1. Abdullah A, Liu X, Murari K, Yan J, Cheng N. Alterations in auditory midbrain processing is observed in both female and male mouse model of Fragile X Syndrome. Neuroscience;2026 (Feb 16);595:81-92.

Auditory hypersensitivity is a common phenotype in Fragile X Syndrome. Electrophysiology studies at the inferior colliculus of male FMR1-knockout (KO) mice previously demonstrated increased neuronal firing, suggesting that the inferior colliculus is involved in auditory hypersensitivity. Here, we further explored whether the central nucleus of the inferior colliculus (ICc) is involved in auditory hypersensitivity in both female and male KO mice. Tone-evoked in-vivo electrophysiology recordings from ICc neurons of anesthetized (ketamine/xylazine) KO mice at both postnatal day 20 (P20) and 30 (P30) demonstrated increased spikes compared to age- and sex-matched wild-type (WT) mice. Within the KO group, increased spikes were observed in females compared with male mice. Both female and male KO mice also displayed decreased minimum threshold and enhanced response duration at both ages. Additionally, female P30 KO mice displayed weaker inverse relationship between response latency and spike number compared to their WT counterparts. Regarding developmental changes, spike number decreased with maturation in both female and male KO mice. Response duration reduced with age in both sexes of both genotypes, while minimum threshold decreased in the male mice. Finally, we observed an age-related strengthening of the inverse relationship between response latency and magnitude only in the WT mice. Our findings indicate that the ICc display auditory processing deficits particularly in the female KO mice and in young animals highlighting the importance of including female subjects in future studies, and studying early development, which could be an ideal stage for interventions.

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2. Afsharnejad B, Lee EAL, Hayden-Evans M, Fridell A, Coco C, Alach T, Johnson M, Bölte S, Girdler S. A double-masked randomised actively controlled trial of KONTAKT™ social skills toolbox for Australian autistic children. Autism;2026 (Feb 15):13623613251414902.

To explore the efficacy of KONTAKT™, a manualised social skills group programme, compared to an active control group, 84 autistic children aged 8-12 years were randomised to KONTAKT (n = 43) or ART-Legends, a group-based social art programme (n = 41). Both programmes ran for sixteen 75-min sessions. Primary (Goal Attainment Scaling) and Secondary outcomes (Social Skills Group Assessment, LERID Friendship Scale) were collected at baseline, post-completion, 3-month (primary endpoint) and 1-year follow-up. A weekly survey was also collected to capture children’s enjoyment, motivation and social interaction anxiety while attending their group. Linear mixed modelling indicating significant effects for both groups on the primary outcome GAS (p < 0.001) over time. No Time*Group interaction was observed for GAS or any of the secondary measures at the primary endpoint, except quality of friendship (effect size = 0.67, p = 0.01). The weekly survey indicated higher enjoyment levels from attending KONTAKT compared to ART-Legends. This study found that both social group programmes helped autistic children achieve their personal social goals, with no clear advantage for KONTAKT over ART-Legends. However, KONTAKT's specific elements were necessary for improving friendship quality. Future research can benefit from exploring and identifying the elements of a social programme supporting enjoyment and helping autistic children achieve their goals.Trial registration: (1) Australian New Zealand Clinical Trials Registry: ACTRN12619000994189, registered 12 July 2019, anzctr.org.au; (2) ClinicalTrials.gov: NCT04024111 registered 1 December 2019, https://clinicaltrials.govLay AbstractSocial skills group programmes such as KONTAKT™ are the most frequently used programmes for supporting the social needs of autistic children in navigating a non-autistic social world. The success of these programmes is largely measured by comparing participants attending a social skills group programme to others not receiving this support or attending another social skills group programme. Therefore, it is unclear whether mere exposure to a supportive social group based on interests is as beneficial as a social skills group programme in supporting the social needs of autistic children. To understand this effect, researchers compared KONTAKT to ART-Legends, a group-based social art programme. While participants in both programmes engaged in free social play, KONTAKT participants also had opportunities to practise their social skills in activities such as roleplays and discussions. Two to three health professionals delivered both programmes to groups of 4-8 autistic children aged 8-12 years. Both programmes were manualised and ran for sixteen 75-min sessions. Overall, 84 children attended the programmes, 43 in KONTAKT and 41 in ART-Legends. A researcher, unaware of the group each child attended, collected data before, then immediately, 3 months and 12 months after the programmes ended. The enjoyment and motivation of attending the groups and the children's anxiety when socialising while attending the groups were also collected. This study found that both groups made clear progress on their personal social goals and social skills over time. However, children in the KONTAKT group showed better results than those in the ART-Legends group when it came to making friends, enjoying the sessions and feeling less anxious in social situations. Overall, this research suggested that when autistic children take part in a structured social group programme led by trained professionals in a supportive setting, the programme can help them reach their personally meaningful social goals. However, if the aim is related to improving their friendships and having more successful socialisation skills, KONTAKT is superior. Future studies could look more closely at what parts of the programme are most helpful in improving friendship and socialisation skills.

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3. Bisgaard AM, Wong K, Højfeldt AK, Stahlhut M, Downs J. Longitudinal trajectory of gross motor skills in school-aged children with Rett syndrome. Front Neurol;2025;16:1702703.

BACKGROUND: In children with Rett syndrome, this study aimed to (1) describe gross motor skill trajectories; and (2) analyse the influences of genetic variant and comorbidities. METHODS: This was a prospective longitudinal study conducted at the Danish National Center for Rett Syndrome 2008 to 2022. The Rett Syndrome Gross Motor Scale (RSGMS) was administered, and clinical data collected at each visit. Mixed-effects linear regression models were used to analyze the effects of age, genetic variant and comorbidities on gross motor skills. Clinical records data were reviewed. RESULTS: Data for 33 children with a mean age of 7.3 years (SD 1.2) at first visit were followed for a mean duration of 6.8 years (SD 2.1). The mean RSGMS score was 24.0 (SD 13.2, total of 45) at baseline. Adjusting for age and genetic variant, all severity levels of epilepsy, autonomic breathing dysfunction and scoliosis, except for surgically corrected scoliosis, were associated with a 4-point decrease in RSGMS score every 5 years. Acute escalation of seizures, change in muscle tone, orthopedic surgeries and bone fracture could be associated capacity to maintain gross motor skills. CONCLUSION: We identified decline in gross motor skills during childhood. This novel natural history data can assist with interpretation of changes in gross motor skills following the administration of new therapeutics.

