1. The 24(th) International SSBP Research Symposium: Developmental Disorders and Behavioural Phenotypes Across the Lifespan. J Intellect Disabil Res;2022 (Aug);66(8-9):669-676.

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2. Abassi Abu Rukab S, Khayat N, Hochstein S. High-level visual search in children with autism. J Vis;2022 (Aug 1);22(9):6.

Visual search has been classified as easy feature search, with rapid target detection and little set size dependence, versus slower difficult search with focused attention, with set size-dependent speed. Reverse hierarchy theory attributes these classes to rapid high cortical-level vision at a glance versus low-level vision with scrutiny, attributing easy search to high-level representations. Accordingly, faces « pop out » of heterogeneous object photographs. Individuals with autism have difficulties recognizing faces, and we now asked if this disability disturbs their search for faces. We compare search times and set size slopes for children with autism spectrum disorders (ASDs) and those with neurotypical development (NT) when searching for faces. Human face targets were found rapidly, with shallow set size slopes. The between-group difference between slopes (18.8 vs. 11.3 ms/item) is significant, suggesting that faces may not « pop out » as easily, but in our view does not warrant classifying ASD face search as categorically different from that of NT children. We also tested search for different target categories, dog and lion faces, and nonface basic categories, cars and houses. The ASD group was generally a bit slower than the NT group, and their slopes were somewhat steeper. Nevertheless, the overall dependencies on target category were similar: human face search fastest, nonface categories slowest, and dog and lion faces in between. We conclude that autism may spare vision at a glance, including face detection, despite its reported effects on face recognition, which may require vision with scrutiny. This dichotomy is consistent with the two perceptual modes suggested by reverse hierarchy theory.

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3. Amaral DG, Nordahl CW. Amygdala Involvement in Autism: Early Postnatal Changes, But What Are the Behavioral Consequences?. Am J Psychiatry;2022 (Aug);179(8):522-524.

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4. Bradshaw J, Wolfe K, Hock R, Scopano L. Advances in Supporting Parents in Interventions for Autism Spectrum Disorder. Pediatr Clin North Am;2022 (Aug);69(4):645-656.

The rising prevalence of autism spectrum disorder (ASD) calls for clear referral and treatment guidelines for children with ASD and their caregivers. Caregiver involvement in intervention is a standard practice of care and research suggests that teaching intervention strategies to caregivers can improve child outcomes and increase caregiver efficacy. Caregiver-mediated interventions that are naturalistic, developmental, and behavioral are effective in improving social and communication skills for children with ASD. Caregiver training models that use behavioral strategies are effective in reducing challenging behaviors. Finally, reducing caregiver barriers to treatment implementation, including stress and strain, are becoming critical components for improving the well-being and care of children with ASD and their families.

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5. 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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6. Corbett BA, Muscatello RA, Kim A, Vandekar S, Duffus S, Sparks S, Tanguturi Y. Examination of pubertal timing and tempo in females and males with autism spectrum disorder compared to typically developing youth. Autism Res;2022 (Aug 1)

Autism spectrum disorder (ASD) is characterized by impaired social communication and poor adaptation to change; thus, pubertal development may be precarious. Pubertal timing and tempo were measured in 244 youth (7.9% Black, 83.3% White, and 8.7% multiracial) with ASD (N = 140) and typical development (N = 104). Pubertal development was measured using Tanner staging of Genital (G, males), Breast (B, females), and pubic hair (PH) in both sexes at Year 1 (10-13 years), Year 2 (11-14 years), and Year 3 (12-15 years). Nonlinear mixed effects models analyzed interindividual differences in timing and tempo. For both sexes, ASD and higher body mass index were associated with earlier pubertal timing. Males generally exhibited faster tempo than females. Linear regression models did not show associations between pubertal timing and internalizing symptoms at time three. Findings showing advanced pubertal maturation in ASD youth suggest greater risk of psychological, social, and physiological challenges. LAY SUMMARY: Youth with ASD have difficulty in social communication and adaption to change, thus puberty may be a challenging transition. The study examined onset (timing) and progression (tempo) of puberty over three years, using physical exam, in 244 adolescents with and without ASD, enrolled at ages 10-13. ASD youth started puberty earlier, while males generally progressed at a faster pace. Further examination of puberty in ASD should identify impact on social, behavioral, and mental health outcomes.

