1. Adnan M, Motiwala F, Trivedi C, Chaudhari G, Mansuri Z, Jain S. Human Umbilical Cord Blood Infusions in the Management of Autism Spectrum Disorder. The primary care companion for CNS disorders. 2022; 24(3).

Objective: To provide an overview of the role of umbilical cord blood (UCB) in managing autism spectrum disorder (ASD) symptoms in children aged 4-8 years. Data Sources: A systematic literature search was conducted using the terms (autism OR autism spectrum disorder AND umbilical cord blood infusion UCB OR umbilical cord blood). The review was limited to articles published in the English language from 1945 to September 2020. The database search included PubMed, Scopus, and EMBASE. Study Selection: The initial search revealed 165 hits of potential relevance. Data Extraction: The articles were analyzed to obtain clinical information relevant to meeting the review objectives. Data Synthesis: After title, abstract, and full article review, 3 UCB studies were selected for analysis. Results: The systematic review showed mixed results. In the first study, improvements were seen in the socialization and communication domains and adaptive behavior with UCB infusion. The Pervasive Developmental Disorder Behavior Inventory composite T score and Expressive One-Word Picture Vocabulary Test (EOWPVT) score also improved. Symptomatic improvement was seen in half of the patients. The second study showed no improvement in the EOWPVT, Receptive One-Word Picture Vocabulary Test, Clinical Global Impressions scale, or Vineland Adaptive Behavior Scales (VABS), second edition. The third study showed nonsignificant improvement in the VABS, third edition socialization scale scores; however, major improvement in the communication domain was seen for those with nonverbal IQ ≥ 70. No serious adverse events were reported in any of the studies. Conclusion: Few studies have evaluated the role of UCB infusion in addressing symptoms of ASD. Due to the limited number of studies, more research is warranted.

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2. Aglinskas A, Hartshorne JK, Anzellotti S. Contrastive machine learning reveals the structure of neuroanatomical variation within autism. Science (New York, NY). 2022; 376(6597): 1070-4.

Autism spectrum disorder (ASD) is highly heterogeneous. Identifying systematic individual differences in neuroanatomy could inform diagnosis and personalized interventions. The challenge is that these differences are entangled with variation because of other causes: individual differences unrelated to ASD and measurement artifacts. We used contrastive deep learning to disentangle ASD-specific neuroanatomical variation from variation shared with typical control participants. ASD-specific variation correlated with individual differences in symptoms. The structure of this ASD-specific variation also addresses a long-standing debate about the nature of ASD: At least in terms of neuroanatomy, individuals do not cluster into distinct subtypes; instead, they are organized along continuous dimensions that affect distinct sets of regions.

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3. Albekairi NA, Nadeem A, Ansari MA, Attia SM, Bakheet SA, Alanazi MM, Alhamed AS, Albekairi TH, Al-Mazroua HA, Ibrahim KE, Ahmad SF. CXCR2 antagonist SB332235 mitigates deficits in social behavior and dysregulation of Th1/Th22 and T regulatory cell-related transcription factor signaling in male BTBR T(+) Itpr3(tf)/J mouse model of autism. Pharmacology, biochemistry, and behavior. 2022; 217: 173408.

Autism spectrum disorders is a complex neurodevelopmental disorder characterized by abnormal social interaction, defective communication, repetitive and stereotyped patterns of behaviors or interests. The BTBR T(+) Itpr3(tf)/J (BTBR) inbred mice are generally used as a model for ASD, display a range of autistic phenotypes. Recent studies suggest that the CXCR2 antagonist is crucial for targets in the treatment of inflammatory and neurodegenerative diseases. In this study, we investigated the potential effects of the CXCR2 antagonist SB332235 on sociability behaviors, marble burying, and self-grooming, we also explored the treatment of SB332235 on Th1 (IFN-γ, Stat1, and T-bet), Th22 (IL-22, TNF-α, and AhR), and T regulatory (Treg, IL-10, Helios and Foxp3) production in CD4(+) T cells in male BTBR and C57BL/6 (C57) mice in spleen. We also investigated the effects of SB332235 on IFN-γ, IL-10, IL-22, T-bet, AhR, and Foxp3 mRNA expression levels in the brain tissues. The SB332235-treated mice significantly improve behavioral abnormalities in BTBR mice. In addition, SB332235 administration causes a significantly decreases in IFN-γ, Stat1, T-bet, IL-22, TNF-α, and AhR, and increases in IL-10, Foxp3 and Helios production CD4(+) T cells in BTBR mice. We further observed that SB332235 downregulated IFN-γ, IL-10, IL-22, T-bet, and AhR, and upregulated IL-10 and Foxp3 mRNA expression in the brain tissues. Our findings demonstrated that SB332235 treatment attenuated behavior deficits, through inhibiting Th1/Th22 and upregulating Treg cell-related transcription factors signaling pathway. Therefore, CXCR2 antagonist administration may be a promising therapeutic agent to attenuate behavior deficits via its anti-inflammatory effect.

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4. Alvares GA, Mekertichian K, Rose F, Vidler S, Whitehouse AJO. Dental care experiences and clinical phenotypes in children on the autism spectrum. Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry. 2022.

AIMS: Children diagnosed with autism spectrum disorder may be at higher likelihood of experiencing poorer oral health and difficulties accessing dental health care. However, identifying which children on the autism spectrum may be more vulnerable to experiencing dental care difficulties is still unknown. This study investigated parental reports of oral health and dental service needs of children diagnosed with autism and explored relationships with clinical phenotypes. METHODS AND RESULTS: Participants (n = 140) were parents of children on the autism spectrum who had participated in a large national biobank study, the Australian Autism Biobank, invited to complete additional surveys about oral health, service use, and barriers to care. One third of parents reported their child’s oral health was worse than other children the same age, with 26% reporting untreated dental problems. A third of children were reported to have undergone general anaesthesia at least once for dental procedures. Children who had undergone general anaesthesia were more likely to have intellectual disability and greater functional difficulties. Parents of children with greater functional limitations and sensory challenges reported experiencing barriers to accessing dental care more frequently. CONCLUSION: These results have important implications for paediatric dentists working with children diagnosed with autism with co-occurring intellectual, functional, and sensory challenges. Findings may inform the development of more personalised autism-specific supports.

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5. Andrade C. Attention-Deficit/Hyperactivity Disorder, Autism Spectrum Disorder, and Other Neurodevelopmental Outcomes Associated With Antipsychotic Drug Exposure During Pregnancy. The Journal of clinical psychiatry. 2022; 83(3).

Between 0.3%-4.6% of women use antipsychotic (AP) drugs during pregnancy. Two large, retrospective, population-based cohort studies, conducted in Nordic countries and in the US, examined the risk of neurodevelopmental disorders (NDDs) following gestational exposure to APs. The Nordic study found that, in unadjusted analyses, exposure to APs during pregnancy was associated with increased risk of attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) in offspring; that the risk all but disappeared after adjusting for covariates; and that the risk appeared to be related to maternal major mental illness rather than to gestational exposure to APs. The US study also found that, in unadjusted analyses, gestational exposure to APs was associated with an increased risk of almost all of the study-specified NDDs in offspring; however, after adjusting for covariates, the risks were no longer meaningfully increased and, importantly, were no longer statistically significant for ADHD and ASD. Thus, these 2 studies suggest that gestational exposure to APs is a marker of NDD risk in offspring rather than a potential cause. Whereas a small but significantly increased risk was identified for aripiprazole in the US study, the signal was inconsistent across analyses, and confounding due to maternal mental illness was not ruled out. Previous studies have suggested that the use of APs during pregnancy is not associated with an increased risk of major congenital malformations and other adverse gestational outcomes. Considering the potential harm and suffering associated with major mental illness and the very low risks associated with AP use during pregnancy, initiation or continuation of APs appears to carry a favorable risk-benefit ratio in pregnant women who need these drugs; however, decision-making should be shared between patients, their caregivers, and the treating team.

