1. Asbury K, Toseeb U. A longitudinal study of the mental health of autistic children and adolescents and their parents during COVID-19: Part 2, qualitative findings. Autism : the international journal of research and practice. 2022: 13623613221086997.

We know that autistic children and young people, and their caregivers, are at increased risk of mental ill health. We asked whether the first 6 months of COVID-19 exacerbated that risk, and whether the implications were different for autistic pupils and their caregivers, than for those with other special educational needs and difficulties. In a linked paper, we found that caregivers of autistic pupils reported higher levels of depression and anxiety symptoms in their children than parents of children with other special educational needs and difficulties (Toseeb & Asbury, 2022). For pupils with other special educational needs and difficulties, their parent-reported anxiety symptoms eased over time while remaining high throughout for autistic pupils. There were no differences in mental health and wellbeing between caregivers of autistic pupils and those with other special educational needs and difficulties. Here, we used parents’ written descriptions of their own and their child’s mental health during the first 6 months of COVID-19 to explore these linked findings in greater depth. We identified strong evidence of worry and distress for all, but most prominently autistic children and young people. Our finding that worry and distress declined over time for pupils with other special educational needs and difficulties, but not for autistic pupils, was supported and we observed a few differences between caregivers. We also found evidence of wellbeing throughout the sample, and examples of some (mainly autistic) pupils benefitting from a reduction in demands (e.g. going to school). This has implications for our understanding of the school experience for autistic pupils. Findings suggest that the mental health of autistic children and young people may have been disproportionately affected during the first 6 months of COVID-19 and that careful consideration of optimal support, from both health and education perspectives, is vital.

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2. Goldman KJ, DeLeon IG. Increasing selection of and engagement in physical activity in children with autism spectrum disorder. Journal of applied behavior analysis. 2022.

Children with autism spectrum disorder (ASD) engage in reduced levels of physical activity relative to neurotypical children. Researchers conducted 2 studies to 1) evaluate the influence of the number of physical activity options and effort on choice and 2) develop a token-based intervention to increase physical activity engagement and evaluate whether the opportunity to access the intervention supported responding similar to physical or sedentary activity alone. Four children with ASD participated. Additional physical activity options alone did not increase physical activity selection, but increased effort reduced selection of sedentary activity. Tokens increased physical activity for 2 participants. A combination of physical and sedentary activities maintained as much as or more responding than either activity in isolation for all participants. Limitations and potential areas of future research on choice and physical activity are discussed.

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3. Hart LC, Msall ME. Defining A High-Quality Transition for Youth With Intellectual and Developmental Disabilities. Pediatrics. 2022.

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4. Lane AE, Simpson K, Masi A, Grove R, Moni MA, Montgomery A, Roberts J, Silove N, Whalen O, Whitehouse AJO, Eapen V. Patterns of sensory modulation by age and sex in young people on the autism spectrum. Autism research : official journal of the International Society for Autism Research. 2022.

Sensory modulation symptoms form a diagnostic criterion for autism spectrum disorder and are associated with significant daily functional limitations. Utilizing caregiver report on Short Sensory Profile-2 (SSP-2) for 919 autistic children (3-14.11 years), we examined the expression of sensory modulation symptoms by age and sex and investigated the existence of specific sensory modulation subtypes. Sensory modulation symptoms appeared to peak in frequency during middle childhood, particularly in sensory sensitivity and avoidance. Symptoms associated with sensory hypo-reactivity and seeking tended not differ between age cohorts. Males and females demonstrated similar overall sensory modulation profiles, however, females showed elevated symptoms relating to sensory sensitivity. Model-based cluster analysis revealed five interpretable sensory modulation subtypes which related to symptom severity (low, mid-range, high). Subtypes demonstrating mid-range symptom severity differed in focus on sensory hyper-reactivity or seeking symptoms. The findings of this study report for the first time that age-related differences in sensory modulation symptoms may be associated with sensory hyper-reactivity only. The subtyping results also suggest that sensory modulation symptom severity is a reliable means of classifying variance within autistic children, however, consideration of differences in the behavioral strategies employed by individuals to manage sensory modulation symptoms may inform tailored supportive strategies.

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5. Ozbaran NB, Ozyasar SC, Dogan N, Kafali HY, Isik E, Satar A, Kose S, Atik T, Cogulu O. Evaluation of social cognition, autistic traits, and dysmorphology in comorbid specific learning disorder and attention-deficit/hyperactivity disorder. Clinical child psychology and psychiatry. 2022: 13591045221095428.

Research on areas such as social cognition, autistic traits, and minor physical anomalies in comorbid Specific Learning Disorder (SLD) and attention-deficit/hyperactivity disorder (ADHD) is limited. In this study, we compared these areas in children aged between 8 and 14 with comorbid SLD and ADHD and their typically developed peers. Emotion recognition and social cognition were evaluated by Faces Test, Reading the Mind in the Eyes Test, Comprehension Test, and Difficulties in Emotion Regulation Scale. Autism Spectrum Screening Questionnaire and Social Responsiveness Scale were used for screening of autism spectrum disorder in children. Furthermore, autistic traits in parents were measured by Autism-Spectrum Quotient. The MPAs of all the subjects were determined by pediatric geneticists. We detected that children with comorbid SLD and ADHD performed worse than controls in all social cognition tests and maternal AQ score had a strong correlation with the Faces Test, DERS, and SRS scores. Also, the total ASSQ score in the comorbid SLD and ADHD group was significantly higher than controls. Finally, MPAs were significantly more frequent in the comorbid SLD and ADHD group. Impairment in social cognition and evaluation of autistic traits and dysmorphology in children with comorbid SLD and ADHD may provide useful information on neurodevelopmental disorders.