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4. Boven F. Coming out as an autistic researcher: academic writing and its breakdowns. Front Psychiatry;2026;17:1678024.

This descriptive article offers an inside perspective of the experience of writing a publishable paper by an autistic early-career researcher. From an external perspective, this experience might be described as involving hyperfocus, indecision about framing, and conflicting norms of academic writing. The article develops an inside perspective on such experiences. The author adopts a philosophical approach, using phenomenological reflection on breakdowns as a method to explicate what is implicitly given in experience. Reflection on three types of research breakdown in academic writing results in an inside description of the complexities of this particular experience by someone who is both autistic and an academic researcher.

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5. Cheng L, Zhang J, Mao H, Jia X, Zhan L, Liu C. Brain activation patterns of figurative language comprehension in individuals with autism spectrum disorder: an activation likelihood estimation meta-analysis. Front Neurosci;2026;20:1717020.

BACKGROUND: Individuals with Autism Spectrum Disorder (ASD) consistently exhibit difficulties in comprehending figurative language. While prior neuroimaging studies have identified discrepancies in brain activation between ASD individuals and neurotypical controls (NCs) during such tasks, the specific and consistent neural patterns underlying these deficits remain unclear. METHODS: We conducted an activation likelihood estimation (ALE) meta-analysis to identify consistent brain activation patterns associated with figurative language comprehension in ASD. A systematic literature search was performed across five databases (PubMed, Embase, Web of Science, CNKI, Wanfang) up to January 31, 2025. Six functional magnetic resonance imaging (fMRI) studies, comprising 95 individuals with ASD and 98 NCs, met the inclusion criteria. RESULTS: The analysis revealed that during figurative language comprehension, both ASD and NCs consistently activated a core network involving the bilateral superior temporal gyrus (STG), transverse temporal gyrus, and right insula. A conjunction analysis confirmed the stability of these shared regions. Crucially, the meta-analysis of group differences (NCs > ASD) identified a significant cluster of hypoactivation in the ASD group within the left STG and middle temporal gyrus (MTG). No significant hyperactivation was found in the ASD group compared to NCs. CONCLUSION: This meta-analysis demonstrates that while individuals with ASD recruit typical language networks during figurative language comprehension, they exhibit a consistent pattern of reduced neural recruitment in the left STG and MTG. This hypoactivation may reflect a dual deficit encompassing reduced efficiency in semantic access/integration and impaired socio-linguistic integration, providing a neurobiological substrate for the pragmatic language difficulties characteristic of ASD. SYSTEMATIC REVIEW REGISTRATION: https://www.crd.york.ac.uk/PROSPERO/view/CRD42023467185, CRD42023467185.

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6. Cook JL, Fraser DS, Hickman LJ, Brewer R, Huh D. The relationship between speed and curvature differs in autistic and non-autistic tracing movements. Sci Rep;2026 (Feb 15)

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7. Dong S, Wang L, Kato H, Hirofuji S, Zhou Z, Ito Y, Hirofuji Y, Sato H, Kato TA, Sakai Y, Ohga S, Fukumoto S, Masuda K. MECP2 Insufficiency Attenuates RUNX2-Dependent Osteoblast Differentiation via miR-126-3p/DKK1-Mediated Canonical Wnt Signaling Inhibition in Rett Syndrome. Faseb j;2026 (Feb 28);40(4):e71570.

Rett syndrome (RTT) is a rare neurodevelopmental disorder caused by loss-of-function mutations in the gene encoding methyl-CpG-binding protein 2 (MECP2) that is located on the X chromosome. Affected individuals also exhibit a variety of non-neurological symptoms such as kyphoscoliosis and osteoporosis. Thus, MECP2 may play a functional role in bone remodeling and osteoblast differentiation. This study aimed to clarify the molecular mechanisms underlying the deregulation of bone remodeling in RTT. Human deciduous tooth-derived mesenchymal stem cells that exhibit osteoblast plasticity were used as a cellular model of RTT. Using a small interfering RNA-mediated MECP2 (MECP2-siR) knockdown system, we quantitatively analyzed the RUNX2-dependent and canonical Wnt signaling pathways during osteoblast differentiation. Expression of active β-catenin, RUNX2, and their downstream targets (osteocalcin and alkaline phosphatase) and mineralization were decreased in MECP2-siR-treated osteoblasts compared to that in control osteoblasts. In contrast, the MECP2-siR-treated osteoblasts exhibited an increase in the endogenous Wnt antagonist DKK1. Notably, MECP2/DKK1 double-knockdown osteoblasts possessed greater β-catenin and RUNX2 levels than MECP2 single-knockdown osteoblasts. Furthermore, microRNA126-3p was upregulated in MECP2-siR-treated osteoblasts, and an antagomir of microRNA126-3p prevented DKK1 upregulation, thereby improving the levels of active β-catenin and other osteoblastic phenotypes. These results suggest that MECP2 insufficiency enhances DKK1 expression via the upregulation of microRNA126-3p, suppressing the canonical Wnt signaling and subsequent RUNX2-dependent osteoblast differentiation. The present study provides insights into the molecular mechanisms involved in impaired osteoblast differentiation that contribute to the development of osteoporosis in RTT.

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8. Erickson S. Opportunity awaits: Comprehensive medication management for adults with developmental disabilities living in the community. J Am Pharm Assoc (2003);2026 (Feb 13):103050.

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9. Feng A, Li L. Comment on ‘Home Polysomnography in Children With Autism Spectrum Disorder: A Prospective Observational Study’. J Sleep Res;2026 (Feb 15):e70316.