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7. Cornwall PL, Simpson S, Gibbs C, Morfee V. Evaluation of radically open dialectical behaviour therapy in an adult community mental health team: effectiveness in people with autism spectrum disorders – ERRATUM. BJPsych Bull;2022 (Aug 1):1.

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8. 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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9. DuBay M, Sideris J, Rouch E. Is traditional back translation enough? Comparison of translation methodology for an ASD screening tool. Autism Res;2022 (Aug 1)

Early identification of autism spectrum disorders (ASD) in non-English speaking children often relies on translation of English ASD screening measures. Most measures employ a forward-back translation approach, despite data suggesting that this method may result in poor psychometric properties. Some studies in non-ASD fields have suggested that a rigorous method of translation with cultural adaptation may yield better psychometric properties, but no studies in the ASD field have compared the two approaches directly. This investigation compares these two translation methodologies to determine if they produce psychometrically similar or dissimilar measures. Three hundred and eighty US-based Spanish-speaking caregivers of children 8-16 months old were randomly assigned to complete either a forward-back Spanish translation or a rigorous translation with cultural adaptation of a parent-report ASD screening tool. Measurement invariance analyses determined that the two translations were psychometrically dissimilar. Additional qualitative explanatory methods using cognitive interviews examined textual differences and participant preferences between non-invariant items. LAY SUMMARY: Autism screening questionnaires created in English need to be translated into other languages so non-English speaking parents can fill them out accurately. Traditionally, researchers have not considered cultural differences when they translate these questionnaires. When we compared a direct translation to a translation with cultural adaptations, the two questionnaires were statistically different. Parents interpreted and responded to the same questions differently, depending on which version they filled out.

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10. Fortier AV, Meisner OC, Nair AR, Chang SWC. Prefrontal circuits guiding social preference: Implications in autism spectrum disorder. Neurosci Biobehav Rev;2022 (Jul 29);141:104803.

Although Autism Spectrum Disorder (ASD) is increasing in diagnostic prevalence, treatment options are inadequate largely due to limited understanding of ASD’s underlying neural mechanisms. Contributing to difficulties in treatment development is the vast heterogeneity of ASD, from physiological causes to clinical presentations. Recent studies suggest that distinct genetic and neurological alterations may converge onto similar underlying neural circuits. Therefore, an improved understanding of neural circuit-level dysfunction in ASD may be a more productive path to developing broader treatments that are effective across a greater spectrum of ASD. Given the social preference behavioral deficits commonly seen in ASD, dysfunction in circuits mediating social preference may contribute to the atypical development of social cognition. We discuss some of the animal models used to study ASD and examine the function and effects of dysregulation of the social preference circuits, notably the medial prefrontal cortex-amygdala and the medial prefrontal cortex-nucleus accumbens circuits, in these animal models. Using the common circuits underlying similar behavioral disruptions of social preference behaviors as an example, we highlight the importance of identifying disruption in convergent circuits to improve the translational success of animal model research for ASD treatment development.

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11. Fritz C, Engelhardt A, Grohmann J, Dähnert I, Hummel J, Tanase D, Ewert P, Eicken A. A multi-center trial on efficacy and safety of the LifeTech CeraFlex(TM) ASD occluder for transcatheter closure in patients with secundum atrial septal defects. Cardiovasc Diagn Ther;2022 (Aug);12(4):475-484.

