1. Birba A, López-Pigüi J, León Santana I, García AM. Impaired social concept processing in persons with autistic-like traits. Scientific reports. 2023; 13(1): 15709.

Situated models suggest that social concepts are grounded in interpersonal experience. However, few studies have tested this notion experimentally, and none has targeted individuals with reduced social interaction. Here, we assessed comprehension of text-level social and non-social concepts in persons with and without autistic-like traits. Participants read a social and a non-social text and answered questionnaires targeting social and non-social concepts, respectively. We compared behavioral outcomes, gauged their contribution to subject-level classification, and examined their association with validated measures of autism. Persons with autistic-like traits showed selective deficits in grasping text-level social concepts, even adjusting for intelligence, memory, and vocabulary. Also, social concept comprehension was the only variable that significantly classified between groups. Finally, social concept outcomes correlated negatively with measures of autism, including social interaction. Our results suggest that reduced interpersonal experience selectively compromises text-level social concept processing, offering empirical constraints for situated models of social semantics.

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2. Gui J, Wang L, Han Z, Ding R, Yang X, Yang J, Luo H, Huang D, Liu J, Jiang L. Association between the Healthy Eating Index-2015 and Developmental Disabilities in Children: A Cross-Sectional Analysis. Brain sciences. 2023; 13(9).

Few studies have examined the association between dietary quality and the risk of developmental disabilities (DDs). This study aimed to investigate the association between dietary quality and the risk of DDs in US children aged 5 to 15. We employed data from the National Health and Nutrition Examination Survey (NHANES) 2003-2018. Multivariable logistic regression was used to evaluate the association between HEI-2015 score, HEI component score, and the likelihood of DDs. Restricted cubic splines (RCS) were utilized to investigate nonlinear links between HEI-2015 score and the likelihood of DDs. Interaction analysis was utilized to explore differences between subgroups. HEI-2015 score was negatively linked with the risk of DDs after adjusting covariates [odds ratio (OR) = 0.99; 95% confidence interval (CI) = (0.98, 1.00)]. HEI-2015 score was separated by quartile into Q1, Q2, Q3, and Q4. Q1 represents the lowest HEI scores, while Q4 represents the highest HEI scores. Children in the fourth quartile of the HEI-2015 exhibited a decreased prevalence of DDs compared to those in the first quartile [(OR = 0.69; 95% CI = (0.53, 0.89)]. The association between HEI-2015 score and the risk of DDs was modified by race/ethnicity. The higher HEI-2015 score was associated with a lower risk of DDs, suggesting that better dietary quality may reduce the risk of DDs in children.

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3. Hambly C, Peters S, Singh M, Bollo-Kamara T, Athanasopoulos T. Selective and Systems-Level Face Processing Impairments in ASD. The Journal of neuroscience : the official journal of the Society for Neuroscience. 2023; 43(38): 6477-8.

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4. Hatfield DP, Must A, Kennedy W, Staiano AE, Slavet J, Sabelli RA, Curtin C, Bandini LG, Nauta P, Stuetzle C, Bowling AB. GamerFit-ASD beta test: adapting an evidence-based exergaming and telehealth coaching intervention for autistic youth. Frontiers in pediatrics. 2023; 11: 1198000.

