1. 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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2. 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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3. 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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4. Becker M, Abaev K, Pinhasov A, Ornoy A. S-Adenosyl-Methionine alleviates sociability aversion and reduces changes in gene expression in a mouse model of social hierarchy. Behavioural brain research. 2022; 427: 113866.

Epigenetic changes are an important pathogenic mechanism in many diseases, including a variety of psychiatric disorders such as Autism Spectrum Disorder (ASD) and depression. Methyl donors such as S-Adenosyl-Methionine (SAMe) may cause epigenetic modifications, especially during embryonic development when the epigenetic memory is established. We treated pregnant submissive (Sub) mice exhibiting depressive-like phenotype with SAMe during days 12-14 of gestation aiming to alleviate the depressive – like symptoms in their offspring and normalize the expression in their prefrontal cortex of several genes possibly involved in depression. We also aimed to define possible gender differences of the effects of SAMe on the measured parameters. Treatment of the Dams with SAMe did not affect the early neurodevelopmental milestones in males or females. The results of the behavioral tests showed improvement in some behavioral parameters compared to saline treated Sub mice. Several of these improvements were gender related. Prenatal SAMe treatment mainly improved sociability, as observed in the three chambers social interaction test, in both genders. It also improved the increased locomotion (as observed by the open field test) in the female mice, but not in males. Prenatal SAMe increased the expression of Vegfa and Flt1 in males, but not in females. The expression of IgfII and SynIIb increased in males and decreased in females and the expression of serotonin receptor Htr2A did not change in both genders. In our mouse model of depression, prenatal treatment with SAMe significantly improved some parameters of depressive like behavior and normalized the expression of several genes related to depression. The gender differences observed in our studies may explain the sex related differences in the clinical presentation of depression and the different gender related response to treatment.

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5. 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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6. Chezan LC, Liu J, Drasgow E, Ding R, Magana A. The Quality of Life for Children with Autism Spectrum Disorder Scale: Factor Analysis, MIMIC Modeling, and Cut-Off Score Analysis. Journal of autism and developmental disorders. 2022.

Our purpose in this study was to further examine the psychometric properties of the Quality of Life for Children with Autism Spectrum Disorder (QOLASD-C) scale. We first investigated the factor structure and the internal consistency of the scale. The bifactor model showed good fit and strong reliability. Second, we used multiple-indicators multiple-causes (MIMIC) modeling to examine the associations between demographic variables and the QOLASD-C dimensions. Results showed differences on overall QOL based on age, race/ethnicity, and autism spectrum disorder severity, but no relationships with gender. All demographic variables were associated with one or all three subscales (i.e., interpersonal relationships, self-determination, emotional well-being) of the QOLASD-C. Third, an optimal cut-off score of 37 was identified. Implications for research and practice are discussed.

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7. 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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8. 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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9. Fell L, Goshe B, Traeger L, Perez G, Iannuzzi D, Park E, Kuhlthau K, Luberto C. Acceptability of A Virtual Mind-Body Group Intervention for Teen Siblings of Children with Autism Spectrum Disorder. Journal of autism and developmental disorders. 2022.

Teenage siblings of children with autism spectrum disorder (ASD) are at risk of worse mental health outcomes than their peers, yet there have been few interventions focused on improving their psychosocial wellbeing. This study explored the acceptability of an 8-session virtual group mind-body resiliency intervention for teen siblings of children with ASD. We used mixed methods to assess quantitative and qualitative survey results. Participants reported that the intervention had the right amount of sessions (88%), structure (74%), and duration (89%). Most participants felt comfortable during sessions (74%), found it helpful to learn mind-body exercises (74%), and that the intervention helped in coping with stress (71%). Though participants were satisfied with the opportunity to meet peers, they desired more social connection.

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10. Frost KM, Pomales-Ramos A, Ingersoll B. Brief Report: Response to Joint Attention and Object Imitation as Predictors of Expressive and Receptive Language Growth Rate in Young Children on the Autism Spectrum. Journal of autism and developmental disorders. 2022.

