1. Correction to: Testing the PEST hypothesis using relevant Rett mutations in MeCP2 E1 and E2 isoforms. Hum Mol Genet;2025 (Jun 4);34(12):1088.

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2. Adams KB, Ramasamy R, Bennett KD, Finnegan L, Kearney KB, Downey A. I CAN-B Money Savvy! Teaching Adults with Intellectual and Developmental Disabilities to Make Purchasing Decisions Online. J Autism Dev Disord;2025 (Jun 4)

Online shopping is a common feature of modern adult life and is made easy with targeted advertisements, a large buy now button, and pre-entered credit card information. However, these features do not support making purchasing decisions based on what is best for the individual. The current study sought to answer this research question: (1) What are the effects of an intervention package-consisting of a mnemonic, task analysis, and BST when delivered remotely-on the acquisition of decision-making skills related to online purchases among adults with IDD? A multiple probe across participants design was conducted with three adults with intellectual and developmental disability to answer the research question. Results of the study indicated a functional relation between the intervention package and the dependent variable. Furthermore, the decision-making skills maintained up to six weeks post intervention and generalized to novel online shopping websites. Participants, parents, and professionals viewed the intervention as socially significant as indicated by survey responses. This intervention package can be a feasible way to teach decision-making related to online shopping.

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3. Brasil CCP, Queiroz F, Gonçalves JL, Brasileiro FNV, Mello TC, Peixoto V, Alegria R, Melo JC. Professionals’ reflections on the use of the Estimule Portal in the development of autistic children. Cien Saude Colet;2025 (May);30(5):e00652025.

The Estimule Portal is a technological tool for healthcare for autistic children, incorporating 97 playful activities with communicative, social and motor skills. The objective was to understand the experiences of using the Estimule Portal from the perspective of health professionals who monitor autistic children in public and private outpatient services, in a capital city in the Brazilian Northeast. Methodological research, with a qualitative approach. The Portal was used by 32 health professionals, who completed an instrument on their socioeconomic profile and the use of technology. The analysis was based on Semiotics. Positive and relevant experiences are reflected, evidencing the increase of technology as a supporting resource for professional practices regarding child development. It also brings negative aspects and needs for improvement. The Estimule Portal emerges as a tool in healthcare for autistic children, if it is conducted by trained health professionals. Its implementation can foster collaboration between multidisciplinary health teams, promoting specialized monitoring.

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4. Cai H, Zhang C, Zhang H, Du Y, Wang K. Deletion of Mex3c gene leads to autistic-like behavior in mice by inhibiting AMPK signal pathway. Front Behav Neurosci;2025;19:1551440.

INTRODUCTION: Autism Spectrum Disorder (ASD) is a hereditary neurodevelopmental condition influenced by genetic alterations, particularly in genes regulating neural development and synaptic plasticity. Emerging evidence suggests that the Mex3c gene plays a role in energy metabolism and neuronal development, indicating its potential relevance to ASD pathogenesis. METHODS: To investigate the role of Mex3c in ASD, we generated Mex3c knockout (KO) mice and conducted a series of behavioral tests, histological analyses, and molecular assays. Behavioral phenotyping included elevated plus maze, open-field test, and three-chamber social interaction test. Histological assessments included Nissl staining, Golgi-Cox staining, and transmission electron microscopy. Molecular evaluations included Western blotting and analysis of the AMPK/SIRT1/PGC1α signaling pathway. RESULTS: Mex3c KO mice exhibited autistic-like behaviors, including social deficits and anxiety-like traits. These behavioral abnormalities were accompanied by reduced neuronal number, decreased dendritic spine density, and impaired synaptic protein expression in the hippocampus. Mitochondrial structural damage and dysfunction were observed, alongside suppression of the AMPK/SIRT1/PGC1α signaling pathway. CONCLUSION: Our findings suggest that Mex3c gene deletion induces ASD-like phenotypes in mice, potentially through disruption of mitochondrial function and synaptic integrity via the AMPK/SIRT1/PGC1? pathway. These results support the candidacy of Mex3c as a susceptibility gene for ASD and highlight mitochondrial signaling pathways as potential therapeutic targets.

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5. Cheng Y, Zhu Y, Wang Y, Huang X, Sun T, Wang F. Parental Migration and the Suspected Developmental Delay of Left-Behind Children in Rural China. Child Care Health Dev;2025 (Jul);51(4):e70108.

BACKGROUND: There are estimated 41.77 million left-behind children (LBC) in rural China, among whom 14.26 million are under the age of 5 years. However, limited research exits on how different parental migration status affects the early development of rural LBC. The purpose of this study is to examine early child development of previous-left-behind children (PLBC), children with single parent migrating (SLBC), children with both parents migrating (BLBC) as compared to never-left-behind children (NLBC). This study also attempts to explore the factors affecting the early development levels of four types of rural children. METHODS: A questionnaire survey was conducted among 1614 child caregivers in Nanling County, Anhui Province. Ages & Stages Questionnaires-Chinese version (ASQ-C) was conducted to measure suspected developmental delay (SDD) of rural children. The parenting knowledge, depressive symptoms and parenting behaviours of caregivers were measured using the Knowledge of Infant Development Inventory-P (KIDI-P), Beck Depression Inventory-II (BDI-II) and Family Care Indicators (FCI). After controlling for the sociodemographic characteristics of children and primary caregivers, binary logistic regression was employed to assess the association between various categories of rural children and early developmental delays. RESULTS: The results showed significant differences in total SDD among the four types of rural children (p < 0.01), and the risk of total SDD in BLBC was 1.78 times that of NLBC [OR = 1.78, 95% CI (1.23-2.60), p < 0.01]. The study showed that caregivers' parenting knowledge [0.54, (0.31-0.93), p < 0.05], parenting behaviour [0.86, (0.80-0.92), p < 0.001] and caregiver depressive symptoms [1.51, (1.14-1.99), p < 0.01] were strongly associated with total SDD. CONCLUSION: In this study, BLBC exhibit the most pronounced early developmental delay. Additionally, PLBC who have experienced being left behind also face disadvantages. The findings provide valuable insights into LBC across various parental migration contexts and contribute to a better understanding of the risk factors of early childhood development. Correspondingly, the study emphasizes that family, society and government should formulate corresponding intervention measures to reduce the risk of early development for rural children.

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6. Erbescu A, Papuc SM, Budișteanu M, Dobre M, Iliescu C, Hinescu ME, Arghir A, Neagu M. Rare Copy Number Variants Intersecting Parkinson’s-associated Genes in a Cohort of children With Autism Spectrum Disorders. Neurosci Insights;2025;20:26331055251334595.

