1. Almog N, Kassel O, Levy N, Gabai T. Mapping the Dilemmas Parents Face with Disclosing Autism Diagnosis to their Child. J Autism Dev Disord;2022 (Aug 11):1-16.

The diagnosis of autism is often delivered solely to the parents, a practice that forces them to confront the dilemma of whether, when and how they should disclose it to the child. The present study seeks to probe deeper into the phenomenon of diagnosis disclosure and lead to a clearer understanding of the dilemmas parents? face. This article presents an analysis of a focus group and an online survey conducted with parents. The analysis produced a model that maps parents’ dilemmas regarding diagnosis disclosure to their child. The dilemmas, found to be complex and interconnected, concern the invisible nature of autism, the word autism and stigma, time motif, child’s environment, the act of disclosure itself, and the child’s personal narrative.

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2. Biller MF, Yeager KA. Lexical Acquisition and Phonological Development in Minimally Verbal Children With Autism Spectrum Disorders. Lang Speech Hear Serv Sch;2022 (Aug 10):1-14.

PURPOSE: This study examines two components of lexical acquisition and phonological development that occur during the first 50-word stage of language development in neurotypical (NT) children. One component is how children learn words based on their existing speech sound inventories (i.e., in-phonology and out-of-phonology word learning). The other component is the relationship between the children’s number of words and the number of phonemes in their speech sound inventories. The goal of this study is to determine if the same two components occur in children with autism spectrum disorders (ASDs) who are older than their NT peers but are in the same stage of lexical development. METHOD: This study involved 20 minimally verbal children with ASDs, ages 28-72 months, who produced five to 50 spoken words. The children’s spoken words were obtained from the MacArthur-Bates Communicative Development Inventories. The speech sound inventories were obtained from the utterances produced during assessment/play sessions with the children. The children’s spoken words from the Communicative Development Inventories (CDI) were categorized as either in-phonology or out-of-phonology based on whether the words began with a phoneme in the child’s existing speech sound inventory. Additionally, the children’s number of spoken words on the CDI was compared to the number of phonemes in their speech sound inventories. RESULTS: The children in this study produced in-phonology words more often than out-of-phonology words (z = -3.922; p < .001). Moreover, there was a moderate positive correlation between the children's number of spoken words and the number of phonemes in their speech sound inventories (r = .534, p = .019). CONCLUSIONS: The relationship between lexical acquisition and phonological development appears to exist for the children in this study, who are in the first 50-word stage of development. Clinical implications for increasing the expressive language of children with ASDs were discussed.

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3. Boilson AM, Churchard A, Connolly M, Casey B, Sweeney MR. Screening for Autism Spectrum Condition Through Inner City Homeless Services in the Republic of Ireland. J Autism Dev Disord;2022 (Aug 10):1-12.

Homeless service users were screened for autism spectrum disorder through one of Ireland’s leading not for profit service providers. Keyworkers acted as proxy informants; their caseloads were screened using the DSM-5-Autistic Traits in the Homeless Interview (DATHI). Client current and historical health and behaviour data was collated. A representative sample of 106 eligible keyworkers caseloads were screened, identifying 3% « present » and 9% « possibly present » for autistic traits with the DATHI. These findings suggest a high estimate of autism prevalence and support emerging evidence that, people with autism are overrepresented in the homeless population, compared to housed populations. Autism may be a risk factor for entry into homelessness and a challenge to exiting homeless and engaging with relevant services.

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4. Buijsman R, Begeer S, Scheeren AM. ‘Autistic person’ or ‘person with autism’? Person-first language preference in Dutch adults with autism and parents. Autism;2022 (Aug 11):13623613221117914.

There are different words to describe people with an autism diagnosis. For instance, we can put the person before autism (e.g. ‘person with autism’), or we can put autism before the person (e.g. ‘autistic person’). Previous research showed that autistic adults in English-speaking countries generally liked it better when autism is placed before the person. Yet, people also greatly differ in the words they like and dislike. In this study, we examined word preference in Dutch autistic adults (n = 1026; 16-84 years; 57% women) and parents of autistic children (n = 286). Via an online questionnaire, we asked our participants to select one term for autistic people that they liked best. The results showed that most adults with autism (68.3%) and parents (82.5%) preferred to put the person before autism. Younger adults, with a higher intelligence, and with more autistic traits, were a bit more likely to put autism before the person. We conclude that there are large differences in the words that people prefer. Because we found different results in our Dutch participants compared to participants in English-speaking countries, we think that the Dutch language or culture may also play a role in word preference. For now, we advise autism researchers to use both person-first and autism-first language.