BACKGROUND: Health disparities faced by autistic youth are exacerbated by inadequate physical activity (PA) and sleep, whereas healthy PA and sleep may improve mood and function. Adaptive Game Squad (AGS) is an evidence-based telehealth coaching and exergaming intervention to improve PA and sleep for adolescents with diverse neurodevelopmental and psychiatric conditions. This study aimed to adapt AGS for autistic youth ages 10-15 years; beta-test the modified intervention for feasibility, accessibility, and engagement; and further refine the intervention for a larger planned demonstration pilot. METHODS: Interdisciplinary experts adapted AGS to create GamerFit-ASD, a 12-week intervention that included a progressive exergame schedule, Fitbit step-tracking, weekly health coaching, and health tip/exercise videos. For beta testing, the intervention was shortened to a 4-week trial with 5 parent/child dyads. Children completed exit surveys and parents and children were interviewed about intervention feasibility, accessibility, and engagement. Exit survey data were summarized with descriptive statistics. Qualitative data were analyzed using a modified grounded-theory approach. RESULTS: All participants (n = 5; ages 10-14 years) attended all 4 planned coaching sessions and completed an average of 9 of 12 planned exergame challenges for a weekly average of 50 min. All participants reported enjoying coaching sessions, 4 of 5 reported enjoying exergames, and 3 of 5 reported enjoying on-demand exercise videos. In interviews, children generally reported finding participation feasible, exergaming challenges active and fun, and coaches friendly and helpful. Parents reported high feasibility of supporting their children’s involvement and valued child goal-setting and intervention flexibility; however, some found telehealth sessions overly scripted. Several adaptations to coaching scripts, coach training, and parent materials were made for the larger demonstration pilot, including changes to reduce scriptedness of coaching sessions, to provide parents with more information specific to autism, and to make video content more appropriate to children’s needs/preferences. DISCUSSION: A telehealth coaching and exergaming intervention appears feasible, accessible, and engaging for autistic youth aged 10-15. Future studies with larger, more diverse samples, longer study durations and/or follow-up periods, and more rigorous study designs are needed to advance understanding of the appropriateness and effectiveness of this type of intervention for this population.

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5. Hightshoe K, Gutiérrez-Raghunath S, Tomcho MM, Robinson Rosenberg C, Rosenberg SA, Dooling-Litfin JK, Cordova JM, Colborn K, DiGuiseppi C. Barriers to referral and evaluation and corresponding navigation services for toddlers screening positive for autism spectrum disorder. Families, systems & health : the journal of collaborative family healthcare. 2023; 41(3): 342-57.

INTRODUCTION: Children from disadvantaged populations receive referrals, diagnoses, and services for autism spectrum disorder (ASD) late or not at all. We describe barriers to referral for and receipt of evaluation for ASD among young children from disadvantaged families and activities by autism family navigators (AFNs) to address these barriers. METHOD: Trained AFNs offered navigation to families of children aged 16-30 months with positive ASD screens from community health center clinics in 2015-2018. AFNs interviewed families to identify perceived barriers to care and documented system barriers and navigation activities. We coded, categorized, and described barriers and AFN activities. Case studies illustrate barriers and navigation activities. RESULTS: Of 22 participating mothers, 82% were Latinx and 64% were native Spanish-speaking; 71% had household incomes <$30,000/year and 57% had no high school diploma. Half of the families experienced five or more barriers to ASD evaluation, most commonly pragmatic barriers. Information barriers/needs were 5 times more common among Spanish-speaking than English-speaking mothers. One-fifth of families identified negative experiences or expectations of care. System barriers included incomplete screening tests, inadequate referrals, and waiting lists. AFNs implemented navigation activities, most frequently categorized as care coordination (95%), education (68%), social/emotional support (36%), family advocacy (27%), and self-advocacy coaching (23%). AFNs also trained providers and staff to improve screening and referral implementation. DISCUSSION: In this largely Latinx sample, families experienced numerous barriers to obtaining ASD evaluations for their screen-positive children, likely reflecting the complexity of negotiating both healthcare and educational systems. Trained AFNs can assist parents to overcome barriers to timely diagnosis. (PsycInfo Database Record (c) 2023 APA, all rights reserved).

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6. Hutchinson J, Folawemi O, Bittla P, Kaur S, Sojitra V, Zahra A, Khan S. The Effects of Risperidone on Cognition in People With Autism Spectrum Disorder: A Systematic Review. Cureus. 2023; 15(9): e45524.