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10. Guha S, Elisha DH, Eshraghi RS, Mittal R, Deth RC, Eshraghi AA. Autism Spectrum Disorders and Purinergic Signaling: A Systematic Review of Emerging Insights from Preclinical Studies. J Mol Neurosci;2026 (Feb 16);76(1):31.

Autism Spectrum Disorders (ASD), are a group of complex neurodevelopmental conditions characterized by deficits in social communication and the presence of restricted, repetitive behaviors. ASD rates are rising alarmingly in the United States and the reason behind this is obscure. Increasing evidence suggests that purinergic signaling, a form of extracellular signaling mediated by purine nucleosides and nucleotides such as adenosine and adenosine triphosphate (ATP), plays a critical role in neurodevelopment and immune function. This systematic review summarizes preclinical studies focusing on the relationship between purinergic signaling pathways and ASD, focusing on molecular, cellular, and behavioral studies. A comprehensive literature search through 2024 was carried out in PubMed, Scopus, and Web of Science databases following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. A total of 23 preclinical studies met our inclusion criteria and were included in the final review. The findings suggest that aberrant purinergic receptor expression, dysregulated ATP/adenosine status and ectonucleotidase level largely contribute to behavioral and synaptic abnormalities, dysregulation in neurotransmission, neuroinflammation and perturbed glial communication in ASD animal models. These insights support the hypothesis that purinergic signaling dysfunction contributes to the etiology and pathophysiology of ASD and represents a promising therapeutic target.

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11. Gül H, Özel Y, Murat N, Gül A. YouTube as a source of autism treatment information: A quality and reliability assessment. Res Dev Disabil;2026 (Feb 16);170:105254.

YouTube is a major source of health information for families seeking guidance on autism spectrum disorder (ASD), yet the reliability and educational value of treatment-related content remain uncertain. This cross-sectional study evaluated the quality, reliability, and credibility of ASD treatment videos on YouTube, providing a snapshot of the platform as of July 2023. A structured search yielded 114 eligible English-language videos. Two trained evaluators independently assessed each video using validated instruments: the DISCERN questionnaire (DISCERN) and the Journal of the American Medical Association (JAMA) benchmark criteria for reliability, and the Global Quality Scale (GQS) for overall educational quality. Inter-rater reliability was acceptable to excellent across all tools (ICC = 0.516-0.801), permitting the use of combined scores. Overall, video quality was predominantly low to moderate. DISCERN scores indicated that only 14.0 % of videos were « Excellent, » while 66.7 % fell within the Poor-to-Fair range. Similarly, only 24.6 % of videos were rated High quality on the GQS. JAMA scores were the lowest overall, with 71.1 % of content failing to meet basic standards of authorship, attribution, disclosure, or currency. Professionally produced content-particularly academic and specialist videos-consistently outperformed family-, patient-, and other non-health-related sources across all measures. Video duration demonstrated positive associations with quality and reliability, whereas higher comment counts were negatively correlated with all scoring systems. Treatment category alone did not predict quality; instead, uploader identity and information structure were the primary determinants. These findings highlight significant variability and persistent gaps in the quality of ASD treatment information on YouTube. Increased clinician involvement, stronger visibility for evidence-based content, and targeted digital health literacy efforts are needed to support families in navigating online ASD resources.

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12. Kato S, Hanawa K. Lexicogrammatical profiling of ASD: cognitive-functional mapping and diagnostic implications. Front Hum Neurosci;2025;19:1704950.

INTRODUCTION: Previous corpus-based study first established an annotated dataset of autism spectrum disorder (ASD) discourse, and subsequent modeling of lexicogrammatical patterns distinguished ASD from non-ASD discourse with high performance (accuracy 80%, precision 82%, sensitivity 73%, specificity 87%). That line of research further identified 46 statistically significant discriminators, of which 20 were analyzed in detail. The present study examines 18 additional discriminators and situates them within cognitive-functional domains to clarify their diagnostic relevance. Findings refine the language-cognition interface in ASD and extend the utility of lexicogrammatical profiling for assessment. METHODS: The Tag Linear Model was employed to identify lexicogrammatical features that distinguish ASD and non-ASD discourse. Logistic regression with 10,000 bootstrap iterations was applied to establish statistical significance. Although DNN models yielded higher predictive accuracy, the linear model provided transparent identification of discriminators. RESULTS: Of the 135 items analyzed, 46 were confirmed as statistically significant discriminators (p < 0.05). Eighteen of these, not previously examined, were analyzed in the present study. The discriminators were mapped onto 12 cognitive-functional domains, including working memory, executive functioning, joint attention, predictive processing, and weak central coherence. The results reveal distinctive patterns across multiple domains, including reduced use of benefactive auxiliaries, relational attributive clauses, obligation modality, evaluative and gradational resources, and mimetic onomatopoeia, reflecting systematic constraints in abstraction, perspective-taking, and pragmatic orientation. DISCUSSION: These findings demonstrate that choice patterns of lexicogrammar in ASD reflect domain-specific cognitive constraints. Interpreting the 18 discriminators within 12 cognitive-functional domains provides a linguistically grounded perspective on the neurocognitive profile of ASD and offers implications for future diagnostic and intervention research.

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13. Lee IO, Wolstencroft J, Housby H, van den Bree MBM, Chawner S, Hall J, Owen MJ, Skuse DH. The influence of genetic factors on education health and care plan obtainment for pupils with intellectual developmental disabilities. Sci Rep;2026 (Feb 15)

The study aimed to investigate the hypothesis that the Education, Health and Care Plan (EHCP) obtainment for pupils with intellectual developmental disabilities (IDD) of genetic aetiology was influenced by genetic factors and their family’s socioeconomic status. We recruited 2738 participants with IDD of genetic aetiology aged between 6-28 years old (mean age 14 years, 56% male). The data used included genetic inheritance information, primary special educational needs type, the age when the EHCP was granted, parental education level, free school meal eligibility and a family index of multiple deprivation score. Only 78% of participants were eventually granted EHCPs. Those with an inherited variant waited significantly longer and were less likely to receive an EHCP than those with a de novo variant. They were significantly more likely to be living in more deprived areas, and their parents had attained lower levels of education compared with those whose IDD was caused by an equivalent de novo genetic anomaly. This unique cohort study demonstrated that the obtainment of an EHCP in families seeking additional educational support for children with IDD of genetic origin is inequitable and is influenced by social and genetic factors.