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6. Antaki D, Guevara J, Maihofer AX, Klein M, Gujral M, Grove J, Carey CE, Hong O, Arranz MJ, Hervas A, Corsello C, Vaux KK, Muotri AR, Iakoucheva LM, Courchesne E, Pierce K, Gleeson JG, Robinson EB, Nievergelt CM, Sebat J. A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex. Nature genetics. 2022.

The genetic etiology of autism spectrum disorder (ASD) is multifactorial, but how combinations of genetic factors determine risk is unclear. In a large family sample, we show that genetic loads of rare and polygenic risk are inversely correlated in cases and greater in females than in males, consistent with a liability threshold that differs by sex. De novo mutations (DNMs), rare inherited variants and polygenic scores were associated with various dimensions of symptom severity in children and parents. Parental age effects on risk for ASD in offspring were attributable to a combination of genetic mechanisms, including DNMs that accumulate in the paternal germline and inherited risk that influences behavior in parents. Genes implicated by rare variants were enriched in excitatory and inhibitory neurons compared with genes implicated by common variants. Our results suggest that a phenotypic spectrum of ASD is attributable to a spectrum of genetic factors that impact different neurodevelopmental processes.

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7. Babu NV, Roy A. Comparative Analysis of the Status of Dental Caries and Selected Salivary Electrolytes in Children with Autism. International journal of clinical pediatric dentistry. 2022; 15(Suppl 2): S242-s6.

AIM: Autism has been defined as a neurological developmental disability. Children with autism have a higher risk of developing dental caries, due to various factors. The study focuses to compare the dental caries status with respect to the variation in selected salivary constituents [calcium, phosphorus, sodium, potassium, magnesium, and urea] in autistic children and healthy children. MATERIALS AND METHODS: Hundred children participated in the study. The study group included 50 children who were prediagnosed with autism from various autistic institutions across Bengaluru. The control group comprised of 50 healthy children who visited the Department of Pediatric and Preventive Dentistry for a routine check-up. Assessment of salivary constituents was done using salivary kits and dental caries status was recorded. Descriptive statistics was implemented to evaluate the mean and standard deviation of the study and control groups. Normality of the data was assessed using Shapiro Wilkinson test. The difference in results between the groups was calculated using the independent t-test. RESULTS: A significant decrease was observed in the concentration levels of calcium, sodium, potassium, phosphorus, urea and a significant increase was observed in the concentration level of magnesium in the study group consisting of autistic children when compared to the control group consisting of healthy children. DMFT/dmft scores were seen to be higher in autistic children when compared to healthy children. CONCLUSION: In this study, children with autism were seen to have a higher susceptibility to developing dental caries when compared to healthy children from the same age-group. CLINICAL SIGNIFICANCE: The variations in the electrolytic salivary concentrations of calcium, sodium, potassium, chloride, phosphorus, and urea in autistic children could be stated as one of causative factors for the increased DMFT/dmft scores in them when compared to the control group consisting of healthy children. HOW TO CITE THIS ARTICLE: Babu NSV, Roy A. Comparative Analysis of the Status of Dental Caries and Selected Salivary Electrolytes in Children with Autism. Int J Clin Pediatr Dent 2022;15(S-2):S242-S246.

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8. Boone KM, Klebanoff MA, Rogers LK, Rausch J, Coury DL, Keim SA. Effects of Omega-3-6-9 fatty acid supplementation on behavior and sleep in preterm toddlers with autism symptomatology: Secondary analysis of a randomized clinical trial. Early human development. 2022; 169: 105588.

BACKGROUND: Children born extremely preterm disproportionately experience sequelae of preterm birth compared to those born at later gestational ages, including higher prevalence of autism spectrum disorder (ASD) and associated behaviors. AIM: Explore effects of combined dietary docosahexaenoic acid, eicosapentaenoic acid, gamma-linolenic acid, and oleic acid (omega 3-6-9) on caregiver-reported behavior and sleep in toddlers born at ≤29 weeks’ gestation who were exhibiting symptoms commonly seen with ASD. STUDY DESIGN: 90-day randomized (1:1), double blinded, placebo-controlled trial. SUBJECTS: Thirty-one children aged 18-38 months received omega 3-6-9 (n = 15) or canola oil placebo (n = 16). OUTCOME MEASURES: Mixed effects regression analyses followed intent to treat and explored treatment effects on measures of caregiver-reported behavior (Child Behavior Checklist 1.5-5, Toddler Behavior Assessment Questionnaire – Short Form, Vineland Adaptive Behavior Scales, 2nd Edition) and sleep (Children’s Sleep Habits Questionnaire, Brief Infant Sleep Questionnaire). RESULTS: Twenty-nine of 31 (94%; n(tx) = 13, n(placebo) = 16) children randomized had data available for at least one outcome measure, 27 (87%; n(tx) = 12, n(placebo) = 15) had complete outcome data. Children randomized to omega 3-6-9 experienced a medium magnitude benefit of supplementation on anxious and depressed behaviors (Δ(Difference) = -1.27, d = -0.58, p = 0.049) and internalizing behaviors (Δ(Difference) = -3.41, d = -0.68, p = 0.05); and a large magnitude benefit on interpersonal relationship adaptive behaviors (Δ(Difference) = 7.50, d = 0.83, p = 0.01), compared to placebo. No effects were observed on other aspects of behavior or sleep. CONCLUSIONS: Findings provide preliminary support for further exploration of omega 3-6-9 during toddlerhood to improve socioemotional outcomes among children born preterm, especially for those showing early symptoms commonly seen with ASD. Results need to be replicated in a larger sample. TRIAL REGISTRATION: Registered with ClinicalTrials.gov: NCT01683565.

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9. Bourson L, Prevost C. Characteristics of restricted interests in girls with ASD compared to boys: a systematic review of the literature. European child & adolescent psychiatry. 2022.

The existence of a female phenotype profile in autistic spectrum disorder is one of the current hypotheses to explain the diagnostic discrepancy between men and women. In this context, an international literature review was carried out to evidence and describe the characteristics of restricted interests found in girls with autistic spectrum disorder. A documentary search was conducted on PubMed and a systematic literature review was carried out based on the PRISMA methodology. We selected studies with a population of boys and girls diagnosed as autistic according to the DSM-IV or the DSM-5, in which quantitative and descriptive comparisons of restricted interests, according to gender were carried out. Nineteen studies were found to be relevant. Fifteen enabled a refining of the characteristics of restricted interests among females: fewer restricted interests were identified in comparison with boys, and the autistic girls’ interests seem to be closer to those of neurotypical girls than to those of autistic boys, which thus led to more complex screening. Age and Intelligence quotient seem to be two factors that trigger variations in restricted interests differently according to gender. Representations among professionals also have an impact on diagnoses among girls. For future research, one of the perspectives could be a comparison between girls with autism and neurotypical girls to limit gender bias. The present results contribute to potentially extending knowledge of a female phenotypical profile in autism and show the need to improve the general population’s awareness, to improve health professionals’ training and possibly to revise the diagnostic tools.