Autism spectrum disorder is made up of several disorders, which include autism, Asperger syndrome, and pervasive developmental disorder. Boys are four times more likely to be diagnosed than girls with autism spectrum disorder, and symptoms usually become apparent by the age of three. Autism spectrum disorders’ core characteristic features are abnormal interaction, impairment in communication, and stereotyped behaviors with restricted activities and interests. There are also non-core features associated with autism spectrum disorder, and these are aggression, self-injurious behavior, and tantrums. To date, there is no one drug approved to treat the core symptoms of autism spectrum disorder, but antipsychotic drugs such as risperidone have been shown to be effective at treating both core and non-core symptoms in controlled trials using multiple behavioral rating scales such as the Aberrant Behavioral Checklist subscale, the Clinical Global Impression Improvement Scale, the Ritvo-Freeman Real Life Scale, the Children’s Yale-Brown Obsessive Compulsive Scale, the Vineland Adaptive Behavior Scale, and the Social Withdrawal Subscale. The safety, efficacy, acceptability, and tolerability of risperidone were assessed in these studies, and weight gain was a common side effect observed, but the outcome was usually mild and self-limiting. The effect of risperidone on cognition was explored in this article. The studies selected for this article were of small sample size and short duration, which presented limitations for treatment with risperidone and an area that needs to be explored further for its contribution to clinical practice.

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7. Kanina A, Larsson H, Sjölander A, Butwicka A, Taylor MJ, Martini MI, Lichtenstein P, Lundberg FE, Onofrio BM, Rosenqvist MA. Correction: Association between cumulative psychosocial adversity in the family and ADHD and autism: a family-based cohort study. Translational psychiatry. 2023; 13(1): 299.

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8. Kripke-Ludwig R. « Profound Autism » Label Does Not Predict Strengths or Help Plan Supports. Public health reports (Washington, DC : 1974). 2023: 333549231199480.

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9. Marroquín JM. Clinician’s commentary to accompany barriers to referral and evaluation and corresponding navigation services for toddlers screening positive for autism spectrum disorder. Families, systems & health : the journal of collaborative family healthcare. 2023; 41(3): 389-90.

Comments on the original article by Hightshoe, et al., (see record 2024-10422-003) regarding barriers to referral and evaluation and corresponding navigation services for toddlers screening positive for autism spectrum disorder. This article described how a largely Latinx sample experienced unique barriers and how the (autism family navigators) AFNs were able to respond directly to the needs of families by remaining flexible. It appears that AFNs were engaging in cultural humility by considering each family’s culture and social factors, like when they advocated for adequate interpretation services for collaborative planning meetings. The current author would be interested to know more about the cultural training and skills used to facilitate engagement and build rapport. The case studies illustrate the necessity of having good working relationships in which families can indicate potential barriers, such as not being able to confirm an appointment with a facility or potential bias due to lack of insurance or immigration status, that need to be discussed to create an effective plan of intervention. These disclosures reveal areas of vulnerability that were only able to be discussed through the creation of safe space. Therefore, it would be essential to know how these working relationships were built and the geopolitical protections or risks (e.g., immigration healthcare policies that may impact mixed-status families) that could contribute to AFN and patient engagements. (PsycInfo Database Record (c) 2023 APA, all rights reserved).

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10. Masiran R, Ilias MNA. Child with global developmental delay presenting with autistic features. BMJ case reports. 2023; 16(9).

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11. Nicotera AG, Amore G, Saia MC, Vinci M, Musumeci A, Chiavetta V, Federico C, Spoto G, Saccone S, Di Rosa G, Calì F. Fibroblast Growth Factor Receptor 2 (FGFR2), a New Gene Involved in the Genesis of Autism Spectrum Disorder. Neuromolecular medicine. 2023.

