1. Afarinesh MR, Ahmadi BBM, Sabzalizadeh M, Sheibani V. Response Characteristics of Barrel Cortical Neurons in Layers IV/V of Juvenile Rats with Autism-Like Traits after Tactile Stimulation. Physiol Behav;2025 (Sep 5):115093.

The barrel cortex is a specialized region of the primary somatosensory cortex that processes tactile information from whiskers. This study investigates how tactile stimulation (TS) affects excitatory receptive fields and surrounds suppression in barrel cortex neurons of male and female autistic-like rats, using various whisker displacement protocols. The animals were categorized into control, Valproic acid pre-treated (Val), and Val-TS treatment groups. In male Val-TS rats, TS reduced layer IV ON/OFF amplitudes for principal and adjacent whisker displacements, while only OFF response latency to principal whisker displacement decreased. In females, Val group showed increased ON/OFF amplitudes, which decreased in Val-TS, returning to control levels. ON/OFF response latency to principal whisker displacement increased in Val-TS, returning to control. Tactile stimulation more effectively remodeled receptive fields and temporal timing in female barrel cortex. In layer V, male Val-TS rats showed no significant amplitude differences but decreased ON/OFF latencies to principal whisker displacement. Adjacent whisker responses were largely unchanged. In females, Val-TS rats had increased ON/OFF amplitudes to principal whisker displacement, but no latency changes. Adjacent whisker responses showed amplitude and latency differences, suggesting receptive-field expansion and remodeling. In terms of inhibitory responses, conditioning test (CT) ratio analysis indicated significant group effects for both ON and OFF responses in layer IV, with the Val-TS group showing higher CT-ratios than the Val and control groups for both sexes. Layer V responses indicated similar trends, with elevated CT-ratios in male rats under Val-TS conditions, whereas females did not show significant differences. Overall, these findings reveal distinct variations in responses of the barrel cortex neurons based on sex and treatment conditions, emphasizing the nuanced impact of interventions on neuronal responsiveness. This research enhances our understanding of sex-dependent neural adaptations and their implications for sensory processing and neuroplasticity in response to external stimuli.

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2. Beyad F, Bonyadi M, Barzegar M. Identification of a Novel TRIT1 Mutation in a Consanguineous Iranian-Azeri-Turkish Family With Global Developmental Delay. Int J Dev Neurosci;2025 (Oct);85(6):e70053.

Global developmental delay (GDD) and intellectual disability (ID) affect up to 3% of the paediatric population, with a multifactorial aetiology that complicates genetic identification. To date, over 400 genes have been implicated in GDD. Here, we report a novel homozygous splice acceptor variant, NC_000001.11(NM_017646.6):c.1235-3C>G, in the TRIT1 gene, classified as ‘likely pathogenic’ through bioinformatics analysis. The proband, a 5-year-old male from a consanguineous family, presented with severe GDD, microcephaly, progressive spasticity, contractures, dysmorphic features (low-set ears, high-arched palate, simian creases and hypospadias), and refractory seizures (focal motor clonic, generalized myoclonic, and tonic) since 6 months of age. Brain MRI revealed nonspecific atrophy, while metabolic, laboratory and electrophysiological evaluations were unremarkable. To further assess the variant’s frequency, we screened 430 healthy individuals from the same ethnic group and found no occurrences of the variant. Notably, this variant has not been documented in any published population databases, including gnomAD, the 1000 Genomes Project, Genome Asia, GME Variome and Iranome, despite coverage of the locus in these databases. Taken together, these findings strongly support the potential pathogenicity of the variant. In addition, the prenatal diagnosis results from the subsequent pregnancy in this family showed that the embryo was heterozygous for the mutation. The baby was born, and follow-up studies indicated that she was healthy, with no clinical manifestations observed in her affected brother. This further supports the classification of the variant as ‘likely pathogenic.’ This study expands the phenotypic spectrum of TRIT1-related disorders.

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3. Bustangi NM, Al-Bihani B. Laparoscopic management of small bowel obstruction due to unusual foreign body ingestion in a child with autism: a case report. J Surg Case Rep;2025 (Sep);2025(9):rjaf615.

Foreign body ingestion in children, especially those aged 6 months to 3 years, is a common clinical concern. While most objects pass through the gastrointestinal tract uneventfully, some may result in obstruction and necessitate surgical intervention. We report a rare case of a 10-year-old child with autism who presented with small bowel obstruction following ingestion of a rubber feeding bottle nipple. Imaging confirmed the object lodged in the proximal jejunum. The patient underwent successful laparoscopic extraction of the foreign body and concurrent appendectomy for acute appendicitis. Postoperative recovery was uneventful, and the patient was discharged on Day 5. This case supports laparoscopic intervention as a safe and effective option for managing gastrointestinal foreign bodies and concomitant intra-abdominal pathology in pediatric patients.

