1. Akhtayeva N, Kosherbayeva L, Imamatdinova A, Šmigelskas K. Wellbeing of parents raising children with autism spectrum disorder and the role of psychologists. Arch Med Sci. 2025; 21(3): 858-67.

INTRODUCTION: Recent research has shown a rise in the prevalence of autism spectrum disorder (ASD) worldwide. At the same time, care for ASD children was found to affect the psychological health of parents or guardians of ASD children. The aim of the study was to identify the wellbeing of parents raising ASD children and to explore the experiences of primary health care (PHC) psychologists in providing support to them. MATERIAL AND METHODS: We conducted a cross-sectional study. Parents of ASD children took part in the survey. Wellbeing was assessed using the Parental Well-Being Scale including physical and emotional health, stress, social support, and quality of life. Ten primary care psychologists were also interviewed. RESULTS: Three hundred and twenty-seven parents of ASD children participated in our study. The mean wellbeing score for all parents was 52.6 ±15.65 points. The highest scoring aspects of wellbeing were enjoyment in looking after the child (mean 7.29 points) and quality of life (mean 6.87 points). The strongest predictor of parental wellbeing was presence of a disability diagnosis for the ASD child (6.33 points), with lower parental wellbeing (β = 0.20, p < 0.001). The interview results show the insufficient competence of psychologists to work with parents of children with ASD. CONCLUSIONS: On the Parental Well-Being Scale, the highest scores were observed for enjoyment in looking after the child and quality of life. Insufficient work is carried out by PHC psychologists with parents of children with ASD. There is a need for future training of psychologists in the management of children with ASD and their parents.

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2. Arvidsson O, Brikell I, Larsson H, Lichtenstein P, Kuja-Halkola R, Johnson M, Gillberg C, Lundström S. Corrigendum to « ASD and ADHD symptoms in 18-year-olds – A population-based study of twins born 1993 to 2001 ». Psychiatry Res. 2025: 116656.

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3. Burke MM, Terol K, Best M, Cheung CW, Hardy A. Improving the cultural responsiveness of measures for Latino families of children with autism. J Dev Phys Disabil. 2025; 37(2): 321-45.

PURPOSE: Increasingly, interventions are being developed and tested with families of color, including Latino families of transition-aged youth with autism. However, without culturally responsive measures, it is difficult to determine whether an intervention is effective. The purpose of this study was to improve the cultural responsiveness of measures related to: knowledge of adult disability services, advocacy, and family empowerment. METHODS: Altogether, 30 Latinx parents of youth with autism participated in this study. Participants completed surveys and interviews to inform changes to the measures. RESULTS: Changes were made in relation to: wording, format, and concepts. The revised measures were demonstrated to have high reliability. CONCLUSION: Implications for future research and practice are discussed.

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4. Chen C, Guo S, Shi Y, Gu X, Xu Z, Chen Y, Gu Y, Qin N, Jiang Y, Dai J, He Y, Han X, Liu Y, Hu Z, Ke X, Wang C. Massively parallel characterization of non-coding de novo mutations in autism spectrum disorder. J Genet Genomics. 2025.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder where de novo mutations play a significant role. Although coding mutations in ASD have been extensively characterized, the impact of non-coding de novo mutations (ncDNMs) remains less understood. Here, we integrate cortex cell-specific cis-regulatory element annotations, a deep learning-based variant prediction model, and massively parallel reporter assays to systematically evaluate the functional impact of 227,878 ncDNMs from Simons Simplex Collection (SSC) and Autism Speaks MSSNG resource (MSSNG) cohorts. Our analysis identifies 238 ncDNMs with confirmed functional regulatory effects, including 137 down-regulated regulatory mutations (DrMuts) and 101 up-regulated regulatory mutations (UrMuts). Subsequent association analyses reveal that only DrMuts regulating loss-of-function (LoF) intolerant genes rather than other ncDNMs are significantly associated with the risk of ASD (Odds ratio = 4.34; P = 0.001). A total of 42 potential ASD-risk DrMuts across 41 candidate ASD-susceptibility genes are identified, including 12 recognized and 29 unreported genes. Interestingly, these noncoding disruptive mutations tend to be observed in genes extremely intolerant to LoF mutations. Our study introduces an optimized approach for elucidating the functional roles of ncDNMs, thereby expanding the spectrum of pathogenic variants and deepening our understanding of the complex molecular mechanisms underlying ASD.

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5. Chen Z, Xu X, Tian J. Mental Health Status of Caregivers of Children with ASD in Mainland China: The Impact of Stigma and Social Support in the Post-COVID-19 Era. J Autism Dev Disord. 2025.