Autism spectrum disorder (ASD) is a long-known complex neurodevelopmental disorder, and over the past decades, with the enhancement of the research genomic techniques, has been the object of intensive research activity, and many genes involved in the development and functioning of the central nervous system have been related to ASD genesis. Herein, we report a patient with severe ASD carrying a G > A de novo variant in the FGFR2 gene, determining a missense mutation. FGFR2 encodes for the ubiquitous fibroblast growth factor receptor (FGFR) type 2, a tyrosine kinase receptor implicated in several biological processes. The mutated version of this protein is known to be responsible for several variable overlapping syndromes. Even if there still is only sparse and anecdotal data, recent research highlighted a potential role of FGFR2 on neurodevelopment. Our findings provide new insights into the potential causative role of FGFR2 gene in complex neurodevelopmental disorders.

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12. Pantazakos T, Vanaken GJ. Addressing the autism mental health crisis: the potential of phenomenology in neurodiversity-affirming clinical practices. Frontiers in psychology. 2023; 14: 1225152.

The neurodiversity movement has introduced a new era for autism research. Yet, the neurodiversity paradigm and the autism clinic remain largely unconnected. With the present work, we aim to contribute to filling this lacuna by putting forward phenomenology as a foundation for developing neurodiversity-affirming clinical interventions for autism. In the first part of this paper, we highlight that autistic people face a severe mental health crisis. We argue that approaches focused on reducing autistic ‘symptoms’ are unlikely to solve the problem, as autistic mental health is positively correlated with autism acceptance and perceived quality of support provided, not necessarily with lack of ‘symptomatologic severity’. Therefore, the development and dissemination of neurodiversity-affirming clinical interventions is key for addressing the autism mental health crisis. However, therapists and researchers exploring such neurodiversity-affirming practices are faced with two significant challenges. First, they lack concrete methodological principles regarding the incorporation of neurodiversity into clinical work. Second, they need to find ways to acknowledge rightful calls to respect the ‘autistic self’ within the clinic, while also challenging certain beliefs and behaviors of autistic clients in a manner that is sine qua non for therapy, irrespective of neurotype. In the second part of the paper, we introduce phenomenological psychology as a potential resource for engaging with these challenges in neurodiversity-affirming approaches to psychotherapy. In this vein, we put forward specific directions for adapting cognitive behavioral and interpersonal psychotherapy for autism.

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13. Schwartz S, Wang L, Uribe S, Shinn-Cunningham BG, Tager-Flusberg H. Auditory evoked potentials in adolescents with autism: An investigation of brain development, intellectual impairment, and neural encoding. Autism research : official journal of the International Society for Autism Research. 2023.

Limited research has evaluated neural encoding of sounds from a developmental perspective in individuals with autism (ASD), especially among those with intellectual disability. We compared auditory evoked potentials (AEPs) in autistic adolescents with a wide range of intellectual abilities (n = 40, NVIQ 30-160) to both age-matched cognitively able neurotypical adolescent controls (NT-A, n = 37) and younger neurotypical children (NT-C, n = 27) to assess potential developmental delays. In addition to a classic measure of peak amplitude, we calculated a continuous measure of intra-class correlation (ICC) between each adolescent participant’s AEP and the age-normative, average AEP waveforms calculated from NT-C and NT-A to study differences in signal morphology. We found that peak amplitudes of neural responses were significantly smaller in autistic adolescents compared to NT-A. We also found that the AEP morphology of autistic adolescents looked more like NT-A peers than NT-C but was still significantly different from NT-A AEP waveforms. Results suggest that AEPs of autistic adolescents present differently from NTs, regardless of age, and differences cannot be accounted for by developmental delay. Nonverbal intelligence significantly predicted how closely each adolescent’s AEP resembled the age-normed waveform. These results support an evolving theory that the degree of disruption in early neural responses to low-level inputs is reflected in the severity of intellectual impairments in autism.

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14. Shan X, Uddin LQ, Ma R, Xu P, Xiao J, Li L, Huang X, Feng Y, He C, Chen H, Duan X. Disentangling the individual-shared and individual-specific subspace of altered brain functional connectivity in autism spectrum disorder. Biological psychiatry. 2023.

