1. 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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2. 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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3. 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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4. 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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5. 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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6. 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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7. 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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8. 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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9. 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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10. 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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11. 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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12. 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; (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 multi-modalities (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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13. 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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14. 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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15. 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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16. 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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17. Matsuzaki H, Fukunaga K. Editorial: Environmental risk factors in autism spectrum disorder. Front Psychiatry;2022;13:978489.

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18. 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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19. 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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20. Passias PG, Krol O, Williamson TK, Lafage V, Lafage R, Smith JS, Line B, Vira S, Lipa S, Daniels A, Diebo B, Schoenfeld A, Gum J, Kebaish K, Park P, Mundis G, Hostin R, Gupta M, Eastlack R, Anand N, Ames C, Hart R, Burton D, Schwab FJ, Shaffrey C, Klineberg E, Bess S. The Benefit of Addressing Malalignment In Revision Surgery for Proximal Junctional Kyphosis Following ASD Surgery. Spine (Phila Pa 1976);2022 (Sep 8)

STUDY DESIGN: Retrospective cohort study. OBJECTIVE: Understand the benefit of addressing malalignment in revision surgery for PJK. SUMMARY OF BACKGROUND DATA: Proximal junctional kyphosis(PJK) is a common cause of revision surgery for ASD patients. During a revision, surgeons may elect to perform a proximal extension of the fusion, or also correct the source of the lumbo-pelvic mismatch. METHODS: Recurrent PJK following revision surgery was the primary outcome. Revision surgical strategy was the primary predictor(proximal extension of fusion alone compared to combined sagittal correction and proximal extension). Multivariable logistic regression determined rates of recurrent PJK between the two surgical groups with lumbo-pelvic surgical correction assessed through improving ideal alignment in one or more alignment criteria(Global Alignment and Proportionality[GAP],Roussouly-type, and Sagittal Age-Adjusted Score[SAAS]). RESULTS: 151 patients underwent revision surgery for PJK. PJK occurred at a rate of 43.0%, and PJF at 12.6%. Patients proportioned in GAP post-revision had lower rates of recurrent PJK(23% vs. 42%;OR: 0.3,95% CI:[0.1-0.8];P=0.024). Following adjusted analysis, patients who were ideally aligned in 1 of 3 criteria (Matching in SAAS and/or Roussouly matched and/or achieved GAP proportionality) had lower rates of recurrent PJK (36% vs. 53%;OR: 0.4,95% CI:[0.1-0.9];P=0.035) and recurrent PJF(OR: 0.1,95% CI:[0.02-0.7];P=0.015). Patients ideally aligned in 2 of 3 criteria avoid any development of PJF(0% vs. 16%, P<0.001). CONCLUSION: Following revision surgery for proximal junctional kyphosis, patients with persistent poor sagittal alignment showed increased rates of recurrent proximal junctional kyphosis compared with patients who had abnormal lumbo-pelvic alignment corrected during the revision. These findings suggest addressing the root cause of surgical failure in addition to proximal extension of the fusion may be beneficial.

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21. 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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22. 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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23. 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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24. 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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25. 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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26. 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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27. 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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28. 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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29. 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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30. 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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31. 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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32. 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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33. 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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