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10. Bragg M, Chavarro JE, Hamra GB, Hart JE, Tabb LP, Weisskopf MG, Volk HE, Lyall K. Correction to: Prenatal Diet as a Modifier of Environmental Risk Factors for Autism and Related Neurodevelopmental Outcomes. Current environmental health reports. 2022.

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11. Chen KL, Yang HC, Lin YC, Yu YT, Lai SS. Cognitive Predictors of Social Interaction in Daily Contexts Among Children With Autism Spectrum Disorder. The American journal of occupational therapy : official publication of the American Occupational Therapy Association. 2022; 76(3).

IMPORTANCE: Theory of mind (ToM) and executive function (EF) are often used to explain social interaction deficits in children with autism spectrum disorder (ASD), but no behavioral studies have specifically examined their relationship. OBJECTIVE: To investigate the cognitive correlates of social interaction in daily contexts by ToM as well as cool and hot EFs among children with ASD. DESIGN: Cross-sectional study. SETTING: Teaching hospitals, clinics, and developmental centers. PARTICIPANTS: One hundred thirty-two children with ASD and their caregivers. OUTCOMES AND MEASURES: Measurements included the Vineland Adaptive Behavior Scales, Theory of Mind Task Battery, Dimensional Change Card Sort, and Children’s Gambling Task, respectively, for children’s daily social interaction, ToM, cool EF, and hot EF. Pearson’s correlation analyses and three hierarchical regression models were conducted to identify the significant predictors of daily social interaction while controlling for verbal comprehension, measured using the Verbal Comprehension Index (VCI) of two Wechsler scales. RESULTS: ToM and cool EF were significant cognitive predictors of social interaction in daily contexts in children with ASD whose verbal comprehension was average or above average. CONCLUSIONS AND RELEVANCE: Our results suggest that ToM and cool EF are predictors of social interaction in daily contexts when considering children’s verbal comprehension. Hot EF was not a significant predictor, contrary to our hypothesis. This behavioral study fills a research gap by enhancing the understanding of important cognitive correlates of social interaction in daily contexts for children with ASD to improve evaluation and intervention planning with this population. What This Article Adds: This study identified two cognitive predictors, ToM and cool EF, of social interaction in daily contexts for children with ASD. In addition to verbal comprehension, occupational therapy practitioners should assess ToM and cool EF to inform more comprehensive evaluation and intervention planning to improve social interaction in daily contexts for children with ASD.

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12. Dan B. The many languages of developmental disability research. Developmental medicine and child neurology. 2022; 64(7): 808-9.

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13. Das DK, Udani V. Coexistence of Rett & Angelman syndrome: A rare clinical presentation. The Indian journal of medical research. 2022.

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14. Edwards M, Huang M, Joseph S. The Fragile X Protein Disordered Regions Bind a Novel RNA Target. Biochemistry. 2022.

The fragile X proteins (FXPs) are a family of RNA-binding proteins that regulate mRNA translation to promote proper neural development and cognition in mammals. Of particular interest to researchers is the fragile X mental retardation protein (FMRP), as its absence leads to a neurodevelopmental disorder: fragile X syndrome (FXS), the leading monogenetic cause of autism spectrum disorders. A primary focus of research has been to determine mRNA targets of the FXPs in vivo through pull-down techniques, and to validate them through in vitro binding studies; another approach has been to perform in vitro selection experiments to identify RNA sequence and structural targets. These mRNA targets can be further investigated as potential targets for FXS therapeutics. The most established RNA structural target of this family of proteins is the G-quadruplex. In this article, we report a 99 nucleotide RNA target that is bound by all three FXPs with nanomolar equilibrium constants. Furthermore, we determined that the last 102 amino acids of FMRP, which includes the RGG motif, were necessary and sufficient to bind this RNA target. To the best of our knowledge, this is one of only a few examples of non-G-quadruplex, non-homopolymer RNAs bound by the RGG motif/C-termini of FMRP.

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15. Ezeh TH, Lee BK, Rast JE. The Medical Home and Use of Mental and Non-mental Specialty Services Among Children with Autism Spectrum Disorder (ASD). Journal of autism and developmental disorders. 2022.

This study assessed the relationship between the medical home and use of health services among children with autism spectrum disorder (ASD). Data from 2016 to 2018 National Survey of Children’s Health was analyzed. Outcome measures were receipt of mental and non-mental specialty care, difficulty receiving needed mental and non-mental specialty care and unmet need for mental care. Having a medical home was associated with significantly lower odds of having unmet mental health need for children with ASD ages 11-17 (OR 0.14, 95% CI 0.07-0.30) but not for those ages 3-10 (OR 0.54, 95% CI 0.21-1.43). Having a medical home was also associated with lower odds of difficulty getting needed mental health care (OR 0.38, 95% CI 0.22-0.66) as well as non-mental specialty care (OR 0.24, 95% CI 0.13-0.44).

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16. Frawley P, Wilson NJ, David J, O’Shea A, Areskoug Josefsson K. Access to Sexual Health Services and Support for People with Intellectual and Developmental Disabilities: an Australian Cross-sector Survey. Sexuality research & social policy : journal of NSRC : SR & SP. 2022: 1-9.

INTRODUCTION: People with intellectual and developmental disabilities under the United Nations Convention on the Rights of Persons with Disabilities (UNCRPD) have the right to access sexual health services including information, education, and support. Little is known about the capacity of sexual health professionals to provide these services. METHODS: Using an observational research design, this study utilised a descriptive survey tool (PASH-Ext) that also encompassed a standardised measure, with a cross-sectional purposive sample of 52 Australian sexual health professionals. Data was collected in 2020. RESULTS: Just over half of the participants reported having received training in their preservice education to work with people with intellectual and developmental disabilities, of these 60% held the view that people with intellectual and developmental disabilities would not feel embarrassed receiving sexual health information and support. CONCLUSION: The study found that training is both important to the professionals’ preparedness to work with people with intellectual and developmental disabilities, and that these professionals advocate for the continuation of this training in pre-service courses and additional training in post service education for sexual health workers. POLICY IMPLICATIONS: To progressively realise Article 25 of the UNCRPD signatory, countries need to ensure sexual health services are accessible to people with intellectual and developmental disabilities. This study recommends that sexual health policy addresses equity of access for people with intellectual and developmental disability by ensuring all staff are prepared and supported to provide these services.

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17. Guan J, Zhuang Y, Kang Y, Ji G. Shared and Cell-Type-Specific Gene Expression Patterns Associated With Autism Revealed by Integrative Regularized Non-Negative Matrix Factorization. Frontiers in genetics. 2022; 13: 865371.