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4. Dyer K, Linnehan AM, Weiss MJ. Fostering Belonging in Autistic Individuals. J Autism Dev Disord;2025 (Sep 4)

This commentary explores the concept of belonging as a critical yet often overlooked goal in supporting autistic individuals. While inclusive practices have expanded educational access, they do not consistently foster the emotional and relational experience of belonging. A targeted literature review was conducted to synthesize research on belonging, autism, and applied behavior analysis. Articles were selected based on their relevance to belonging, personal identity, and inclusive practices. Key themes include the distinction between inclusion and belonging, the definition and significance of belonging, challenges faced by the autistic community in achieving it, and research and educational recommendations derived from current literature and conceptual analysis to promote belonging among autistic individuals. Belonging must be prioritized as a meaningful outcome in autism support. Achieving this requires continued progress in defining, measuring, and intervening to enhance the subjective experience of belonging, as well as refining research and educational recommendations.

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5. Ebrahim F, Gretschel P, Abbas I. Striving to provide conditional access: strategies parents use to mediate the screentime of their children with autism spectrum disorder. Front Child Adolesc Psychiatry;2025;4:1540147.

INTRODUCTION: There has been a growing presence of screentime, in the lives of children, with an escalation in use during the COVID-19 pandemic restrictions. Children with autism spectrum disorder show a particular preference for engagement in screentime. Gaining parental understandings of the steps they take to mediate excessive screentime can assist in developing interventions which mitigate the well documented negative impacts of screentime for children with autism spectrum disorder. This paper presents the findings of a study which explored parental perceptions of the screentime use and the strategies parents used to manage the screentime engagement of their children with autism spectrum disorder. METHODS: A qualitative descriptive design, using semi-structured, in-depth interviews with seven purposively selected parents, was used to achieve the above objectives. Data was thematically analysed using an inductive approach. RESULTS: One of the four themes generated during the study; Striving to provide conditional access to screentime details the varied mediation strategies parents used to manage their child’s screentime under the two categories of Content monitoring and Setting limits. DISCUSSION: The findings of this study, describing the various restrictive strategies parents use to manage the screentime use of their children, were comparable to prior studies. Findings that built on existing evidence, describe the strategies parents used i.e., distraction and preparing for the cessation of screentime, to manage screentime in a way that avoided negative behaviour in their child and parental stress linked to this behaviour. It is certain, that screentime will remain a predominant occupation for children with autism spectrum disorder therefore, early childhood interventionists need to consider how to optimize the nature of engagement of screentime.

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6. Farhah NS, Alqarni AA, Ebrahim N, Ahmad S. Diagnosing autism spectrum disorders using a double deep Q-Network framework based on social media footprints. Front Med (Lausanne);2025;12:1646249.

INTRODUCTION: Social media is increasingly used in many contexts within the healthcare sector. The improved prevalence of Internet use via computers or mobile devices presents an opportunity for social media to serve as a tool for the rapid and direct distribution of essential health information. Autism spectrum disorders (ASD) are a comprehensive neurodevelopmental syndrome with enduring effects. Twitter has become a platform for the ASD community, offering substantial assistance to its members by disseminating information on their beliefs and perspectives via language and emotional expression. Adults with ASD have considerable social and emotional challenges, while also demonstrating abilities and interests in screen-based technologies. METHODS: The novelty of this research lies in its use in the context of Twitter to analyze and identify ASD. This research used Twitter as the primary data source to examine the behavioral traits and immediate emotional expressions of persons with ASD. We applied Convolutional Neural Networks with Long Short-Term Memory (CNN-LSTM), LSTM, and Double Deep Q-network (DDQN-Inspired) using a standardized dataset including 172 tweets from the ASD class and 158 tweets from the non-ASD class. The dataset was processed to exclude lowercase text and special characters, followed by a tokenization approach to convert the text into integer word sequences. The encoding was used to transform the classes into binary labels. Following preprocessing, the proposed framework was implemented to identify ASD. RESULTS: The findings of the DDQN-inspired model demonstrate a high precision of 87% compared to the proposed model. This finding demonstrates the potential of the proposed approach for identifying ASD based on social media content. DISCUSSION: Ultimately, the proposed system was compared against the existing system that used the same dataset. The proposed approach is based on variations in the text of social media interactions, which can assist physicians and clinicians in performing symptom studies within digital footprint environments.

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7. Iannuzzelli CC, Iannuzzelli AL, Cunha B, Venkataraman V, Aita W. Exploring the impact of methylenetetrahydrofolate reductase (MTHFR) gene variations on autism spectrum disorder severity. J Osteopath Med;2025 (Sep 5)