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5. Culnane E, Efron D, Williams K, Marraffa C, Antolovich G, Prakash C, Loftus H. Carer perspectives of a transition to adult care model for adolescents with an intellectual disability and/or autism spectrum disorder with mental health comorbidities. Child Care Health Dev;2022 (Aug 10)

BACKGROUND: Transition to adult care for adolescents with an intellectual disability and/or autism spectrum disorder with coexisting mental health disorders, often termed ‘dual disability’, is complex. It requires a family-centred approach, with collaboration among health, disability and social services and early planning. AIM: To describe carer perspectives of transition to adult care and the outcomes of a transition support intervention, Fearless, Tearless Transition, for adolescents with dual disabilities piloted at a tertiary children’s hospital. METHODS: Carers of adolescents with a dual disability were invited to complete a survey at the commencement of their participation in the Fearless, Tearless Transition model, and again at the conclusion of the project. Within this intervention, carers and adolescents were encouraged to attend dedicated transition clinics and participate in a shared care general practitioner (GP) and paediatrician process. RESULTS: One hundred and fifty-one carers of adolescents with dual disabilities were included in Fearless, Tearless Transition. Of this cohort, 138 adolescents and their carers received support in a dedicated transition clinic with 99 carers completing the initial survey at the commencement of the model. Eighty-two per cent of carers reported moderate to high levels of anxiety about transitioning from paediatric to adult care with 39% feeling ‘unprepared’ about transition. Eighty-one per cent reported having inadequate access to respite care with 47% reporting a lack of access to services in the community and 56% expressing dissatisfaction with their GPs. One hundred and two families participated in the shared care process with 80 GPs and 33 paediatricians. Twenty-two carers completed the second survey reporting a modest but significant improvement in preparedness for transition to adult care. CONCLUSION: This study highlights the potential to improve transition outcomes for adolescents with dual disabilities and their carers through early, centralized transition planning, consistent methods of assessing adolescent and carer needs and shared care.

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6. da Motta TP, Owens J, Abreu LG, Debossan SAT, Vargas-Ferreira F, Vettore MV. Malocclusion characteristics amongst individuals with autism spectrum disorder: a systematic review and meta-analysis. BMC Oral Health;2022 (Aug 10);22(1):341.

BACKGROUND: To estimate the prevalence of malocclusion in individuals with autism spectrum disorders (ASD) and to assess the relationship between ASD and malocclusion. METHODS: We searched electronic databases including PubMed, Scopus, Web of Science, Cochrane, Embase, SciELO LILACS, Proquest, OpenGrey and Google Scholar. There were no language or publication dates restrictions. Two researchers independently performed selection, data extraction and quality assessment. Quality assessment and risk of bias were evaluated through the Newcastle-Ottawa scale and ROBINS-E tool. Meta-analyses using random effect models were used to estimate pooled measures of prevalence of malocclusion characteristics in individuals with ASD and pooled odds ratio (OR) on the relationship between ASD and malocclusion characteristics. Subgroup meta-analyses were conducted according to children and adolescents, history of orthodontic treatment, and occurrence of other syndromes and medical conditions. RESULTS: Searching identified 5549 papers with 238 were selected for full assessment. Eighteen cross-sectional studies were included according to inclusion criteria. Of them, eleven studies were considered of moderate quality. A judgement of critical risk of bias occurred for thirteen studies. The most prevalent malocclusion characteristics in individuals with ASD were crowding (33%; 95% CI 22 to 44%) and increased maxillary overjet (39%; 95% CI 23 to 54%). Individuals with ASD had higher odds of Angle’s Class II (OR 1.92; 95% CI 1.36 to 2.72), Angle’s Class III (OR 2.33; 95% CI 1.29 to 4.23), open bite (OR 1.96; 95% CI 1.21 to 3.16), and increased maxillary overjet (OR 1.53; 95% CI 1.06 to 2.21) than individuals without ASD. CONCLUSIONS: Angle’s Class II, Angle’s Class III, anterior open bite and increased maxillary overjet were more prevalent in individuals with ASD than those without ASD. Further high-quality studies are needed.

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7. Diniz NLF, Parlato-Oliveira E, Pimenta PGA, Araújo LA, Valadares ER. Autism and Down syndrome: early identification and diagnosis. Arq Neuropsiquiatr;2022 (Jun);80(6):620-630.