Caregivers of children with Autism Spectrum Disorder (ASD) often face significant psychological distress due to stigma, which impacts their mental health and life satisfaction. However, the specific effects of courtesy stigma, vicarious stigma, and affiliate stigma, along with the role of social support, remain underexplored. This study aims to examine the relationships among different types of stigma, social support, mental health (anxiety and depression), and life satisfaction among caregivers in mainland China. A cross-sectional survey was conducted among 123 caregivers of children with ASD from two cities in mainland China. Participants completed validated scales assessing stigma perception, social support, anxiety, depression, and life satisfaction. Correlation analysis, multiple regression analysis, and Bootstrap mediation analysis were employed to test the hypothesized relationships. All three types of stigma were positively associated with anxiety and depression, and negatively associated with life satisfaction. Social support significantly buffered the adverse effects of stigma and partially mediated the relationship between stigma and caregivers’ well-being. Moreover, social support played a protective role in mitigating the psychological distress caused by stigma, though it could not eliminate its adverse effects. These findings highlight the pressing need for more effective social support systems, increased public awareness, and early interventions to reduce stigma-related distress. Enhancing support for caregivers of children with ASD is essential for improving their mental health and overall life satisfaction.

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6. Cusson NM, Meilleur AJ, Bernhardt BC, Soulières I, Mottron L. A systematic review and meta-analysis of empathy in autism: The influence of measures. Clin Psychol Rev. 2025; 120: 102623.

Empathy deficits are considered a core attribute of autism and are scored in standardized autism diagnostic instruments. However, empirical evidence concerning empathy in autism is contradictory. This systematic review, which included 226 studies, thus offers a comprehensive overview of empathy in autism. It additionally examined the impact of the chosen empathy measure and the effect of several moderators. The results reveal a large effect size for cognitive empathy (g = -0.85) and unidimensional empathy (g = -1.70), but only a small effect size for affective empathy (g = -0.17), which became non-significant when limiting analyses to high-quality studies. Meta-regressions suggest that publication year, study quality, alexithymia, verbal IQ, and age do not moderate empathy, whereas sex specifically moderates unidimensional empathy. Critically, there were notable differences in effect sizes obtained across empathy measures and even between subscales of the same measure. For instance, results for the affective empathy subscales of the Interpersonal Reactivity Index reveal lower empathic concern (g = -0.59) but increased personal distress (g = 0.67) in autistic relative to typical participants. A qualitative review of ecological and neuroimaging tasks mostly demonstrated minimal autistic versus non-autistic differences. This meta-analysis thus suggests that measuring empathy as a unidimensional construct may both distort and increase the notion of an empathy deficit in autism.

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7. Firouzjah MH, Pourazar M, Nazari Kakvandi S, Dalasm RA. The impact of physical activities on physical literacy and cognitive performance of children with autism spectrum disorder (ASD). Early Hum Dev. 2025; 210: 106350.

PURPOSE: Autism spectrum disorder (ASD) is one of the most severe childhood disorders and every child with this disorder has a unique situation in terms of strengths or challenges in cognitive, motor, emotional and social fields. METHODS: This study is semi-experimental with pre-test and post-test design and a control group. The statistical population in this research included all (ASD) from 8 to 12 years old in the educational centers for children with this disorder in Mazandaran province in 2024. Random sampling method was applied to select the target sample, based on which 30 children with autism spectrum disorders were selected for this study. The training program was taken from Horwitz and Sissel (Horwitz R), which includes reinforcement, games, and sports activities for children, performed by the experimental group for 24 sessions (60 min each session and for 70 days). Canadian Assessment of Physical Literacy – Second Edition (CAPL-2) was employed to assess physical literacy and Tower of London test for cognitive performance. The data were analyzed by multivariate covariance method. RESULTS: The obtained results indicated that for the total physical literacy, the results of the post-hoc-test for the main effect of Practice intervention showed that the experimental group is significantly different from control group, all p < 0.05. Means comparisons showed that the experimental group resulted in higher physical literacy than control group. Also time test (reaction time) from the series of tests of the tower of London (Cognitive Performance) no significant differences two groups in the pre-test (F > 1), confirming that the two groups did not differ before training. CONCLUSION: Therefore, it can be concluded that performing physical activities as an essential and main part of the daily schedule of these children can provide effective consequences in improving their cognitive performance and physical literacy.

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8. Fitzgerald R, Eck L, Pazol K, Wiggins L, Durkin M, Nadler C. COVID-19 Infection and Mitigation for Young Children With Autism and Other Disabilities. J Dev Behav Pediatr. 2025.