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6. Tajik-Parvinchi D, Rosenbaum P, Hidecker MJC, Duku E, Zwaigenbaum L, Roncadin C, Georgiades S, Gentles S, Fang H, Di Rezze B. Construct Validity of the Autism Classification System of Functioning: Social Communication (ACSF:SC) Across Childhood and Adolescence. Journal of autism and developmental disorders. 2022.

This study examined the construct validity of the Autism Classification System of Functioning: Social Communication (ACSF). Participants included 145 parents of children with autism (2-19 years). The degree of convergent and discriminant validity between parent reported ACSF and subscales from Social Responsiveness Scale 2nd edition and Behavior Assessment System for Children, 3rd Edition were examined against a priori hypotheses. We examined construct validity in the entire sample as well as in specific age cohorts. Our findings suggest that ACSF can provide a valid classification system of social communication ability in children with autism 2-19 years of age, and its two subscales may be used to examine different aspects of social communication ability.

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7. Teles ESAL, Glaser T, Griesi-Oliveira K, Corrêa-Velloso J, Wang JYT, da Silva Campos G, Ulrich H, Balan A, Zarrei M, Higginbotham EJ, Scherer SW, Passos-Bueno MR, Sertié AL. Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder. Translational psychiatry. 2022; 12(1): 234.

Oligogenic inheritance of autism spectrum disorder (ASD) has been supported by several studies. However, little is known about how the risk variants interact and converge on causative neurobiological pathways. We identified in an ASD proband deleterious compound heterozygous missense variants in the Reelin (RELN) gene, and a de novo splicing variant in the Cav3.2 calcium channel (CACNA1H) gene. Here, by using iPSC-derived neural progenitor cells (NPCs) and a heterologous expression system, we show that the variant in Cav3.2 leads to increased calcium influx into cells, which overactivates mTORC1 pathway and, consequently, further exacerbates the impairment of Reelin signaling. Also, we show that Cav3.2/mTORC1 overactivation induces proliferation of NPCs and that both mutant Cav3.2 and Reelin cause abnormal migration of these cells. Finally, analysis of the sequencing data from two ASD cohorts-a Brazilian cohort of 861 samples, 291 with ASD; the MSSNG cohort of 11,181 samples, 5,102 with ASD-revealed that the co-occurrence of risk variants in both alleles of Reelin pathway genes and in one allele of calcium channel genes confer significant liability for ASD. Our results support the notion that genes with co-occurring deleterious variants tend to have interconnected pathways underlying oligogenic forms of ASD.

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8. Toseeb U, Asbury K. A longitudinal study of the mental health of autistic children and adolescents and their parents during COVID-19: Part 1, quantitative findings. Autism : the international journal of research and practice. 2022: 13623613221082715.

Autistic children and adolescents, and their parents/carers, tend to experience more symptoms of anxiety and depression compared to those with other special educational needs and disabilities. The rapid change in society as a result of the COVID-19 pandemic is likely to have disproportionately affected autistic young people and their parents/carers. We investigated how the mental health of autistic young people, and their parents/carers, developed during the first lockdown in the United Kingdom and how it changed once schools fully reopened for face-to-face teaching approximately 6 months later. Parents/carers completed online standardised questionnaires about their own and their child’s mental health at four time points between March 2020 and October 2020. We found that, throughout this period, autistic young people experienced more symptoms of anxiety and depression compared to those with other special educational needs and disabilities. Anxiety levels decreased as lockdown progressed and schools reopened for face-to-face teaching but only for those with other special educational needs and disabilities. For autistic young people, both anxiety and depression symptoms remained high throughout. There were no differences in the mental health of parents/carers of autistic children compared to those with other special educational needs and disabilities. These findings suggest that the mental health of autistic children and adolescents is likely to have been disproportionately affected during and after the first lockdown in the United Kingdom. In the second part of this article (Asbury & Toseeb, 2022), we attempt to explain these trends using qualitative data provided by parents during the same period.

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9. Wu S, Jiang C, Li J, Zhang G, Shen Y, Wang J. A novel missense variant in the CASK gene causes intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia. BMC medical genomics. 2022; 15(1): 127.

BACKGROUND: Variants in the CASK gene result in a wide range of observed phenotypes in humans, such as FG Syndrome 4 and intellectual disabilities. Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia (MICPCH) is an X-linked disorder that affects females and is characterized by severely impaired intellectual development and variable degrees of pontocerebellar hypoplasia. Variants in CASK are the main genetic cause of MICPCH. Variants in CASK can explain most patients with MICPCH, but there are still some patients whose disease aetiology cannot be explained. CASE PRESENTATION: An 11-month-old female diagnosed with MICPCH exhibited general developmental delays, microcephaly, and cerebellar hypoplasia. Whole-exome sequencing (WES) was used to find a novel heterozygous missense variant (NM_003688.3: c.638T>G) of CASK in this patient. Strikingly, this variant reduced the expression of CASK at the protein level but not at the mRNA level. By using protein structure prediction analysis, this study found that the amino acid change caused by the variant resulted in further changes in the stability of the protein structure, and these changes caused the downregulation of protein expression and loss of protein function. CONCLUSION: In this study, we first reported a novel heterozygous pathogenic variant and a causative mechanism of MICPCH. The amino acid change cause by this variant led to changes in the protein structure and a decrease in its stability, which caused a loss of protein function. This study could be helpful to the genetic diagnosis of this disease.

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