seven and a half million people in the United States who live with intellectual disability (Residential Information Systems Project, 2020), it has been very hard. Lives have been disrupted by lost jobs, lack of access to friends/family, and challenges finding enough staff to provide supports and needed healthcare. Studies have shown that people with IDD are at a much greater risk of getting COVID-19 and dying from it (Cuypers et al., 2020; Gleason et al., 2021; Kaye, 2021; Landes, Turk, & Ervin, 2020; Nygren & Lulinski, 2020). Without question, people with intellectual and developmental disabilities (IDD) struggled as the COVID-19 pandemic began and as it has continued. Too many were isolated from friends and family for far too long. Too many were lonely and bored. Too many have not received the support they have needed during the pandemic. Far too many were denied treatment and far too many have died. As a nation we must reflect on what has happened and listen to people with IDD and their families about their experiences. This commentary reflects on the implications of COVID-19 for research, policy, and practice through the lens of people with IDD.

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130. Hirai M, Asada K, Kato T, Ikeda T, Hakuno Y, Ikeda A, Matsushima K, Awaya T, Okazaki S, Funabiki Y, Murai T, Heike T, Hagiwara M, Yamagata T, Tomiwa K, Kimura R. Comparison of the Social Responsiveness Scale-2 among Individuals with Autism Spectrum Disorder and Williams Syndrome in Japan. J Autism Dev Disord;2022 (Sep 27)

This study examined the similarities/differences between the social phenotypes of Williams syndrome (WS) and autism spectrum disorder (ASD). As cultural norms may affect symptom evaluation, this study administered the Social Responsiveness Scale-2 to Japanese individuals with WS (n = 78, 4.4-44.0 years) and ASD (n = 75, 4.7-55.4 years). The scores for Social Motivation and Social Communication were significantly more severe in the ASD than WS group. Overall, the similarities and differences between the social phenotypes of the syndromes were consistent with the findings of a recent study conducted in the UK, except for the social awareness subscale score. This highlights the importance of cross-cultural investigations of WS and ASD.

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131. Hong JS, Singh V, Kalb L, Reetzke R, Ludwig NN, Pfeiffer D, Holingue C, Menon D, Lu Q, Ashkar A, Landa R. Replication study for ADOS-2 cut-offs to assist evaluation of autism spectrum disorder. Autism Res;2022 (Sep 2)

The Autism Diagnostic Observation Schedule, Second Edition (ADOS-2) has been widely used for ASD assessment. While prior studies investigated sensitivity and specificity of ADOS-2 Modules 1-3, there has been limited research addressing algorithm cut-off scores to optimize ADOS-2 classification. The goal of this study was to assess algorithm cut-off scores for diagnosing ASD with Modules 1-3, and to evaluate alignment of the ADOS-2 classification with the best estimate clinical diagnosis. Participants included 3144 children aged 31 months or older who received ADOS-2 Modules 1-3, as well as the best estimate clinical diagnosis. Five classification statistics were reported for each module: sensitivity, specificity, positive predictive value, negative predictive value, and accuracy (i.e., Receiver Operator Classification Statistic), and these statistics were calculated for the optimal cut-off score. Frequency tables were used to compare ADOS-2 classification and the best estimate clinical diagnosis. Half of the sample received Module 3, 21% received Module 2, and 29% received Module 1. The overall prevalence of ASD was 60%; the male-to-female ratio was 4:1, and half of the sample was non-White. Across all modules, the autism spectrum cut-off score from the ADOS-2 manual resulted in high sensitivity (95%+) and low specificity (63%-73%). The autism cut-off score resulted in better specificity (76%-86%) with favorable sensitivity (81%-94%). The optimal cut-off scores for all modules based on the current sample were within the autism spectrum classification range except Module 2 Algorithm 2. In the No ASD group, 29% had false positives (ADOS-2 autism spectrum classification or autism classification). The ADOS-2 autism spectrum classification did not indicate directionality for diagnostic outcome (ASD 56% vs. No ASD 44%). While cut-off scores of ADOS-2 Modules 1-3 in the manual yielded good clinical utility in ASD assessment, false positives and low predictability of the autism spectrum classification remain challenging for clinicians. LAY SUMMARY: ADOS-2 Modules 1-3 have been widely used for ASD assessment, but there has been limited research on algorithm cut-off scores to optimize ADOS-2 clinical performance. Using a large independent sample, we examined alignment of the ADOS-2 classification with clinicians’ best estimate clinical diagnosis, assessing algorithm cut-off scores. Cut-off scores of ADOS-2 Modules 1-3 in the manual yielded good clinical utility in ASD classification. The optimal cut-off scores based on the current sample were generally within the autism spectrum classification range.

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132. Hood SA, Gopez JM, Fallon MJ, Byczynski FA, Aquino SC, Monroy S. The beginning of a friendship: Teaching individuals with autism to identify shared interests. J Appl Behav Anal;2022 (Sep 15)

Individuals with conversation skill deficits often have difficulties discriminating cues of interest and uninterest from their conversation partner(s). We used behavioral skills training (BST) to teach 3 individuals with autism spectrum disorder to converse about the conversation partner’s topics of interest, initiate strategic preferred topics to identify shared interests after indices of uninterest, and end the conversation. We assessed generality of each skill across conversation partners and ratings of social acceptability. We replicated previous research on BST producing robust increases in following the conversation, shifting the topic of conversation, and ending the conversation. In addition, all participants learned to categorize shared interests. We observed overall high levels of generality across following, shifting, and ending the conversation with all conversation partners. However, for 2 out of the 3 participants the inclusion of rules was necessary to promote the generality of the intraverbal categorization response. We discuss the implication of these findings for clinical practice and future research.

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133. Hou Y, Yan T, Deng M. A Qualitative Study on Parental Experience of Involvement in the Transition from Kindergarten to Primary School for Chinese Children with Intellectual and Developmental Disabilities. J Autism Dev Disord;2022 (Sep 15):1-16.

Parental involvement plays a vital role in the transition from kindergarten to primary school among children with intellectual and developmental disabilities (IDDs); this study aims to explore Chinese parents’ experiences of parental involvement during this period. Informed by interpretive phenomenological analysis, semi-structured, one-on-one interviews were held with 10 parents. Three major themes were identified: (1) « aggressive » involvement; (2) factors in transforming parental involvement; and (3) « rational » involvement. Participants reported their perceptions, attitudes, and parenting behaviors in different phases of involvement in the transition to primary school. These findings highlight the need to support parents of children with IDDs during this time of change.

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134. Hsieh MY, Tuan LH, Chang HC, Wang YC, Chen CH, Shy HT, Lee LJ, Gau SS. Altered synaptic protein expression, aberrant spine morphology, and impaired spatial memory in Dlgap2 mutant mice, a genetic model of autism spectrum disorder. Cereb Cortex;2022 (Sep 28)

A microdeletion of approximately 2.4 Mb at the 8p23 terminal region has been identified in a Taiwanese autistic boy. Among the products transcribed/translated from genes mapped in this region, the reduction of DLGAP2, a postsynaptic scaffold protein, might be involved in the pathogenesis of autism spectrum disorder (ASD). DLGAP2 protein was detected in the hippocampus yet abolished in homozygous Dlgap2 knockout (Dlgap2 KO) mice. In this study, we characterized the hippocampal phenotypes in Dlgap2 mutant mice. Dlgap2 KO mice exhibited impaired spatial memory, indicating poor hippocampal function in the absence of DLGAP2. Aberrant expressions of postsynaptic proteins, including PSD95, SHANK3, HOMER1, GluN2A, GluR2, mGluR1, mGluR5, βCAMKII, ERK1/2, ARC, BDNF, were noticed in Dlgap2 mutant mice. Further, the spine density was increased in Dlgap2 KO mice, while the ratio of mushroom-type spines was decreased. We also observed a thinner postsynaptic density thickness in Dlgap2 KO mice at the ultrastructural level. These structural changes found in the hippocampus of Dlgap2 KO mice might be linked to impaired hippocampus-related cognitive functions such as spatial memory. Mice with Dlgap2 deficiency, showing signs of intellectual disability, a common co-occurring condition in patients with ASD, could be a promising animal model which may advance our understanding of ASD.

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135. Hsu JW, Tsai SJ, Bai YM, Huang KL, Su TP, Chen TJ, Chen MH. Risk of exposure to prescription opioids in children and adolescents with autism spectrum disorder: A nationwide longitudinal study. Autism Res;2022 (Aug 27)

Whether children and adolescents with autism spectrum disorder (ASD) are more likely to be exposed to prescription opioids than others remains unknown. The Taiwan National Health Insurance Research Database was employed, and 14,849 children and adolescents with ASD and 148,490 age- and sex-matched non-ASD controls were enrolled between 2001 and 2009 and followed up till the end of 2011. Those exposed to prescription opioids during the follow-up period were identified. Patients with ASD were more likely to be exposed to prescription opioids (hazard ratio [HR]: 4.95, 95% confidence interval [CI]: 4.50-5.45), including intravenous or intramuscular opioids (HR: 5.80, 95% CI: 5.23-6.43) and oral or transcutaneous opioids (HR: 2.32, 95% CI: 1.87-2.89), than were non-ASD controls. Furthermore, the ASD cohort had the increased likelihood of cumulative exposure of >14 days (HR: 6.19, 95% CI: 4.91-7.79) and >30 days (HR: 7.17, 95% CI: 5.19-9.90) to prescription opioids compared with the control cohort. ASD was a risk factor for exposure to prescription opioids. Close monitoring of prescription opioid use is necessary for at-risk children and adolescents with ASD, such as those having with or chronic pain. We found that patients with ASD were more likely to be exposed to prescription opioids, including intravenous or intramuscular opioids and oral or transcutaneous opioids, than were non-ASD controls. We suggest that close monitoring of prescription opioid use is necessary for at-risk children and adolescents with ASD, such as those having with or chronic pain.

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136. Hsu TW, Chu CS, Tsai SJ, Hsu JW, Huang KL, Cheng CM, Su TP, Chen TJ, Bai YM, Liang CS, Chen MH. Diagnostic progression to schizophrenia: A nationwide cohort study of 11 170 adolescents and young adults with autism spectrum disorder. Psychiatry Clin Neurosci;2022 (Sep 3)

AIMS: Previous studies have suggested an increased risk of developing schizophrenia later in life in children with autism spectrum disorder (ASD). This study aims to investigate the diagnosis stability and the potential predictors for progression to schizophrenia in ASD. METHODS: We recruited 11 170 adolescents (10-19 years) and young adults (20-29 years) with ASD between 2001 and 2010. They were followed up to the end of 2011 to identify newly diagnosed schizophrenia. The Kaplan-Meier method and Cox regression with age as a time scale were employed to estimate incidence rates and the significance of candidate predictors. RESULTS: The progression rate from ASD to schizophrenia was 10.26% for 10 years of follow-up. Among 860 progressors, 580 (67.44%) occurred within the first 3 years after a diagnosis of ASD. The identified predictors were age (reported as hazard ratio with 95% confidence interval: 1.13; 1.11-1.15), depressive disorder (1.36; 1.09-1.69), alcohol use disorder (3.05; 2.14-4.35), substance use disorder (1.91; 1.18-3.09), cluster A personality disorder (2.95; 1.79-4.84), cluster B personality disorder (1.86; 1.05-3.28), and a family history of schizophrenia (2.12; 1.65-2.74). CONCLUSION: More than two-thirds of the progressors developed schizophrenia within the first 3 years. Demographic characteristics, physical and psychiatric comorbidities, and psychiatric family history were significant predictors of progression.

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137. Hu J, Zhou W, Fu Z, Zeng X, Huang C. Influence of Family Sports Games on the Development of Early Communication Skills in Autistic Children. J Environ Public Health;2022;2022:2621476.

With the development of society, the number of autistic children in China is increasing, which not only makes the family’s happiness very low, but also seriously affects the development of teenagers and society. Among the symptoms of autistic children, early childhood communication skills have received extensive attention. In traditional rehabilitation training, with a lack of parents’ participation, most of the training cannot arouse the interest of autistic children, so the treatment effect is not obvious. Based on this, this paper proposes the application of family sports games to improve the early communication ability of autistic children. This article aims to investigate the role of family sports games in promoting the development of early communication skills in autistic children. This paper uses the fuzzy comprehensive evaluation method to score the comprehensive ability of family sports games. The experimental results of this paper show that before the experiment, the comprehensive scores of children’s communication ability in the control group and the experimental group were 18.92 and 18, respectively, which were generally low, and there was no significant difference. This shows that the communication skills of the two groups of children before the experiment are relatively poor. After the test, the children’s comprehensive score of communication ability in the experimental group increased by 35.8 points, and the difference was significant, indicating that family sports games have a great impact on the development of children’s communication ability.

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138. Hunt E, Hogan A, Will EA, Roberts JE. ADHD and ASD symptoms in young males with fragile X syndrome: associations with early trajectories of inhibitory control. Child Neuropsychol;2022 (Sep 9):1-27.

Inhibitory control (IC), the ability to suppress inappropriate responses, emerges late in the first year of life and improves across typical development, concurrent with brain maturation. The development of IC is critical to various social-emotional and behavioral functions, with IC difficulties being linked to numerous neurodevelopmental disorders, including attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Fragile X syndrome (FXS) is a single-gene disorder characterized by IC difficulties, and elevated rates of ADHD and ASD, making it a useful model for understanding the early development and consequences of IC. In this longitudinal study, we characterized IC trajectories across multiple time points between 16 and 71 months of age in young males with FXS (n = 79) relative to neurotypical (NT) controls (n=49). To explore the association between behavioral outcomes and IC, we identified a subsample of 50 children with longitudinal IC data and an outcome assessment for ADHD and ASD symptoms at age 5 (FXS: n = 26, NT: n = 24). Results indicated that, compared to their NT peers, young males with FXS exhibit differences in IC as early as 24 months, with group differences increasing through age 5. Additionally, we determined that lower IC levels at 24 months were associated with later ADHD symptoms and a decreasing slope in IC over time was associated with later ASD symptoms in male children with FXS. These findings help refine early developmental phenotypes of FXS and highlight IC as a potential target for early detection and intervention of ASD and ADHD symptoms in male children with FXS.

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139. Hwang G. Autism Spectrum Disorder: Time to Notice the Individuals More Than the Group. Biol Psychiatry;2022 (Oct 15);92(8):606-608.

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140. Inokuchi R, Ichikawa T, Ichikawa H, Yamamoto M, Takemura H. Gait Perception of Life-Size Point-Light Walker is Associated with Autistic Traits: Evidence from Event-Related Evoked Potentials. Annu Int Conf IEEE Eng Med Biol Soc;2022 (Jul);2022:4068-4071.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by a combination of atypicalities in social cognition. Previous studies showed that people with autistic traits have atypicality in motion perception on a point-light display by measuring visual event-related potentials (ERPs). Although some studies have focused on the association between motion perception and autistic traits, visual ERPs to biological motion as large as actual person have not been investigated. Measuring brain activity in a real-life environment help us to understand the difficulties showed in daily life by people with autistic traits. In this study, we investigated the association between gait perception and autistic traits by measuring ERPs during video observation of approaching and receding life-sized point-light walkers (PLW s). ERPs were measured using an 8-channel EEG system in 22 adults. The multiple regression analyses were conducted to assess association between the Subthreshold Autism Trait Questionnaire (SATQ) score and the ERP amplitude or latency. As the results, we found that the higher SATQ score could be explained by the longer latency of N1 on the occipitotemporal area. These findings suggested that people with autistic traits have difficulty in perceiving the approach of others in daily life.

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141. Inoue M, Okamoto K. Japanese Parents’ Experiences with Home-Based Interventions of Applied Behavior Analysis for Young Children with Autism Spectrum Disorders. Yonago Acta Med;2022 (Aug);65(3):266-269.

This study involved qualitative analyses of the benefits and difficulties of providing home-based Applied Behavior Analysis (ABA) for Japanese parents of young children with autism spectrum disorder (ASD). An open-ended questionnaire survey was administered to 35 parents of children with autism who were implementing home-based ABA. The mean age of the parents was 38.7 years old (SD = 3.80), and the time since initiation of home-based ABA was 25.5 months (SD = 19.58). The mean age of the children with ASD was 64.5 months old (SD = 37.7). Data were analyzed using the KJ method of qualitative analysis. The benefits of implementing home-based ABA were related to growth of the parents themselves and child development. Identified difficulties included balancing work and household responsibilities and psychological problems. These findings were then compared with similar previous studies to discuss support for families implementing in-home ABA programs.

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142. Ionescu S, Jourdan-Ionescu C. [Autism Spectrum Disorders: What the COVID-19 Pandemic Has Taught Us]. Ann Med Psychol (Paris);2022 (Sep 6)

The article is devoted to the consequences of the pandemic caused by SARS-CoV-2 and more particularly, of the preventive measures adopted during this period on people with autism spectrum disorders (ASD). These people are more at risk (especially in cases of comorbidity with intellectual disability) of being infected and hospitalized longer. This increased risk is explained by the presence of biological risk factors (increased cytokines, decreased melatonin) and by psychological factors related to the clinical picture of ASD. Hesitancy concerning COVID vaccinations is discussed in relation to the erroneously purported link between vaccination and the onset of autism. As expected, the pandemic has had negative effects on the clinical picture of children, adolescents, and adults with ASD: sleep disorders, increased behavioural disorders, more stereotypies, parental distress. Unexpectedly, researchers and clinicians have also highlighted the positive effects of the pandemic, described as the « paradoxical‿ effects (improved communication and relationships, decreased anxiety, being happier because of being more in control over their schedule). The explanation for these effects was related to non-attendance at school and, thus, no bullying, decreased sensory and social overload, increased time spent at home, and solidarity with the autistic community and with the entire community. Finally, the question of the transfer of certain conditions that contributed to the above-mentioned improvements to the post-pandemic period is addressed.

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143. Jadav N, Bal VH. Associations between co-occurring conditions and age of autism diagnosis: Implications for mental health training and adult autism research. Autism Res;2022 (Aug 27)

Adult autism studies are increasingly comprised of later-diagnosed adults, yet little is known about how these adults compare to those diagnosed earlier in life. The present study examines medical and psychiatric conditions endorsed by autistic adults and documents differences between those diagnosed with ASD in childhood versus adulthood, as well as across age groups and sex at birth. 4657 legally independent adults (ages 18-85, M = 33.4 years) with professional ASD diagnoses who completed a medical questionnaire were drawn from the Simons Powering Autism Research Knowledge (SPARK) study. Chi square analyses, t-tests, and logistic regressions were used to compare medical and psychiatric conditions between age groups, sex at birth and adults diagnosed in childhood (before age 21) versus adulthood (at or after 21 years). Overall number of conditions endorsed as being diagnosed by a professional was high, with an average of 1.69 (SD = 2.01) medical or developmental and 2.98 (SD = 2.29) psychiatric conditions reported across the sample. Females were more likely to endorse psychiatric conditions (OR = 1.68). Adult-diagnosed adults were more likely to endorse psychiatric conditions (OR = 2.71) and reported more lifetime psychiatric diagnoses (M = 3.15, SD = 2.23) than their childhood-diagnosed counterparts (M = 2.81, SD = 2.33). These findings underscore the need for research to better understand and treat co-occurring psychiatric conditions in autistic adults and report and consider the age of diagnosis in adult autism samples. Moreover, results suggest it is imperative that mental health professionals receive autism training to promote accurate differential diagnosis and equitable access to mental health care for autistic adults with co-occurring psychiatric conditions. LAY SUMMARY: In a large sample of independent autistic adults, those diagnosed with ASD after 21 years of age indicated having more psychiatric diagnoses than those diagnosed before 21 years of age. This highlights the importance of considering age of ASD diagnosis in research and underscores a need for autism training in the broader mental health field.

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144. Jameson C, Boulton KA, Silove N, Guastella AJ. Eczema and related atopic diseases are associated with increased symptom severity in children with autism spectrum disorder. Transl Psychiatry;2022 (Sep 28);12(1):415.

Growing evidence indicates that autism spectrum disorder (ASD) has diverse genetic, neurological, and environmental factors that contribute to its neurodevelopmental course. Interestingly, childhood ASD is often accompanied by skin disorders, such as eczema, and other related atopic manifestations. This link may be due to the shared embryonic origin of epidermal and neural tissue. Accordingly, we consider the potential influence of a skin-brain co-vulnerability and ensuing atopic cascade on ASD symptomatology by investigating whether atopic disorders (asthma, allergies, eczema and hay fever) are associated with increased symptom severity in children with ASD. Overall, 45 atopic and 93 non-atopic children with ASD were assessed using the ADOS-2 on scores of total, social and non-social symptoms. Differences in ASD symptom severity were further evaluated as a function of atopic disease type. Atopic children displayed greater symptom severity overall and in the social domain, relative to non-atopic participants. Atopic children were 2.4 times more likely to experience overall impairments classified within the ADOS-2 highest-level severity bracket and 2.7 times more likely to show social difficulties in this range. Moreover, those reporting comorbid eczema displayed increased symptom severity relative to both their non-atopic peers and those reporting asthma and allergies. Taken together, findings indicate that atopic disorders, and particularly comorbid eczema, are associated with increases in ASD symptom severity. Findings provide grounds for future investigations into this link between childhood skin diseases and ASD symptom severity to advance our understanding of neurodevelopment and to develop targeted assessment and intervention opportunities.

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145. Jarrige D, Nadalig T, Joly M, Sancelme M, Vuilleumier S, Amato P, Bringel F. Complete Genome of Sphingomonas aerolata PDD-32b-11, Isolated from Cloud Water at the Summit of Puy de Dôme, France. Microbiol Resour Announc;2022 (Sep 15):e0068422.

The complete genome of Sphingomonas aerolata PDD-32b-11, a bacterium isolated from cloud water, was sequenced. It features four circular replicons, a chromosome of 3.99 Mbp, and three plasmids. Two putative rhodopsin-encoding genes were detected which might act as proton pumps to harvest light energy.

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146. Jassim N, Owen AM, Smith P, Suckling J, Lawson RP, Baron-Cohen S, Parsons O. Perceptual decision-making in autism as assessed by « spot the difference » visual cognition tasks. Sci Rep;2022 (Sep 14);12(1):15458.

Discriminating between similar figures proves to be a remarkably demanding task due to the limited capacity of our visual cognitive processes. Here we examine how perceptual inference and decision-making are modulated by differences arising from neurodiversity. A large sample of autistic (n = 140) and typical (n = 147) participants completed two forced choice similarity judgement tasks online. Each task consisted of « match » (identical figures) and « mismatch » (subtle differences between figures) conditions. Signal detection theory analyses indicated a response bias by the autism group during conditions of uncertainty. More specifically, autistic participants were more likely to choose the « mismatch » option, thus leading to more hits on the « mismatch » condition, but also more false alarms on the « match » condition. These results suggest differences in response strategies during perceptual decision-making in autism.

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147. Jensen JM, Nielsen US, Bayat A, Rasmussen MB, Møller RS, Bisgaard AM, Hammer TB. [Genetic testing in autism spectrum disorder]. Ugeskr Laeger;2022 (Aug 22);184(34)

Autism spectrum disorders (ASD) have a complex genetic component comprising both frequent polygenic and rare monogenic factors. Research is conducted in methods used to calculate polygenic risk scores, which are not applicable in clinical practice. Advances in genomic technology have identified several monogenic causes, and genetic testing may be offered to persons with ASD where a monogenic etiology is suspected. Herein, we provide an overview of the current knowledge and present the first national recommendation regarding genetic testing in ASD.

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148. Jeon SJ, Kwon H, Bae HJ, Gonzales EL, Kim J, Chung HJ, Kim DH, Ryu JH, Shin CY. Agmatine relieves behavioral impairments in Fragile X mice model. Neuropharmacology;2022 (Nov 15);219:109234.

BACKGROUND: Fragile X syndrome (FXS) is the most common heritable form of neurodevelopmental disorder, which is caused by the loss of fragile X mental retardation protein (FMRP) expression. Despite the unceasing efforts to develop therapeutic agents against FXS based on the pathophysiological changes observed in animal models of FXS and human patients, therapeutic candidates including mGluR signaling modulators have failed to provide sufficient effects. Based on the recent successful demonstration of an endogenous polyamine, agmatine, to improve the autism-like symptoms in the valproic acid animal model of autism, we investigated the effects of agmatine against FXS symptoms using Fmr1 knockout (KO) mice. METHODS: We used male Fmr1 KO mice for behavioral tests such as marble burying, open-field test, memory tasks, social interaction tests and startle response to confirm the symptoms of FXS. We also checked the electrophysiological profile of neural activity in agmatine-treated Fmr1 KO mice. RESULTS: Agmatine reversed the compulsion, learning and memory deficits, hyperactivity, aberrant social interaction, and communication deficit in Fmr1 KO mice while it normalized the aberrant LTP and LTD in the hippocampus. CONCLUSIONS: The results highlight the potential of agmatine’s novel disease-ameliorating effects in FXS, which warrants further studies to ascertain whether these findings translate into clinical effects in FXS patients.

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149. Jesina O, Baloun L, Kudlacek M, Dolezalova A, Badura P. Relationship of Exclusion From Physical Education and Bullying in Students With Specific Developmental Disorder of Scholastic Skills. Int J Public Health;2022;67:1604161.

Objectives: This study aimed to analyze the relationships among exclusion from PE, gender, and bullying in adolescents with specific developmental disorder of scholastic skills (SDDSS) aged 11, 13, and 15 years in Czechia. Methods: In total, the final research sample consisted of 13,953 students (49.4% boys) from the 2013/2014 Health Behaviour in School-aged Children survey. Chi-square tests and regression models stratified by presence of SDDSS diagnosis were used to assess the relationships between non-involvement in PA and bullying. Results: Students diagnosed with SDDSS (12.4% of the sample) were more likely to be excluded from physical education (PE) than students without this diagnosis. This exclusion was associated with higher odds of bullying victimization and perpetration. Our findings further showed that male gender plays a significant role for bullying perpetration for both groups (with and without SDDSS) investigated in the present study. Conclusion: Higher likelihood of aggressive behavior occurs in students who are excluded from PE, including students with SDDSS.

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150. Jha RR, Bhardwaj A, Garg D, Bhavsar A, Nigam A. MHATC: Autism Spectrum Disorder Identification Utilizing Multi-Head Attention Encoder Along with Temporal Consolidation Modules. Annu Int Conf IEEE Eng Med Biol Soc;2022 (Jul);2022:337-341.

Resting-state fMRI is commonly used for diagnosing Autism Spectrum Disorder (ASD) by using network-based functional connectivity. It has been shown that ASD is associated with brain regions and their inter-connections. However, discriminating based on connectivity patterns among imaging data of the control population and that of ASD patients’ brains is a non-trivial task. In order to tackle said classification task, we propose a novel deep learning architecture (MHATC) consisting of multi-head attention and temporal consolidation modules for classifying an individual as a patient of ASD. The devised architecture results from an in-depth analysis of the limitations of current deep neural network solutions for similar applications. Our approach is not only robust but computationally efficient, which can allow its adoption in a variety of other research and clinical settings.

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151. Jonak CR, Pedapati EV, Schmitt LM, Assad SA, Sandhu MS, DeStefano L, Ethridge L, Razak KA, Sweeney JA, Binder DK, Erickson CA. Baclofen-associated neurophysiologic target engagement across species in fragile X syndrome. J Neurodev Disord;2022 (Sep 27);14(1):52.

BACKGROUND: Fragile X syndrome (FXS) is the most common inherited form of neurodevelopmental disability. It is often characterized, especially in males, by intellectual disability, anxiety, repetitive behavior, social communication deficits, delayed language development, and abnormal sensory processing. Recently, we identified electroencephalographic (EEG) biomarkers that are conserved between the mouse model of FXS (Fmr1 KO mice) and humans with FXS. METHODS: In this report, we evaluate small molecule target engagement utilizing multielectrode array electrophysiology in the Fmr1 KO mouse and in humans with FXS. Neurophysiologic target engagement was evaluated using single doses of the GABA(B) selective agonist racemic baclofen (RBAC). RESULTS: In Fmr1 KO mice and in humans with FXS, baclofen use was associated with suppression of elevated gamma power and increase in low-frequency power at rest. In the Fmr1 KO mice, a baclofen-associated improvement in auditory chirp synchronization was also noted. CONCLUSIONS: Overall, we noted synchronized target engagement of RBAC on resting state electrophysiology, in particular the reduction of aberrant high frequency gamma activity, across species in FXS. This finding holds promise for translational medicine approaches to drug development for FXS, synchronizing treatment study across species using well-established EEG biological markers in this field. TRIAL REGISTRATION: The human experiments are registered under NCT02998151.

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152. Joung JW. Factors influencing quality of life in caregivers of adolescents with developmental disabilities. Osong Public Health Res Perspect;2022 (Aug);13(4):298-307.

OBJECTIVES: Caring for adolescents with developmental disabilities (DD) is stressful and challenging, and mothers usually provide care for these children in Korea. This study aimed to identify factors influencing quality of life (QoL) in mothers of adolescents with DD. METHODS: A predictive design was used. Data were collected from a web-based survey administered to a convenience sample of 154 mothers of adolescents with DD from October to November 2020. Data were analyzed using the t-test, analysis of variance, Pearson correlation coefficients, and multiple regression. RESULTS: Perceived health, depression, and family strength were significantly correlated with QoL. Multiple regression showed that family strength, perceived health, depression, and monthly household income influenced the participants’ QoL, and these factors accounted for 69.2% of variance in QoL. Family strength was the factor most strongly affecting QoL (β=0.39). CONCLUSION: The study results indicate that health professionals and policy-makers need to pay attention to the overall QoL and physical and psychological health of mothers of adolescents with DD. Since our findings raise the importance of family strength in the QoL of this population, programs to improve family strength need to be implemented and strengthened. Interventions to improve perceived health and decrease depression should be applied, and knowledge on adolescent characteristics and changes should be delivered to caregivers when providing education and consultations. The findings will be helpful for developing educational and counseling programs for this population.

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153. Kalb LG, DiBella F, Jang YS, Fueyo M, Mahajan R, Vasa RA. Mental Health Crisis Screening in Youth with Autism Spectrum Disorder. J Clin Child Adolesc Psychol;2022 (Sep 21):1-9.

OBJECTIVE: While a growing body of evidence suggests youth with autism are at increased risk of experiencing a mental health crisis, no study has screened for crises in an outpatient setting. The current study fills this gap by examining a) the feasibility and utility of conducting routine crisis screenings; b) the psychometrics of a brief crisis screener (the Mental Health Crisis Assessment Scale-Revised; MCAS-R); and, c) the prevalence of and types of behaviors associated with crises. METHOD: This study was conducted at two different outpatient mental health clinics. Screenings were conducted using the MCAS-R, a 23-item parent report measure. A total of 406 youth with autism (76% Male; 72% White; M = 11.2y; SD = 3.5y), evenly divided across clinics, were screened. Seven clinicians conducted a clinical visit, which incorporated the results of the MCAS-R, to determine whether the child was in crisis. RESULTS: Eighty percent of youth were successfully screened, suggesting crisis screening is feasible. Most parents (73%) felt the MCAS-R helped communicate concerns with the clinician; few (<6%) felt the survey was too long or upsetting. All clinicians (100%) indicated that the MCAS-R was very helpful in facilitating communication and identifying/mitigating safety concerns; although, 33% reported screenings "sometimes" interrupted clinical flow. The MCAS-R strongly aligned with clinician ratings (88% correctly classified). Twenty percent of youth met the cutoff for crisis; aggression and self-injurious behaviors were the most common reasons for crises. CONCLUSION: This study suggests that outpatient crisis screening via the MCAS-R is feasible, accurate, and well received by parents and clinicians. ABBREVIATIONS: ASD: Autism Spectrum Disorder; MCAS-R: Mental Health Assessment Crisis Scale-Revised; DSM-5: Diagnostic and Statistical Manual, 5(th) Edition; ADOS-2: Autism Diagnostic Observation Schedule, Second Edition; ROC: Receiver Operating Curve.

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154. Kane CL, DeBar RM. A Descriptive Review of Telehealth for Individuals With Autism Spectrum Disorder. Behav Modif;2022 (Sep 16):1454455221121085.

Since the early 2000s, telehealth has been used to provide behavior analytic intervention to individuals with autism spectrum disorder (ASD). Evaluating evidence supporting telehealth remains valuable, especially as there has been increased accessibility since the COVID-19 pandemic. Although there is empirical support for telehealth as an effective service-delivery option, important variables (e.g., costs, implementer training) remain unknown. Despite potential roles in telehealth service-delivery models, a careful review of participant prerequisite skills, implementer characteristics (e.g., experience, education), technology variables (e.g., HIPAA compliance), and skill(s) targeted (i.e., mastered or untrained skills) have not been considered. Therefore, we aimed to extend prior telehealth literature reviews by evaluating current research across variables important for telehealth service-delivery involving individuals with ASD. We found thorough descriptions of participants and implementers, implementer training, and social validity evaluations. Limitations of telehealth literature include exclusion of teen and adult participants, limited description of prerequisite skills and evaluations of direct telehealth interventions. Future research areas were identified.

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155. Kangarani-Farahani M, Izadi-Najafabadi S, Zwicker JG. How does brain structure and function on MRI differ in children with autism spectrum disorder, developmental coordination disorder, and/or attention deficit hyperactivity disorder?. Int J Dev Neurosci;2022 (Sep 9)

AIM: The purpose of this study was to systematically review the neural similarities and differences in brain structure and function, measured by magnetic resonance imaging (MRI), in children with neurodevelopmental disorders that commonly co-occur to understand if and how they have shared neuronal characteristics. METHOD: Using systematic review methodology, the following databases were comprehensively searched: MEDLINE, EMBASE, CINAHL, CENTRAL, PsycINFO, and ProQuest from the earliest record up to December 2021. Inclusion criteria were (1) peer-reviewed studies, case reports, or theses; (2) children under 18 years of age with at least one of the following neurodevelopmental disorders: autism spectrum disorder (ASD), attention hyperactivity deficit disorder (ADHD), developmental coordination disorder (DCD), and their co-occurrence; and (3) studies based on MRI modalities (i.e., structural MRI, diffusion tensor imaging [DTI], and resting-state fMRI). Thirty-one studies that met the inclusion criteria were included for quality assessment by two independent reviewers using the Appraisal tool for Cross-Sectional Studies (AXIS). RESULTS: Studies compared brain structure and function of children with DCD and ADHD (n = 6), DCD and ASD (n = 1), ASD and ADHD (n = 17), and various combinations of these co-occurring conditions (n = 7). Structural neuroimaging (n = 15) was the most commonly reported modality, followed by resting-state (n = 8), DTI (n = 5), and multimodalities (n = 3). INTERPRETATION: Evidence indicated that the neural correlates of the co-occurring conditions were more widespread and distinct compared to a single diagnosis. The majority of findings (77%) suggested that each neurodevelopmental disorder had more distinct neural correlates than shared neural features, suggesting that each disorder is distinct despite commonly co-occurring with each other. As the number of papers examining the co-occurrence of ASD, DCD, and/or ADHD was limited and most findings were not corrected for multiple comparisons, these results must be interpreted with caution.

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156. Karaminis T, Stavrakaki S. The psychometric properties of the Greek version of the Social Communication Questionnaire. Autism Res;2022 (Sep);15(9):1768-1780.

There is a scarcity of diagnostic assessments and screening tools for autism spectrum disorders (ASD) in Greek. In this study, we examined the psychometric properties of the recently developed Greek version of the Social Communication Questionnaire (SCQ). We used parental responses for 311 children (mean age: 7.54 years old, SD = 1.92), 122 with a diagnosis of ASD (93 boys, 29 girls) and 189 neurotypical children (104 boys, 85 girls), with 167 responses referring to the Lifetime and 144 to the Current form of the SCQ. Both forms presented adequate construct validity based on the four-factor model, while in both forms, autistic children presented higher SCQ total and subscale scores (four factors) than typical children. The forms had excellent internal reliability. An item-response-theory analysis suggested that over 80% of test items fitted adequately a Rasch model, while a preliminary analysis of gender biases suggested that a small number of items (Lifetime: five; Current: six out of 39) were differentially sensitive to autistic symptomatology in boys and girls. A receiver-operating-characteristic analysis showed excellent diagnostic performance based on the SCQ total score (Lifetime: area-under-the-curve/AUC = 0.937, Current: AUC = 0.963), and acceptable to excellent discrimination for the four subscales (AUCs between 0.737 and 0.955). Our preliminary results suggest that the Greek SCQ presents satisfactory psychometric properties and can be used for differentiating children with ASD from typical children in initial assessments within clinical and research settings. LAY SUMMARY: Autism spectrum disorder (ASD or autism) is a lifelong neurodevelopmental condition with a prevalence of ~1.5%-2% and characterized by difficulties in social interaction and communication and repetitive and restricted behaviors. There is increasing concern that research in ASD has focused on a small number of languages and cultural settings and that this bias challenges the identification and diagnosis of the condition in other languages and cultures, which are underrepresented in autism research. One such language is Greek (spoken by ~13.5 million), for which there is a scarcity of standardized instruments for the diagnosis of autism. This study examines the psychometric properties of the recently published Greek version of the Social Communication Questionnaire (SCQ), a widely used screening tool for ASD. We conduct an in-depth psychometric analysis of the Greek SCQ, including both forms in which the instrument is available (Lifetime and Current). This analysis shows that the Greek SCQ can be used for differentiating children with ASD from typical children in initial assessments within clinical and research settings. The findings of this study have implications for clinicians, special educators and researchers working with Greek-speaking individuals with ASD and, more broadly, for cross-cultural autism research.

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157. Karrim SB, Flack PS, Naidoo U, Beagle S, Pontin A. The experiences of speech-language therapists providing telerehabilitation services to children with autism spectrum disorder. S Afr J Commun Disord;2022 (Aug 31);69(2):e1-e12.

BACKGROUND: There has been an increased emergence of the use of telerehabilitation by speech-language therapists (SLTs) in South Africa since the COVID-19 pandemic in 2020. OBJECTIVES: To explore the criteria that SLTs use when recommending telerehabilitation for children with autism spectrum disorder (ASD), the technical skills required, strategies used by SLTs, the restrictions encountered when conducting telerehabilitation and the views of SLTs on telerehabilitation in comparison to face-to-face therapy for children with ASD. METHOD: A descriptive, phenomenological, qualitative study design was utilised. Purposive and snowball sampling techniques were employed. Six SLTs from the private sector, who had experience providing telerehabilitation to children with ASD, were recruited from three provinces in South Africa. Data were gathered via semistructured online interviews and analysed using thematic analysis. RESULTS: Two out of five themes that emerged from this study are presented in this paper, i.e. approaches to telerehabilitation and the benefits of telerehabilitation. Results revealed that telerehabilitation was used to provide assessment and therapy during the COVID-19 pandemic lockdowns as an alternative method of service delivery. Assessment and treatment strategies included synchronous and asynchronous methods, family collaboration, social stories, frequent breaks and interactive sessions. Telerehabilitation reduced the client’s and SLT’s travel costs and increased caregiver and clinician satisfaction. Client progress and increased awareness of SLT were viewed as further benefits. CONCLUSION: Telerehabilitation was found to be beneficial to most children with ASD, and in most cases, the benefits far outweighed the challenges encountered. Clinical implications included the need for caregiver support in facilitating effective carryover, an increase in SLTs’ knowledge and the opportunity to provide services to a broader geographical range. Limitations of the study are included.

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158. Kato Y, Yokokura M, Iwabuchi T, Murayama C, Harada T, Goto T, Tamayama T, Kameno Y, Wakuda T, Kuwabara H, Benner S, Senju A, Tsukada H, Nishizawa S, Ouchi Y, Yamasue H. Lower Availability of Mitochondrial Complex I in Anterior Cingulate Cortex in Autism: A Positron Emission Tomography Study. Am J Psychiatry;2022 (Sep 7):appiajp22010014.

OBJECTIVE: Mitochondrial dysfunction has been implicated in the pathophysiology of autism spectrum disorder (ASD) in previous studies of postmortem brain or peripheral samples. The authors investigated whether and where mitochondrial dysfunction occurs in the living brains of individuals with ASD and to identify the clinical correlates of detected mitochondrial dysfunction. METHODS: This case-control study used positron emission tomography (PET) with 2-tert-butyl-4-chloro-5-{6-[2-(2-[(18)F]fluoroethoxy)-ethoxy]-pyridin-3-ylmethoxy}-2H-pyridazin-3-one ([(18)F]BCPP-EF), a radioligand that binds to the mitochondrial electron transport chain complex I, to examine the topographical distribution of mitochondrial dysfunction in living brains of individuals with ASD. Twenty-three adult males with high-functioning ASD, with no psychiatric comorbidities and free of psychotropic medication, and 24 typically developed males with no psychiatric diagnoses, matched with the ASD group on age, parental socioeconomic background, and IQ, underwent [(18)F]BCPP-EF PET measurements. Individuals with mitochondrial disease were excluded by clinical evaluation and blood tests for abnormalities in lactate and pyruvate levels. RESULTS: Among the brain regions in which mitochondrial dysfunction has been reported in postmortem studies of autistic brains, participants with ASD had significantly decreased [(18)F]BCPP-EF availability specifically in the anterior cingulate cortex compared with typically developed participants. The regional specificity was revealed by a significant interaction between diagnosis and brain regions. Moreover, the lower [(18)F]BCPP-EF availability in the anterior cingulate cortex was significantly correlated with the more severe ASD core symptom of social communication deficits. CONCLUSIONS: This study provides direct evidence to link in vivo brain mitochondrial dysfunction with ASD pathophysiology and its communicational deficits. The findings support the possibility that mitochondrial electron transport chain complex I is a novel therapeutic target for ASD core symptoms.

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159. Keles U, Kliemann D, Byrge L, Saarimäki H, Paul LK, Kennedy DP, Adolphs R. Atypical gaze patterns in autistic adults are heterogeneous across but reliable within individuals. Mol Autism;2022 (Sep 24);13(1):39.

BACKGROUND: Across behavioral studies, autistic individuals show greater variability than typically developing individuals. However, it remains unknown to what extent this variability arises from heterogeneity across individuals, or from unreliability within individuals. Here, we focus on eye tracking, which provides rich dependent measures that have been used extensively in studies of autism. Autistic individuals have an atypical gaze onto both static visual images and dynamic videos that could be leveraged for diagnostic purposes if the above open question could be addressed. METHODS: We tested three competing hypotheses: (1) that gaze patterns of autistic individuals are less reliable or noisier than those of controls, (2) that atypical gaze patterns are individually reliable but heterogeneous across autistic individuals, or (3) that atypical gaze patterns are individually reliable and also homogeneous among autistic individuals. We collected desktop-based eye tracking data from two different full-length television sitcom episodes, at two independent sites (Caltech and Indiana University), in a total of over 150 adult participants (N = 48 autistic individuals with IQ in the normal range, 105 controls) and quantified gaze onto features of the videos using automated computer vision-based feature extraction. RESULTS: We found support for the second of these hypotheses. Autistic people and controls showed equivalently reliable gaze onto specific features of videos, such as faces, so much so that individuals could be identified significantly above chance using a fingerprinting approach from video epochs as short as 2 min. However, classification of participants into diagnostic groups based on their eye tracking data failed to produce clear group classifications, due to heterogeneity in the autistic group. LIMITATIONS: Three limitations are the relatively small sample size, assessment across only two videos (from the same television series), and the absence of other dependent measures (e.g., neuroimaging or genetics) that might have revealed individual-level variability that was not evident with eye tracking. Future studies should expand to larger samples across longer longitudinal epochs, an aim that is now becoming feasible with Internet- and phone-based eye tracking. CONCLUSIONS: These findings pave the way for the investigation of autism subtypes, and for elucidating the specific visual features that best discriminate gaze patterns-directions that will also combine with and inform neuroimaging and genetic studies of this complex disorder.

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160. Ketcheson LR, Pitchford EA, Staples KL, MacDonald M, Ulrich DA. Supporting the need for the motor domain to be included in the definition of autism spectrum disorder: A response to Bishop et al.’s critique of Bhat (2021). Autism Res;2022 (Sep 2)

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161. Kim BU, Kim HW, Park EJ, Kim JH, Boon-Yasidhi V, Tarugsa J, Reyes A, Manalo SG, Joung YS. Long-Term Improvement and Safety of Aripiprazole for Irritability and Adaptive Function in Asian Children and Adolescents with Autistic Disorder: A 52-Week, Multinational, Multicenter, Open-Label Study. J Child Adolesc Psychopharmacol;2022 (Sep);32(7):390-399.