Human brain-related disorders, such as autism spectrum disorder (ASD), are often characterized by cell heterogeneity, as the cell atlas of brains consists of diverse cell types. There are commonality and specificity in gene expression among different cell types of brains; hence, there may also be commonality and specificity in dysregulated gene expression affected by ASD among brain cells. Moreover, as genes interact together, it is important to identify shared and cell-type-specific ASD-related gene modules for studying the cell heterogeneity of ASD. To this end, we propose integrative regularized non-negative matrix factorization (iRNMF) by imposing a new regularization based on integrative non-negative matrix factorization. Using iRNMF, we analyze gene expression data of multiple cell types of the human brain to obtain shared and cell-type-specific gene modules. Based on ASD risk genes, we identify shared and cell-type-specific ASD-associated gene modules. By analyzing these gene modules, we study the commonality and specificity among different cell types in dysregulated gene expression affected by ASD. The shared ASD-associated gene modules are mostly relevant to the functioning of synapses, while in different cell types, different kinds of gene functions may be specifically dysregulated in ASD, such as inhibitory extracellular ligand-gated ion channel activity in GABAergic interneurons and excitatory postsynaptic potential and ionotropic glutamate receptor signaling pathway in glutamatergic neurons. Our results provide new insights into the molecular mechanism and pathogenesis of ASD. The identification of shared and cell-type-specific ASD-related gene modules can facilitate the development of more targeted biomarkers and treatments for ASD.

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18. He YS, Liu GH, Zhang YH, Xie NM, Lin JL, Hu RF. [Effect of parent-child cooperative music therapy on children with autism spectrum disorder and their mothers: a prospective randomized controlled study]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics. 2022; 24(5): 472-81.

OBJECTIVES: To study the effect of parent-child cooperative music therapy on the core symptoms of children with autism spectrum disorder (ASD) and their mothers. METHODS: In this prospective study, 112 children with ASD and their mothers were divided into a music therapy group and an applied behavior analysis (ABA) group using a random number table (n=56 each). The children in the ABA group were treated with ABA, and those in the music therapy group were given parent-child cooperative music therapy in addition to the ABA treatment. The duration of intervention was 8 weeks for both groups. Childhood Autism Rating Scale (CARS), Autism Behavior Checklist (ABC), Parenting Stress Index-Short form (PSI-SF), Family APGAR Index, and Herth Hope Index (HHI) were used to evaluate the core symptoms of children with ASD and the parenting stress, family APGAR index, and hope level of mothers before and after intervention. RESULTS: A total of 100 child-mother dyads completed the whole study, with 50 child-mother dyads in each group. After intervention, the children in the music therapy group had significantly lower total score of ABC scale and scores of sensation, social interaction, and somatic movement, as well as a significantly lower total score of CARS than those in the ABA group (P<0.05). After intervention, compared with the mothers in the ABA group, the mothers in the music therapy group had significantly higher total score of PSI-SF and score of parent-child dysfunctional interaction, significantly higher total score of HHI and scores of each dimension, and significantly higher total score of APGAR and scores of cooperation and intimacy (P<0.05). CONCLUSIONS: Parent-child cooperative music therapy combined with ABA can alleviate the core symptoms of children with ASD, reduce the parenting stress of their mothers, and improve family APGAR index and hope level.

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19. Hodges A, Cordier R, Joosten A, Bourke-Taylor H, Chen YW. Evaluating the feasibility, fidelity, and preliminary effectiveness of a school-based intervention to improve the school participation and feelings of connectedness of elementary school students on the autism spectrum. PloS one. 2022; 17(6): e0269098.

In My Shoes is a peer supported, teacher-led, school-based intervention that aims to improve the school participation and connectedness of students on the autism spectrum. The aim of this study was to explore the feasibility, fidelity, and preliminary effectiveness of In My Shoes in mainstream elementary schools. Ten Grade 3 and 4 students on the autism spectrum and 200 of their typically developing peers across eight classrooms and six schools participated. The following aspects of feasibility were explored: recruitment capability and sample characteristics, data collection procedures and outcome measures, appropriateness, implementation, and practicality of the intervention. Fidelity was explored by evaluating the delivery of intervention components against set criteria. Preliminary effectiveness was investigated by evaluating changes in intervention outcomes pre-post intervention using a range of outcome measures. Study findings are encouraging, suggesting In My Shoes is a feasible and appropriate intervention, and shows promise in improving the self-report school engagement of all student participants, as well the classroom participation and subjective school experiences of students on the autism spectrum. Useful insights into ways the intervention and the design of future research can be improved are discussed.

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20. Jiraanont P, Manor E, Tabatadze N, Zafarullah M, Mendoza G, Melikishvili G, Tassone F. De Novo Large Deletion Leading to Fragile X Syndrome. Frontiers in genetics. 2022; 13: 884424.

Fragile X syndrome (FXS) is the most frequent cause of X-linked inherited intellectual disabilities (ID) and the most frequent monogenic form of autism spectrum disorders. It is caused by an expansion of a CGG trinucleotide repeat located in the 5’UTR of the FMR1 gene, resulting in the absence of the fragile X mental retardation protein, FMRP. Other mechanisms such as deletions or point mutations of the FMR1 gene have been described and account for approximately 1% of individuals with FXS. Here, we report a 7-year-old boy with FXS with a de novo deletion of approximately 1.1 Mb encompassing several genes, including the FMR1 and the ASFMR1 genes, and several miRNAs, whose lack of function could result in the observed proband phenotypes. In addition, we also demonstrate that FMR4 completely overlaps with ASFMR1, and there are no sequencing differences between both transcripts (i.e., ASFMR1/FMR4 throughout the article).

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21. Lee H, Chen YJ, Sideris J, Watson LR, Crais ER, Baranek GT. Sensory Features of Young Children From a Large Community Sample: Latent Factor Structures of the Sensory Experiences Questionnaire (Version 2.1, Short Form). The American journal of occupational therapy : official publication of the American Occupational Therapy Association. 2022; 76(3).

IMPORTANCE: Although three sensory factors (hyperresponsiveness [HYPO]; hyporesponsiveness [HYPER]; and sensory interests, repetitions, and seeking behaviors [SIRS]) have been demonstrated among a wide age range of clinical populations, they have not been well validated in the general population, especially with a large community sample of young children. OBJECTIVE: To validate the factor structure of the Sensory Experiences Questionnaire (Version 2.1, Short Form; SEQv2.1) in a community sample and to confirm the factor structure’s existence in this sample. DESIGN: Caregivers completed the SEQv2.1, a parent-reported questionnaire designed to capture children’s everyday sensory experiences. The latent factors of the SEQv2.1 were examined using confirmatory factor analysis. SETTING: North Carolina. PARTICIPANTS: Caregivers of 2,195 children age 3 yr were initially recruited through state birth records and were eligible to participate if the child did not have a history of serious medical problems and English was the family’s primary language. OUTCOMES AND MEASURES: SEQv2.1. RESULTS: The SEQv2.1 showed validity in the community sample. Similar to previous research with clinical populations, the three broad patterns of sensory responsiveness were also confirmed in this large community sample of young children, but associations among the factors differed. CONCLUSIONS AND RELEVANCE: Validation of the three-sensory-factor structure in the general population suggests that these constructs are similar to those found with samples of participants with autism spectrum disorder and developmental disabilities. This finding underscores the importance of understanding the normative development of sensory features across a wider age range to better delineate qualitative differences underlying sensory features between clinical and general populations. What This Article Adds: Occupational therapists seeking to assess children’s sensory features can use the SEQv2.1 not only with clinical samples but also with children in the general population.

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22. Lee J, Healy S, Haegele JA. Environmental and social determinants of leisure-time physical activity in children with autism spectrum disorder. Disability and health journal. 2022: 101340.