BACKGROUND: The last decades have brought remarkable improvements in treatment strategy and occluder modification of secundum atrial septal defect (ASD) closure. Approval, efficacy and safety of ASD closure devices have previously been demonstrated. This study investigated the clinical efficacy and safety of the LifeTech CeraFlex(TM) ASD occluder for interventional closure of secundum ASD with a 6-month follow-up (FU). METHODS: Procedure specific data was collected on patients considered for ASD closure with the CeraFlex(TM) occluder between April 2016 and December 2019 in three German centers. Efficacy and safety were assessed after device closure, at discharge, and at 6-month FU. RESULTS: The primary endpoint (successful ASD closure without severe complications) was reached by 102/103 patients (99%). Device embolization occurred in two patients (one early and one late embolization). After early snare-retrieval of an embolized device, this ASD was closed surgically and in the other patient with late device embolization the defect was closed with a larger CeraFlex(TM) occluder. The secondary endpoint (clincal efficacy after 6 months) was reached by 94/98 patients since new onset of arrhythmia occurred in four patients. Three patients had withdrawn their study-participation and one patient had moderate residual shunt, but not related to the occluder. Incomplete right bundle branch block (iRBBB) was seen in 31 patients. At last FU only 17 patients had remaining iRBBB documenting effective volume unloading of the right ventricle. CONCLUSIONS: Catheter interventional closure of secundum ASDs with the CeraFlex(TM) ASD occluder was feasible, safe and effective in this study.

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12. Fujishiro S, Tsuji S, Akagawa S, Akagawa Y, Yamanouchi S, Ishizaki Y, Hashiyada M, Akane A, Kaneko K. Dysbiosis in Gut Microbiota in Children Born Preterm Who Developed Autism Spectrum Disorder: A Pilot Study. J Autism Dev Disord;2022 (Jul 31)

The gut microbiota was reported to differ between children with autism spectrum disorder (ASD) and typically developing (TD) children, and dysbiosis of the gut microbiota in preterm infants is common. Here, we explored the characteristics of gut microbiota in children born preterm with ASD. We performed 16S rRNA gene sequencing using stool samples from ASD children born preterm and TD children born preterm. Alpha diversity was significantly greater in the ASD group. A comparison of beta diversity showed different clusters. Linear discriminant analysis effect size analysis revealed significantly more Firmicutes in the ASD group compared with the TD group. In conclusion, the gut microbiota in children born preterm differs between children with ASD and TD.

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13. Hayward SM, Stokes MA, McVilly KR. Short report: Gendered workplace social interaction processes in autism. Res Dev Disabil;2022 (Oct);129:104310.

BACKGROUND: Navigating workplace social interactions can be stressful for autistic people and be experienced differently by gender. A better understanding of the autistic experience of these difficulties is needed to inform effective policy, practice, and individualized support. METHOD: Fifty-five autistic individuals (n women=32; n men=22) participated in either an online survey or focus group. Data were analyzed using inductive thematic analysis. RESULTS: The data suggests that the social and interaction expectations placed upon autistic individuals differ by gender and can contribute to occupational stress. CONCLUSIONS: The data provides a basis for further investigation considering Conservation of Resources Theory and its practical application to inform reasonable adjustments in the workplace for autistic people. WHAT THIS PAPER ADDS: The gendered workplace experiences of autistic people is an emerging area of research. However, how workplace social interactions are experienced by each gender remains under-researched. An understanding of this could help decrease occupational stress, inform reasonable adjustments, and increase labor market participation in this population. This paper adds to the existing literature in showing that workplace social interactions for autistic people are experienced differently by gender. As such, the implications in the experience of occupational stress may also differ. Therefore, the importance of having reasonable adjustments in the workplace that account for gender is highlighted.

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14. 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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15. Isensee C, Schmid B, Marschik PB, Zhang D, Poustka L. Impact of COVID-19 pandemic on families living with autism: An online survey. Res Dev Disabil;2022 (Oct);129:104307.

BACKGROUND: The current SARS-CoV-2 global pandemic presents a great challenge for governments, health care professionals and the general population. Individuals with autism spectrum disorder (ASD) might be especially vulnerable to restrictions imposed by the crisis. AIM: The objective of the study was to examine the impact of the SARSCoV- 2 pandemic on children with ASD and their families. METHODS AND PROCEDURES: We conducted an online survey two months after the beginning of lock-down (18th of May to 5th of July 2020) in Germany and Austria. We investigated behavioral and emotional changes of children related to the lock-down alongside parental stress and intrafamilial burden OUTCOME AND RESULTS: Of the 216 participating families with an autistic child (mean age: 12.23 years), nearly 50% reported aggravation of autistic symptoms and heightened parental stress. Families reported discontinuation of therapy, more intrafamilial conflicts and increase of psychopharmacological medication of the child. CONCLUSIONS AND IMPLICATIONS: Our report on short-term detrimental effects of the pandemic calls for thorough investigation of long-term sequalae for children and families.