Objective: Evaluate the long-term improvement and safety of aripiprazole in treating irritability in Asian children and adolescents (6-17 years) with autistic disorder. Methods: A 52-week, open-label, flexibly dosed (2-15 mg/day) study on the improvement and safety of aripiprazole in patients with autistic disorder who had completed an antecedent 12-week open-label study. The evaluation of efficacy was conducted using the Aberrant Behavior Checklist (ABC), Clinical Global Impression (CGI) scale, Child Yale-Brown Obsessive-Compulsive Scale (CY-BOCS), Vineland Adaptive Behavior Scale (VABS), and the Parenting Stress Index-Short Form (PSI-SF). Safety and tolerability measurements included adverse events, vital signs, electrocardiography, laboratory tests, body weight, and extrapyramidal symptoms (EPSs). Results: During the 52-week treatment, all effectiveness variables, including ABC, CGI, CY-BOCS, VABS, and PSI-SF scores, showed improvement. Regarding safety, the proportion of patients who experienced any treatment-emergent adverse events (TEAEs) was 58.62% (34/58 subjects, 75 cases). The most common TEAE was nasopharyngitis reported in 20.69% (15/58 subjects, 15 cases) and the other TEAE with an incidence of ≥10% was weight increases in 18.97% (11/58 subjects, 11 cases). Of them, 27.59% (16/58 subjects, 28 cases) experienced adverse drug reactions (ADRs). The most common ADR was weight increase reported in 15.52% (9/58 subjects, nine cases). The incidence of serious adverse events (SAEs) was 5.17% (3/58 subjects, three cases), which were epiphysiolysis, seizure, and a suicide attempt, but these were not ADRs. There were no clinically significant changes found in the evaluation of EPSs. Conclusions: Aripiprazole showed improvement for behavioral problems and adaptive functioning and was well tolerated in patients with autistic disorder until nearly a year after drug use. The Clinical Trial Registration number: NCT02069977.

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162. Kim JH, Hughes OE, Demissie SA, Kunzier TJ, Cheung WC, Monarrez EC, Burke MM, Rossetti Z. Lessons Learned From Research Collaboration Among People With and Without Developmental Disabilities. Intellect Dev Disabil;2022 (Oct 1);60(5):405-415.

Research related to the developmental disability (DD) community should include collaboration with individuals with DD. Unfortunately, people with DD are infrequently involved in research projects in meaningful ways, and there is little guidance about how to collaborate equitably with researchers with DD. The purpose of this article is to share lessons learned from a collaborative research study among researchers with and without DD using both qualitative and quantitative methods to develop and examine the effectiveness of a civic engagement intervention for transition-aged youth with disabilities. It includes how our research team compensated researchers with DD, clarified team member roles, leveraged the expertise of researchers with DD in using both qualitative and quantitative methods, and integrated technology throughout the research process.

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163. Kim KN, Sohn JH, Cho SJ, Seo HY, Kim S, Hong YC. Effects of short-term exposure to air pollution on hospital admissions for autism spectrum disorder in Korean school-aged children: a nationwide time-series study. BMJ Open;2022 (Sep 20);12(9):e058286.

OBJECTIVES: This study explored the effects of short-term exposure to air pollution on hospital admissions for autism spectrum disorder (ASD), a proxy for symptom aggravation, among Korean children aged 5-14 years. DESIGN: Time-series study. SETTING, PARTICIPANTS AND OUTCOME MEASURES: We used data from the National Health Insurance Service (2011-2015). Daily concentrations of fine particulate matter (PM(2.5)), nitrogen dioxide (NO(2)) and ozone (O(3)) levels in each region were used as exposures. ASD cases were defined based on a principal admission diagnosis of the claims data. We applied distributed lag non-linear models and a generalised difference-in-differences method to the quasi-Poisson models to estimate the causal effects of air pollution for up to 6 days. We also performed weighted quantile sum regression analyses to assess the combined effects of air pollution mixtures. RESULTS: PM(2.5) levels at lag day 1, NO(2) levels at lag day 5 and O(3) levels at lag day 4 increased the risks of hospital admissions for ASD (relative risk (RR)=1.17, 95% CI 1.10 to 1.25 for PM(2.5); RR=1.09, 95% CI 1.01 to 1.18 for NO(2) and RR=1.03, 95% CI 1.00 to 1.06 for O(3)). The mean daily count of hospital admissions for ASD was 8.5, and it would be 7.3, 7.8 and 8.3 when the PM(2.5) levels would be decreased by 10.0 µg/m(3), NO(2) by 10 ppb and O(3) by 10 ppb, respectively. The weighted quantile sum index, constructed from PM(2.5), NO(2) and O(3) levels, was associated with a higher risk of hospital admissions for ASD (RR 1.29, 95% CI 1.14 to 1.46), where NO(2) was found to contribute to the effects most (the weight of 0.80). CONCLUSIONS: These results emphasise that reduction of air pollution exposure should be considered for ASD symptom management, with important implications for the quality of life and economic costs.

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164. Kim S, Oh H, Choi SH, Yoo YE, Noh YW, Cho Y, Im GH, Lee C, Oh Y, Yang E, Kim G, Chung WS, Kim H, Kang H, Bae Y, Kim SG, Kim E. Postnatal age-differential ASD-like transcriptomic, synaptic, and behavioral deficits in Myt1l-mutant mice. Cell Rep;2022 (Sep 20);40(12):111398.

Myelin transcription factor 1 like (Myt1l), a zinc-finger transcription factor, promotes neuronal differentiation and is implicated in autism spectrum disorder (ASD) and intellectual disability. However, it remains unclear whether Myt1l promotes neuronal differentiation in vivo and its deficiency in mice leads to disease-related phenotypes. Here, we report that Myt1l-heterozygous mutant (Myt1l-HT) mice display postnatal age-differential ASD-related phenotypes: newborn Myt1l-HT mice, with strong Myt1l expression, show ASD-like transcriptomic changes involving decreased synaptic gene expression and prefrontal excitatory synaptic transmission and altered righting reflex. Juvenile Myt1l-HT mice, with markedly decreased Myt1l expression, display reverse ASD-like transcriptomes, increased prefrontal excitatory transmission, and largely normal behaviors. Adult Myt1l-HT mice show ASD-like transcriptomes involving astrocytic and microglial gene upregulation, increased prefrontal inhibitory transmission, and behavioral deficits. Therefore, Myt1l haploinsufficiency leads to ASD-related phenotypes in newborn mice, which are temporarily normalized in juveniles but re-appear in adults, pointing to continuing phenotypic changes long after a marked decrease of Myt1l expression in juveniles.

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165. Kim SA, Baczewski L, Pizzano M, Kasari C, Sturm A. Discrimination and Harassment Experiences of Autistic College Students and Their Neurotypical Peers: Risk and Protective Factors. J Autism Dev Disord;2022 (Sep 14)

This study examines autistic and non-autistic college students’ experiences of discrimination and harassment and identifies protective and risk factors. A nationwide survey was used to match autistic students (N = 290) and non-autistic students (N = 290) on co-occurring diagnoses and demographic characteristics. Multiple regression and interaction analysis revealed that faculty support was protective against discrimination and harassment regardless of autism status. Habits of mind was particularly protective for autistic students against harassment. Any student who engaged in school-facilitated events was more likely to experience discrimination and harassment, but the risk was heightened for autistic students. Findings highlight the importance of faculty support in fostering positive interpersonal experiences on campus, and demonstrate the need to address deeper college campus issues with respect to neurodiversity.

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166. Kim SY, Gillespie-Lynch K. Do Autistic People’s Support Needs and Non-Autistic People’s Support for the Neurodiversity Movement Contribute to Heightened Autism Stigma in South Korea vs. the US?. J Autism Dev Disord;2022 (Sep 7):1-15.

We examined stigma towards vignette characters representing diverse autistic characteristics (social, non-speaking, or repetitive interests or restricted behaviors; RIRB) among 259 South Korean and 240 American participants (age range = 18 ~ 74). Within each domain, participants were randomized to read a vignette depicting low or high support needs. Koreans reported greater stigma towards autistic characteristics and less awareness of and support for the neurodiversity movement than Americans. Autistic characters’ support needs and rater characteristics (autism knowledge, neurodiversity endorsement, and contact quantity) predicted stigma in at least one domain, and after accounting for these variables, participants’ nationality was suggestively associated only with stigma towards social characteristics and RIRB. Findings highlight the need for culturally adapted-training that provides contact with diverse autistic people.

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167. Kim Y, Kadlaskar G, Keehn RM, Keehn B. Measures of tonic and phasic activity of the locus coeruleus-norepinephrine system in children with autism spectrum disorder: An event-related potential and pupillometry study. Autism Res;2022 (Sep 26)

A growing body of research suggests that locus coeruleus-norepinephrine (LC-NE) system may function differently in individuals with autism spectrum disorder (ASD). Understanding the dynamics of both tonic (resting pupil diameter) and phasic (pupil dilation response [PDR] and event-related potential [ERP]) indices may provide meaningful insights about the nature of LC-NE function in ASD. Twenty-four children with ASD and 27 age- and nonverbal-IQ matched typically developing (TD) children completed two experiments: (1) a resting eye-tracking task to measure tonic pupil diameter, and (2) a three-stimulus oddball paradigm to measure phasic responsivity using PDR and ERP. Consistent with prior reports, our results indicate that children with ASD exhibit increased tonic (resting pupil diameter) and reduced phasic (PDR and ERP) activity of the LC-NE system compared to their TD peers. For both groups, decreased phasic responsivity was associated with increased resting pupil diameter. Lastly, tonic and phasic LC-NE indices were primarily related to measures of attention-deficit/hyperactivity disorder (ADHD), and not ASD, symptomatology. These findings expand our understanding of neurophysiological differences present in ASD and demonstrate that aberrant LC-NE activation may be associated with atypical arousal and decreased responsivity to behaviorally-relevant information in ASD. LAY SUMMARY: The locus coeruleus (LC), a small brain stem nucleus, is the primary source of norepinephrine (NE), plays an important role in attention and arousal, and may function differently in autism spectrum disorder (ASD). Using pupillometry and event-related potentials, we found that children with ASD show increased tonic and reduced phasic LC-NE activation compared to their typically developing peers. These differences in LC-NE function may be associated with impairments in attention and arousal regulation in ASD.

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168. Kingsdorf S, Pancocha K, Vadurova H, Dosedel T. Piloting an E-Learning Applied Behavior Analysis Course for Caregivers of Children with Autism in the Czech Republic. J Behav Educ;2022 (Sep 8):1-32.

The telehealth model can allow for cost-effective supports in areas where limited applied behavior analysis (ABA) services are available. As a result, e-learning programs for parents of children with autism have become part of the telehealth paradigm. In the Czech Republic, one of the many places where there are limited ABA supports and no available ABA e-learning courses for families, the development of an e-learning course that is freely available, and linguistically and culturally appropriate, is needed. It was anticipated that this course could mirror some of the free e-learning materials available to English-speaking caregivers and provide foundational knowledge to later support more intensive ABA services. Therefore, a pilot study was developed to assess an ABA e-learning course for caregivers in the Czech Republic with the aim of validating its efficacy and assessing whether a synchronous component was needed for the best outcomes. The materials were not meant to replace best practices in more intensive caregiver training but provide foundational skills for later more successful local services. Results demonstrated that a total of 33 caregivers completed the course, making statistically significant gains in their ABA knowledge and rating the course highly. Interestingly, the addition of the synchronous component only impacted the knowledge gain outcome. Suggestions for supporting caregivers in e-learning course completion and directions for future research are additionally explored.

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169. Knowland VCP, Baker DH, Gaskell MG, van Rijn E, Walker SA, Norbury CF, Henderson LM. Neural Responses to Novel and Existing Words in Children with Autism Spectrum and Developmental Language Disorder. J Cogn;2022;5(1):14.

The formation of new phonological representations is key in establishing items in the mental lexicon. Phonological forms become stable with repetition, time and sleep. Atypicality in the establishment of new word forms is characteristic of children with developmental language disorder (DLD) and autism spectrum disorder (ASD), yet neural changes in response to novel word forms over time have not yet been directly compared in these groups. This study measured habituation of event-related-potentials (ERPs) to novel and known words within and between two sessions spaced 24 hours apart in typically developing (TD) children, and their peers with DLD or ASD. We hypothesised that modulation of the auditory N400 amplitude would mark real-time changes in lexical processing with habituation evident within and across sessions in the TD group, while the DLD group would show attenuated habituation within sessions, and the ASD group attenuated habituation between sessions. Twenty-one typically developing children, 19 children with ASD, and 16 children with DLD listened passively to known and novel words on two consecutive days, while ERPs were recorded using dry electrodes. Counter to our hypotheses, no habituation effect emerged within sessions. However, responses did habituate between sessions, with this effect being reduced in the DLD group, indicating less pre-activation of lexical representations in response to words encountered the previous day. No differences in change over time were observed between the TD and ASD groups. These data are in keeping with theories stressing the importance of sleep-related consolidation in word learning.

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170. Koch E, Demontis D. Drug repurposing candidates to treat core symptoms in autism spectrum disorder. Front Pharmacol;2022;13:995439.

Autism spectrum disorder (ASD) is characterized by high heritability and clinical heterogeneity. The main core symptoms are social communication deficits. There are no medications approved for the treatment of these symptoms, and medications used to treat non-specific symptoms have serious side effects. To identify potential drugs for repurposing to effectively treat ASD core symptoms, we studied ASD risk genes within networks of protein-protein interactions of gene products. We first defined an ASD network from network-based analyses, and identified approved drugs known to interact with proteins within this network. Thereafter, we evaluated if these drugs can change ASD-associated gene expression perturbations in genes in the ASD network. This was done by analyses of drug-induced versus ASD-associated gene expression, where opposite gene expression perturbations in drug versus ASD indicate that the drug could counteract ASD-associated perturbations. Four drugs showing significant (p < 0.05) opposite gene expression perturbations in drug versus ASD were identified: Loperamide, bromocriptine, drospirenone, and progesterone. These drugs act on ASD-related biological systems, indicating that these drugs could effectively treat ASD core symptoms. Based on our bioinformatics analyses of ASD genetics, we shortlist potential drug repurposing candidates that warrant clinical translation to treat core symptoms in ASD.

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171. Konrad J, Marrus N, Lang CE. A Feasibility Study of Bilateral Wrist Sensors for Measuring Motor Traits in Children With Autism. Percept Mot Skills;2022 (Sep 6):315125221125275.

Direct, quantitative measures of hyperactivity and motor coordination, two motor characteristics associated with impairment in autism, are limited. Wearable sensors can objectively index real-world movement variables that may relate to these behaviors. Here, we explored the feasibility of bilateral wrist accelerometers for measuring upper limb activity in 3-10-year-olds with autism (n = 22; 19 boys, 3 girls; M age = 5.64, SD = 2.73 years) and without autism (n = 26; 15 boys, 11 girls; M age = 6.26, SD = 2.47 years). We investigated the relationships between movement characteristics related to duration, intensity, complexity, and symmetry on the one hand and parent-reported hyperactivity and motor coordination on the other. Participants with and without autism wore the sensors for 12-hour periods. Sensor variables varied by age but not sex, with movement intensity and complexity moderately related to motor coordination. These findings lend preliminary support to wearable sensors as a means of providing ecologically-valid metrics of motor characteristics that impact adaptive function in children with autism.

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172. Korisky A, Goldstein A, Gordon I. The dual neural effects of oxytocin in autistic youth: results from a randomized trial. Sci Rep;2022 (Sep 29);12(1):16304.

Recent discoveries have highlighted the effects of oxytocin (OT) on social behavior and perception among autistic individuals. However, a gap persists in the literature regarding the potential effects of OT and the neural temporal dynamics due to OT administration. We explored the effect of OT on autistic individuals using magnetoencephalography (MEG), focusing on M100, M170, and M250, social perception-related components that tend to show atypical patterns in autistic individuals. Twenty-five autistic adolescents participated in this randomized, double-blind MEG study. Autistic individuals arrived at the lab twice and received an acute dose of intranasal OT or placebo in each session. During the scans, participants were asked to identify pictures of social and non-social stimuli. Additionally, 23 typically developing (TD) adolescents performed the same task in the MEG as a benchmark that allowed us to better characterize neural regions of interest and behavioral results for this age group in this task. A source-model beamformer analysis revealed that OT enhanced neural activity for social stimuli in frontal regions during M170. Additionally, in each of the preselected time windows, OT increased activation in the left hemisphere, regardless of the content of the presented stimuli. We suggest that OT increased the processing of social stimuli through two separate mechanisms. First, OT increased neural activity in a nonspecific manner, allowing increased allocation of attention toward the stimuli. Second, OT enhanced M170 activity in frontal regions only in response to social stimuli. These results reveal the temporal dynamics of the effects of OT on the early stages of social and non-social perception in autistic adolescents.Trial registration: This study was a part of a project registered as clinical trial October 27th, 2021. ClinicalTrials.gov Identifier: NCT05096676.

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173. Korisky A, Gordon I, Goldstein A. Oxytocin impacts top-down and bottom-up social perception in adolescents with ASD: a MEG study of neural connectivity. Mol Autism;2022 (Sep 5);13(1):36.

BACKGROUND: In the last decade, accumulative evidence has shown that oxytocin can modulate social perception in typically developed individuals and individuals diagnosed with autism. While several studies show that oxytocin (OT) modulates neural activation in social-related neural regions, the mechanism that underlies OT effects in ASD is not fully known yet. Despite evidence from animal studies on connections between the oxytocinergic system and excitation/inhibition neural balance, the influence of OT on oscillatory responses among individuals with ASD has been rarely examined. To bridge these gaps in knowledge, we investigated the effects of OT on both social and non-social stimuli while focusing on its specific influence on the neural connectivity between three socially related neural regions-the left and right fusiform and the medial frontal cortex. METHODS: Twenty-five adolescents with ASD participated in a wall-established social task during a randomized, double-blind placebo-controlled MEG and OT administration study. Our main task was a social-related task that required the identification of social and non-social-related pictures. We hypothesized that OT would modulate the oscillatory connectivity between three pre-selected regions of interest to be more adaptive to social processing. Specifically, we focused on alpha and gamma bands which are known to play an important role in face processing and top-down/bottom-up balance. RESULTS: Compared to placebo, OT reduced the connectivity between the medial frontal cortex and the fusiform in the low gamma more for social stimuli than for non-social ones, a reduction that was correlated with individuals’ performance in the task. Additionally, for both social and non-social stimuli, OT increased the connectivity in the alpha and beta bands. LIMITATIONS: Sample size was determined based on sample sizes previously reported in MEG in clinical populations, especially OT administration studies in combination with neuroimaging in ASD. We were limited in our capability to recruit for such a study, and as such, the sample size was not based on a priori power analysis. Additionally, we limited our analyses to specific neural bands and regions. To validate the current results, future studies may be needed to explore other parameters using whole-brain approaches in larger samples. CONCLUSION: These results suggest that OT influenced social perception by modifying the communication between frontal and posterior regions, an attenuation that potentially impacts both social and non-social early perception. We also show that OT influences differ between top-down and bottom-up processes, depending on the social context. Overall, by showing that OT influences both social-related perception and overall attention during early processing stages, we add new information to the existing understanding of the impact of OT on neural processing in ASD. Furthermore, by highlighting the influence of OT on early perception, we provide new directions for treatments for difficulties in early attentional phases in this population. Trial registration Registered on October 27, 2021-Retrospectively registered, https://clinicaltrials.gov/ct2/show/record/NCT05096676 (details on clinical registration can be found in www. CLINICALTRIAL: gov , unique identifier: NCT05096676 ).

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174. Krakowski A. Balanced Sex Ratios and the Autism Continuum. Biol Psychiatry;2022 (Oct 15);92(8):e35-e36.

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175. Krepischi ACV, Villela D, da Costa SS, Mazzonetto PC, Schauren J, Migliavacca MP, Milanezi F, Santos JG, Guida G, Guarischi-Sousa R, Campana G, Kok F, Schlesinger D, Kitajima JP, Campagnari F, Bertola DR, Vianna-Morgante AM, Pearson PL, Rosenberg C. Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil. Sci Rep;2022 (Sep 7);12(1):15184.

Chromosomal microarray analysis (CMA) has been recommended and practiced routinely since 2010 both in the USA and Europe as the first-tier cytogenetic test for patients with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorders, and/or multiple congenital anomalies. However, in Brazil, the use of CMA is still limited, due to its high cost and complexity in integrating the results from both the private and public health systems. Although Brazil has one of the world’s largest single-payer public healthcare systems, nearly all patients referred for CMA come from the private sector, resulting in only a small number of CMA studies in Brazilian cohorts. To date, this study is by far the largest Brazilian cohort (n = 5788) studied by CMA and is derived from a joint collaboration formed by the University of São Paulo and three private genetic diagnostic centers to investigate the genetic bases of neurodevelopmental disorders and congenital abnormalities. We identified 2,279 clinically relevant CNVs in 1886 patients, not including the 26 cases of UPD found. Among detected CNVs, the corresponding frequency of each category was 55.6% Pathogenic, 4.4% Likely Pathogenic and 40% VUS. The diagnostic yield, by taking into account Pathogenic, Likely Pathogenic and UPDs, was 19.7%. Since the rational for the classification is mostly based on Mendelian or highly penetrant variants, it was not surprising that a second event was detected in 26% of those cases of predisposition syndromes. Although it is common practice to investigate the inheritance of VUS in most laboratories around the world to determine the inheritance of the variant, our results indicate an extremely low cost-benefit of this approach, and strongly suggest that in cases of a limited budget, investigation of the parents of VUS carriers using CMA should not be prioritized.

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176. Kulsirichawaroj P, Likasitwattanakul S, Boonsimma P, Prangphan K, Chanvanichtrakool M. Neuronal Ceroid Lipofuscinoses Presenting as Rett-like Phenotype: A Two-Case Report From Thailand. Pediatr Neurol;2022 (Aug 17);136:50-55.

BACKGROUND: Neuronal ceroid lipofuscinoses (NCLs) (hereafter described as CLN disease) comprise a rare and life-limiting set of genetically inherited neurodegenerative disorders that are characterized by abnormal lysosomal storage. The NCL disorders are, collectively, the most common group of degenerative brain disorders in children. PATIENT DESCRIPTIONS: We report two cases of CLN disease that were diagnosed and treated at the Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand. Both cases of CLN disease (CLN1 and CLN6 diagnosed in 2016 and 2017, respectively) profiled in this report presented with clinical features of Rett syndrome. In the first case, a 2-year-old girl presented with Rett-like clinical features, including global developmental regression and hand-wringing action. Single-gene analysis of the MECP2 gene was negative. However, PPT1 gene sequencing revealed a novel homozygous frameshift mutation, c.629_630dupGT (p.Ile211Valfs∗10). In the second case, a 7.5-year-old girl presented with ataxia, progressive myoclonic epilepsy, and Rett-like hand-wringing. A c.794_796delCCT variant in the CLN6 gene was identified by whole-exome sequencing. Fingerprint bodies from electron microscopy of the skin also supported a diagnosis of CLN disease in our second case. DISCUSSION: Presentation with clinical features of Rett syndrome has only been reported in patients diagnosed with CLN1 and CLN7 disease, and never in those with CLN6. CONCLUSIONS: Physicians should suspect and investigate for CLN disease in patients with Rett-like phenotype who are negative for MECP2 mutation, especially in patients with visual impairment and early prominent brain atrophy.

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177. Kunda M, Zhou S, Gong G, Lu H. Improving Multi-Site Autism Classification via Site-Dependence Minimization and Second-Order Functional Connectivity. IEEE Trans Med Imaging;2022 (Sep 2);PP

Machine learning has been widely used to develop classification models for autism spectrum disorder (ASD) using neuroimaging data. Recently, studies have shifted towards using large multi-site neuroimaging datasets to boost the clinical applicability and statistical power of results. However, the classification performance is hindered by the heterogeneous nature of agglomerative datasets. In this paper, we propose new methods for multi-site autism classification using the Autism Brain Imaging Data Exchange (ABIDE) dataset. We firstly propose a new second-order measure of functional connectivity (FC) named as Tangent Pearson embedding to extract better features for classification. Then we assess the statistical dependence between acquisition sites and FC features, and take a domain adaptation approach to minimize the site dependence of FC features to improve classification. Our analysis shows that 1) statistical dependence between site and FC features is statistically significant at the 5% level, and 2) extracting second-order features from neuroimaging data and minimizing their site dependence can improve over state-of-the-art classification results, achieving a classification accuracy of 73%. The code is available at https: //github.com/kundaMwiza/fMRI-site-adaptation.

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178. Kyle G, Connolly A. Developing an e-learning curriculum to educate healthcare staff in the acute hospital setting about autism. Br J Nurs;2022 (Sep 22);31(17):894-900.

When attending acute hospital settings, autistic children and adults rely on health professionals and ancillary staff to interact with them appropriately to facilitate accurate diagnoses and management of health concerns. Health outcomes for autistic people are adversely affected by comorbidities as well as difficulties in accessing and navigating acute healthcare environments. These factors demonstrate a need to develop targeted education for healthcare staff working in the acute hospital setting. This article discusses the background to the project, including the results of a literature review that highlighted some of the difficulties this patient group experiences in accessing health care. It discusses the development and evaluation of an e-learning education programme for healthcare staff working in an acute hospital setting using Kern et al’s (1998) six-step approach to curriculum development. Staff reported a desire to learn more about autism and how to make patient consultations and experiences more accessible and productive. It was acknowledged that there are many undiagnosed autistic adults navigating the acute health system and it is anticipated that the e-learning programme will assist staff in identifying and meeting their needs. During research with an autism advocacy group, there was a clear recommendation for the use of the term ‘autistic person’ rather than ‘person with autism’, which is reflected in the resulting education programme and this article.

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179. Lahiri R, Nasir M, Kumar M, Kim SH, Bishop S, Lord C, Narayanan S. Interpersonal synchrony across vocal and lexical modalities in interactions involving children with autism spectrum disorder. JASA Express Lett;2022 (Sep);2(9):095202.

Quantifying behavioral synchrony can inform clinical diagnosis, long-term monitoring, and individualised interventions in neuro-developmental disorders characterized by deficit in communication and social interaction, such as autism spectrum disorder. In this work, three different objective measures of interpersonal synchrony are evaluated across vocal and linguistic communication modalities. For vocal prosodic and spectral features, dynamic time warping distance and squared cosine distance of (feature-wise) complexity are used, and for lexical features, word mover’s distance is applied to capture behavioral synchrony. It is shown that these interpersonal vocal and linguistic synchrony measures capture complementary information that helps in characterizing overall behavioral patterns.

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180. Laidi C, Floris DL, Tillmann J, Elandaloussi Y, Zabihi M, Charman T, Wolfers T, Durston S, Moessnang C, Dell’Acqua F, Ecker C, Loth E, Murphy D, Baron-Cohen S, Buitelaar JK, Marquand AF, Beckmann CF, Frouin V, Leboyer M, Duchesnay E, Coupé P, Houenou J. Cerebellar Atypicalities in Autism?. Biol Psychiatry;2022 (Oct 15);92(8):674-682.

BACKGROUND: The cerebellum contains more than 50% of the brain’s neurons and is involved in social cognition. Cerebellar anatomical atypicalities have repeatedly been reported in individuals with autism. However, studies have yielded inconsistent findings, likely because of a lack of statistical power, and did not capture the clinical and neuroanatomical diversity of autism. Our aim was to better understand cerebellar anatomy and its diversity in autism. METHODS: We studied cerebellar gray matter morphology in 274 individuals with autism and 219 control subjects of a multicenter European cohort, EU-AIMS LEAP (European Autism Interventions-A Multicentre Study for Developing New Medications; Longitudinal European Autism Project). To ensure the robustness of our results, we conducted lobular parcellation of the cerebellum with 2 different pipelines in addition to voxel-based morphometry. We performed statistical analyses with linear, multivariate (including normative modeling), and meta-analytic approaches to capture the diversity of cerebellar anatomy in individuals with autism and control subjects. Finally, we performed a dimensional analysis of cerebellar anatomy in an independent cohort of 352 individuals with autism-related symptoms. RESULTS: We did not find any significant difference in the cerebellum when comparing individuals with autism and control subjects using linear models. In addition, there were no significant deviations in our normative models in the cerebellum in individuals with autism. Finally, we found no evidence of cerebellar atypicalities related to age, IQ, sex, or social functioning in individuals with autism. CONCLUSIONS: Despite positive results published in the last decade from relatively small samples, our results suggest that there is no striking difference in cerebellar anatomy of individuals with autism.

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181. Lampinen LA, Zheng S, Taylor JL, Adams RE, Pezzimenti F, Asarnow LD, Bishop SL. Patterns of sleep disturbances and associations with depressive symptoms in autistic young adults. Autism Res;2022 (Sep 9)

Autistic individuals are at an increased risk for both sleep disturbances and depression. While studies in the general population and in autistic adults have drawn general links between sleep disturbances and mental health, few studies have examined the extent to which specific sleep problems may be implicated in the extremely high rates of depression among autistic adults. This study aimed to describe the patterns of sleep disturbances in autistic young adults, and their associations with depressive symptoms while controlling for relevant demographic factors. A sample of 304 legally independent adults (age 18-35 years old) with a childhood diagnosis of autism spectrum disorder self-reported on their average sleep behaviors during the past week and depressive symptoms on the Beck Depressive Inventory-II. A significant proportion (86.01%) of autistic young adults experienced at least one of the primary sleep disturbances of interest, including short total sleep time (39.59%), poor sleep efficiency (60.07%), and delayed sleep phase (36.18%). Additionally, lower sleep efficiency and delayed sleep phase were both associated with higher depressive symptoms. The associations between sleep and depressive symptoms identified in our study suggest that sleep treatments may hold potential for ameliorating depressive symptoms in autistic adults who also experience sleep problems. Further research using daily sleep diaries and objective measures of sleep behaviors, as well as longitudinal studies, are needed to understand how changes in sleep may relate to changes in depressive symptoms in autistic adults. LAY SUMMARY: Studies in the general population show that sleep disturbances may have a negative effect on mood. However, this relationship has not been sufficiently studied in autistic adults. More than 80% of autistic young adults in the study sample had sleep disturbances. Adults with certain sleep disturbances reported more depressive symptoms. Understanding the associations between sleep disturbances and depression in autistic adults may offer new avenues for mental health treatments in this population.

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182. Landes SD, Finan JM, Turk MA. COVID-19 mortality burden and comorbidity patterns among decedents with and without intellectual and developmental disability in the US. Disabil Health J;2022 (Sep 7):101376.

BACKGROUND: While there is ample evidence of increased COVID-19 mortality risk among people with intellectual and developmental disability (IDD), research has not documented whether this higher risk resulted in increased COVID-19 mortality burden in the US or whether comorbidity patterns among COVID-19 deaths are similar or distinct for people with IDD. OBJECTIVE: To determine the differences in COVID-19 mortality burden between decedents with and without IDD during the first year of the pandemic. METHODS: This study uses 2020 US death certificate data to compare COVID-19 mortality burden and comorbidity patterns among decedents with and without IDD. RESULTS: COVID-19 was the leading cause of death among decedents with IDD in 2020, compared with the 3rd leading cause among decedents without IDD. The proportion of deaths from COVID-19 was also higher for decedents with compared to without IDD. Comorbidities resulting from COVID-19 were similar among decedents with and without IDD, but there were some differences among reported pre-existing conditions, notably higher rates of hypothyroidism and seizures among decedents with IDD. CONCLUSION: The COVID-19 mortality burden was greater for people with than without IDD during the first year of the pandemic. The continued practice of postmortem diagnostic overshadowing prevents analyzing whether this difference continues through today. Action is needed by the Centers for Disease Control and Prevention to mitigate this data inequity. Out of an abundance of caution, medical providers should carefully monitor symptoms among COVID-19 patients with IDD diagnosed with hypothyroidism and/or seizures.

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183. Laroui A, Galarneau L, Abolghasemi A, Benachenhou S, Plantefève R, Bouchouirab FZ, Lepage JF, Corbin F, Çaku A. Clinical significance of matrix metalloproteinase-9 in Fragile X Syndrome. Sci Rep;2022 (Sep 13);12(1):15386.

High plasma matrix metalloproteases-9 (MMP-9) levels have been reported in Fragile X Syndrome in a limited number of animal and human studies. Since the results obtained are method-dependent and not directly comparable, the clinical utility of MMP-9 measurement in FXS remains unclear. This study aimed to compare quantitative gel zymography and ELISA and to determine which method better discriminates abnormal MMP-9 levels of individuals with FXS from healthy controls and correlates with the clinical profile. The active and total forms of MMP-9 were quantified respectively, by gel zymography and ELISA in a cohort of FXS (n = 23) and healthy controls (n = 20). The clinical profile was assessed for the FXS group using the Aberrant Behavior Checklist FXS adapted version (ABC-C(FX)), Adaptive Behavior Assessment System (ABAS), Social Communication Questionnaire (SCQ), and Anxiety Depression and Mood Scale questionnaires. Method comparison showed a disagreement between gel zymography and ELISA with a constant error of - 0.18 [95% CI: - 0.35 to - 0.02] and a proportional error of 2.31 [95% CI: 1.53 to 3.24]. Plasma level of MMP-9 active form was significantly higher in FXS (n = 12) as compared to their age-sex and BMI matched controls (n = 12) (p = 0.039) and correlated with ABC-C(FX) (r(s) = 0.60; p = 0.039) and ADAMS (r(s) = 0.57; p = 0.043) scores. As compared to the plasma total form, the plasma MMP-9 active form better enables the discrimination of individuals with FXS from controls and correlates with the clinical profile. Our results highlight the importance of choosing the appropriate method to quantify plasma MMP-9 in future FXS clinical studies.

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184. László K, Vörös D, Kiss O, László BR, Ollmann T, Péczely L, Mintál K, Tóth A, Kovács A, Zagoracz O, Kertes E, Kállai V, Berta B, Karádi Z, Lénárd L. The Role of Intraamygdaloid Oxytocin and D2 Dopamine Receptors in Reinforcement in the Valproate-Induced Autism Rat Model. Biomedicines;2022 (Sep 16);10(9)

BACKGROUND: autism spectrum disorder (ASD) is a neurodevelopmental disorder affecting around 1 out of 68 children and its incidence shows an increasing tendency. There is currently no effective treatment for ASD. In autism research, the valproate (VPA)-induced autism rodent model is widely accepted. Our previous results showed that intraamygdaloid oxytocin (OT) has anxiolytic effects on rats showing autistic signs under the VPA-induced autism model. METHODS: rats were stereotaxically implanted with guide cannulae bilaterally and received intraamygdaloid microinjections. In the present study, we investigated the possible role of intraamygdaloid OT and D2 dopamine (DA) receptors on reinforcement using VPA-treated rats in a conditioned place preference test. OT and/or an OT receptor antagonist or a D2 DA antagonist were microinjected into the central nucleus of the amygdala (CeA). RESULTS: valproate-treated rats receiving 10 ng OT spent significantly longer time in the treatment quadrant during the test session of the conditioned place preference test. Prior treatment with an OT receptor antagonist or with a D2 DA receptor antagonist blocked the positive reinforcing effects of OT. The OT receptor antagonist or D2 DA antagonist in themselves did not influence the time rats spent in the treatment quadrant. CONCLUSIONS: Our results show that OT has positive reinforcing effects under the VPA-induced autism rodent model and these effects are OT receptor-specific. Our data also suggest that the DAergic system plays a role in the positive reinforcing effects of OT because the D2 DA receptor antagonist can block these actions.

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185. Lee CE, Hagiwara M, Chiu CY, Takishima M. Caregiving and future planning perspectives of siblings of individuals with intellectual and developmental disabilities: Insights from South Korea, Japan and Taiwan. J Appl Res Intellect Disabil;2022 (Sep 24)

BACKGROUND: As individuals with intellectual and developmental disabilities age, their siblings are more likely to assume caregiving responsibilities. However, little is known about experiences of East Asian siblings with respect to their caregiving and future-planning within their own country, as well as other East Asian countries. METHODS: Using a national survey, this study explored experiences of 576 siblings across South Korea, Japan and Taiwan. RESULTS: A common factor across the three countries was that siblings were less engaged in advocacy and future-planning activities and felt less competent to play the role of caregiving. Korean siblings reported more negative views about disability, while Japanese siblings reported less engagement in future-planning and Taiwanese siblings reported greater involvement in caregiving. CONCLUSION: Based on ‘universalism without uniformity’, it is recommended to develop culturally sensitive sibling-targeted intervention based on each country’s context.

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186. Lee IH, Koelliker E, Kong SW. Quantitative trait locus analysis for endophenotypes reveals genetic substrates of core symptom domains and neurocognitive function in autism spectrum disorder. Transl Psychiatry;2022 (Sep 24);12(1):407.

Autism spectrum disorder (ASD) represents a heterogeneous group of neurodevelopmental disorders and is largely attributable to genetic risk factors. Phenotypic and genetic heterogeneity of ASD have been well-recognized; however, genetic substrates for endophenotypes that constitute phenotypic heterogeneity are not yet known. In the present study, we compiled data from the Autism Genetic Resource Exchange, which contains the demographic and detailed phenotype information of 11,961 individuals. Notably, the whole-genome sequencing data available from MSSNG and iHART for 3833 individuals in this dataset was used to perform an endophenotype-wide association study. Using a linear mixed model, genome-wide association analyses were performed for 29 endophenotype scores and 0.58 million common variants with variant allele frequency ≥ 5%. We discovered significant associations between 9 genetic variants and 6 endophenotype scores comprising neurocognitive development and severity scores for core symptoms of ASD at a significance threshold of p < 5 × 10(-7). Of note, the Stereotyped Behaviors and Restricted Interests total score in Autism Diagnostic Observation Schedule Module 3 was significantly associated with multiple variants in the VPS13B gene, a causal gene for Cohen syndrome and a candidate gene for syndromic ASD. Our findings yielded loci with small effect sizes due to the moderate sample size and, thus, require validation in another cohort. Nonetheless, our endophenotype-wide association analysis extends previous candidate gene discovery in the context of genotype and endophenotype association. As a result, these candidate genes may be responsible for specific traits that constitute core symptoms and neurocognitive function of ASD rather than the disorder itself.

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187. Lee J, Gao M, Lee C. Gendered racial disparities in health of parents with children with developmental disabilities. Front Psychol;2022;13:926655.

BACKGROUND: There is little information on (1) how adverse experiences in early life are associated with the risk of having a child with health problems and (2) whether the health of racial and gender minority groups would be particularly compromised if they have developmentally disabled (DD) children. OBJECTIVE: By integrating life-course perspectives and the intersectionality framework, we examine (1) the extent to which parents’ early-life adversities (ELAs) are associated with having children with DD or other health issues and (2) whether the association between having DD children and parental (physical and mental) health varies across race-gender groups after accounting for ELAs. METHODS: Using data from Black and White parents from the Midlife in the US Study (n = 7,425; 18% Black), we employed (1) multinomial logistic regression models to investigate the degree to which ELAs are associated with parenting types (having a child with DD, a child with recent illness, or a child without these health issues) and (2) multiple regression models with a three-way interaction term to investigate whether the gender-parenting type association differs by race. RESULTS: With more adversities, the probability of having children with health issues increases for all race-gender groups, but most dramatically for Black women. Having DD children is associated with more chronic illnesses and functional limitations for women than men, with the largest burden for Black women, yet neither gender nor racial differences in depressive symptoms. Our results highlight that while raising children with DD takes a toll on the health of all parents, the strain might be larger for Black mothers. CONCLUSION: The adverse effects of parenting a child with DD is more pronounced for Black women than for other race-gender groups indicating opportunities to promote community-based programs for these parents.

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188. Lee JK, Cho ACB, Andrews DS, Ozonoff S, Rogers SJ, Amaral DG, Solomon M, Nordahl CW. Default mode and fronto-parietal network associations with IQ development across childhood in autism. J Neurodev Disord;2022 (Sep 15);14(1):51.

BACKGROUND: Intellectual disability affects approximately one third of individuals with autism spectrum disorder (autism). Yet, a major unresolved neurobiological question is what differentiates autistic individuals with and without intellectual disability. Intelligence quotients (IQs) are highly variable during childhood. We previously identified three subgroups of autistic children with different trajectories of intellectual development from early (2-3½ years) to middle childhood (9-12 years): (a) persistently high: individuals whose IQs remained in the normal range; (b) persistently low: individuals whose IQs remained in the range of intellectual disability (IQ < 70); and (c) changers: individuals whose IQs began in the range of intellectual disability but increased to the normal IQ range. The frontoparietal (FPN) and default mode (DMN) networks have established links to intellectual functioning. Here, we tested whether brain regions within the FPN and DMN differed volumetrically between these IQ trajectory groups in early childhood. METHODS: We conducted multivariate distance matrix regression to examine the brain regions within the FPN (11 regions x 2 hemispheres) and the DMN (12 regions x 2 hemispheres) in 48 persistently high (18 female), 108 persistently low (32 female), and 109 changers (39 female) using structural MRI acquired at baseline. FPN and DMN regions were defined using networks identified in Smith et al. (Proc Natl Acad Sci U S A 106:13040-5, 2009). IQ trajectory groups were defined by IQ measurements from up to three time points spanning early to middle childhood (mean age time 1: 3.2 years; time 2: 5.4 years; time 3: 11.3 years). RESULTS: The changers group exhibited volumetric differences in the DMN compared to both the persistently low and persistently high groups at time 1. However, the persistently high group did not differ from the persistently low group, suggesting that DMN structure may be an early predictor for change in IQ trajectory. In contrast, the persistently high group exhibited differences in the FPN compared to both the persistently low and changers groups, suggesting differences related more to concurrent IQ and the absence of intellectual disability. CONCLUSIONS: Within autism, volumetric differences of brain regions within the DMN in early childhood may differentiate individuals with persistently low IQ from those with low IQ that improves through childhood. Structural differences in brain networks between these three IQ-based subgroups highlight distinct neural underpinnings of these autism sub-phenotypes.

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189. Lee JYS, Whittingham K, Mitchell AE. Childhood experiences of being parented, adult attachment, psychological inflexibility, social engagement, and mental health of autistic adults. Res Dev Disabil;2022 (Nov);130:104343.

BACKGROUND: Autistic adults have an increased risk of poor mental health. Although parental care and overprotection in childhood influence later attachment and mental health in the general adult population, this has not been investigated in the autistic population. Likewise, the roles of psychological inflexibility and social engagement in influencing mental health outcomes for autistic adults have yet to be examined. AIMS: To examine if retrospectively recalled childhood experiences of parental care and overprotection, as well as current adult attachment, psychological inflexibility and social engagement are associated with mental health in autistic adulthood. Further, to examine mediators of the association between parental care and overprotection and mental health in autistic adults. METHODS AND PROCEDURES: A community-recruited convenience sample of 126 Australian autistic adults completed an online survey assessing childhood experiences of parental care and overprotection and current adult attachment, psychological inflexibility, social engagement, and mental health. OUTCOMES AND RESULTS: Linear regressions showed that psychological inflexibility was the strongest predictor of depression, anxiety, and stress, followed by attachment anxiety (depression, anxiety) and attachment avoidance (anxiety, stress). Mediation analyses revealed that psychological inflexibility and attachment anxiety mediated the associations between parental care and overprotection and mental health outcomes in autistic adulthood. CONCLUSIONS AND IMPLICATIONS: Psychological inflexibility and adult attachment (anxious and avoidant attachment) are important to understanding mental health of autistic adults. Psychological inflexibility and attachment anxiety mediate associations between recalled childhood experiences of parental care and overprotection and mental health in autistic adulthood.

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190. Lee T, Lee H, Kim S, Park KJ, An JY, Kim HW. Brief Report: Risk Variants Could Inform Early Neurodevelopmental Outcome in Children with Developmental Disabilities. J Autism Dev Disord;2022 (Sep 7)

The aim of this study was to examine genetic variations underlying the early neurodevelopmental outcome of developmental disabilities (DDs). The study cohort consisted of 191 children with DDs. Diagnosis was assessed at baseline and at the index age (72-84 months). Exome sequencing was conducted and putative risk variants were identified. According to the diagnostic improvement, children were categorized into the improvement group (n = 19) and the non-improvement group (n = 172). Compared to the non-improvement group, the improvement group had lower number of risk variants in known DD genes and haploinsufficient genes, and lower number of overall putative risk variants. Our results may serve as a preliminary basis for developing a model that informs clinical outcome by sequencing analysis.

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191. Lewis S, DePass A, Hagerman RJ, Lozano R. Case Reports of Aortic Aneurism in Fragile X Syndrome. Genes (Basel);2022 (Aug 30);13(9)

Fragile X syndrome (FXS) is an inherited genetic condition that is the leading known cause of inherited intellectual developmental disability. Phenotypically, individuals with FXS also present with distinct physical features including, elongated face, prominent ears, pectus excavatum, macroorchidism, and joint laxity, which suggests connective tissue dysplasia. In addition to mitral valve prolapse, aortic dilatation has been identified within individuals with FXS. Abnormal elastin fiber networks have been found in the skin, valves, and aorta in individual cases. Aortic dilatation has been described in other connective tissue disorders, particularly Marfan syndrome. However, while aortic aneurysms are characteristic of Marfan syndrome, no similar cases have been reported in FXS patients to date. This case report details the presentation of two patients with FXS and aortic aneurysm. Our two cases highlight the risks of aortic pathology in FXS, and the need for monitoring in asymptomatic patients with significant aortic dilatation.

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192. Li B, Xu Y, Pang D, Zhao Q, Zhang L, Li M, Li W, Duan G, Zhu C. Interrelation between homocysteine metabolism and the development of autism spectrum disorder in children. Front Mol Neurosci;2022;15:947513.