BACKGROUND: It is increasingly recognized that children’s physical activity behaviors are shaped by neighborhood environment factors and their parent’s support. However, these factors have been scarcely studied among children with autism spectrum disorder (ASD), a population at risk of inactivity. OBJECTIVE: This cross-sectional survey study was designed to examine how neighborhood environmental factors and parental support are related to physical activity levels of children with ASD. Also, this study examined if the relationship between the environment and physical activity is modified by demographic factors and COVID-19 related concerns. METHODS: An online survey was completed by parents of children with ASD aged 10-17 years. The questionnaire included items related to environmental factors (i.e., distance to school, distance to park, existence of sidewalks, walkability), parent support for physical activity (i.e., encouraging, watching, and providing transportation), child’s physical activity, and demographic characteristics. The instrument also queried parental concerns about COVID-19 and their child’s physical activity participation. RESULTS: The results indicate that proximity to a local park and to school is positively associated with physical activity. Parent’s encouraging behavior correlated with and predicted children’s physical activity levels. Also, higher levels of COVID-19 related concerns among parents were related to decreased physical activity supporting behaviors. CONCLUSIONS: This study demonstrated that the neighborhood environment, in particular the distance between home and parks and schools, and parent support behavior are influential factors that may shape physical activity behaviors for children with ASD.

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23. Lewis LF. Autism as a difference or a disorder? Exploring the views of individuals who use peer-led online support groups for autistic partners. Autism : the international journal of research and practice. 2022: 13623613221097850.

Individuals who use peer-led online support groups for partners of autistics describe diverse views of autism, with some describing autism as a difference and others describing it as a disorder. I conducted online interviews with 162 non-autistics who believed they were in relationships with autistics and who participated in online support groups on social media. I analyzed their responses by constantly comparing each interview to previous interviews to develop a theory about their social experiences. As many as one-third of autistics participate in romantic relationships, and many of their partners seek support through groups on social media. Few studies explore what it is like to be a non-autistic person who is in a relationship with an autistic person. The way that participants viewed autism influenced the way that they viewed themselves, their partners, and their relationships. Many participants who were dissatisfied in their relationships shared that they believed their partners were autistic, but their partners had never been formally evaluated and did not self-identify as autistic. Future research should explore ways that autism labels are (mis)applied by the general public based on negative stereotypes about autism.

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24. Liufu T, Zheng Y, Yu J, Yuan Y, Wang Z, Deng J, Hong D. The polyG diseases: a new disease entity. Acta neuropathologica communications. 2022; 10(1): 79.

Recently, inspired by the similar clinical and pathological features shared with fragile X-associated tremor/ataxia syndrome (FXTAS), abnormal expansion of CGG repeats in the 5′ untranslated region has been found in neuronal intranuclear inclusion disease (NIID), oculopharyngeal myopathy with leukoencephalopathy (OPML), and oculopharyngodistal myopathy (OPDMs). Although the upstream open reading frame has not been elucidated in OPML and OPDMs, polyglycine (polyG) translated by expanded CGG repeats is reported to be as a primary pathogenesis in FXTAS and NIID. Collectively, these findings indicate a new disease entity, the polyG diseases. In this review, we state the common clinical manifestations, pathological features, mechanisms, and potential therapies in these diseases, and provide preliminary opinions about future research in polyG diseases.

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25. Lui M, Lau GKB, Han YMY, Yuen KCP, Sommer W. Strong Relationship Between Rapid Auditory Processing and Affective Prosody Recognition Among Adults with High Autistic Traits. Journal of autism and developmental disorders. 2022.

This study investigated whether individuals with high autistic traits rely on psychoacoustic abilities in affective prosody recognition (APR). In 94 college students, Autism Spectrum Quotient (AQ) and psychoacoustic abilities were measured. Results indicated that higher AQ, higher rapid auditory processing (RAP), and maleness were associated with a lower APR accuracy for low-intensity prosodies. There was a strong positive association between RAP and APR for participants with high AQ, whereas low-AQ participants showed no such pattern. The findings suggest a reliance on psychoacoustic abilities as compensatory mechanism for deficits in higher-order processing of emotional signals in social interactions, and imply potential benefits of auditory interventions in improving APR among individuals with high autistic traits.

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26. Milner V, Mandy W, Happé F, Colvert E. Sex differences in predictors and outcomes of camouflaging: Comparing diagnosed autistic, high autistic trait and low autistic trait young adults. Autism : the international journal of research and practice. 2022: 13623613221098240.

Many autistic people use strategies that help them adapt in social situations and hide behaviours that may seem different to non-autistic individuals – this is called camouflaging. Camouflaging may help autistic people fit in socially; however, it might also lead to poorer well-being. It has been suggested that autistic females camouflage more than autistic males. This article explored differences between males and females who have an autism diagnosis, have characteristics of autism but no diagnosis and those with few autistic characteristics. It is important to include these groups as camouflaging may make it more difficult to get an autism diagnosis and therefore make it less likely a person will receive support. We found that autistic women camouflaged more than all other groups. The group with few autistic characteristics (males and females) camouflaged the least. Loneliness was found to be a possible reason for camouflaging for the diagnosed autistic group only. In terms of outcomes related to camouflaging, it was found that those who camouflaged most had a lower quality of life; this was true of all groups. This tells us that there may be different reasons to camouflage, and different outcomes related to camouflaging for those with many characteristics of autism (including those with a diagnosis), and those with few. It is important that clinicians, teachers, parents and other stakeholders are aware of the negative outcomes associated with camouflaging so that more support can be provided for those who need it.

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27. Nicholas DB, Mitchell W, Ciesielski J, Khan A, Lach L. Examining the Impacts of the COVID-19 Pandemic on Service Providers Working with Children and Youth with Neuro-developmental Disabilities and their Families: Results of a Focus Group Study. Journal of intellectual disabilities : JOID. 2022: 17446295221104623.

Background: The COVID-19 pandemic has imposed unprecedented service interruptions in many sectors including services for children and youth with neuro-developmental disabilities (NDD). Methods: We examined the experiences of service providers as they supported this population during the pandemic. Five focus groups were convened with 24 service providers offering support to children/youth with NDD and their families. Results: Results highlight substantial service changes and challenges, as observed by service providers. Service closures and program delivery modification resulted in the rapid adoption of virtual services and reduced program delivery. Service providers have faced heightened workloads, personal weariness and ‘burn out’, and new levels of conflict at work, yet with little opportunity and support for self-care. Beyond challenges, new learning and growth have emerged, with heightened collaboration amongst organizations. Conclusion: Strains in service delivery during the pandemic have exposed programming and systems gaps, for which proactive capacity building is warranted and recommended.

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28. Parmar KR, Porter CS, Dickinson CM, Gowen E. Investigating eye examination-related anxiety in autistic adults. Clinical & experimental optometry. 2022: 1-7.