The diagnosis of autism spectrum disorder (ASD) in Down syndrome (DS) is underestimated because it is necessary to understand which aspects of the behavioral phenotype are related to DS and which are related to ASD. Objective: To conduct a systematic review of the literature on early identification and diagnosis of ASD in patients with DS. Data source: The VHL, MEDLINE, Cochrane, CINAHL, Scopus, Web of Science and Embase databases were searched and data were evaluated using PRISMA. Data synthesis: Out of 1,729 articles evaluated, 15 were selected. Although well studied, identification of ASD in DS can be difficult because of the need to understand which aspects of the behavioral phenotype are related to Down syndrome and which to autism. In this review, the prevalence of ASD was found to range from 12% to 41%. Early identification of autism risk in individuals with Down syndrome is still poorly studied, even though there are screening instruments for infants. Several instruments for diagnosing autism in individuals with Down syndrome were found, but a developmental approach is fundamental for making a clear diagnosis. Conclusions: Screening procedures are important for detecting early signs of autism risk in the first year of life. Careful evaluation methods are needed to establish the diagnosis, which include choosing appropriate tools for evaluation of development and cognition, and analysis of qualitative aspects of social interaction, among others. It has been indicated in the literature that early detection and timely accurate diagnosis, in association with an intervention, may benefit development, quality of life and social inclusion.

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8. Fóthi Á, Pintér C, Pollner P, Lőrincz A. Peripheral gene interactions define interpretable clusters of core ASD genes in a network-based investigation of the omnigenic theory. NPJ Syst Biol Appl;2022 (Aug 10);8(1):28.

According to the recently proposed omnigenic theory, all expressed genes in a relevant tissue are contributing directly or indirectly to the manifestation of complex disorders such as autism. Thus, holistic approaches can be complementary in studying genetics of these complex disorders to focusing on a limited number of candidate genes. Gene interaction networks can be used for holistic studies of the omnigenic nature of autism. We used Louvain clustering on tissue-specific gene interaction networks and their subgraphs exclusively containing autism-related genes to study the effects of peripheral gene interactions. We observed that the autism gene clusters are significantly weaker connected to each other and the peripheral genes in non-neuronal tissues than in brain-related tissues. The biological functions of the brain clusters correlated well with previous findings on autism, such as synaptic signaling, regulation of DNA methylation, or regulation of lymphocyte activation, however, on the other tissues they did not enrich as significantly. Furthermore, ASD subjects with disruptive mutations in specific gene clusters show phenotypical differences compared to other disruptive variants carrying ASD individuals. Our results strengthen the omnigenic theory and can advance our understanding of the genetic background of autism.

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9. Healy S, Brewer B, Hoopes E, Paller A, Mayberry S, Maguire J, Daly J, Laxton P, Patterson F. Identifying the most proximal multi-level factors associated with meeting each of the 24-h movement behavior recommendations in a sample of autistic adults. Disabil Health J;2022 (Aug 11):101367.

BACKGROUND: Autistic adults have poorer 24-h movement behaviors, including lower levels of physical activity, more time spent being sedentary, and shorter sleep duration than neurotypical adults. Social ecological frameworks posit that 24-h movement behaviors are determined by multi-level domains; however, not known is which multi-level factors are most important to meeting each of the 24-h movement behavior guidelines among autistic adults. OBJECTIVE: This study examined the relative importance of a range of multi-level determinants on meeting guidelines for the 24-h movement behaviors of aerobic physical activity, sedentary behavior, and sleep. METHODS: We administered at cross-sectional electronic survey to a national self-selecting, convenience sample of autistic adults and caregivers of autistic adults residing in the USA. We used machine learning to examine the relative variable importance (VIMP) of 55 multi-level variables with meeting recommendations for physical activity, sedentary behavior, and sleep duration. VIMPs >0 indicate predictive variables/domains. RESULTS: A greater number of group activities attended in the last 3-months, and greater independence in completing activities of daily living were most important to meeting aerobic physical activity guidelines. Group activity participation and marital status were important to meeting sedentary behavior guidelines while having a fewer number of comorbidities was most important to achieving adequate sleep. CONCLUSIONS: These data support hypotheses about the role of family and social level interventions targeting movement behaviors in autistic adults.