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14. Liu C, Zhang Z, Xi J. Predictors of MR Following ASD Closure. Thorac Cardiovasc Surg;2026 (Feb 16)

BACKGROUND: Mitral regurgitation (MR) associated with atrial septal defect (ASD) has been observed to improve following ASD closure; however, aggravation of preexisting MR can occur post-procedure, with the underlying mechanisms of these adverse outcomes remaining poorly understood. METHOD: This retrospective study evaluated 95 patients who underwent surgical secundum ASD closure, all of whom received preoperative and postoperative transthoracic echocardiography (TTE). Patient characteristics from preoperative TTE, as well as sex and age, were analyzed to identify predictors of MR. Follow-up TTE was conducted at 1 month, 3 months, 6 months, 1 year, and 2 years post-procedure, with all patients successfully completing the 2-year follow-up. RESULTS: The univariate logistic regression analysis indicated that age, gender, LA, RA-VD, RA-HD, RV, ASD diameter, AS diameter, PAP, and peak tricuspid regurgitation velocity may serve as predictors of MR worsening. Subsequent multiple logistic regression analysis revealed that LA size was an independent predictor of MR worsening and acted as a protective factor. Our research indicates a marked reduction in right cardiac system after ASD closure, with significant remodeling of the LA within the first 6 months. The relative size of the LV increased notably within 2 years. The postoperative changes in LA differed between the worsening MR group and the non-worsening MR group. CONCLUSION: In conclusion, ‘prophylactic’ mitral annuloplasty during ASD surgery may prove advantageous for patients with an enlarged LA, and the presence of additional risk factors associated with mitral annuloplasty heightens the recommendation for concurrent intervention.

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15. Malik ZLH, Raundale P. Predicting fine motor deficit in autism by measuring brain activities and characterizing motor impairments. Comput Biol Med;2026 (Feb 16);204:111470.

Motor impairments affect approximately 86.9% of children with Autism Spectrum Disorder (ASD), often persisting into adolescence and increasing the risk of Developmental Coordination Disorder (DCD). Despite their prevalence, only 31.6% of affected individuals receive physical therapy, underscoring a critical gap in early intervention. Traditional methods for diagnosing Fine Motor Deficits (FMD) are often time-consuming and costly, necessitating the adoption of data-driven approaches. This study introduces a machine learning framework for the rapid and reliable prediction of fine motor impairments in adolescents with ASD. By integrating EEG-based neurophysiological signals, behavioral assessments, and motor coordination tests, the study evaluates five classification models-Logistic Regression, Support Vector Machine, K-Nearest Neighbors, Random Forest, and Neural Network. Among these, Logistic Regression achieved the highest accuracy (95.84%), demonstrating strong predictive power for identifying fine motor deficits. The proposed framework enhances the efficiency of FMD screening and provides an interpretable model for potential clinical use in early ASD diagnosis.

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16. Mao H, Qian Y, Su Y, Liu X, Nie X, Cai Y. Co-exposure to lead and cadmium is associated with increased severity of social deficits in children with autism spectrum disorders. Front Nutr;2026;13:1678007.

OBJECTIVE: This case-control study aimed to compare micronutrient (vitamins and minerals) profiles between children with autism spectrum disorders (ASD) and age- and gender-matched typically developing (TD) controls. It further sought to explore the associations of these profiles with core symptom severity and neurodevelopmental outcomes in ASD. METHODS: We enrolled 50 children with ASD and 50 matched TD controls. Core ASD symptoms were assessed using the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) and Childhood Autism Rating Scale (CARS), while neurodevelopmental status was evaluated with the Gesell Developmental Scale (GDS). Serum vitamin and mineral levels were measured in all participants. Eating behaviors were assessed using the Preschooler’s Eating Behavior Questionnaire (PEBQ). RESULTS: Key findings included: (1) significantly more severe eating behavior disturbances in ASD children, characterized by increased food selectivity, reduced self-feeding ability, and maladaptive eating patterns; (2) markedly higher serum iron levels in the ASD group (p = 0.028); (3) elevated serum lead (Pb) and cadmium (Cd) levels were positively correlated with social communication impairments. Notably, a combined heavy metal exposure index (reflecting Pb-Cd co-exposure) remained significantly associated with these impairments after controlling for screen time; (4) higher serum levels of vitamins D and B12 were associated with better gross motor development, whereas increased copper (Cu) levels were inversely associated with motor function. Elevated calcium (Ca) levels were positively associated with adaptive behavior development. CONCLUSION: These results demonstrate that both nutritional imbalances and co-exposure to heavy metals such as lead and cadmium are significantly associated with behavioral symptoms and neurodevelopmental outcomes in ASD. The findings underscore the importance of integrating routine nutritional surveillance and assessment of environmental heavy metal exposure to guide personalized interventions in this population. These cross-sectional associations warrant further investigation in larger, longitudinal studies that incorporate detailed dietary and environmental assessments to explore potential causal mechanisms.

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17. Osborne K, Liew Z, Cui X, Walker DI, Jones DP, Lin Y, O’Sharkey K, Heck JE, Paul KC, Ritz B. Prenatal exposure to per- and polyfluoroalkyl substances and risk of autism spectrum disorder in the California Central Valley, 2004-2010. Environ Epidemiol;2026 (Apr);10(2):e464.