CONTEXT: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by challenges in social communication and repetitive behaviors. Its etiology is influenced by a combination of genetic and environmental factors. Variations in the methylenetetrahydrofolate reductase (MTHFR) gene, which is implicated in folate metabolism and neurodevelopment, are widespread in the autism population. Understanding the relationship between MTHFR gene variations and ASD may be critical for early diagnosis and intervention. OBJECTIVES: This study aims to investigate the association between MTHFR gene variations and the severity of ASD symptoms in a clinical cohort. The goal is to determine whether reduced MTHFR activity correlates with increased symptom severity, thus offering insights into potential mechanisms and intervention strategies. METHODS: A cohort of 78 patients diagnosed with ASD who had previously undergone genetic testing to measure MTHFR activity levels were recruited. ASD severity was assessed utilizing DSM-5 criteria. Statistical analyses were performed to evaluate the relationship between MTHFR activity and ASD symptom severity. RESULTS: The analysis identified a significant negative correlation between MTHFR activity levels and ASD severity (p<0.05). Patients with lower MTHFR activity exhibited more severe ASD symptoms, as measured by DSM-5 classifications. These findings emphasize the potential link between MTHFR gene variations and neurodevelopmental outcomes in ASD. CONCLUSIONS: This study highlights the role of MTHFR gene variations in modulating ASD severity. The results support the potential for utilizing MTHFR activity as a biomarker for early screening and tailoring targeted interventions for individuals with MTHFR deficiencies. Due to a small sample size, any conclusions drawn from this study are limited and may be misleading in future studies. Further research is warranted to explore the underlying mechanisms and to develop clinical strategies that mitigate the impact of these genetic variations on ASD progression.

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8. Kim SW, Lee H, Song DY, Lee GH, Han JH, Lee JW, Byun HJ, Son JH, Kim YR, Lee Y, Kim E, Werling DM, Kim SH, Sanders SJ, Yoo HJ, An JY. Publisher Correction: Evaluation of familial phenotype deviation to measure the impact of de novo mutations in autism. Genome Med;2025 (Sep 4);17(1):99.

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9. Kim Y, Gakh M, Park SM, Ioanitoaia-Chaudhry I, Tabrizi M, An H, Yoo JW. Ameliorating risks of maltreatment for adults with intellectual and developmental disabilities. J Elder Abuse Negl;2025 (Sep 5):1-6.

Although health care access among adults with Intellectual and Developmental Disabilities (IDD) improved in the past decade, persistent challenges still exist in obtaining care coordination and supportive services. As the life expectancy of individuals living with IDD increases and care succession occurs from family’s community care to institutional care, the risk of maltreatment among adults with IDD is growing. Health conditions, for example, cognitive impairment pose a risk of maltreatment in adults with IDD. This commentary aims at addressing the contribution of these health conditions and better health care workforce training in order to ameliorate the risk of maltreatment among adults with IDD.

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10. Klein M, Witthöft M, Jungmann SM. Interoception in individuals with autism spectrum disorder: a systematic literature review and meta-analysis. Front Psychiatry;2025;16:1573263.

This systematic review and meta-analysis synthesize current research on interoception in individuals with autism spectrum disorder (ASD) across the lifespan. A total of 31 studies meeting stringent inclusion and quality criteria were identified, incorporating both descriptive and numerical analyses of cardiac interoceptive accuracy (cIA), interoceptive sensibility (IS), and interoceptive awareness (IAW) in children, adolescents, and adults with ASD. The meta-analysis of five adult studies using comparable assessment tools found no significant differences in cIA between adults with ASD and neurotypically developed (NTD) controls [N = 5; μ^ = -.21 (SE = .11), p = .06]. Descriptive summaries of studies in children and adolescents, as well as those examining IS and IAW across age groups, revealed inconsistent findings-some studies reported reduced, increased, or similar interoceptive abilities in ASD compared to NTD. Methodological diversity, differences in measurement instruments, and variability in sample characteristics likely contribute to these inconsistencies. Moderator variables such as age, intelligence quotient (IQ), and comorbidities may influence interoceptive outcomes. Overall, the evidence indicates that ASD is not systematically associated with altered cIA, and the relationship between ASD and other interoceptive dimensions remains unclear. These findings underscore the need for more standardized methodologies and longitudinal research to clarify developmental trajectories and potential clinical implications of interoceptive processing in ASD. A deeper understanding of these mechanisms could lead interventions aimed at improving emotion regulation and social functioning in ASD. SYSTEMATIC REVIEW REGISTRATION: https://osf.io/f3ru4, identifier [doi.org/10.17605/OSF.IO/F3RU4].

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11. Klitzman R, Bezborodko E, Chung WK, Appelbaum PS. Ambiguities faced by parents who received a genetic diagnosis for autistic offspring with intellectual disabilities. J Community Genet;2025 (Sep 5)

Genetic testing is now routinely recommended for autism and/or intellectual disability (ID), but how parents deal with the uncertainties that may be involved has not been explored. We interviewed 28 parents who had received results identifying de novo genetic variants responsible for their offspring’s autism. Parents faced six broad types of ambiguities concerning: cause of the de novo variant, likelihood of medical manifestations, children’s future independence and support needs, availability of future medical benefits/treatments, potential social benefits and potential social harms. These ambiguities prompted anxiety/stress. Parents tried to manage these uncertainties in several ways: focusing on the child’s immediate needs, seeking more information, seeking bases of comparison in other children, monitoring for future symptoms (and often enlisting others to do so), seeking metaphors and conceptual frameworks to understand uncertainties, making and accepting trade-offs, and participating in research. Several factors influence these uncertainties and responses, including age/life-stage of the child, psychological factors, concerns about the future of the broader healthcare and insurance systems, potential differences due to geography (e.g., local variations in medical, social and educational services available) and scientific background and literacy. Members of a couple also often perceive and respond to these issues differently. These data, the first to examine the ambiguities that arise when receiving genetic diagnoses for their autistic offspring with ID, reveal the key roles of several social factors and have important implications for future research, education of families, and training and practice of healthcare providers, teachers, social service agencies, policymakers and others.