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10. Ince R, Glasby J, Miller R, Glasby AM. ‘Why are we stuck in hospital?’ Understanding delayed hospital discharges for people with learning disabilities and/or autistic people in long-stay hospitals in the UK. Health Soc Care Community;2022 (Aug 11)

Despite longstanding efforts at de-institutionalisation, around 2000 people with learning disabilities and/or autistic people in England currently live in hospital settings, amidst reports of protracted stays, limited progress towards living more ordinary lives and scandals of abuse and poor care. Yet, there is relatively little research on why people with learning disabilities and/or autistic people are delayed in hospitals, and what exists has significant limitations. In particular, previous studies have rarely talked directly to people with learning disabilities and/or autistic people, their families and frontline staff about their experiences of living or working in such settings, the barriers to discharge and what would help more people to lead chosen lifestyles. This paper presents the findings of a structured literature review conducted between January and March 2021 on delayed discharges of people with learning disabilities in long-stay hospital settings. It investigated: the proportion of people with learning disabilities delayed in long-stay hospital settings, the suggested reasons for these delays and the proposed solutions. The literature reported delays for 11%-80% of inpatients in different settings. The reasons reported are related either to particular characteristics of the person (which we find problematic) or limitations of the system supporting them. However, delays were defined and reported inconsistently, reasons usually lacked depth and detail, and the majority of included studies did not engage directly with the people living in long-stay settings, their families or frontline staff. Without listening to these voices, genuine solutions will be difficult to find.

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11. Jones SC. Autistics working in academia: What are the barriers and facilitators?. Autism;2022 (Aug 11):13623613221118158.

Academia appears to provide an ideal career option for autistic people: the opportunity to lock ourselves away in an ivory tower and utilise our extensive knowledge of a very specific topic. We know autistic people are underrepresented in postsecondary education, and there is a growing body of research on how to make universities more inclusive. What is missing from the literature is the voices of autistic people who have survived the university experience and gone on to become university teachers and researchers. Increasing the visibility of autistics in academia, and exploring the barriers and facilitators they experience in an academic career, is important to raise the aspirations of future university students and graduates. This study included 37 autistic academics from various disciplines and countries, exploring their perceptions of the positive and negative aspects of being an autistic in academia.

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12. Kaiser FMP, Gruenbacher S, Oyaga MR, Nio E, Jaritz M, Sun Q, van der Zwaag W, Kreidl E, Zopf LM, Dalm V, Pel J, Gaiser C, van der Vliet R, Wahl L, Rietman A, Hill L, Leca I, Driessen G, Laffeber C, Brooks A, Katsikis PD, Lebbink JHG, Tachibana K, van der Burg M, De Zeeuw CI, Badura A, Busslinger M. Biallelic PAX5 mutations cause hypogammaglobulinemia, sensorimotor deficits, and autism spectrum disorder. J Exp Med;2022 (Sep 5);219(9)

The genetic causes of primary antibody deficiencies and autism spectrum disorder (ASD) are largely unknown. Here, we report a patient with hypogammaglobulinemia and ASD who carries biallelic mutations in the transcription factor PAX5. A patient-specific Pax5 mutant mouse revealed an early B cell developmental block and impaired immune responses as the cause of hypogammaglobulinemia. Pax5 mutant mice displayed behavioral deficits in all ASD domains. The patient and the mouse model showed aberrant cerebellar foliation and severely impaired sensorimotor learning. PAX5 deficiency also caused profound hypoplasia of the substantia nigra and ventral tegmental area due to loss of GABAergic neurons, thus affecting two midbrain hubs, controlling motor function and reward processing, respectively. Heterozygous Pax5 mutant mice exhibited similar anatomic and behavioral abnormalities. Lineage tracing identified Pax5 as a crucial regulator of cerebellar morphogenesis and midbrain GABAergic neurogenesis. These findings reveal new roles of Pax5 in brain development and unravel the underlying mechanism of a novel immunological and neurodevelopmental syndrome.

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13. Laubscher E, Barwise A, Light J. Effect of Video Augmentative and Alternative Communication Technology on Communication During Play With Peers for Children With Autism Spectrum Disorder. Lang Speech Hear Serv Sch;2022 (Aug 11):1-16.

PURPOSE: Children with autism spectrum disorder (ASD) are at risk for exclusion from play with their peers due to difficulty with communication skills. Video augmentative and alternative communication (AAC) technology has the potential to support communication within the context of play using videos with integrated visual scene displays. This study investigated the effect of a video AAC intervention on the number of turns in which children with ASD demonstrated symbolic communication during interactions with a peer without disabilities. Maintenance of skills, generalization to untrained play scenarios, and stakeholder perceptions of the video AAC technology were also investigated. METHOD: This study used a single-case, multiple-probe design across participant dyads. It included baseline, intervention, maintenance, and generalization phases. Six children with ASD and six peers participated in the study. RESULTS AND CONCLUSIONS: All six participants with ASD demonstrated an increase in the number of turns in which they demonstrated at least one symbolic communication act following intervention, although one participant demonstrated variability in baseline performance, making it difficult to draw conclusions. Results provide preliminary evidence that instruction with video AAC technology can support communication for children with ASD during play interactions with peers.