Evidence is emerging that dysregulation of circulating concentrations of homocysteine, an important intermediate in folate and vitamin B12 metabolism, is associated with autism spectrum disorder (ASD), but comprehensive assessments and correlations with disease characteristics have not been reported. Multivariate ordinal regression and restricted cubic spline (RCS) models were used to estimate independent correlations between serum homocysteine, folate, and vitamin B12 levels and clinical outcomes and severity of children with ASD. After adjusting for confounding factors, serum homocysteine levels were significantly higher in children with ASD than in healthy controls (β: 0.370; 95% CI: 0.299~0.441, p < 0.001). Moreover, homocysteine had a good diagnostic ability for distinguishing children with ASD from healthy subjects (AUC: 0.899, p < 0.001). The RCS model indicated a positive and linear association between serum homocysteine and the risk of ASD. The lowest quartile of folate was positively associated with ASD severity (OR: 4.227, 95% CI: 1.022~17.488, p = 0.041) compared to the highest quartile, and serum folate showed a negative and linear association with ASD severity. In addition, decreased concentrations of folate and vitamin B12 were associated with poor adaptive behavior developmental quotients of the Gesell Developmental Schedules (p < 0.05). Overall, an increased homocysteine level was associated with ASD in a linear manner and is thus a novel diagnostic biomarker for ASD. Decreased concentrations of folate and vitamin B12 were associated with poor clinical profiles of children with ASD. These findings suggest that homocysteine-lowering interventions or folate and vitamin B12 supplementation might be a viable treatment strategy for ASD.

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193. Li D, Mei L, Li H, Hu C, Zhou B, Zhang K, Qiao Z, Xu X, Xu Q. Brain structural alterations in young girls with Rett syndrome: A voxel-based morphometry and tract-based spatial statistics study. Front Neuroinform;2022;16:962197.

Rett syndrome (RTT) is a neurodevelopmental disorder caused by loss-of-function variants in the MECP2 gene, currently with no cure. Neuroimaging is an important tool for obtaining non-invasive structural and functional information about the in vivo brain. Multiple approaches to magnetic resonance imaging (MRI) scans have been utilized effectively in RTT patients to understand the possible pathological basis. This study combined developmental evaluations with clinical severity, T1-weighted imaging, and diffusion tensor imaging, aiming to explore the structural alterations in cohorts of young girls with RTT, idiopathic autism spectrum disorder (ASD), or typical development. Voxel-based morphometry (VBM) was used to determine the voxel-wised volumetric characteristics of gray matter, while tract-based spatial statistics (SPSS) was used to obtain voxel-wised properties of white matter. Finally, a correlation analysis between the brain structural alterations and the clinical evaluations was performed. In the RTT group, VBM revealed decreased gray matter volume in the insula, frontal cortex, calcarine, and limbic/paralimbic regions; TBSS demonstrated decreased fractional anisotropy (FA) and increased mean diffusivity (MD) mainly in the corpus callosum and other projection and association fibers such as superior longitudinal fasciculus and corona radiata. The social impairment quotient and clinical severity were associated with these morphometric alterations. This monogenic study with an early stage of RTT may provide some valuable guidance for understanding the disease pathogenesis. At the same time, the pediatric-adjusted analytic pipelines for VBM and TBSS were introduced for significant improvement over classical approaches for MRI scans in children.

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194. Li F, Xu M, Wu D, Tang Y, Zhang L, Liu X, Zhou L, Jiang L. From child social impairment to parenting stress in mothers of children with ASD: The role of parental self-efficacy and social support. Front Psychiatry;2022;13:1005748.

OBJECTIVES: Children with autism spectrum disorder (ASD) can exhibit persistent deficits in social communication, causing their mothers to experience elevated parenting stress during the childrearing process. Some internal and external psychosocial resources may mediate or moderate the mother-child relationship, though the underlying mechanisms remain unclear. This study aimed to explore the predictors of parenting stress in mothers of children with ASD and elucidate the mechanisms underlying the relationship between child social impairment and parenting stress. METHODS: A cross-sectional study was conducted between October 2020 and March 2022 in Shanghai, China. Mothers of children with ASD completed a survey investigating child social impairment, parenting stress, parental self-efficacy, and social support. RESULTS: A total of 185 mothers of children with ASD were included in the final analysis. 70.27 percent of mothers experienced a clinically significant level of parenting stress. Child social impairment (r = 0.46, P < 0.001), parental self-efficacy (r = -0.58, P < 0.001), and social support (r = -0.35, P < 0.001) were significantly correlated with parenting stress. Parental self-efficacy completely mediated the relationship between child social impairment and parenting stress (B = 0.51, P < 0.001), after controlling for socioeconomic status (SES) correlated with parenting stress. There was no significant moderating effect of social support between child social impairment and parenting stress (B = 0.01, P = 0.09). CONCLUSION: Future early intervention programs that focused on child's social communication skills and empowered mothers with related strategies through group-based parent training programs may help reduce parenting stress.

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195. Li JC, Tsai SJ, Chen TJ, Chen MH. Sexually Transmitted Infection Among Adolescents and Young Adults with Autism Spectrum Disorder: A Nationwide Longitudinal Study. J Autism Dev Disord;2022 (Sep 8)

The association between autism spectrum disorder (ASD) and subsequent sexually transmitted infections (STIs) and the potential effects of medications on STI risk remain unknown. In all, 5076 adolescents and young adults with ASD and 57,060 age-/sex-matched individuals without ASD were enrolled between 2001 and 2009 and followed-up to the end of 2011 for identification of subsequent STIs. The results revealed that patients with ASD were prone to acquiring an STI [hazard ratio (HR) 3.36] compared with the comparison group. Long-term use of atypical antipsychotics was associated with a lower risk of acquiring an STI later in life compared with nonuse (HR 0.34). We recommend that clinicians closely monitor risky sexual behaviors and STI risk in patients with ASD.

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196. Li L, Li H, Zhao Z, Xu S. Comprehensive Intervention and Effect of Martial Arts Routines on Children with Autism. J Environ Public Health;2022;2022:9350841.

Autism in children is a representative disease of pervasive developmental disorder, and there is currently no matching treatment. In the course of treatment, people generally use special education training, but this training mode cannot meet the comprehensive development of children. The traditional treatment mode cannot meet the changing new situation due to its poor adaptability. Martial arts routine movements are the soul of martial arts training, which can lay the foundation for movement training. Based on this, this article takes children with autism as research objects and aims to analyze the comprehensive intervention effect of martial arts routines on autism so as to provide some references for the treatment of children with autism. The article first analyzes the intervention forms of martial arts routine movements and realizes the combination of martial arts routine movements and children’s autism intervention treatment from a theoretical point of view. Then, the article randomly divides the experimental subjects into the experimental group and the control group and conducts an evaluation and analysis of various indicators before and after the training of children with autism. Finally, the article falls back from the experimental results to related theories, aiming to provide a scientific basis for the comprehensive intervention treatment of children with autism. The experimental results showed that the scale evaluation results of the experimental group are different from those of the control group, and various indicators have been improved and improved, including language, perception, and social skills. Among them, the language and behavior of children with autism increased by 19.1%. The perception ability increased by 20.7%, and the social ability increased by 5.9%. The above experiments and analysis fully demonstrated that martial arts routines have a good effect in the intervention and treatment of children with autism, which can well improve the comprehensive quality of patients.

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197. Li Y, Fan T, Li X, Liu L, Mao F, Miao Z, Zeng C, Song W, Pan J, Zhou S, Wang H, Wang Y, Sun ZS. Npas3 deficiency impairs cortical astrogenesis and induces autistic-like behaviors. Cell Rep;2022 (Aug 30);40(9):111289.

Transcription factors with basic-helix-loop-helix (bHLH) motifs can control neural progenitor fate determination to neurons and oligodendrocytes. How bHLH transcription factors regulate astrogenesis remains largely unknown. Here, we report that NPAS3, a bHLH transcription factor, is a critical regulator of astrogenesis. Npas3 deficiency impairs cortical astrogenesis, correlating with abnormal brain development and autistic-like behaviors. Single-cell transcriptomes reveal that Npas3 knockout induces abnormal transition states in the differentiation trajectories from radial glia to astrocytes. Analysis of chromatin immunoprecipitation sequencing data in primary cortical astrocytes shows that NPAS3 binding targets are involved in functions of brain development and synapse organization. Co-culture assay further indicates that NPAS3-impaired astrogenesis induces synaptic deficits in wild-type neurons. Astrocyte-specific knockdown of NPAS3 in wild-type cortex causes synaptic and behavioral abnormalities associated with the core symptoms in autism. Together, our findings suggest that transcription factor NPAS3 regulates astrogenesis and its subsequent consequences for brain development and behavior.

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198. Liang L, Dong G, Li C, Wen D, Zhao Y, Li J. Improving Autism Spectrum Disorder Prediction by Fusion of Multiple Measures of Resting-State Functional MRI Data. Annu Int Conf IEEE Eng Med Biol Soc;2022 (Jul);2022:1851-1854.

Autism spectrum disorder (ASD) is a lifelong neurodevelopmental condition characterized by social communication, language and behavior impairments. Leveraging deep learning to automatically predict ASD has attracted more and more attention in the medical and machine learning communities. However, how to select effective measure signals for deep learning prediction is still a challenging problem. In this paper, we studied two kinds of measure signals, i.e., regional homogeneity (ReHo) and Craddock 200 (CC200), which both represents homogeneous functional activity, in the framework of deep learning, and designed a new mechanism to effectively joint them for deep learning based ASD prediction. Extensive experiments on the ABIDE dataset provide empirical evidence in support of effectiveness of our method. In particular, we obtained 79% in terms of accuracy by effectively fusing these two kinds of signals, much better than any single-measure model (ReHo SM-model: ∼69% and CC200 SM-model: ∼70%). These results suggest that leveraging multi-measure signals together are effective for ASD prediction.

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199. Liang Q, Liu Y, Duan R, Meng W, Zhan J, Xia J, Mao A, Liang D, Wu L. Comprehensive Analysis of Fragile X Syndrome: Full Characterization of the FMR1 Locus by Long-Read Sequencing. Clin Chem;2022 (Sep 29)

BACKGROUND: Fragile X syndrome (FXS) is the most frequent cause of inherited X-linked intellectual disability. Conventional FXS genetic testing methods mainly focus on FMR1 CGG expansions and fail to identify AGG interruptions, rare intragenic variants, and large gene deletions. METHODS: A long-range PCR and long-read sequencing-based assay termed comprehensive analysis of FXS (CAFXS) was developed and evaluated in Coriell and clinical samples by comparing to Southern blot analysis and triplet repeat-primed PCR (TP-PCR). RESULTS: CAFXS accurately detected the number of CGG repeats in the range of 93 to at least 940 with mass fraction of 0.5% to 1% in the background of normal alleles, which was 2-4-fold analytically more sensitive than TP-PCR. All categories of mutations detected by control methods, including full mutations in 30 samples, were identified by CAFXS for all 62 clinical samples. CAFXS accurately determined AGG interruptions in all 133 alleles identified, even in mosaic alleles. CAFXS successfully identified 2 rare intragenic variants including the c.879A > C variant in exon 9 and a 697-bp microdeletion flanking upstream of CGG repeats, which disrupted primer annealing in TP-PCR assay. In addition, CAFXS directly determined the breakpoints of a 237.1-kb deletion and a 774.0-kb deletion encompassing the entire FMR1 gene in 2 samples. CONCLUSIONS: Long-read sequencing-based CAFXS represents a comprehensive assay for identifying FMR1 CGG expansions, AGG interruptions, rare intragenic variants, and large gene deletions, which greatly improves the genetic screening and diagnosis for FXS.

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200. Licari MK, Alvares GA, Reynolds JE, Uljaveric M. Motor impairment should be a « Specifier » for autism spectrum disorder. Autism Res;2022 (Sep 21)

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201. Lim JM, Letchumanan V, Tan LT, Hong KW, Wong SH, Ab Mutalib NS, Lee LH, Law JW. Ketogenic Diet: A Dietary Intervention via Gut Microbiome Modulation for the Treatment of Neurological and Nutritional Disorders (a Narrative Review). Nutrients;2022 (Aug 30);14(17)

The ketogenic diet (KD) has been important in treating epilepsy since the 1920s. The benefits of KD further expanded to other neurological diseases, including Alzheimer’s diseases, autism spectrum disorder, and nutritional disorder (obesity). Although the therapeutic efficacy of KD has been generally accepted, there is limited knowledge about its underlying mechanism of action, particularly its effect on our gut microbiome. Gut dysbiosis has been proposed to be involved in those diseases, and KD can promote gut microbiota remodeling that may assist in recovery. This review explores the therapeutic applications of KD, the roles of the gut microbiome in neurological diseases and obesity, as well as the effect of KD on the gut microbiome. The present information suggests that KD has significant roles in altering the gut microbiome to improve disease symptoms, mainly by incrementing Bacteroidetes to Firmicutes (B/F) ratio and reducing Proteobacteria in certain cases. However, current gaps call for continued research to understand better the gut microbiota profile altered by KD.

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202. Lim M, Carollo A, Dimitriou D, Esposito G. Recent Developments in Autism Genetic Research: A Scientometric Review from 2018 to 2022. Genes (Basel);2022 (Sep 14);13(9)

Genetic research in Autism Spectrum Disorder (ASD) has progressed tremendously in recent decades. Dozens of genetic loci and hundreds of alterations in the genetic sequence, expression, epigenetic transformation, and interactions with other physiological and environmental systems have been found to increase the likelihood of developing ASD. There is therefore a need to represent this wide-ranging yet voluminous body of literature in a systematic manner so that this information can be synthesised and understood at a macro level. Therefore, this study made use of scientometric methods, particularly document co-citation analysis (DCA), to systematically review literature on ASD genetic research from 2018 to 2022. A total of 14,818 articles were extracted from Scopus and analyzed with CiteSpace. An optimized DCA analysis revealed that recent literature on ASD genetic research can be broadly organised into 12 major clusters representing various sub-topics. These clusters are briefly described in the manuscript and potential applications of this study are discussed.

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203. Lin X, Zhou R, Liang D, Xia L, Zeng L, Chen X. The role of microbiota in autism spectrum disorder: A bibliometric analysis based on original articles. Front Psychiatry;2022;13:976827.

BACKGROUND: Gastrointestinal (GI) symptoms can be observed in autism spectrum disorder (ASD) children. It is suggested that the gut microbiota and its metabolites are associated, not only with GI symptoms, but also with behaviors of ASD. The aim of this study was to explore the development context, research hotspots and frontiers of gut microbiota and ASD from January 1, 1980 to April 1, 2022 by bibliometric analysis. MATERIALS AND METHODS: Publications of ASD and gut microbiota research from 1 January 1980 to 1 April 2022 were retrieved from the Web of Science Core Collection (WoSCC). Publications and citations trends were analyzed by Excel 2010. CiteSpace was used to analyze countries/regions, authors, institutes, references, and keywords and to visualize the knowledge map. RESULTS: A total of 1027 studies were retrieved, and 266 original articles were included after screening. The most published countries and institutes were the United States and King Saud University. Afaf El-Aansary published the most articles, while Finegold SM had the highest co-citations. Hotspots and emerging trends in this area may be indicated by co-cited references and keywords and their clusters, including « gut-brain axis, » « behavior, » « chain fatty acid, » « brain, » « feces, » « propionic acid, » « clostridium perfringens, » and « species clostridium innocuum. » CONCLUSION: The United States dominants the research in this field, which focuses on the alterations of gut microbiota composition and its metabolites, among which the roles of the genus Clostridium and metabolites of short-chain fatty acids, especially propionic acid, are priorities. Fecal microbiota transplantation (FMT) is a promising complementary therapy. In general, research in this area is sparse, but it still has great research prospects.

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204. Lisøy RS, Pfuhl G, Sunde HF, Biegler R. Sweet spot in music-Is predictability preferred among persons with psychotic-like experiences or autistic traits?. PLoS One;2022;17(9):e0275308.

People prefer music with an intermediate level of predictability; not so predictable as to be boring, yet not so unpredictable that it ceases to be music. This sweet spot for predictability varies due to differences in the perception of predictability. The symptoms of both psychosis and Autism Spectrum Disorder have been attributed to overestimation of uncertainty, which predicts a preference for predictable stimuli and environments. In a pre-registered study, we tested this prediction by investigating whether psychotic and autistic traits were associated with a higher preference for predictability in music. Participants from the general population were presented with twenty-nine pre-composed music excerpts, scored on their complexity by musical experts. A participant’s preferred level of predictability corresponded to the peak of the inverted U-shaped curve between music complexity and liking (i.e., a Wundt curve). We found that the sweet spot for predictability did indeed vary between individuals. Contrary to predictions, we did not find support for these variations being associated with autistic and psychotic traits. The findings are discussed in the context of the Wundt curve and the use of naturalistic stimuli. We also provide recommendations for further exploration.

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205. Liu H, Ding L, Qu G, Guo X, Liang M, Ma S, Sun Y. Particulate matter exposure during pregnancy and infancy and risks of autism spectrum disorder in children: A systematic review and meta-analysis. Sci Total Environ;2022 (Sep 20):158830.

PURPOSE: This meta-analysis aimed to clarify the relationship between particulate matter (PM) and autism spectrum disorder (ASD) in detail. METHODS: A systematic literature search was performed using eight databases before April 9, 2022. The estimated effects were combined separately according to the PM type. Subgroup analyses were conducted in terms of the study design type, study location, exposure window, birth year, and sex. RESULTS: PM(2.5) was associated with an increased risk of ASD, while PM(10) was not. PMc, PM(1), and diesel particulate matter (DPM) were also associated with an increased risk of ASD. Specifically, a 10 μg/m(3) increase in PM(2.5) was associated with a 1.337-fold increased risk of ASD in children, and a 10 μg/m(3) increase in PMc and PM(1) may increase the risk of ASD by 1.062 and 3.643 times, respectively. PM(2.5) exposure may increase the risk of ASD in boys. Exposure to PMc might increase the risk of ASD in children born after the year 2000. The combined results of different PM differed between studies with continuous and non-continuous data for different study design type, study location, and birth year. The sensitive window for PM(2.5) exposure to increase the risk of ASD may be from the first, second, and third trimesters to the first year of the postnatal period. Exposure to PMc during pregnancy was significantly associated with ASD. CONCLUSION: Exposure to PM(2.5) may increase the risk of ASD in boys. Exposure to PM(2.5) during the first, second, and third trimesters and postnatally increased the risk of ASD.

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206. Liu XY, To SM. Narrative analysis of parents’ experiences with participating in the intervention of children on the autism spectrum in mainland China. Disabil Rehabil;2022 (Sep 8):1-9.

PURPOSE: Although the challenges encountered by parents of children on the autism spectrum during the intervention process have garnered scholarly attention, how parents subjectively review those challenges and construct meanings of their experiences remained underexamined. By applying the narrative analysis framework, we investigated the lived experiences of parents of children on the autism spectrum regarding challenges they faced in the intervention process, along with the meanings of those experiences that they constructed in the sociocultural context of mainland China. METHODS: We purposively sampled 16 parents to narrate their experiences following semistructured interviews. Each participant had one child who had participated in autism intervention for more than two years. RESULT: The narrative analysis revealed that parents experienced a series of challenges imposed by structural barriers in the intervention process, which resulted in psychological distress and negative perceptions of their parental identities. Albeit susceptible to those adversities, the parents actively constructed new meanings of parenthood and their children’s situations through reflexive dialogues. CONCLUSION: Our results indicate the essential role of meaning-oriented coping in helping parents with children on the autism spectrum to mitigate the negative influence of challenges on their parental identity, strengthen their parent-child relationships, and readjust their priorities for intervention.IMPLICATIONS FOR REHABILITATIONThe role of encouraging new meanings through reflexive dialogues was found to be particularly important among parents with children on the autism spectrum to cope with the challenges they faced in the intervention process.New meanings assigned can mitigate the negative impact of challenges on parents’ parental identity, strengthening their parent-child relationships, and readjusting their priorities for intervention within the Chinese socio-cultural context.It is crucial for social workers and other practitioners to support parents in mainland China by facilitating them to assign new meanings to the challenging situations.It is important for social workers and other practitioners to encourage parents to cultivate inner strengths and self-value to support their children on the autism spectrum.

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207. London E, Jure R, Gaspar P, Puelles L, Kulesza RJ. Editorial: The role of the brainstem and cerebellum in autism and related neurodevelopmental disorders (DD). Front Integr Neurosci;2022;16:957003.

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208. López-Nieto L, Compañ-Gabucio LM, Torres-Collado L, Garcia-de la Hera M. Scoping Review on Play-Based Interventions in Autism Spectrum Disorder. Children (Basel);2022 (Sep 5);9(9)

Play as a therapeutic strategy can help to improve daily functioning in children and adolescents with autism spectrum disorder (ASD). Play-based intervention can thus be an optimal option for treatment of this population. Our aim was to describe play-based interventions used in children and adolescents with ASD. We conducted a scoping review. A peer-reviewed literature search was conducted on PubMed, Scopus, EMBASE, Web of Science and PsycINFO databases. We included experimental studies which analyzed play-based interventions in children and adolescents with ASD, which were published in English/Spanish with full text available. We used three tables elaborated a priori to perform data extraction by two authors. Fifteen studies were included, mostly conducted in Australia and published during the past 10 years. Play-based intervention was categorized into three groups: new technologies, symbolic play or official techniques. Interventions lasted approximately 11 weeks, contained one weekly session of 30-60 min and were delivered by parents and teachers. Play-based interventions using new technologies were the most used. Intervention duration and number of sessions varied between articles. Further studies are needed to create play-based intervention protocols which can be implemented in clinical practice with children and adolescents with ASD, thus promoting evidence-based interventions in this field.

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209. Losada-Puente L, Baña M. Assessment of Adaptive Behavior in People with Autism Spectrum Disorders through the ICAP. Behav Sci (Basel);2022 (Sep 15);12(9)

Evaluating adaptive behavior in people with Autism Spectrum Disorder (ASD) requires attending to a set of cognitive processes associated with social interaction skills and functional communication that are altered. This paper presents the analysis of an instrument to assess and diagnose adaptive behavior in people with Autism Spectrum Disorder (ASD), given the need for rigorous, standardized, and statistically reliable tools to address this dimension, incorporated into the diagnosis since 1992. The Inventory for Service Planning and Individual Programming (ICAP) was applied to n = 209 children with ASD. Its psychometric properties were studied to provide statistical criteria for its usefulness in assessing adaptive behavior. Results highlighted variations in its original structure, reducing the number of items from 77 to 60 by eliminating those with little discriminative power, and of dimensions from four to three given their greater congruence with the results of the exploratory analysis: daily life skills (α = 0.892-0.935), communication and linguistic skills (α = 0.860-0.931), and motor skills (α = 0.828-0.857). This again raises questions about the use of instruments similar in their dimensions, and about the interaction between variables and items, a frequent issue in the field of mind, social, and health sciences.

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210. Lozano R, Thompson T, Dixon-Weber J, Erickson CA, Berry-Kravis E, Williams S, Smith E, Frazier JA, Rosselot H, Farmer C, Hessl D. Observable Symptoms of Anxiety in Individuals with Fragile X Syndrome: Parent and Caregiver Perspectives. Genes (Basel);2022 (Sep 16);13(9)

Caregiver reports, clinical observations, and diagnostic assessments indicate that most individuals with fragile X syndrome experience high levels of chronic anxiety. However, anxiety is a challenging endpoint for outcome measurement in FXS because most individuals cannot reliably report internal emotional or body states. A comprehensive survey of the presence, frequency, and duration of anxiety-related symptoms and questions to elicit open-ended responses was completed by caregivers of 456 individuals with FXS, ages 2-81 years (87 female, 369 male) and 24 female and 2 male FXS self-advocates ages 15-66 years. Caregivers reported classic behavioral indicators of anxiety, such as avoidance, irritability, motor agitation, and physiological symptoms, as well as behavioral features in FXS such as repetitive behavior, aggression, and self-injury. Self-advocate accounts largely paralleled caregiver data. Factor analyses yielded four factors: (1) increased irritability, aggression, and self-injury; (2) increased physical movement, nervous activity, and restlessness; (3) physical and physiological features of anxiety; and (4) internalizing and gastrointestinal symptoms. Caregivers are capable of observing and reporting behaviors that are valid indicators of anxious states that are usually reported in self-report standardized assessments. These results support the development of an anxiety measure for FXS that minimizes problems with rater inference.

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211. Luo X, Xiong Y, Gu M, Huang L, Lu Z, Zhong X, Zou S. Reliability and validity of the repetitive behavior scale-revised for young Chinese children with autism spectrum disorder in Jiangxi Province. Front Pediatr;2022;10:939841.

Restricted and repetitive behaviors (RRBs) are one of the two main diagnostic features of autism spectrum disorder (ASD). To date, a growing body of research on RRB in children with ASD has recently attracted academic attention. The Repetitive Behavior Scale-Revised (RBS-R) was primarily intended for use in evaluating RRBs observed in ASD. This study recruited 381 Chinese children with ASD aged 2-4 years to measure the reliability and validity of the RBS-R. Confirmatory factor analysis (CFA) was applied to the structuring models of the four proposed structural models, indicating that a 6-factor model demonstrated good internal consistency and the best fit based on common overall fit indices. These findings suggest the utility of the Chinese version of RBS-R.

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212. Maertens M, Silver H, Dixon Weber J, Rosselot H, Lozano R. Parent and Caregiver Perspectives towards Cannabidiol as a Treatment for Fragile X Syndrome. Genes (Basel);2022 (Sep 6);13(9)

Cannabidiol (CBD) is a non-intoxicating chemical in cannabis plants that is being investigated as a candidate for treatment in Fragile X Syndrome (FXS), a leading known cause of inherited intellectual developmental disability. Studies have shown that CBD can reduce symptoms such as anxiety, social avoidance, hyperactivity, aggression, and sleep problems. This is a qualitative study that utilized a voluntary-anonymous survey that consisted of questions regarding demographics, medical information, the form, type, brand, dose, and frequency of CBD use, the rationale for use, the perception of effects, side effects, and costs. The full survey contained a total of 34 questions, including multiple-choice, Likert-scale, and optional free-response questions. This research revealed that there are a wide range of types, brands, and doses of CBD being administered to individuals with FXS by their parents and caregivers. There were many reasons why CBD was chosen, the most common ones being that respondents had heard positive things about CBD from members of the community, the perception that CBD had fewer side effects than other medications, and because respondents felt that CBD was a more natural substance. Most of the parents and caregivers who responded agreed that CBD improved some of the symptoms of FXS and made a positive difference overall. CBD has the therapeutic potential to help relieve some FXS symptoms. Future research is necessary to understand the benefits of CBD in FXS.

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213. Maes P, Weyland M, Kissine M. Describing (pre)linguistic oral productions in 3- to 5-year-old autistic children: A cluster analysis. Autism;2022 (Sep 7):13623613221122663.

For most autistic children, spoken language emergence and development happen after the age of 3. Once they start developing and using spoken language, some eventually manage to reach typical levels of language abilities, while others remain minimally speaking into adulthood. It is therefore difficult to consider young autistic preschoolers as a homogeneous group in terms of spoken language levels. In our study, we breakdown a representative and inclusive group of children on the spectrum aged from 3 to 5 into five subgroups that correspond to different linguistic profiles. To do so, we qualitatively described children’s (pre)verbal productions elicited during interactions with a parent and with an experimenter. We then used a type of statistical analysis called cluster analysis to group together the children that had a similar expressive (pre)linguistic behavior. Using this analysis, we were able to delineate five linguistic profiles with qualitatively different patterns of vocal production. Two of these profiles are composed of speaking children; the three others are composed of non- or minimally speaking children. Our findings show that traditional binary division of speaking versus nonspeaking autistic children is not precise enough to describe the heterogeneity of early spoken language in young autistic children. They also support the use of qualitative descriptions of vocal productions and speech to accurately document children’s level of language, which could, in turn, help design very finely tailored language intervention specific to each child.

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214. Mahajan R, Sagar R. Adequate Management of Autism Spectrum Disorder in Children in India. Indian J Pediatr;2022 (Sep 29)

Despite the significant burden of neurodevelopmental disorders such as autism spectrum disorder (ASD) in India, there are areas of unmet needs at every level of the health care system. This includes screening and recognition, reliable and valid tools to evaluate, and to adequately manage ASD. There are also gaps in education and training of medical professionals, paraprofessionals, special education teachers and the related services. Lack of public awareness and cultural factors contribute to delays in early recognition and interventions. A framework is suggested to address these unmet needs at various levels to improve the care of these children with ASD. These include a) a focus on education of medical professionals, paraprofessionals, and teachers; b) setting up infrastructure at community, regional, and statewide levels, with adequate funding; and c) use of audiovisual technology and collaboration with international expertise.

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215. Maleki M, Noorimotlagh Z, Mirzaee SA, Jaafarzadeh N, Martinez SS, Rahim F, Kaffashian M. An updated systematic review on the maternal exposure to environmental pesticides and involved mechanisms of autism spectrum disorder (ASD) progression risk in children. Rev Environ Health;2022 (Sep 21)

Autism spectrum disorder (ASD) increased dramatically over the past 25 years because of genetic and environmental factors. This systematic review (SR) aimed to determine the association between maternal exposure during pregnancy to environmental pesticides and other associations with the risk of ASD progression in children. PubMed (MEDLINE), Scopus (Elsevier) and the Institute for Scientific Information (ISI) Web of Science were searched using appropriate keywords up to March 2021. Twenty-four studies met the inclusion/exclusion criteria and were selected. Most studies reported that ASD increases the risk of offspring after prenatal exposure to environmental pesticides in pregnant mother’s residences, against offspring of women from the same region without this exposure. The main potential mechanisms inducing ASD progressions are ROS and prostaglandin E2 synthesis, AChE inhibition, voltage-gated sodium channel disruption, and GABA inhibition. According to the included studies, the highest rates of ASD diagnosis increased relative to organophosphates, and the application of the most common pesticides near residences might enhance the prevalence of ASD.

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216. Mandecka A, Regulska-Ilow B. The importance of nutritional management and education in the treatment of autism. Rocz Panstw Zakl Hig;2022;73(3):247-258.

Autism spectrum disorders (ASDs) are an early-onset neurodevelopmental disorders. The key symptoms of ASD include social deficits, verbal and non-verbal communication deficits, and restricted, repetitive patterns of behaviour, interests, or activities. Dietary patterns have been evidenced to be related to maternal nutritional status that might lead to different metabolic conditions, and maternal metabolic dysfunction has been observed to be associated with ASD. Furthermore growing evidence suggests that the gut microbiota has a role in the pathophysiology of ASD. Differences in composition of the gastrointestinal (GI) microbiota in children with ASD compared to unaffected siblings and/or healthy unrelated controls have been reported in various studies. The above-mentioned ASD factors and symptoms can be regulated by proper nutrition. The importance of nutrition and its possible impact on ASD patients is key to integral therapy. According to numerous research studies, various nutritional approaches succeeded in reducing the severity of patients’ core ASD symptoms. The numerous options for diet that is used in the ASD therapy, as described in the scientific literature, are related to the problem of choosing an appropriate nutritional treatment. Each nutrition programme needs to be personalised and tailored to an individual patient. The aim of the paper is to review the available literature on dietary interventions in children with ASD and provide up-to-date evidence.

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217. Manjur SM, Hossain MB, Constable PA, Thompson DA, Marmolejo-Ramos F, Lee IO, Skuse DH, Posada-Quintero HF. Detecting Autism Spectrum Disorder Using Spectral Analysis of Electroretinogram and Machine Learning: Preliminary results. Annu Int Conf IEEE Eng Med Biol Soc;2022 (Jul);2022:3435-3438.

Autism spectrum disorder (ASD) is a neurodevelopmental condition that impacts language, communication and social interactions. The current diagnostic process for ASD is based upon a detailed multidisciplinary assessment. Currently no clinical biomarker exists to help in the diagnosis and monitoring of this condition that has a prevalence of approximately 1%. The electroretinogram (ERG), is a clinical test that records the electrical response of the retina to light. The ERG is a promising way to study different neurodevelopmental and neurodegenerative disorders, including ASD. In this study, we have proposed a machine learning based method to detect ASD from control subjects using the ERG waveform. We collected ERG signals from 47 control (CO) and 96 ASD individuals. We analyzed ERG signals both in the time and the spectral domain to gain insight into the statistically significant discriminating features between CO and ASD individuals. We evaluated the machine learning (ML) models using a subject independent cross validation-based approach. Time-domain features were able to detect ASD with a maximum 65% accuracy. The classification accuracy of our best ML model using time-domain and spectral features was 86%, with 98% sensitivity. Our preliminary results indicate that spectral analysis of ERG provides helpful information for the classification of ASD.

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218. Marchezan J, Deckmann I, da Fonseca GC, Margis R, Riesgo R, Gottfried C. Resveratrol Treatment of Autism Spectrum Disorder-A Pilot Study. Clin Neuropharmacol;2022 (Sep-Oct 01);45(5):122-127.

OBJECTIVES: Considering autism spectrum disorder (ASD) as a neurodevelopmental condition associated with immune system impairments, we aimed to evaluate the potential benefits, efficacy, tolerability, and safety of the anti-inflammatory, antioxidant, and neuroprotective trans -resveratrol (RSV) in behavioral impairments and in a set of 8 microRNAs (miR) related to the immune system in pediatric subjects with ASD. METHODS: This is an open-label pilot trial over a 3 months (90 days) study follow-up period designed to assess the effect of 200 mg/d RSV on 5 boys aged 10 to 13 (11.8 ± 1.1) years diagnosed with ASD according to Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition . RESULTS: The RSV treatment significantly reduced the Aberrant Behavior Checklist total score ( P = 0.042) and Irritability ( P = 0.041), with no alteration in Stereotypical Behavior ( P = 0.066), Hyperactivity ( P = 0.068), and Lethargy/Social Withdrawal ( P = 0.078) subscales. On the Clinical Global Impression scale, 3 individuals showed marked improvement in behavior; one showed mild improvement, and the other had no changes. The RSV treatment increased the miR-195-5p ( P = 0.043), an important modulator of targets related to inflammatory and immunological pathways. RSV administration did not present adverse effects and did not alter clinical laboratory results. CONCLUSIONS: RSV is a safe molecule for administrating in the pediatric population, able to modulate behavior alterations and molecules associated with the immune system, becoming a promising therapeutic strategy for large-scale studies in ASD, to investigate both behavioral and molecular approaches.

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219. Maroney MR, Horne SG. « Tuned into a different channel »: Autistic transgender adults’ experiences of intersectional stigma. J Couns Psychol;2022 (Sep 1)

In this critical-constructivist grounded theory study, we interviewed 13 autistic-transgender, nonbinary, and/or gender diverse (TNG) individuals on the intersection of their autistic-TNG identities and how they resisted marginalization related to these experiences. Analysis revealed the experiences of living in a world that « doesn’t seem quite set up the right way » and situated autistic-TNG experiences in complex set of intersectional processes that require navigating relationships, health care systems, and safety challenges living in a heterosexist, cissexist, and ableist society. Participants had to constantly assess the safety and disclosure of their identities in the face of oppressive systems while claiming space and creating community that affirmed them. We conclude by highlighting the importance of taking an intersectional lens to highlight the many positive aspects of being autistic and TNG, which have been largely absent in research and clinical dialogues. We provide some suggestions for providing culturally responsive mental health and ways neurotypical and cisgender people can begin to challenge ableist and cissexist narratives in their clinical practice and research, alongside autistic-TNG people. (PsycInfo Database Record (c) 2022 APA, all rights reserved).

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220. Marston E, Cho CC, Pridham K, McPherson AC, Polfuss M. Parenting styles and dimensions in parents of children with developmental disabilities. Res Nurs Health;2022 (Oct);45(5):592-603.

Parenting influences child development. There is limited research, however, related to parenting children who have developmental disabilities. The aims of this study were to: (1) describe the parenting styles and dimensions of parents of children with developmental disabilities and (2) assess differences in parenting styles and dimensions among parents of children with autism spectrum disorder (ASD), Down syndrome (DS), and spina bifida (SB). Secondary data analysis was conducted from a nationwide cross-sectional study of 496 parents of children aged 5-16 years with ASD (n = 180), DS (n = 156), or SB (n = 160). Parent scores indicated high use of the authoritative parenting style and associated parenting dimensions, mid-to-low use of the permissive parenting style, and low use of the authoritarian parenting style and associated dimensions. Variation in parenting styles and dimensions among parents was primarily related to the child’s diagnosis and family income. An unanticipated but positive finding was that parents with lower family incomes had significantly higher scores for the authoritative parenting style. Results from this study can inform future research that might inform clinical practice.

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221. Mathew NE, Mallitt KA, Masi A, Katz T, Walker AK, Morris MJ, Ooi CY. Dietary intake in children on the autism spectrum is altered and linked to differences in autistic traits and sensory processing styles. Autism Res;2022 (Aug 26)

Diets of children and adolescents on the autism spectrum often differ when compared to their non-autistic peers. Most dietary studies have been limited by small sample sizes and rarely assess the heterogeneity of autism. Addressing this gap, this study compared the anthropometrics, dietary composition, dietary quality, and food variety of 154 Australian children and adolescents on the spectrum and 213 non-autistic children (71 siblings and 142 unrelated controls). Beyond the case-control approach, within-group comparisons assessed the influence of autism clinical presentations and sensory processing styles on body mass index (BMI) and measures of dietary intake among those on the spectrum. In this word first study of diet that included between-group comparisons with non-autistic peers (siblings and an unrelated comparison group) and within-autism group comparisons, we found that children on the spectrum consumed limited variety and lower quality of food and non-autistic siblings also ate comparably higher levels of energy-dense, nutrient poor food, and less diary. This may be due to autistic traits influencing family’s diets or shared sensory sensitivities driving dietary intake. Within the autism group, higher autistic traits were associated with lower BMIs and a specific dietary pattern higher in simple carbohydrates and lower in unprocessed protein. Contrastingly, greater sensitivity to sensory stimuli was associated with a healthier diet. Increased age was linked to more varied diets but also diets higher in saturated fats and energy-dense, nutrient poor foods. Overall, this research highlights that potential mediators of dietary intake, such as familial influences, autistic traits, sensory processing styles, age and sex, need to be considered when assessing diet in the autistic population. LAY SUMMARY: In this study of dietary differences linked to autism, children, and teenagers on the spectrum ate fewer different foods and were less likely to eat recommended amounts of fruits and vegetables when compared to non-autistic siblings and unrelated children and teenagers. There were also family differences, in that those on the spectrum and their siblings ate more unhealthy foods and less dairy. Among those on the spectrum, dietary differences were linked to age, sex, autistic traits and sensory processing styles.

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222. Matsuzaki H, Fukunaga K. Editorial: Environmental risk factors in autism spectrum disorder. Front Psychiatry;2022;13:978489.

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223. Mattheisen M, Grove J, Als TD, Martin J, Voloudakis G, Meier S, Demontis D, Bendl J, Walters R, Carey CE, Rosengren A, Strom NI, Hauberg ME, Zeng B, Hoffman G, Zhang W, Bybjerg-Grauholm J, Bækvad-Hansen M, Agerbo E, Cormand B, Nordentoft M, Werge T, Mors O, Hougaard DM, Buxbaum JD, Faraone SV, Franke B, Dalsgaard S, Mortensen PB, Robinson EB, Roussos P, Neale BM, Daly MJ, Børglum AD. Identification of shared and differentiating genetic architecture for autism spectrum disorder, attention-deficit hyperactivity disorder and case subgroups. Nat Genet;2022 (Sep 26)

Attention-deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are highly heritable neurodevelopmental conditions, with considerable overlap in their genetic etiology. We dissected their shared and distinct genetic etiology by cross-disorder analyses of large datasets. We identified seven loci shared by the disorders and five loci differentiating them. All five differentiating loci showed opposite allelic directions in the two disorders and significant associations with other traits, including educational attainment, neuroticism and regional brain volume. Integration with brain transcriptome data enabled us to identify and prioritize several significantly associated genes. The shared genomic fraction contributing to both disorders was strongly correlated with other psychiatric phenotypes, whereas the differentiating portion was correlated most strongly with cognitive traits. Additional analyses revealed that individuals diagnosed with both ASD and ADHD were double-loaded with genetic predispositions for both disorders and showed distinctive patterns of genetic association with other traits compared with the ASD-only and ADHD-only subgroups. These results provide insights into the biological foundation of the development of one or both conditions and of the factors driving psychopathology discriminatively toward either ADHD or ASD.

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224. Maurer MH, Kohler A, Hudemann M, Jüngling J, Biskup S, Menzel M. Case Report of a Juvenile Patient with Autism Spectrum Disorder with a Novel Combination of Copy Number Variants in ADGRL3 (LPHN3) and Two Pseudogenes. Appl Clin Genet;2022;15:125-131.

We report the finding of two copy number variants (CNVs) in a 12-year-old boy presenting both with autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD). Clinical features included aggressive behavior, mood instability, suicidal statements, repetitive and restrictive behavior, sensitivity to noise, learning problems and dyslexia, though no intellectual disability was present. Using array-based comparative genomic hybridization (array-CGH), we identified two CNVs, both triplex duplications of 324 kb on 3p26.3, and 284 kb on 4q13.1, respectively. One of the CNVs is located on chromosome 4q13.1 in the region of the gene encoding for adhesion G protein-coupled receptor L3 (ADGRL3, former name: latrophilin-3, LPHN3), the other on chromosome 3p26.3 in the region of the two pseudogenes AC090043.1 and RPL23AP39. The patient described in the present study showed increased symptoms under methylphenidate treatment but responded positively to 3 mg per day of the atypical neuroleptic drug aripiprazole. To our knowledge, this is the first report of a CNV in the ADGRL3 gene and its first association with ASD in humans.

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225. Mayes SD, Becker SP, Calhoun SL, Waschbusch DA. Comparison of the Cognitive Disengagement and Hypoactivity Components of Sluggish Cognitive Tempo in Autism, ADHD, and Population-Based Samples of Children. Res Child Adolesc Psychopathol;2022 (Sep 1)

An international Sluggish Cognitive Tempo (SCT) Work Group proposed a new term for SCT, « cognitive disengagement syndrome, » that more accurately describes the syndrome than does SCT. According to the Work Group, symptoms of SCT represent a cognitive dimension (cognitive disengagement) and a motor dimension (hypoactivity). Our study determined (1) if distinct factors representing cognitive disengagement and hypoactivity emerged when SCT items were factor analyzed and (2) the degree of differences in cognitive disengagement and hypoactivity within diagnostic groups. Mothers rated 1,177 children with autism, 725 with ADHD-Combined, and 307 with ADHD-Inattentive (4-17 years) and 665 elementary school children (6-12 years) on the Pediatric Behavior Scale (PBS). SCT prevalence rates were autism 32%, ADHD-Inattentive 27%, ADHD-Combined 18%, and elementary school students 7%. Factor analysis of the SCT items yielded two factors reflecting cognitive disengagement (in a fog/confused and stares/preoccupied/in own world) and hypoactivity (sluggish/slow moving/low energy, drowsy/sleepy/not alert, and tires easily) in all diagnostic groups. Cognitive disengagement prevalence rates and scores were significantly higher than hypoactivity in the autism and ADHD-C groups and in the autism and ADHD-C subgroups of children with SCT (but not in the ADHD-I and elementary school total groups and SCT subgroups). Our findings factor analyzing five SCT items support two SCT subfactors: cognitive disengagement and hypoactivity.

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226. McArthur GE, Lee E, Laycock R. Autism Traits and Cognitive Performance: Mediating Roles of Sleep Disturbance, Anxiety and Depression. J Autism Dev Disord;2022 (Sep 22)

Theories about autism spectrum disorder (ASD) have addressed cognitive deficits however few have examined how comorbid diagnoses, including sleep disturbance, anxiety and depression contribute to the underlying deficits. We investigated potential mediations of common ASD comorbidities in the relationship between sub-clinical autism traits and cognitive performance using an international community sample. Cognitive tasks assessed working memory [executive functioning (EF) theory], mental state attribution [theory of mind (ToM)], and global/local visual processing [weak central coherence (WCC) theory]. Structural equation modelling (SEM) demonstrated sleep disturbance and anxiety mediated the relationship of autism traits on measures of EF, but not WCC and ToM. This suggests that treating the symptoms of sleep disturbance and anxiety may lead to improvements in working memory.

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227. McCarthy J, Chaplin E, Hayes S, Søndenaa E, Chester V, Morrissey C, Allely CS, Forrester A. Defendants with intellectual disability and autism spectrum conditions: the perspective of clinicians working across three jurisdictions. Psychiatr Psychol Law;2022;29(5):698-717.