Joint attention and imitation are thought to facilitate a developmental cascade of language and social communication skills. Delays in developing these skills may affect the quality of children’s social interactions and subsequent language development. We examined how responding to joint attention and object imitation skills predicted rate of expressive and receptive communication growth rate in a heterogeneous sample of autistic children. Children’s baseline skills in responding to joint attention uniquely predicted expressive, but not receptive, language growth rate over time, while object imitation did not significantly predict language growth rate over and above joint attention skills. Future research should examine the potential moderating roles of child age and developmental level in explaining associations between joint attention and object imitation and later language development.

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11. Georén L, Jansson-Fröjmark M, Nordenstam L, Andersson G, Olsson NC. Internet-delivered Cognitive Behavioral Therapy for insomnia in youth with autism spectrum disorder: A pilot study. Internet interventions. 2022; 29: 100548.

Adolescents with ASD often suffer from sleep disorders affecting their development and quality of life. Research concerning psychological treatment of insomnia in this population is scarce. The objective of this pilot study was to examine the feasibility of internet-delivered CBT for insomnia (iCBT-I) and the participants’ experiences after completing the treatment. Both quantitative and qualitative methods were used. Six adolescents with ASD and insomnia, aged 13 to 17, participated in the study. The results of the qualitative investigation showed general satisfaction with the iCBT-I. The participants experienced both better sleep and insights into their sleep patterns. Thematic analysis revealed five themes: experience of the structure of the treatment, treatment content, experienced outcomes, experienced difficulties, and suggested improvements. The results indicate the need for additional support for some participants and suggest distinct recommendations for further studies. The quantitative investigation showed large reductions in insomnia symptoms indicating the feasibility of the treatment in this population. The findings suggest promising results, but more studies are needed to define the efficacy of iCBT-I for adolescents with ASD.

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12. 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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13. Li Q, Zhang L, Shan H, Yu J, Dai Y, He H, Li WG, Langley C, Sahakian BJ, Yao Y, Luo Q, Li F. The immuno-behavioural covariation associated with the treatment response to bumetanide in young children with autism spectrum disorder. Translational psychiatry. 2022; 12(1): 228.

Bumetanide, a drug being studied in autism spectrum disorder (ASD) may act to restore gamma-aminobutyric acid (GABA) function, which may be modulated by the immune system. However, the interaction between bumetanide and the immune system remains unclear. Seventy-nine children with ASD were analysed from a longitudinal sample for a 3-month treatment of bumetanide. The covariation between symptom improvements and cytokine changes was calculated and validated by sparse canonical correlation analysis. Response patterns to bumetanide were revealed by clustering analysis. Five classifiers were used to test whether including the baseline information of cytokines could improve the prediction of the response patterns using an independent test sample. An immuno-behavioural covariation was identified between symptom improvements in the Childhood Autism Rating Scale (CARS) and the cytokine changes among interferon (IFN)-γ, monokine induced by gamma interferon and IFN-α2. Using this covariation, three groups with distinct response patterns to bumetanide were detected, including the best (21.5%, n = 17; Hedge’s g of improvement in CARS = 2.16), the least (22.8%, n = 18; g = 1.02) and the medium (55.7%, n = 44; g = 1.42) responding groups. Including the cytokine levels significantly improved the prediction of the best responding group before treatment (the best area under the curve, AUC = 0.832) compared with the model without the cytokine levels (95% confidence interval of the improvement in AUC was [0.287, 0.319]). Cytokine measurements can help in identifying possible responders to bumetanide in ASD children, suggesting that immune responses may interact with the mechanism of action of bumetanide to enhance the GABA function in ASD.