Autism spectrum disorders (ASDs) are neurodevelopmental conditions characterized by important clinical and genetic heterogeneity. Recent studies suggested an overlap between ASD and Parkinson’s disease (PD) in terms of clinical manifestation and underlying genetic defects. Our aim was to assess using a chromosomal microarray assay the frequency of rare exonic deletions that overlap with PD associated genes in a pediatric ASD group. Three hundred and five children diagnosed with ASD were enrolled in a study focused on deep phenotyping and genomic profiling by chromosomal microarrays. In the investigated group, four children with ASD harbored deletions encompassing genes involved in Mendelian forms of PD or contributing to PD risk. Deletions of Parkin RBR E3 ubiquitin protein ligase (PRKN) and synuclein alpha interacting protein (SNCAIP) were found in one patient, each; two other patients showed intragenic deletions of Rab9 effector protein with kelch motifs (RABEPK). Our study found that deletions involving genes associated with PD are rare events, as we identified approximately 1% in the ASD cohort of children. Our data adds to the previous reports of rare genomic imbalances of PD associated genes in ASD, further supporting the hypothesis that these conditions might share molecular mechanisms of pathogenesis.

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7. Feng Y, Ng TYC, Lu D, Chan LML, Li J, Chau PH, Kwok JYY. Raising Autistic Children in Mainland China: A Qualitative Study of Parental Experiences and Challenges. J Autism Dev Disord;2025 (Jun 4)

PURPOSE: Parenting children with autism presents unique challenges globally, particularly in China, where cultural factors and an underdeveloped service system can add complexity. This study aimed to explore the parenting experience and challenges of parents raising an autistic child in mainland China. METHODS: A qualitative descriptive design using individual semi-structured interviews. Using purposive sampling, participants were recruited in mainland China from April to July 2023. Interview data were transcribed verbatim and analyzed using thematic analysis. RESULTS: Twenty-five Chinese parents (nineteen mothers and six fathers) of autistic children were interviewed. Four themes emerged: (1) diminished quality of life due to the caregiving role; (2) fears and worries regarding children’s development; (3) experiences of isolation and loneliness in the caregiving journey; and (4) parental behaviors and their impact on child development. CONCLUSION: The findings suggest that effective support for individuals with autism extends beyond individual-level interventions, necessitating the integration of family care and robust community support systems. Cultivating autism-friendly communities – where understanding, acceptance, and resources are readily available – is crucial for a more inclusive and supportive environment that addresses cultural stigma, empowers caregivers, and ensures access to appropriate services.

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8. Garrido D, Gomez-Perez MM, Petrova D, Arreola M, Catena A, Garcia-Retamero R. Relationship Between Health-Related Behaviors and Family Quality of Life in Children with Autism Spectrum Disorder. J Autism Dev Disord;2025 (Jun 4)

Improving family quality of life (FQoL) of families of children with autism spectrum disorder (ASD) is a key priority in clinical research and practice. Previous studies have suggested that certain health-related behaviors in children with ASD, such as sleep or physical activity, may affect FQoL. However, the relative and independent effects of different health-related behaviors on FQoL remain poorly understood. This study investigated the relationship between sleep, mealtime difficulties, screen time, physical activity, and FQoL in ASD. Parents of 65 children with ASD aged four to thirteen years completed a detailed assessment of their children’s health-related behaviors and FQoL. A multiple regression framework was used to estimate the independent contribution of each health-related behavior to FQoL. Only sleep and mealtime problems were independently associated with lower FQoL, even after controlling for physical activity, screen time, gender, age, traits of ASD, and intelligence, accounting for a 60, and 3% of the variance, respectively. All categories of sleep and mealtime problems were associated with FQoL, with particularly strong correlations for sleep anxiety (r =.71), daytime sleepiness (r =.70), and food refusal (r =.72). In addition to core autistic features, sleep and mealtime behaviors are associated with FQoL in children with ASD. Interventions aimed at improving sleep habits and reducing mealtime difficulties many enhance FQoL in children with ASD.

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9. Gesundheit B, Hochbaum L, Fetyukhina A, Vorobyev V, Vorobyev N. Mesenchymal Stromal Cell Treatment Alleviates Autism Spectrum Disorder Symptoms: A Case Report. Cureus;2025 (May);17(5):e83440.

Autism spectrum disorder (ASD) is associated with significant lifelong challenges for severely affected children and their families. The condition remains poorly understood, and no reliable, effective treatments are available. Presented is a case of a boy with severe ASD, epilepsy, and a pathological electroencephalogram (EEG) who underwent five treatments between the ages of 5.75 years and nine years with mesenchymal stem cells from allogeneic placenta and umbilical cord tissue of unrelated donors. A significant clinical response was observed following each course, including the disappearance of seizures, normalization of the EEG after the first course, and continuously improved ASD symptoms, social skills, and emotional expression. Allogeneic mesenchymal stem cells might offer an attractive innovative modality for some children with ASD and may prove a promising therapy for children with seizure disorders. Clinical research directions are presented to develop these innovative treatments and design future research.

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10. Hagen A, Klein AM, Bögels SM, van Steensel B. Family Functioning in Families of Children with an Anxiety Disorder, with and without Autism Spectrum Disorder. J Autism Dev Disord;2025 (Jun 3)

This study compared family functioning among families of children with anxiety disorders, with and without autism spectrum disorder (ASD), and typically developing children. We evaluated (1) group differences in family functioning, (2) changes in family functioning following child-focused cognitive behavioral therapy for anxiety, and (3) whether pre-treatment family functioning predicted anxiety reduction. Participants were 264 children (aged 7-18 years) and their parents (251 mothers and 172 fathers). Groups consisted of children with anxiety disorders without ASD (n = 95), children with both conditions (n = 79), and typically developing children (n = 90). Children and parents completed the Family Functioning Scale, which assesses relational functioning and system maintenance. As expected, families of children with both anxiety disorders and ASD reported lower relational functioning and higher system maintenance than controls. System maintenance was also higher in these families than in the anxiety-only group (per both parents). Unexpectedly, the anxiety-only group did not differ from the control group. Additionally, cognitive behavioral therapy did not improve family functioning in either clinical group, nor did pre-treatment family functioning predict anxiety reductions. Families of children with both anxiety and ASD showed poorer family functioning than both other groups. Future research should examine whether these challenges stem from their co-occurrence or are specific to ASD.

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11. Hampson CL, Peraza JA, Guerrero LM, Bottenhorn KL, Riedel MC, Almuquin F, Smith DD, Schmarder KM, Crooks KE, Lobo RP, Sutherland MT, Musser ED, Dai Y, Agarwal R, Saeed F, Laird AR. Habenula alterations in resting state functional connectivity among autistic individuals. bioRxiv;2025 (May 14)

BACKGROUND: The reward-based theoretical framework of autism suggests that altered reward circuitry contributes to core symptoms. Recent prior research has revealed autism-related structural alterations in the habenula, a small epithalamic structure associated with motivation and emotion; however, potential alterations in functional connectivity (FC) remain unexplored. METHODS: Anatomical and resting state functional magnetic resonance imaging (rs-fMRI) data were accessed for 1,584 participants (N=705 autism; mean age: 16.26 ± 8.15 years) in the Autism Brain Imaging Data Exchange (ABIDE). To investigate habenula alterations, we conducted a whole-brain resting state FC analysis, followed by regression analyses to explore age and brain-behavior interactions. RESULTS: Across the entire sample, extensive habenula connectivity was observed within the midbrain dopaminergic reward system. Compared to neurotypical (NT) controls, autistic participants exhibited significantly increased habenular connectivity with the right middle temporal gyrus and bilateral superior temporal gyri. From childhood to early adulthood, habenula FC increased in autistic adolescents, and inversely decreased in NTs, with the left culmen and left parahippocampus. Between groups, habenula hyperconnectivity was inversely associated with behavioral scores for social motivation, executive functioning, and daily living skills, but not social communication. CONCLUSIONS: This study provides novel evidence of habenula connectivity alterations in autism, highlighting atypical FC with the auditory cortex. Further findings suggest that habenula circuitry develops differently among autistic adolescents, with links between habenula hyperconnectivity and motivation and adaptive behaviors. Taken together, these results contribute to emerging evidence that the dopaminergic reward system may play a critical role in the pathophysiology of autism.