The treatment of vulnerable defendants by criminal justice systems or correctional systems varies within and between countries. The purpose of this paper is to examine three legal jurisdictions – New South Wales in Australia; Norway; England and Wales – to understand the extent of variation in practice within the court systems for defendants with intellectual disabilities (ID) and/or autism spectrum conditions (ASC). Two of the jurisdictions had a process for screening in place, either in police custody or at court, but this was not universally implemented across each jurisdiction. All three jurisdictions had a process for supporting vulnerable defendants through the legal system. Across the three jurisdictions, there was variation in disposal options from a mandatory care setting to hospital treatment to a custodial sentence for serious offences. This variation requires further international exploration to ensure the rights of defendants with ID or ASC are understood and safeguarded.

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228. McKinney WS, Kelly SE, Unruh KE, Shafer RL, Sweeney JA, Styner M, Mosconi MW. Corrigendum: Cerebellar volumes and sensorimotor behavior in autism spectrum disorder. Front Integr Neurosci;2022;16:1020980.

[This corrects the article DOI: 10.3389/fnint.2022.821109.].

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229. McLeod BD, Wood JJ, Cecilione Herbst J, Dunn D, Kendall PC, Storch EA, Cho AC, Rosenau KA. Treatment Fidelity and Outcome in CBT for Youth with Autism: The MEYA Fidelity Scale. J Clin Child Adolesc Psychol;2022 (Sep 29):1-16.

OBJECTIVE: Assessing treatment fidelity in effectiveness research is critical to interpreting study findings. This paper details the development and initial psychometric evaluation of the Modular Evidence-Based Practices for Youth with Autism Fidelity Scale (MEYA-FS) designed to support the assessment of cognitive-behavioral treatments for youth with autism in effectiveness research. METHOD: Recorded treatment sessions (N = 338) were randomly selected from 77 youth (M age = 9.65 years, SD = 1.87; 50.67% White; 85.33% male) who received the Schema, Emotion, and Behavior-Focused Therapy for Children (SEBASTIEN) (n = 51) or Coping Cat (n = 24) program. RESULTS: The MEYA-FS Adherence items displayed acceptable interrater reliability, but more than half of the MEYA-FS Competence items did not. The magnitude and pattern of correlations supported the score validity of the MEYA-FS Adherence and Competence items and subscales. However, some corresponding Adherence and Competence items displayed significant overlap. Scores on each Adherence subscale distinguished between the SEBASTIEN and Coping Cat programs, providing support for discriminant validity. Finally, higher Adherence and Competence subscales predicted significant improvements in youth clinical outcomes (adjustment problems in the school setting, social-communication difficulties, restrictive/repetitive behaviors, and externalizing problems), providing initial evidence for predictive validity. CONCLUSIONS: The psychometric properties of the MEYA-FS make it appropriate for supporting efforts to evaluate cognitive-behavioral interventions for youth with autism in effectiveness and implementation research.

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230. Meguid NA, Mawgoud YIA, Bjørklund G, Mehanne NS, Anwar M, Effat BAE, Chirumbolo S, Elrahman MMA. Molecular Characterization of Probiotics and Their Influence on Children with Autism Spectrum Disorder. Mol Neurobiol;2022 (Nov);59(11):6896-6902.

Children with autism spectrum disorder (ASD) are usually unable to express abdominal discomfort properly, and thus gastrointestinal symptoms (GIS) are sometimes shadowed by aggression, which is sometimes misunderstood as a behavioral characteristic of ASD. Several studies have reported interesting correlations between the severity of behavioral and gastrointestinal symptoms in ASD children. The present study aimed to investigate the potential effects of probiotics as an adjuvant therapy to modulate the clinical status of ASD children. This study included 40 children with ASD aged 2-5 years. The feeding product was prepared from whey powder (without casein) and some minced cooked yellow vegetables in adequate ratios fortified with the studied probiotic strains (Bifidobacterium spp. and Lactobacillus spp.). Bifidobacterium strains were assessed from stool samples of children with ASD. Bifidobacterium strains were analyzed in the stools of ASD children. Recruited ASD patients received 10 g of the nutritional supplement once a day for 3 months. Childhood Autism Rating Scale (CARS) and Autism Diagnostic Interview-Revised (ADIR) were reevaluated clinically. Questionnaire on Pediatric Gastrointestinal Symptoms-Rome III Version was used for all children with ASD before and after. There is a significant increase in the colony counts of both Bifidobacterium spp. and Lactobacillus spp., which present in the stool of ASD children after probiotic supplementation for 3 months. It was highly significant in the case of Bifidobacterium spp. (p value 0.000) and a significant increase in Lactobacillus spp. (p value 0.015). The present study showed reduced anxiety and observation of deep sleep for children with ASD (80%) after taking the supplementation. This indicates that probiotics may have a potential effect in reducing symptoms and severity of ASD and in correcting dysbiosis.

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231. Mei T, Forde NJ, Floris DL, Dell’Acqua F, Stones R, Ilioska I, Durston S, Moessnang C, Banaschewski T, Holt RJ, Baron-Cohen S, Rausch A, Loth E, Oakley B, Charman T, Ecker C, Murphy DGM, Beckmann CF, Llera A, Buitelaar JK. Autism is associated with inter-individual variations of gray and white matter morphology. Biol Psychiatry Cogn Neurosci Neuroimaging;2022 (Sep 5)

BACKGROUND: Although many studies have explored atypicalities in gray and white matter (GM, WM) morphology of autism, most of them rely on unimodal analyses that do not benefit from the likelihood that different imaging modalities may reflect common neurobiology. We aimed to establish brain patterns of modalities that differentiate between autism and controls and explore associations between these brain patterns and clinical measures. METHODS: We studied 183 individuals with autism and 157 non-autistic individuals (6-30 years) in a large deeply phenotyped autism dataset (EU-AIMS LEAP). Linked Independent Component Analysis was utilized to link all participants’ GM volume and WM diffusion tensor images, and group comparisons of modality shared variances were examined. Subsequently, we performed univariate and multivariate brain-behavior correlation analyses to separately explore the relations between brain patterns and clinical profiles. RESULTS: One multimodal pattern was significantly related to autism. This pattern was primarily associated with GM volume in bilateral insula, frontal, pre- and post-central, cingulate, and caudate areas, and co-occurred with altered WM features in the superior longitudinal fasciculus. The brain-behavior correlation analyses showed a significant multivariate association primarily between brain patterns that involved variation of WM, and symptoms of restricted and repetitive behavior in the autism group. CONCLUSIONS: Our findings demonstrate the assets of integrated analyses of GM and WM alterations to study the brain mechanisms that underpin autism, and show that the complex clinical autism phenotype can be interpreted by brain covariation patterns that are spread across the brain involving both cortical and subcortical areas.

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232. Memisevic H, Djipa A. Content Analysis of Abstracts Published in Autism Journals in 2021: The year in Review. J Autism Dev Disord;2022 (Sep 20):1-7.

PURPOSE: Ever since Leo Kanner first described autism in 1943, the research in this field has grown immensely. In 2021 alone, 5837 SCOPUS indexed documents were published with a title that contained the words: « autism », « autistic », or « ASD ». The purpose of this study was to examine the most common topics of autism research in 2021 and present a geographical contribution to this research. METHODS: We performed a content analysis of 1102 abstracts from the articles published in 11 Autism journals in 2021. The following journals, indexed by the SCOPUS database, were included: Autism, Autism Research, Molecular Autism, Journal of Autism and Developmental Disorders, Research in Autism Spectrum Disorders, Focus on Autism and Other Developmental Disabilities, Education and Training in Autism and Developmental Disabilities, Review Journal of Autism and Developmental Disorders, Advances in Autism, Autism and Developmental Language Impairments, and Autism in Adulthood. RESULTS: According to the analysis, the main research topics were: mental health, social communication, social skills, quality of life, parenting stress, ADHD, Covid-19, self-efficacy, special education, and theory of mind. In relation to geographic distribution, most studies came from the USA, followed by the UK, Australia, and Canada. CONCLUSION: Research topics were aligned with the priorities set by stakeholders in autism, most notably persons with autism themselves and their family members. There is a big gap in research production between developed countries and developing countries.

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233. Mihaila I, Hsieh K, Acharya K. Correlates of Social Participation of Adults with Intellectual and Developmental Disabilities. J Intellect Disabil;2022 (Sep 29):17446295221130556.

Social participation has been linked to healthy aging, yet little is known about social participation during extended periods of time for adults with intellectual and developmental disabilities. The social participation of 777 adults with intellectual and developmental disabilities (aged 18-77 years), during a 4-year period, was examined. Sociodemographic, physical, and behavioral health-related correlates of engagement in social participation were investigated. Findings indicated that the majority of adults with intellectual and developmental disabilities engaged in at least a moderate level of social participation during the 4-years. Employment status, physical health, and Special Olympics participation were associated with a higher level of social participation. Findings have implications for supports and services seeking to promote social participation opportunities for adults with intellectual and developmental disabilities.

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234. Miot S, Chancel R, Peries M, Crepiat S, Couderc S, Pernon E, Picot MC, Gonnier V, Jeandel C, Blain H, Baghdadli A. Multimorbidity patterns and subgroups among autistic adults with intellectual disability: Results from the EFAAR study. Autism;2022 (Sep 2):13623613221121623.

Multimorbidity relates to having multiple chronic health conditions. It is a risk factor for poor health and reduces life expectancy. Autistic people have multiple chronic health conditions and die prematurely, especially if they have an intellectual disability (autism spectrum disorder and intellectual disability). Certain pathophysiological processes observed in autism spectrum disorder are common to those related to the genesis and/or maintenance of multimorbidity. Furthermore, multimorbidity could be helpful in better identifying patient subgroups in autism spectrum disorder. It is therefore essential to better characterize multimorbidity and its consequences in the subgroup of autism spectrum disorder + intellectual disability individuals to offer them personalized care. We conducted a preliminary study of 63 autism spectrum disorder + intellectual disability adults to classify them according to their multimorbidity and search for a specific combination of chronic health conditions. We observed high and early multimorbidity in this sample and identified four classes of participants, distinguished by their multimorbidity status, independence and number of treatments. In addition, we observed a dominant combination of multimorbidity in our sample, combining immune dysfunction and gastrointestinal disorders, neurological and joint diseases. These findings support the hypothesis that an altered gut-brain relationship is involved in the risk of autism spectrum disorder, its outcome, and its association with chronic health conditions. Although larger studies are needed, our results suggest that subgroups of autism spectrum disorder + intellectual disability individuals can be identified based on their multimorbidity and potentially different ageing trajectories. A more comprehensive and personalized approach is needed to reduce the burden of multimorbidity and increase the quality of life and life expectancy in autism spectrum disorder/ intellectual disability.

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235. Mishra A, Singla R, Kumar R, Sharma A, Joshi R, Sarma P, Kaur G, Prajapat M, Bhatia A, Medhi B. Granulocyte Colony-Stimulating Factor Improved Core Symptoms of Autism Spectrum Disorder via Modulating Glutamatergic Receptors in the Prefrontal Cortex and Hippocampus of Rat Brains. ACS Chem Neurosci;2022 (Sep 27)

Chronic neuroinflammation-induced anomalous glutamate receptor activation has been identified as one of the important factors in the pathogenesis of autism spectrum disorder (ASD). Thus, the current study was designed to elucidate the neuroprotective effect of the granulocyte colony-stimulating factor (G-CSF), a haemopoietic growth factor, an anti-inflammatory, and a neuroprotectant to decipher the underlying mechanism(s) in the valproic acid (VPA)-induced experimental model of ASD. Experimentally, the ASD rat model was induced by a single dose of VPA (600 mg/kg; i.p.) on gestation day 12.5 to the pregnant female rats. After birth, pups were treated with vehicle, that is, normal saline 0.9% i.p., risperidone (2.5 mg/kg; i.p.), and G-CSF (10, 35, and 70 μg/kg; i.p.) from postnatal day (PND) 23 to 43. All the groups were subjected to various developmental and behavior (???) tests from birth. The rats were sacrificed on PND 55, and their brain was excised and processed for biochemical parameters (oxidative stress, inflammatory markers, BDNF), histological examination (H&E, Nissl staining), NMDA, and AMPA receptor expression by immunohistochemistry, western blot, and real-time polymerase chain reaction evaluation. Also, the possible interaction of the G-CSF with NMDA and AMPA receptors was evaluated using the in silico method. The results of the study showed that in VPA-exposed rats, postnatal treatment of the G-CSF rescued all the behavioral abnormalities, oxidative stress, and inflammatory parameters in a dose-dependent manner while risperidone did not show any significant results. The in silico analysis showed the direct interaction of the G-CSF with NMDA and AMPA receptors. The upregulated expression of NMDA and AMPA both in the prefrontal cortex as well as hippocampus was alleviated by the G-CSF thereby validating its anti-inflammatory and excitoprotective properties. Thus, the G-CSF demonstrated neuroprotection against the core symptoms of autism in the VPA-induced rodent model, making it a potential candidate for the treatment of ASD.

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236. Mohammadkhani R, Ghahremani R, Salehi I, Safari S, Karimi SA, Zarei M. Impairment in social interaction and hippocampal long-term potentiation at perforant pathway-dentate gyrus synapses in a prenatal valproic acid-induced rat model of autism. Brain Commun;2022;4(5):fcac221.

It is well established that prenatal valproic acid exposure in rats leads to autism-like behaviours and social deficits. Long-term potentiation changes in the brain have been proposed as a potential mechanism in the development of autistic behaviour. However, there are controversies regarding the effect of in utero valproic acid exposure on long-term potentiation. This study examined the social interaction and long-term potentiation induction in perforant pathway-dentate gyrus synapses in male offspring of a rat model of autism induced by prenatal exposure to valproic acid. On Embryonic Day 12.5, the pregnant dams received an injection of 500 mg/kg valproic acid (intraperitoneal) to produce the autism model. The sociability test was performed between Postnatal Days 37 and 40. The offsprings were urethane-anaesthetized and placed into a stereotaxic apparatus for surgery, electrode implantation and field potential recording on Postnatal Days 45-55. In the dentate gyrus region, excitatory postsynaptic potential slope and population spike amplitude were measured. Valproic acid-exposed offspring showed significantly impaired social interaction. The birth weight in valproic acid-exposed rats was significantly lower than in control rats. The ability of dentate gyrus synapses to induce long-term potentiation was hampered by valproic acid exposure. The decreasing excitatory postsynaptic potential slope and population spike amplitude of long-term potentiation provide evidence in favour of this notion. It is widely supposed that the hippocampus plays a central role in the process of learning and memory as well as social interaction and social memory. Therefore, deficiencies in hippocampal synaptic plasticity may be responsible, at least in part, for the social interaction deficits in valproic acid-exposed rats.

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237. Mohammed SA, Rajashekar S, Giri Ravindran S, Kakarla M, Ausaja Gambo M, Yousri Salama M, Haidar Ismail N, Tavalla P, Uppal P, Hamid P. Does Vaccination Increase the Risk of Autism Spectrum Disorder?. Cureus;2022 (Aug);14(8):e27921.

Autism spectrum disorder (ASD) is a developmental disorder that can cause significant social, communicative, and behavioral difficulties. With autism rates rising dramatically in recent years, researchers and concerned parents have theorized the causes of autism, and the subject has received much attention. Is the high rate of autism now due to increased diagnosis and reporting, changing autism definitions, or a rise in the number of people with ASD? People started to blame vaccines as a cause of the increased number of people with ASD. Vaccines and their connection to autism have been the subject of continuous debate. Some parents are concerned that vaccines, particularly the measles-mumps-rubella (MMR) vaccine and preservatives used in other childhood vaccines, may play a role in developing autism in their children. This systemic review explores the link between vaccination and autism in children. We conducted a literature search using PubMed and Google Scholar. We included papers written in the English language from 1998 to 2022, conducting human research that examines the relationship between vaccination and the development of autism using appropriate quality assessment tools. Two reviewers independently reviewed the content of the included studies. In total, 21 studies were deemed eligible.

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238. Mohan G, Sarma RJ, Iyer M, Kumar NS, Vellingiri B. Highlighting novel genes associated with the classical Rett syndrome patient from India. Genes Dis;2022 (Nov);9(6):1394-1396.

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239. Montazeri F, Buitelaar JK, Oosterling IJ, de Bildt A, Anderson GM. Network Structure of Autism Spectrum Disorder Behaviors and Its Evolution in Preschool Children: Insights from a New Longitudinal Network Analysis Method. J Autism Dev Disord;2022 (Sep 6)

Network modeling of the social, communication and restrictive/repetitive behaviors (RRBs) included in the definition of Autism Spectrum Disorder was performed. The Autism Diagnostic Interview-Revised (ADI-R) assessed behaviors in 139 pre-school cases at two cross-sections that averaged 34.8 months apart. Cross-sectional networks were based on the correlation matrix of the ADI-R behavioral items and the « bootCross » method was developed and enabled the estimation of a longitudinal network. At both stages, RRB items/nodes formed a consistent peripheral cluster, while social and communication nodes formed a core cluster that diverged with time. These differences in the nature and evolution of the RRB and socio-communicative dimensions indicate that their inter-behavior dynamics are very different. The most central behaviors across stages are proposed as prime targets for efficient therapeutic intervention.

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240. Montenegro JTP, Seguin D, Duerden EG. Joint attention in infants at high familial risk for autism spectrum disorder and the association with thalamic and hippocampal macrostructure. Cereb Cortex Commun;2022;3(3):tgac029.

Autism spectrum disorder (ASD) is a heritable neurodevelopmental disorder. Infants diagnosed with ASD can show impairments in spontaneous gaze-following and will seldom engage in joint attention (JA). The ability to initiate JA (IJA) can be more significantly impaired than the ability to respond to JA (RJA). In a longitudinal study, 101 infants who had a familial risk for ASD were enrolled (62% males). Participants completed magnetic resonance imaging scans at 4 or 6 months of age. Subcortical volumes (thalamus, hippocampus, amygdala, basal ganglia, ventral diencephalon, and cerebellum) were automatically extracted. Early gaze and JA behaviors were assessed with standardized measures. The majority of infants were IJA nonresponders (n = 93, 92%), and over half were RJA nonresponders (n = 50, 52%). In the nonresponder groups, models testing the association of subcortical volumes with later ASD diagnosis accounted for age, sex, and cerebral volumes. In the nonresponder IJA group, using regression method, the left hippocampus (B = -0.009, aOR = 0.991, P = 0.025), the right thalamus (B = -0.016, aOR = 0.984, P = 0.026), as well as the left thalamus (B = 0.015, aOR = 1.015, P = 0.019), predicted later ASD diagnosis. Alterations in thalamic and hippocampal macrostructure in at-risk infants who do not engage in IJA may reflect an enhanced vulnerability and may be the key predictors of later ASD development.

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241. Montenegro MC, Bernal E, Cukier S, Valdez D, Rattazzi A, Garrido G, Rosoli A, Silvestre Paula C, Garcia R, Montiel-Nava C. Age of diagnosis, service access, and rights of autistic individuals in Argentina: Caregivers reports of changes and similarities across time. Front Psychiatry;2022;13:915380.

BACKGROUND: Many countries have developed health initiatives to protect those with disabilities and developmental concerns in the past few years. However, the needs of autistic individuals are still short of being fulfilled. Partially due to limited research expenditure, which would allow bridging the gap between evidence and practice, the long time it takes to implement passed laws, and the limited operationalization of inclusive policies. OBJECTIVE: To quantitatively examine changes in the child’s age at the time of caregiver’s first developmental concerns and age of diagnosis of their autistic child across 5 years. Also, to address challenges experienced by caregivers (e.g., reported service barriers) and the work still needing to be done in Argentina based on caregivers’ reports of their priorities (e.g., ensuring their child receives better services). METHODS: Two independent samples of caregivers of autistic individuals were surveyed by the Red Espectro Autista Latinoamerica (REAL) in 2015 (n = 763) and the World Health Organization (WHO) in 2020 (n = 422). Similar items in both surveys were compared through descriptive inferential analysis and chi-square tests for categorical variables. RESULTS: Compared to the 2015 sample, for the 2020 sample, more caregivers reported an earlier age of first concerns and an earlier age of a professional diagnosis. In the 2020 sample, more children diagnosed before the age of three had a doctor or a teacher noticing the first developmental concern. Also, in this sample, fewer caregivers reported service barriers (e.g., limited availability, waitlist, costs, etc.) and a need for better social support and better health services. However, rates of caregivers indicating a need for more rights for autistic individuals and greater protection of existing rights increased. There was no change in the reported rate of family members who stopped working to care for the autistic individual. For both samples, there was statistically significant differences in individual (physician, teacher, caregiver) noticing first developmental concern and the age of diagnosis, with the majority having a caregiver noticing the first concern. CONCLUSION: The 5 years that separate both samples show an improvement in developmental concerns being noticed, a decrease in age of diagnosis, and an improvement in several service areas such as community awareness. Also, caregivers reported fewer barriers to service accessibility, thus suggesting a positive impact stemming from changes in public policies, non-profit organizations’ work through awareness campaigns, and advocates’ strives toward greater awareness. Nonetheless, a similar proportion of family members reported ceasing working to care for autistic individuals and perceived that the fundamental rights of their autistic children needed to be protected. These results imply that despite better care pathways in Argentina, there are still gaps when attempting to meet the needs of autistic individuals and their families. The present study provides a meaningful understanding of existing gaps and help exemplify the perceived improvements when non-profit agencies and advocates promote increased rights and community awareness in addition to the established laws focusing on ASD.

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242. Montiel-Nava C, Tregnago M, Marshall J, Sohl K, Curran AB, Mahurin M, Warne-Griggs M, Dixon P. Implementing the WHO caregivers skills training program with caregivers of autistic children via telehealth in rural communities. Front Psychiatry;2022;13:909947.

BACKGROUND: For families with autistic children living in rural areas, limited access to services partly results from a shortage of providers and extensive travel time. Telehealth brings the possibility of implementing alternative delivery modalities of Parent Mediated Interventions (PMIs) with the potential to decrease barriers to accessing services. This study aimed to evaluate the feasibility and acceptability of implementing the World Health Organization-Caregivers Skills Training program (WHO-CST) via an online, synchronous group format in rural Missouri. METHODS: We used a mixed methods design to collect qualitative and quantitative data from caregivers and program facilitators at baseline and the end of the program, following the last home visit. Caregivers of 14 autistic children (3-7 years), residents of rural Missouri, completed nine virtual sessions and four virtual home visits. RESULTS: Four main themes emerged from the focus groups: changes resulting from the WHO-CST, beneficial aspects of the program, advantages and disadvantages of the online format, and challenges to implementing the WHO-CST via telehealth. The most liked activity was the demonstration (36%), and the least liked was the practice with other caregivers. From baseline to week 12, communication skills improved in both frequency (p < 0.05) and impact (p < 0.01), while atypical behaviors decreased (p < 0.01). For caregivers' outcomes, only confidence in skills (p < 0.05) and parental sense of competence (p < 0.05) showed a positive change. CONCLUSION: Our results support the feasibility of implementing the WHO-CST program via telehealth in a US rural setting. Caregivers found strategies easy to follow, incorporated the program into their family routines, and valued the group meetings that allowed them to connect with other families. A PMI such as the WHO-CST, with cultural and linguistic adaptations and greater accessibility via telehealth-plays an essential role in closing the treatment gap and empowering caregivers of autistic children.

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243. Munagala N, Saravanan V, Almukhtar FH, Jhamat N, Kafi N, Khan S. Supervised Approach to Identify Autism Spectrum Neurological Disorder via Label Distribution Learning. Comput Intell Neurosci;2022;2022:4464603.

Autism Spectrum Disorder (ASD) is a complicated collection of neurodevelopmental illnesses characterized by a variety of developmental defects. It is a binary classification system that cannot cope with reality. Furthermore, ASD, data label noise, high dimension, and data distribution imbalance have all hampered the existing classification algorithms. As a result, a new ASD was proposed. This strategy employs label distribution learning (LDL) to deal with label noise and uses support vector regression (SVR) to deal with sample imbalance. The experimental results show that the proposed method balances the effects of majority and minority classes on outcomes. It can effectively deal with imbalanced data in ASD diagnosis, and it can help with ASD diagnosis. This study presents a cost-sensitive approach to correct sample imbalance and uses a support vector regression (SVR)-based method to remove label noise. The label distribution learning approach overcomes high-dimensional feature classification issues by mapping samples to the feature space and then diagnosing multiclass ASD. This technique outperforms previous methods in terms of classification performance and accuracy, as well as resolving the issue of unbalanced data in ASD diagnosis.

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244. Muniandy M, Richdale AL, Lawson LP. Coping-resilience profiles and experiences of stress in autistic adults. Autism Res;2022 (Sep 16)

Emerging studies allude to high stress in autistic adults. Considering the detrimental impact of stress on health outcomes, examining individual resources which may influence the extent to which stress is experienced (e.g., coping and resilience) is vital. Using a person-focused approach, this study aimed to identify coping-resilience profiles, and examine their relations to general perceived stress and daily hassles in a sample of autistic adults (N = 86; aged 19-74 years). Cluster analysis identified four coping-resilience profiles (i.e., high cope/ low resilience, low cope/ high resilience, engage cope/ high resilience, and disengage cope/ low resilience). The high cope/ low resilience and disengage cope/ low resilience groups had significantly higher general perceived stress than the remaining groups. No significant group differences were noted in relation to daily hassles. Jointly addressing coping and resilience may be beneficial on the perceived stress experienced in autistic adults. The use of coping-resilience profiles may also allow for the personalization of stress management and support options in the autistic adult population. LAY SUMMARY: High stress is increasingly reported in autistic adults. As stress can impact individual health, examining how autistic individuals cope with stress, and their resilience when faced with stressful events, is important. In this study, we grouped 86 autistic individuals aged 19-74 years based on their coping and resilience patterns. We then compared these groups across their general sense of stress and stress over daily hassles. Four coping-resilience groups were identified, where those demonstrating a combination of high disengagement coping strategy use and low resilience reported the highest general sense of stress. These results suggest that a joint focus on coping strategies and resilience may be beneficial in understanding the stress experienced in autistic adults. Characterizing individuals based on their coping-resilience patterns can inform support services, personalize stress management options and identify individuals who may be at risk for experiencing high stress in the autistic adult population.

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245. Munsell EGS, Coster WJ. How have Participation Outcomes of Autistic Young Adults been Measured? A Scoping Review. J Autism Dev Disord;2022 (Sep 7)

Autistic young adults experience challenges participating in the workforce, post-secondary schooling, and living in the community. We examined how participation outcomes have been measured in autistic young adults. Articles (n = 113) were identified through database searches and citation tracking. Guided by current models in the literature, data were extracted for each measure of participation. Results include a description of the studies in the review, the extent to which participation across life situations has been addressed, and a critical analysis of the measures used to describe participation. While there is some breadth in the investigation of participation across diverse life situations, there is limited depth in what the measures capture and many measures used lack psychometric support.

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246. Muscatello RA, Rafatjoo E, Mirpuri KK, Kim A, Vandekar S, Corbett BA. Salivary testosterone in male and female youth with and without autism spectrum disorder: considerations of development, sex, and diagnosis. Mol Autism;2022 (Sep 19);13(1):37.

BACKGROUND: Puberty is characterized by significant physical, hormonal, and psychological changes, which may be especially challenging for individuals with autism spectrum disorder (ASD). Although the etiology of ASD remains uncertain, studies suggest imbalances in hormones, such as testosterone, may modulate the autism phenotype. While differences in fetal and postnatal testosterone have been reported, there is limited literature regarding testosterone variations during adolescence in ASD. We investigated morning salivary testosterone levels in youth with ASD and typical development (TD) to explore hypothesized differences, expecting elevated hormonal levels in ASD compared to TD. METHODS: Youth with ASD (n = 140) and TD (n = 104), ages 10 to 13 years, were enrolled as part of a longitudinal study on pubertal development. Pubertal stage was determined by gold standard physical examination, and salivary testosterone was collected in the morning immediately upon waking and 30 min after waking and averaged across 3 days. Diagnostic (ASD/TD) and sex (male/female) differences, as well as interactions with age and puberty, were examined using robust linear mixed effect models. RESULTS: Youth with ASD showed significantly elevated testosterone concentrations compared to same-age TD peers. After the inclusion of natural cubic splines to account for nonlinearity in age, a significant age-by-sex interaction emerged with distinct developmental slopes for males and females. At younger ages, females had higher testosterone, until about 11.5 years of age, when levels began to plateau, while male testosterone concentrations continued to rapidly increase and surpass females. As expected, more advanced pubertal development was associated with elevated testosterone. In contrast, no significant effect of parent-reported social communication symptoms was observed. LIMITATIONS: Limitations include an unequal sex distribution, non-representative sample (e.g., cognition and race/ethnicity), and inability to examine afternoon/evening testosterone due to detection limits. CONCLUSIONS: Testosterone may play a unique role in the presentation of ASD, especially during periods of dynamic hormonal changes including puberty. Inherent developmental (age, puberty) and sex-based (male, female) factors play a more prominent role in changes in testosterone levels during adolescence. Even so, future research is warranted to determine the differential expression and impact of exposure to excess testosterone during the pubertal transition for youth with ASD.

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247. Nakazato M. Do autism spectrum traits run in severe anorexia nervosa?. Psychiatry Clin Neurosci;2022 (Sep);76(9):415.

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248. Nasrallah O, Alzeer S. Measuring Some Oxidative Stress Biomarkers in Autistic Syrian Children and Their Siblings: A Case-Control Study. Biomark Insights;2022;17:11772719221123913.

OBJECTIVE: Autism Spectrum Disorder (ASD) is a common neurodevelopmental disorder whose cause remains unknown. Oxidative stress is one of the possible causes of many disorders, including neurological ones. This study aims to measure some oxidative stress biomarkers (Malondialdehyde « MDA, » Advanced Oxidation Protein Product « AOPP, » Glutathione « GSH ») within Syrian children with ASD. METHODS: MDA, AOPP & GSH were measured in the plasma of a total of 60 children. The ages of the children ranged from 1 to 13 years old. Thirty children had ASD and were compared with 30 controls that don’t have ASD. Fifteen of the controls were siblings of an ASD child, while the remaining 15 had no relations with ASD. RESULTS: MDA and AOPP plasma levels were higher in ASD children compared with non-related controls (P = .0001). However, there were no significant differences between MDA and AOPP plasma levels in ASD children in comparison with related controls (P > .05). Alternatively, GSH plasma levels were lower in ASD children compared with both related and non-related controls (P = .0001). CONCLUSION: Further studies are needed to investigate more regarding the diagnostic use of oxidative stress biomarkers, and the therapeutic use of antioxidants in children affected with the autism spectrum disorder.

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249. Nees F, Banaschewski T, Bokde ALW, Desrivières S, Grigis A, Garavan H, Gowland P, Grimmer Y, Heinz A, Brühl R, Isensee C, Becker A, Martinot JL, Paillère Martinot ML, Artiges E, Papadopoulos Orfanos D, Lemaître H, Stringaris A, van Noort B, Paus T, Penttilä J, Millenet S, Fröhner JH, Smolka MN, Walter H, Whelan R, Schumann G, Poustka L, On Behalf Of The Imagen C. Global and Regional Structural Differences and Prediction of Autistic Traits during Adolescence. Brain Sci;2022 (Sep 2);12(9)

Autistic traits are commonly viewed as dimensional in nature, and as continuously distributed in the general population. In this respect, the identification of predictive values of markers such as subtle autism-related alterations in brain morphology for parameter values of autistic traits could increase our understanding of this dimensional occasion. However, currently, very little is known about how these traits correspond to alterations in brain morphology in typically developing individuals, particularly during a time period where changes due to brain development processes do not provide a bias. Therefore, in the present study, we analyzed brain volume, cortical thickness (CT) and surface area (SA) in a cohort of 14-15-year-old adolescents (N = 285, female: N = 162) and tested their predictive value for autistic traits, assessed with the social responsiveness scale (SRS) two years later at the age of 16-17 years, using a regression-based approach. We found that autistic traits were significantly predicted by volumetric changes in the amygdala (r = 0.181), cerebellum (r = 0.128) and hippocampus (r = -0.181, r = -0.203), both in boys and girls. Moreover, the CT of the superior frontal region was negatively correlated (r = -0.144) with SRS scores. Furthermore, we observed a significant association between the SRS total score and smaller left putamen volume, specifically in boys (r = -0.217), but not in girls. Our findings suggest that neural correlates of autistic traits also seem to lie on a continuum in the general population, are determined by limbic-striatal neuroanatomical brain areas, and are partly dependent on sex. As we imaged adolescents from a large population-based cohort within a small age range, these data may help to increase the understanding of autistic-like occasions in otherwise typically developing individuals.

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250. Nekar DM, Kang H, Alao H, Yu J. Feasibility of Using Multiplayer Game-Based Dual-Task Training with Augmented Reality and Personal Health Record on Social Skills and Cognitive Function in Children with Autism. Children (Basel);2022 (Sep 15);9(9)

The purpose of this preliminary study was to evaluate the feasibility of multiplayer game contents with dual-task exercises using augmented reality (AR) and a personal health record (PHR) system for social skills and cognitive function in children with autism. The present study used a single group pretest-posttest study design with fourteen children diagnosed with autism and aged 6-16 years. The intervention consisted of various game contents designed specifically with cognitive and motor tasks, performed for 30 min per session, twice a week, for three weeks. Outcome measures were conducted before and after the intervention and included social skills and cognitive function. A satisfactory survey was conducted post-intervention to assess the usability of the performed games. As result, statistically significant improvements were observed in all subscales of the social skills and cognitive function expected in two subscales of each measured outcome. Parents and children appreciated the overall game program, and no risk of injury and dizziness were mentioned. This preliminary study found that multiplayer game-based dual-task training using AR and PHR was feasible and has a promising efficacy for children with autism. However, there is the need to conduct a randomized control study with a large sample size.

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251. Nelson BB, Ratushnyak D, Richards A, Sabo RT, Wolf ER, Krist AH. Using claims data to map unmet service needs for early childhood developmental disabilities in VA. Acad Pediatr;2022 (Sep 12)

BACKGROUND: Developmental disabilities (DD) affect over 10% of children 0-5 years of age, and early interventions are known to improve outcomes, yet barriers remain in connecting children to these services. OBJECTIVE: To identify gaps in services for young children with DD and established risk conditions in Virginia. METHODS: Data from the 2018 Virginia All Payers Claim Database and the American Community Survey were used to estimate the proportion of children with DD, and among those children, the proportion that received at least one intervention service. Logistic and binomial regression models were used to examine the socio-demographic associations with having developmental needs met, at the individual and zip code tabulation (ZCTA) level. RESULTS: Approximately 12% of children 0-5 years were found to have DD or established risk condition diagnosis, and only 54% of these received intervention services during that year. Individual-level analyses suggest that odds of having developmental needs met are higher among older children, boys, and children with public insurance. ZCTA-level analyses suggested higher odds of developmental needs being met in areas with higher levels of unemployment, while areas with high proportions of people with limited English proficiency and a high school education or less had lower odds of having needs met. CONCLUSIONS: Receiving early childhood developmental services in VA is associated with having public insurance and living in an area with higher levels of unemployment, higher education, and English-proficiency. Efforts are needed to improve delivery of services overall, specifically targeted to those areas with high levels of unmet need.

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252. Nguyen J, Zhang B, Hanson E, Mylonas D, Maski K. Neurobehavioral Associations with NREM and REM Sleep Architecture in Children with Autism Spectrum Disorder. Children (Basel);2022 (Aug 30);9(9)

OBJECTIVE: Insomnia and daytime behavioral problems are common issues in pediatric autism spectrum disorder (ASD), yet specific underlying relationships with NonRapid Eye Movement sleep (NREM) and Rapid Eye Movement (REM) sleep architecture are understudied. We hypothesize that REM sleep alterations (REM%, REM EEG power) are associated with more internalizing behaviors and NREM sleep deficits (N3%; slow wave activity (SWA) 0.5-3 Hz EEG power) are associated with increased externalizing behaviors in children with ASD vs. typical developing controls (TD). METHODS: In an age- and gender-matched pediatric cohort of n = 23 ASD and n = 20 TD participants, we collected macro/micro sleep architecture with overnight home polysomnogram and daytime behavior scores with Child Behavior Checklist (CBCL) scores. RESULTS: Controlling for non-verbal IQ and medication use, ASD and TD children have similar REM and NREM sleep architecture. Only ASD children show positive relationships between REM%, REM theta power and REM beta power with internalizing scores. Only TD participants showed an inverse relationship between NREM SWA and externalizing scores. CONCLUSION: REM sleep measures reflect concerning internalizing behaviours in ASD and could serve as a biomarker for mood disorders in this population. While improving deep sleep may help externalizing behaviours in TD, we do not find evidence of this relationship in ASD.

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253. Nibbio G, Barlati S, Calzavara-Pinton I, Necchini N, Invernizzi E, Dell’Ovo D, Lisoni J, Deste G, Vita A. Assessment and correlates of autistic symptoms in Schizophrenia Spectrum Disorders measured with the PANSS Autism Severity Score: A systematic review. Front Psychiatry;2022;13:934005.

Schizophrenia Spectrum Disorders (SSD) and Autism Spectrum Disorders (ASD) are considered separate entities, but the two spectra share important similarities, and the study of these areas of overlap represents a field of growing scientific interest. The PANSS Autism Score (PAUSS) was recently developed specifically to assess autistic symptoms in people living with SSD reliably and quickly. The aims of the present systematic review were to provide a comprehensive assessment of the use of the PAUSS scale in available literature and to systematically analyze cognitive, functional and neurobiological correlates of autistic symptoms measured with this instrument in SSD. The systematic literature search included three electronic databases (PubMed, Scopus and PsycINFO) as well as a manual search in Google Scholar and in reference lists of included papers. Screening and extraction were conducted by at least two independent reviewers. Out of 213 identified records, 22 articles referring to 15 original studies were included in the systematic review. Studies were conducted in several different countries by independent groups, showing consistent scientific interest in the use of the scale; most works focused on cognitive and functional correlates of ASD symptoms, but some also considered neurobiological features. Results of included studies showed that autistic symptoms in people with SSD are consistently associated with worse cognitive performance, especially in the social cognition domain, and with worse psychosocial functioning. However, the presence of autistic symptoms appears to also have a protective role, particularly on functioning, in subjects with more severe psychotic symptoms. Further exploring the impact of autistic symptoms could be of significant scientific and clinical interest, allowing the development of tailored interventions to improve treatment for people living with SSDs.

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254. Nisticò V, Iacono A, Goeta D, Tedesco R, Giordano B, Faggioli R, Priori A, Gambini O, Demartini B. Hypermobile spectrum disorders symptoms in patients with functional neurological disorders and autism spectrum disorders: A preliminary study. Front Psychiatry;2022;13:943098.

Autism spectrum disorders (ASDs) and functional neurological disorders (FNDs) share some clinical characteristics such as alexithymia, sensory sensitivity and interoceptive issues. Recent evidence shows that both the disorders present symptoms compatible with a diagnosis of hypermobile Ehlers-Danlos Syndrome and hypermobile spectrum disorders (hEDS/HSD), a heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Here we compared the prevalence of hEDS/HSD-related symptoms in a group of patients with FNDs, of people with ASDs without intellectual disabilities, and a non-clinical comparison group (NC). Twenty patients with FNDs, 27 individuals with ASDs without intellectual disabilities and 26 NC were recruited and completed the Self-reported screening questionnaire for the assessment of hEDS/HSD-related symptoms (SQ-CH). We found that 55% of the patients with FNDs, 44.4% of the individuals with ASDs and 30.8% of NC scored above the cut-off at the SQ-CH; SQ-CH scores of both FNDs and ASDs group were significantly higher than the NC group’s ones. In conclusion, both ASDs and FNDs individuals present hEDS/HSD-related symptoms in a higher number than the general population. Imputable mechanisms include (i) overwhelming of executive functions with consequent motor competence impairment for ASDs individuals, and (ii) exacerbation of FNDs symptoms by physical injury and chronic pain due to abnormal range of joint mobility. Moreover, we speculated that the amygdala and the anterior cingulate cortex circuitry might be responsible for the imbalances at the proprioceptive, interoceptive, and emotional levels.

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255. Norris LA, Rabner JC, Storch EA, Wood JJ, Kerns C, Lewin AB, Small BJ, Kendall PC. Idiographic Coping Outcomes in Youth with Autism Spectrum Disorder and Co-Occurring Anxiety: Results from the TAASD Study. J Autism Dev Disord;2022 (Sep 21)

Versions of cognitive behavioral therapy (Coping Cat, CC; Behavioral Interventions for Anxiety in Children with Autism, BIACA) have shown efficacy in treating anxiety among youth with autism spectrum disorder. Measures of efficacy have been primarily nomothetic symptom severity assessments. The current study examined idiographic coping outcomes in the Treatment of Anxiety in Autism Spectrum Disorder study (N = 167). Longitudinal changes in coping with situations individualized to youth fears (Coping Questionnaire) were examined across CC, BIACA and treatment as usual (TAU) in a series of multilevel models. CC and BIACA produced significantly greater improvements than TAU in caregiver-reported coping. Youth report did not reflect significant differences. Results show the efficacy of CC and BIACA in improving idiographic caregiver-, but not youth-, reported youth coping.

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256. O’Donnell S, Palmeter S, Laverty M, Lagacé C. Accuracy of administrative database algorithms for autism spectrum disorder, attention-deficit/hyperactivity disorder and fetal alcohol spectrum disorder case ascertainment: a systematic review. Health Promot Chronic Dis Prev Can;2022 (Sep);42(9):355-383.

INTRODUCTION: The purpose of this study was to perform a systematic review to assess the validity of administrative database algorithms used to identify cases of autism spectrum disorder (ASD), attention-deficit/hyperactivity disorder (ADHD) and fetal alcohol spectrum disorder (FASD). METHODS: MEDLINE, Embase, Global Health and PsycInfo were searched for studies that validated algorithms for the identification of ASD, ADHD and FASD in administrative databases published between 1995 and 2021 in English or French. The grey literature and reference lists of included studies were also searched. Two reviewers independently screened the literature, extracted relevant information, conducted reporting quality, risk of bias and applicability assessments, and synthesized the evidence qualitatively. PROSPERO CRD42019146941. RESULTS: Out of 48 articles assessed at full-text level, 14 were included in the review. No studies were found for FASD. Despite potential sources of bias and significant between-study heterogeneity, results suggested that increasing the number of ASD diagnostic codes required from a single data source increased specificity and positive predictive value at the expense of sensitivity. The best-performing algorithms for the identification of ASD were based on a combination of data sources, with physician claims database being the single best source. One study found that education data might improve the identification of ASD (i.e. higher sensitivity) in school-aged children when combined with physician claims data; however, additional studies including cases without ASD are required to fully evaluate the diagnostic accuracy of such algorithms. For ADHD, there was not enough information to assess the impact of number of diagnostic codes or additional data sources on algorithm accuracy. CONCLUSION: There is some evidence to suggest that cases of ASD and ADHD can be identified using administrative data; however, studies that assessed the ability of algorithms to discriminate reliably between cases with and without the condition of interest were lacking. No evidence exists for FASD. Methodologically higher-quality studies are needed to understand the full potential of using administrative data for the identification of these conditions.

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257. Ogourtsova T, Boychuck Z, O’Donnell M, Ahmed S, Osman G, Majnemer A. Telerehabilitation for Children and Youth with Developmental Disabilities and Their Families: A Systematic Review. Phys Occup Ther Pediatr;2022 (Aug 30):1-47.

AIM: To determine the level of evidence for the effectiveness of telerehabilitation against comparison interventions in improving child- and parent-related outcomes in children and youth with developmental disabilities. METHOD: A systematic approach, comprised of a comprehensive search; transparent study selection, data extraction, quality assessment by independent reviewers; and synthesis of sufficiently similar data (per diagnostic group, health profession, and overall level of evidence for each outcome) was undertaken. RESULTS: Fifty-five studies (29 randomized trials) were included across six diagnostic groups and ten health professions. Common telerehabilitation targets varied across diagnostic groups and included motor function, behavior, language, and parental self-efficacy. Telerehabilitation was found to be either more effective or as effective versus comparison intervention in improving 46.9% or 53.1% of outcomes, respectively. It was never found to be detrimental or less effective. Strong to moderate, limited, and insufficient levels of evidence were found for 36.5%, 24.5%, and 38.6% of the outcomes, respectively. CONCLUSION: There is sufficient evidence suggesting that telerehabilitation is a promising alternative when face-to-face care is limited. It is comparable to usual care and is more effective than no treatment. Blending in-person and telerehabilitation approaches could be beneficial for the post-pandemic future of rehabilitation in pediatric care.

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258. Orchard ER, Dakin SC, van Boxtel JJA. Internal noise measures in coarse and fine motion direction discrimination tasks and the correlation with autism traits. J Vis;2022 (Sep 2);22(10):19.