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14. Li S, Tang Z, Jin N, Yang Q, Liu G, Liu T, Hu J, Liu S, Wang P, Hao J, Zhang Z, Zhang X, Li J, Wang X, Li Z, Wang Y, Yang B, Ma L. Uncovering Brain Differences in Preschoolers and Young Adolescents with Autism Spectrum Disorder Using Deep Learning. Int J Neural Syst;2022 (Sep);32(9):2250044.

Identifying brain abnormalities in autism spectrum disorder (ASD) is critical for early diagnosis and intervention. To explore brain differences in ASD and typical development (TD) individuals by detecting structural features using T1-weighted magnetic resonance imaging (MRI), we developed a deep learning-based approach, three-dimensional (3D)-ResNet with inception (I-ResNet), to identify participants with ASD and TD and propose a gradient-based backtracking method to pinpoint image areas that I-ResNet uses more heavily for classification. The proposed method was implemented in a preschool dataset with 110 participants and a public autism brain imaging data exchange (ABIDE) dataset with 1099 participants. An extra epilepsy dataset with 200 participants with clear degeneration in the parahippocampal area was applied as a verification and an extension. Among the datasets, we detected nine brain areas that differed significantly between ASD and TD. From the ROC in PASD and ABIDE, the sensitivity was 0.88 and 0.86, specificity was 0.75 and 0.62, and area under the curve was 0.787 and 0.856. In a word, I-ResNet with gradient-based backtracking could identify brain differences between ASD and TD. This study provides an alternative computer-aided technique for helping physicians to diagnose and screen children with an potential risk of ASD with deep learning model.

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15. Liang SC, Sun CK, Fan HY, Chung W, Tzang RF, Hung KC, Chiu HJ, Cheng YS, Yeh PY. Therapeutic effects of antidepressants for global improvement and subdomain symptoms of autism spectrum disorder: a systematic review and meta-analysis. J Psychiatry Neurosci;2022 (Jul-Aug);47(4):E299-E310.

BACKGROUND: No established pharmacological treatment is available for the core symptoms of autism spectrum disorder (ASD). This study aimed at investigating the efficacy of antidepressants for the core and associated symptoms of ASD. METHODS: We searched PubMed, Embase, ClinicalKey, Cochrane CENTRAL, ScienceDirect, Web of Science and ClinicalTrials.gov using the keywords « ASD » and « antidepressants. » We searched from database inception to June 2021 for randomized controlled trials of antidepressant use in patients with ASD. We calculated pooled effect sizes based on a random-effects model. RESULTS: Analysis of 16 studies with 899 participants showed improvements in restricted and repetitive behaviours (effect size = 0.27) and global symptoms (effect size = 1.0) in patients with ASD taking antidepressants versus those taking placebos (p ≤ 0.01). We found no differences between the 2 groups (p ≥ 0.36) in terms of dropout rate (odds ratio [OR] = 1.17) or rate of study discontinuation because of adverse events (OR = 1.05). We also noted improvements in irritability and hyperactivity in the antidepressant group (Hedges g = 0.33 and 0.22, respectively, both p < 0.03). Subgroup analyses showed significant effects of medication type (i.e., clomipramine was better than SSRIs) and age (antidepressants were more effective in adults than in children or adolescents) on both restricted and repetitive behaviours and global improvement (p < 0.05). Meta-regression demonstrated that better therapeutic effects were associated with lower symptom severity and older age. LIMITATIONS: The small effect sizes and variations in treatment response that we found warrant further study. CONCLUSION: Our results supported the effectiveness of antidepressants for global symptoms and symptom subdomains of ASD, with tolerable adverse effects. Low symptom severity and adulthood were associated with better outcomes.

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16. Linden A, Best L, Elise F, Roberts D, Branagan A, Tay YBE, Crane L, Cusack J, Davidson B, Davidson I, Hearst C, Mandy W, Rai D, Smith E, Gurusamy K. Benefits and harms of interventions to improve anxiety, depression, and other mental health outcomes for autistic people: A systematic review and network meta-analysis of randomised controlled trials. Autism;2022 (Aug 11):13623613221117931.