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12. He C, Cortes JM, Ding Y, Shan X, Zou M, Chen H, Chen H, Wang X, Duan X. Combining functional, structural, and morphological networks for multimodal classification of developing autistic brains. Brain Imaging Behav;2025 (Jun 4)

Accumulating neuroimaging evidence suggests that abnormal functional and structural brain connectivity plays a cardinal role in the pathophysiology of autism spectrum disorder (ASD). Here, we constructed brain networks of functional, structural, and morphological connectivity using data from functional magnetic resonance imaging (fMRI), diffusion tensor imaging (DTI), and structural magnetic resonance imaging (sMRI), respectively. The neuroimaging data from a cohort of 50 individuals with ASD and 47 age-, gender- and handedness-matched TDC (age range: 5-18 years) were selected from the Autism Brain Image Data Exchange database. The combination of the fMRI, sMRI and DTI modalities connectivity features resulted in a classification accuracy of 82.69% for differentiating individuals with ASD from TDC. This accuracy surpassed that of any single modality or combination of fMRI and DTI modalities previously examined. Among the fMRI, sMRI and DTI modalities, the most distinguishing connectivity features were observed in the temporal, parietal, and occipital lobes from the DTI modality, the prefrontal and parietal lobes from the fMRI modality, and the temporal lobe from the sMRI modality. In addition, we also found that these distinguishing connectivity features can predict abnormal social interaction behaviours in ASD. These results highlight the complementary information provided by multimodal approaches, further emphasizing the pivotal role of multimodal connectivity patterns in unravelling the intricate mechanisms involved in the pathophysiology of ASD.

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13. He S, Jing F, Ren H, Xiao Y, Chen XS, Tang R, Qiu Y, Zeng J, Gao T, Huang J. Exploring emotions and perspectives of families with autism spectrum disorder individuals on sports participation: a case study on Weibo using machine learning method. BMC Sports Sci Med Rehabil;2025 (Jun 3);17(1):141.

BACKGROUND: Physical activity is known to have numerous benefits for individuals with autism spectrum disorder (ASD). Understanding family sentiments towards ASD sports participation is crucial for developing interventions that promote physical activity. This study aimed to explore the sentiments of families regarding sports participation for individuals with ASD using longitudinal data from Weibo, a popular Chinese social media platform. OBJECTIVE: This study investigates family sentiments and attitudes toward sports participation by ASD individuals, leveraging longitudinal data from Sina Weibo and machine learning-based sentiment analysis. METHODS: We collected Weibo posts containing the keyword « autism » from January 2020 to April 2023, filtered for sports‑related content, and divided the dataset into ten four‑month intervals. Using SnowNLP’s Naive Bayes-based sentiment classifier, we labeled each post as positive or negative and analyzed temporal trends. RESULTS: Positive sentiments toward sports participation far outnumbered negative sentiments, and the proportion of supportive posts increased steadily over the study period, reflecting growing recognition of sports’ role in enhancing well‑being and development among ASD individuals. CONCLUSION: Families of ASD individuals increasingly acknowledge the multifaceted benefits of physical activity. These insights can guide the design of targeted interventions and inclusive sports programs, ultimately fostering greater participation and improving quality of life within the ASD community.

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14. Hollocks MJ, McQuaid GA, Lee NR, Wallace GL. Cognitive Flexibility Mediates the Associations Between Perceived Stress, Social Camouflaging and Mental Health Challenges in Autistic Adults. Autism Res;2025 (Jun 3)

Autistic people are at an elevated risk of experiencing co-occurring anxiety and depression. The contributors to this are likely multifaceted and complex and remain poorly understood. Cognitive flexibility, social camouflaging, and perceived stress provide useful indices of the interacting neurocognitive, behavioral, and environmental factors that have been associated with anxiety and depression in autistic individuals. Here, we test if cognitive flexibility, as the factor most closely related to individual differences in thinking styles, mediates the relationships between social camouflaging, perceived stress, and anxiety/depression. This study included 806 autistic individuals aged between 18 and 83 years (Mean age = 40.2), recruited through the Research Match service of the Simons Powering Autism Research (SPARK) participant registry. Participants completed an online battery of questionnaires measuring cognitive and social flexibility, social camouflaging, perceived stress, anxiety, and depression. Parallel mediation analyses were used to test the mediating effect of cognitive and social flexibility. Across separate parallel mediation analyses, cognitive flexibility was found to significantly mediate the relationships between both social camouflaging and perceived stress with anxiety and depression. This was contrasted with social flexibility, which showed a lower magnitude mediating effect for perceived stress and no mediating effect of social camouflaging. Cognitive flexibility plays an important mediating role between the impact of both perceived stress and social camouflaging on greater symptoms of both anxiety and depression in autistic adults.

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15. Ji B, Batubara IMS, Batten J, Peng X, Chen S, Ni Z. Digital Health Interventions Targeting Psychological Health in Parents of Children With Autism Spectrum Disorder: Protocol for a Scoping Review. JMIR Res Protoc;2025 (Jun 4);14:e68677.

BACKGROUND: Autism spectrum disorder (ASD) is a complex, incurable condition requiring lifelong care, often placing significant psychological strain on parents and emerging as a public health concern. While various interventions exist to enhance the psychological health of parents, the role of digital health interventions (DHIs) in this context remains underexplored. OBJECTIVE: This scoping review aims to systematically assess the availability of DHIs targeting the psychological health of parents of children with ASD and evaluate the effectiveness of these interventions in improving parental psychological health. METHODS: The review will include English-language studies published from inception to June 25, 2024, focusing on DHIs aimed at improving the psychological health of parents of children with ASD. Eligible studies will involve parents of children with ASD less than the age of 18 years, across various settings, and assess psychological health outcomes. A comprehensive search will be conducted across six databases: (1) CINAHL, (2) Ovid EMBASE, (3) Ovid Global Health, (4) Ovid MEDLINE, (5) Ovid PsycINFO, and (6) Web of Science. Studies will be screened and selected based on predefined eligibility criteria. Data extraction will include publication details, study design, participants’ characteristics, intervention specifics, comparisons, psychological outcomes, and key findings. Results will be synthesized using descriptive statistics, charts, and narrative analysis. RESULTS: The initial keyword-based search, completed in June 2024, identified 5825 records, which were subsequently screened and analyzed. Screening and evidence synthesis were finalized in winter 2024, and the completed scoping review was submitted in December 2024. CONCLUSIONS: This study will provide a comprehensive overview of commonly used DHIs for supporting the psychological health of parents of children with ASD and their effectiveness. The findings will help identify research gaps, inform future studies and funding priorities, and contribute to the development of practice guidelines to enhance parental psychological health. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/68677.