Motion perception is essential for visual guidance of behavior and is known to be limited by both internal additive noise (i.e., a constant level of random fluctuations in neural activity independent of the stimulus) and motion pooling (global integration of local motion signals across space). People with autism spectrum disorder (ASD) display abnormalities in motion processing, which have been linked to both elevated noise and abnormal pooling. However, to date, the impact of a third limit-induced internal noise (internal noise that scales up with increases in external stimulus noise)-has not been investigated in motion perception of any group. Here, we describe an extension on the double-pass paradigm to quantify additive noise and induced noise in a motion paradigm. We also introduce a new way to experimentally estimate motion pooling. We measured the impact of induced noise on direction discrimination, which we ascribe to fluctuations in decision-related variables. Our results are suggestive of higher internal noise in individuals with high ASD traits only on coarse but not fine motion direction discrimination tasks. However, we report no significant correlations between autism traits and additive noise, induced noise, or motion pooling in either task. We conclude that, under some conditions, the internal noise may be higher in individuals with pronounced ASD traits and that the assessment of induced internal noise is a useful way of exploring decision-related limits on motion perception, irrespective of ASD traits.

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259. Pagni BA, Walsh MJM, Ofori E, Chen K, Sullivan G, Alvar J, Monahan L, Guerithault N, Delaney S, Braden BB. Effects of age on the hippocampus and verbal memory in adults with autism spectrum disorder: Longitudinal versus cross-sectional findings. Autism Res;2022 (Aug 24)

Research studying aging in adults with autism spectrum disorder (ASD) is growing, but longitudinal work is needed. Autistic adults have increased risk of dementia, altered hippocampal volumes and fornix integrity, and verbal memory difficulties compared with neurotypical (NT) adults. This study examined longitudinal aging in middle-age adults with ASD versus a matched NT group, and compared findings with cross-sectional age effects across a broad adult age range. Participants were 194 adults with (n = 106; 74 male) and without (n = 88; 52 male) ASD, ages 18-71. Participants (n = 45; 40-70 age range) with two visits (2-3 years apart) were included in a longitudinal analysis. Hippocampal volume, fornix fractional anisotropy (FA), and verbal memory were measured via T1-weighted MRI, diffusion tensor imaging, and the Rey Auditory Verbal Learning Test, respectively. Longitudinal mixed models were used for hippocampal system variables and reliable change index categories were used for Auditory Verbal Learning Test analyses. Multivariate regression was used for cross-sectional analyses. Middle-age adults with ASD had greater longitudinal hippocampal volume loss and were more likely to show clinically meaningful decline in short-term memory, compared with NT. In contrast, cross-sectional associations between increasing age and worsening short-term memory were identified in NT, but not autistic adults. Reduced fornix FA and long-term memory in ASD were found across the broad cross-sectional age range. These preliminary longitudinal findings suggest accelerated hippocampal volume loss in ASD and slightly higher rates of clinically-meaningful decline in verbal short-term memory. Contradictory cross-sectional and longitudinal results underscore the importance of longitudinal aging research in autistic adults. LAY SUMMARY: Autistic adults have increased risk of dementia, differences in brain memory structures, and difficulty with memory compared with neurotypical (NT) adults. However, there are no publications that follow the same middle-age autistic adults over time to see how their brain and memory change. Our preliminary findings in a small middle-age autism sample suggest a key memory brain structure, the hippocampus, may shrink faster over 2-3 years compared with NT, and short-term memory may become more challenging for some. Across a broad adult range, autistic adults also had reduced integrity of connections to the hippocampus and greater challenges with long-term memory. In our larger sample across a broad age range, the results did not hint at this aforementioned pattern of accelerated aging. This underscores the importance of more aging research in autism, and especially research where people are followed over time.

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260. Palumbi R. Editorial: Metabolic profiles of autistic and typically developing children. Front Psychiatry;2022;13:1005521.

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261. Pan S, Wang X, Lin L, Chen J, Zhan X, Jin C, Ou X, Gu T, Jing J, Cai L. Association of sugar-sweetened beverages with executive function in autistic children. Front Nutr;2022;9:940841.

The association between sugar-sweetened beverages (SSBs) consumption and executive function (EF) among typically developing (TD) children has been investigated in previous studies but with inconsistent results. Furthermore, this relationship has been less investigated among autistic children who perform worse in EF compared with TD children. In this study, we aimed to investigate the association between SSB consumption and EF in autistic children, and whether the association between SSB and EF in autistic children is different from that in TD children. We recruited 106 autistic children and 207 TD children aged 6-12 years in Guangzhou, China. Children’s EF was assessed by using the Chinese version of parent-reported Behavior Rating Inventory of Executive Function, Stroop Color-Word Test, and working memory subscales of the Chinese version of Wechsler Intelligence Scale for children, Fourth edition. Meanwhile, we assessed children’s dietary intake and SSB consumption with a validated Food Frequency Questionnaire. In this study, 70 (66.0%) autistic children consumed SSB and 20 (18.9%) of them consumed more than two servings SSB a week. Among autistic children, over two servings per week SSB consumption was associated with poorer performance in emotional control [β = 7.20, 95% confidence interval (CI): 0.94-13.46] and plan/Organize (β = 6.45, 95% CI: 0.27-12.63). The association between over two servings/week SSB consumption and emotional control among autistic children was significantly different from that among TD children (β (ASD) = 7.20; β (TD) = -3.09, Z = 2.72, p = 0.006). Results of this study show that SSB consumption was associated with an impairment in some subscales of EF in autistic children. Furthermore, the association between SSB and EF in autistic children might be different from that in TD children.

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262. Panayotis N, Ehinger Y, Felix MS, Roux JC. State-of-the-art therapies for Rett syndrome. Dev Med Child Neurol;2022 (Sep 3)

Rett syndrome (RTT) is an X-linked neurogenetic disorder caused by mutations of the MECP2 (methyl-CpG-binding protein 2) gene. Over two decades of work established MeCP2 as a protein with pivotal roles in the regulation of the epigenome, neuronal physiology, synaptic maintenance, and behaviour. Given the genetic aetiology of RTT and the proof of concept of its reversal in a mouse model, considerable efforts have been made to design therapeutic approaches to re-express MeCP2. By being at the forefront of the development of innovative gene therapies, research on RTT is of paramount importance for the treatment of monogenic neurological diseases. Here we discuss the recent advances and challenges of promising genetic strategies for the treatment of RTT including gene replacement therapies, gene/RNA editing strategies, and reactivation of the silenced X chromosome.

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263. Park BY, Kebets V, Larivière S, Hettwer MD, Paquola C, van Rooij D, Buitelaar J, Franke B, Hoogman M, Schmaal L, Veltman DJ, van den Heuvel OA, Stein DJ, Andreassen OA, Ching CRK, Turner JA, van Erp TGM, Evans AC, Dagher A, Thomopoulos SI, Thompson PM, Valk SL, Kirschner M, Bernhardt BC. Multiscale neural gradients reflect transdiagnostic effects of major psychiatric conditions on cortical morphology. Commun Biol;2022 (Sep 27);5(1):1024.

It is increasingly recognized that multiple psychiatric conditions are underpinned by shared neural pathways, affecting similar brain systems. Here, we carried out a multiscale neural contextualization of shared alterations of cortical morphology across six major psychiatric conditions (autism spectrum disorder, attention deficit/hyperactivity disorder, major depression disorder, obsessive-compulsive disorder, bipolar disorder, and schizophrenia). Our framework cross-referenced shared morphological anomalies with respect to cortical myeloarchitecture and cytoarchitecture, as well as connectome and neurotransmitter organization. Pooling disease-related effects on MRI-based cortical thickness measures across six ENIGMA working groups, including a total of 28,546 participants (12,876 patients and 15,670 controls), we identified a cortex-wide dimension of morphological changes that described a sensory-fugal pattern, with paralimbic regions showing the most consistent alterations across conditions. The shared disease dimension was closely related to cortical gradients of microstructure as well as neurotransmitter axes, specifically cortex-wide variations in serotonin and dopamine. Multiple sensitivity analyses confirmed robustness with respect to slight variations in analytical choices. Our findings embed shared effects of common psychiatric conditions on brain structure in multiple scales of brain organization, and may provide insights into neural mechanisms of transdiagnostic vulnerability.

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264. Park-Cardoso J, Silva A. Insistence on sameness for food space appropriation: An exploratory study on Brazilians with autism (self-)diagnosis in adulthood. Autism;2022 (Sep 9):13623613221121417.

Insistence on sameness is common in autistic individuals and continues into adulthood. Research shows it may be a way to cope with environments because of their sensory sensitivity, intolerance to uncertainty, and anxiety. Understanding the reasons for insistence on sameness from the perspective of autistic adults is important. To study the meanings of insistence on sameness for autistic adults, we interviewed 16 Brazilian autistic adults. All 10 formally diagnosed participants were diagnosed in adulthood. Six participants identified as being on the autism spectrum without formal diagnosis. During the interviews by email, we first asked about participants’ experiences with autism diagnosis, either formal diagnosis or self-diagnosis. Then, we asked about their experiences in places for eating out and grocery shopping. We found they tended to always go to the same places and use protective accessories to eat or shop comfortably. But their such behaviors were considered weird habits, first by other people and later by themselves. While trying to control their weird habits because of social pressure, they often suffered anxiety and meltdowns. When they finally learned of their autism in adulthood, they began to better understand who they are and why they experience the environment differently from others. This new understanding taught them that their so-called weird habits are actually part of their authentically autistic ways to cope with the weirder world. This study suggests that autistic adults’ insistence on sameness is an authentically autistic way to exercise their right to comfortably co-exist and live as human beings and as themselves.

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265. Pawar M, Kasuhal D, Kakti A, Alshammari F, Alshammari MF, Dixit S, Alibrahim WY. Manual and Powered Toothbrushing Effectiveness on Autistic Children’s Oral Hygiene Status. J Pharm Bioallied Sci;2022 (Jul);14(Suppl 1):S837-S840.

BACKGROUND: Autistic children want a lot of help cleaning their teeth and they have a higher risk of periodontal disorder and less caries than the general public. The study’s purpose is to see how helpful manual and powered toothbrushing are for autistic kids aged 6-12 years. MATERIALS AND METHODS: A total of 40 autistic children aged 6-12 years were chosen at random from Mangalore city schools. The simplified oral hygiene index was used to determine the baseline oral health (OHI-S). Children were split into two classes during an oral review. Children in Group 1 received a manual toothbrush, and those in Group 2 received a powered toothbrush. Many of the children were given Colgate fluoride-free toothpaste. Under the guidance of care professionals, children were taught to brush for 3 min. They were taught to count from 1 to 20 when brushing each buccal and lingual section. The index was rechecked at the conclusion of the 1(st) month (30(th) day) and the next month (3(rd) month) (90(th) day). On the 60(th) day, the recently learned techniques were reinforced (end of the 2(nd) month). RESULT: In Group 1, a statistically significant reduction in mean OHI-S scores was observed in baseline versus 30 days and baseline versus 90 days, while in Group 2, a statistically highly significant reduction in baseline versus 30 days, baseline versus 90 days, and 30 days versus 90 days was observed. CONCLUSION: Furthermore, in autism children, powered teeth brushing shows potential. Long-term follow-up and greater sample size are, however, needed.

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266. Pellicano E, Fatima U, Hall G, Heyworth M, Lawson W, Lilley R, Mahony J, Stears M. A capabilities approach to understanding and supporting autistic adulthood. Nat Rev Psychol;2022 (Sep 5):1-16.

There is little comprehensive research into autistic adulthood, and even less into the services and supports that are most likely to foster flourishing adult autistic lives. This limited research is partly because autism is largely conceived as a condition of childhood, but this focus of research has also resulted from the orthodox scientific approach to autism, which conceptualizes autistic experience almost entirely as a series of biologically derived functional deficits. Approaching autism in this way severely limits what is known about this neurodevelopmental difference, how research is conducted and the services and supports available. In this Review, we adopt an alternative research strategy: we apply Martha Nussbaum’s capabilities approach, which focuses on ten core elements of a thriving human life, to research on autistic adulthood. In doing so, we identify areas where autistic adults thrive and where they often struggle, and highlight issues to which researchers, clinicians and policymakers should respond. The resulting picture is far more complex than conventional accounts of autism imply. It also reveals the importance of engaging autistic adults directly in the research process to make progress towards genuinely knowing autism and supporting flourishing autistic lives.

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267. Penton T, Bowling N, Vafeiadou A, Hammond C, Bird G, Banissy MJ. Attitudes to Interpersonal Touch in the Workplace in Autistic and non-Autistic Groups. J Autism Dev Disord;2022 (Sep 9)

Unemployment and underemployment have consistently been shown to be higher in autistic adults relative to non-autistic adults. This may be due, in part, to a lack of workplace accommodations being made for autistic people. One factor that may contribute to employment inequalities in autistic people is differences in attitudes towards interpersonal touch. This study acts as a preliminary investigation into whether employed autistic and non-autistic participants differ in their attitudes towards touch in the workplace, and in their loneliness and wellbeing. The current dataset was drawn from a larger online survey (the Touch Test) designed to explore attitudes and experiences towards touch. We found that employed autistic participants had more negative attitudes to general, social and workplace touch relative to non-autistic participants. Autistic participants also experienced greater loneliness and reduced wellbeing. Attachment-related anxiety was the only significant predictor of wellbeing in employed autistic adults. However, attachment-related anxiety, general attitudes to touch and the role of touch in the workplace predicted wellbeing in employed non-autistic adults. With regards to loneliness, general attitudes to touch and the role of touch in the workplace predicted loneliness in autistic participants. We also replicated the finding that a greater proportion of autistic participants were unemployed relative to non-autistic participants. Collectively, this research highlights the importance of considering touch in research investigating employment, and its impact on loneliness and wellbeing, in autistic participants.

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268. Peristeri E, Tsimpli IM. Disentangling Language Disorder and Bilingualism in Children with Developmental Language Disorder and Autism Spectrum Disorder: Evidence from Writing. J Autism Dev Disord;2022 (Sep 10)

Twenty-eight Albanian-Greek bilingual children with Developmental Language Disorder and 28 children with Autism Spectrum Disorder but no language impairment, along with 28 typically-developing, age-, Performance IQ- and socioeconomic status-matched bilingual children were asked to produce two expository texts which were coded for spelling (phonological, grammatical, orthographic) errors, stress and punctuation use. The children’s expressive vocabulary, current language use and home language history were also measured. The results show that the bilingual children with Developmental Language Disorder were particularly vulnerable to spelling errors, while their bilingual peers with Autism Spectrum Disorder were rather challenged by stress and punctuation. The evidence speaks in favor of distinct patterns of writing impairment across the bilingual children with Developmental Language Disorder and Autism Spectrum Disorder.

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269. Phunsawat P, Chiangjong W, Chutipongtanate S, Dumrongwongsiri O, Thommachot P, Butdawong W, Chuthapisith J. Folate receptor alpha autoantibodies in children with autism spectrum disorder. Biomarkers;2022 (Sep 27):1-5.

BACKGROUND: Recent research indicates that a number of children with autism generate folate receptor alpha autoantibodies (FRAA), which block transportation of folate across the blood-brain barrier, resulting in cerebral folate deficiency syndrome. Plasma FRAA detection permits precision diagnosis and potentially beneficial folinic acid treatment in FRAA-positive children with autism. OBJECTIVES: To investigate FRAA prevalence in Thai children with autism and evaluate the associations between FRAA-positive status, clinical symptom severity, and adaptive functioning. METHODS: FRAA level was determined in serum samples from 89 children with autism between 2 and 15 years (69 males, 20 females, mean age 7.9 years, SD 3.8). The Childhood Autism Rating Scale-Second Edition (CARS-2) and the Vineland Adaptive Behavior Scales (VABS) were used to evaluate clinical symptom severity and adaptive functioning, respectively. RESULTS: Of 89 children, 30 (33.7%) were FRAA-positive. FRAA-positive children with autism had significantly poorer mean VABS Adaptive Behavior Composite scores (p = 0.02) and Communication scores (p = 0.02) than FRAA-negative children with autism. There was no association between FRAA level and clinical symptom severity (CARS-2 score) (p = 0.09). CONCLUSIONS: The findings demonstrate the presence of FRAA in children with autism and that FRAA status is associated with poorer adaptive functioning.

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270. Piccoli E, Hollander E. Editor’s Commentary: Problematic Use of the internet in Autism Spectrum Disorder: A canary in the coal mine?. J Psychiatr Res;2022 (Sep 12);155:260-262.

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271. Pinna F, Paribello P, Somaini G, Corona A, Ventriglio A, Corrias C, Frau I, Murgia R, El Kacemi S, Galeazzi GM, Mirandola M, Amaddeo F, Crapanzano A, Converti M, Piras P, Suprani F, Manchia M, Fiorillo A, Carpiniello B. Mental health in transgender individuals: a systematic review. Int Rev Psychiatry;2022 (May-Jun);34(3-4):292-359.

Several lines of evidence indicate the prevalence of mental health disorders in Transgender (TG) individuals is higher than that of cisgender individuals or the general population. In this systematic review, we aim to propose a summary of some of the most significant research investigating mental health disorders’ prevalence among this population. We performed a double-blind systematic review using the Preferred Reporting Items for Systematic Reviews and Meta-analyses reporting (PRISMA) on PUBMED/MEDLINE and SCOPUS, specifically using peer-reviewed articles examining the mental health status of transgender (TG) individuals. This review did not exclude any research based on publication date. The last search was performed in February 2022. The employed search strategy led to the selection of 165 peer-reviewed articles. The majority of these papers presented a cross-sectional design with self-reported diagnoses and symptoms, signaling a significant prevalence of mental health disorders amongst TG Individuals. Of the reviewed articles, 72 examined the prevalence of mood and anxiety disorders; 8 examined eating disorders; 43 examined the prevalence of suicidal or self-harm ideation or behaviors; 5 papers examined the prevalence of trauma and stress-related disorders; 10 examined the frequency of personality disorders; 44 examined substance use disorders; and 9 papers examined the prevalence of autism spectrum disorder. Finally, 22 studies reported on the prevalence of TG individuals diagnosed with co-morbid mental health disorders or unspecified mental disorders. Our findings coincide with existing research, which indicates TG individuals do experience a higher prevalence of mental health disorders than that of the general population or cisgender individuals. However, further research is needed to address the existing gaps in knowledge.

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272. Pino MC, Vagnetti R, Tiberti S, Valenti M, Mazza M. Involving autism stakeholders in identifying priorities for interventions based on augmented reality. Disabil Rehabil Assist Technol;2022 (Sep 8):1-9.

PURPOSE: Literature supports the use of technological tools such as augmented reality, 3 D avatars and mobile devices to improve individuals with autism spectrum disorder skills. Possibilities of including these technological tools in intervention and the critical issues related to intervention design are essential research questions. The aim of the current work is to present an interdisciplinary research study on the design of an autism intervention considering these technologies. MATERIALS AND METHODS: This study used qualitative evidence and thematic analysis to identify the main design guidelines. A semi-structured interview was administered to a total of twenty participants representing four stakeholder categories: ASD, clinicians, therapists and caregivers. Interviews focussed on three dimensions related to user, technology and environment since they represent a complex system within which the individual using technology is situated. RESULTS: Thematic analysis of the interviews identified a total of 10 themes considered central to the design of the technological intervention. CONCLUSIONS: Since the application of technology in autism intervention is a relatively new area, the guidelines related to the potential incentives and barriers of the proposed technology are helpful to inform future treatment studies.Implications for RehabilitationThis study highlights the strengths and barriers associated with the use of smartphones and augmented reality in autism spectrum disorder interventions considering the dimensions within which the user using assistive technology is located.Strengths and major concerns that emerged are key points to consider during the development of the technological intervention.Considering these points can foster the use of technology within the intervention and promote its effectiveness.

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273. Pokorski EA, LeJeune LM. A Systematic Review of Maintenance Measurement in Early Childhood Autism Spectrum Disorder Research. Am J Intellect Dev Disabil;2022 (Jul 1);127(4):313-327.

Single case research designs (SCRDs) are integral to identifying evidence-based practices (EBPs) for young children with autism spectrum disorder (ASD); however, the field lacks guidance on measuring response maintenance within SCRDs. We identified 103 studies in which researchers used SCRD to investigate the maintenance of behavioral intervention outcomes for children with ASD ages 0-5. Findings include: (a) maintenance conditions across most EBP categories, (b) limited within-case replication of maintenance assessment, (c) inconsistent use of maintenance terminology, (d) varying frequencies of maintenance assessment, and (e) wide range in latency to first and last maintenance probe. Results indicate a pressing need for the regular inclusion of maintenance conditions in behavioral research to increase our understanding of programming for and assessing maintenance.

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274. Polzer L, Freitag CM, Bast N. Pupillometric measures of altered stimulus-evoked locus coeruleus-norepinephrine activity explain attenuated social attention in preschoolers with autism spectrum disorder. Autism Res;2022 (Sep 16)

Attenuated social attention has been described as a reduced preference for social compared to geometric motion in preschoolers with autism spectrum disorder (ASD). The locus coeruleus-norpinephrine (LC-NE) system modulates sensory reactivity and is a promising underlying mechanism. LC-NE activity is indexed by a stimulus-evoked pupillary response (SEPR) and partially by a luminance-adaptation pupillary response (LAPR), which were both shown to be aberrant in ASD. We examined whether SEPR and LAPR explain an attenuated social motion preference. We applied pupillometry via video-based eye tracking in young children (18-65 months) with ASD (n = 57) and typically developing (TD) children (n = 39) during a preferential looking paradigm of competing social and geometric motion and a changing light condition paradigm. We found an attenuated social motion preference in the ASD compared to the TD group. This was accompanied by atypical pupillometry showing a smaller SEPR to social motion, a larger SEPR to geometric motion and a reduced LAPR to a dark screen. SEPR but not LAPR explained the group difference in social motion preference. An ASD diagnosis was statistically predicted by the social motion preference, while this effect was mediated by the inclusion of SEPR to geometric and social motion. Our findings suggest a decreased sensory reactivity to social and increased reactivity to non-social motion in ASD, which may concurrently contribute to an attenuated social attention. The LC-NE system is supported as a promising underlying mechanism of altered social attention in young children with ASD, while the specificity of findings remains to be addressed.

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275. Pope L, Light J, Franklin A. Black Children With Developmental Disabilities Receive Less Augmentative and Alternative Communication Intervention Than Their White Peers: Preliminary Evidence of Racial Disparities From a Secondary Data Analysis. Am J Speech Lang Pathol;2022 (Sep 7);31(5):2159-2174.

PURPOSE: Ensuring equitable access to augmentative and alternative communication (AAC) intervention services for children with complex communication needs (CCN) is crucial. Evidence suggests that racial disparities exist in access to communication interventions, disadvantaging Black children. However, no research has investigated specifically the evidence for racial disparities in AAC services for children with developmental disabilities and CCN. METHOD: The current study applied post hoc data analysis methods within a preexisting, open-access data set to explore preliminary evidence of racial disparities in AAC intervention. Amount of AAC intervention was compared for Black versus white (1) preschool students at study initiation (M (age) = 3;8 [years;months]) and 2 years later at study completion (M (age) = 5;10). RESULTS: Black preschool students were reported to receive significantly less AAC intervention per week as compared to their white peers, both at study initiation and 2 years later. By study end, 75% of the Black children were receiving less than 60 min of AAC intervention per week, an inadequate amount to achieve meaningful gains given their significant disabilities. CONCLUSIONS: It is unclear what mechanisms may contribute to the observed disparities; however, it is critical that concrete steps are taken by individual speech-language pathologists, school districts, preservice preparation programs, and researchers to identify inequities in AAC services and take actions to rectify them. Future research is essential to investigate the potential factors contributing to inequalities and determine effective interventions to address them.

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276. Prager BC, Broder SM, Natowicz MR. A picture is worth a thousand words: A proposal to incorporate video into the evaluation of adults with intellectual or developmental disability living outside the home. Front Public Health;2022;10:887714.

Adults with intellectual or developmental disability (IDD) comprise 1-2% of the population worldwide. IDD is a significant risk factor for premature morbidity or mortality. This is likely due in part to preventable health conditions, which are modifiable with the intervention of direct care providers in areas including nutrition, promotion of an active lifestyle and effective identification of health or functional deterioration. Adults with IDD are also at increased risk for neglect or mistreatment, a finding that has been documented across multiple countries and in a variety of care settings. Contributing factors include resource availability, lack of person-centered care, management culture and care worker training. Practical and economical interventions may address the known disparities and challenges facing the large community of adults with IDD. To promote person-centered care, improve record-keeping/documentation, and aid in protecting the health and safety of this vulnerable population, we propose incorporation of a video into the evaluation of adults with IDD living outside the home.

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277. Presnell J, Keesler JM, Thomas-Giyer J. Assessing Alignment Between Intellectual and Developmental Disability Service Providers and Trauma-Informed Care: An Exploratory Study. Intellect Dev Disabil;2022 (Oct 1);60(5):351-368.

People with intellectual and developmental disabilities (IDD) are disproportionately impacted by potentially traumatic experiences; however, organizations serving this population have lagged in their integration of trauma-informed care (TIC). Trauma-informed care is a systemwide response to the pervasiveness of trauma that frequently requires an organizational shift rooted in staff training. Using an online statewide survey, the present study examined beliefs and training among IDD service providers. Responses from 288 service providers suggested some alignment among beliefs and staff training content with TIC principles. Although the findings indicate a foundation for TIC, intentional efforts are needed for IDD agencies to fully embrace TIC.

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278. Priyanka C, Rangasami R, Suresh I. Fetal Pontine Tegmental Cap Dysplasia- A Case Report. Neurol India;2022 (Jul-Aug);70(4):1652-1654.

Pontine tegmental cap dysplasia (PTCD) is a very rare hindbrain malformation recently described and the affected children show a bad prognosis. We present this case to increase the awareness of this rare condition and to highlight the importance of early prenatal diagnosis. A 25 years old female with 22 weeks gestation was referred after sonography for fetal magnetic resonance imaging (MRI) in the evaluation of cerebellar hypoplasia. Prenatal MRI confirmed cerebellar hypoplasia. Follow up postnatal MRI showed flattening of the ventral pons, beak-like tissue in the posterosuperior pons suggesting the diagnosis of PTCD. In retrospect the fetal MR images revealed features consistent with PTCD. To the best of our knowledge, this is the fifth prenatal case and with the earliest gestational age of 22 weeks.

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279. Profeta G, Micangeli G, Tarani F, Paparella R, Ferraguti G, Spaziani M, Isidori AM, Menghi M, Ceccanti M, Fiore M, Tarani L. Sexual Developmental Disorders in Pediatrics. Clin Ter;2022 (Sep-Oct);173(5):475-488.

Disorders of sex development (DSD) are a heterogeneous group of pathologies that result in an alteration in sex determination or differentiation. DSD are estimated to affect 1: 4,500 newborns and according to the 2006 Chicago Consensus classification, DSD can be divided into three categories: those with a 46 XX karyotype, those with a 46 XY karyotype and those relating to sex chromosomes. It is crucial to correctly identify the pathology already in the first days of life to direct the patient and his family to the best path of care. For this reason, the role of the pediatrician is fundamental in the correct identification of the clinical picture and in supporting the family during the long process that involves the management of these patients. To make a diagnosis, it is necessary to follow a path led by a multidisciplinary team that includes several steps such as the execution of the genetic analysis, the evaluation with diagnostic imaging methods and laboratory evaluations. The therapeutic management, on the other hand, is still very complex even if in recent years we have moved from an attitude of early gender reassignment to an approach of watchful waiting to let the patient choose when she/he is mature enough to do so, which gender she/he feels to belong. It should not be forgotten that throughout this process the pediatrician must be both supportive and clinically active in the management of the child and his family.

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280. Punt AM, Judson MC, Sidorov MS, Williams BN, Johnson NS, Belder S, den Hertog D, Davis CR, Feygin MS, Lang PF, Jolfaei MA, Curran PJ, van IWF, Elgersma Y, Philpot BD. Molecular and behavioral consequences of Ube3a gene overdosage in mice. JCI Insight;2022 (Sep 22);7(18)

Chromosome 15q11.2-q13.1 duplication syndrome (Dup15q syndrome) is a severe neurodevelopmental disorder characterized by intellectual disability, impaired motor coordination, and autism spectrum disorder. Chromosomal multiplication of the UBE3A gene is presumed to be the primary driver of Dup15q pathophysiology, given that UBE3A exhibits maternal monoallelic expression in neurons and that maternal duplications typically yield far more severe neurodevelopmental outcomes than paternal duplications. However, studies into the pathogenic effects of UBE3A overexpression in mice have yielded conflicting results. Here, we investigated the neurodevelopmental impact of Ube3a gene overdosage using bacterial artificial chromosome-based transgenic mouse models (Ube3aOE) that recapitulate the increases in Ube3a copy number most often observed in Dup15q. In contrast to previously published Ube3a overexpression models, Ube3aOE mice were indistinguishable from wild-type controls on a number of molecular and behavioral measures, despite suffering increased mortality when challenged with seizures, a phenotype reminiscent of sudden unexpected death in epilepsy. Collectively, our data support a model wherein pathogenic synergy between UBE3A and other overexpressed 15q11.2-q13.1 genes is required for full penetrance of Dup15q syndrome phenotypes.

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281. Purushotham SS, Reddy NMN, D’Souza MN, Choudhury NR, Ganguly A, Gopalakrishna N, Muddashetty R, Clement JP. A perspective on molecular signalling dysfunction, its clinical relevance and therapeutics in autism spectrum disorder. Exp Brain Res;2022 (Oct);240(10):2525-2567.

Intellectual disability (ID) and autism spectrum disorder (ASD) are neurodevelopmental disorders that have become a primary clinical and social concern, with a prevalence of 2-3% in the population. Neuronal function and behaviour undergo significant malleability during the critical period of development that is found to be impaired in ID/ASD. Human genome sequencing studies have revealed many genetic variations associated with ASD/ID that are further verified by many approaches, including many mouse and other models. These models have facilitated the identification of fundamental mechanisms underlying the pathogenesis of ASD/ID, and several studies have proposed converging molecular pathways in ASD/ID. However, linking the mechanisms of the pathogenic genes and their molecular characteristics that lead to ID/ASD has progressed slowly, hampering the development of potential therapeutic strategies. This review discusses the possibility of recognising the common molecular causes for most ASD/ID based on studies from the available models that may enable a better therapeutic strategy to treat ID/ASD. We also reviewed the potential biomarkers to detect ASD/ID at early stages that may aid in diagnosis and initiating medical treatment, the concerns with drug failure in clinical trials, and developing therapeutic strategies that can be applied beyond a particular mutation associated with ASD/ID.

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282. Qi X, Yang T, Chen J, Dai Y, Chen L, Wu L, Hao Y, Li L, Zhang J, Ke X, Yi M, Hong Q, Fang S, Wang Y, Wang Q, Jin C, Jia F, Li T. Vitamin D status is primarily associated with core symptoms in children with autism spectrum disorder: A multicenter study in China. Psychiatry Res;2022 (Aug 22);317:114807.

OBJECTIVE: We aimed to investigate the relationship between vitamin D status and core symptoms and neurodevelopmental levels in children with ASD with a multicenter survey. METHODS: We enrolled 1321 ASD children and 1279 typically developing (TD) children aged 2-7 years from 13 cities in China. ASD symptoms were assessed with the Autism Behavior Checklist (ABC), Social Responsiveness Scale (SRS) and Childhood Autism Rating Scale (CARS), and neurodevelopmental levels were evaluated with the Children Neuropsychological and Behavior Scale-Revision 2016 (CNBS-R2016). RESULTS: Children with ASD had lower serum 25(OH)D levels than TD children. Serum 25(OH)D levels were negatively associated with CARS and communication warning behavior of CNBS-R2016 scores, and were not associated with the development quotients of ASD children. ASD Children were grouped based on the quartiles for 25(OH)D levels in the controls, and children in the first to third quartiles had higher SRS social communication and/or CARS and communication warning behavior of CNBS-R2016 scores than those in the fourth quartile. CONCLUSIONS: Serum 25(OH)D levels were primarily associated with core symptoms in children with ASD, and individuals with relatively lower 25(OH)D levels displayed worse autistic symptomatology. More research is needed to determine whether vitamin D supplements would be a useful treatment for ASD.

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283. Qian C, Tei S, Itahashi T, Aoki YY, Ohta H, Hashimoto RI, Nakamura M, Takahashi H, Kato N, Fujino J. Intergroup bias in punishing behaviors of adults with autism spectrum disorder. Front Psychiatry;2022;13:884529.

Groups are essential elements of society, and humans, by nature, commonly manifest intergroup bias (i.e., behave more positively toward an ingroup member than toward an outgroup member). Despite the growing evidence of various types of altered decision-making in individuals with autism spectrum disorder (ASD), their behavior under the situation involving group membership remains largely unexplored. By modifying a third-party punishment paradigm, we investigated intergroup bias in individuals with ASD and typical development (TD). In our experiment, participants who were considered as the third party observed a dictator game wherein proposers could decide how to distribute a provided amount of money while receivers could only accept unconditionally. Participants were confronted with two different group situations: the proposer was an ingroup member and the recipient was an outgroup member (IN/OUT condition) or the proposer was an outgroup member and the recipient was an ingroup member (OUT/IN condition). Participants with TD punished proposers more severely when violating social norms in the OUT/IN condition than in IN/OUT condition, indicating that their decisions were influenced by the intergroup context. This intergroup bias was attenuated in individuals with ASD. Our findings deepen the understanding of altered decision-making and socioeconomic behaviors in individuals with ASD.

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284. Qiao J, Wang R, Liu H, Xu G, Wang Z. Brain disorder prediction with dynamic multivariate spatio-temporal features: Application to Alzheimer’s disease and autism spectrum disorder. Front Aging Neurosci;2022;14:912895.

The dynamic functional connectivity (dFC) in functional magnetic resonance imaging (fMRI) is beneficial for the analysis and diagnosis of neurological brain diseases. The dFCs between regions of interest (ROIs) are generally delineated by a specific template and clustered into multiple different states. However, these models inevitably fell into the model-driven self-contained system which ignored the diversity at spatial level and the dynamics at time level of the data. In this study, we proposed a spatial and time domain feature extraction approach for Alzheimer’s disease (AD) and autism spectrum disorder (ASD)-assisted diagnosis which exploited the dynamic connectivity among independent functional sub networks in brain. Briefly, independent sub networks were obtained by applying spatial independent component analysis (SICA) to the preprocessed fMRI data. Then, a sliding window approach was used to segment the time series of the spatial components. After that, the functional connections within the window were obtained sequentially. Finally, a temporal signal-sensitive long short-term memory (LSTM) network was used for classification. The experimental results on Alzheimer’s Disease Neuroimaging Initiative (ADNI) and Autism Brain Imaging Data Exchange (ABIDE) datasets showed that the proposed method effectively predicted the disease at the early stage and outperformed the existing algorithms. The dFCs between the different components of the brain could be used as biomarkers for the diagnosis of diseases such as AD and ASD, providing a reliable basis for the study of brain connectomics.

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285. Rabia A, Harripaul R, Mikhailov A, Mahmood S, Maqbool S, Vincent JB, Ayub M. Biallelic Loss of Function Mutation in Sodium Channel Gene SCN10A in an Autism Spectrum Disorder Trio from Pakistan. Genes (Basel);2022 (Sep 11);13(9)

The genetic dissection of autism spectrum disorders (ASD) has uncovered the contribution of de novo mutations in many single genes as well as de novo copy number variants. More recent work also suggests a strong contribution from recessively inherited variants, particularly in populations in which consanguineous marriages are common. What is also becoming more apparent is the degree of pleiotropy, whereby mutations in the same gene may have quite different phenotypic and clinical consequences. We performed whole exome sequencing in a group of 115 trios from countries with a high level of consanguineous marriages. In this paper we report genetic and clinical findings on a proband with ASD, who inherited a biallelic truncating pathogenic/likely pathogenic variant in the gene encoding voltage-gated sodium channel X alpha subunit, SCN10A (NM_006514.2:c.937G>T:(p.Gly313*)). The biallelic pathogenic/likely pathogenic variant in this study have different clinical features than heterozygous mutations in the same gene. The study of consanguineous families for autism spectrum disorder is highly valuable.

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286. Raghavan K, Dedeepiya VD, Yamamoto N, Ikewaki N, Sonoda T, Iwasaki M, Kandaswamy RS, Senthilkumar R, Preethy S, Abraham SJK. Benefits of Gut Microbiota Reconstitution by Beta 1,3-1,6 Glucans in Subjects with Autism Spectrum Disorder and Other Neurodegenerative Diseases. J Alzheimers Dis;2022 (Sep 6)

BACKGROUND: Aureobasidium pullulans (black yeast) AFO-202 strain-produced beta glucan, Nichi Glucan, has been shown to improve the behavior and sleep pattern along with an increase in α-synuclein and melatonin in children with autism spectrum disorder (ASD). OBJECTIVE: In this randomized pilot clinical study, we have evaluated the gut microbiota of subjects with ASD after consumption of Nichi Glucan. METHODS: Eighteen subjects with ASD were randomly allocated: six subjects in the control group (Group 1): conventional treatment comprising remedial behavioral therapies and L-carnosine 500 mg per day, and 12 subjects (Group 2) underwent supplementation with Nichi Glucan 0.5 g twice daily along with the conventional treatment for 90 days. RESULTS: Whole genome metagenome (WGM) sequencing of the stool samples at baseline and after intervention showed that among genera of relevance, the abundance of Enterobacteriaceae was decreased almost to zero in Group 2 after intervention, whereas it increased from 0.36% to 0.85% in Group 1. The abundance of Bacteroides increased in Group 1, whereas it decreased in Group 2. The abundance of Prevotella increased while the abundance of Lactobacillus decreased in both Group 1 and Group 2. Among species, a decrease was seen in Escherichia coli, Akkermansia muciniphila CAG:154, Blautia spp., Coprobacillus sp., and Clostridium bolteae CAG:59, with an increase of Faecalibacterium prausnitzii and Prevotella copri, which are both beneficial. CONCLUSION: AFO-202 beta 1,3-1,6 glucan, in addition to balancing the gut microbiome in children with ASD and its role in effective control of curli-producing Enterobacteriaceae that leads to α-synuclein misfolding and accumulation, may have a prophylactic role in Parkinson’s and Alzheimer’s diseases as well.

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287. Reetzke R, Singh V, Hong JS, Holingue CB, Kalb LG, Ludwig NN, Menon D, Pfeiffer DL, Landa RJ. Profiles and correlates of language and social communication differences among young autistic children. Front Psychol;2022;13:936392.

Delays in early language development are characteristic of young autistic children, and one of the most recognizable first concerns that motivate parents to seek a diagnostic evaluation for their child. Although early language abilities are one of the strongest predictors of long-term outcomes, there is still much to be understood about the role of language impairment in the heterogeneous phenotypic presentation of autism. Using a person-centered, Latent Profile Analysis, we first aimed to identify distinct patterns of language and social communication ability in a clinic-based sample of 498 autistic children, ranging in age from 18 to 60 months (M = 33 mo, SD = 12 mo). Next, a multinomial logistic regression analysis was implemented to examine sociodemographic and child-based developmental differences among the identified language and social communication profiles. Three clinically meaningful profiles were identified from parent-rated and clinician-administered measures: Profile 1 (48% of the sample) « Relatively Low Language and Social Communication Abilities, » Profile 2 (34% of the sample) « Relatively Elevated Language and Social Communication Abilities, » and Profile 3 (18% of the sample) « Informant Discrepant Language and Relatively Elevated Social Communication Abilities. » Overall, young autistic children from the lowest-resource households exhibited the lowest language and social communication abilities, and the lowest non-verbal problem-solving and fine-motor skills, along with more features of attention-deficit/hyperactivity disorder and atypical auditory processing. These findings highlight the need for effective community-based implementation strategies for young autistic children from low-resource households and underrepresented communities to improve access to individualized quality care.

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288. Reuben KE, Self-Brown S, Vinoski Thomas E. PTSD in autistic adults: Correlates of meeting DSM-5 criteria and predictors of professional diagnosis. Psychol Trauma;2022 (Sep 29)

OBJECTIVE: Although many autistic adults show high posttraumatic stress, PTSD is underdiagnosed in this population. This study aims to examine correlates of autistic adults screening positive for PTSD (PTSD +) and predictors of a professional PTSD diagnosis (Diagnosis +) in the PTSD + subgroup. METHOD: Self-identified autistic adults (N = 677) completed an online survey on their demographic characteristics, mental health symptoms, and trauma history. T tests and chi-squares were used to compare subgroups, and logistic regression was used to predict diagnosis status. RESULTS: PTSD + participants were less likely to be employed or to identify as cisgender men, had more mental health symptoms and worse functional impairment, and had experienced a higher number of traumas and more interpersonal trauma. The same was true for Diagnosis + participants, who were also older and more likely to have a marginalized racial/ethnic identity. Among participants who were PTSD +, older age, being a woman or gender minority, being unemployed or on disability, having increased posttraumatic stress, having more co-occurring conditions, and having lower functional impairment predicted being Diagnosis +. The final model explained 35% of variance in diagnosis. CONCLUSION: PTSD is associated with significant impairment in autistic adults, but it often goes unrecognized. In particular, autistic cisgender men might be underdiagnosed with PTSD because of gendered stereotypes. High functional impairment may also increase barriers to obtaining an appropriate diagnosis. Future research should include participant treatment history as a potential factor. Clinicians should be aware of these potential signs of PTSD and diagnostic barriers when working with autistic clients. (PsycInfo Database Record (c) 2022 APA, all rights reserved).

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289. Riccioni A, Siracusano M, Arturi L, Marcovecchio C, Postorino V, Gialloreti LE, Mazzone L. Developmental and Intelligence Quotient in Autism: A Brief Report on the Possible Long-Term Relation. Behav Sci (Basel);2022 (Aug 25);12(9)

Developmental level and cognitive skills assessment represents a crucial aspect in the delineation of the clinical phenotype and long-term outcomes of individuals with autism spectrum disorder (ASD). Nevertheless, the evaluation of cognitive development trajectory across a lifespan ranging from birth to school age appears challenging for clinicians and researchers, because of the lack of measures that coherently cover this timeframe. Thus, the main goal of this community-based study was to investigate within a sample of ASD children if the developmental quotient (DQ), evaluated through the Griffiths Mental Development Scales Extended Revised (GMDS-ER) scale, predicts the non-verbal brief intelligence quotient (IQ), measured through the Leiter-R at follow-up. The main observation of our study was a positive correlation between the level of DQ and nonverbal IQ at follow-up evaluations, highlighting that ASD children characterized by a greater developmental profile will later present higher non-verbal IQ.

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290. Ridley E, Arnott B, Riby DM, Burt DM, Hanley M, Leekam SR. The Quality of Everyday Eye Contact in Williams Syndrome: Insights From Cross-Syndrome Comparisons. Am J Intellect Dev Disabil;2022 (Jul 1);127(4):293-312.

Past research shows that individuals with Williams syndrome (WS) have heightened and prolonged eye contact. Using parent report measures, we examined not only the presence of eye contact but also its qualitative features. Study 1 included individuals with WS (n = 22, ages 6.0-36.3). Study 2 included children with different neurodevelopmental (ND) conditions (WS, autism spectrum condition, fragile X syndrome, attention-deficit/hyperactivity disorder) and children with neurotypical development (NT; n = 262, ages 4.0-17.11). Unusual eye contact features, including staring, were found in approximately half of the WS samples. However, other features such as brief glances were frequently found in WS and in all ND conditions, but not NT. Future research in ND conditions should focus on qualitative as well as quantitative features of eye contact.

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291. Ringold SM, McGuire RW, Jayashankar A, Kilroy E, Butera CD, Harrison L, Cermak SA, Aziz-Zadeh L. Sensory Modulation in Children with Developmental Coordination Disorder Compared to Autism Spectrum Disorder and Typically Developing Children. Brain Sci;2022 (Aug 31);12(9)

Developmental Coordination Disorder (DCD) is one of the least studied and understood developmental disorders. One area that has been minimally investigated in DCD is potential issues with sensory modulation. Further, in other neurodevelopmental disorders (e.g., autism spectrum disorder (ASD)) sensory modulation is related to many other challenges (e.g., social issues, repetitive behaviors, anxiety); however, such potential relationships in children with DCD have been largely unexplored. The purpose of this study is to explore sensory modulation differences in DCD and to understand the relationships between sensory modulation and social emotional measures, behavior, and motor skills in DCD in comparison to ASD and typically developing (TD) peers. Participants (aged 8-17) and their caregivers (DCD, N = 26; ASD, N = 57; and TD, N = 53) completed behavioral and clinical measures. The results indicated that 31% of the DCD group showed sensory modulation difficulties, with the DCD group falling between the ASD and TD groups. In the DCD group, sensory modulation was significantly associated with anxiety, empathic concern, repetitive behaviors, and motor skills. Data are compared to patterns seen in ASD and TD groups and implications for interventions are discussed.

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292. Rixon L, Hastings RP, Kovshoff H, Bailey T. Short Report: Outcomes for siblings associated with sub-groups of autistic children with intellectual disability identified by latent profile analysis. Res Dev Disabil;2022 (Nov);130:104337.