CLINICAL RELEVANCE: It is important to investigate whether anxiety is a barrier to accessing eye examinations for autistic adults, because existing research suggests this population are more likely to develop ophthalmic abnormalities. BACKGROUND: Anxiety influences healthcare accessibility for autistic people without learning disabilities. Previous qualitative studies by the research team, with a small sample of autistic adults, have indicated several aspects of eyecare services which cause anxiety. Considering the limited existing research suggesting autistic individuals are more likely to develop ophthalmic abnormalities, this study explored whether this population more widely experiences anxiety when accessing eye examinations. METHODS: A total of 322 UK-based autistic adults completed the Optometric Patient Anxiety Scale (OPAS) online, between July and December 2020. Rasch analysis was used to validate this questionnaire for an autistic adult population, and compare optometric anxiety levels to the general population. RESULTS: Item infit (0.77 to 1.39) and outfit (0.78 to 1.33) values, the person separation index (2.64), and item (0.99) and person (0.97) reliability coefficients suggested that all 10 items in the OPAS are useful to assess optometric anxiety in an autistic adult population. Item probability curves confirmed the response scale to be appropriate. A comparison of optometric anxiety between the autistic population in the current study and a general population in previous work found no statistically significant difference. CONCLUSION: The OPAS is a statistically valid tool for use in the autistic adult population. It appears to suggest no significant difference in optometric anxiety between the autistic adult and general population. However, it is possible that it underestimates the true optometric anxiety of autistic adults since the items do not include some of the anxiety provoking factors for this population which have been indicated in previous studies by the research team.

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29. Sadik A, Dardani C, Pagoni P, Havdahl A, Stergiakouli E, Khandaker GM, Sullivan SA, Zammit S, Jones HJ, Davey Smith G, Dalman C, Karlsson H, Gardner RM, Rai D. Parental inflammatory bowel disease and autism in children. Nature medicine. 2022.

Evidence linking parental inflammatory bowel disease (IBD) with autism in children is inconclusive. We conducted four complementary studies to investigate associations between parental IBD and autism in children, and elucidated their underlying etiology. Conducting a nationwide population-based cohort study using Swedish registers, we found evidence of associations between parental diagnoses of IBD and autism in children. Polygenic risk score analyses of the Avon Longitudinal Study of Parents and Children suggested associations between maternal genetic liability to IBD and autistic traits in children. Two-sample Mendelian randomization analyses provided evidence of a potential causal effect of genetic liability to IBD, especially ulcerative colitis, on autism. Linkage disequilibrium score regression did not indicate a genetic correlation between IBD and autism. Triangulating evidence from these four complementary approaches, we found evidence of a potential causal link between parental, particularly maternal, IBD and autism in children. Perinatal immune dysregulation, micronutrient malabsorption and anemia may be implicated.

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30. Siracusano M, Marcovecchio C, Riccioni A, Dante C, Mazzone L. Autism Spectrum Disorder and a De Novo Kcnq2 Gene Mutation: A Case Report. Pediatric reports. 2022; 14(2): 200-6.

The KCNQ2 gene, encoding for the K(v)7.2 subunits of the K(v)7 voltage potassium channel, is involved in the modulation of neuronal excitability and plays a crucial role in brain morphogenesis and maturation during embryonic life. De novo heterozygous mutations in KCNQ2 genes are associated with early-onset epileptic encephalopathy and neurodevelopmental disorders including developmental delay and intellectual disability. However, little is known about the socio-communicative phenotype of children affected by the KCNQ2 mutation, and a detailed behavioral characterization focused on autistic symptoms has not yet been conducted. This case report describes the clinical behavioral phenotype of a 6-year-old boy carrying a de novo heterozygous KCNQ2 mutation, affected by early-onset seizures and autism spectrum disorder (ASD). We performed a neuropsychiatric assessment of cognitive, adaptive, socio-communicative and autistic symptoms through the administration of standardized tools. The main contribution of this case report is to provide a detailed developmental and behavioral characterization focused on ASD symptoms in a child with [c.812 G > A; p. (Gly271Asp)]mutation in the KCNQ2 gene.

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31. Sivaraman M, Virues-Ortega J, Maes-Dhaeyere L, Saelaert E, Roeyers H. Social referencing training in children with autism spectrum disorder: A randomized controlled study. Journal of applied behavior analysis. 2022.

Children with autism spectrum disorder (ASD) have been shown to exhibit fewer instances of social referencing compared to their typically developing peers. The current study evaluated the effectiveness of multiple-exemplar training, prompting, and social reinforcement to teach social referencing. We used a single-blind randomized control trial with a multiple-baseline design nested within the experimental group to evaluate treatment effects. Twenty-five children with ASD participated. Participants in the treatment group showed significantly higher social referencing scores. However, there were no statistically significant differences between the groups in the posttraining initiating and responding to joint attention scores. The clinical implications of our findings are discussed.

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32. Sivasangari K, Emmanuvel Rajan K. Prenatal exposure to valproic acid alters Reelin, NGF expressing neuron architecture and impairs social interaction in their autistic-like phenotype male offspring. Experimental brain research. 2022.

Maternal exposure to anti-epileptic drug Valproic acid (VPA) during pregnancy increases the risk for the development of autism spectrum disorders (ASD). In this study, we have examined whether prenatal exposure to VPA will alter expression of key genes, synaptic morphology of nerve growth factor (NGF) and Reelin expressing neurons in the cortex of male offspring. To characterize in animal models, rat fetuses were exposed to VPA on 12.5 gestational day. The offspring of the VPA-exposed individuals (42%) resembles ASD-related phenotype (facial malformation, crooked-like tail, flattened paw, toenails and in-turning-ankles). Furthermore, we have observed deficit in social interaction accompanied by deregulation in expression of genes such as Caspase-3, focal adhesion kinase (FAK), Reelin, glial fibrillary acidic protein (GFAP), proliferating cell nuclear antigen (PCNA) and NGF. Subsequently, immunohistochemistry analysis revealed that exposure to VPA alters the cytoarchitecture (area, diameter) and reduced the dendritic arborization of Reelin, NGF expressing neurons in cortex. The compromised neurodevelopment by altered expression of Caspase-3, FAK, Reelin, GFAP, PCNA and NGF may cause defects in neuronal architecture, synaptic formation, synaptic plasticity and neuronal communication which could be linked with observed ASD-like phenotype and deficit social interaction.

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33. Spackman E, Lerh JW, Rodgers J, Hollocks MJ, South M, McConachie H, Ozsivadjian A, Vaughan Van Hecke A, Libove R, Hardan AY, Leekam SR, Simonoff E, Frazier TW, Alvares GA, Schwartzman JM, Magiati I, Uljarević M. Understanding the heterogeneity of anxiety in autistic youth: A person-centered approach. Autism research : official journal of the International Society for Autism Research. 2022.

The present study aimed to examine anxiety profiles among children and adolescents on the autism spectrum. It further aimed to characterize the association between the identified anxiety profiles and key clinical and developmental variables. The Spence Children’s Anxiety Scale-Parent Version (SCAS-P) data from a large international pooled sample of 870 caregivers of autistic children and adolescents (M(age) = 11.6 years, SD(age) = 2.77; 107 females) was used. Latent profile analysis identified a three-anxiety profile solution exhibiting high entropy (0.80) and high latent profile probabilities, with good classification accuracy. Identified profiles fell along the severity spectrum and were named as the mild (n = 498), moderate (n = 272) and severe (n = 100) anxiety profiles. There were no statistically significant differences between the three anxiety profiles in terms of sex distribution. Participants in the mild profile were significantly younger than those in the severe profile, had significantly fewer social communication difficulties than youth in the moderate anxiety profile group and had significantly fewer restricted and repetitive behaviors and lower cognitive functioning scores compared to participants in moderate and severe anxiety profiles. This is the first study to move beyond identifying associations and group-level differences to exploring and identifying characteristics of anxiety-based subgroups at an individual level that differ on key clinical and developmental variables. The subgroups identified in this study are a preliminary, yet important, first step towards informing future assessment and individualized interventions aiming to support young people on the autism spectrum to reduce and manage anxiety. LAY SUMMARY: This study tried to understand if there are subgroups of autistic young people who may have similar anxiety profiles. We found that we could meaningfully group young people into three groups based on how severe the anxiety symptoms their caregivers reported were: a group with low levels of anxiety, those with moderate anxiety, and those with more severe anxiety. We also found that the young people in the mild group were younger, had fewer autism traits and lower levels of intellectual functioning than young people in the other two groups.