Nearly three out of four autistic people experience mental health problems such as stress, anxiety or depression. The research already done does not guide us on how best to prevent or treat mental health problems for autistic people. Our aim was to look at the benefits and harms of different interventions on mental health outcomes in autistic people. We searched all the published randomised controlled trials (RCTs) about interventions for mental health conditions in autistic people until 17 October 2020. We also searched for RCTs that were not published in peer-reviewed journals. These were obtained from registers of clinical trials online. We then combined the information from all these trials using advanced statistical methods to analyse how good the interventions are. Seventy-one studies (3630 participants) provided information for this research. The studies reported how participants were responding to the intervention for only a short period of time. The trials did not report which interventions worked for people with intellectual disability. In people without intellectual disability, some forms of cognitive behavioural therapy and mindfulness therapy may be helpful. However, further research is necessary. Many trials used medications to target core features of autism rather than targeting mental health conditions, but these medications did not help autistic people. Until we have more evidence, treatment of mental health conditions in autistic people should follow the evidence available for non-autistic people. We plan to widely disseminate the findings to healthcare professionals through medical journals and conferences and contact other groups representing autistic people.

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17. Liu L, Lai Y, Zhan Z, Fu Q, Jiang Y. Identification of Ferroptosis-Related Molecular Clusters and Immune Characterization in Autism Spectrum Disorder. Front Genet;2022;13:911119.

Introduction: Autism spectrum disorder (ASD) is a neurodevelopmental disorder with clinical presentation and prognostic heterogeneity. Ferroptosis is a regulated non-apoptotic cell death program implicated in the occurrence and progression of various diseases. Therefore, we aimed to explore ferroptosis-related molecular subtypes in ASD and further illustrate the potential mechanism. Methods: A total of 201 normal samples and 293 ASD samples were obtained from the Gene Expression Omnibus (GEO) database. We used the unsupervised clustering analysis to identify the molecular subtypes based on ferroptosis-related genes (FRGs) and evaluate the immune characteristics between ferroptosis subtypes. Ferroptosis signatures were identified using the least absolute shrinkage and selection operator regression (LASSO) and recursive feature elimination for support vector machines (SVM-RFE) machine learning algorithms. The ferroptosis scores based on seven selected genes were constructed to evaluate the ferroptosis characteristics of ASD. Results: We identified 16 differentially expressed FRGs in ASD children compared with controls. Two distinct molecular clusters associated with ferroptosis were identified in ASD. Analysis of immune infiltration revealed immune heterogeneity between the two clusters. Cluster2, characterized by a higher immune score and a larger number of infiltrated immune cells, exhibited a stronger immune response and was markedly enriched in immune response-related signaling pathways. Additionally, the ferroptosis scores model was capable of predicting ASD subtypes and immunity. Higher levels of ferroptosis scores were associated with immune activation, as seen in Cluster2. Lower ferroptosis scores were accompanied by relative immune downregulation, as seen in Cluster1. Conclusion: Our study systematically elucidated the intricate correlation between ferroptosis and ASD and provided a promising ferroptosis score model to predict the molecular clusters and immune infiltration cell profiles of children with ASD.

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18. Maggio AG, Shu HT, Laufer BI, Bi C, Lai Y, LaSalle JM, Hu VW. Elevated exposures to persistent endocrine disrupting compounds impact the sperm methylome in regions associated with autism spectrum disorder. Front Genet;2022;13:929471.

Environmental exposures to endocrine disrupting compounds (EDCs) such as the organochlorines have been linked with various diseases including neurodevelopmental disorders. Autism spectrum disorder (ASD) is a highly complex neurodevelopmental disorder that is considered strongly genetic in origin due to its high heritability. However, the rapidly rising prevalence of ASD suggests that environmental factors may also influence risk for ASD. In the present study, whole genome bisulfite sequencing was used to identify genome-wide differentially methylated regions (DMRs) in a total of 52 sperm samples from a cohort of men from the Faroe Islands (Denmark) who were equally divided into high and low exposure groups based on their serum levels of the long-lived organochlorine 1,1-dichloro-2,2-bis(p-chlorophenyl)ethylene (DDE), a primary breakdown product of the now banned insecticide dichlorodiphenyltrichloroethane (DDT). Aside from being considered a genetic isolate, inhabitants of the Faroe Islands have a native diet that potentially exposes them to a wide range of seafood neurotoxicants in the form of persistent organic pollutants (POPs). The DMRs were mapped to the human genome using Bismark, a 3-letter aligner used for methyl-seq analyses. Gene ontology, functional, and pathway analyses of the DMR-associated genes showed significant enrichment for genes involved in neurological functions and neurodevelopmental processes frequently impacted by ASD. Notably, these genes also significantly overlap with autism risk genes as well as those previously identified in sperm from fathers of children with ASD in comparison to that of fathers of neurotypical children. These results collectively suggest a possible mechanism involving altered methylation of a significant number of neurologically relevant ASD risk genes for introducing epigenetic changes associated with environmental exposures into the sperm methylome. Such changes may provide the potential for transgenerational inheritance of ASD as well as other disorders.