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12. Kurokawa S, Kawade Y, Nomura K, Hosogane N, Nagasawa T, Matsumoto Y, Morinaga S, Kaise Y, Higuchi A, Goto A, Inada N, Kodaira M, Kishimoto T. Evaluating Telepsychiatric Assessment Satisfaction in Children and Adolescents With Autism Spectrum Disorder and Attention-Deficit/Hyperactivity Disorder and Their Caregivers: Randomized Controlled Trial. JMIR Pediatr Parent;2025 (Sep 5);8:e69791.

BACKGROUND: Children and adolescents with attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) often face structural and psychological barriers in accessing medical care, including economic costs, long wait times, and stress of attending new medical environments. The COVID-19 pandemic accelerated the adoption of telehealth services to overcome these challenges. However, few studies have assessed the satisfaction levels of children and adolescents diagnosed with neurodevelopmental disorders and their caregivers when they use telepsychiatry, particularly in Japan. OBJECTIVE: This study aimed to evaluate satisfaction by conducting telepsychiatric assessments in children and adolescents diagnosed with ADHD or ASD and their caregivers and to identify factors associated with higher satisfaction levels. METHODS: A total of 68 patients aged 6-17 years with a confirmed diagnosis of ADHD or ASD and their caregivers participated in this study. The participants were recruited from Keio University Hospital and four collaborating institutions in Japan. Each patient and their caregiver underwent two assessment sessions, one face-to-face and the other via telepsychiatric assessment (a remote video tool), in a randomized order. Upon completing both assessments, the participants completed a satisfaction questionnaire using a 5-point Likert scale that covered aspects such as audio and video quality, seamless communication, perceived warmth, reduced burden, and the ability to behave naturally. Spearman rank correlation coefficients and multiple regression analyses were performed to identify factors associated with overall satisfaction. RESULTS: Among the patients, 70% (47/67) reported being « satisfied » or « very satisfied » with the telepsychiatric assessment, and 88% (60/68) of caregivers reported similar satisfaction levels. Multiple regression analysis showed that in children, high satisfaction was associated with seamless viewing of the screen, reduced burden of hospital visits, and the ability to speak naturally during the assessment. For caregivers, visual clarity and the child’s natural behavior were crucial factors. CONCLUSIONS: Telepsychiatric assessments are an effective and practical option to provide care for children and adolescents diagnosed with ADHD or ASD and their caregivers, offering high levels of satisfaction. Technical reliability and reduced travel burden significantly contributed to positive experiences. However, ensuring that children and adolescents behave naturally and feel a sense of warmth during remote assessment is crucial to maximizing their satisfaction. Telepsychiatric services can enhance the quality of health care, making them valuable supplementary tools for clinical practice.

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13. Lin S, Sun X, Zhou Y, Ding Z, Jiang K, Feng J. Phelan-McDermid syndrome in a Chinese pediatric patient: A case report – new heterozygous mutations lead to PMS. Medicine (Baltimore);2025 (Sep 5);104(36):e44114.

RATIONALE: Phelan-McDermid syndrome, also known as chromosome 22q13.3 deletion syndrome, is a genetic disorder primarily caused by a chromosome 22q13.3 deletion or mutation. The primary clinical manifestations include intellectual disability, delayed language development, behavioral delays, hypotonia, autism spectrum disorder, mild deformities, and epilepsy. The clinical symptoms of this disease are associated with chromosomal deletions, and mild cases may be easily misdiagnosed as autism spectrum disorder. PATIENT CONCERNS: A 3-year-old girl was admitted for « chromosomal abnormality (heterozygous deletion) and developmental delay. » After admission, we found that the child’s overall growth retardation (mainly language and movement) and accompanied by obvious social disorders, but the muscle strength and muscle tension were basically normal; brain magnetic resonance imaging and electroencephalography were not obvious abnormalities. Gene copy number variation analysis showed that there was a new pathogenic heterozygous deletion of 1.21 Mbp in the chromosome 22:50014294-51220722 region, and the genomes of both parents were wild-type. DIAGNOSES: Combined with the clinical manifestations of the child, the child was finally diagnosed with mild Phelan-McDermid syndrome. INTERVENTIONS: The children received systematic rehabilitation treatment. OUTCOMES: Her language, social, and motor abilities were significantly improved. LESSONS: Phelan-McDermid syndrome may be easily misdiagnosed as autism spectrum disorder. Our report enriches the clinical phenotype of Phelan-McDermid syndrome and provides a realistic and reliable basis for clinicians.