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14. Lubbers K, Stijl EM, Dierckx B, Hagenaar DA, Ten Hoopen LW, Legerstee JS, de Nijs PFA, Rietman AB, Greaves-Lord K, Hillegers MHJ, Dieleman GC, Mous SE. Autism Symptoms in Children and Young Adults With Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex, and Neurofibromatosis Type 1: A Cross-Syndrome Comparison. Frontiers in psychiatry. 2022; 13: 852208.

OBJECTIVE: The etiology of autism spectrum disorder (ASD) remains unclear, due to genetic heterogeneity and heterogeneity in symptoms across individuals. This study compares ASD symptomatology between monogenetic syndromes with a high ASD prevalence, in order to reveal syndrome specific vulnerabilities and to clarify how genetic variations affect ASD symptom presentation. METHODS: We assessed ASD symptom severity in children and young adults (aged 0-28 years) with Fragile X Syndrome (FXS, n = 60), Angelman Syndrome (AS, n = 91), Neurofibromatosis Type 1 (NF1, n = 279) and Tuberous Sclerosis Complex (TSC, n = 110), using the Autism Diagnostic Observation Schedule and Social Responsiveness Scale. Assessments were part of routine clinical care at the ENCORE expertise center in Rotterdam, the Netherlands. First, we compared the syndrome groups on the ASD classification prevalence and ASD severity scores. Then, we compared individuals in our syndrome groups with an ASD classification to a non-syndromic ASD group (nsASD, n = 335), on both ASD severity scores and ASD symptom profiles. Severity scores were compared using MANCOVAs with IQ and gender as covariates. RESULTS: Overall, ASD severity scores were highest for the FXS group and lowest for the NF1 group. Compared to nsASD, individuals with an ASD classification in our syndrome groups showed less problems on the instruments’ social domains. We found a relative strength in the AS group on the social cognition, communication and motivation domains and a relative challenge in creativity; a relative strength of the NF1 group on the restricted interests and repetitive behavior scale; and a relative challenge in the FXS and TSC groups on the restricted interests and repetitive behavior domain. CONCLUSION: The syndrome-specific strengths and challenges we found provide a frame of reference to evaluate an individual’s symptoms relative to the larger syndromic population and to guide treatment decisions. Our findings support the need for personalized care and a dimensional, symptom-based diagnostic approach, in contrast to a dichotomous ASD diagnosis used as a prerequisite for access to healthcare services. Similarities in ASD symptom profiles between AS and FXS, and between NF1 and TSC may reflect similarities in their neurobiology. Deep phenotyping studies are required to link neurobiological markers to ASD symptomatology.

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15. 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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16. 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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17. 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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18. Olivola M, Arienti V, Bassetti N, Civardi S, Brondino N. Use of intranasal esketamine in a girl with treatment-resistant depression and autism spectrum disorders: a case report. EXCLI journal. 2022; 21: 540-3.

Major depression is a common comorbidity in autism spectrum disorder (ASD), often difficult to identify and to treat. Autistic subjects are more at risk for suicidal thoughts and behaviors compared to typically developing peers. Unfortunately, ASD individuals are more frequently treatment-resistant and often show side-effects which reduce efficacy. Intranasal esketamine has been recently approved as an add-on medication for treatment-resistant depression (TRD), but it has never been used in ASD with comorbid major depression. Of note, a pilot study of intranasal ketamine has shown no effect on social withdrawal in ASD without depression. The present case report describes the first girl with ASD and comorbid TRD treated with intranasal esketamine.

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19. 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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20. Persson M, Reichenberg A, Andersson Franko M, Sandin S. Maternal type 1 diabetes, pre-term birth and risk of autism spectrum disorder-a prospective cohort study. International journal of epidemiology. 2022.