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16. Jin WY, Song C, Wang YY, Liu XL, Li WH, Wu LL, Zhu ZW. Effects of Intelligence Levels and Autistic Severity on Adaptive Functioning and Cognitive-Adaptive Functioning Gaps in School-Aged Children with Autism Spectrum Disorder. Neuropsychiatr Dis Treat;2025;21:1131-1142.

PURPOSE: The aim of our study was to explore the underlying influencing factors of adaptive functioning and cognitive-adaptive functioning gaps in school-aged children with autism spectrum disorder (ASD). PATIENTS AND METHODS: Adaptive functioning of our subjects (n=107) were evaluated via Adaptive Behavior Assessment System (ABAS). Wechsler Intelligence Scale for Children (WISC) and Autism Diagnostic Observation Schedule (ADOS) were applied to assess the intelligence levels and autistic severity of them, respectively. Spearman correlation analyses were applied to investigate the associations between intelligence levels, autistic symptoms and adaptive functioning and cognitive-adaptive functioning gaps. Hierarchical regressions were performed to examine the effects of demographic data, cognitive levels, autistic severity and behavioral factors on General Adaptive Composite (GAC). RESULTS: Verbal Comprehension Index (VCI), Perceptual Reasoning Index (PRI), Working Memory Index (WMI) and Processing Speed Index (PSI) of WISC were positively correlated with Conceptual, Social domains and GAC (P<0.01). There were positive correlations between VCI, PRI and PSI and Practical domain (P<0.01). Positive associations were discovered between full-scale intelligence quotient (FSIQ) and the three domains and GAC in ABAS (P<0.01). Social Affect (SA), Restricted and Repetitive Behavior (RRB) and Total scores of ADOS were negatively correlated with the three domains (P<0.05). Comparison Scores were negatively correlated with Conceptual and Social domains (P<0.05). Negative correlations were found between SA, RRB, Total scores, Comparison Scores and GAC (P<0.05). VCI, PRI, WMI, PSI and FSIQ were positively correlated with FSIQ-Conceptual, FSIQ-Social, FSIQ-Practical and FSIQ-GAC gaps (P<0.01). SA was inversely correlated with FSIQ-Conceptual and FSIQ-Practical gaps (P<0.05). Total scores were inversely correlated with FSIQ-Conceptual, FSIQ-Practical and FSIQ-GAC gaps (P<0.05). Hierarchical regressions showed that FSIQ was positively correlated with GAC in the total model (P=0.015); whereas RRB was inversely correlated with GAC (P=0.014). CONCLUSION: Intelligence levels and autistic severity were important contributors of adaptive functioning and cognitive-adaptive functioning gaps in children with ASD.

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17. Khaleeq H, Malik M, Harpwood V. A systematic review of the treatments of anxiety in children with autism spectrum disorder. Australas Psychiatry;2025 (Jun 4):10398562251346614.

ObjectivesAnxiety symptoms are frequently observed in children with autism spectrum disorder (ASD). While there is substantial research on treatment options for anxiety in typically developing (TD) children, there is a significant gap in understanding the management of anxiety in children with ASD. The aim of this review is to evaluate the evidence base of current research on various treatments for anxiety in children under 18 years of age with ASD, assess the effectiveness of these interventions, and examine the potential adverse effects associated with these treatment options to inform clinical practice and caregiver decisions.MethodsA systematic literature review was conducted using the databases Scopus, PubMed, and MEDLINE. The search employed relevant keywords to identify articles published between 2014 and 2023 (inclusive). The Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were adhered to throughout the review process.ResultsA total of 33 studies met the inclusion criteria for this review. Significant heterogeneity was observed in the methodologies of the included studies, including variations in assessment of anxiety, measures of treatment response, treatment duration, and follow-up periods. Cognitive Behavior Therapy (CBT) emerged as the most evidence-based treatment for managing anxiety in autistic children. Notably, adapted CBT specifically designed for children with ASD demonstrated superior outcomes compared to standard CBT approaches. There is a notable lack of pharmacological studies addressing anxiety in this population.ConclusionFurther research is essential to address the gaps in treatments available for managing anxiety in autistic children. Moreover, the development of sophisticated and customized anxiety measurement scales specifically designed for autistic children would enhance the validity and reliability of future research.

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18. Kreis C, Neininger MP, Vela Martin T, Krause GE, Bertsche T, Bertsche A, Jeschke S. How important is the physician in an era of digitalization and alternative information sources? A survey among parents of children with developmental disorders. Eur J Pediatr;2025 (Jun 4);184(7):391.

A developmental disorder can lead to major issues in daily life of affected families. As physicians’ time is limited, parents often look for alternative sources of information. We aimed at investigating parents’ preferences and judgement regarding different sources of information. At the neuropediatric outpatient department of a university hospital, we conducted interviews with parents of children with a developmental disorder. Altogether, 83 parents took part in the interview. At the time of the interview, 12/83 (14%) of the parents lacked confidence in managing their child’s diagnosis in daily life, of whom 10/12 (83%) had the diagnosis for one year or more. Parents most frequently received information about the diagnosis from the physician (48/83; 58%), from the internet (22/83; 27%), or from the early intervention center (6/83; 7%). They judged the physician (32/83; 39%), the early intervention center (16/83; 19%) and the internet (12/83; 14%) as most helpful for handling their child’s diagnosis. CONCLUSION: The physician is still the most important source of information for parents of children with a developmental disorder. The internet and early intervention centers are also crucial for parents to gain information about the condition and handling it in daily life. WHAT IS KNOWN: • Developmental disorders can have a major impact on the life of affected families. • Parents can be supported in accepting the condition by various players of the healthcare system. WHAT IS NEW: • For parents, the physician plays a crucial role in dealing with the condition in daily life. • Some parents consult the internet and early intervention centers more often than the physician.

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19. Leguay K, Acevedo M, Colic E, Patel PU, Shamsi S, Chan HL, Sun S, Lang-Ouellette D, Chan B, Zhan X, Turner RW, Mancini J, Kent OA. Interactome of FMRP-N-tat therapeutic unveils key interactions for cellular function in Fragile X neurons. J Biol Chem;2025 (Jun 4):110341.