BACKGROUND: Despite considerable effort towards understanding the neural basis of autism spectrum disorder (ASD) using case-control analyses of resting-state functional magnetic resonance imaging data, findings are often not reproducible, largely due to biological and clinical heterogeneity among individuals with ASD. Thus, exploring the individual-shared and individual-specific altered functional connectivity (AFC) in ASD is important to understand this complex heterogeneous disorder. METHODS: We considered 254 ASD and 295 typically developing (TD) individuals from the Autism Brain Imaging Data Exchange to explore the individual-shared and individual-specific subspaces of AFC. First, we computed AFC matrices of ASD compared with TD. Then, common orthogonal basis extraction was used to project AFC of ASD onto two subspaces: an individual-shared subspace which represents altered connectivity patterns shared across ASD, and an individual-specific subspace which represents the remaining individual characteristics after eliminating the individual-shared altered connectivity patterns. RESULTS: Analysis yielded three common components spanning the individual-shared subspace. Common components were associated with differences of functional connectivity at the group level. AFC in the individual-specific subspace improved the prediction of clinical symptoms. The default mode network-related and cingulo-opercular network-related magnitude of AFC in the individual-specific subspace were significantly correlated with symptom severity in social-communication deficits and restricted, repetitive behaviors in ASD. CONCLUSIONS: Our study decomposed AFC of ASD into individual-shared and individual-specific subspaces, highlighting the importance of capturing and capitalizing on individual-specific brain connectivity features for dissecting heterogeneity. Our analysis framework provides a blueprint for parsing heterogeneity in other prevalent neurodevelopmental conditions.

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15. Spackman E, Smillie LD, Frazier TW, Hardan AY, Uljarević M. Characterizing subdomains of insistence on sameness in autistic youth. Autism research : official journal of the International Society for Autism Research. 2023.

Insistence on sameness (IS) encompasses a range of behavioral patterns, including resistance to change, routines, and ritualized behaviors, that can be present across social and non-social contexts. Given the breadth of behaviors encompassed by IS, it is important to determine whether this domain is best conceptualized and measured as uni- or a multi-dimensional construct. Therefore, the current study aimed to characterize the structure of IS and explore potentially distinct of patterns of associations between identified IS factors and relevant correlates, including age, sex, IQ, anxiety, social abilities, emotional and behavioral dysregulation, and sensory hypersensitivity. Exploratory graph analysis was conducted using the dimensional assessment of restricted and repetitive behaviors to examine the structure of IS in a sample 1892 autistic youth (M(age)  = 10.82, SD(age)  = 4.14; range: 3-18 years; 420 females) recruited from the Simons Foundation Powering Autism Research for Knowledge cohort. Three distinct IS subdomains labeled as IS-Ritualistic/sameness, IS-Routines, and IS-Others (referring to IS behaviors during interactions with others) were identified. Generalized additive models demonstrated that each of the IS subdomains showed a unique pattern of association with key variables. More specifically, while sensory hypersensitivity was significantly associated with IS-Ritualistic/sameness and IS-Routines, it was not associated with IS-Others. Further, while emotional dysregulation was a unique predictor of IS-Ritualistic/sameness (but not IS-Routines or IS-Others), social interaction abilities were a unique predictor of IS-Routines (but not IS-Ritualistic/sameness or IS-Others). Current findings provide preliminary evidence that the IS may encompass several distinct subdomains.

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16. Tassone F, Protic D, Allen EG, Archibald AD, Baud A, Brown TW, Budimirovic DB, Cohen J, Dufour B, Eiges R, Elvassore N, Gabis LV, Grudzien SJ, Hall DA, Hessl D, Hogan A, Hunter JE, Jin P, Jiraanont P, Klusek J, Kooy RF, Kraan CM, Laterza C, Lee A, Lipworth K, Losh M, Loesch D, Lozano R, Mailick MR, Manolopoulos A, Martinez-Cerdeno V, McLennan Y, Miller RM, Montanaro FAM, Mosconi MW, Potter SN, Raspa M, Rivera SM, Shelly K, Todd PK, Tutak K, Wang JY, Wheeler A, Winarni TI, Zafarullah M, Hagerman RJ. Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation. Cells. 2023; 12(18).