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34. Sun X, Cheng L, Sun Y. Autism-associated protein POGZ controls ESCs and ESC neural induction by association with esBAF. Molecular autism. 2022; 13(1): 24.

BACKGROUND: The POGZ gene has been found frequently mutated in neurodevelopmental disorders (NDDs), particularly autism spectrum disorder (ASD) and intellectual disability (ID). However, little is known about its roles in embryonic stem cells (ESCs), neural development and diseases. METHODS: We generated Pogz-/- ESCs and directed ESC differentiation toward a neural fate. We performed biochemistry, ChIP-seq, ATAC-seq, and bioinformatics analyses to understand the role of POGZ. RESULTS: We show that POGZ is required for the maintenance of ESC identity and the up-regulation of neural genes during ESC differentiation toward a neural fate. Genome-wide binding analysis shows that POGZ is primarily localized to gene promoter and enhancer regions. POGZ functions as both a transcriptional activator and repressor, and its loss leads to deregulation of differentiation genes, including neural genes. POGZ physically associates with the SWI-SNF (esBAF) chromatin remodeler complex, and together they modulate enhancer activities via epigenetic modifications such as chromatin remodeling and histone modification. During ESC neural induction, POGZ-mediated recruitment of esBAF/BRG1 and H3K27ac are important for proper expression of neural progenitor genes. LIMITATIONS: The genotype and allele relevant to human neurodevelopmental disorders is heterozygous loss of function. This work is designed to study the effects of loss of POGZ function on ESCs and during ESC neural induction. Also, this work lacks of in vivo validation using animal models. CONCLUSIONS: The data suggest that POGZ is both a transcription factor and a genome regulator, and its loss leads to defects in neural induction and neurogenesis.

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35. Szlamka Z, Tekola B, Hoekstra R, Hanlon C. The role of advocacy and empowerment in shaping service development for families raising children with developmental disabilities. Health expectations : an international journal of public participation in health care and health policy. 2022.

INTRODUCTION: Empowerment of families raising children with developmental disabilities (DDs) is essential to achieving rights-based service development. METHODS: In this qualitative study, we investigated stakeholder perceptions on the role of advocacy and empowerment in developing caregiver interventions for families of children with DDs in a global context. Participants had experience with at least one intervention, namely the Caregiver Skills Training developed by the World Health Organization (WHO). Participants were clinicians, caregivers and researchers representing five continents, and representatives of WHO and Autism Speaks. Two focus group discussions and 25 individual interviews were conducted. Data were analysed thematically. RESULTS: Three themes were developed: empowerment as independence and as a right; the role and practices of advocacy; and using evidence to drive advocacy. Many professional participants defined empowerment within the realms of their expertize, focusing on caregivers’ individual skills and self-confidence. Caregivers expressed that this expert-oriented view fails to acknowledge their intuitive knowledge and the need for community-level empowerment. Participants discussed the challenges of advocacy in light of competing health priorities. The gap between the rights of caregivers and the availability of services, for example, evidence-based interventions, was highlighted as problematic. Scientific evidence was identified as a key for advocacy. CONCLUSION: Rights-orientated empowerment of caregivers and advocacy may make vital contributions to service development for children with DDs in contexts worldwide. PATIENT AND PUBLIC CONTRIBUTION: Research questions were revised based on views presented during focus group discussions. Participant feedback on preliminary themes informed the development of the interview guides.

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36. Tang S, Nie L, Liu X, Chen Z, Zhou Y, Pan Z, He L. Application of Quantitative Magnetic Resonance Imaging in the Diagnosis of Autism in Children. Frontiers in medicine. 2022; 9: 818404.

OBJECTIVE: To explore the application of quantitative magnetic resonance imaging in the diagnosis of autism in children. METHODS: Sixty autistic children aged 2-3 years and 60 age- and sex-matched healthy children participated in the study. All the children were scanned using head MRI conventional sequences, 3D-T1, diffusion kurtosis imaging (DKI), enhanced T2*- weighted magnetic resonance angiography (ESWAN) and 3D-pseudo continuous Arterial Spin-Labeled (3D-pcASL) sequences. The quantitative susceptibility mapping (QSM), cerebral blood flow (CBF), and brain microstructure of each brain area were compared between the groups, and correlations were analyzed. RESULTS: The iron content and cerebral blood flow in the frontal lobe, temporal lobe, hippocampus, caudate nucleus, substantia nigra, and red nucleus of the study group were lower than those in the corresponding brain areas of the control group (P < 0.05). The mean kurtosis (MK), radial kurtosis (RK), and axial kurtosis (AK) values of the frontal lobe, temporal lobe, putamen, hippocampus, caudate nucleus, substantia nigra, and red nucleus in the study group were lower than those of the corresponding brain areas in the control group (P < 0.05). The mean diffusivity (MD) and fractional anisotropy of kurtosis (FAK) values of the frontal lobe, temporal lobe and hippocampus in the control group were lower than those in the corresponding brain areas in the study group (P < 0.05). The values of CBF, QSM, and DKI in frontal lobe, temporal lobe and hippocampus could distinguish ASD children (AUC > 0.5, P < 0.05), among which multimodal technology (QSM, CBF, DKI) had the highest AUC (0.917) and DKI had the lowest AUC (0.642). CONCLUSION: Quantitative magnetic resonance imaging (including QSM, 3D-pcASL, and DKI) can detect abnormalities in the iron content, cerebral blood flow and brain microstructure in young autistic children, multimodal technology (QSM, CBF, DKI) could be considered as the first choice of imaging diagnostic technology. CLINICAL TRIAL REGISTRATION: [http://www.chictr.org.cn/searchprojen.aspx], identifier [ChiCTR2000029699].

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37. Tonge BJ, Brereton AV. World Autism Awareness Day: Reflections on the Indian context. The Indian journal of medical research. 2022.

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38. Tsujiguchi H, Hara A, Miyagi S, Pham KO, Suzuki K, Nguyen TTT, Ono Y, Kambayashi Y, Shimizu Y, Nakamura H, Suzuki F, Shibata A, Hayashi K, Tsuboi H, Nakamura H. Prospective relationship between autistic traits and nutrient intakes among Japanese children: Results of the Shika study. Autism : the international journal of research and practice. 2022: 13623613221097487.

It is known about food selectivity among children with autism spectrum disorder. However, the nutritional inadequacy among children with ASD is not clear. Especially, long-term evaluation has not been studied. We examined the prospective relationship between autistic traits in children and subsequent nutrient intake in later childhood. We utilized data obtained at two time points from a study conducted in Japan. Participants were 759 Japanese children aged between 7 and 12 years at baseline and between 10 and 15 years in the follow-up. The results showed relatively lower intakes of sodium, calcium, magnesium, iron, vitamin D, vitamin B2, and vitamin B12 among children with than without autistic traits. Relatively lower intake of minerals and vitamins in children with autistic traits is more evident in later childhood. The results suggest the importance of screening the nutrient intake of children with autistic traits across childhood.