Therapeutic protein replacement has demonstrated pre-clinical and clinical efficacy in neurological disorders but has not been used clinically for Fragile X syndrome (FXS), a genetic neurodevelopmental disorder caused by loss of Fragile X messenger ribonucleoprotein (FMRP). FXS results from a triplet repeat expansion of over 200 CGG repeats in the 5′-UTR of the FMR1 gene leading to epigenetic silencing of FMRP. Currently, no clinically approved disease-modifying treatments for FXS exist. Recently, a tat-conjugated FMRP fragment encompassing residues 1-297 (FMRP N-tat) was shown to restore aspects of neuronal function in a mouse model of FXS. Promising in vivo data hinted to the therapeutic potential of FMRP N-tat. Herein, affinity purification mass spectrometry was used to identify the FMRP N-tat interactome in tsA-201 FMR1 knockout cells and FXS patient iPSC-derived neurons. The FMRP N-tat interactome included RNA binding proteins and constituents of the ribosome, which aligned closely with the known functions of FMRP. Further, the FMRP N-tat associated proteins included FXR2, STAU1, TRIM28, C1QBP, VDAC2, and several ribosomal proteins to regulate mRNA stability, cellular stress responses, mitochondrial function, and translation. The results highlight the potential of FMRP N-tat to orchestrate assembly of factors to correct lost function in FMRP deficient cells.

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20. Li R, Ernst J. Identifying associations of de novo noncoding variants with autism through integration of gene expression, sequence, and sex information. Genome Biol;2025 (Jun 4);26(1):156.

BACKGROUND: Whole-genome sequencing (WGS) data has facilitated genome-wide identification of rare noncoding variants. However, elucidating these variants’ associations with complex diseases remains challenging. A previous study utilized a deep-learning-based framework and reported a significant brain-related association signal of autism spectrum disorder (ASD) detected from de novo noncoding variants in the Simons Simplex Collection (SSC) WGS cohort. RESULTS: We revisit the reported significant brain-related ASD association signal attributed to deep-learning and show that local GC content can capture similar association signals. We further show that the association signal appears driven by variants from male proband-female sibling pairs that are upstream of assigned genes. We then develop Expression Neighborhood Sequence Association Study (ENSAS), which utilizes gene expression correlations and sequence information, to more systematically identify phenotype-associated variant sets. Applying ENSAS to the same set of de novo variants, we identify gene expression-based neighborhoods showing significant ASD association signal, enriched for synapse-related gene ontology terms. For these top neighborhoods, we also identify chromatin state annotations of variants that are predictive of the proband-sibling local GC content differences. CONCLUSIONS: Overall, our work simplifies a previously reported ASD signal and provides new insights into associations of noncoding de novo mutations in ASD. We also present a new analytical framework for understanding disease impact of de novo mutations, applicable to other phenotypes.

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21. Li Z, Wang B, Yang L, Niu Y, Luo Q, Zhao S. Structure-function connectomics reveals aberrant left hemispheric developmental trajectory in autism spectrum disorder. Cereb Cortex;2025 (Jun 4);35(6)

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by structural and functional brain differences relative to typically developing individuals. Although previous work has identified abnormalities in rich-club (RC) organization and left-right asymmetry in ASD, the developmental trajectory of these anomalies remains unclear. In this study, we examined how age influences structure-function coupling and structural proportions in RC networks using data from 140 participants (aged 5-26 years) drawn from ABIDE II. Our findings revealed significant, age-related differences in the left hemisphere of ASD participants compared to controls, with the RC network predominantly localized in this region. Furthermore, an interaction effect in local RC organization-though not in global RC or feeder connections-was observed between diagnostic groups and brain lateralization. Notably, rightward lateralization in local RC networks increased with age in ASD individuals, whereas it decreased with age in controls. These results underscore an atypical, age-dependent pattern of hemispheric asymmetry in ASD and offer new insights into abnormal neurodevelopmental trajectories within RC organization.

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22. Liang DC, Yum YN. Music Education for Autistic Children with Intellectual Disability: Parental Attitudes and Support. J Autism Dev Disord;2025 (Jun 4)

This study aimed to investigate differences in parental attitudes toward music and support for music education between typically developing children and autistic children with mild or borderline intellectual disability (ID) in Hong Kong. While research highlights the developmental benefits of music for autistic children with ID, few studies explore formal music training in this population, particularly within the context of cultural influences. The study included 148 participants, consisting of 84 parents of typically developing children and 64 parents of autistic children with ID. A questionnaire was used to assess parental attitudes toward music and their decisions regarding formal music training enrollment for their children. Covariates such as family income, child executive function, and parental expectations were analyzed to identify potential predictors. Parents of autistic children with ID held more positive attitudes toward music compared to parents of typically developing children when controlling for covariates. However, only 14.1% of autistic children with ID were enrolled in formal music training, in contrast to 40.4% of typically developing children. Family income and child executive function emerged as significant barriers to enrollment decisions. The findings highlight a disparity between positive parental attitudes toward music and pursuit of music education among autistic children with ID, highlighting systemic and financial barriers. Accessible music programs, adjustments in parental expectations, and inclusive policies may bridge the gap between parental attitudes and actual support. These insights call for targeted interventions to ensure that autistic children with ID can access the developmental benefits of music education.

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23. Marín Soro M, Gisbert Gustemps L, Boix Alonso H, Martínez-Maldonado S, Coronado Contreras R. Prenatal, Perinatal, and Postnatal Factors in a Cohort of Very Preterm and Very Low Birth Weight Toddlers with Suspected Autism Spectrum Disorder. J Autism Dev Disord;2025 (Jun 4)

There is growing interest in the identification of prenatal, perinatal, and postnatal factors that correlate with autism spectrum disorders (ASD) and these have been extensively studied in the general population. This study aimed to investigate the relationship between these factors and the elevated likelihood of being diagnosed with ASD in the very preterm and very low birth weight population. Conducted as a prospective longitudinal study, this research monitored 133 neonates born very preterm (less than 32 weeks of gestation) or weighing less than 1,500 g at birth from birth until 2 years of age. Having a mother born abroad, low gestational age, bronchopulmonary dysplasia, hearing loss, longer NICU stay and low Apgar score of 10 min were associated with an increase in suspected ASD. Conversely, cesarean delivery, and full-dose corticosteroid maturation were associated with a lower incidence of ASD. Some factors associated with ASD in the very preterm population may differ from those found in the general population. Large-scale studies with longitudinal datasets are warranted.

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24. McNaughton D, Rackensperger T, McLemore L. Supporting meaningful participation in society by adults with developmental disabilities who need and use AAC: lived experiences, key research findings, and future directions. Augment Altern Commun;2025 (Jun 4):1-14.

Expanded opportunities for meaningful participation in society now exist for adults with developmental disabilities who need or use AAC, yet significant barriers to full community participation still remain. In this paper, we discuss both personal narratives by AAC users as well as current AAC research in four key domains of adult life: having a safe place to live, participating in meaningful activities, accessing needed services, and developing friendships and meaningful relationships. To support communication and participation in these key areas more effectively, AAC research and development must: (a) strengthen the expression of personal identity; (b) support integrated use of multimodal communication; and (c) reduce the demands of communicative interaction while supporting language and literacy development. Future AAC research and development must be guided by equitable partnerships between AAC users, researchers, and technology developers, and must be driven by the key priorities of people who need and use AAC.

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25. Molinari F, Fusco R, Siracusa R, D’Amico R, Impellizzeri D, Abdelhameed AS, Fritsch T, Jacob UM, Cuzzocrea S, Calabrese V, Paola RD, Cordaro M. ⁠⁠Functional Foods Alleviate Behavioral Alterations and Improve GABAergic System Regulating TLR-4/NF-κB Axis in Valproic-Induced Autism. Brain Behav;2025 (Jun);15(6):e70591.