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16. Kalin NH. Neurodevelopmental and Neurodegenerative Illnesses: Autism, Fragile X Syndrome, Parkinson’s Disease, and Dementia. Am J Psychiatry;2022 (Aug);179(8):515-518.

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17. Lake JK, Volpe T, St John L, Thakur A, Steel L, Baskin A, Durbin A, Chacra MA, Lunsky Y. Mental health and COVID-19: The impact of a virtual course for family caregivers of adults with intellectual and developmental disabilities. J Intellect Disabil Res;2022 (Aug);66(8-9):677-689.

BACKGROUND: The COVID-19 pandemic has significantly impacted family caregivers of adults with intellectual and developmental disabilities (IDD). This study evaluated a virtual course for family caregivers from across Canada, focused on supporting the mental health and well-being of adults with IDD and their families. The evaluation examined the feasibility and acceptability of the course, as well as the impact of the intervention on participants’ overall health and well-being. METHODS: The 6-week virtual course, informed by a parallel Extension for Community Healthcare Outcomes (ECHO) course for service providers, combined didactic instruction with applied activities. A total of 126 family caregiver course participants consented to be part of the research evaluation delivered over three cycles between October 2020 and April 2021. Attendance was measured at each weekly session. Satisfaction was assessed weekly and post-program. Learning, self-efficacy, and well-being were assessed pre- and post-course, and again at follow-up (8 weeks post-course). Mixed-effects models assessed changes between and within individuals across time. RESULTS: Participants had consistent attendance, low-dropout rates, and reported high satisfaction, with 93% of participants reporting that their expectations for the course were met. Compared with pre-course, participants reported improved self-efficacy and well-being post-course, which were maintained at follow-up. CONCLUSIONS: An interactive and applied virtual education course delivered to a large group of family caregivers of adults with IDD was both feasible and acceptable. It positively impacted participants’ well-being by offering much needed mental health support and creating a peer-led community of practice.

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18. Levine J, Hakim F, Kooy RF, Gozes I. Vineland Adaptive Behavior Scale in a Cohort of Four ADNP Syndrome Patients Implicates Age-Dependent Developmental Delays with Increased Impact of Activities of Daily Living. J Mol Neurosci;2022 (Aug);72(8):1531-1546.

Activity-dependent neuroprotective protein (ADNP) is one of the lead genes in autism spectrum disorder/intellectual disability. Heterozygous, de novo ADNP mutations cause the ADNP syndrome. Here, to evaluate natural history of the syndrome, mothers of two ADNP syndrome boys aged 6 and a half and two adults aged 27 years (man and woman) were subjected to Vineland III questionnaire assessing adaptive behavior. The boys were assessed again about 2 years after the first measurements. The skill measures, presented as standard scores (SS) included domains of communication, daily living, socialization, motor skills and a sum of adaptive behavior composite. The age equivalent (AE) and growth scale values (GSV) encompassing 11 subdomains assess the age level at which the subject’s raw score is found at a norm sample median and the individual temporal progression, respectively. The norm referenced standard scores age-matched, mean 100 ± 15 of the two children showed the lowest outcome in communication (SS: 20-30). Daily living skills presented SS of 50-60, with a possible potential loss of some activities as the child ages, especially in interpersonal relationships with people outside of the immediate family (boy A). In contrast, in socialization, both children were at the SS of 38, with some positive increase to SS of ~ 45 (interpersonal relations with family members and coping skills, depending on the particular individual), 2 years later. Interestingly, there was an apparent large difference in motor skills (gross and fine) at the young age, with subject B showing a relatively higher level of skills (SS: 70), decreasing to subject A level (SS: 40) 2 years later. Together, the adaptive behavior composite suggested a level of SS: 39-48 with B showing a potential increase (SS: 41-44) and A, a substantial decrease (SS: 48-39), suggesting a strong impact of daily living skills. Adults were at SS: 20, which is the lowest possible score. AE showed minor improvements for subject A and B, with all AE values being below 3 years. GSVs for subject A showed some improvement with age, especially in interpersonal, play and leisure, and gross motor subdomains. GSV for subject B showed minor improvements in the various subdomains. Notably, all subjects showed a percentile rank < 1 compared with age-matched norms except for subject B as to motor domain (2(nd) percentile) at the age of 6 years. In summary, the results, especially comparing SS and AEs between childhood and adulthood, implied a continuous deterioration of activities compared to the general population, encompassing a slower developmental process coupled to possible neurodegeneration, strongly supporting a great need for disease modifying medicinal procedures.