The premutation of the fragile X messenger ribonucleoprotein 1 (FMR1) gene is characterized by an expansion of the CGG trinucleotide repeats (55 to 200 CGGs) in the 5′ untranslated region and increased levels of FMR1 mRNA. Molecular mechanisms leading to fragile X-premutation-associated conditions (FXPAC) include cotranscriptional R-loop formations, FMR1 mRNA toxicity through both RNA gelation into nuclear foci and sequestration of various CGG-repeat-binding proteins, and the repeat-associated non-AUG (RAN)-initiated translation of potentially toxic proteins. Such molecular mechanisms contribute to subsequent consequences, including mitochondrial dysfunction and neuronal death. Clinically, premutation carriers may exhibit a wide range of symptoms and phenotypes. Any of the problems associated with the premutation can appropriately be called FXPAC. Fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated primary ovarian insufficiency (FXPOI), and fragile X-associated neuropsychiatric disorders (FXAND) can fall under FXPAC. Understanding the molecular and clinical aspects of the premutation of the FMR1 gene is crucial for the accurate diagnosis, genetic counseling, and appropriate management of affected individuals and families. This paper summarizes all the known problems associated with the premutation and documents the presentations and discussions that occurred at the International Premutation Conference, which took place in New Zealand in 2023.

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17. Taylor SL, Downs SJ, Rudd JR, McGrane B, Melville CA, McGarty AM, Boddy LM, Foweather L. Associations between motor competence and physical activity levels of children with intellectual disabilities and/or autism spectrum disorder: Movement matters. Journal of intellectual disabilities : JOID. 2023: 17446295231203764.

Motor competence is important for lifelong physical activity (PA). The current study aimed to examine associations between PA and motor competence. In total, 43 children aged 7-12 years with intellectual disabilities and/or autism spectrum disorder completed anthropometric measures, the Bruininks-Oseretsky Test of Motor Proficiency-2, and wore a wrist accelerometer to capture total PA, moderate-to-vigorous PA (MVPA), average acceleration, and intensity gradient. No significant associations were found between PA outcomes and motor competence. Motor competence performance was commonly ‘below average’ or ‘average’. The weakest subtests were upper limb coordination and strength. The strongest subtest was running speed and agility. Total weekly MVPA was 336.1 ± 150.3 min, higher than UK recommendations of 120-180 per week for disabled children and young people. Larger scale studies are needed to better understand the relationship between PA and motor competence. Future research should also consider the influence of environmental factors on PA in this group.

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18. Tinelli M, Roddy A, Knapp M, Arango C, Mendez MA, Cusack J, Murphy D, Canitano R, Oakley B, Quoidbach V. Economic analysis of early intervention for autistic children: findings from four case studies in England, Ireland, Italy and Spain. European psychiatry : the journal of the Association of European Psychiatrists. 2023: 1-65.

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19. Wang H, Liu S, Xie L, Wang J. Gut microbiota signature in children with autism spectrum disorder who suffered from chronic gastrointestinal symptoms. BMC pediatrics. 2023; 23(1): 476.