BACKGROUND: There is mixed evidence regarding the association between per- and polyfluoroalkyl substances (PFAS) and autism spectrum disorder (ASD). METHODS: We matched 294 ASD cases to 286 controls by sex, birth year, and exposure to selected pesticides and air pollution. All participants were born in the California Central Valley from 2004 to 2010. Using high-resolution metabolomic profiling, three PFAS were measured in >60% of maternal serum samples: perfluorooctanoic acid (PFOA), perfluorohexanesulfonic acid, and perfluorooctane sulfonate (PFOS). Adjusted odds ratios (aORs) and 95% confidence intervals (CIs) were estimated using logistic regression to examine relationships between PFAS and ASD. Nonlinear associations were examined using restricted cubic spline regression, and a quantile-based g-computation approach was utilized to examine the association between a PFAS mixture and ASD. RESULTS: We found an elevated aOR for ASD comparing the highest to the lowest PFOA exposure quartile (aOR = 1.71; 95% CI = 0.96, 3.06); this was not seen with perfluorohexanesulfonic acid or PFOS. We saw a J-shaped exposure-outcome relationship for PFOA. No apparent associations were found for the PFAS mixture and ASD. Maternal education modified associations for PFOA and PFOS; among children of mothers with lower education levels, the highest PFOA quartile was strongly associated with ASD compared with the lowest quartile (aOR = 2.97; 95% CI = 1.43, 6.18). This association was not seen with higher education levels (aOR = 0.62; 95% CI = 0.24, 1.64). CONCLUSIONS: We found that prenatal exposure to PFOA was associated with ASD in children, particularly among mothers with lower education levels. Larger studies are warranted to replicate our findings.

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18. Ousta GS, Adamopoulos C, Piperi C. Neurodevelopmental Impact of Advanced Glycation End Products in Children with Autism Spectrum Disorder. ACS Chem Neurosci;2026 (Feb 16)

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with compromised prognosis and treatment. Current research has shown that along with genetic factors, maternal health, environmental exposures, and epigenetic modifiers play a critical pathogenic role. Emerging scientific evidence reveals the significant impact of increased advanced glycation end products (AGEs) in impairing pediatric brain development that may contribute to ASD by inducing neuroinflammation and oxidative stress through activation of the receptor for AGEs (RAGE) signaling in neuronal cells. Accumulation of AGEs has been shown to disrupt the blood-brain barrier (BBB) integrity, which is crucial for protecting the developing brain from harmful substances, as well as interfering with the vascular function and blood flow, affecting brain maturation, and inducing neuroendocrine dysregulation. In this review, we describe the impact of AGEs on pediatric brain development and synaptic plasticity, critical for learning and memory, as well as their input in exacerbating neuroinflammation through microglia activation, contributing to the development of autism-related neuropathology. We further discuss the diagnostic and patients’ stratification potential of specific AGE types as well as current interventions to reduce their exposure and tissue accumulation, mitigating their harmful effects to support a better neurodevelopmental outcome in children.

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19. Pin Arboledas G, Merino Andreu M, Rodríguez Hernández PJ, Furones García M, Monfort Belenguer L, de la Calle Cabrera T, Benito Ruiz G, Sans Capdevila Ó, Egea Santaolalla CJ. Consensus document on the treatment of insomnia in patients with autism spectrum disorder under 18 years of age. An Pediatr (Engl Ed);2026 (Feb 16):504064.

INTRODUCTION AND OBJECTIVES: The prevalence of sleep problems in people with ASD is high, affecting their quality of life and social skills. To date, there is no guideline for the treatment of insomnia in people with ASD at the national level in Spain or the European level. With the aim to guide the comprehensive management of insomnia, this consensus document was created under the leadership of the Spanish Association of Pediatrics (AEP) and the Spanish Sleep Society (SES). METHODS: Modified and adapted Delphi process. RESULTS AND CONCLUSIONS: The document describes diagnostic tools for use before treatment initiation and provides recommendations for comprehensive management. The treatment of insomnia begins with sleep hygiene measures and personalized cognitive-behavioral therapies. In maintenance insomnia, if these are not sufficient, pediatric prolonged-release melatonin (PedPRM) is recommended as the first-line drug, starting with a dose of 2mg/day and adjusting it to up to 10mg/day as needed. If the problems persist, alimemazine, risperidone or clonidine can be added, in that order, in a stepwise fashion. For early insomnia, immediate-release melatonin (IRM) is recommended, starting with a dose of 5mg/day and reducing it to up to 2mg/day if it is effective or increasing it to up to 7mg/day otherwise, or else PedPRM. The dosage should be reevaluated periodically in regular follow-up visits using sleep diaries.

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20. Rodgers DB, Loveall SJ. How special educators provide reading and writing instruction to secondary students with intellectual and developmental disabilities: A national survey of the United States of America. J Intellect Dev Disabil;2026 (Feb 16):1-14.

BACKGROUND: There is limited research regarding teachers’ instructional practices and beliefs around teaching reading and writing skills to secondary students with intellectual and developmental disabilities. METHOD: Three hundred forty-eight special educators in the United States responded to a survey about their instructional practices, self-efficacy, and beliefs regarding reading and writing instruction. RESULTS: Participants reported providing regular reading and/or writing instruction, enjoying and feeling confident in teaching these skills, and believing that reading and writing are important skills for their students. Participants’ self-efficacy and years of experience explained significant variability in their beliefs about whether their students could improve their literacy skills. CONCLUSION: Special educators overwhelmingly agree that reading and writing are important skills and generally indicated that they believe their students can make important gains. Teachers’ beliefs about the malleability of reading and writing skills were related to their sense of self-efficacy in teaching those skills.

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21. Saei S, Karamali Esmaili S, Hosseiny SF, Taheri K, Behdarvandi M. The Relationship between Sensory Processing Patterns and Self-Care Skills in Children with Autism Spectrum Disorder. Iran J Child Neurol;2026;20(1):55-61.