BACKGROUND: It has been suggested that maternal type 1 diabetes (T1D) increases the risk of autism spectrum disorder (ASD) in the offspring. However, it is unclear whether this risk is mediated by pre-term birth, affecting around one-third of pregnancies with T1D, and whether maternal levels of glycated haemoglobin (HbA1c) impact the risk. METHODS: A cohort of 1.4 million Swedish children born between 1998 and 2015, and their parents. Maternal T1D and HbA1c before or in early pregnancy, gestational and ASD diagnoses were obtained from Swedish national registers. Relative risk (RR) and 95% CIs of ASD were estimated by hazard ratios (HRs) from Cox regression or RR from log-binomial regression. RESULTS: Of 1 406 650 children, 8003 (0.6%) were born to mothers with T1D, 24 941 (1.8%) were diagnosed with ASD and 81 915 (5.8%) were born pre-term. The risk of ASD was increased in offspring of mothers with T1D was HR = 1.40 (1.21-1.61). The RR for each +5-mmol/mol excess HbA1c was estimated at HR = 1.03 (0.97-1.10). The T1D effect on ASD mediated through pre-term birth was estimated at RR = 1.06 (1.05 to 1.08), corresponding to 22% (16% to 41%) of the total effect. T1D in pregnancy was associated with increased ASD risk in the offspring. Twenty percent of the total effect was accounted for by pre-term birth. HbA1c was not associated with ASD risk, beyond the risk associated by the T1D diagnosis itself. CONCLUSION: Awareness of ASD in the offspring of mothers with T1D may be warranted, especially considering the additional effect of pre-term birth.

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21. 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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22. Tsang T, Naples AJ, Barney EC, Xie M, Bernier R, Dawson G, Dziura J, Faja S, Jeste SS, McPartland JC, Nelson CA, Murias M, Seow H, Sugar C, Webb SJ, Shic F, Johnson SP. Attention Allocation During Exploration of Visual Arrays in ASD: Results from the ABC-CT Feasibility Study. Journal of autism and developmental disorders. 2022.

Visual exploration paradigms involving object arrays have been used to examine salience of social stimuli such as faces in ASD. Recent work suggests performance on these paradigms may associate with clinical features of ASD. We evaluate metrics from a visual exploration paradigm in 4-to-11-year-old children with ASD (n = 23; 18 males) and typical development (TD; n = 23; 13 males). Presented with arrays containing faces and nonsocial stimuli, children with ASD looked less at (p = 0.002) and showed fewer fixations to (p = 0.022) faces than TD children, and spent less time looking at each object on average (p = 0.004). Attention to the screen and faces correlated positively with social and cognitive skills in the ASD group (ps < .05). This work furthers our understanding of objective measures of visual exploration in ASD and its potential for quantifying features of ASD.

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23. 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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24. 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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25. 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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26. 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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27. Yarımkaya E, Esentürk OK, İlhan EL, Kurtipek S, Işım AT. Zoom-delivered Physical Activities Can Increase Perceived Physical Activity Level in Children with Autism Spectrum Disorder: a Pilot Study. Journal of developmental and physical disabilities. 2022: 1-19.

Although the benefits of regular physical activity are clearly expressed, children with Autism Spectrum Disorder (ASD) are less physically active than their typically developing peers. Recent empirical studies have revealed that the level of physical activity of children with ASD has further decreased during the novel coronavirus (COVID-19) pandemic, which has adversely affected the whole world. The aim of this study was to evaluate the potential efficacy of a Zoom-delivered physical activities for children with Autism Spectrum Disorder (ASD). Twenty-two families (parent and child dyads) participated in the study. Families were assigned randomly to an experimental group (n = 11) and a control group (n = 11). Families in the experimental group were engaged in 10 weeks of the Zoom-delivered physical activities. Data were collected using multiple data collection strategies (Personal Information Form- Leisure Time Exercise Questionnaire-Semi-Structured Interview). After the Zoom-delivered physical activities, a significant increase was observed in the physical activity level of children with ASD in the experimental group (F = 95.396, p = 0.000, Ƞ (2)  = 0.834). Parents reported that Zoom-delivered physical activities are a viable and useful intervention to increase the level of physical activity of children with ASD. The findings suggest that Zoom-delivered physical activities merit further investigation as an intervention to increase physical activity in children with ASD.

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