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14. Menezes M, Linde J, Howard M, Pappagianopoulos J, Kuhn J, Boyd BA, Mazurek MO. Associations Among Demographic and Clinical Characteristics and Discrimination Experiences of Autistic Youth. J Autism Dev Disord;2025 (Sep 4)

PURPOSE: Autistic individuals experience discrimination as a neurominority. Nonetheless, there has been limited research on characteristics or factors contributing to discrimination against autistic people. Therefore, this study sought to examine demographic and clinical predictors of discriminatory experiences of autistic children and adolescents utilizing a large, population-based sample. METHODS: Data were obtained from the 2021 and 2022 National Survey of Children’s Health, a nationally distributed caregiver-report questionnaire. Participants included 2,297 autistic youth (6-17 years old). Two separate binary logistic regressions were conducted for the prediction of race or ethnicity discrimination and health condition or disability discrimination. Predictors were child age, sex, race, ethnicity, autism « severity, » behavior problems, and intellectual disability, and household income. RESULTS: Results demonstrated a relationship between minoritized racial and ethnic background and increased likelihood of discrimination due to race/ethnicity and health condition/disability. Relationships between older age and greater odds of race/ethnicity and health condition/disability discrimination experiences were also found. Furthermore, « more severe » autism, intellectual disability, and challenging behavior were associated with increased odds of health condition/disability discrimination. CONCLUSION: This study highlights characteristics of autistic youth that may increase their risk for experiencing discrimination and should inform practices and policies to reduce discrimination against autistic people.

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15. Molitor J, Graniou J, Salin P, Castets F, Fatmi A, Kerkerian-Le Goff L, Fasano L, Caubit X, Gubellini P. Altered striosome-matrix distribution and activity of striatal cholinergic interneurons in a model of autism-linked repetitive behaviors. Mol Psychiatry;2025 (Sep 5)

Repetitive behaviors are cardinal features of many brain disorders, including autism spectrum disorder (ASD). We previously associated dysfunction of striatal cholinergic interneurons (SCINs) with repetitive behaviors in a mouse model based on conditional deletion of the ASD-related gene Tshz3 in cholinergic neurons (Chat-cKO). Here, we provide evidence linking SCIN abnormalities to the unique organization of the striatum into striosome and matrix compartments, whose imbalances are implicated in several pathological conditions. Chat-cKO mice exhibit an altered relationship between the embryonic birthdate of SCINs and their adult striosome-matrix distribution, leading to an increased proportion of striosomal SCINs. In addition, the ratio of striosomal SCINs with slow-irregular vs. sustained-regular firing is increased, which translates into decreased activity, further stressing the striosome-matrix imbalance. These findings provide novel insights into the pathogenesis of ASD-related stereotyped behaviors by pointing to abnormal developmental compartmentalization and activity of SCINs as a substrate.

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16. Nitzan I, Khanchin G, Safir M, Wajnsztajn D. Myopia and astigmatism in adolescents with autism spectrum disorder. J aapos;2025 (Sep 5):104628.

Of 894,375 Israeli adolescents undergoing standardized medical and ocular assessments in our nationwide cross-sectional study, 2,622 (0.3%) had autism spectrum disorder (ASD). Adolescents with ASD had significantly higher adjusted odds of both myopia and astigmatism compared with peers who did not have ASD. A dose-response relationship was observed for both myopia severity and astigmatism cylinder power. Associations were consistent across all astigmatism axis orientations, most notably with-the-rule. These findings suggest that early and routine vision screening may be beneficial in identifying and addressing refractive errors among youth with ASD.

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17. Northrup JB, Nuske HJ, Hipwell AE, Mazefsky CA. Review and Developmental Model: Early Childhood Emotion Regulation and Co-Regulation in Autism. J Am Acad Child Adolesc Psychiatry;2025 (Sep 2)

OBJECTIVE: Emotion regulation (ER) and dysregulation (ED) significantly impact the mental health and quality of life of autistic individuals and their families, yet little is known about ER development in early childhood autism. This paper proposes a developmental model of disruptions to early ER development, emphasizing parent-child co-regulation, to guide future research and clinical care. METHOD: Empirical research on ER, ED, and parent-child co-regulation in young autistic children (mean age < 6 years) was summarized. Insights from theoretical and empirical work on typical ER development, with a focus on parent-child co-regulation, were integrated with autism research to propose a novel developmental model. RESULTS: Research on ER and ED in young autistic children remains limited and lacks a developmental framework. Parent-child co-regulation is identified as a key mechanism in ER development, operating across micro (moment-by-moment) and macro (long-term) time scales. Autism-specific challenges, such as pervasive and idiosyncratic triggers, reduced emotional awareness, and ambiguous emotional communication, can disrupt parent-child co-regulation. These disruptions reduce opportunities for teaching and internalizing effective ER strategies and can lead parents and children to rely on "quick fix" strategies (e.g., avoidance), ultimately hindering long-term ER development and negatively impacting mental health. CONCLUSION: Understanding disruptions to ER development in autism within parent-child interactions offers a framework for research and clinical care. Developing autism-specific measurement tools and employing longitudinal, ecological, and "measurement burst" designs will be critical to uncovering disrupted dyadic processes. Future research and clinical efforts must address the unique experiences and needs of autistic children and their families.