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19. Lombardo B, Pagani M, De Rosa A, Nunziato M, Migliarini S, Garofalo M, Terrile M, D’Argenio V, Galbusera A, Nuzzo T, Ranieri A, Vitale A, Leggiero E, Di Maio A, Barsotti N, Borello U, Napolitano F, Mandarino A, Carotenuto M, Heresco-Levy U, Pasqualetti M, Malatesta P, Gozzi A, Errico F, Salvatore F, Pastore L, Usiello A. D-aspartate oxidase gene duplication induces social recognition memory deficit in mice and intellectual disabilities in humans. Transl Psychiatry;2022 (Aug 1);12(1):305.

The D-aspartate oxidase (DDO) gene encodes the enzyme responsible for the catabolism of D-aspartate, an atypical amino acid enriched in the mammalian brain and acting as an endogenous NMDA receptor agonist. Considering the key role of NMDA receptors in neurodevelopmental disorders, recent findings suggest a link between D-aspartate dysmetabolism and schizophrenia. To clarify the role of D-aspartate on brain development and functioning, we used a mouse model with constitutive Ddo overexpression and D-aspartate depletion. In these mice, we found reduced number of BrdU-positive dorsal pallium neurons during corticogenesis, and decreased cortical and striatal gray matter volume at adulthood. Brain abnormalities were associated with social recognition memory deficit at juvenile phase, suggesting that early D-aspartate occurrence influences neurodevelopmental related phenotypes. We corroborated this hypothesis by reporting the first clinical case of a young patient with severe intellectual disability, thought disorders and autism spectrum disorder symptomatology, harboring a duplication of a chromosome 6 region, including the entire DDO gene.

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20. Lumbreras-Marquez MI, Capdeville G, Ferrigno AS, Villela-Franyutti D, Bain PA, Campos-Zamora M, Butwick AJ, Farber MK. Association of neuraxial labor analgesia with autism spectrum disorder in children: a systematic review and meta-analysis. Int J Obstet Anesth;2022 (Jul 14);52:103577.

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21. Moxon-Emre I, Ameis S. Infant Brain Signatures of Genetic Liability for Autism: The Critical Need for Longitudinal Research. Am J Psychiatry;2022 (Aug);179(8):525-527.

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22. Quinde-Zlibut J, Munshi A, Biswas G, Cascio CJ. Identifying and describing subtypes of spontaneous empathic facial expression production in autistic adults. J Neurodev Disord;2022 (Aug 1);14(1):43.