BACKGROUND: Recent research suggests that having a brother or sister with autism may contribute to increased positive or negative emotional or psychological impact on siblings. AIMS: To use a novel multidimensional data analysis method to further understand outcomes for siblings of autistic children. METHODS AND PROCEDURES: 318 siblings of children with a recorded autism diagnosis and an intellectual disability were included for latent profile analysis. Five variables (DBC disruptive and anxiety; VABS II communication, daily living, and socialization skills) were used to identify sub-groups of autistic children. Primary carers reported on sibling relationship quality (items from the Sibling Relationship Questionnaire warmth/closeness and conflict scales), and siblings’ behavioral and emotional problems. OUTCOMES AND RESULTS: The profile groups differed in their levels of ID coupled with disruptive behavior, emotional problems and adaptive skills. Profiles included a severe ID, low behavior and emotional problems and low adaptive skills group; a group with mild ID coupled with high adaptive skills and low emotional and behavioral problems; and a mild ID group with high emotional and behavioral problems. Conflict in the sibling relationship differed across the profile groups (F (4304) = 15.13, p < .001). CONCLUSIONS AND IMPLICATIONS: Siblings of autistic children with the highest support needs were reported to have the lowest conflict in their relationships. Conversely, siblings of the autistic children with the highest levels of externalizing behaviors and anxiety were reported to have the highest levels of conflict in the sibling relationship.

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293. Roestorf A, Howlin P, Bowler DM. Ageing and autism: A longitudinal follow-up study of mental health and quality of life in autistic adults. Front Psychol;2022;13:741213.

BACKGROUND: Poor mental health is known to adversely affect functional abilities, social isolation, and quality of life (QoL). It is, therefore, crucial to consider the long-term impacts of mental health conditions as autistic adults grow older. OBJECTIVES: To explore, in a group of community-based autistic adults, the extent of: (i) autistic traits, co-occurring physical and mental health conditions; (ii) age-related differences in those conditions, and changes over time; and (iii) their impact on everyday living and QoL. METHOD: About Sixty-eight autistic adults (aged 19-80 years) participated in the first study (T1); 49 participants from T1 took part in a follow-up at T2 (mean retest interval 2.4 years). Standardised self-report measures of autistic traits, mental health, and QoL were completed at both time points. RESULTS: Over two-thirds (71%) of autistic adult participants experienced at least one co-occurring condition, and over a third (37%) met the criteria for three or more co-occurring conditions. Mental and physical health difficulties were related to autistic traits and difficulties in everyday life and were consistent predictors of poor QoL at T1 and T2. CONCLUSION: Mental health difficulties in autism persisted into older age and did not improve over time. These findings have important implications for mental health provision for autistic adults in older age.

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294. Romaniuk A, Ward M, Henrikson B, Cochrane K, Theule J. Family Quality of Life Perceived by Mothers of Children with ASD and ADHD. Child Psychiatry Hum Dev;2022 (Sep 8):1-10.

Existing research has compared Family Quality of Life (FQOL) in autism spectrum disorder (ASD) populations and typically developing populations but has not yet explored differences in FQOL across ASD, attention-deficit/hyperactivity disorder (ADHD), and comorbid ASD and ADHD populations (ASD + ADHD). In the present study, 117 North American mothers of 92 sons and 25 daughters (ages 6-11) with ASD, ADHD, or ASD + ADHD completed an online survey exploring FQOL. An ANOVA failed to show group differences in overall FQOL, however, mothers of children with ASD + ADHD reported significantly lower family Emotional Well-being than mothers of children with ASD only. The results of this study provide insight into FQOL in families of children with ASD and/or ADHD. Greater research is needed in this area to understand how mothers of children with ASD, ADHD, or ASD + ADHD experience FQOL. The COVID-19 pandemic, which ran concurrent with this study, potentially influenced results.

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295. Romer S, Dickerson A, Wu Q. Driving Performance of Experienced Young Adult Drivers with and without Autism Spectrum Disorder While Listening to Music on Two Scenarios: Hazards versus Wayfinding. Occup Ther Health Care;2022 (Sep 16):1-18.

This study explored the effect of music on the driving performance of experienced young adult drivers with and without autism spectrum disorder (ASD) using an interactive driving simulator with two types of scenarios. A 2 (Group: autism/neurotypical) × 2 (Music: music/no music) × 2 (Scenario: hazards/wayfinding) factorial design was used with the order of scenarios and music conditions counterbalanced. Participants were 34 neurotypical drivers and 5 drivers with ASD, all with at least 3 years of driving experience. Paired sample t-tests demonstrated no effect of music for any condition. Overall, the drivers with ASD had higher performance means than the neurotypical group with significant differences in the wayfinding scenario and the category for following regulations. Neurotypical drivers had better performance on the wayfinding scenario than the hazard scenario in maneuvers and being attentive to the environment. Although this study had a low number of drivers with ASD, it suggests drivers with ASD can perform better than neurotypical drivers, possibly because they follow road rule guidelines more consistently than neurotypical peers. In addition, this is the first study to examine wayfinding skills in teens/young adults with and without ASD.

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296. Rong P, Zhao S, Fu Q, Chen M, Yang L, Song Y, Zhang X, Ma R. Case report: One child with an autism spectrum disorder who had chronically elevated serum levels of CK and CK-MB. Front Psychiatry;2022;13:995237.

Some patients with autism spectrum disorder (ASD) exhibit elevated serum creatine kinase levels, which are believed to be associated with mitochondrial dysfunction. Although a few articles have reported this situation in the past and the increase mostly ranges from 100 to 300 U/L, there is a paucity of previous study focusing on the serum creatine kinase MB isoenzyme. This article discusses a 5-year-old girl with ASD, whose serum creatine kinase and creatine kinase MB isoenzyme have been rising for nearly 2 years, fluctuating at 584-993 and 111-625 U/L respectively. Except for behavioral and language symptoms associated with ASD, the child appears normal in other aspects. The child’s laboratory tests showed no abnormality, except that the serum levels of lactic acid was slightly higher than normal (1.89 mmol/L, normal 1.33-1.78 mmol/L). The child was prescribed with a traditional Chinese medicine during the process and the serum creatine kinase MB isoenzyme level decreased dramatically to 111 U/L after the treatment. This study firstly recorded the serum creatine kinase levels and the MB isoenzyme in patients with autism spectrum disorder for nearly 2 years, indicating that patients with ASD may experience long-term increases in serum creatine kinase and creatine kinase MB isoenzyme, and that the traditional Chinese medicine decoction Xinfukang can temporarily reduce the serum creatine kinase MB isoenzyme level in patients. Nevertheless, the effect is not sustained. Therefore, it is of great importance to conduct long-term longitudinal studies so as to elucidate the potential mechanism responsible for long-term elevation of serum creatine kinase level.

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297. Rosen NE, Schiltz HK, Lord C. Sibling Influences on Trajectories of Maladaptive Behaviors in Autism. J Clin Med;2022 (Sep 12);11(18)

Siblings play an important role in the behavioral trajectories of individuals with autism spectrum disorder (ASD). While having siblings has been associated with positive outcomes in ASD, including stronger adaptive functioning, social and non-verbal communication, and theory of mind, little is known about the impact of siblings on more negative outcomes, such as maladaptive behaviors. To address this gap, the present longitudinal study tested sibling predictors of trajectories of maladaptive behaviors (e.g., teacher- and parent-reported hyperactivity, irritability, and social withdrawal) from childhood through early adulthood among individuals with ASD and non-spectrum delays. Multilevel models revealed that, while the mere presence of a sibling did not impact maladaptive behavior trajectories apart from teacher-reported hyperactivity, the diagnostic profile of the sibling (e.g., emotional/behavioral disorder, ASD, medical condition) emerged as an important predictor. Specifically, although findings varied across teacher and parent reports, more hyperactivity and irritability across time was identified when the sibling had diagnoses of an emotional/behavioral disorder, ASD, and/or a medical condition. Overall, this study provides novel insight into the broader family-level factors that influence the presentation of maladaptive behaviors across time and across contexts.

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298. Rubal S, Abhishek M, Rupa J, Phulen S, Kumar R, Kaur G, AmitRaj S, Jain A, Prakash A, Alka B, Bikash M. Homotaurine ameriolates the core ASD symptomatology in VPA rats through GABAergic signalling: Role of GAD67. Brain Res Bull;2022 (Sep 13)

Dysregulated GABAergic signaling is reported in Autism Spectrum disorder (ASD). In the present study, we evaluated a GABA structural mimicker homotaurine (HT) via in-silico docking and investigated the therapeutic efficacy of this drug to ameliorate ASD symptoms in the valproic acid (VPA) rat model of ASD. For the in-vivo study, animals were divided into two groups [Normal control (NC, 0.9% saline; i.p) and disease control (VPA 600mg/kg; i.p)] on gestational day (GD) 12.5. Male pups from VPA-exposed mothers were further divided into five groups (n=6 in each group): disease control (DC, no-further treatment), standard treatment (risperidone (RES) 2.5mg/kg; i.p, consecutively from PND 23-43), HT (10, 25 and 50mg/kg; i.p, consecutively from PND 23-43). In in-silico studies, the binding pattern of homotaurine to GABA-A receptor was found similar to GABA with Tyr205, Glu155, Tyr157, Arg6, and Thr 130 as shared residues. In the in-vivo phase, the early developmental parameters (from PND 7-23) and behavioral parameters (from PND 43-54) were assessed. The offspring of the VPA exposed group exhibited significant (p<0.05) developmental delays, behavioral deficits [decreased sociability and social novelty (three-chamber sociability test), spatial memory (Morris water maze), increased stereotypy (self-grooming)], increased oxidative stress (decreased GSH, SOD, Catalase, and increased MDA), increased pro-inflammatory (IL-1β, 6, TNF-α) and decreased anti-inflammatory (IL-10) cytokines, Purkinje cell loss in the cerebellum and pyknosis in PFC (H/E, Nissil staining) and decreased GAD67 expression in the cerebellum (RT-PCR & immunohistochemistry). Compared to the DC, HT treatment (50mg/kg) was able to ameliorate the aberrant core behavioral deficits, decreased oxidative stress, decreased pro-inflammatory and increased anti-inflammatory cytokine profile with preservation of the Purkinje cell density in the cerebellum, decreased pyknosis in the prefrontal cortex and normalised the expression of GAD67. Thus, HT can be a useful therapeutic agent in ASD and requires further clinical evaluation.

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299. Ruggieri V. [Autism. Neurobiological aspects]. Medicina (B Aires);2022 (Aug 30);82 Suppl 3:57-61.

Autism is a neurodevelopmental disorder with a neurobiological basis, characterized by a qualitative disturbance in social interaction and communication, associated with restricted interests and stereotyped behaviors. The genesis of autism cannot be interpreted through a single theory, and we can’t compartmentalize brain areas as the only ones responsible for it. Among the neurobiological bases we can include: deficit in the social reward system, which generates poor social initiative; dysfunctions and disorders of the amygdala and the mirror neuron system, related to compromised empathy and social cognition; abnormalities in the minicolumns related to hyper-systematization; persistent inflammatory phenomena of the central nervous system related to microglia; alterations of neuropeptides such as oxytocin, vasopressin and cortisol, which compromise socialization, and neuronal inhibition disorders, expressed in GABAergic dysfunctions in interneurons, linked to autistic behaviors, epilepsy and sensory phenomena. Understanding the neurobiological bases of autism is complex and there is no single explanation or specific biological marker. However, identifying processes related to social cognition, molecular, inflammatory, neuromodulation mechanisms and bases linked to sensory disorders are fundamental elements.

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300. Ruggieri V. [Autism throughout life]. Medicina (B Aires);2022 (Aug 30);82 Suppl 3:2-6.

Autism is a neurodevelopmental disorder characterized by deficits in social cognition and communication, restricted interests, and stereotyped behaviors. It is often associated with sensory dysfunctions, other neurodevelopmental disorders, neuropsychiatric disorders, epilepsy and/or sleep disorders. This condition will accompany people throughout their lives, with variations in its evolution. In the last ten years, only 1% of all autism research focused on developing post-secondary education programs and training in adult health services. Taking into account this dichotomy of interests, we must think about the different stages of life, such as early intervention, school inclusion, bullying, associated mental and medical disorders, lack of group belonging, job opportunities and the aging. Only by becoming aware of each of them can we achieve a better quality of life for people with autism and their families.

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301. Salinas-Roca B, Rubió-Piqué L, Montull-López A. Polyphenol Intake in Pregnant Women on Gestational Diabetes Risk and Neurodevelopmental Disorders in Offspring: A Systematic Review. Nutrients;2022 (Sep 11);14(18)

The intake of foods containing polyphenols can have a protective role to avoid comorbidities during pregnancy and, at the same time, promote transgenerational health. This review aims to describe the effect of polyphenol intake through supplements or polyphenol-rich foods during pregnancy on the incidence and evolution of gestational diabetes mellitus (GDM), as well as the link with the neurodevelopment of the fetus. Using PRISMA procedures, a systematic review was conducted by searching in biomedical databases (PubMed, Cinahl and Scopus) from January to June 2022. Full articles were screened (n = 419) and critically appraised. Fourteen studies were selected and were divided into two different thematic blocks considering (i) the effect of polyphenols in GDM and (ii) the effect of GDM to mental disorders in the offspring. A positive relationship was observed between the intake of polyphenols and the prevention and control of cardiometabolic complications during pregnancy, such as GDM, which could be related to thwarted inflammatory and oxidative processes, as well as neuronal factors. GDM is related to a greater risk of suffering from diseases related to neurodevelopment, such as attention deficit hyperactivity disorder, autism spectrum disorder and learning disorder. Further clinical research on the molecule protective mechanism of polyphenols on pregnant women is required to understand the transgenerational impact on fetal neurodevelopment.

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302. Salleh NS, Tang LY, Jayanath S, Lim Abdullah K. An Explorative Study of Affiliate Stigma, Resilience, and Quality of Life Among Parents of Children with Autism Spectrum Disorder (ASD). J Multidiscip Healthc;2022;15:2053-2066.

PURPOSE: Children diagnosed with ASD usually have impaired social functions, exhibit repetitive, stereotyped and self-stimulatory behaviors, which make them prone to be stigmatized by the public. However, stigma not only affects those with stigmatization characteristics such as children with ASD but also tends to include other people related to them including parents. This is called affiliate stigma. However, affiliate stigma is unlikely to occur if public awareness is high. Considering that awareness of ASD is still comparatively low in this region and that, as a review of the literature showed, there have been limited studies on stigma and ASD conducted in South-East Asia, particularly in Malaysia, this study is of great significance, especially in the context of the East and other developing countries. The aim of this study was to explore parents’ experiences of caring and perceptions of affiliate stigma, resilience and quality of life (QoL) when caring for a child with ASD. METHODS: This paper is part of the sequential explanatory mixed-methods study in which, after a cross-sectional study of 144 parents, a qualitative approach was used to explore parents’ experiences of caring and their perceptions of affiliate stigma, resilience, and QoL. Participants were recruited when they were accompanying their children to therapy at two tertiary public hospitals in one of the north-eastern states of Malaysia. Eleven parents of children with ASD aged 2-12 years participated. Qualitative data analysis followed Braun and Clarke’s methodology of thematic analysis. RESULTS: Four themes were identified: the meaning of QoL, ASD and life adjustment, perceived stigma, and resilience. CONCLUSION: This is the first Southeast Asian study on parent-perceived affiliate stigma, resilience, and QoL in the context of ASD. These findings can inform healthcare personnel and policymakers into day-to-day parenting realities and therefore an effort to coordinate support services across all disciplines could be made to improve outcomes for both parents and children.

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303. Schaaf RC, Mailloux Z, Ridgway E, Berruti AS, Dumont RL, Jones EA, Leiby BE, Sancimino C, Yi M, Molholm S. Sensory Phenotypes in Autism: Making a Case for the Inclusion of Sensory Integration Functions. J Autism Dev Disord;2022 (Sep 27)

Sensory features are part of the diagnostic criteria for autism and include sensory hypo/hyper reactivity and unusual sensory interest; however, additional sensory differences, namely differences in sensory integration, have not been routinely explored. This study characterized sensory integration differences in a cohort of children (n = 93) with a confirmed diagnosis of autism (5-9 years) using a standardized, norm-referenced battery. Mean z scores, autism diagnostic scores, and IQ are reported. Participants showed substantial deficits in tactile perception, praxis, balance, visual perception, and visual-motor skills. Relationship with autism diagnostic test scores were weak or absent. Findings suggest additional sensory difficulties that are not typically assessed or considered when characterizing sensory features in autism. These data have implications for a greater understanding of the sensory features in the autism phenotype and the development of personalized treatments.

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304. Schalock RL, Luckasson R, Tassé MJ, Shogren KA. The IDD Paradigm of Shared Citizenship: Its Operationalization, Application, Evaluation, and Shaping for the Future. Intellect Dev Disabil;2022 (Oct 1);60(5):426-443.

Changes in the field of intellectual and developmental disabilities (IDD) over the last 5 decades has resulted in the emergence of the shared citizenship paradigm. This paradigm is currently guiding the development of IDD-related policies and practices, and providing a framework for application, research-based inquiry, and evaluation. A shared citizenship paradigm is one that envisions, supports, and requires the engagement and full participation of people with IDD as equal, respected, valued, participatory, and contributing members of every aspect of society. The overall goals of the paradigm are to (a) further advance and focus on people with IDD as active agents in the change process, and (b) improve outcomes for people with IDD, including their access to and opportunity for shared citizenship. This article describes the paradigm’s operationalization, application, evaluation, shaping for the future, and specific strategies to overcome implementation challenges.

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305. Scharrenberg R, Richter M, Johanns O, Meka DP, Rücker T, Murtaza N, Lindenmaier Z, Ellegood J, Naumann A, Zhao B, Schwanke B, Sedlacik J, Fiehler J, Hanganu-Opatz IL, Lerch JP, Singh KK, de Anda FC. TAOK2 rescues autism-linked developmental deficits in a 16p11.2 microdeletion mouse model. Mol Psychiatry;2022 (Sep 19)

The precise development of the neocortex is a prerequisite for higher cognitive and associative functions. Despite numerous advances that have been made in understanding neuronal differentiation and cortex development, our knowledge regarding the impact of specific genes associated with neurodevelopmental disorders on these processes is still limited. Here, we show that Taok2, which is encoded in humans within the autism spectrum disorder (ASD) susceptibility locus 16p11.2, is essential for neuronal migration. Overexpression of de novo mutations or rare variants from ASD patients disrupts neuronal migration in an isoform-specific manner. The mutated TAOK2α variants but not the TAOK2β variants impaired neuronal migration. Moreover, the TAOK2α isoform colocalizes with microtubules. Consequently, neurons lacking Taok2 have unstable microtubules with reduced levels of acetylated tubulin and phosphorylated JNK1. Mice lacking Taok2 develop gross cortical and cortex layering abnormalities. Moreover, acute Taok2 downregulation or Taok2 knockout delayed the migration of upper-layer cortical neurons in mice, and the expression of a constitutively active form of JNK1 rescued these neuronal migration defects. Finally, we report that the brains of the Taok2 KO and 16p11.2 del Het mouse models show striking anatomical similarities and that the heterozygous 16p11.2 microdeletion mouse model displayed reduced levels of phosphorylated JNK1 and neuronal migration deficits, which were ameliorated upon the introduction of TAOK2α in cortical neurons and in the developing cortex of those mice. These results delineate the critical role of TAOK2 in cortical development and its contribution to neurodevelopmental disorders, including ASD.

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306. Schiavi S, Manduca A, Carbone E, Buzzelli V, Rava A, Feo A, Ascone F, Morena M, Campolongo P, Hill MN, Trezza V. Anandamide and 2-arachidonoylglycerol differentially modulate autistic-like traits in a genetic model of autism based on FMR1 deletion in rats. Neuropsychopharmacology;2022 (Sep 16)

Autism spectrum disorder (ASD) has a multifactorial etiology. Major efforts are underway to understand the neurobiological bases of ASD and to develop efficacious treatment strategies. Recently, the use of cannabinoid compounds in children with neurodevelopmental disorders including ASD has received increasing attention. Beyond anecdotal reports of efficacy, however, there is limited current evidence supporting such an intervention and the clinical studies currently available have intrinsic limitations that make the interpretation of the findings challenging. Furthermore, as the mechanisms underlying the beneficial effects of cannabinoid compounds in neurodevelopmental disorders are still largely unknown, the use of drugs targeting the endocannabinoid system remains controversial. Here, we studied the role of endocannabinoid neurotransmission in the autistic-like traits displayed by the recently validated Fmr1-(Δ)exon 8 rat model of autism. Fmr1-(Δ)exon 8 rats showed reduced anandamide levels in the hippocampus and increased 2-arachidonoylglycerol (2-AG) content in the amygdala. Systemic and intra-hippocampal potentiation of anandamide tone through administration of the anandamide hydrolysis inhibitor URB597 ameliorated the cognitive deficits displayed by Fmr1-(Δ)exon 8 rats along development, as assessed through the novel object and social discrimination tasks. Moreover, blockade of amygdalar 2-AG signaling through intra-amygdala administration of the CB1 receptor antagonist SR141716A prevented the altered sociability displayed by Fmr1-(Δ)exon 8 rats. These findings demonstrate that anandamide and 2-AG differentially modulate specific autistic-like traits in Fmr1-(Δ)exon 8 rats in a brain region-specific manner, suggesting that fine changes in endocannabinoid mechanisms contribute to ASD-related behavioral phenotypes.

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307. Schiltz HK, Fenning RM, Erath SA, Baker JK. Parasympathetic functioning and sleep problems in children with autism spectrum disorder. Autism Res;2022 (Sep 16)

Respiratory sinus arrhythmia (RSA), an index of parasympathetic nervous system activity, has been linked with sleep quality among children with neurotypical development. The current study extended examination of these processes to children with autism spectrum disorder (ASD), a group at considerable risk for sleep problems. Participants included 54 children with ASD (aged 6-10 years, 43% Hispanic). RSA data were collected via a wired MindWare system during a 3-min baseline and a 3-min challenge task. Parents reported on their children’s sleep problems and sleep duration using the Children’s Sleep Habits Questionnaire, Abbreviated. Although no significant correlations emerged between RSA indices and parent-reported child sleep, baseline RSA and RSA reactivity interacted in the prediction of sleep problems. For children with higher RSA reactivity, higher baseline RSA was associated with fewer sleep problems, but for children with lower RSA reactivity, baseline RSA was not predictive. No main effects or interactions of RSA predicted sleep duration. Findings suggest resilience against sleep problems for children with ASD presenting with higher baseline RSA and higher RSA reactivity. Implications of these results center upon directly targeting psychophysiology (i.e., parasympathetic nervous system regulation) as a possible mechanism to improve sleep in children with ASD, and developing personalized interventions based on physiological markers of risk and resilience. LAY SUMMARY: Children with autism spectrum disorder (ASD) often have difficulty sleeping, but contributing factors are not well understood. Findings suggest that certain psychophysiological tendencies thought to represent better overall arousal regulation and greater physiological reactivity to challenge may protect against sleep difficulties in children with ASD. Implications highlight the potential for targeting psychophysiological regulation as an avenue for reducing sleep problems.

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308. Shahrudin FA, Dzulkarnain AAA, Hanafi AM, Jamal FN, Basri NA, Sidek SN, Yusof HM, Khalid M. Music and Sound-Based Intervention in Autism Spectrum Disorder: A Scoping Review. Psychiatry Investig;2022 (Aug);19(8):626-636.

To map the evidence from the relevant studies regarding the use of music and sound-based intervention for autism spectrum disorder (ASD) using a scoping review study design. Scoping review was conducted according to the inclusion criteria using Google Scholar, PubMed, CINAHL, MEDLINE, and Scopus. The review was accomplished in five steps: 1) identify the inclusion criteria, 2) search for relevant studies, 3) studies selection, 4) data extraction and charting, and 5) data analysis and presentation. Four major themes emerged from 39 studies that matched the inclusion criteria as follows: 1) forms of sound therapy discussing methods of sound therapy and stimulus used, 2) duration of the intervention explain in terms of listening time and total listening sessions, 3) clinical characteristics of the intervention exploring the main interest of sound therapy study in ASD, and 4) evidence for the intervention effectiveness looking into the positive, negative, and mixed findings of previous studies. Each theme was explored to identify the knowledge gaps in sound-intervention therapy. This review demonstrated the need for further studies to address several issues including identifying the effectiveness of sound-therapy intervention for ASD according to the individual sound types, the minimum duration for ASD sound-therapy intervention and more details on the use of technology, and clinical features of the sound-therapy intervention. These elements are important to further demonstrate the effectiveness of sound therapy intervention for ASD children.

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309. Shalev I, Warrier V, Greenberg DM, Smith P, Allison C, Baron-Cohen S, Eran A, Uzefovsky F. Reexamining empathy in autism: Empathic disequilibrium as a novel predictor of autism diagnosis and autistic traits. Autism Res;2022 (Aug 20)

A large body of research showed that autistic people have intact emotional (affective) empathy alongside reduced cognitive empathy. However, there are mixed findings and these call for a more subtle understanding of empathy in autism. Empathic disequilibrium refers to the imbalance between emotional and cognitive empathy and is associated with a higher number of autistic traits in the typical population. Here we examined whether empathic disequilibrium predicts both the number of autistic traits and autism diagnosis. In a large sample of autistic (N = 1905) and typical individuals (N = 3009), we examined empathic disequilibrium and empathy as predictors of autistic traits and autism diagnosis, using a polynomial regression with response surface analysis. Empathy and autistic traits were measured using validated self-report questionnaires. Both empathic disequilibrium and empathy predicted linearly and non-linearly autism diagnosis and autistic traits. Specifically, a tendency towards higher emotional than cognitive empathy (empathic disequilibrium towards emotional empathy) predicted both autism diagnosis and the social domain of autistic traits, while higher cognitive than emotional empathy was associated with the non-social domain of autism. Empathic disequilibrium was also more prominent in autistic females. This study provides evidence that beyond empathy as was measured thus far, empathic disequilibrium offers a novel analytical approach for examining the role of empathy. Empathic disequilibrium allows for a more nuanced understanding of the links between empathy and autism.

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310. Shen W, Chen W, Lu J, Zhou H. [Analysis of clinical features and ADNP variant in a child with Helsmoortel-Van der Aa syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi;2022 (Sep 10);39(9):1001-1004.

OBJECTIVE: To analyze the clinical characteristics and genetic etiology of a child with Helsmoortel-Van der Aa syndrome (HVDAS). METHODS: Genetic testing was carried out for the child and his parents, and the clinical phenotypes and genetic variants of reported cases were summarized through literature review. RESULTS: The child has featured peculiar facies, accompanied by autism spectrum disorder, intellectual disability and motor retardation, and curving of the second toes, which was unreported previously. Genetic testing revealed that the child has harbored a heterozygous c.2157C>G (p.Tyr719*) variant of the ADNP gene, which was not found in either parent. Based on the guidelines of the American College of Medical Genetics and Genomics, this variant was rated as pathogenic. Among 80 HVDAS cases described in the literature, most had various degrees of behavioral abnormalities, intellectual disability, language retardation and motor retardation, with common features involving the nervous system, gastrointestinal system and eye. Variants of the ADNP gene mainly included frameshift variants and nonsense variants, with the hotspot variants including p.Tyr719*, p.Asn832lysfs*81 and p.Arg730*. CONCLUSION: The clinical phenotype of the child is closely correlated with the heterozygous variant of the ADNP gene, which expanded the phenotypic spectrum of HVDAS. As HVDAS may involve multiple systems and have high phenotypic heterogeneity, genetic testing technology can facilitate accurately diagnose.

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311. Shen Y, Li N, Sun S, Dong L, Wang Y, Chang L, Zhang X, Wang F. Non-invasive, targeted, and non-viral ultrasound-mediated brain-derived neurotrophic factor plasmid delivery for treatment of autism in a rat model. Front Neurosci;2022;16:986571.

Autism has clinical manifestations such as social interaction disorder, speech and intellectual development disorder, narrow interest range, and stereotyped and repetitive behavior, all of which bring considerable economic and mental burden to society and families, and represent a public health problem requiring urgent attention. Brain-derived neurotrophic factor (BDNF) plays an important role in supporting survival, differentiation, growth, and synapse formation of neurons and participates in the plasticity of nerves. However, it is difficult for BDNF to penetrate the blood-brain barrier (BBB) due to its large molecular weight. Low-frequency focused ultrasound (FUS) combined with microbubbles (MBs) has been demonstrated to be a promising method for opening the BBB non-invasively, transiently, and locally. Here, we studied the therapeutic effect of FUS combined with BDNF plasmid-loaded cationic microbubbles (BDNFp-CMBs) in a rat model of autism. BDNF-CMBs were prepared and the transfection efficiency of FUS combined with BDNF-CMBs was tested in vitro. A rat model of autism was established from the juvenile male offspring of Sprague-Dawley (SD) pregnant rats treated with sodium valproate (VPA) solution through intraperitoneal injection. The autism rats were randomized into three groups: the VPA group, which received no treatment, the BDNFp group, which was treated by injection of BDNFp, and the FUS + BDNFp-CMBs group, which was administered FUS combined with BDNFp-CMBs. Age-matched normal rats served as the control group (Con). Following treatment, stereotyped, exploratory, and social-behavioral tests were performed on the animals in each group. The rat brains were then collected for subsequent histological examination, and the changes in synaptic structures in the prefrontal cortex (PFC) were detected under transmission electron microscopy. The results showed that the constructed BDNFp could be loaded onto CMBs with high loading efficiency. The BDNFp-CMBs prepared in this study showed good stability in vivo. FUS combined BDNFp-CMBs could effectively and non-invasively open the BBB of rats. The stereotyped, exploratory, and social behaviors of the FUS + BDNFp-CMBs group were significantly improved. Compared to the VPA group, the abnormality of neuronal morphology and number in the PFC of the FUS + BDNFp-CMBs was alleviated to a certain extent and was accompanied by restoration of the damaged synapses in the encephalic region. Our work demonstrates the positive therapeutic effect of BDNF delivered by FUS non-invasively across the BBB into the PFC in a rat model of autism, offering a potential strategy for treating autism.

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312. Shtayermman O, Fletcher J. Predictors of Suicide Attempts of Individuals with Autism and Their Siblings. Nurs Res Pract;2022;2022:9157365.

The occurrence of mood- and anxiety-related conditions among family members of individuals diagnosed with autism spectrum disorder (ASD) increases the risk of suicide attempts and has also created assessment and treatment issues for clinicians and parents. Recorded rates of mental health disorders comorbid with suicide attempts among individuals on the spectrum range from 29% to 52%. The purpose of this study was to investigate the presence of predictors of suicide attempts among sibling dyads (pairs of siblings in which one sibling is on the autism spectrum). Growing evidence in the literature indicates a link between a diagnosis of autism and mental health. A web-based survey was used to collect data from individuals on the spectrum and their siblings. A sample of 144 individuals was finalized for the analyses. Logistic regression analysis was conducted to assess the predictors of suicide attempts in the sample. Depression, anxiety, sexual orientation, and marital status were all used as predictors in the logistic regression analyses. Both levels of anxiety and sexual orientation were found to be significant predictors for suicide attempts. Recommendations for future research, assessment, and treatment are presented.

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313. Shuleski K, Zalles L, Lozano R. Exploring Parents’ Concerns Regarding Long-Term Support and Living Arrangements for Their Children with Fragile X Syndrome. Genes (Basel);2022 (Sep 15);13(9)

Given limited data regarding future planning specific to Fragile X Syndrome (FXS) individuals and the growing population of individuals within this community, this study sought to explore the concerns and challenges caregivers of individuals affected by FXS encounter when considering long-term support plans. This involved identifying the reasons individuals with FXS continue to reside with family and the reservations caregivers have regarding future supports and living arrangements. We administered an anonymous online survey consisting of 34 questions assessing eligibility, living arrangements/supports, and future concerns. We found that most individuals with FXS were affected with moderate Intellectual and Developmental Disabilities (IDD) and co-occurring behavioral conditions but had overall good health. The majority of individuals with FXS currently resided with family due to parental desire, their own desire, and the inability to live independently. For one-third of caregivers, the plan for future living arrangements is to continue residing with family members long-term. A large proportion of caregivers had not considered alternative arrangements or were unsure. More than 70% of caregivers of individuals with FXS are concerned about multiple aspects of the individual’s future. Caregivers of younger individuals are the most concerned, but also believe they have time before they need to plan or are unable to currently assess the future need for support.

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314. Shurtz L, Schwartz C, DiStefano C, McPartland JC, Levin AR, Dawson G, Kleinhans NM, Faja S, Webb SJ, Shic F, Naples AJ, Seow H, Bernier RA, Chawarska K, Sugar CA, Dziura J, Senturk D, Santhosh M, Jeste SS. Concomitant medication use in children with autism spectrum disorder: Data from the Autism Biomarkers Consortium for Clinical Trials. Autism;2022 (Sep 9):13623613221121425.

Children with autism spectrum disorder are prescribed a variety of medications that affect the central nervous system (psychotropic medications) to address behavior and mood. In clinical trials, individuals taking concomitant psychotropic medications often are excluded to maintain homogeneity of the sample and prevent contamination of biomarkers or clinical endpoints. However, this choice may significantly diminish the clinical representativeness of the sample. In a recent multisite study designed to identify biomarkers and behavioral endpoints for clinical trials (the Autism Biomarkers Consortium for Clinical Trials), school-age children with autism spectrum disorder were enrolled without excluding for medications, thus providing a unique opportunity to examine characteristics of psychotropic medication use in a research cohort and to guide future decisions on medication-related inclusion criteria. The aims of the current analysis were (1) to quantify the frequency and type of psychotropic medications reported in school-age children enrolled in the ABC-CT and (2) to examine behavioral features of children with autism spectrum disorder based on medication classes. Of the 280 children with autism spectrum disorder in the cohort, 42.5% were taking psychotropic medications, with polypharmacy in half of these children. The most commonly reported psychotropic medications included melatonin, stimulants, selective serotonin reuptake inhibitors, alpha agonists, and antipsychotics. Descriptive analysis showed that children taking antipsychotics displayed a trend toward greater overall impairment. Our findings suggest that exclusion of children taking concomitant psychotropic medications in trials could limit the clinical representativeness of the study population, perhaps even excluding children who may most benefit from new treatment options.

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315. Silver H, Rosselot H, Shaffer R, Lozano R. The Impact of the COVID-19 Pandemic on School-Aged Children with Fragile X Syndrome. Genes (Basel);2022 (Sep 17);13(9)

The pandemic caused by the spread of the coronavirus disease (COVID-19), beginning in early 2020, had an impact beyond anything experienced in recent history. People with Fragile X Syndrome (FXS), the leading known heritable cause of ASD and intellectual disability, were uniquely vulnerable to pandemic-related changes. This study surveyed parent perspectives of the impact on 33 school-aged children with FXS across daily living skills, education, therapies, behaviors, health visits, and mask wearing. Academic performance was perceived to have decreased in most of the children (58%). Students in online school had the most reports of decline and those in person had the most reported improvement. Parents were significantly more satisfied with services that remained in person compared to those delivered online or in hybrid settings. Additionally, depression (75%), sleep problems (80%), attention problems (73%), and social skills (61%) were reported to have worsened the most. Parents reported that in addition to continuing with a structured schedule, the most helpful strategies were increasing face-to-face social interactions and outdoor activities. Future research should explore strategies to help online interventions and education to be more successful with individuals with FXS, given this may become a resource for families not geographically able to access in-person resources.

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316. Singh J, Fiori F, Law ML, Ahmed R, Ameenpur S, Basheer S, Chishti S, Lawrence R, Mastroianni M, Mosaddegh A, Santosh P. Development and Psychometric Properties of the Multi-System Profile of Symptoms Scale in Patients with Rett Syndrome. J Clin Med;2022 (Aug 30);11(17)

Background: Rett Syndrome (RTT) is a rare, neurodevelopmental disorder characterised by a range of problematic symptoms. There is yet to be a robust instrument to adequately capture the range of disease severity across the lifespan. In this study, we aimed to develop and assess the validity of an RTT-specific electronic Observer Reported Outcome (eObsRO), the Multi-System Profile of Symptoms Scale (MPSS). Methods: The study was conducted in two phases. Phase 1 consisted of a systematic literature review, focus groups, expert feedback, and a pilot test of the new scale. Modifications were made based on preliminary analysis and feedback collected in the pilot phase. Phase 2 consisted of the validation of the questionnaire based on two samples (Sample 1, n = 18; Sample 2, n = 106). Participants were all parents or caregivers of individuals with RTT. Results: The MPSS consists of 12 validated sub-scales (mental health problems, autonomic problems, cardiac problems, communication problems, problems in social behaviour, problems in engagement, gastrointestinal problems, problems in motor skills, neurological problems, orofacial problems, respiratory problems, and sleep problems), which explore symptom frequency in the past month and a supplement to the scale consisting of five sub-scales (sensory problems, immune dysfunction and infection, endocrine problems, skeletal problems, and dermatological problems), which is designed to capture symptom changes over a longer time period. The frequency of symptoms was rated on a 10-point slider scale, which then was automatically transformed into a 0 to 5 Likert score. All 12 sub-scales showed strong internal consistency (α ≥ 0.700) and good stability, ranging from 0.707 to 0.913. Pearson’s correlation showed a statistically significant (r = 0.649) correlation between the MPSS and the Rett Syndrome Behaviour Questionnaire (RSBQ) total score and significant correlations between sub-scales with items that were presented in both the MPSS and RSBQ. Conclusions: The MPSS is a psychometrically validated eObsRO using the HealthTracker(TM) platform and has the potential to be used in clinical trials.

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317. Siyam N, Abdallah S. Toward automatic motivator selection for autism behavior intervention therapy. Univers Access Inf Soc;2022 (Sep 16):1-23.

Children with autism spectrum disorder (ASD) usually show little interest in academic activities and may display disruptive behavior when presented with assignments. Research indicates that incorporating motivational variables during interventions results in improvements in behavior and academic performance. However, the impact of such motivational variables varies between children. In this paper, we aim to address the problem of selecting the right motivator for children with ASD using reinforcement learning by adapting to the most influential factors impacting the effectiveness of the contingent motivator used. We model the task of selecting a motivator as a Markov decision process problem. The states, actions and rewards design consider the factors that impact the effectiveness of a motivator based on applied behavior analysis as well as learners’ individual preferences. We use a Q-learning algorithm to solve the modeled problem. Our proposed solution is then implemented as a mobile application developed for special education plans coordination. To evaluate the motivator selection feature, we conduct a study involving a group of teachers and therapists and assess how the added feature aids the participants in their decision-making process of selecting a motivator. Preliminary results indicated that the motivator selection feature improved the usability of the mobile app. Analysis of the algorithm performance showed promising results and indicated improvement of the recommendations over time.

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318. Smith J, Rabba AS, Cong L, Datta P, Dresens E, Hall G, Heyworth M, Lawson W, Lee P, Lilley R, Syeda N, Ma E, Wang J, Wang R, Yeow C, Pellicano E. They were Saying that I was a ‘typical Chinese mum’: Chinese Parents’ Experiences of Parent-Teacher Partnerships for Their Autistic Children. J Autism Dev Disord;2022 (Sep 23):1-13.

Effective parent-teacher partnerships improve outcomes for autistic students. Yet, we know little about what effective partnerships look like for parents of autistic children from different backgrounds. We conducted interviews with 17 Chinese parents of autistic children attending Australian kindergartens/schools to understand their experiences. Parents appreciated the acceptance, opportunities and supports they received in Australia. They had high expectations of children; expectations not often shared by educators. Parents were respectful of teachers’ expertise and polite and undemanding in interactions. Nevertheless, parents were frustrated by inconsistent teaching quality and inadequate communication. Navigating systems was also challenging and parents faced discrimination from teachers and their community. Recommendations include fostering open home-school communication, proactively seeking parents’ expertise about children and explicitly scaffolding parents’ self-advocacy.

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319. Smith JR, DiSalvo M, Green A, Ceranoglu TA, Anteraper SA, Croarkin P, Joshi G. Treatment Response of Transcranial Magnetic Stimulation in Intellectually Capable Youth and Young Adults with Autism Spectrum Disorder: A Systematic Review and Meta-Analysis. Neuropsychol Rev;2022 (Sep 26)

To examine current clinical research on the use of transcranial magnetic stimulation (TMS) in the treatment of pediatric and young adult autism spectrum disorder in intellectually capable persons (IC-ASD). We searched peer-reviewed international literature to identify clinical trials investigating TMS as a treatment for behavioral and cognitive symptoms of IC-ASD. We identified sixteen studies and were able to conduct a meta-analysis on twelve of these studies. Seven were open-label or used neurotypical controls for baseline cognitive data, and nine were controlled trials. In the latter, waitlist control groups were often used over sham TMS. Only one study conducted a randomized, parallel, double-blind, and sham controlled trial. Favorable safety data was reported in low frequency repetitive TMS, high frequency repetitive TMS, and intermittent theta burst studies. Compared to TMS research of other neuropsychiatric conditions, significantly lower total TMS pulses were delivered in treatment and neuronavigation was not regularly utilized. Quantitatively, our multivariate meta-analysis results report improvement in cognitive outcomes (pooled Hedges’ g = 0.735, 95% CI = 0.242, 1.228; p = 0.009) and primarily Criterion B symptomology of IC-ASD (pooled Hedges’ g = 0.435, 95% CI = 0.359, 0.511; p < 0.001) with low frequency repetitive TMS to the dorsolateral prefrontal cortex. The results of our systematic review and meta-analysis data indicate that TMS may offer a promising and safe treatment option for pediatric and young adult patients with IC-ASD. However, future work should include use of neuronavigation software, theta burst protocols, targeting of various brain regions, and robust study design before clinical recommendations can be made.

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320. Sparaci L, Formica D, Lasorsa FR, Raiano L, Venuti P, Capirci O. New Methods for Unraveling Imitation Accuracy Differences Between Children with Autism and Typically Developing Peers. Percept Mot Skills;2022 (Sep 23):315125221126215.

This study applies methods used in sign language and gesture research to better understand reduced imitation accuracy (IA) of actions and gestures in children with autism spectrum disorder (ASD), and we addressed contrasting theories on IA in ASD and the role of objects and meanings in imitation. Eight male children with ASD with a mean chronological age (CA) of 86.76 months (SD = 10.74, range 70.5-104.4) and 22 male and female peers with typical development (TD) and a mean CA of 85.44 months (SD = 7.95, range 73.4-96.7) imitated videos of an adult performing actions with objects, representational gestures, conventional gestures and meaningless gestures. We measured accuracy as ability to effectively reproduce features (handshape, palm orientation, location, movement direction and type) and timing (speed) of observed actions/gestures, after ruling out cases of specular (i.e., mirror-like) versus anatomical imitation. Results highlighted significantly lower feature and timing accuracy in children with ASD with respect to the TD group across tasks, and these findings supported sensory-motor theories of IA in ASD. Our data also showed the different impact of objects and meanings within groups. Overall, these results suggest validity to our assessment method and suggested the importance of considering both discreet variables (i.e., variables describing action/gesture feature accuracy, e.g. handshape, movement direction) and continuous variables (i.e., kinematic variables, e.g. speed) in evaluating IA in autism.

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321. Streatch E, Bruno N, Latimer-Cheung AE. Investigating Strategies Used to Foster Quality Participation in Recreational Sport Programs for Children With Autism Spectrum Disorder and Their Perceived Importance. Adapt Phys Activ Q;2022 (Sep 22):1-19.

Quality experiences in sport programming for children with autism spectrum disorder (ASD) can promote physical and psychosocial benefits and long-term quality participation (QP). Unfortunately, children with ASD often experience sport participation barriers and, consequently, participate less in sport compared with children without disabilities. This study investigated QP priorities and strategies that could foster QP for children with ASD. Caregivers (n = 13), volunteers (n = 26), and staff (n = 14) involved in sport programming for children with ASD rated experiential elements of QP using the Measure of Experiential Aspects of Participation. In addition , a two-round Delphi survey with staff (Round 1: n = 11; Round 2: n = 13) generated 22 strategies for promoting QP-each rated highly with regard to importance (5.69-6.85 on a 7-point scale). Strategies were substantiated with published research evidence. Findings informed the development of a QP tool designed to help instructors implement identified strategies in hopes of improving sport experiences for children with ASD.

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322. Susco SG, Ghosh S, Mazzucato P, Angelini G, Beccard A, Barrera V, Berryer MH, Messana A, Lam D, Hazelbaker DZ, Barrett LE. Molecular convergence between Down syndrome and fragile X syndrome identified using human pluripotent stem cell models. Cell Rep;2022 (Sep 6);40(10):111312.

Down syndrome (DS), driven by an extra copy of chromosome 21 (HSA21), and fragile X syndrome (FXS), driven by loss of the RNA-binding protein FMRP, are two common genetic causes of intellectual disability and autism. Based upon the number of DS-implicated transcripts bound by FMRP, we hypothesize that DS and FXS may share underlying mechanisms. Comparing DS and FXS human pluripotent stem cell (hPSC) and glutamatergic neuron models, we identify increased protein expression of select targets and overlapping transcriptional perturbations. Moreover, acute upregulation of endogenous FMRP in DS patient cells using CRISPRa is sufficient to significantly reduce expression levels of candidate proteins and reverse 40% of global transcriptional perturbations. These results pinpoint specific molecular perturbations shared between DS and FXS that can be leveraged as a strategy for target prioritization; they also provide evidence for the functional relevance of previous associations between FMRP targets and disease-implicated genes.