OBJECTIVES: Children with autism spectrum disorder (ASD) frequently experience sensory processing difficulties that interfere with daily functioning, particularly self-care, yet their specific relationships remain underexplored. Therefore, this study aimed to investigate the relationship between sensory processing patterns and self-care skills in children with ASD aged 3-6 years, examining sensory quadrants, sensory sections, and behavioral domains based on the Sensory Profile-second edition (SP-2). MATERIALS & METHODS: A cross-sectional design was employed, involving 93 children with ASD. Sensory processing patterns were assessed using the SP-2, while self-care skills were evaluated with the Pediatric Evaluation of Disability Inventory (PEDI). Researchers conducted multiple linear regression analyses to investigate how sensory processing patterns relate to self-care skills. RESULTS: The analysis revealed prevalent sensory processing difficulties in sensory sensitivity (M = 42.2, SD = 13.1), low registration (M = 46.0, SD = 14.4), touch (M = 23.0, SD = 9.2), movement (M = 18.1, SD = 7.4), and body position (M = 16.0, SD = 8.0). Regression analyses showed that overall sensory processing patterns significantly predicted self-care skills (R² = 0.151, p = 0.030). Among specific sensory patterns, the movement domain approached significance (β = -0.289, p = 0.063), suggesting its potential importance in predicting self-care abilities. CONCLUSION: Sensory processing difficulties may predict self-care skills in young children with ASD. Motor-related sensory challenges seem particularly significant, but it is crucial to approach these findings carefully due to the study’s cross-sectional design and dependence on parents’ reports. Future research should include longitudinal studies with objective measurements to provide more definitive insights.

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22. Shi Y, Chen S, Zhang X, Yang Y, Chen A, Sun Y, Chen X, Zhao S, Zhu T, Qiao W, Fan L, Wu L. Sphingosine-1-phosphate drives astrocyte pyroptosis via activation of NLRC4 inflammasome in autism spectrum disorder. Brain Behav Immun;2026 (Feb 13):106482.

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by deficits in social communication and cognitive functioning. Emerging evidence suggests that abnormal neuroinflammatory responses play a critical role in ASD pathogenesis. Our previous research studies have shown significantly elevated serum levels of Sphingosine-1-phosphate (S1P) in ASD patients, which correlate with clinical phenotypes. Given the key role of S1P in glial cells, we investigated its involvement in pyroptosis-related neuroinflammatory pathways. Mendelian randomization analysis revealed a genetic link between the pyroptosis-associated regulator CD122 and ASD risk. Consistent with this focus, blood samples from ASD patients showed elevated levels of key pyroptotic executioners (Caspase-1, GSDMD) and their downstream pro-inflammatory products (IL-1β, IL-18), confirming enhanced pyroptotic activity. In the BTBR mouse model, a validated ASD model, astrocytes exhibited increased expression of pyroptosis-related proteins and inflammatory cytokines, which were reversed following S1P depletion. Furthermore, hippocampal injection of S1P in wild-type mice induced astrocytic pyroptosis, confirming its direct pro-inflammatory effect. Mechanistic investigations identified NLRC4 as a key inflammasome component upregulated in astrocytes of BTBR mice. Suppression of Nlrc4 ameliorated cognitive deficits and social impairments in BTBR mice. Using astrocyte-specific Nlrc4 knockout models and in vitro assays, we demonstrated that S1P promotes astrocytic pyroptosis through NLRC4 activation, with ERK signaling identified as a critical downstream mediator in this process. These findings reveal a novel S1P-NLRC4-pyroptosis signaling axis in astrocytes that contributes to ASD-associated neuroinflammation, providing a potential molecular basis for targeted clinical intervention.

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23. Szakal C, Crespi B. Does the Extreme Male Brain Hypothesis of Autism Apply More to Females Than Males? A Systematic and Meta-Analytic Approach. Autism Res;2026 (Feb 16)

The extreme male brain (EMB) hypothesis posits that autism risk is mediated by high systemizing and low empathizing. This hypothesis has accrued extensive support, but the degree to which it applies in females compared to males, and the relative extent to which autism is associated with empathizing compared to systemizing, is unclear. Systematic review and meta-analyses of studies measuring the empathy quotient (EQ), the systemizing quotient (SQ), and the autism quotient (AQ), among individuals with autism and neurotypical individuals, were used to address these questions. Analyses of results from 34 studies indicated that: (1) Females show larger proportional differences in EQ and SQ between ASD and NT individuals than do males, (2) EQ shows larger proportional differences between autism spectrum (ASD) and neurotypical (NT) individuals than does SQ, (3) sex differences in EQ and SQ are highly attenuated among individuals with ASD, especially for SQ in females, (4) the regressions of EQ and SQ on AQ show significantly steeper slopes among individuals with ASD than in NT individuals, and (5) across studies, EQ and SQ are inversely associated among individuals with ASD, but not in NT individuals. These results provide new insights into the causes of ASD and its male bias.

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24. Takatani S, Nakaguchi H, Honda J, Soejima T, Kitao M, Lin Q, Nishimura N. Effects of Respite Care on the Quality of Life of Caregivers of Children With Autism Spectrum Disorder in Comparison With Parent Training: A Systematic Review and Meta-Analysis. Cureus;2026 (Jan);18(1):e101377.

Parents of children with autism spectrum disorder (ASD) experience substantial psychological, social, and physical burdens that negatively affect their quality of life (QoL). Although parent training (PT) is a well-recognized intervention for improving parental well-being, the effectiveness of respite care (RC) remains unclear. This systematic review and meta-analysis aimed to evaluate the effects of RC-containing programs in improving caregivers’ QoL compared to PT programs. Six electronic databases were searched until September 2025 for quantitative studies that examined RC-containing or PT programs targeting caregivers of children with ASD aged 0-18 years. Eligible designs included randomized, quasi-randomized, pre-post, and cross-sectional studies. Outcomes were QoL measured using validated scales. The risk of bias was assessed using RoBANS-2. Random-effects meta-analyses were conducted using standardized mean differences (SMD). Five studies met the inclusion criteria for RC-containing programs, and 10 met those for PT programs. RC-containing programs showed a significant moderate effect on caregiver QoL (SMD = 0.45, 95% CI: 0.32-0.58; I² = 1%) with low heterogeneity (I² = 1%, τ² = 0.0057, p = 0.40). PT programs also demonstrated a significant but smaller effect (SMD = 0.31, 95% CI: 0.14-0.47; I² = 42%) with high heterogeneity (I² = 42%, τ² < 0.0001, p = 0.08). Although all included studies in both RC-containing and PT programs showed a high risk of bias, the point estimate suggested a comparative improvement in QoL among caregivers who received RC-containing support. RC-containing programs appear beneficial for improving the QoL of caregivers of children with ASD, and their effects are comparable to those of PT programs. This highlights the importance of recognizing RC as an essential component of family support and of integrating flexible, needs-based RC into clinical practice.