BACKGROUND: It is unclear whether atypical patterns of facial expression production metrics in autism reflect the dynamic and nuanced nature of facial expressions across people or a true diagnostic difference. Furthermore, the heterogeneity observed across autism symptomatology suggests a need for more adaptive and personalized social skills programs. Towards this goal, it would be useful to have a more concrete and empirical understanding of the different expressiveness profiles within the autistic population and how they differ from neurotypicals. METHODS: We used automated facial coding and an unsupervised clustering approach to limit inter-individual variability in facial expression production that may have otherwise obscured group differences in previous studies, allowing an « apples-to-apples » comparison between autistic and neurotypical adults. Specifically, we applied k-means clustering to identify subtypes of facial expressiveness in an autism group (N = 27) and a neurotypical control group (N = 57) separately. The two most stable clusters from these analyses were then further characterized and compared based on their expressiveness and emotive congruence to emotionally charged stimuli. RESULTS: Our main finding was that a subset of autistic adults in our sample show heightened spontaneous facial expressions irrespective of image valence. We did not find evidence for greater incongruous (i.e., inappropriate) facial expressions in autism. Finally, we found a negative trend between expressiveness and emotion recognition within the autism group. CONCLUSION: The results from our previous study on self-reported empathy and current expressivity findings point to a higher degree of facial expressions recruited for emotional resonance in autism that may not always be adaptive (e.g., experiencing similar emotional resonance regardless of valence). These findings also build on previous work indicating that facial expression intensity is not diminished in autism and suggest the need for intervention programs to focus on emotion recognition and social skills in the context of both negative and positive emotions.

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23. Ratanatharathorn C, Sutchritpongsa S, Ritthita W, Rojmahamongkol P. Evaluation of the Developmental Assessment for Intervention Manual (DAIM) for developmental screening in high-risk infants at 12 months of corrected age. Infant Behav Dev;2022 (Aug);68:101752.

Early detection of developmental delay provides opportunities for early intervention. The Developmental Assessment for Intervention Manual (DAIM) is the simplified screening tool for detection of developmental delay in Thai young infants implemented country-wide by the Ministry of Public Health since 2015. Unlike standard assessment tool, DAIM can be obtained by lay staff or parents and takes less time. We aimed to evaluate the accuracy of the DAIM for detection of developmental delay among high-risk infants. This single center prospective study was conducted from May, 2017 to December, 2021. The infants with corrected aged of 12 months with history of birth asphyxia or low birth weight (<2500 g) who visited a tertiary hospital for developmental assessment were invited to participate the study. The four developmental domains (gross motor, fine motor, receptive language, and expressive language) were assessed by Bayley-III and followed by DAIM in the same visit. The 126 infants were enrolled, 50% were male. Using Bayley-III score < 7 as reference, the sensitivity for gross motor domain, fine motor domain, receptive language and expressive language were 83.3%, 57.1%, 55% and 19.2%, respectively. Specificity for each domain was 75.4%, 88.2%, 74.5% and 92%. Positive predictive value for each domain was 26.3%, 22.2%, 28.9% and 38.5%. Negative predictive value (NPV) for each domain was 97.7%, 97.2%, 89.8% and 81.4%. With high sensitivity and NPV of DAIM in motor domain, but low in expressive language domains, using DAIM alone in high-risk infants can detect motor delay well but will miss many infants with expressive language delaye.

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24. Sabapathy T, Goss M, Borelli JL, Steinberg-Epstein R. A Pediatrician’s Guide to Working with Children on the Autism Spectrum in Coronavirus Disease 2019 and Beyond: Retrospect and Prospect. Adv Pediatr;2022 (Aug);69(1):41-58.

The COVID-19 pandemic is an unprecedented event with devastating effects on children and families, highlighting and broadening disparities in the care of children with developmental disabilities, while simultaneously catalyzing innovation. Children are vulnerable to the impacts of COVID-19, resulting in increased stress, anxiety, isolation, and health challenges, further amplified in autistic children and children with other neurodevelopmental disabilities. These children are uniquely vulnerable due to communication impairments, comorbid medical disorders, reduced adaptability, and reliance on therapeutic interventions. Abrupt reduction in services and access to care during the pandemic compromised physical and mental health and led to missed intervention opportunities at critical times. It is important to examine the effects that the pandemic triggered, address deficiencies, and recognize new opportunities to improve systems of care to prepare for unforeseen futures.