BACKGROUND: Children diagnosed with autism spectrum disorder (ASD) frequently suffer from persistent gastrointestinal symptoms, such as constipation and diarrhea. Various studies have highlighted differences in gut microbiota composition between individuals with ASD and healthy controls of similar ages. However, it’s essential to recognize that these disparities may be influenced by cultural practices, dietary habits, and environmental factors. METHODS: In this study, we collected fecal samples from both children diagnosed with ASD (n = 42) and healthy individuals (n = 41) residing in the southeastern coastal region of China. Subsequently, 16 S rRNA gene sequencing and advanced bioinformatics analyses were conducted to investigate the distinctive features of gut microbial communities within each group. RESULTS: The ASD group consisted of 28 males and 14 females, with a median age of 5.8 years, while the control group included 25 males and 16 females, with a median age of 6.8 years. Among the 83 sequenced fecal samples, a total of 1031 operational taxonomic units (OTUs) were identified. These included 122 unique OTUs specific to the control group and 285 unique OTUs specific to the ASD group. Analyses of α-diversity and β-diversity unveiled significant differences in the abundance and composition of gut microbiota between the two groups. It was found that the dominant bacterial taxa in healthy individuals were UBA1819, Flavonifractor, and Bradyrhizobium. In contrast, the ASD group exhibited a prevalence of Streptococcus, Ruminococcus, and Ruminiclostridium. Further analysis using Kyoto Encyclopedia of Genes and Genomes (KEGG) and Clusters of Orthologous Groups (COG) showed significant differences in the metabolic functionalities of the gut microbiota between the two groups. Notably, the metabolic pathway related to alpha-linolenic acid (ALA) in the gut microbiota of the ASD group was notably diminished compared to the control group. Conversely, the ASD group demonstrated significantly elevated levels of metabolic pathways involving uncharacterized conserved proteins, aminoglycoside phosphotransferase, and inorganic pyrophosphatase compared to the control group. CONCLUSIONS: Overall, these results confirm that there are significant differences in the gut microbiota structure between children with ASD and healthy controls in the southeast coastal region of China. This underscores the critical significance of delving into clinical interventions capable of mitigating the gastrointestinal and psychological symptoms encountered by children with ASD. A particularly encouraging path for such interventions lies in the realm of fecal microbiota transplantation, a prospect that merits deeper inquiry.

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20. Ward JH, Weir E, Allison C, Baron-Cohen S. Increased rates of chronic physical health conditions across all organ systems in autistic adolescents and adults. Molecular autism. 2023; 14(1): 35.

BACKGROUND: The poorer physical health of autistic adults compared to non-autistic adults has been highlighted by several epidemiological studies. However, research has so far been limited to specific geographical areas and has primarily focused on young autistic individuals (aged 35 years and younger). Recent studies indicate a higher rate of mortality in autistic people, as well as poorer quality of self-reported healthcare interactions. This study aims to determine, first, whether autistic people experience greater levels of non-communicable health conditions and second, whether these are explained by differences in demographics (i.e. sex, country of residence, ethnicity, education level), alcohol use, smoking, body mass index (BMI), or family history of medical conditions. METHOD: We employed a cross-sectional, convenience-sampling study via an anonymous, online survey of autistic and non-autistic adults (n = 2305, mean age = 41.6, 65.9% female, 49% autistic). The survey asked participants to self-report information about their demographics, autism diagnosis, diet, exercise, sleep, sexual health, substance use, personal medical history, and family medical history (for all first-degree, biological relatives). Binomial logistic regression across four iterative models of increasing complexity was applied to assess rates of physical health conditions. The Benjamini-Hochberg correction was used to account for multiple testing, and only physical health conditions that achieved at least 1% endorsement within the overall sample (n > 22) were included in the analysis to reduce risk of Type I errors. We also used novel network analysis methods to test whether there are increased levels of multimorbidity between autistic and non-autistic people. RESULTS: There were significantly elevated rates of non-communicable conditions across all organ systems in autistic people, including gastrointestinal, neurological, endocrine, visual, ear/nose/throat, skin, liver and kidney, and haematological conditions. We confirmed previous findings by showing highly significant differences in rates of neurological and gastrointestinal symptoms (p < 0.0001). In addition, we established in the largest sample to date that Ehler-Danlos Syndrome (EDS) was more likely to occur among autistic females compared to non-autistic females. Finally, we found a higher prevalence of Coeliac's disease among autistic individuals compared to non-autistic individuals after controlling for sex, ethnicity, country of residence, alcohol use, smoking, and BMI, but these results became non-significant after accounting for family history. LIMITATIONS: Our study is biased towards females, white individuals, highly educated people, and UK residents, likely due to sampling biases. Our self-report study design may also exclude those who lack access to computers, or those with intellectual disability. Our network analysis is also limited in size. CONCLUSIONS: This study provides evidence of widespread, physical health comorbidity that spans nearly all major organ systems in autistic adults compared to non-autistic adults, using both binary logistic regression and network models. Healthcare professionals must be made aware of the range of co-occurring physical health conditions that may be more common among autistic people. However, our findings also point towards potential avenues requiring further exploration, such as the association of autism with both Coeliac's disease and EDS.