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25. Thapa K, Khan H, Kanojia N, Kumar J, Singh TG, Grewal AK. Update on pharmacogenomic approaches in the treatment of autism spectrum disorders. Psychopharmacology (Berl);2026 (Feb 16)

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26. Tran A, Patel-Sanchez N. Pediatric intestinal pseudo-obstruction found in 3-year-old male with Rett-related mutation of methyl-CpG binding protein 2. JPGN Rep;2026 (Feb);7(1):44-46.

A 3-year-old male with chronic abdominal distention, constipation, and severe malnutrition is diagnosed with pediatric intestinal pseudo-obstruction (PIPO) after extensive evaluation that excluded mechanical, malabsorptive, metabolic, inflammatory, and infectious causes. Aside from speech delay, he has a normal neurologic exam. Whole exome sequencing reveals a pathogenic methyl-CpG binding protein 2 (MECP2) variant, suggesting atypical Rett syndrome. Management includes promotility agents and a gastrostomy tube with cyclic feedings of peptide-based formula, leading to resolution of symptoms. This case highlights the diagnostic complexity of PIPO and the need to consider genetic etiologies, including MECP2-related disorders, even in patients with mild neurologic findings. Early genetic testing and multidisciplinary care are essential for diagnosis and management in this atypical presentation of Rett syndrome with manifestation of PIPO.

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27. Uysal M, Aydin Ayva D, Ceylan MF, Tural Hesapcioglu S. Clozapine treatment in adolescents with schizophrenia and autism spectrum disorder: Comparative clinical profiles and treatment outcomes from a retrospective study. J Psychopharmacol;2026 (Feb 15):2698811251414347.

OBJECTIVE: Clozapine is a gold-standard antipsychotic for treatment-resistant schizophrenia, increasingly used off-label for severe autism spectrum disorder (ASD) with irritability or disruptive behaviors. This study evaluated clozapine’s efficacy and tolerability in children and adolescents with ASD or schizophrenia spectrum disorders (SSDs). METHODS: A retrospective review of 26 inpatients (ASD: n = 8; SSD: n = 18) treated with clozapine included demographics, dosing, and hospitalization data. Symptom severity was assessed with the Clinical Global Impression-Severity Scale (CGI-S), Scale for the Assessment of Negative Symptoms (SANSs), Scale for the Assessment of Positive Symptoms (SAPSs), and Aberrant Behavior Checklist (ABC). Side effects were evaluated with the Ugvalg for Kliniske Undersøgelser (UKU) Side Effect Rating Scale. Hematological parameters-white blood cells, neutrophils, lymphocytes, and neutrophil-to-lymphocyte ratio (NLR)-were compared pre-treatment and at 6 months. RESULTS: Of the 26 patients, 50% had early-onset schizophrenia, 30.8% had ASD, and 19.2% had schizoaffective disorder. Clozapine was initiated at a mean age of 15.8 years, with a mean dose of 284.6 mg/day. Both SSD (p < 0.001) and ASD (p = 0.01) groups showed significant CGI improvement. SANS and SAPS improved in SSD (p = 0.001, p < 0.001); ABC improved in ASD (p = 0.012). UKU scores decreased in SSD (p < 0.001) and trended downward in ASD (p = 0.38). Hypersalivation (61.5%), increased appetite (53.8%), and sedation (34.6%) were common; no discontinuations occurred. Neutrophils increased (p = 0.007), and lymphocytes decreased (p = 0.037), with significant NLR elevation in SSD (p = 0.006). CONCLUSION: Clozapine demonstrated strong efficacy and improved tolerability, reducing side effects compared to prior polypharmacy in refractory pediatric ASD and SSD.

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28. Wu L, Zhang X, Liu S, Gao X, Wang J. Effectiveness of music therapy for children with autism spectrum disorder: meta-analysis and potential biological mechanisms. Front Psychiatry;2025;16:1722874.

OBJECTIVES: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by deficits in social interaction, communication skills, and repetitive behaviors. However, no effective pharmacological treatments targeting core symptoms have yet been developed. As a non-pharmacological intervention, music therapy (MT) is increasingly being explored for its potential value in improving functional outcomes for children with autism. This study aims to examine the efficacy of MT for children with ASD through a meta-analysis. METHOD: We conducted a systematic review following the PRISMA guidelines. A comprehensive and systematic search of PubMed, Web of Science, and the Cochrane Library databases up to August 2025 was performed to identify studies on MT treatment for children with ASD. Continuous variables were reported as standardized mean differences (SMD) with 95% confidence intervals (CI). All analyses were conducted using Stata statistical software version 17.0. RESULTS: Our meta-analysis included 18 studies. Results showed that MT significantly reduced the total score on the Autism Behavior Checklist (ABC) (SMD = -0.76, 95% CI: -1.31 to -0.22, P = 0.01) and Childhood Autism Rating Scale (CARS) total scores (SMD = -0.43, 95% CI: -0.73 to -0.14, P < 0.01). Specifically, compared with the control group, MT significantly improved social skills (SMD = -0.26, 95% CI: -0.46 to -0.05, P = 0.01), behavioral abilities (SMD = -0.72, 95% CI: -1.06 to -0.39, P < 0.01), and sensory (SMD = -0.87, 95% CI: -1.68 to -0.07, P = 0.03), emotional (SMD = -1.31, 95% CI: -1.98 to -0.64, P < 0.01), and verbal functioning (SMD = -0.65, 95% CI: -0.19 to 1.12, P = 0.01). CONCLUSION: In summary, MT demonstrates efficacy in improving behavioral symptoms associated with autism spectrum disorders. However, caution should be exercised when interpreting results due to limited research literature in some analyses. Further studies are needed to validate its therapeutic effects. SYSTEMATIC REVIEW REGISTRATION: https://www.crd.york.ac.uk/prospero/, identifier CRD420251252228.