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25. 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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26. Takayama K, Tobori S, Andoh C, Kakae M, Hagiwara M, Nagayasu K, Shirakawa H, Ago Y, Kaneko S. Autism Spectrum Disorder Model Mice Induced by Prenatal Exposure to Valproic Acid Exhibit Enhanced Empathy-Like Behavior via Oxytocinergic Signaling. Biol Pharm Bull;2022;45(8):1124-1132.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by core symptoms, including impairments in social behavior and repetitive interests. Recent studies have revealed that individuals with ASD also display decreased empathy, ultimately leading to difficulties in social relationships; however, another report indicated that individuals with ASD have enhanced emotional empathy. Nonetheless, the neurobiological mechanisms underlying altered empathy in individuals with ASD remain unclear. In this study, we assessed empathy-like behaviors in valproic acid (VPA)-treated mice-a mouse model of ASD with observational fear learning. We then investigated the brain regions and signaling systems responsible for the altered empathy-like behaviors in VPA-treated mice. As a result, mice prenatally exposed to VPA displayed increased empathy-like behaviors, which were not attributed to altered sensitivity to auditory stimuli or enhanced memory for pain-related contexts. Immunohistochemical analysis revealed that the number of c-Fos positive oxytocinergic neurons in the paraventricular nucleus of the hypothalamus (PVN) was significantly higher in VPA-treated mice after observational fear learning. Finally, we found that pretreatment with L-368899, an antagonist of the oxytocin receptor, repressed the empathetic behavior in VPA-treated mice. These results suggest that VPA-treated ASD model animals showed increased emotional empathy-like behaviors through the hyperactivation of PVN oxytocinergic neurons for the first time. Further investigation of this hyperactivity will help to identify extrinsic stimuli and the condition which are capable of activation of PVN oxytocinergic neurons and to identify novel approach to enhance oxytocin signaling, which ultimately pave the way to development of novel therapy for ASD.

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27. Viard J, Loe-Mie Y, Daudin R, Khelfaoui M, Plancon C, Boland A, Tejedor F, Huganir RL, Kim E, Kinoshita M, Liu G, Haucke V, Moncion T, Yu E, Hindie V, Bléhaut H, Mircher C, Herault Y, Deleuze JF, Rain JC, Simonneau M, Lepagnol-Bestel AM. Chr21 protein-protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer’s disease. Life Sci Alliance;2022 (Dec);5(12)

Down syndrome (DS) is caused by human chromosome 21 (HSA21) trisomy. It is characterized by a poorly understood intellectual disability (ID). We studied two mouse models of DS, one with an extra copy of the Dyrk1A gene (189N3) and the other with an extra copy of the mouse Chr16 syntenic region (Dp(16)1Yey). RNA-seq analysis of the transcripts deregulated in the embryonic hippocampus revealed an enrichment in genes associated with chromatin for the 189N3 model, and synapses for the Dp(16)1Yey model. A large-scale yeast two-hybrid screen (82 different screens, including 72 HSA21 baits and 10 rebounds) of a human brain library containing at least 10(7) independent fragments identified 1,949 novel protein-protein interactions. The direct interactors of HSA21 baits and rebounds were significantly enriched in ID-related genes (P-value < 2.29 × 10(-8)). Proximity ligation assays showed that some of the proteins encoded by HSA21 were located at the dendritic spine postsynaptic density, in a protein network at the dendritic spine postsynapse. We located HSA21 DYRK1A and DSCAM, mutations of which increase the risk of autism spectrum disorder (ASD) 20-fold, in this postsynaptic network. We found that an intracellular domain of DSCAM bound either DLGs, which are multimeric scaffolds comprising receptors, ion channels and associated signaling proteins, or DYRK1A. The DYRK1A-DSCAM interaction domain is conserved in Drosophila and humans. The postsynaptic network was found to be enriched in proteins associated with ARC-related synaptic plasticity, ASD, and late-onset Alzheimer's disease. These results highlight links between DS and brain diseases with a complex genetic basis.

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28. Vorstman JAS, Freitag CM, Persico AM. From Genes to Therapy in Autism Spectrum Disorder. Genes (Basel);2022 (Aug 1);13(8)

In recent years, findings from genetic and other biological studies are starting to reveal the role of various molecular mechanisms that contribute to the etiology of ASD […].