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18. Safari N, Levy I, Zhang A, Agarwal C, Cortes JM, Pelphrey KA, Van Horn JD, Rasero J. Brain morphology network alterations in adolescents with autism spectrum disorder: a sex-stratified study. bioRxiv;2025 (Aug 28)

BACKGROUND: One of the most persistent questions in autism research is why males are more consistently diagnosed than females. Neuroimaging studies have sought to understand this disparity by examining sex differences, primarily through functional and structural connectivity. However, much less is known about how brain networks are organized in autism from a morphological perspective, and how this organization may help explain its sex-related characteristics. This study aimed to elucidate sex-specific alterations in morphology-based connectivity among adolescents with autism spectrum disorder (ASD). METHODS: T1-weighted MRI scans from 337 individuals (181 with ASD; 162 females in total), aged 8-18 years, were preprocessed using FreeSurfer to extract five morphological features-thickness, surface area, sulcal depth, mean curvature, and gray matter volume-across 68 cortical regions. Connectivity was estimated via Kullback-Leibler divergence between region-wise multivariate feature distributions. Network-Based Statistics was applied within sex-stratified models to identify clus-ters of significantly altered connections in ASD relative to controls (individual edge threshold p = 0.005; FWE-corrected p = 0.05; 5,000 permutations). An exploratory post hoc analysis using partial correlations further associated identified sex-specific network profiles with behavior and comorbidity. RESULTS: ASD males showed significantly increased connectivity in a cluster centered on the fusiform gyrus, along with the medial orbitofrontal, entorhinal, and parahippocampal cortices. This pattern was positively correlated with restricted and repetitive behaviors (r = 0.22, 95% CI [0.01, 0.41]). In females with ASD, increased connectivity was found in a sub-network implicating mainly the entorhinal cortex, followed by the inferior parietal lobule, and lateral occipital cortex. Notably, the fusiform gyrus was disrupted yet in the opposite direction, exhibiting decreased connectivity with the superior temporal sulcus. These alterations were negatively associated with communication skills (r = -0.25, 95% CI [-0.45, -0.03]). No overlap between male- and female-specific profiles was found, highlighting their distinctiveness. LIMITATIONS: Our cross-sectional sample does not allow for neurodevelopmental inference. Sex-stratified modeling precluded sex-by-diagnosis testing. CONCLUSIONS: Males and females with ASD show non-overlapping profiles of altered morphology-based connectivity, each associated with different behavioral traits, which may contribute to better characterize sex differences in autism.

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19. Shen Y, Xie Y, Zheng Y, Zheng Y, Liu Y. Vitamin Interventions in ASD and ADHD: Systematic Review and Meta-Analysis. Neuropsychiatr Dis Treat;2025;21:1845-1855.

BACKGROUND: Vitamin interventions have emerged as a cost-effective and accessible approach to managing Autism Spectrum Disorder (ASD) and Attention-Deficit/Hyperactivity Disorder (ADHD), primarily for alleviating gastrointestinal symptoms such as constipation. Recent studies suggest vitamins may also improve core symptoms, yet most existing research focuses on comparisons between patients and healthy controls, lacking clinically relevant, evidence-based insights. METHODS: A meta-analysis was conducted using studies retrieved from PubMed, Web of Science, and the Cochrane Library, focusing on vitamin interventions in ASD and ADHD populations. RESULTS: The findings indicate that vitamin supplementation significantly improves symptoms in both ASD and ADHD. However, the effects vary by vitamin type and disorder. Vitamin B supplementation was particularly effective in reducing ASD-related symptoms, while vitamin D supplementation showed greater efficacy in improving ADHD symptoms. CONCLUSION: Different vitamins exert disorder-specific therapeutic effects, suggesting their potential role in guiding tailored clinical interventions for ASD and ADHD.

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20. Starr AL, Fraser HB. A General Principle of Neuronal Evolution Reveals a Human-Accelerated Neuron Type Potentially Underlying the High Prevalence of Autism in Humans. Mol Biol Evol;2025 (Sep 1);42(9)

The remarkable ability of a single genome sequence to encode a diverse collection of distinct cell types, including the thousands of cell types found in the mammalian brain, is a key characteristic of multicellular life. While it has been observed that some cell types are far more evolutionarily conserved than others, the factors driving these differences in the evolutionary rate remain unknown. Here, we hypothesized that highly abundant neuronal cell types may be under greater selective constraint than rarer neuronal types, leading to variation in their rates of evolution. To test this, we leveraged recently published cross-species single-nucleus RNA-sequencing datasets from three distinct regions of the mammalian neocortex. We found a strikingly consistent relationship where more abundant neuronal subtypes show greater gene expression conservation between species, which replicated across three independent datasets covering >106 neurons from six species. Based on this principle, we discovered that the most abundant type of neocortical neurons-layer 2/3 intratelencephalic excitatory neurons-has evolved exceptionally quickly in the human lineage compared to other apes. Surprisingly, this accelerated evolution was accompanied by the dramatic down-regulation of autism-associated genes, which was likely driven by polygenic positive selection specific to the human lineage. In summary, we introduce a general principle governing neuronal evolution and suggest that the exceptionally high prevalence of autism in humans may be a direct result of natural selection for lower expression of a suite of genes that conferred a fitness benefit to our ancestors while also rendering an abundant class of neurons more sensitive to perturbation.