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29. Wu WT, John JR, Mendoza Diaz A, Eapen V. Occurrence of mental health challenges and their association with autistic traits, cognitive level and adaptive functioning in autistic preschool children. BJPsych Open;2026 (Feb 16);12(2):e68.

BACKGROUND: Mental health challenges are common in autistic individuals but there is limited research, particularly among preschool children. AIMS: To ascertain the nature and occurrence of mental health challenges in autistic preschool children, as well as their association with autistic traits and cognitive and adaptive functioning. METHOD: We conducted a secondary analysis of data collected from children attending Autism Specific Early Learning and Care Centres across six states in Australia. The primary outcome of mental health challenges was assessed using the Child Behaviour Checklist (CBCL). The severity of autism and autistic traits, such as social communication differences and repetitive behaviours, alongside cognitive and adaptive functioning, were used as exposure variables. Multivariable linear regression analyses examined the associations among mental health challenges, autistic traits, cognitive level and adaptive functioning, and adjusted for key sociodemographic covariates. RESULTS: Among 760 children, about 76% scored above the clinical range of CBCL total problem scores. Mental health difficulties were significantly associated with greater severity of autistic traits, social communication differences and repetitive behaviours, and lower verbal developmental functioning and adaptive functioning. Additionally, sociodemographic determinants, such as children who were older, female or with an autistic sibling, were associated with higher risk of mental health difficulties, whereas culturally and linguistically diverse status, higher parental education and family income were protective against mental health challenges. CONCLUSIONS: Our findings provide useful insights into the high prevalence of mental health difficulties among autistic preschool children, highlighting the significant association with autistic traits, cognitive and adaptive functioning levels and sociodemographic risk factors.

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30. Yamada M, Natsume J, Maki Y, Ishimaru S, Numoto S, Kobayashi S, Hattori A, Matsukawa Y, Wakahara K, Ishihara N, Sasaki H, Ito Y, Yamamoto H, Nakata T, Kidokoro H, Yoshikawa T, Saitoh S, Okumura A, Takahashi Y. Clinical profiles of tuberous sclerosis complex: A regionally based survey. Brain Dev;2025 (Dec);47(6):104479.

BACKGROUND: This study aimed to clarify the clinical profiles of patients with tuberous sclerosis complex (TSC) in the general population by a regionally based survey of medical facilities in a region with 7.5 million residents, and investigate differences in clinical profiles according to medical facility size and type. METHODS: A survey was sent to 146 hospitals and clinics regarding clinical profiles of patients with TSC who lived in Aichi Prefecture, Japan, between 2013 and 2018. Medical facilities were classified as large hospitals (≥750 beds or a children’s hospital), small hospitals (<750 beds), institutions for handicapped children, and private clinics. RESULTS: Information was obtained of 232 patients (median age, 25 years; range, 1-81 years). Estimated prevalence of TSC was 3.1 per 100,000. Cortical tubers were present in 88 %, epilepsy in 81 %, autism spectrum disorder in 44 %, and subependymal giant cell astrocytoma in 17 %. Hypomelanotic macules, facial angiofibroma, renal angiomyolipoma, and cardiac rhabdomyoma were present in >50 % of patients. Rates of epilepsy with frequent seizures and autism spectrum disorder were both higher in patients in institutions for handicapped children. In more than half of patients in institutions for handicapped children information on cranial MRI findings was not obtained. CONCLUSIONS: Our regionally based study confirmed the clinical profiles previously reported in specialized hospitals for TSC and found that clinical characteristics differed among the types and sizes of medical facilities. Multicenter information sharing and collaboration between general hospitals and institutions for handicapped children are important for the comprehensive care of patients with TSC.

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31. Zhang J, Hou F, Chen Y, Chen Q, Xiang Z, Wang T, Liang X, Li L, Song R. A Protective Super-Enhancer Variant Regulating SLC7A7 Modulates Autism Spectrum Disorder Risk: A Cross-Population Study. Autism Res;2026 (Feb 16):e70201.

Autism spectrum disorder (ASD) is a highly heritable neurodevelopmental condition with a rising global prevalence. However, the functional role of super-enhancers, the key genomic regulatory elements, remains largely uncharacterized in ASD. This study aims to identify functional single-nucleotide polymorphisms (SNPs) within super-enhancers that regulate ASD-associated genes and to validate their contribution to ASD risk. We integrated 1394 ASD susceptibility genes with 1315 differentially expressed genes and 2954 super-enhancers from the cerebral cortex. SNPs located in these regions were prioritized through expression quantitative trait locus (eQTL) analysis (p < 1 × 10(-4)) and functional prediction tools. The identified candidate SNPs were first assessed in a Chinese case-control study (622 cases and 622 controls) and subsequently validated in a European population using the iPSYCH-PGC dataset (18,381 cases and 27,969 controls). The regulatory effect of a key SNP was further investigated using a dual-luciferase reporter assay. We screened 20 super-enhancers regulating 15 differentially expressed ASD susceptibility genes. From these regions, 11 functional SNPs for population-based validation were identified. Among these, the rs1951568 G>A variant, located within the super-enhancer regulating SLC7A7, demonstrated a significant association with reduced ASD risk in the Chinese population (OR = 0.783, 95% CI: 0.604-0.957, p = 0.017). The protective association was further replicated in the European population (A allele vs. G allele, OR = 0.963, 95% CI: 0.935-0.992, p = 0.012). The eQTL analysis linked the rs1951568-A allele to reduced SLC7A7 expression. Functional characterization confirmed the variant’s regulatory activity and predicted that the A allele enhanced binding motifs for the transcriptional repressors TBX5 and ZEB1. Our findings identify rs1951568-A as a novel protective variant for ASD within a SLC7A7 super-enhancer. This allele likely confers protection by modulating SLC7A7 expression, potentially through enhanced repressor binding, highlighting the importance of super-enhancer variants in ASD etiology. A protective genetic variant within a super‐enhancer was discovered to reduce autism risk in children. This finding, replicated in Chinese and European populations, clarifies how genetics affects autism susceptibility. eng

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