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19. Milberger S, Marsack-Topolewski C, Janks E, Anderson N, Bray M, Samuel PS. Evaluating the Benefits of a Family Support Program on the Health and Well-Being of Aging Family Caregivers of Adults with Intellectual and Developmental Disabilities. J Gerontol Soc Work;2022 (Aug 11):1-20.

Providing care to a family member with intellectual and developmental disabilities (I/DD) takes a toll on the health of the caregiver and the family, especially as they age. Research shows that peer mediated family support programs can improve caregiver health and well-being. To date, most family support programs have focused on family caregivers of children and youth with I/DD. The purpose of this study was to examine the benefits of participating in the Michigan Older Caregivers of Emerging Adults with Autism and Neurodevelopmental Disabilities (MI-OCEAN) family support program grounded in the Family Quality of Life (FQOL) framework. Specifically, we examined the effect of participation on health care utilization, caregiver well-being, and perceptions of global FQOL for older caregivers of adults with I/DD. Quantitative analysis of data gathered from 82 caregivers (age 50 and older) indicated that study participation was associated with increased use of Medicaid and improved caregiver well-being (reduced burden, stress, depression; increased health satisfaction and FQOL). Future research is needed to examine the long-term impact of the family support programs in improving the health and well-being of older caregivers of adults with I/DD.

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20. Nakamura M, Nakagami A, Nakagaki K, Yasue M, Kawai N, Ichinohe N. Prenatal valproic acid-induced autism marmoset model exhibits higher salivary cortisol levels. Front Behav Neurosci;2022;16:943759.

Individuals with autism spectrum disorder (ASD) are exposed to a variety of stressors owing to their behavioral traits. Cortisol is a hormone typically associated with stress, and its concentration and response to stress are higher in individuals with ASD than in controls. The mechanisms underlying cortisol dysregulation in ASD have been explored in rodents. Although rodent models have successfully replicated the major symptoms of autism (i.e., impaired vocal communication, social interaction deficits, and restricted/repetitive patterns of behavior), evidence suggests that the hypothalamic-pituitary-adrenal (HPA) axis system differs between rodents and primates. We developed an ASD model in the common marmoset (Callithrix jacchus), a New World monkey, utilizing prenatal exposure to valproic acid (VPA). In this study, we collected the salivary cortisol levels in VPA-exposed and unexposed marmosets in the morning and afternoon. Our results revealed that both VPA-exposed and unexposed marmosets showed similar diurnal changes in cortisol levels, which were lower in the afternoon than in the morning. However, heightened cortisol levels were observed throughout the day in VPA-exposed marmosets. These results are consistent with those of ASD in humans. Our results suggest that VPA-exposed marmosets show similarities not only in their behavioral patterns and brain pathologies, which we have reported previously, but also in hormonal regulation, validating the usefulness of VPA-exposed marmosets also as a tool for ASD stress research.

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21. Ong JH, Liu F. Probabilistic Learning of Cue-Outcome Associations is not Influenced by Autistic Traits. J Autism Dev Disord;2022 (Aug 11):1-13.

According to Bayesian/predictive coding models of autism, autistic individuals may have difficulties learning probabilistic cue-outcome associations, but empirical evidence has been mixed. The target cues used in previous studies were often straightforward and might not reflect real-life learning of such associations which requires learners to infer which cue(s) among many to track. Across two experiments, we compared adult learners with varying levels of autistic traits on their ability to infer the correct cue to learn probabilistic cue-outcome associations when explicitly instructed to do so or when exposed implicitly. We found no evidence for the effect of autistic traits on probabilistic learning accuracy, contrary to the predictions of Bayesian/predictive coding models. Implications for the current Bayesian/predictive coding models are discussed.