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21. Xian P, Wang M, Xie R, Ma H, Zheng W, Kang J, Chen Y, Liu H, Dong S, Liu H, Zhang W, Mao H, Wang F, Yang N, Yu J, Zhao N, Wang Y, Wu S. Mitochondrial dysfunction reveals H(2)S-mediated synaptic sulfhydration as a potential mechanism for autism-associated social defects. Cell Metab;2025 (Aug 26)

Clinical studies have identified multiple mitochondrial disturbances in the peripheral tissues of patients with autism. However, how neuronal metabolism contributes to the autism-associated phenotype remains unclear. In this study, we focused on the anterior cingulate cortex (ACC) and reported hydrogen sulfide (H(2)S) elevation as a common outcome to mitochondrial dysfunction in Shank3b(-/-) and Fmr1(-/y) neurons. Cystathionine β-synthase overexpression in ACC impaired synaptic transmission and social function in wild-type mice, while its knockdown effectively rescued synaptic and social defects in both autism mouse models. Dramatic changes in synaptic protein sulfhydration were observed in Shank3b(-/-) ACC, with over-sulfhydration of mGluR5 validated in both models. Ablating mGluR5 sulfhydration partially alleviated social deficits in both strains. Furthermore, sulfur amino acid restriction ameliorated social dysfunction in Shank3b(-/-) and Fmr1(-/y) mice and synaptic defects in corresponding human neurons. Our data indicate that excessive H(2)S and synaptic protein sulfhydration may serve as potential mechanisms underlying the autism-associated social dysfunction.

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22. Xin Y, Dou J, Yang R, Wang Y, Li P, Zhang X, Liu X, Yang J. Global, regional, and national burden of lead-attributable intellectual developmental disability in children and adolescents from 1990 to 2021, with projections up to 2040: the global burden of disease 2021 study. Eur J Pediatr;2025 (Sep 5);184(9):601.

Long-term lead exposure damages the central nervous system, with chronic poisoning strongly linked to intellectual developmental disability (IDD) and disproportionately affecting children and adolescents. Using the Global Burden of Disease (GBD) 2021 database, this study analyzed temporal, spatial, and population-specific trends in lead-attributable IDD burden among global children/adolescents (1990-2021) and projected trends to 2040 to inform global public health strategies. GBD 2021 data characterized global, regional, and national distributions of lead-attributable IDD burden. Associations with sex, age, and Socio-Demographic Index (SDI) were evaluated via Years Lived with Disability (YLDs) and Age-Standardized YLD Rate (ASYR). Joinpoint regression quantified annual burden changes, and the Nordpred model projected 2021-2040 trends. Globally, ASYR fell from 58.088 to 38.718 per 100,000 (AAPC = -1.297%, P < 0.001), with high-SDI countries seeing a 54.0% reduction (AAPC = -2.486%) versus 32.8% in low-SDI regions. Paradoxically, low-SDI YLDs rose by 39.7%. In 2021, ASYR peaked in 15-19-year-olds at 39.906 (males) and 41.146 (females). South Asia, led by India (119.30 per 100,000), remained a high-burden hotspot. SDI correlated negatively with ASYR (ρ = -0.76, P < 0.001), with projections showing global YLDs declining to 863,352 person-years by 2040 (ASYR = 33.057). CONCLUSION: While global progress has been made in reducing lead exposure-induced IDD, South Asia and low-SDI nations bear persistently high burdens. Strengthened international collaboration and targeted lead reduction policies are critical to advancing health equity for young people. WHAT IS KNOWN: • Trend of the global disease burden of IDD attributed to lead exposure in the total population from 1990 to 2019. WHAT IS NEW: • Trend of the global disease burden of IDD attributed to lead exposure in children and adolescents from 1990 to 2021, with projections up to 2040.

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23. Yan J, Zhang Z, Keyser C, Li Y, Rosolia B, Jiang P, Su B, Zhang W, Porch M, Zukin RS. Autophagy controls the hippocampal postsynaptic organization and affects cognition in a mouse model of Fragile X syndrome. Res Sq;2025 (Aug 27)

Dysregulated spine morphology is a common feature in pathology of many neurodevelopmental and neuropsychiatric disorders. Overabundant immature dendritic spines in the hippocampus are causally related to cognitive deficits of Fragile X syndrome (FXS), the most common form of heritable intellectual disability. Recent findings from us and others indicate autophagy plays important roles in synaptic stability and morphology, and autophagy is downregulated in FXS neurons. However, the mechanism remains unclear. In this study, we identified that activated autophagy degrades the eukaryotic initiation factor 4G1 (eIF4G1) and postsynaptic density protein-95 (PSD-95) in hippocampal neurons of Fmr1 KO mice and FXS neurons from patients, which subsequently corrected the dysregulated postsynaptic organization and actin assembly, the critical processes determining synaptic maturation and density. Centrally activating autophagy in hippocampus degrades eIF4G1 and PSD-95, restores actin dynamics, and improves cognition of Fmr1 KO mice. In human neurons derived from patients diagnosed with both FXS and intellectual disability, activating autophagy corrected the aberrant actin assembly. Thus, our findings revealed a previously unappreciated mechanism through which autophagy affects actin assembly and synaptic organization, suggesting a critical role of autophagy in regulating structural synaptic plasticity in healthy and diseased conditions.