SCOPE: Valproic acid (VPA) postnatal exposure in mice results in behavioral impairment, aberrant sensitivity to sensory stimuli, and self-harming behavior, hallmarks of autism. According to previous reports, Coriolus versicolor (CV) has a protective effect on the brain. The goal of the current investigation was to assess how CV affected the neurobehavioral and metabolic changes caused by VPA in mice. METHODS AND RESULTS: Mice pups were injected with VPA at 14 days of age and orally administered CV at a dose of 200 mg/kg daily from 14 to 40 days of age. Mice pups were placed through behavioral tests during the trial to evaluate motor skill growth, nociceptive response, locomotion, anxiety, and cognition. Following behavioral testing, mice were killed, and the brain was removed and subjected to biochemical analyses (glutathione, malondialdehyde, and nitric oxide) and histopathological analysis. Additionally, to further investigate the role of the TLR-4/Myd88/NF-κB signaling pathway, we examined the modulation of this pathway and the alteration in gamma-amino butyric acid (GABA) production using Western blot analysis. CONCLUSION: According to our research, CV daily administration greatly reduced behavioral alteration, reversed the disorganization of the cerebellum and hippocampus, and significantly improved the VPA-induced neuroinflammation via the TLR-4/Myd88/NF-κB signaling cascade.

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26. Noel JP, Balzani E, Acerbi L, Benson J, Savin C, Angelaki DE. A common computational and neural anomaly across mouse models of autism. Nat Neurosci;2025 (Jun 3)

Computational psychiatry studies suggest that individuals with autism spectrum disorder (ASD) inflexibly update their expectations. Here we leveraged high-yield rodent psychophysics, extensive behavioral modeling and brain-wide single-cell extracellular recordings to assess whether mice with different genetic perturbations associated with ASD show this same computational anomaly, and if so, what neurophysiological features are shared across genotypes. Mice harboring mutations in Fmr1, Cntnap2 or Shank3B show a blunted update of priors during decision-making. Compared with mice that flexibly updated their priors, inflexible updating of priors was associated with a shift in the weighting of prior encoding from sensory to frontal cortices. Furthermore, frontal areas in mouse models of ASD showed more units encoding deviations from the animals’ long-run prior, and sensory responses did not differentiate between expected and unexpected observations. These findings suggest that distinct genetic instantiations of ASD may yield common neurophysiological and behavioral phenotypes.

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27. Pecci-Terroba C, Lai MC, Lombardo MV, Chakrabarti B, Ruigrok ANV, Suckling J, Anagnostou E, Lerch JP, Taylor MJ, Nicolson R, Georgiades S, Crosbie J, Schachar R, Kelley E, Jones J, Arnold PD, Seidlitz J, Alexander-Bloch AF, Bullmore ET, Baron-Cohen S, Bedford SA, Bethlehem RAI. Subgrouping autism and ADHD based on structural MRI population modelling centiles. Mol Autism;2025 (Jun 4);16(1):33.

BACKGROUND: Autism and attention deficit hyperactivity disorder (ADHD) are two highly heterogeneous neurodevelopmental conditions with variable underlying neurobiology. Imaging studies have yielded varied results, and it is now clear that there is unlikely to be one characteristic neuroanatomical profile of either condition. Parsing this heterogeneity could allow us to identify more homogeneous subgroups, either within or across conditions, which may be more clinically informative. This has been a pivotal goal for neurodevelopmental research using both clinical and neuroanatomical features, though results thus far have again been inconsistent with regards to the number and characteristics of subgroups. METHODS: Here, we use population modelling to cluster a multi-site dataset based on global and regional centile scores of cortical thickness, surface area and grey matter volume. We use HYDRA, a novel semi-supervised machine learning algorithm which clusters based on differences to controls and compare its performance to a traditional clustering approach. RESULTS: We identified distinct subgroups within autism and ADHD, as well as across diagnosis, often with opposite neuroanatomical alterations relatively to controls. These subgroups were characterised by different combinations of increased or decreased patterns of morphometrics. We did not find significant clinical differences across subgroups. LIMITATIONS: Crucially, however, the number of subgroups and their membership differed vastly depending on chosen features and the algorithm used, highlighting the impact and importance of careful method selection. CONCLUSIONS: We highlight the importance of examining heterogeneity in autism and ADHD and demonstrate that population modelling is a useful tool to study subgrouping in autism and ADHD. We identified subgroups with distinct patterns of alterations relative to controls but note that these results rely heavily on the algorithm used and encourage detailed reporting of methods and features used in future studies.

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28. Potter SN, Harvey D, Sterling A, Abbeduto L. The influence of parent and couple characteristics on parental responsivity during parent-child interactions in families of children with fragile X syndrome. Res Dev Disabil;2025 (Jun 4);164:105044.

BACKGROUND: Parents of children with fragile X syndrome (FXS) experience elevated levels of parenting stress due to the challenges associated with raising a child with significant disabilities. Biological mothers of children with FXS are at an increased genetic risk for experiencing mental health challenges. Parental mental health challenges and stress are often associated with reduced marital cohesion and satisfaction, which may spill over and negatively affect the parent-child relationship for both mothers and fathers. AIM: The current study examined relationships among characteristics of parents, characteristics of couples, and parent behavior (i.e., responsivity and behavior management) during mother-child and father-child dyadic interactions in 23 families of young boys with FXS. RESULTS: We found that mothers and fathers used similar rates of responsive behaviors, but that fathers used higher rates of behavior management strategies compared to mothers. Parenting stress predicted lower rates of parental responsivity and higher rates of behavior management, but these effects were only marginally significant. Couples satisfaction was not found to contribute to either parental responsivity or behavior management, despite the significant relationship between parenting stress and couples satisfaction. CONCLUSION: Overall, this study suggests that reducing parenting stress may lead to more responsive parent-child interactions, and equally so for both mothers and fathers.

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29. Reuben KE, Arias JJ, Self-Brown S, Vinoski Thomas E. Inclusion of Individuals with Autism and Co-Occurring Intellectual Disability or Language Impairment as Research Participants. J Autism Dev Disord;2025 (Jun 4)

Autistic individuals with higher support needs, including those with co-occurring intellectual disability (ID) and language impairment (LI), are underrepresented in research. Researchers who attempt to include this population face unique challenges regarding participant recruitment, informed consent, accurate measurement, and protecting privacy and confidentiality. This leads to gaps in understanding as well as a lack of evidence-based support for clinical and public health practice. Careful consideration is needed to ensure that autism research is appropriately inclusive and does not unduly burden vulnerable populations. This commentary uses the Kass framework as an example scaffold for navigating complex ethical challenges and improving accessibility and fairness in autism research. It reviews existing literature on the topic, and the resulting recommendations are informed by autistic individuals with substantial support needs. Increased representation of the full autism spectrum in research is necessary to ensure equitable health outcomes for all autistic individuals. Ethical analysis, guidance from autism research organizations, and recommendations from autistic adults can assist with this process.