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29. Wang M, Wang L, Yang B, Yuan L, Wang X, Potenza MN, Dong GH. Disrupted dynamic network reconfiguration of the brain functional networks of individuals with autism spectrum disorder. Brain Commun;2022;4(4):fcac177.

Human and animal studies on brain functions in subjects with autism spectrum disorder have confirmed the aberrant organization of functional networks. However, little is known about the neural features underlying these impairments. Using community structure analyses (recruitment and integration), the current study explored the functional network features of individuals with autism spectrum disorder from one database (101 individuals with autism spectrum disorder and 120 healthy controls) and tested the replicability in an independent database (50 individuals with autism spectrum disorder and 74 healthy controls). Additionally, the study divided subjects into different age groups and tested the features in different subgroups. As for recruitment, subjects with autism spectrum disorder had lower coefficients in the default mode network and basal ganglia network than healthy controls. The integration results showed that subjects with autism spectrum disorder had a lower coefficient than healthy controls in the default mode network-medial frontal network and basal ganglia network-limbic networks. The results for the default mode network were mostly replicated in the independent database, but the results for the basal ganglia network were not. The results for different age groups were also analysed, and the replicability was tested in different databases. The lower recruitment in subjects with autism spectrum disorder suggests that they are less efficient at engaging these networks when performing relevant tasks. The lower integration results suggest impaired flexibility in cognitive functions in individuals with autism spectrum disorder. All these findings might explain why subjects with autism spectrum disorder show impaired brain networks and have important therapeutic implications for developing potentially effective interventions.

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30. Wong OWH, Barzilay R, Lam AMW, Chan S, Calkins ME, Gur RE, Gur RC. Executive function as a generalized determinant of psychopathology and functional outcome in school-aged autism spectrum disorder: a case-control study. Psychol Med;2022 (Aug 1):1-11.

BACKGROUND: Individuals with autism spectrum disorder (ASD) are challenged not only by the defining features of social-communication deficits and restricted repetitive behaviors, but also by a myriad of psychopathology varying in severity. Different cognitive deficits underpin these psychopathologies, which could be subjected to intervention to alter the course of the disorder. Understanding domain-specific mediating effects of cognition is essential for developing targeted intervention strategies. However, the high degree of inter-correlation among different cognitive functions hinders elucidation of individual effects. METHODS: In the Philadelphia Neurodevelopmental Cohort, 218 individuals with ASD were matched with 872 non-ASD controls on sex, age, race, and socioeconomic status. Participants of this cohort were deeply and broadly phenotyped on neurocognitive abilities and dimensional psychopathology. Using structural equation modeling, inter-correlation among cognitive domains were adjusted before mediation analysis on outcomes of multi-domain psychopathology and functional level. RESULTS: While social cognition, complex cognition, and memory each had a unique pattern of mediating effect on psychopathology domains in ASD, none had significant effects on the functional level. In contrast, executive function was the only cognitive domain that exerted a generalized negative impact on every psychopathology domain (p factor, anxious-misery, psychosis, fear, and externalizing), as well as functional level. CONCLUSIONS: Executive function has a unique association with the severity of comorbid psychopathology in ASD, and could be a target of interventions. As executive dysfunction occurs variably in ASD, our result also supports the clinical utility of assessing executive function for prognostic purposes.

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31. Zhao Z, Wei J, Xing J, Zhang X, Qu X, Hu X, Lu J. Use of Oculomotor Behavior to Classify Children with Autism and Typical Development: A Novel Implementation of the Machine Learning Approach. J Autism Dev Disord;2022 (Aug 1)

This study segmented the time series of gaze behavior from nineteen children with autism spectrum disorder (ASD) and 20 children with typical development in a face-to-face conversation. A machine learning approach showed that behavior segments produced by these two groups of participants could be classified with the highest accuracy of 74.15%. These results were further used to classify children using a threshold classifier. A maximum classification accuracy of 87.18% was achieved, under the condition that a participant was considered as ‘ASD’ if over 46% of the child’s 7-s behavior segments were classified as ASD-like behaviors. The idea of combining the behavior segmentation technique and the threshold classifier could maximally preserve participants’ data, and promote the automatic screening of ASD.

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