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24. Yarger HA, Redcay E, Herrington J, Kerns CM, Thomas SB. Assessing anxiety in adolescents with autism spectrum disorder (ADORA): developing a health equity protocol for non-invasive biomarkers. BMJ Open;2025 (Sep 4);15(9):e107684.

INTRODUCTION: Identifying anxiety disorders in autistic youth can be challenging due to the unique presentation of anxiety symptoms in autistic youth and the difficulties youth may have reporting on their own anxiety symptoms. These challenges underscore the need for objective and reliable measures. Understanding whether autonomic activity is associated with the presence of anxiety may lead to its use as an objective anxiety assessment tool in individuals who may otherwise struggle to communicate their feelings of anxiety. Most published studies examining autonomic activity and anxiety in autistic individuals lack information regarding racial demographic information, and those that do are predominantly composed of White individuals. These findings highlight the critical need for future research that includes more diverse samples and uses consistent, ecologically valid methods to examine the relation between anxiety and autonomic activity in autistic populations. This study aims to recruit a large sample of racially diverse adolescents to evaluate whether atypical autonomic activity serves as a biomarker of anxiety in autistic and non-autistic youth. This manuscript outlines the recruitment strategies for this study protocol, providing a framework for understanding the interplay between physiological, psychological and contextual factors including self-identified race in anxiety among autistic and non-autistic adolescents. METHODS AND ANALYSIS: Autistic (n=80) and non-autistic (n=80) adolescents aged 11-14 years and their caregivers will be invited to participate in the current study. Autism diagnosis will be confirmed by gold-standard assessments. All participants will complete an in-person visit assessing their child’s cognitive abilities and trait-level anxiety and mental health symptoms, learn how to wear a non-invasive heart rate band that will collect ECG and respiration data, complete a 5-minute in-lab baseline of autonomic activity and enroll in experience sampling. Next, participants will complete three 5-minute baselines of autonomic activity at home, followed by 5 days of wearing the heart rate band for 5 hours per day, overlapping with ecological momentary assessment of their mood. Primary outcome measures include trait-level parent and self-reports of anxiety, real-time self-reports of anxiety captured through ecological momentary assessment, and both baseline and in-the-moment heart rate variability. ETHICS AND DISSEMINATION: The study protocol has been approved by the University of Maryland’s Institutional Review Board. Results will be disseminated through peer-reviewed publications and conferences. Deidentified data from participants who consent to have their data shared with other researchers will be uploaded to the National Data Archive Collection C5316.

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25. Zhou YH, Sun G. Organophosphate Flame Retardants Disrupt Neurodevelopmental Gene Networks with Autism-Relevant Features: A Multi-Omics Study in Rats. Environ Res;2025 (Sep 2):122734.

Organophosphate flame retardants (OPFRs) are widely used environmental contaminants with suspected developmental neurotoxicity, yet their stage-specific molecular impacts and potential relevance to autism spectrum disorder (ASD) remain poorly defined. We integrated transcriptomic and lipidomic analyses from two rat models to investigate OPFR-induced disruption across early neurodevelopment. In dataset GSE148266, fetal forebrain and placenta were analyzed following in utero OPFR exposure; in dataset GSE211430, neonatal cortical RNA-seq and lipidomics were profiled after postnatal exposure to triphenyl phosphate and isopropylated triaryl phosphate (1,000 μg/day; n = 10/sex/group). Differential expression (DESeq2; FDR < 0.05), pathway enrichment (GSEA), and multi-omics integration (DIABLO; |r| > 0.9) were performed. Fetal exposure altered 191 genes (144 mapped to human orthologues), including ASD-relevant genes such as ADNP, BRAF, and MAPK3, with enrichment in spliceosome (NES = 2.39), cell-cycle regulation (NES = 2.26), and suppressed Toll-like/NOD-like immune signaling (NES = -2.06). Postnatal exposure disrupted 34 genes and 12 lipids, notably PC(15:0_16:0) and TG(18:1_20:1_20:1), which correlated with synaptic and immune-related genes. Eighteen neonatal DEGs overlapped with human ASD cortical transcriptomes, and integrated analysis revealed shared neurotransmission networks across developmental stages. These findings demonstrate that OPFRs disrupt conserved neurodevelopmental gene networks in a stage-specific manner. The convergence of transcriptomic and lipidomic signals with ASD-relevant features supports further investigation of OPFRs as candidate environmental risk factors and highlights molecular pathways for future biomarker and toxicity studies.

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