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323. Syding LA, Kubik-Zahorodna A, Nickl P, Novosadova V, Kopkanova J, Kasparek P, Prochazka J, Sedlacek R. Generation and Characterization of a Novel Angelman Syndrome Mouse Model with a Full Deletion of the Ube3a Gene. Cells;2022 (Sep 9);11(18)

Angelman syndrome (AS) is a neurodevelopmental disorder caused by deficits in maternally inherited UBE3A. The disease is characterized by intellectual disability, impaired motor skills, and behavioral deficits, including increased anxiety and autism spectrum disorder features. The mouse models used so far in AS research recapitulate most of the cardinal AS characteristics. However, they do not mimic the situation found in the majority of AS patients who have a large deletion spanning 4-6 Mb. There is also a large variability in phenotypes reported in the available models, which altogether limits development of therapeutics. Therefore, we have generated a mouse model in which the Ube3a gene is deleted entirely from the 5′ UTR to the 3′ UTR of mouse Ube3a isoform 2, resulting in a deletion of 76 kb. To investigate its phenotypic suitability as a model for AS, we employed a battery of behavioral tests directed to reveal AS pathology and to find out whether this model better mirrors AS development compared to other available models. We found that the maternally inherited Ube3a-deficient line exhibits robust motor dysfunction, as seen in the rotarod and DigiGait tests, and displays abnormalities in additional behavioral paradigms, including reduced nest building and hypoactivity, although no apparent cognitive phenotype was observed in the Barnes maze and novel object recognition tests. The AS mice did, however, underperform in more complex cognition tasks, such as place reversal in the IntelliCage system, and exhibited a different circadian rhythm activity pattern. We show that the novel UBE3A-deficient model, based on a whole-gene deletion, is suitable for AS research, as it recapitulates important phenotypes characteristic of AS. This new mouse model provides complementary possibilities to study the Ube3a gene and its function in health and disease as well as possible therapeutic interventions to restore function.

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324. Szlamka Z, Hanlon C, Tekola B, Pacione L, Salomone E, Servili C, Hoekstra RA. Exploring contextual adaptations in caregiver interventions for families raising children with developmental disabilities. PLoS One;2022;17(9):e0272077.

There are increasing efforts to scale up services globally for families raising children with developmental disabilities (DDs). Existing interventions, often developed in high income, Western settings, need substantial adaptation before they can be implemented in different contexts. The aim of this study was to explore perspectives on the role that context plays in the adaptation and implementation of interventions targeting caregivers of children with DDs across settings. The study question was applied to the Caregiver Skills Training (CST) programme of the World Health Organization specifically, as well as to stakeholder experiences with caregiver interventions more broadly. Two focus group discussions (FGDs; n = 15 participants) and 25 individual semi-structured interviews were conducted. Participants were caregivers of children with DDs and professionals involved in adapting or implementing the CST across five continents and different income settings. Data were analysed thematically. Four main themes were developed: 1) Setting the scene for adaptations; 2) Integrating an intervention into local public services; 3) Understanding the reality of caregivers; 4) Challenges of sustaining an intervention. Informants thought that contextual adaptations were key for the intervention to fit in locally, even more so than cultural factors. The socio-economic context of caregivers, including poverty, was highlighted as heavily affecting service access and engagement with the intervention. Competing health priorities other than DDs, financial constraints, and management of long-term collaborations were identified as barriers. This study validates the notion that attention to contextual factors is an essential part of the adaptation of caregiver interventions for children with DDs, by providing perspectives from different geographical regions. We recommend a stronger policy and research focus on contextual adaptations of interventions and addressing unmet socio-economic needs of caregivers.

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325. Talli I, Dovrolis N, Oulas A, Stavrakaki S, Makedou K, Spyrou GM, Maroulakou I. Novel clinical, molecular and bioinformatics insights into the genetic background of autism. Hum Genomics;2022 (Sep 18);16(1):39.

BACKGROUND: Clinical classification of autistic patients based on current WHO criteria provides a valuable but simplified depiction of the true nature of the disorder. Our goal is to determine the biology of the disorder and the ASD-associated genes that lead to differences in the severity and variability of clinical features, which can enhance the ability to predict clinical outcomes. METHOD: Novel Whole Exome Sequencing data from children (n = 33) with ASD were collected along with extended cognitive and linguistic assessments. A machine learning methodology and a literature-based approach took into consideration known effects of genetic variation on the translated proteins, linking them with specific ASD clinical manifestations, namely non-verbal IQ, memory, attention and oral language deficits. RESULTS: Linear regression polygenic risk score results included the classification of severe and mild ASD samples with a 81.81% prediction accuracy. The literature-based approach revealed 14 genes present in all sub-phenotypes (independent of severity) and others which seem to impair individual ones, highlighting genetic profiles specific to mild and severe ASD, which concern non-verbal IQ, memory, attention and oral language skills. CONCLUSIONS: These genes can potentially contribute toward a diagnostic gene-set for determining ASD severity. However, due to the limited number of patients in this study, our classification approach is mostly centered on the prediction and verification of these genes and does not hold a diagnostic nature per se. Substantial further experimentation is required to validate their role as diagnostic markers. The use of these genes as input for functional analysis highlights important biological processes and bridges the gap between genotype and phenotype in ASD.

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326. Tamon H, Itahashi T, Yamaguchi S, Tachibana Y, Fujino J, Igarashi M, Kawashima M, Takahashi R, Shinohara NA, Noda Y, Nakajima S, Hirota T, Aoki YY. Autistic children and adolescents with frequent restricted interest and repetitive behavior showed more difficulty in social cognition during mask-wearing during the COVID-19 pandemic: a multisite survey. BMC Psychiatry;2022 (Sep 14);22(1):608.

BACKGROUND: The public health measures enacted in order to control the coronavirus disease (COVID-19) pandemic have caused considerable changes to daily life. For autistic children and adolescents, adapting to the « new normal, » including mask-wearing, may be difficult because of their restricted interest and repetitive behavior (RRB) characteristics. We aimed to examine the relationships between RRB characteristics and the impact of mask-wearing on their social communications during the pandemic. METHODS: We recruited participants with a clinical diagnosis of autism spectrum disorder based on DSM-5 diagnostic criteria from two outpatient clinics in Tokyo, Japan, between November 2020 and April 2021 using a convenience sampling methodology. As a result, the participants consisted of 102 children and adolescents (mean (SD) age = 11.6 (5.3)). We collected data on RRB characteristics frequency before and during the pandemic using the CoRonavIruS Health Impact Survey (CRISIS) – Adapted for Autism and Related Neurodevelopmental conditions (AFAR). We then conducted factor analyses to compute the RRB severity composite scores, which are divided into lower- (e.g., sensory seeking), and higher-order (e.g., restricted interest). We also investigated mask-wearing culture using a bespoke questionnaire, and using Spearman’s rank correlation analyses, we examined the relationships between before pandemic RRB characteristics, and the impact of mask-wearing on social communications during the pandemic. RESULTS: We found that children and adolescents who exhibited lower-order RRB before the pandemic had difficulties in going-out with mask-wearing (rho = -0.25, q = .031), more challenges with mask-wearing (rho =  - 0.34, q = .0018), and difficulty in referring to others’ emotions while wearing masks (rho =  - 0.36, q = .0016). We also found an association between higher-order RRB before the pandemic and an uncomfortable sensation (rho =  - 0.42, q = .0002) and difficulties in referring to other’s emotions while wearing masks (rho =  - 0.25, q = .031). CONCLUSIONS: We revealed that various behaviors, such as sensory seeking, repetitive motor mannerisms and movements, and rituals and routines, undertaken before the pandemic could be important predictors of difficulties with mask-wearing and social communication for autistic children and adolescents during the pandemic. Caregivers and teachers wearing masks may need to provide extra support for social communication to autistic children and adolescents showing RRB characteristics frequently.

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327. Tartaglione AM, Villani A, Ajmone-Cat MA, Minghetti L, Ricceri L, Pazienza V, De Simone R, Calamandrei G. Maternal immune activation induces autism-like changes in behavior, neuroinflammatory profile and gut microbiota in mouse offspring of both sexes. Transl Psychiatry;2022 (Sep 14);12(1):384.

Autism Spectrum Disorder (ASD) is a sex-biased neurodevelopmental disorder with a male to female prevalence of 4:1, characterized by persistent deficits in social communication and interaction and restricted-repetitive patterns of behavior, interests or activities. Microbiota alterations as well as signs of neuroinflammation have been also reported in ASD. The involvement of immune dysregulation in ASD is further supported by evidence suggesting that maternal immune activation (MIA), especially during early pregnancy, may be a risk factor for ASD. The present study was aimed at characterizing the effects of MIA on behavior, gut microbiota and neuroinflammation in the mouse offspring also considering the impact of MIA in the two sexes. MIA offspring exhibited significant ASD-like behavioral alterations (i.e., deficits in sociability and sensorimotor gating, perseverative behaviors). The analysis of microbiota revealed changes in specific microbial taxa that recapitulated those seen in ASD children. In addition, molecular analyses indicated sex-related differences in the neuroinflammatory responses triggered by MIA, with a more prominent effect in the cerebellum. Our data suggest that both sexes should be included in the experimental designs of preclinical studies in order to identify those mechanisms that confer different vulnerability to ASD to males and females.

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328. Teixeira-Machado L, Arida RM, Ziebold C, Barboza AB, Ribeiro L, Teles MC, Rodrigues da Cunha Azevedo G, Silvestre de Paula C, Lowenthal R, Mari de Jesus J. A pilot randomized controlled clinical trial of dance practice for functionality in autistic children and adolescent with all levels of need support. Complement Ther Clin Pract;2022 (Aug 28);49:101650.

OBJECTIVE: This study addressed dance practice intertwining communication, functional independence and social behavior in autistic children and adolescents with all levels of need support. DESIGN: A pilot randomized clinical trial with seventy-two participants between 8 and 15 years old were assessed for eligibility. SETTING: Theater rehearsal room and mental health clinic. INTERVENTIONS: Dance group (n = 17) or control group (n = 19), 24 sessions, once a week, lasting 40 min. MAIN OUTCOME MEASURES: The Autism Behavior Checklist (ABC), Autistic Screening Questionnaire (ASQ), Childhood Autism Rate Scale (CARS), Functional Independence Measure (FIM), and World Health Organization Disability Assessment Schedule (WHODAS, version 2.0, to assess mothers’ functioning) were applied at two time points: baseline and end-point. RESULTS: Differences between dance and control groups were significant at post-intervention for communication (mean difference: 1.31; 99.8%CI: 0.29, 2.32, p < 0.001, d = 0.93); social cognition (mean difference: 1.01; 99.8%CI: 0.13, 1.89, p < 0.001, d = 0.82); autistic behavior (mean difference: 11.82; 99.8%CI: 17.33, -6.31, p < 0.001, d = 1.45). CONCLUSIONS: In this preliminary study, the findings provide ways of communication and social interaction through dance practice by autistic children and adolescents with all levels of support needs. Research on neurodiversity is needed to understand its feasibility and the lifestyle appropriation.

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329. Thabtah F, Spencer R, Abdelhamid N, Kamalov F, Wentzel C, Ye Y, Dayara T. Autism screening: an unsupervised machine learning approach. Health Inf Sci Syst;2022 (Dec);10(1):26.

Early screening of autism spectrum disorders (ASD) is a key area of research in healthcare. Currently artificial intelligence (AI)-driven approaches are used to improve the process of autism diagnosis using computer-aided diagnosis (CAD) systems. One of the issues related to autism diagnosis and screening data is the reliance of the predictions primarily on scores provided by medical screening methods which can be biased depending on how the scores are calculated. We attempt to reduce this bias by assessing the performance of the predictions related to the screening process using a new model that consists of a Self-Organizing Map (SOM) with classification algorithms. The SOM is employed prior to the diagnostic process to derive a new class label using clusters learnt from the independent features; these clusters are related to communication, repetitive traits, and social traits in the input dataset. Then, the new clusters are compared with existing class labels in the dataset to refine and eliminate any inconsistencies. Lastly, the refined dataset is utilised to derive classification systems for autism diagnosis. The new model was evaluated against a real-life autism screening dataset that consists of over 2000 instances of cases and controls. The results based on the refined dataset show that the proposed method achieves significantly higher accuracy, precision, and recall for the classification models derived when compared to models derived from the original dataset.

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330. Thompson-Hodgetts S. Reflections on my experiences as a non-autistic autism researcher. Autism;2022 (Sep 2):13623613221121432.

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331. Thudium S, Palozola K, L’Her É, Korb E. Identification of a transcriptional signature found in multiple models of ASD and related disorders. Genome Res;2022 (Sep 14)

Epigenetic regulation plays a critical role in many neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD). In particular, many such disorders are the result of mutations in genes that encode chromatin-modifying proteins. However, although these disorders share many features, it is unclear whether they also share gene expression disruptions resulting from the aberrant regulation of chromatin. We examined five chromatin modifiers that are all linked to ASD despite their different roles in regulating chromatin. Specifically, we depleted ASH1L, CHD8, CREBBP, EHMT1, and NSD1 in parallel in a highly controlled neuronal culture system. We then identified sets of shared genes, or transcriptional signatures, that are differentially expressed following loss of multiple ASD-linked chromatin modifiers. We examined the functions of genes within the transcriptional signatures and found an enrichment in many neurotransmitter transport genes and activity-dependent genes. In addition, these genes are enriched for specific chromatin features such as bivalent domains that allow for highly dynamic regulation of gene expression. The down-regulated transcriptional signature is also observed within multiple mouse models of NDDs that result in ASD, but not those only associated with intellectual disability. Finally, the down-regulated transcriptional signature can distinguish between control and idiopathic ASD patient iPSC-derived neurons as well as postmortem tissue, demonstrating that this gene set is relevant to the human disorder. This work identifies a transcriptional signature that is found within many neurodevelopmental syndromes, helping to elucidate the link between epigenetic regulation and the underlying cellular mechanisms that result in ASD.

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332. Timperio AM, Gevi F, Cucinotta F, Ricciardello A, Turriziani L, Scattoni ML, Persico AM. Urinary Untargeted Metabolic Profile Differentiates Children with Autism from Their Unaffected Siblings. Metabolites;2022 (Aug 26);12(9)

Autism Spectrum Disorder (ASD) encompasses a clinical spectrum of neurodevelopmental conditions that display significant heterogeneity in etiology, symptomatology, and severity. We previously compared 30 young children with idiopathic ASD and 30 unrelated typically-developing controls, detecting an imbalance in several compounds belonging mainly to the metabolism of purines, tryptophan and other amino acids, as well as compounds derived from the intestinal flora, and reduced levels of vitamins B6, B12 and folic acid. The present study describes significant urinary metabolomic differences within 14 pairs, including one child with idiopathic ASD and his/her typically-developing sibling, tightly matched by sex and age to minimize confounding factors, allowing a more reliable identification of the metabolic fingerprint related to ASD. By using a highly sensitive, accurate and unbiased approach, suitable for ensuring broad metabolite detection coverage on human urine, and by applying multivariate statistical analysis, we largely replicate our previous results, demonstrating a significant perturbation of the purine and tryptophan pathways, and further highlight abnormalities in the « phenylalanine, tyrosine and tryptophan » pathway, essentially involving increased phenylalanine and decreased tyrosine levels, as well as enhanced concentrations of bacterial degradation products, including phenylpyruvic acid, phenylacetic acid and 4-ethylphenyl-sulfate. The outcome of these within-family contrasts consolidates and extends our previous results obtained from unrelated individuals, adding further evidence that these metabolic imbalances may be linked to ASD rather than to environmental differences between cases and controls. It further underscores the excess of some gut microbiota-derived compounds in ASD, which could have diagnostic value in a network model differentiating the metabolome of autistic and unaffected siblings. Finally, it points toward the existence of a « metabolic autism spectrum » distributed as an endophenotype, with unaffected siblings possibly displaying a metabolic profile intermediate between their autistic siblings and unrelated typically-developing controls.

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333. Tomas V, Kingsnorth S, Kirsh B, Anagnostou E, Lindsay S. Using the COM-B Model and Theoretical Domains Framework to Understand Workplace Disclosure Experiences, Influencers, and Needs Among Autistic Young Adults. J Autism Dev Disord;2022 (Sep 28):1-15.

For autistic young adults, deciding whether to disclose their autism at work is complex. Minimal research explores what they need to support disclosure and what influences decisions. To understand disclosure needs and influencers, we explored (i) disclosure decision-making experiences and (ii) perceptions of the disclosure process among autistic young adults. We conducted focus groups using the Capability, Opportunity, Motivation, Behaviour Model and Theoretical Domains Framework (TDF). We analyzed data from 23 participants and mapped onto the TDF to develop five themes: (1) workplace environment, (2) perceptions of disclosure outcomes, (3) personal factors and identity, (4) disclosure-related ambitions and determination, and (5) know-hows of disclosure. Future work should prioritize developing disclosure decision-making supports and investigate employer roles in fostering inclusive workplaces.

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334. Tomczak MT, Mpofu E, Hutson N. Remote Work Support Needs of Employees with Autism Spectrum Disorder in Poland: Perspectives of Individuals with Autism and Their Coworkers. Int J Environ Res Public Health;2022 (Sep 2);19(17)

BACKGROUND AND AIMS: With remote work becoming more common across industries, employees with autism may experience different work support needs from neurotypical peers. However, the specific remote work needs of this group of employees are underexplored in the literature. We aim to propose ways to assess workplace digital adaptation needs for individuals with autism and a framework for communicating these needs to employers. METHODS: This qualitative study included interviews with 13 Polish business professionals, including coworkers and/or supervisors of employees with autism (n = 9) and female employees with autism (n = 4), about their remote work support needs. Participants responded to semi-structured interview questions identifying advantages and risk factors associated with remote work for this specific group of employees. RESULTS: Participants reported advantages of remote work, such as limiting sensory overload and intensive interpersonal contacts, indirect interpersonal communications, flexible work hours, and eliminating the need to travel to work. Participants also reported challenges of remote work, such as reducing wanted or helpful social contacts, engaging in direct electronic communications, limiting opportunities to learn from other employees, and managing work-life balance. CONCLUSION: These findings suggest a need for an autism-inclusive digitalized remote work design customized to the unique needs of employees on the autism spectrum. Business managers would be key partners in the design of autism-inclusive digitalized remote work systems. Additional research is needed with larger and more diverse samples of employees with autism.

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335. Tonge BJ, Brereton AV. World Autism Awareness Day: Reflections on the Indian context. Indian J Med Res;2022 (Mar&Apr);155(3&4):329-332.

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336. Trembath D, Varcin K, Waddington H, Sulek R, Bent C, Ashburner J, Eapen V, Goodall E, Hudry K, Roberts J, Silove N, Whitehouse A. Non-pharmacological interventions for autistic children: An umbrella review. Autism;2022 (Sep 8):13623613221119368.

What is already known about the topic?The delivery of evidence-based interventions is an important part of the clinical pathway for many autistic children and their families. However, parents, practitioners, and policymakers face challenges making evidence informed decisions, due to the wide variety of interventions available and the large, and often inconsistent, body of evidence regarding their effectiveness.What this paper adds?This is a comprehensive umbrella review, also known as a ‘review of reviews’, which examined the range of interventions available, the evidence for their effectiveness, and whether effects were influenced by factors relating to individual children (e.g. chronological age, core autism characteristics, and related skills) or the ways interventions were delivered (by whom and in what setting, format, mode, and amount). There was evidence for positive therapeutic effects for some, but not all, interventions. No single intervention had a positive effect for all child and family outcomes of interest. The influence of child and delivery characteristics on effects was unclear.Implications for practice, research, and policyThe findings provide parents, practitioners, and policymakers with a synthesis of the research evidence to inform decision-making and highlight the importance of individualised approaches in the absence of clear and consistent evidence. The findings also highlight the need to improve consistency and completeness in reporting of research studies, so that the same questions may be answered more comprehensively in the future.

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337. Valagussa G, Purpura G, Nale A, Pirovano R, Mazzucchelli M, Grossi E, Perin C. Sensory Profile of Children and Adolescents with Autism Spectrum Disorder and Tip-Toe Behavior: Results of an Observational Pilot Study. Children (Basel);2022 (Sep 1);9(9)

Atypical sensory processing is frequently reported in persons with autism spectrum disorders (ASD), and it is one of the described diagnostic criteria for ASD. There is also mounting literature supporting the presence of motor impairments in individuals with ASD. Among these motor signs, tip-toe behavior (TTB) is a possible clinical finding, but its etiology is not clearly understood. It is suggested that TTB in ASD could be a sign of a sensory modulation impairment, but evidence is lacking and controversial. The main aim of this pilot study is to explore sensory features in a sample (4 females; 28 males) of children and adolescents with ASD (age range: 7-18). All participants also presented Intellectual Disability. Participants were divided in two groups, matched for age and gender, on the basis of the presence or absence of TTB (16 ASD TTB group vs. 16 ASD NO-TTB group) and then evaluated by using the Short Sensory Profile. We found that both ASD groups tend to significantly present sensory-related behavioral symptoms, but ASD TTB individuals more frequently showed the specific pattern of « under responsive/seeks sensation » than ASD NO-TTB individuals. These preliminary findings support that sensory-motor features might be taken into consideration when rehabilitation for TTB in children and adolescents with ASD is necessary.

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338. Valenti M, Pino MC, Le Donne I, Vagnetti R, Tiberti S, Attanasio M, Mazza M. Adaptive response of Italian young adults with autism to the COVID-19 pandemic: A longitudinal study. Res Dev Disabil;2022 (Sep 12);131:104333.

The COVID-19 pandemic has represented a hazardous situation for individuals with Autism Spectrum Disorder (ASD) and their families. The difficulties, following the COVID-19-derived lockdown, have involved working from home or loss of employment, and the demands of looking after their children without the daily support of specialists. The aim of this study was to evaluate the adaptive behaviour of young adult participants with ASD after the enforcement of lockdown measures in March 2020 in a specialised centre in central Italy, by administering the Italian form of the Vineland Adaptive Behaviour Scales Second Edition (VABS-II), at baseline as well as 6 months and 1 year after the lockdown. Participants with ASD who were not able to access their normal, in-person care – they were only followed at a distance (i.e. telehealth) – declined dramatically in their adaptive behaviour during the first months after the lockdown for some VABS-II dimensions such as the socialisation and daily living domains. The effects of the lockdown on adaptive behaviour remained after 1 year. Our results emphasise the need for immediate, continuous and personal support for people with ASD during and after the restrictions caused by the COVID-19 pandemic, in order to ensure at least partial recovery of adaptive functioning.

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339. Velarde M, Cárdenas A. [Autism spectrum disorder and attention-deficit/hyperactivity disorder: challenge in diagnosis and treatment]. Medicina (B Aires);2022 (Aug 30);82 Suppl 3:67-70.

The coexistence of autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) definitely poses new challenges, such as making an early diagnosis, considering that the former is usually diagnosed 2 years later in children with ADHD comorbid with autism compared to those with ASD alone; this is a problem at a personal, family and social level, since they must receive timely intervention. This coexistence raises questions about the efficacy of treatment in ADHD in people with autism, genetic, anatomical and functional concordances, among others; these are the challenges that are currently posed. In this review, we present some responses to the challenges posed by such coexistence, and we highlight some pending issues to be solved, being these of great importance for their better understanding and management. In all patients with ADHD or ASD, a coexistence between them should be sought. There are shared functional brain alterations in both disorders identified by functional brain magnetic resonance imaging; the treatment established for ADHD is also effective in this comorbidity.

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340. Velkey AJ, Koon CH, Danstrom IA, Wiens KM. Female zebrafish (Danio rerio) demonstrate stronger preference for established shoals over newly-formed shoals in the three-tank open-swim preference test. PLoS One;2022;17(9):e0265703.

Zebrafish (Danio rerio) share a considerable amount of biological similarity with mammals, including identical or homologous gene expression pathways, neurotransmitters, hormones, and cellular receptors. Zebrafish also display complex social behaviors like shoaling and schooling, making them an attractive model for investigating normal social behavior as well as exploring impaired social function conditions such as autism spectrum disorders. Newly-formed and established shoals exhibit distinct behavior patterns and inter-member interactions that can convey the group’s social stability. We used a three-chamber open-swim preference test to determine whether individual zebrafish show a preference for an established shoal over a newly-formed shoal. Results indicated that both sexes maintained greater proximity to arena zones nearest to the established shoal stimulus. In addition, we report the novel application of Shannon entropy to discover sex differences in systematicity of responses not revealed by unit-based measurements; male subjects spent more time investigating between the two shoals than female subjects. This novel technique using established versus newly-formed shoals can be used in future studies testing transgenics and pharmacological treatments that mimic autism spectrum disorder and other disorders that affect social interaction.

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341. Verma A, Priyank H, Viswanath B, Bhagat JK, Purbay S, V M, Shivakumar S. Assessment of Parental Perceptions of Socio-Psychological Factors, Unmet Dental Needs, and Barriers to Utilise Oral Health Care in Autistic Children. Cureus;2022 (Aug);14(8):e27950.

INTRODUCTION: Parents’ participation is crucial in the dental health intervention of children with autism spectrum disorder (ASD). Parenting children with ASD is extremely stressful and challenging. Parents and other caregivers have a responsibility to care for and raise children with ASD. Parental perception of the condition, situational adaptation, and attitude towards the issue are significant indicators of how they will respond and eventually adapt to it. METHODOLOGY: A comparative, descriptive study was done on parents of 154 autistic children and 235 normal children. An 11-variable questionnaire eliciting various details of socio-psychological factors affecting the utilisation of oral health care was designed and validated. The questionnaire also included parameters regarding barriers to accessing dental services. The dental caries and oral hygiene status of all children were examined using the Basic Oral Health Survey 2013 proforma. Chi-square and independent t-tests were applied to find significant differences between the groups. RESULTS: A greater number of male children (61.0%) were observed among autistic children. Parental perception regarding socio-psychological concerns with raising an autistic child showed significant differences for all variables between the groups except for assistance in the child’s task with 90.2% as against 55% of the parents with non-autistic children. Parents of autistic children were more receptive to the idea of focus group discussion. Decayed teeth were significantly found to be higher in autistic cohorts (2.554 ± 1.616 versus 1.779 ± 1.841). Oral hygiene status was also statistically significant amongst autism-affected children than those who were not at p =0.000. CONCLUSION: The present study explored various socio-psychological factors of parental perception of autistic children. A better outcome can be suggested when parents gained awareness regarding various strategies and treatment options available for their child’s oral health. Furthermore, dental health can be improved by bringing in certain environmental modifications in which the autistic child is groomed.

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342. Vilela J, Martiniano H, Marques AR, Santos JX, Rasga C, Oliveira G, Vicente AM. Disease similarity network analysis of Autism Spectrum Disorder and comorbid brain disorders. Front Mol Neurosci;2022;15:932305.

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder with heterogeneous clinical presentation, variable severity, and multiple comorbidities. A complex underlying genetic architecture matches the clinical heterogeneity, and evidence indicates that several co-occurring brain disorders share a genetic component with ASD. In this study, we established a genetic similarity disease network approach to explore the shared genetics between ASD and frequent comorbid brain diseases (and subtypes), namely Intellectual Disability, Attention-Deficit/Hyperactivity Disorder, and Epilepsy, as well as other rarely co-occurring neuropsychiatric conditions in the Schizophrenia and Bipolar Disease spectrum. Using sets of disease-associated genes curated by the DisGeNET database, disease genetic similarity was estimated from the Jaccard coefficient between disease pairs, and the Leiden detection algorithm was used to identify network disease communities and define shared biological pathways. We identified a heterogeneous brain disease community that is genetically more similar to ASD, and that includes Epilepsy, Bipolar Disorder, Attention-Deficit/Hyperactivity Disorder combined type, and some disorders in the Schizophrenia Spectrum. To identify loss-of-function rare de novo variants within shared genes underlying the disease communities, we analyzed a large ASD whole-genome sequencing dataset, showing that ASD shares genes with multiple brain disorders from other, less genetically similar, communities. Some genes (e.g., SHANK3, ASH1L, SCN2A, CHD2, and MECP2) were previously implicated in ASD and these disorders. This approach enabled further clarification of genetic sharing between ASD and brain disorders, with a finer granularity in disease classification and multi-level evidence from DisGeNET. Understanding genetic sharing across disorders has important implications for disease nosology, pathophysiology, and personalized treatment.

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343. Villegas-Lirola F. Prevalence of Autism Spectrum Disorder in Children in Andalusia (Spain). J Autism Dev Disord;2022 (Sep 8)

Autism Spectrum Disorder (ASD) is socially relevant because of its number and the intensity of the medical and socio-educational response it requires. In Andalusia, one in 70 children will be diagnosed with ASD in 2021. It is much more frequent in boys than in girls, being 5.91 times more likely to present it as a boy than as a girl. The age of diagnosis is increasingly younger, standing at 4.4 years. In more than half of primary schools and more than 75% of secondary schools there are an average of three students with ASD per school. It is necessary to develop a network of preferential care centers for students with ASD to generalize specialized care in ordinary modalities.

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344. Vivanti G. What does it mean for an autism intervention to be evidence-based?. Autism Res;2022 (Sep 6)

Although there is consensus in the field that individuals on the autism spectrum should receive interventions that are evidence-based, the concept of « evidence-based » is multifaceted and subject to ongoing development and debate. In this commentary, we review historical developments, methodological approaches, as well as areas of controversies and research directions in the establishment of an evidence base for autism intervention. LAY SUMMARY: What does it mean for an autism intervention to be evidence-based? In this commentary, we address this complex issue by examining historical developments, methodological approaches, as well as areas of ongoing debate in the establishment of evidence-based interventions for autism.

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345. Vogel DHV, Jording M, Esser C, Conrad A, Weiss PH, Vogeley K. Temporal binding of social events less pronounced in individuals with Autism Spectrum Disorder. Sci Rep;2022 (Sep 1);12(1):14853.

Differences in predictive processing are considered amongst the prime candidates for mechanisms underlying different symptoms of autism spectrum disorder (ASD). A particularly valuable paradigm to investigate these processes is temporal binding (TB) assessed through time estimation tasks. In this study, we report on two separate experiments using a TB task designed to assess the influence of top-down social information on action event related TB. Both experiments were performed with a group of individuals diagnosed with ASD and a matched group without ASD. The results replicate earlier findings on a pronounced social hyperbinding for social action-event sequences and extend them to persons with ASD. Hyperbinding however, is less pronounced in the group with ASD as compared to the group without ASD. We interpret our results as indicative of a reduced predictive processing during social interaction. This reduction most likely results from differences in the integration of top-down social information into action-event monitoring. We speculate that this corresponds to differences in mentalizing processes in ASD.

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346. Voinsky I, Zoabi Y, Shomron N, Harel M, Cassuto H, Tam J, Rose S, Scheck AC, Karim MA, Frye RE, Aran A, Gurwitz D. Blood RNA Sequencing Indicates Upregulated BATF2 and LY6E and Downregulated ISG15 and MT2A Expression in Children with Autism Spectrum Disorder. Int J Mol Sci;2022 (Aug 30);23(17)

Mutations in over 100 genes are implicated in autism spectrum disorder (ASD). DNA SNPs, CNVs, and epigenomic modifications also contribute to ASD. Transcriptomics analysis of blood samples may offer clues for pathways dysregulated in ASD. To expand and validate published findings of RNA-sequencing (RNA-seq) studies, we performed RNA-seq of whole blood samples from an Israeli discovery cohort of eight children with ASD compared with nine age- and sex-matched neurotypical children. This revealed 10 genes with differential expression. Using quantitative real-time PCR, we compared RNAs from whole blood samples of 73 Israeli and American children with ASD and 26 matched neurotypical children for the 10 dysregulated genes detected by RNA-seq. This revealed higher expression levels of the pro-inflammatory transcripts BATF2 and LY6E and lower expression levels of the anti-inflammatory transcripts ISG15 and MT2A in the ASD compared to neurotypical children. BATF2 was recently reported as upregulated in blood samples of Japanese adults with ASD. Our findings support an involvement of these genes in ASD phenotypes, independent of age and ethnicity. Upregulation of BATF2 and downregulation of ISG15 and MT2A were reported to reduce cancer risk. Implications of the dysregulated genes for pro-inflammatory phenotypes, immunity, and cancer risk in ASD are discussed.

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347. Wallace-Watkin C, Sigafoos J, Waddington H. Barriers and facilitators for obtaining support services among underserved families with an autistic child: A systematic qualitative review. Autism;2022 (Sep 8):13623613221123712.

Families from underrepresented ethnic or racial groups and those with limited financial resources could experience more difficulty in accessing support services for their autistic child due to certain types of barriers. We searched academic journals, websites, and other sources for studies which looked at what barriers might be present for such families and what might help families access support services for their autistic child. The search found 18 studies. Results from each study were examined and coded into themes. Parents reported that accessibility, diversity of support services, and stigma influenced their experiences with support services. We discuss what these findings might mean for future research and for service delivery.

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348. Wang J, Ma B, Zhang Z, Chen O. Global prevalence of autism spectrum disorder and its gastrointestinal symptoms: A systematic review and meta-analysis. Front Psychiatry;2022;13:963102.

BACKGROUND: Autism spectrum disorder (ASD) is a severe public health concern, and Gastrointestinal (GI) symptoms are becoming more common among co-morbidities. The evidence has to be updated depending on differences in different parts of the world. This systematic review and meta-analysis aimed to better understand the existing epidemiological condition and help make health-related decisions. METHODS: Searches in PubMed, Web of Science, Embase databases are limited to 14 March 2022. We reviewed the global prevalence of ASD and the prevalence of GI in people with ASD. Data were extracted by two independent researchers. Literature quality assessment using the National Institutes of Health Study Quality Assessment Tool. RESULTS: We discovered that the global pooled prevalence of ASD was 98/10,000 (95% confidence interval, 95%CI: 81/10,000-118/10,000, I (2) = 99.99%, p < 0.001), with 48.67% (95%CI: 43.50 -53.86, I (2) = 99.51%) of individuals with ASD reporting GI symptoms. Based on the subgroup analyses, we found a higher prevalence of ASD in males (90/10,000, 95%CI: 71/10,000-112/10,000, I (2) = 99.99%) than females (21/10,000, 95%CI: 15/10,000-27/10,000, I (2) = 99.99%). Prevalence of pooling is higher in developing countries (155/10,000, 95% CI: 111/10,000-204/10,000, I (2) = 99.87%) than in developed countries (85/10,000, 95%CI: 67/10,000-105/10,000, I (2) = 99.99%). CONCLUSION: The global prevalence of ASD and the prevalence of GI symptoms in ASD are both significant. The prevalence of ASD is much higher in men than in women. Further attention to ASD and its related comorbidities will be required in the future to inform coping strategy adaptation.

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349. Wang X, Carroll X, Zhang P, du Prel JB, Wang H, Xu H, Leeper-Woodford S. Exploring brainstem auditory evoked potentials and mental development index as early indicators of autism spectrum disorders in high-risk infants. Autism Res;2022 (Sep 22)

This study of infants from Hubei Province, China examined brainstem auditory evoked potentials (BAEP) and mental development index (MDI) as possible early indicators associated with autism spectrum disorders (ASD). The 34 ASD cases and 102 controls who had recovered from perinatal conditions were matched for age, sex, gestational age, birth weight and maternal age. BAEP absolute latencies (AL) I, III, V and interpeak latencies (IPL) I-III, III-V, I-V were compared in ASD cases and controls at ages 1, 3 and 6 months. MDI scores were compared in these infants from 1 month to 2 years old. Multiple logistic regression analysis was performed to test associations among ASD, BAEP and MDI. Results showed BAEP AL I, V and IPL III-V prolonged in the ASD group (p < 0.001), and MDI scores in ASD cases sharply declining from 12 to 24 months (p < 0.001). Regression analysis revealed odds ratios (OR) indicating that ASD was likely associated with abnormal values of BAEP AL I at 1 and 3 months (OR(AL I) : 4.27; OR(AL I) : 4.13), and AL V at 6 months (OR(AL V) : 7.85). Lower MDI scores (MDI < 80) in infants at 1, 3, and 6 months were likely associated with ASD (OR(MDI) : 2.58; OR(MDI) : 3.83; OR(MDI) : 4.87). These data show that abnormal BAEP values and low MDI scores are independent factors associated with ASD, and that monitoring of BAEP and MDI during infancy might facilitate screening for ASD development. LAY SUMMARY: The relationship between ASD and BAEP as well as MDI has been investigated in a sample of children from birth to 2 years of age in Hubei Province, China. Abnormal BAEP values from 1 to 6 months of age and lower MDI scores observed in these infants were associated with later diagnosis of ASD. Using this simple, non-invasive BAEP and MDI testing strategy might be a valuable tool for clinicians to identify early development of ASD.

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350. Wang X, Li J, Liu D. Effects of epidural analgesia exposure during parturition on autism spectrum disorder in newborns: A systematic review and meta-analysis based on cohort study. Front Psychiatry;2022;13:974596.

BACKGROUND: Labor epidural analgesia (LEA) is one of the most effective and widely used approaches for pain relief during parturition. we conducted this meta-analysis to evaluate the association between LEA exposure during parturition and ASD in newborns. METHODS: PubMed, Cochrane Library, EMBASE and Web of Science database were searched from inception to January 2, 2022 to identify related articles. Literature screening was carried out strictly according to the inclusion and exclusion criteria, and data were extracted and imported into STATA 15.0 software for meta-analysis. RESULTS: A total of 5 studies with 1763454 participants were included. A statistically significant correlation was observed between LEA and changed ASD (RR = 1.20, 95%CI (1.17, 1.24)), and the correlation between LEA and ASD were analyzed by univariate HR (ES = 1.34, 95%CI(1.27,1.40), P < 0.05) and Multivariate HR (ES = 1.13, 95%CI (1.05,1.21), P < 0.05). LIMITATION: First, few studies were included, and most patients were from the United States. Second, the included studies were observational cohort designs, which cannot avoid selection and measurement bias. Third, the results of the included studies were heterogeneous, and a more detailed subgroup analysis was not possible. CONCLUSION: There is a correlation between LEA during parturition and the risk of ASD in newborns. The Newborn whose mother received LEA during her birth-giving might be more likely to develop ASD.

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351. Wang Y, Huo X, Li W, Xiao L, Li M, Wang C, Sun Y, Sun T. Knowledge Atlas of the Co-Occurrence of Epilepsy and Autism: A Bibliometric Analysis and Visualization Using VOSviewer and CiteSpace. Neuropsychiatr Dis Treat;2022;18:2107-2119.

OBJECTIVE: This study aimed to analyze research on epilepsy in autism and autism in epilepsy using VOSviewer and CiteSpace to identify research hotspots and future directions. METHODS: We searched the Web of Science Core Collection (WoSCC) for relevant studies about epilepsy in autism and autism in epilepsy published from inception to 31 May 2022. VOSviewer and CiteSpace were used to analyze the authors, institutions, countries, publishing journals, reference co-citation patterns, keyword co-occurrence, keyword clustering, keywords with citation bursts, and other aspects to construct a knowledge atlas. RESULTS: A total of 473 publications related to epilepsy/autism were retrieved. The number of publications about epilepsy/ASD has generally increased over time, with some fluctuations. The USA (202 papers) and University of California-Los Angeles (15 papers) were the leading country and institution, respectively, in this field. Frye, Richard E. was the most published author (9 papers). Notably, collaboration between institutions, countries, and authors does not appear to be active. Hot topics and research frontiers include intellectual disability and exploring the mechanism of epilepsy/ASD from a genetics perspective. CONCLUSION: This analysis identified the most influential publications, authors, journals, institutions, and countries in the field of epilepsy/ASD research. Using co-occurrence and evolution analyses, the status of the field was identified and future trends were predicted.

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352. Wang Z, Gui Y, Nie W. Sensory Integration Training and Social Sports Games Integrated Intervention for the Occupational Therapy of Children with Autism. Occup Ther Int;2022;2022:9693648.

This paper presents a research design for an integrated intervention using sensory integration training fused with social sports games for the treatment of children with autism. This study used a multiple baseline cross-subject design in a single-subject experiment, with structured play as the independent variable and expressive language skills of children with autism spectrum disorders as the dependent variable, with three phases of intervention: baseline, intervention period, and maintenance period. The expressive language ability was examined in terms of both oral expression and gestural expression, where the intervention effect of the oral expression was analyzed in terms of four components: the total number of words, the total number of sentences, average sentence length, and vocabulary complexity of oral expression, and the intervention effect of the gestural expression was analyzed in terms of changes in the frequency of children’s gestural expression behaviors. For the categories classified by sensory integration ability, there are corresponding specific training programs that combine various physical exercises and play equipment to train the various abnormal functions of children with autism. Stereotyped behavior is a repetitive, self-imposed, and purposeless physical action, usually in the form of continuous and repetitive movements, sounds, and so on. 4 times a week, 25 minutes each time, the activity of recognizing pictures and familiar objects is carried out first, and then the children choose the structured game model and the initiative to build and take turns with the researchers to build. Stereotypic behaviors cause a great deal of distress in the lives of children with autism, and it is necessary to explore how to implement positive and effective interventions. Subjects’ play abilities developed after receiving effective critical response training. The subjects’ practice and symbolic play showed good immediate and maintenance intervention effectiveness; their associative and functional play showed no significant intervention effectiveness. The enhancement of the sensory integration skills of children with autism through sensory integration training resulted in a relative reduction of stereotypic behavior about the stimulus-seeking function, which had a positive effect on the intervention of stereotypic behavior.

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353. Weber CF, Lake EMR, Haider SP, Mozayan A, Mukherjee P, Scheinost D, Bamford NS, Ment L, Constable T, Payabvash S. Age-dependent white matter microstructural disintegrity in autism spectrum disorder. Front Neurosci;2022;16:957018.

There has been increasing evidence of White Matter (WM) microstructural disintegrity and connectome disruption in Autism Spectrum Disorder (ASD). We evaluated the effects of age on WM microstructure by examining Diffusion Tensor Imaging (DTI) metrics and connectome Edge Density (ED) in a large dataset of ASD and control patients from different age cohorts. N = 583 subjects from four studies from the National Database of Autism Research were included, representing four different age groups: (1) A Longitudinal MRI Study of Infants at Risk of Autism [infants, median age: 7 (interquartile range 1) months, n = 155], (2) Biomarkers of Autism at 12 months [toddlers, 32 (11)m, n = 102], (3) Multimodal Developmental Neurogenetics of Females with ASD [adolescents, 13.1 (5.3) years, n = 230], (4) Atypical Late Neurodevelopment in Autism [young adults, 19.1 (10.7)y, n = 96]. For each subject, we created Fractional Anisotropy (FA), Mean- (MD), Radial- (RD), and Axial Diffusivity (AD) maps as well as ED maps. We performed voxel-wise and tract-based analyses to assess the effects of age, ASD diagnosis and sex on DTI metrics and connectome ED. We also optimized, trained, tested, and validated different combinations of machine learning classifiers and dimensionality reduction algorithms for prediction of ASD diagnoses based on tract-based DTI and ED metrics. There is an age-dependent increase in FA and a decline in MD and RD across WM tracts in all four age cohorts, as well as an ED increase in toddlers and adolescents. After correction for age and sex, we found an ASD-related decrease in FA and ED only in adolescents and young adults, but not in infants or toddlers. While DTI abnormalities were mostly limited to the corpus callosum, connectomes showed a more widespread ASD-related decrease in ED. Finally, the best performing machine-leaning classification model achieved an area under the receiver operating curve of 0.70 in an independent validation cohort. Our results suggest that ASD-related WM microstructural disintegrity becomes evident in adolescents and young adults-but not in infants and toddlers. The ASD-related decrease in ED demonstrates a more widespread involvement of the connectome than DTI metrics, with the most striking differences being localized in the corpus callosum.

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354. Weiland RF, Polderman TJ, Smit DJ, Begeer S, Van der Burg E. No differences between adults with and without autism in audiovisual synchrony perception. Autism;2022 (Sep 7):13623613221121414.

It has been known for a long time that individuals diagnosed with autism spectrum disorder perceive the world differently. In this study, we investigated how people with or without autism perceive visual and auditory information. We know that an auditory and a visual stimulus do not have to be perfectly synchronous for us to perceive them as synchronous: first, when the two are within a certain time window (temporal binding window), the brain will tell us that they are synchronous. Second, the brain can also adapt quickly to audiovisual asynchronies (rapid recalibration). Although previous studies have shown that people with autism spectrum disorder have different temporal binding windows, and less rapid recalibration, we did not find these differences in our study. However, we did find that both processes develop over age, and since previous studies tested only young people (children, adolescents, and young adults), and we tested adults from 18 to 55 years, this might explain the different findings. In the end, there might be quite a complex story, where people with and without autism spectrum disorder perceive the world differently, even dependent on how old they are.

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355. Weyland M, Maes P, Kissine M, Defresne P. Impact of Belgian COVID-19 lockdown restrictions on autistic individuals’ socio-communicative behaviors and their parents’ quality of life. PLoS One;2022;17(8):e0273932.