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21. Zand MS, Spallina S, Ross A, Zandi K, Pawlowski A, Seplaki CL, Herington J, Corbett AM, Kaukeinen K, Holden-Wiltse J, Freedman EG, Alcantara L, Li D, Cameron A, Beaumont N, Dozier A, Dewhurst S, Foxe JJ. Ventilation during COVID-19 in a school for students with intellectual and developmental disabilities (IDD). medRxiv : the preprint server for health sciences. 2023.

BACKGROUND: This study examined the correlation of classroom ventilation (air exchanges per hour (ACH)) and exposure to CO (2) ≥1,000 ppm with the incidence of SARS-CoV-2 over a 20-month period in a specialized school for students with intellectual and developmental disabilities (IDD). These students were at a higher risk of respiratory infection from SARS-CoV-2 due to challenges in tolerating mitigation measures (e.g. masking). One in-school measure proposed to help mitigate the risk of SARS-CoV-2 infection in schools is increased ventilation. METHODS: We established a community-engaged research partnership between the University of Rochester and the Mary Cariola Center school for students with IDD. Ambient CO (2) levels were measured in 100 school rooms, and air changes per hour (ACH) were calculated. The number of SARS-CoV-2 cases for each room was collected over 20 months. RESULTS: 97% of rooms had an estimated ACH ≤ 4.0, with 7% having CO (2) levels ≥ 2,000 ppm for up to 3 hours per school day. A statistically significant correlation was found between the time that a room had CO (2) levels ≥1,000 ppm and SARS-CoV-2 PCR tests normalized to room occupancy, accounting for 43% of the variance. No statistically significant correlation was found for room ACH and per-room SARS-CoV-2 cases. Rooms with ventilation systems using MERV-13 filters had lower SARS-CoV-2-positive PCR counts. These findings led to ongoing efforts to upgrade the ventilation systems in this community-engaged research project. CONCLUSIONS: There was a statistically significant correlation between the total time of room CO (2) concentrations ≥1,000 and SARS-CoV-2 cases in an IDD school. Merv-13 filters appear to decrease the incidence of SARS-CoV-2 infection. This research partnership identified areas for improving in-school ventilation.

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22. Zeng J, Tian Y, Chen L, Cai J, Wang X, Liao Y, Shen H, Li X. [Genetic analysis of a child with developmental disorder and epilepsy due to a homozygous variant of PIGW gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2023; 40(10): 1288-91.

OBJECTIVE: To explore the genetic basis for a child featuring global developmental disorder with epilepsy. METHODS: A child who had presented at Guangzhou Women and Children’s Medical Center in July 2022 was selected as the study subject. Clinical data was collected. Potential variant was detected by whole exome sequencing (WES). Candidate variant was validated by Sanger sequencing and bioinformatic analysis. RESULTS: The child, a three-year-old ethnic Zhuang Chinese girl, had presented with global developmental disorder and epilepsy, for which rehabilitation therapy was ineffective. Genetic testing revealed that she has harbored a homozygous c.821T>C (p.Leu274Pro) missense variant of the PIGW gene, for which both of her parents and sister were heterozygous carriers. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as variant of uncertain significance. CONCLUSION: The homozygous c.821T>C (p.Leu274Pro) variant of the PIGW gene probably underlay the onset of disease in this child. Above finding has enriched the mutational spectrum of the PIGW gene.

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