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39. Waisman TC, Williams ZJ, Cage E, Santhanam SP, Magiati I, Dwyer P, Stockwell KM, Kofner B, Brown H, Davidson D, Herrell J, Shore SM, Caudel D, Gurbuz E, Gillespie-Lynch K. Learning from the experts: Evaluating a participatory autism and universal design training for university educators. Autism : the international journal of research and practice. 2022: 13623613221097207.

Autistic university students have many strengths. They also go through difficulties that professors may not understand. Professors may not understand what college life is like for autistic students. They might judge autistic students. A team of autistic and non-autistic researchers made a training to help professors understand autistic students better. This training also gave professors ideas to help them teach all of their students. Ninety-eight professors did an online survey before the autism training. They shared how they felt about autism and teaching. Before our training, professors who knew more about autism appreciated autism more. Professors who thought people should be equal and women also appreciated autism more. Then, 89 of the professors did our training and another survey after the training. This helped us see what they learned from the training. They did one more survey a month later. This helped us see what they remembered. Our training helped professors understand and value autism. It also helped them understand how they can teach all students better. The professors remembered a lot of what we taught them. This study shows that a training that autistic people helped make can help professors understand their autistic students better.

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40. Wang T, Zhao T, Liu L, Teng H, Fan T, Li Y, Wang Y, Li J, Xia K, Sun Z. Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder. EBioMedicine. 2022; 81: 104091.

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with high phenotypic and genetic heterogeneity. The common variants of specific oxytocin-related genes (OTRGs), particularly OXTR, are associated with the aetiology of ASD. The contribution of rare genetic variations in OTRGs to ASD aetiology remains unclear. METHODS: We catalogued publicly available de novo mutations (DNMs) [from 6,511 patients with ASD and 3,391 controls], rare inherited variants (RIVs) [from 1,786 patients with ASD and 1,786 controls], and both de novo copy number variations (dnCNVs) and inherited CNVs (ihCNVs) [from 15,581 patients with ASD and 6,017 controls] in 963 curated OTRGs to explore their contribution to ASD pathology, respectively. Finally, a combined model was designed to prioritise the contribution of each gene to ASD aetiology by integrating DNMs and CNVs. FINDINGS: The rare genetic variations of OTRGs were significantly associated with ASD aetiology, in the order of dnCNVs > ihCNVs > DNMs. Furthermore, 172 OTRGs and their connected 286 ASD core genes were prioritised to positively contribute to ASD aetiology, including top-ranked MAPK3. Probands carrying rare disruptive variations in these genes were estimated to account for 10∼11% of all ASD probands. INTERPRETATION: Our findings suggest that rare disruptive variations in 172 OTRGs and their connected 286 ASD core genes are associated with ASD aetiology and may be potential biomarkers predicting the effects of oxytocin treatment. FUNDING: Guangdong Key Project, National Natural Science Foundation of China, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province.

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41. Warrier V, Zhang X, Reed P, Havdahl A, Moore TM, Cliquet F, Leblond CS, Rolland T, Rosengren A, Rowitch DH, Hurles ME, Geschwind DH, Børglum AD, Robinson EB, Grove J, Martin HC, Bourgeron T, Baron-Cohen S. Genetic correlates of phenotypic heterogeneity in autism. Nature genetics. 2022.

The substantial phenotypic heterogeneity in autism limits our understanding of its genetic etiology. To address this gap, here we investigated genetic differences between autistic individuals (n(max) = 12,893) based on core and associated features of autism, co-occurring developmental disabilities and sex. We conducted a comprehensive factor analysis of core autism features in autistic individuals and identified six factors. Common genetic variants were associated with the core factors, but de novo variants were not. We found that higher autism polygenic scores (PGS) were associated with lower likelihood of co-occurring developmental disabilities in autistic individuals. Furthermore, in autistic individuals without co-occurring intellectual disability (ID), autism PGS are overinherited by autistic females compared to males. Finally, we observed higher SNP heritability for autistic males and for autistic individuals without ID. Deeper phenotypic characterization will be critical in determining how the complex underlying genetics shape cognition, behavior and co-occurring conditions in autism.

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42. Wright D, Kenny A, Eley S, McKechanie AG, Stanfield AC. Clinical and behavioural features of SYNGAP1-related intellectual disability: a parent and caregiver description. Journal of neurodevelopmental disorders. 2022; 14(1): 34.

BACKGROUND: SYNGAP1-related intellectual disability (ID) is a recently described neurodevelopmental disorder that is caused by pathogenic variation in the SYNGAP1 gene. To date, the behavioural characteristics of this disorder have mainly been highlighted via the prevalence of existing diagnoses in case series. We set out to detail the behavioural features of this disorder by undertaking interviews with those who have a child with SYNGAP1-related ID to allow them to describe their child’s behaviour. METHODS: We conducted 27 semi-structured interviews with parents and caregivers which covered basic information (e.g., age, gender), family history, perinatal history, past medical history, developmental history, epilepsy, behavioural history, and a general description of their child’s behaviour. RESULTS: Using a mixed quantitative and qualitative approach, the responses from the parents indicated that those with SYNGAP1-related ID showed high rates of autism spectrum disorder (52%), difficulties with fine and gross motor skills, delays in language development, and a high prevalence of epilepsy (70%). A qualitative analysis highlighted their general behaviour affected the themes of daily living skills, distress-related behaviours, emotional regulation, difficulties with change, a lack of danger awareness, and sensory differences. Sensory features described involved auditory, visual, tactile, gustatory, and proprioceptive themes. CONCLUSIONS: Our findings and behavioural descriptions provide important insights as well as implications for the diagnosis and care of those with SYNGAP1-related ID.

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43. Yip CCH, Chan KKS. Longitudinal impact of public stigma and courtesy stigma on parents of children with autism spectrum disorder: The moderating role of trait mindfulness. Research in developmental disabilities. 2022; 127: 104243.

BACKGROUND: Although the public and courtesy stigma of autism spectrum disorder (ASD) are prevalent, there are very few studies examining their adverse psychological effects on parents of children with ASD or exploring plausible factors that can alleviate these adverse effects. The present study addressed these literature gaps by investigating the longitudinal linkages of public and courtesy stigma to detrimental cognitive (i.e., self-stigma content and process) and affective (i.e., perceived stress and symptoms of depression and anxiety) consequences for parents of children with ASD and testing if these linkages would be moderated by trait mindfulness. METHODS: At two time points separated by 12 months, 372 Hong Kong parents of children with ASD provided questionnaire data on public and courtesy stigma, mindfulness, self-stigma content and process, perceived stress, and symptoms of depression and anxiety. RESULTS: Hierarchical regressions showed that public and courtesy stigma interacted significantly with mindfulness at baseline in predicting self-stigma content and process, perceived stress, and symptoms of depression and anxiety at follow-up. Moreover, simple slope analyses showed that the linkages of public and courtesy stigma to the five detrimental psychological consequences were weaker in parents with high mindfulness than in those with low mindfulness. CONCLUSIONS: Our findings highlight the longitudinal linkages of public and courtesy stigma to detrimental cognitive and affective consequences for parents of children with ASD, and reveal the plausible protective effects of mindfulness against such linkages. These findings suggest the potential utility of increasing mindfulness in parents of children with ASD in coping with community stigma and improving mental health.

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