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30. Schwartzman JM, Kujawa A, Jeste SS, Corbett BA, Xu W, Monachino AD, Castro MA, Cardenas-Quintero K, Dao A, Durazo-Arvizu R, Morales S. Study protocol for a multimethod investigation of the development of social and nonsocial reward responsivity and depression in autistic adolescents: Reward and Depression in Autism (RDA). BMC Psychol;2025 (Jun 4);13(1):603.

BACKGROUND: Autistic adolescents are more likely to experience depression than their non-autistic peers, yet risk factors for depression in autistic adolescents are not well understood. Better mechanistic knowledge of depression in autistic adolescents is critical to understanding higher prevalence rates and developing targeted interventions. Altered reward responsiveness and social processes, as assessed by clinical and neural measures [i.e., electroencephalography (EEG)], are important risk factors for depression in non-autistic adolescents that remain largely unexplored in autistic adolescents, even though autistic people have higher rates of depression, exhibit reward differences, and often experience difficulties in social interactions. Therefore, a multimethod investigation of social and nonsocial reward responsivity and their associations with depression symptoms in autistic adolescents, particularly over time, is needed. METHODS: The current project will employ clinical and neural measures (i.e., interviews, EEG tasks) of social and nonsocial reward responsivity and depression to test associations between these constructs in autistic adolescents for the first time. A clinical sample of 100 autistic adolescents (14-17 years old) without intellectual disability and with varying severity of depression symptoms (at least 50% with current depression) will be recruited. Clinical and neural measures will be administered at two timepoints one year apart. Planned analyses will test cross-sectional and longitudinal relations between clinical and neural measures of reward responsivity and depression symptoms. DISCUSSION: This systematic study of reward responsivity and depression in autistic adolescents is likely to advance our collective understanding of depression in this population by informing risk stratification models and identifying potential intervention targets. Findings may also establish the reliability of several clinical and neural measures of reward responsivity in this population that can eventually be used to measure treatment outcome and identify predictors of treatment response.

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31. Stanfield AC, McKechanie AG. Behavioural difficulties in fragile X syndrome: current pharmacological options and potential future developments. Expert Rev Neurother;2025 (Jun 5):1-11.

INTRODUCTION: Fragile X Syndrome (FXS) is the most frequent inherited form of intellectual disability and a common cause of autism spectrum disorders and other neurodevelopmental conditions. It is commonly associated with hyperarousal, anxiety, and behavioral difficulties such as agitation, self-injurious behavior, and aggression. AREAS COVERED: This narrative review covers the physical, cognitive, and behavioral phenotype associated with FXS and the evidence for pharmacological interventions for behavioral difficulties, including those prescribed on the basis of symptoms and those aimed at the pathophysiological mechanisms of FXS (‘targeted’ interventions). Consideration is then given to the evidence for novel targeted treatments currently in later stages of clinical development. EXPERT OPINION: The first-line management of behavioral difficulties are non-pharmacological interventions, and there are only a few studies in FXS to guide pharmacological approaches. Identification and management of anxiety and ADHD, which contribute to behavioral difficulties, are important steps before considering antipsychotic treatment for agitation, aggression, or self-injurious behavior. The evidence for repurposed targeted treatments remains based on small RCTs or open-label studies; therapeutic trials of these interventions therefore need close monitoring. Multiple novel medications are in clinical development; genetic therapies remain preclinical but are likely to be important in the coming years.

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32. Tusa BS, Alati R, Ayano G, Betts K, Weldesenbet AB, Dachew B. Maternal pre- and perinatal depression and the risk of autism spectrum disorders in offspring: systematic review and meta-analysis. BJPsych Open;2025 (Jun 4);11(4):e117.

BACKGROUND: Studies have reported conflicting findings on the association between maternal pre- and perinatal depression and autism spectrum disorder (ASD) in offspring. AIMS: To examine and consolidate the existing evidence on the association between maternal pre- and perinatal depression and the risk of ASD in children and adolescents. METHOD: In this systematic review and meta-analysis, we searched PubMed, Medline, EMBASE, Scopus, CINAHL and PsycINFO from the database inception to 21 February 2024. A meta-analysis was performed using random-effect models, and summary effect estimates were presented as odds ratios with 95% confidence intervals. Heterogeneity was assessed with Cochran’s Q and the I(2)-statistic test. Additionally, subgroup analysis was conducted to identify the source of potential heterogeneity within the included studies. A funnel plot and Egger’s regression test were employed to evaluate publication bias. RESULTS: Twelve studies involving over 1.6 million mother-offspring pairs were included in the final analysis. A random-effects meta-analysis of these studies revealed a 52% increased risk (odds ratio 1.52, 95% CI 1.13-1.90) of ASD in the offspring of mothers experiencing pre-pregnancy depression, a 48% increased risk (odds ratio 1.48, 95% CI 1.32-1.64) in those experiencing antenatal depression and a 70% increased risk (odds ratio 1.70, 95% CI 1.41-1.99) in those with postnatal depression. CONCLUSIONS: This systematic review and meta-analysis found that offspring born to mothers with depression before, during and after birth have a higher risk of developing ASD. Our findings underscore the need for early screening and targeted intervention programmes for at-risk children.

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33. Uncu B, Gokcek AI, Aras N. Caring for A Child with Autism Spectrum Disorder: A Metaphor Study. Matern Child Health J;2025 (Jun 4)

OBJECTIVE: It aims to explore the language used by women about their experiences of caring for their child with autism spectrum disorder through metaphor, and to provide a valuable source of insight for midwives and other clinicians. METHODOLOGY: The study was a prospective qualitative study with a phenomenological approach based on semi-structured, individual and in-depth interviews and observations of the participants. Data saturation was achieved after 11 participants were interviewed. Data were collected in a private clinic between January and May 2024. RESULTS: This metaphor analysis revealed ten metaphors that mothers used to describe their experience of caring for their child with an autistic spectrum disorder. These metaphors were described as a treasure, a maze, a boat trip, a tangled knot, a newly discovered planet, a late bearing tree, a mountaintop, a new day, an alien and a newly sprouted flower. CONCLUSIONS: In conclusion, paying attention to the metaphors that women with children on the autistic spectrum use to describe their caring situation can provide midwives and other clinicians with rich insights into understanding women.

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34. Vanoncini M, Cattaneo M, Falcone G, Fioravanti M, Leonardis G, Zampini L, Salomone E. Setting the Stage for an App-Based Caregiver-Mediated Intervention for Autism: Findings from A Stakeholder Consultation. J Autism Dev Disord;2025 (Jun 4)

PURPOSE: The use of mobile technology to support clinical practice (mHealth) has the potential to support access to caregiver-mediated interventions for autistic children, improving accessibility, scalability, and cost-effectiveness. However, rarely stakeholders’ perspectives have been integrated in the development of mHealth tools. This study aims to investigate stakeholders’ needs, attitudes, and expectations regarding a to-be-developed mHealth caregiver-mediated intervention based on the WHO Caregiver Skills Training program. METHODS: We conducted focus groups and interviews with 13 caregivers and 14 clinicians. RESULTS: Thematic analysis identified four main themes: « Usage scenarios », « Purposes », « Threats to app success », and « Strategies for app success ». Stakeholders emphasized the need for an app that could support caregivers at different stages and roles, regardless of previous exposure to in-person CST. Stakeholders expected an app that could integrate psychoeducation, support home practice, and promote psychological wellbeing. Perceived threats to the app’s effectiveness pertained to the self-directed delivery, in absence of a therapist; while strategies proposed to counter such threats included incorporating engaging content, gamification and customization features, and overall ease of use of the app. CONCLUSION: Findings are discussed in relation to the development of a prototype based on caregivers’ needs and recommendations from expert clinicians. Future directions involve conducting formal usability testing of the initial prototype and evaluating the app’s acceptability and effectiveness.