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22. Sabag M, Geva R. Hyper and hypo attention networks activations affect social development in children with autism spectrum disorder. Front Hum Neurosci;2022;16:902041.

Children with autism spectrum disorder (ASD) experience a range of social and non-social attention deficits. To date, most studies assessed the neurological framework or discrete behavioral traits related to one attention network, leaving a gap in the understanding of the developmental cascade affecting the inter-relations among attention networks in ASD in a pervasive manner. We propose a theoretical framework that integrates the behavioral deficits and neurological manifestations through a cohesive developmental prism of attention networks’ activations while assessing their impact on social deficits in children with ASD. Insights arising from the model suggest hyper-and-hypoactivation of posterior attention networks leads to an altered prefrontal anterior attention network weight in ways that conjointly impact social performance in ASD. This perspective on how attention networks develop and interact in ASD may inform future research directions regarding ASD and attention development.

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23. Sanders BW, Bedrick S, Broder-Fingert S, Brown SA, Dolata JK, Fombonne E, Reeder JA, Rivas Vazquez LA, Fuchu P, Morales Y, Zuckerman KE. Mobile and online consumer tools to screen for autism do not promote equity. Autism;2022 (Aug 11):13623613221114280.

Many parents wonder if their child might have autism. Many parents use their smartphones to answer health questions. We asked, « How easy or hard is it for parents to use their smartphones to find ‘tools’ to test their child for signs of autism? » After doing pretend parent searches, we found that only one in 10 search results were tools to test children for autism. These tools were not designed for parents who have low income or other challenges such as low literacy skills, low English proficiency, or not being tech-savvy.

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24. Welch C, Senman L, Loftin R, Picciolini C, Robison J, Westphal A, Perry B, Nguyen J, Jachyra P, Stevenson S, Aggarwal J, Wijekoon S, Baron-Cohen S, Penner M. Understanding the Use of the Term « Weaponized Autism » in An Alt-Right Social Media Platform. J Autism Dev Disord;2022 (Aug 10)

BACKGROUND: The term « weaponized autism » is frequently used on extremist platforms. To better understand this, we conducted a discourse analysis of posts on Gab, an alt-right social media platform. METHODS: We analyzed 711 posts spanning 2018-2019 and filtered for variations on the term « weaponized autism ». RESULTS: This term is used mainly by non-autistic Gab users. It refers to exploitation of perceived talents and vulnerabilities of « Weaponized autists », described as all-powerful masters-of-technology who are devoid of social skills. CONCLUSIONS: The term « weaponized autism » is simultaneously glorified and derogatory. For some autistic people, the partial acceptance offered within this community may be preferable to lack of acceptance offered in society, which speaks to improving societal acceptance as a prevention effort.

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25. Zhang Z, Liu J, Jiang G, Yu H. Vitamin D receptor gene variants and serum vitamin D in childhood autism spectrum disorder. Mol Biol Rep;2022 (Aug 11)

OBJECTIVE: This study aimed to examine the correlation between polymorphisms in vitamin D receptor (VDR) gene and serum vitamin D, and to determine their role in predicting childhood Autism Spectrum Disorder (ASD). METHODS: Children with ASD and age- and gender- matched healthy controls were recruited from the Chinese Han population. Their serum 25(OH) vitamin D was measured using competitive chemiluminescent immunoassays. The TaqMan probe approach was applied to analyze the common VDR SNPs rs731236 (Taq1), rs11568820 (Cdx2), rs1544410 (BsmI), and rs228570 (FokI). Both linear and logistic regressions were applied in data analysis. RESULTS: A total of 269 children with ASD and 320 healthy controls were recruited. Children with ASD had significantly lower levels of serum vitamin D and a significantly higher rate of vitamin D deficiency (< 20 ng/ml) compared to healthy controls (67.7% vs 34.1%). All these examined VDR SNPs were not correlated with serum vitamin D concentrations or vitamin D deficiency. Logistic regression analysis revealed that rs731236 and serum vitamin D were associated with childhood ASD. The area under the receiver operating characteristic (ROC) curve was 0.7285 for serum vitamin D. Children with both T/C genotype of rs731236 and vitamin D deficiency had a higher risk of being diagnosed with ASD. CONCLUSION: All examined common VDR SNPs are not correlated with serum vitamin D concentrations or vitamin D deficiency. The combination of T/C phenotype of rs731236 and vitamin D deficiency are associated with a higher risk of childhood ASD. Vitamin D is a promising target in the prevention and treatment of this disease.

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