BACKGROUND: In the spring of 2020, Belgian authorities enforced a full lockdown period to contain the spread of the SARS-CoV-2 virus. This lockdown drastically disrupted the daily life of autistic individuals’ and that of their families. In the midst of these extraordinary circumstances, we assessed the impact of social restrictions on autistic individuals’ behavior and their parents’ or caregivers’ quality of life; we also sought to identify individual characteristics that may influence such changes. METHODS: We designed an online survey targeting caregivers living with an autistic child or adult. The questionnaire included 125 five-point Likert questions which targeted changes in families’ quality of life and in autistic individuals’ behavior, as well as factors likely to influence the extent and direction of these changes. RESULTS: We collected data from 209 French-speaking Belgian respondents. Respondents reported that the lockdown brought about a higher frequency of nonfunctional socio-communicative behaviors, as well as a decrease in families’ quality of life. Parents who had less access to respite care experienced a steeper decrease in their quality of life. Autistic individuals with comorbidities, and whose parents had less access to respite care and implemented fewer rules at home during lockdown were more likely to display nonfunctional socio-communicative behaviors. CONCLUSION: COVID-19 lockdown restrictions had a negative impact on both autistic individuals and their parents.

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356. White AM, An X, Debiec J. Intact maternal buffering of stress response in infant rats despite altered responsivity towards maternal olfactory cues in the valproic acid model of autism-like behavior. Front Behav Neurosci;2022;16:959485.

Disrupted processing of social cues and altered social behaviors are among the core symptoms of autism spectrum disorders (ASDs), and they emerge as early as the first year of life. These differences in sensory abilities may affect the ability of children with ASDs to securely attach to a caregiver and experience caregiver buffering of stress. Prenatal exposure to valproic acid (VPA) has been used to model some aspects of ASDs in rodents. Here, we asked whether prenatal VPA exposure altered infant rats’ behavioral responsivity to maternal olfactory cues in an Odor Preference Test (OPT) and affected maternal buffering of infants’ stress responsivity to shock. In the odor preference test, 1-week old rats treated with VPA during pregnancy appeared to have impaired social recognition and/or may be less motivated to approach social odors in early infancy. These effects were particularly prominent in female pups. In 2-week old rats, VPA-exposed pups and saline-exposed pups showed similar preferences for home cage bedding. Although VPA-exposed pups may initially have a deficit in this attachment-related behavior they do recover typical responses to home cage bedding in later infancy. Both control and VPA-exposed pups showed robust stress hormone responses to repeated shocks, an effect which was blocked when a calm mother was present during shock exposure. No sex differences in the effect of maternal presence on the stress response to shock and no interactions between sex and prenatal drug exposure were observed. Although VPA-exposed pups may show impaired responsivity to maternal cues in early infancy, maternal presence is still capable of regulating the stress response in VPA-exposed pups. In this study we demonstrate the importance of utilizing multiple batteries of tests in assessing behavior, dissecting the behavior on one test into different components. Our results inform about the underlying behavioral characteristics of some of the ASD phenotypes, including sex differences reported by clinical studies, and could shed light on potential opportunities for intervention.

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357. Wongpaiboonwattana W, Hnoonual A, Limprasert P. Association between 19-bp Insertion/Deletion Polymorphism of Dopamine β-Hydroxylase and Autism Spectrum Disorder in Thai Patients. Medicina (Kaunas);2022 (Sep 6);58(9)

Background and Objectives: Autism spectrum disorder (ASD) is a neurodevelopmental disorder the cause of which is not fully known. Genetic factors are believed to play a major role in the etiology of ASD. However, genetic factors have been identified in only some cases, and other causes remain to be identified. This study aimed to identify potential associations between ASD and the 19-bp insertion/deletion polymorphism in the dopamine beta-hydroxylase (DBH) gene which plays a crucial role in the metabolism of neurotransmitters. Materials and Methods: The 19-bp insertion/deletion polymorphism upstream of the DBH gene was analyzed for associations in 177 ASD patients and 250 healthy controls. Family-based analysis was performed in family trios of each patient using the transmission disequilibrium test to investigate the potential contributions of this DBH polymorphism to ASD. Results: The frequency of the 19-bp insertion allele was significantly higher in the patient group compared to the controls (0.624 vs. 0.556, respectively; p = 0.046). The frequency of the insertion/insertion genotype was also higher in the patient group (0.378 vs. 0.288, respectively) but without statistical significance (p = 0.110). The family-based analysis showed an association between patient families and the insertion allele when only families of male participants were analyzed (73 vs. 48 events; OR 1.521; 95% CI 1.057-2.189; p = 0.023). Conclusions: This population-based analysis found an association between the 19-bp insertion allele of the DBH gene and ASD. No association at the genotype level was found. The family-based analysis found an association between the insertion allele and ASD when the analysis was performed on male participants only, suggesting a linkage between the DBH locus and ASD.

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358. Xu L, Fields NL, Greer JA, Tamplain PM, Bricout JC, Sharma B, Doelling KL. Socially assistive robotics and older family caregivers of young adults with Intellectual and Developmental Disabilities (IDD): A pilot study exploring respite, acceptance, and usefulness. PLoS One;2022;17(9):e0273479.

INTRODUCTION: The need for caregiver respite is well-documented for the care of persons with IDD. Social Assistive Robotics (SAR) offer promise in addressing the need for caregiver respite through ‘complementary caregiving’ activities that promote engagement and learning opportunities for a care recipient (CR) with IDD. This study explored the acceptability and usefulness of a SAR caregiver respite program responsive to feedback from both young adults with IDD and their older family caregivers (age 55+). METHOD: Young adults with IDD and caregiver dyads (N = 11) were recruited. A mixed methods research design was deployed in three phases: Phase I with four focus groups to inform the program design; Phase II for program demonstration and evaluation with pre- and post-surveys; and Phase III with post-program interviews for feedback and suggestions. RESULTS: Both young adults with IDD and their caregivers scored favorably the social presence of, social engagement, and satisfaction with robot Pepper. Though there was no significant improvement of caregiving burden/stress as well as well-being of the young adults with IDD based on surveys, results from interviews suggested that the SAR may offer physical/emotional respite to caregivers by providing companionship/friendship as well as promoting independence, safety/monitoring, and interactive engagement with children. DISCUSSION: SAR has potential in providing respite for older family caregivers. Future studies need a longer program design and larger sample size to develop a promising intervention and test its feasibility and efficacy.

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359. Xu Y, Zeng W, Wang Y, Magaña S. Barriers to Service Access for Immigrant Families of Children With Developmental Disabilities: A Scoping Review. Intellect Dev Disabil;2022 (Oct 1);60(5):382-404.

This scoping review explores (a) barriers faced by immigrant families of children with intellectual and developmental disabilities (IDD) when accessing healthcare-related services in the United States, (b) where research stands based on the health disparity research framework, and (c) implications for future health disparities research with this population. Our scoping review found 26 empirical studies published between 2000 and 2020 that met our inclusion criteria. Data were extracted and synthesized based on the stages of research outlined in the health disparity research framework. Overall, immigrant families experienced barriers on multiple levels including patient, provider, and healthcare system levels. Studies focusing on detecting and reducing disparities are emerging. We conclude with recommendations for future research and practice with immigrant families of children with IDD.

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360. Yang S, Han D, Zhou H, Yang C, Zhang K, Chen S, Yang R, Cao X, Grodberg D, Zhao X, Kang C. Validity and Cutoff Score of the Autism Mental Status Exam for an Autism Spectrum Disorder Diagnosis in Chinese Children. J Autism Dev Disord;2022 (Sep 10)

The Autism Mental Status exam (AMSE) has demonstrated excellent sensitivity and specificity in Western high-risk population with suspected autism spectrum disorder (ASD). This study aimed to evaluate the psychometric properties of the AMSE in a sample of high-risk Chinese children, and to determine the optimal cutoff score of the Chinese version of the AMSE in supporting ASD diagnosis. 66 young children aged from 2 to 11 years with suspected ASD were enrolled in the present study. A diagnosis of ASD or non-ASD was determined by a Best Estimate Diagnosis protocol according to the DSM-5 criteria. Receiver operating characteristic (ROC) curve analysis was conducted to assess the validity of the AMSE and search for the most effective cutoff score. The ROC curve analysis yields the area under the ROC curve of 0.98 which represents excellent diagnostic accuracy. Findings indicate the optimal cutoff score of the Chinese version of the AMSE was estimated as 6, producing the highest sensitivity of 98% and a specificity of 87%. Preliminary findings of the study suggest the AMSE has promising psychometric properties as an assessment tool for identifying ASD symptoms and supporting diagnostic decision-making in high-risk Chinese children population.

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361. Yao D, Wang S, Li F, Gao M, Shao J. Analysis of sleep problem in children aged 1-3 years with autism spectrum disorder in Zhejiang province, China. Front Psychiatry;2022;13:923757.

BACKGROUND: High prevalence of sleep problems have been founded in children with Autism Spectrum Disorder (ASD), with rates ranging from 50 to 80%. We aimed to study the sleep status and the occurrence of sleep problems in children with autism spectrum disorder (ASD) aged 1-3 years, and to provide reference for guiding early comprehensive intervention for ASD children from the perspective of sleep. METHODS: From January 1 to December 31, 2021, 74 ASD children who met the diagnostic criteria of « Diagnostic and Statistical Manual of Mental Disorders-5 (DSM-V) » served as case group while 84 typically-developing children of the same sex and age served as control group. An original Children’s Sleep Habit Questionnaire was adopted to compare the sleep status of children in the two groups and to conduct statistical analysis on related factors. RESULTS: The incidence of sleep problems in the case group (78.4%) was significantly higher than that in the control group (34.5%) (P < 0.001). Compared with the children in the control group, children in the case group had later bedtime (P < 0.05) and less sleep duration (P < 0.05), and required longer time to fall asleep (P < 0.001) The incidence of sleep problems in children who could fall asleep autonomously in the case group was significantly lower than that in children who needed parental help (P < 0.05). In the case group, the longer the screen exposure time, the higher the incidence of sleep problems (P < 0.05). CONCLUSIONS: The incidence of sleep problems in ASD children aged 1-3 years is also high, mainly manifested in late bedtime, difficulty falling asleep, frequent night awakenings and less sleep duration. Both sleep patterns and screen exposure can impact their sleep. In the early comprehensive intervention of ASD children, it is necessary to pay full heed to their sleep status and take timely intervention measures in order to improve the quality of life for the ASD children and their families.

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362. Ye C, Chen QY, Ma XQ, Lv P, Yang HL, Tian D, Zhao ZL, Lin JQ, Cui N, Li HL, Qin H. [Long-term outcomes of 328 patients with of autism spectrum disorder after fecal microbiota transplantation]. Zhonghua Wei Chang Wai Ke Za Zhi;2022 (Sep 25);25(9):798-803.

Objective: To evaluate the efficacy and safety of fecal microbiota transplantation (FMT) in the treatment of autism spectrum disorder (ASD). Methods: A longitudinal study was conducted. Clinical data from ASD patients with gastrointestinal symptoms and who underwent FMT in the Tenth People’s Hospital affiliated to Tongji University or Jinling Hospital between May 2012 to May 2021 were retrospectively collected. Scores derived from the autism behavior checklist (ABC), the childhood autism rating scale (CARS), the Bristol stool form scale (BSFS), and the gastrointestinal symptom rating scale (GSRS) were analyzed at baseline and at the 1st, 3rd, 6th, 12th, 24th, 36th, 48th and 60th month after FMT. Records of any adverse reactions were collected. Generalized estimating equations were used for analysis of data on time points before and after FMT. Results: A total of 328 patients met the inclusion criteria for this study. Their mean age was 6.1±3.4 years old. The cohort included 271 boys and 57 girls. The percentage of patients remaining in the study for post-treatment follow-up at the 1st, 3rd, 12th, 24th, 36th, 48th and 60th month were as follows: 303 (92.4%), 284 (86.7%), 213 (64.9%), 190 (57.9%), 143 (43.6%), 79 (24.1%), 46 (14.0%), 31 (9.5%). After FMT, the average ABC score was significantly improved in the first 36 months and remained improved at the 48th month. However, the average score was not significantly different from baseline by the 60th month (1st-36th month, P<0.001; 48th month, P=0.008; 60th month, P=0.108). The average CARS score improved significantly during the first 48 months and remained improved at the 60th month (1st-48th month, P<0.001; 60th month, P=0.010). The average BSFS score was also significantly improved in the first 36 months (with an accompanying stool morphology that resembled type 4). This improvement was maintained at the 48th month. However, the average score was similar to baseline at the 60th month (1st-36th month, P<0.001; 48th month, P=0.008; 60th month, P=0.109). The average GSRS score was significantly improved during the first 24 months, but not afterwards (1st-24th month, P<0.001; 36th month, P=0.209; 48th month, P=0.996; 60th month, P=0.668). The adverse events recorded during treatment included abdominal distension in 21 cases (6.4%), nausea in 14 cases (4.3%), vomiting in 9 cases (2.7%), abdominal pain in 15 cases (4.6%), diarrhea in 18 cases (5.5%), fever in 13 cases (4.0%), and excitement in 24 cases (7.3%). All adverse reactions were mild to moderate and improved immediately after suspension of FMT or on treatment of symptoms. No serious adverse reactions occurred. Conclusion: FMT has satisfactory long-term efficacy and safety for the treatment of ASD with gastrointestinal symptoms.

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363. Yon-Hernández JA, Wojcik DZ, García-García L, Magán-Maganto M, Franco-Martín M, Canal-Bedia R. Neuropsychological profile of executive functions in autism spectrum disorder and schizophrenia spectrum disorders: a comparative group study in adults. Eur Arch Psychiatry Clin Neurosci;2022 (Sep 5)

As assessed by numerous neuropsychological tasks, individuals with autism spectrum disorder (ASD) and schizophrenia spectrum disorders (SSDs) have similar impairments related to executive functions (EFs). The neuropsychological profile of these two conditions was examined using the three-component EFs’ framework of Miyake and Friedman (Cogn Psychol 41(1):49-100, 2000). This approach assesses Inhibition (suppression of unwanted and irrelevant information/responses), Updating (use and control of contents of working memory), and Shifting (disengagement between activities or mental tasks) using nine different tasks. In line with previous research, we expected greater performance deficits in ASD in all three components compared to SSD, as well as faster responses for the SSD group. A self-paced task format allowed us to examine whether unlimited time given for a task would lead to better performance. The sample was constituted by the control group (N = 25), ASD group (N = 24), and SSD group (N = 12). Groups did not differ on Inhibition performance. In Updating, individuals with SSD performed poorer than the other groups. As for Shifting, both groups demonstrated poorer performance compared to controls, with the SSD group presenting the greatest difficulties. In terms of reaction time (RT), SSD participants’ RT were the slowest on Inhibition and Shifting tasks. There was a positive correlation between performance and time spent on Inhibition and Shifting only for the SSD group, which demonstrates that their performance improves when there are no time constraints. Our work provides a better understanding of spared and impaired EFs, which could be useful for designing strategies aimed at improving specific EFs in each group.

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364. Yousuf A, Ahmed N, Qurashi A. Non-canonical DNA/RNA structures associated with the pathogenesis of Fragile X-associated tremor/ataxia syndrome and Fragile X syndrome. Front Genet;2022;13:866021.

Fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X syndrome (FXS) are primary examples of fragile X-related disorders (FXDs) caused by abnormal expansion of CGG repeats above a certain threshold in the 5′-untranslated region of the fragile X mental retardation (FMR1) gene. Both diseases have distinct clinical manifestations and molecular pathogenesis. FXTAS is a late-adult-onset neurodegenerative disorder caused by a premutation (PM) allele (CGG expansion of 55-200 repeats), resulting in FMR1 gene hyperexpression. On the other hand, FXS is a neurodevelopmental disorder that results from a full mutation (FM) allele (CGG expansions of ≥200 repeats) leading to heterochromatization and transcriptional silencing of the FMR1 gene. The main challenge is to determine how CGG repeat expansion affects the fundamentally distinct nature of FMR1 expression in FM and PM ranges. Abnormal CGG repeat expansions form a variety of non-canonical DNA and RNA structures that can disrupt various cellular processes and cause distinct effects in PM and FM alleles. Here, we review these structures and how they are related to underlying mutations and disease pathology in FXS and FXTAS. Finally, as new CGG expansions within the genome have been identified, it will be interesting to determine their implications in disease pathology and treatment.

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365. Yu YT, Lin CH, Li HJ, Tsai CH, Chen KL. Different mediators of applied theory-of-mind competence in children with autism spectrum disorder. Res Dev Disabil;2022 (Nov);130:104335.

BACKGROUND: Children with autistic spectrum disorder (ASD) with mild and moderate symptom levels have significant differences in applied theory of mind (ToM) competence. However, their mediators of applied ToM competence have not been documented. AIMS: This study aimed to identify the mediators of applied ToM competence in these two clinically distinct groups. METHODS: A total of 163 children with ASD aged 3-12 years old (88 and 75 children respectively in the mild and moderate groups) and their caregivers participated in this study. Data of children’s verbal comprehension, explicit ToM knowledge and applied ToM competence were collected and then analyzed using mediation analysis. RESULTS: The results of mediation analysis showed that verbal comprehension (95% confidence interval [CI] of indirect effect: 0.02 – 0.19) and explicit ToM knowledge (95% CI of indirect effect: 0.01 – 0.07) were the mediators of applied ToM competence in children with mild and those with moderate symptoms, respectively. CONCLUSIONS AND IMPLICATIONS: Our findings demonstrate that the mediators of applied ToM competence differ by symptom level in children with ASD. Applied ToM competence and the mediators should be assessed for designing tailored and effective intervention plans for these children according to their symptom level.

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366. Yue Y, Ash RT, Boyle N, Kinter A, Li Y, Zeng C, Lu H. MeCP2 deficiency impairs motor cortical circuit flexibility associated with motor learning. Mol Brain;2022 (Sep 5);15(1):76.

Loss of function mutations in the X-linked gene encoding methyl-CpG binding protein 2 (MECP2) cause Rett syndrome (RTT), a postnatal neurological disorder. The loss of motor function is an important clinical feature of RTT that manifests early during the course of the disease. RTT mouse models with mutations in the murine orthologous Mecp2 gene replicate many human phenotypes, including progressive motor impairments. However, relatively little is known about the changes in circuit function during the progression of motor deficit in this model. As the motor cortex is the key node in the motor system for the control of voluntary movement, we measured firing activity in populations of motor cortical neurons during locomotion on a motorized wheel-treadmill. Different populations of neurons intermingled in the motor cortex signal different aspects of the locomotor state of the animal. The proportion of running selective neurons whose activity positively correlates with locomotion speed gradually decreases with weekly training in wild-type mice, but not in Mecp2-null mice. The fraction of rest-selective neurons whose activity negatively correlates with locomotion speed does not change with training in wild-type mice, but is higher and increases with the progression of locomotion deficit in mutant mice. The synchronization of population activity that occurs in WT mice with training did not occur in Mecp2-null mice, a phenotype most clear during locomotion and observable across all functional cell types. Our results could represent circuit-level biomarkers for motor regression in Rett syndrome.

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367. Yui K, Imataka G, Yoshihara S. Lipid-Based Molecules on Signaling Pathways in Autism Spectrum Disorder. Int J Mol Sci;2022 (Aug 29);23(17)

The signaling pathways associated with lipid metabolism contribute to the pathophysiology of autism spectrum disorder (ASD) and provide insights for devising new therapeutic strategies. Prostaglandin E2 is a membrane-derived lipid molecule that contributes to developing ASD associated with canonical Wnt signaling. Cyclooxygenase-2 plays a key role in neuroinflammation and is implicated in the pathogenesis of neurodevelopmental diseases, such as ASD. The endocannabinoid system maintains a balance between inflammatory and redox status and synaptic plasticity and is a potential target for ASD pathophysiology. Redox signaling refers to specific and usually reversible oxidation-reduction reactions, some of which are also involved in pathways accounting for the abnormal behavior observed in ASD. Redox signaling and redox status-sensitive transcription factors contribute to the pathophysiology of ASD. Cannabinoids regulate the redox balance by altering the levels and activity of antioxidant molecules via ROS-producing NADPH oxidase (NOX) and ROS-scavenging superoxide dismutase enzymes. These signaling cascades integrate a broad range of neurodevelopmental processes that may be involved in the pathophysiology of ASD. Based on these pathways, we highlight putative targets that may be used for devising novel therapeutic interventions for ASD.

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368. Zapparrata NM, Brooks PJ, Ober TM. Slower Processing Speed in Autism Spectrum Disorder: A Meta-analytic Investigation of Time-Based Tasks. J Autism Dev Disord;2022 (Sep 16)

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition affecting information processing across domains. The current meta-analysis investigated whether slower processing speed is associated with the ASD neurocognitive profile and whether findings hold across different time-based tasks and stimuli (social vs. nonsocial; linguistic vs. nonlinguistic). Mean RTs of ASD and age-matched neurotypical comparison groups (N = 893 ASD, 1063 neurotypical; mean age ASD group = 17 years) were compared across simple RT, choice RT, and interference control tasks (44 studies, 106 effects) using robust variance estimation meta-analysis. Simple RT tasks required participants to respond to individual stimuli, whereas choice RT tasks required forced-choice responses to two or more stimuli. Interference control tasks required a decision in the context of a distractor or priming stimulus; in an effort to minimize inhibitory demands, we extracted RTs only from baseline and congruent conditions of such tasks. All tasks required nonverbal (motor) responses. The overall effect-size estimate indicated significantly longer mean RTs in ASD groups (g = .35, 95% CI = .16; .54) than comparison groups. Task type moderated effects, with larger estimates drawn from simple RT tasks than interference control tasks. However, across all three task types, ASD groups exhibited significantly longer mean RTs than comparison groups. Stimulus type and age did not moderate effects. Generalized slowing may be a domain-general characteristic of ASD with potential consequences for social, language, and motor development. Assessing processing speed may inform development of interventions to support autistic individuals and their diverse cognitive profiles.

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369. Zemestani M, Hoseinpanahi O, Salehinejad MA, Nitsche MA. The impact of prefrontal transcranial direct current stimulation (tDCS) on theory of mind, emotion regulation and emotional-behavioral functions in children with autism disorder: A randomized, sham-controlled, and parallel-group study. Autism Res;2022 (Sep 7)

Advances in our knowledge about the neuropsychological mechanisms underlying core deficits in autism spectrum disorder (ASD) have produced several novel treatment modalities. One of these approaches is modulation of activity of the brain regions involved in ASD symptoms. This study examined the effects of transcranial direct current stimulation (tDCS) over the dorsolateral prefrontal cortex (DLPFC) on autism symptom severity, theory of mind, emotion regulation strategies, and emotional-behavioral functions in children with ASD. Thirty-two children (M(age) = 10.16, SD = 1.93, range 7-12 years) diagnosed with ASD were randomly assigned to active (N = 17) or sham stimulation (N = 15) groups in a randomized, sham-controlled, parallel-group design. Participants underwent 10 sessions of active (1.5 mA, 15 min, bilateral left anodal/right cathodal DLPFC, 2 sessions per week) or sham tDCS. Autism symptom severity, theory of mind, emotion regulation strategies, and emotional-behavioral functioning of the patients were assessed at baseline, immediately after the intervention, and 1 month after the intervention. A significant improvement of autism symptom severity (i.e., communication), theory of mind (i.e., ToM 3), and emotion regulation strategies was observed for the active as compared to the sham stimulation group at the end of the intervention, and these effects were maintained at the one-month follow-up. The results suggest that repeated tDCS with anodal stimulation of left and cathodal stimulation of right DLPFC improves autism symptom severity as well as social cognition and emotion regulation in ASD.

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370. Zhang S, Wang S, Liu R, Dong H, Zhang X, Tai X. A bibliometric analysis of research trends of artificial intelligence in the treatment of autistic spectrum disorders. Front Psychiatry;2022;13:967074.

OBJECTIVE: Autism Spectrum Disorder (ASD) is a serious neurodevelopmental disorder that has become the leading cause of disability in children. Artificial intelligence (AI) is a potential solution to this issue. This study objectively analyzes the global research situation of AI in the treatment of ASD from 1995 to 2022, aiming to explore the global research status and frontier trends in this field. METHODS: Web of Science (WoS) and PubMed databese were searched for Literature related to AI on ASD from 1995 to April 2022. CiteSpace, VOSviewer, Pajek and Scimago Graphica were used to analyze the collaboration between countries/institutions/authors, clusters and bursts of keywords, as well as analyses on references. RESULTS: A total of 448 literature were included, the total number of literature has shown an increasing trend. The most productive country and institution were the USA, and Vanderbilt University. The authors with the greatest contributions were Warren, Zachary, Sakar, Nilanjan and Swanson, Amy. the most prolific and cited journal is Journal of Autism and Developmental Disorders, the highest cited and co-cited articles were Dautenhahn (Socially intelligent robots: dimensions of human-robot interaction 2007) and Scassellati B (Robots for Use in Autism Research 2012). « Artificial Intelligence », « Brain Computer Interface » and « Humanoid Robot » were the hotspots and frontier trends of AI on ASD. CONCLUSION: The application of AI in the treatment of ASD has attracted the attention of researchers all over the world. The education, social function and joint attention of children with ASD are the most concerned issues for global researchers. Robots shows gratifying advantages in these issues and have become the most commonly used technology. Wearable devices and brain-computer interface (BCI) were emerging AI technologies in recent years, which is the direction of further exploration. Restoring social function in individuals with ASD is the ultimate aim and driving force of research in the future.

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371. Zhang Y, Li D, Yang T, Chen C, Li H, Zhu C. Characteristics of emotional gaze on threatening faces in children with autism spectrum disorders. Front Psychiatry;2022;13:920821.

Most evidence suggested that individuals with autism spectrum disorder (ASD) experienced gaze avoidance when looking at the eyes compared to typically developing (TD) individuals. Children with ASD magnified their fears when received threatening stimuli, resulting in a reduced duration of eye contact. Few studies have explored the gaze characteristics of children with ASD by dividing emotional faces into threatening and non-threatening pairs. In addition, although dynamic videos are more helpful in understanding the gaze characteristics of children with ASD, the experimental stimuli for some of the previous studies were still emotional pictures. We explored the viewing of dynamic threatening and non-threatening faces by children with ASD in different areas of interest (AOIs). In this study, 6-10 years old children with and without ASD viewed faces with threatening (fearful and angry) and non-threatening (sad and happy) expressions, respectively, with their eyes movements recorded. The results showed that when confronted with threatening faces, children with ASD, rather than TD, showed substantial eye avoidances, particularly non-specific avoidances in the fixation time on the mouths and significantly less time gazing at the mouths in any emotions, which was not observed for non-threatening faces. No correlations were found between the severity of symptoms and characteristics of gaze at the eyes and mouths in children with ASD. These results further enhance the understanding of the gaze characteristics of children with ASD on threatening and non-threatening faces and possibly provide additional evidence for their social interaction improvements.

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372. Zhang Y, Maimaiti R, Lou S, Abula R, Abulaiti A, Kelimu A. Risk prediction of autism spectrum disorder behaviors among children based on blood elements by nomogram: A cross-sectional study in Xinjiang from 2018 to 2019. J Affect Disord;2022 (Dec 1);318:1-6.

BACKGROUND: Changes of toxic metals and essential elements during childhood may be the risk factor of autism spectrum disorder (ASD). This research established an accurate personalized predictive model of ASD behaviors among children by using the blood element detection index of children in Xinjiang, China. METHODS: A total of 1537 children (240 ASD behavior children and 1297 non-ASD behavior children) aged 0-7 were collected from September 2018 to September 2019 in Urumqi Children’s Hospital and the health management institute of Xinjiang Medical University. For measuring the copper (Cu), zinc (Zn), magnesium (Mg), iron (Fe), calcium (Ca), lead (Pb), and cadmium (Cd), 80 μL of blood was taken from each participant’s ring finger. Univariate logistic regression analysis was used to select predictors, then the multivariate logistic regression was used to establish the predictive model. The discriminability, calibration and clinical validity of the model were evaluated by the receiver operating characteristic (ROC) curve, Hosmer-Lemeshow test and decision curve analysis (DCA). RESULTS: Gender, concentrations of Pb, Ca and Zn in children’s blood specimens were found to be the independent risk factors of ASD behaviors and were used to develop the nomogram model. The area under the ROC curve (AUC) in the development group (AUC = 0.778) and the validation group (AUC = 0.775) showed the model had discrimination ability. The calibration curve indicated the model was accurate, and the DCA proved its clinical application value. CONCLUSION: The nomogram model can be used as a reliable tool to predict the risk of ASD behaviors among children.

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373. Zhang Y, Pang Y, Feng W, Jin Y, Chen S, Ding S, Wang Z, Zou Y, Li Y, Wang T, Sun P, Gao J, Zhu Y, Ke X, Marshall C, Huang H, Sheng C, Xiao M. miR-124 regulates early isolation-induced social abnormalities via inhibiting myelinogenesis in the medial prefrontal cortex. Cell Mol Life Sci;2022 (Sep 4);79(9):507.

Patients with autism spectrum disorder (ASD) typically experience substantial social isolation, which may cause secondary adverse effects on their brain development. miR-124 is the most abundant miRNA in the human brain, acting as a pivotal molecule regulating neuronal fate determination. Alterations of miR-124 maturation or expression are observed in various neurodevelopmental, neuropsychiatric, and neurodegenerative disorders. In the present study, we analyzed a panel of brain-enriched microRNAs in serums from 2 to 6 year old boys diagnosed with ASD. The hsa-miR-124 level was found significantly elevated in ASD boys than in age and sex-matched healthy controls. In an isolation-reared weanling mouse model, we evidenced elevated mmu-miR-124 level in the serum and the medial prefrontal cortex (mPFC). These mice displayed significant sociability deficits, as well as myelin abnormality in the mPFC, which was partially rescued by expressing the miR-124 sponge in the bilateral mPFC, ubiquitously or specifically in oligodendroglia. In cultured mouse oligodendrocyte precursor cells, introducing a synthetic mmu-miR-124 inhibited the differentiation process through suppressing expression of nuclear receptor subfamily 4 group A member 1 (Nr4a1). Overexpressing Nr4a1 in the bilateral mPFC also corrected the social behavioral deficits and myelin impairments in the isolation-reared mice. This study revealed an unanticipated role of the miR-124/Nr4a1 signaling in regulating early social experience-dependent mPFC myelination, which may serve as a potential therapy target for social neglect or social isolation-related neuropsychiatric disorders.

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374. Zhang Y, Yao S, Schmitt H, Becker B, Kendrick KM, Montag C. Molecular genetic associations between a prominent serotonin transporter gene polymorphism (5-HTTLPR/rs25531) and individual differences in tendencies toward autistic traits and generalized internet use disorder in China and Germany. Brain Behav;2022 (Sep 15):e2747.

BACKGROUND: The serotonin transporter polymorphism 5-HTTLPR is an extensively investigated genetic marker of autistic traits or autism spectrum disorder, and recently has also been studied in the realm of internet use disorder (IUD), yet the findings remain controversial. Therefore, the present study aimed to explore associations between 5-HTTLPR (also including SNP rs25531) and autistic traits/IUD tendencies and to assess whether the relationship between autistic traits and IUD tendencies varies by this genetic marker in participants from China and Germany. METHODS: A total of 540 Chinese and 563 German subjects were genotyped for 5-HTTLPR/rs25531 and completed the Adult Autism Spectrum Quotient questionnaire and the short version of the Internet Addiction Test. RESULTS: Carriers of the low expressing S’S’ genotype (S, L(G) ) showed significantly higher levels of autistic traits than the high expressing allele (e.g. L(A) ) carriers in both samples. There was no significant effect of 5-HTTLPR/rs25531 on IUD either in the Chinese or Germany samples, whereas positive correlations between autistic traits and IUD varied by 5-HTTLPR/rs25531 genotypes and also differed between Chinese and German samples. In the Chinese sample, positive correlations were mainly driven by S’S’ and S’L’ carriers, while they were mainly determined by S’L’ and L’L’ carriers in the German sample. Further analyses revealed that the associations between autistic traits and IUD tended in parts to be more strongly pronounced in the complete German sample compared to the complete Chinese sample, and also varied depending on 5-HTTLPR/rs25531 genotypes (in S’S’ carriers: China > Germany; in S’L’ and L’L’ carriers: China < Germany; both in terms of more positive associations). CONCLUSIONS: Our findings suggest carriers of low expressing alleles (S, L(G) ) are more likely to show higher autistic traits in both Chinese and German samples. Furthermore, the present work shows that both 5-HTTLPR/rs25531 and cultural differences might be of relevance to understand associations between autistic traits and IUD tendencies, but this needs to be further backed up.

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375. Zhang Y, Zhang K, Chen J, Liu L, Luo M, Chen Q, Zeng X, Wang G. Eye Tracking Study of Social Intensity on Social Orientation of Autistic Children. Behav Sci (Basel);2022 (Sep 5);12(9)

Some previous studies indicate that impaired social attention mainly results in social disorders in autistic children. In the social attention mode of autistic children, social orientation and joint attention are particularly important. The influence of different social intensity and ecological validity on them are worthy of further study. This study used realistic paintings with moderate ecological validity as experimental materials, to design isolated individual scene and social interaction scene, and to explore the impact of social interaction on the social orientation of autistic children. It found that in the scenes without social interaction, the attention patterns of autistic children and typical developing children were the same, while the attention patterns of autistic children were abnormal in the scenes with social interaction. From the eye tracking data, it was shown that the gaze processing process of autistic children was not as smooth as that of typical developing children. Compared with cartoons and other social scenes with low ecological validity, realistic painting could better restore the proportion of real scenes. Moreover, it could reduce the complexity of information which could not be done in real scenes. The findings of this study provide support for training and education of autistic children. Intervention with realistic paintings is conducive to the migration of autistic children.

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376. Zhang YH, Wang T, Li YF, Deng YN, Shen FG. Roles of the Notch signaling pathway and microglia in autism. Behav Brain Res;2022 (Sep 26);437:114131.

The Notch signaling pathway is mainly involved in the regulation of neural stem cell proliferation, survival and differentiation during the development of the central nervous system. As a neurodevelopmental disorder, autism is associated with an abnormal increase in the number of microglia in several brain regions. These findings suggest that the pathogenesis of autism may be related to the Notch signaling pathway and microglia. In this review, we discuss how Notch pathway activity leads to behavioral abnormalities such as learning and memory impairment by influencing neuronal biological activities. An increase in microglial protein synthesis and abnormal autophagy can affect synaptic development and lead to behavioral abnormalities, and all of these changes can lead to autism. Furthermore, the Notch signaling pathway regulates the activation and differentiation of microglia and promotes inflammatory responses, leading to the occurrence of autism. When excessive reactive oxygen species (ROS) secreted by microglia cannot be cleared by autophagy in a timely manner, Notch signaling pathway activity is affected, possibly further increasing susceptibility to autism. This review reveals the mechanism underlying the role of the Notch signaling pathway, microglia and their interaction in the pathogenesis of autism and provides a theoretical reference for targeted clinical therapies for autism.

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377. Zhao J, Lu Y, Wu X, Zhou F, Fei F, Ding X, Wang M. Bibliometric analysis of research themes and trends in childhood autism spectrum disorders from 2012 to 2021. Front Public Health;2022;10:925475.

BACKGROUND: Autism spectrum disorders (ASD) are heterogeneous neurodevelopmental conditions that affect people worldwide. Early diagnosis and clinical support help achieve good outcomes. However, medical system structure and restricted resource availability create challenges that increase the risk of poor outcomes. Understanding the research progress of childhood ASD in recent years, based on clinical literature reports, can give relevant researchers and rehabilitation therapists more resonable research guides. OBJECTIVE: This bibliometric study aimed to summarize themes and trends in research on childhood ASD and to suggest directions for future enquiry. METHODS: Citations were downloaded from the Web of Science Core Collection database on childhood ASD published from 1 January 2012, to 31 December 2021. The retrieved information was analyzed using CiteSpace.5.8. R3, and VOS viewer. RESULTS: A total of 7,611 papers were published across 103 areas. The United States was the leading source of publications. The clusters that have continued into 2020 include coronavirus disease 2019, gut microbiota, and physical activity, which represent key research topics. Keywords with frequency spikes during 2018-2021 were « disabilities monitoring network, » « United States, » and « caregiver. » CONCLUSIONS: The Autism and Developmental Disabilities Monitoring Network in the United States can be used as a reference for relevant workers worldwide. An intelligent medical assistant system is being developed. Further studies are required to elucidate challenges associated with caring for a child with ASD.

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378. Zhou HY, Lai IYS, Hung KSY, Chan MKM, Ho ZTY, Lam JPH, Lui SSY, Chan RCK. Audiovisual temporal processing in adult patients with first-episode schizophrenia and high-functioning autism. Schizophrenia (Heidelb);2022 (Sep 22);8(1):75.

Schizophrenia and autism spectrum disorder (ASD) are both neurodevelopmental disorders with altered sensory processing. Widened temporal binding window (TBW) signifies reduced sensitivity to detect stimulus asynchrony, and may be a shared feature in schizophrenia and ASD. Few studies directly compared audiovisual temporal processing ability in the two disorders. We recruited 43 adult patients with first-episode schizophrenia (FES), 35 average intelligent and verbally-fluent adult patients with high-functioning ASD and 48 controls. We employed two unisensory Temporal Order Judgement (TOJ) tasks within visual or auditory modalities, and two audiovisual Simultaneity Judgement (SJ) tasks with flash-beeps and videos of syllable utterance as stimuli. Participants with FES exhibited widened TBW affecting both speech and non-speech processing, which were not attributable to altered unisensory sensory acuity because they had normal visual and auditory TOJ thresholds. However, adults with ASD exhibited intact unisensory and audiovisual temporal processing. Lower non-verbal IQ was correlated with larger TBW width across the three groups. Taking our findings with earlier evidence in chronic samples, widened TBW is associated with schizophrenia regardless illness stage. The altered audiovisual temporal processing in ASD may ameliorate after reaching adulthood.

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379. Zittoun C, Garbous W, Raffin H, Gusso G. [Shiatsu: A complementary medicine for the relief and verbalization of trauma]. Encephale;2022 (Sep);48 Suppl 1:S56-S60.

OBJECTIVES: In child and adolescent psychiatry, symptoms such as aggressive behaviors directed against others or self, anxiety, impulsivity, oppositional behaviors, sleep disorders, and impairments in emotional regulation or social interaction can resist conventional therapies, particularly in children with autism spectrum disorder and/or intellectual disability, early childhood trauma, or attachment disorders. Among complementary medicine, yoga and mindfulness meditation, which are relatively well documented, provide interesting avenues especially for emotional control in adolescents or any individuals with oppositional behaviors, anxiety, impulsivity or hyperactivity in males with attention deficit/hyperactivity disorder. Less well known is shiatsu, a Japanese medicine based on traditional Chinese medicine using deep pressure on the paths of the acupuncture meridians. Clinical observations and rare studies on this topic were encouraging, especially for the treatment of sleep and conduct disorders, but there is a lack of empirical data. The objective of this study was to examine better the possible therapeutic effects of shiatsu in a clinical population of children treated in child and adolescent psychiatry. METHODS: The present research, a qualitative descriptive and non-interventional study, was conducted on children treated in daycare hospital units and outpatient clinical settings. Shiatsu was administered, at least during 3 sessions, to children with autism spectrum disorder or other disorders according to ICD-11 criteria (such as conduct disorders with impulsivity or attention deficit). The evaluation was performed by two independent researchers (a child psychiatrist and a psychologist who were not the caregivers) based on a direct observation of children during the shiatsu sessions, combined with semi-structured non-inductive interviews with their parents, and data collected from focus groups conducted with the children’s caregivers. A phenomenological interpretive analysis (IPA) approach with Nvivo coding software was used to analyze the data. RESULTS: Based on semi-structured interviews with 13 parents cross-referenced with data from 2 focus groups and direct observations of 7 children during 2 full shiatsu sessions for each observation, the results show that shiatsu has positive effects on internal tension (a relief effect, notably on aggressive behaviors directed against others or self), sleep (including improvement of sleep quality), social interaction, attention, verbalization of affects and verbalization of traumatic memories of early childhood, as well as on the perception of bodily limits. As these children benefit from several treatments, it cannot be proved that the positive effects observed in this study are related specifically to shiatsu practice in a effect-cause relationship. Shiatsu may participate and facilitate the effects of other treatments. It is noteworthy that most of the children came willingly to the shiatsu sessions, ask their parents to repeat the shiatsu sessions at home, and indicate to the practitioner, from one session to the next, their elective body points where they wish to receive the application of shiatsu. CONCLUSIONS: The findings suggest therapeutic benefits of shiatsu, especially on externalize violence with a relief of aggressive behavior directed against others or self (knowing, moreover, that internal tension, sleep disorders and non-verbalization of affects or traumatic memories, all improved by shiatsu, are also all risk factors for externalize violence). These results highlight, therefore, the need to develop a daily practice of shiatsu in child and adolescent psychiatry. Further research is required to clarify the effects of shiatsu and ascertain better its underlying mechanisms based on this exploratory pilot study.

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380. Zlatic SA, Duong D, Gadalla KKE, Murage B, Ping L, Shah R, Fink JJ, Khwaja O, Swanson LC, Sahin M, Rayaprolu S, Kumar P, Rangaraju S, Bird A, Tarquinio D, Carpenter R, Cobb S, Faundez V. Convergent cerebrospinal fluid proteomes and metabolic ontologies in humans and animal models of Rett syndrome. iScience;2022 (Sep 16);25(9):104966.

MECP2 loss-of-function mutations cause Rett syndrome, a neurodevelopmental disorder resulting from a disrupted brain transcriptome. How these transcriptional defects are decoded into a disease proteome remains unknown. We studied the proteome of Rett cerebrospinal fluid (CSF) to identify consensus Rett proteome and ontologies shared across three species. Rett CSF proteomes enriched proteins annotated to HDL lipoproteins, complement, mitochondria, citrate/pyruvate metabolism, synapse compartments, and the neurosecretory protein VGF. We used shared Rett ontologies to select analytes for orthogonal quantification and functional validation. VGF and ontologically selected CSF proteins had genotypic discriminatory capacity as determined by receiver operating characteristic analysis in Mecp2 (-/y) and Mecp2 (-/+) . Differentially expressed CSF proteins distinguished Rett from a related neurodevelopmental disorder, CDKL5 deficiency disorder. We propose that Mecp2 mutant CSF proteomes and ontologies inform putative mechanisms and biomarkers of disease. We suggest that Rett syndrome results from synapse and metabolism dysfunction.

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381. Zoodsma JD, Keegan EJ, Moody GR, Bhandiwad AA, Napoli AJ, Burgess HA, Wollmuth LP, Sirotkin HI. Disruption of grin2B, an ASD-associated gene, produces social deficits in zebrafish. Mol Autism;2022 (Sep 22);13(1):38.

BACKGROUND: Autism spectrum disorder (ASD), like many neurodevelopmental disorders, has complex and varied etiologies. Advances in genome sequencing have identified multiple candidate genes associated with ASD, including dozens of missense and nonsense mutations in the NMDAR subunit GluN2B, encoded by GRIN2B. NMDARs are glutamate-gated ion channels with key synaptic functions in excitatory neurotransmission. How alterations in these proteins impact neurodevelopment is poorly understood, in part because knockouts of GluN2B in rodents are lethal. METHODS: Here, we use CRISPR-Cas9 to generate zebrafish lacking GluN2B (grin2B(-/-)). Using these fish, we run an array of behavioral tests and perform whole-brain larval imaging to assay developmental roles and functions of GluN2B. RESULTS: We demonstrate that zebrafish GluN2B displays similar structural and functional properties to human GluN2B. Zebrafish lacking GluN2B (grin2B(-/-)) surprisingly survive into adulthood. Given the prevalence of social deficits in ASD, we assayed social preference in the grin2B(-/-) fish. Wild-type fish develop a strong social preference by 3 weeks post fertilization. In contrast, grin2B(-/-) fish at this age exhibit significantly reduced social preference. Notably, the lack of GluN2B does not result in a broad disruption of neurodevelopment, as grin2B(-/-) larvae do not show alterations in spontaneous or photic-evoked movements, are capable of prey capture, and exhibit learning. Whole-brain imaging of grin2B(-/-) larvae revealed reduction of an inhibitory neuron marker in the subpallium, a region linked to ASD in humans, but showed that overall brain size and E/I balance in grin2B(-/-) is comparable to wild type. LIMITATIONS: Zebrafish lacking GluN2B, while useful in studying developmental roles of GluN2B, are unlikely to model nuanced functional alterations of human missense mutations that are not complete loss of function. Additionally, detailed mammalian homologies for larval zebrafish brain subdivisions at the age of whole-brain imaging are not fully resolved. CONCLUSIONS: We demonstrate that zebrafish completely lacking the GluN2B subunit of the NMDAR, unlike rodent models, are viable into adulthood. Notably, they exhibit a highly specific deficit in social behavior. As such, this zebrafish model affords a unique opportunity to study the roles of GluN2B in ASD etiologies and establish a disease-relevant in vivo model for future studies.

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