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35. Vermudez SAD, Freitas GA, Smith M, Gogliotti R, Niswender CM. Profiling metabotropic glutamate receptor 7 expression in Rett syndrome: consequences for pharmacotherapy. bioRxiv;2025 (May 12)

We have reported that levels of metabotropic glutamate receptor 7 (mGlu (7) ) are dramatically decreased in brain samples from Rett syndrome patients carrying truncation mutations in the Methyl-CpG Binding Protein 2 ( MECP2 ) gene. Additionally, we identified decreases in mGlu (7) levels in Mecp2 (+/-) female mice and demonstrated that administration of a positive allosteric modulator (PAM) with activity at mGlu (7) corrected deficits in cognitive, social, and respiratory domains. Here, we expanded our studies to a larger cohort of RTT samples covering a range of mutations and evaluated expression of the three widely expressed group III mGlu receptors (mGlu (4,7) (and) (8) ). We found significant decreases in mGlu (7) , but not mGlu (4) or mGlu (8) , mRNA expression across this larger cohort; additionally, we identified a previously unknown and robust correlation in the expression of mGlu (4) and mGlu (8) in control individuals. Stratification of RTT patients into individuals with mutations that are clinically correlated with severe versus mild disease revealed statistically significant decreases in mGlu (7) expression only in patients with mutations that induce more severe symptoms. We then administered the PAM VU0422288 to mice modeling the mild R306C mutation ( Mecp2 (R306C/+) ) and found a significant reduction in apneas induced by VU0422888 administration despite no decreases in mGlu (7) expression in the brainstem or cortex. These results provide the first evidence of potentially broad utility for mGlu (7) PAMs in reducing apneas in RTT patients.

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36. Vlasits AL, Syeda M, Wickman A, Laskey E, Guzman P, Schmidt TM. Atypical retinal ganglion cell function in a mouse model of Fragile X syndrome. J Neurosci;2025 (Jun 4)

Altered function of peripheral sensory neurons is an emerging mechanism for symptoms of autism spectrum disorders. Visual sensitivities are common in autism, but whether differences in the retina might underlie these sensitivities is not well understood. This includes Fragile X syndrome, which is the most common syndromic cause of autism. We explored retinal function in the Fmr1 knockout mouse model of Fragile X syndrome. We focused on a specific type of retinal neuron homologous with primate ganglion cells, the « sustained On alpha » retinal ganglion cell, which plays roles in contrast sensing and binocular vision in mice. We found that these cells exhibit changes in dendritic structure and dampened responses to light in male Fmr1 knockout mice. We show that decreased light sensitivity is due to increased inhibitory input and reduced E-I balance. The change in E-I balance supports maintenance of circuit excitability similar to what has been observed in cortex. However, this maintenance also reshapes the tuning of this retinal ganglion cell type. These results show that loss of Fmr1 in the mouse retina affects sensory function of one retinal neuron type. As other retinal cell types also express Fmr1, Fragile X syndrome may affect the tuning of retinal cells more broadly. Our findings suggest that the retina may be relevant for understanding visual function in Fragile X syndrome.Significance statement Atypical sensory processing underlies some symptoms and experiences of people with autism spectrum disorders. These symptoms may include differences in vision, audition and sense of touch. In recent years, evidence has emerged that these differences start with atypical function of neurons in the periphery. However, not much is known about how ASD affects the function of the retina. Here, we explored retinal function in a mouse model of a disease strongly linked to ASD, Fragile X syndrome. Our experiments demonstrate that a cell type in the retina has dampened responses to light in the mouse model of Fragile X syndrome. Our work suggests that atypical processing in the retina may contribute to sensory symptoms in Fragile X syndrome.

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37. Walsh Ó, Linehan C, Ryan C. Social Skills Through an Autistic Lens: A Qualitative Analysis of Young Adults’ Insights and Experiences. J Autism Dev Disord;2025 (Jun 4)

Navigating social interactions and developing effective communication strategies can pose unique hurdles for autistic people, impacting their overall well-being. This article presents a qualitative study of autistic young adults’ understanding of social skills. Social skills programs are also be explored. The primary researcher conducted five semi-structured focus groups with 18 participants in total, aged 18-30 (11 men, 7 women). Our analysis adopts a qualitative approach, utilising thematic analyses. Through inductive thematic analysis we identified four key themes: (1) Social divide between neurotypes, (2) Conscious efforts in social interaction, (3) Adverse social experiences, and (4) Balancing authenticity and social adaptation in social skills programs. Participants emphasised the importance of choice and an individualised approach regarding support. While expressing a desire to develop various social skills, many participants embraced their identity and desired to improve self-advocacy. There is a need for tailored and individualised approaches in social skills programs, acknowledging the diverse experiences of autistic people. Additionally, choice and autonomy are important, aligning with the desire for self-advocacy.

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38. Yang Q, Hu J, Liu Z, Qiang Q, Zhang Y, Li Q. Automatic Speech-Gesture Integration in Autistic Children: The Role of Gesture Semantic Activation. J Autism Dev Disord;2025 (Jun 4)

This study investigates whether autistic children exhibit differences in automatic gesture-speech integration (GSI) through an implicit measurement approach and clarifies the potential role of gesture semantic activation in this process. Twenty-one autistic children and 21 age-, verbal-intelligencer-, and nonverbal-intelligencer-matched neurotypical (NT) children participated in the study. (1) A semantic irrelevant task to assess whether autistic children can automatically integrate gestures and speech without requiring semantic processing; (2) a gesture semantic task to examine the impact of active gesture semantic activation on GSI. The experiment incorporated eye-tracking technology to measure reaction times (RTs) and total fixation duration (TFD) on gestures. In Experiment 1, neither RTs nor TFD on gestures in autistic children showed sensitivity to semantic congruence, contrasting with NT children’s semantic congruence effects. Nevertheless, autistic children demonstrated markedly reduced TFD on gestures relative to their NT peers. In Experiment 2, autistic children demonstrated semantic congruence effects similar to those of NT children in TFD on gestures, whereas in RTs, such effects were restricted to the gesture-picture congruent condition. This study indicates that autistic children exhibit atypical automatic GSI; however, these differences are attributable to insufficient bottom-up semantic activation rather than inherent deficits in integration abilities. This study offers novel insights into cross-modal semantic processing mechanisms and promotes the development of neurodiversity-based adaptive language intervention strategies.

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