OBJECTIVE: This study investigated prevalence of positive tests for COVID-19 infection and difficulties with mitigation strategies among young children with autism spectrum disorder (ASD) and other developmental disabilities (DD) compared with children from the general population (population comparison group [POP]). METHODS: Before the pandemic, children aged 2 to 5 years in the Study to Explore Early Development (SEED) completed a developmental assessment assigning them to a study group (ASD, other DD, or POP). Caregivers were recontacted in 2021 to complete a questionnaire assessing the impact of the pandemic in 2020 when children were aged 3 to 8 years. Modified Poisson regression models assessed the relationship between study group and difficulty with mitigation strategies and nasal swabbing. RESULTS: Caregivers of 1027 SEED participants completed the survey. Prevalence of having 1 or more positive COVID-19 tests was 3 times higher for children in the ASD and DD groups versus the POP group. In adjusted models, children in the ASD group were more likely to have difficulty with all 3 mitigation strategies and nasal swabbing compared with children in the POP group. The DD group were more likely than the POP group to experience difficulty with handwashing and physical distancing. CONCLUSION: Compared with the general population, youth with ASD and DD were more likely to have at least 1 positive COVID-19 test and difficulty following mitigation strategies. These findings underscore the importance of supporting youth with ASD and DDs in anticipation of future public health emergencies and the annual respiratory disease season.

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9. Hirosawa T, Soma D, Sano M, Kameya M, Yoshimura Y, Iwasaki S, Tanaka S, Kikuchi M. Baseline-dependent network reactivity to visual input in children with autism spectrum disorder: a magnetoencephalography study. Front Psychiatry. 2025; 16: 1600973.

BACKGROUND/AIMS: Neuroimaging studies suggest altered functional brain organization in children with autism spectrum disorder (ASD), particularly in response to visual stimulation. However, how transitions between different visual states modulate brain network in ASD remains unclear. This study aimed to investigate how transitioning from minimal visual input (fixation in a dark room, DR) to a silent video (eyes open, EO) alters functional brain networks in children with ASD compared with their typically developing (TD) peers. METHODS: We analyzed magnetoencephalography (MEG) data from children with ASD (n=23) and TD children (n=31), aged 3-10 years. MEG signals were mapped to 68 cortical regions using the Desikan-Killiany atlas, and functional connectivity was assessed using the phase lag index across five frequency bands (delta, theta, alpha, beta, and gamma). Graph theoretical analyses quantified the clustering coefficient (C), characteristic path length (L), and small-worldness (SW) to evaluate network organization. RESULTS: Both groups exhibited increased alpha-band clustering coefficients under EO. Notably, baseline (DR) graph metrics predicted EO-induced changes, with higher initial values associated with smaller subsequent increases. Diagnosis-by-condition interactions emerged in the delta and beta bands: children with ASD exhibited more pronounced increases in SW from DR to EO, whereas TD peers showed more modest or opposite shifts. Within the ASD group, larger beta-band SW increases correlated with greater autistic trait severity (Social Responsiveness Scale), whereas in TD children, delta-band increases associated with milder autistic-like traits. CONCLUSION: These findings reveal age- and diagnosis-specific differences in how visual stimulation reshapes functional brain network organization. They also highlight the potential of network metrics as biomarkers for ASD, though validation in larger, more diverse cohorts is needed to establish clinical relevance.

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10. Kaçan H, Kaş Alay G, Yeyit Ş, Gümüş Çaliş G, Birol Z. The Effect of Applied Group Training on Perceived Social Support, Depressive Symptoms, and Self-Compassion Given to Mothers with Children with Autism: a Quasi-Experimental Study. J Autism Dev Disord. 2025.

To investigate the effect of applied group training given to mothers of children with autism on perceived social support, depressive symptoms, and self-compassion. The sample of the study, which was conducted quasi-experimentally in non-randomized groups, consisted of 44 mothers of children with autism, 22 in the experimental group and 22 in the control group. A descriptive characteristics form, the Multidimensional Scale of Perceived Social Support, Beck Depression Inventory, and Self-Compassion Scale were used to collect data. A total of 48 h of practical group training was given to the mothers over a period of 6 weeks, providing them with an environment where they could interact within the group. Data were analyzed using the SPSS 22.0 program. Number, percentage, mean, standard deviation, repeated measurements t-tests, and complementary Bonferroni tests were used to evaluate the data. There was a significant increase in perceived social support (t = -6.697; p <.001) and self-compassion (t = -8.676; p <.001) scores and a significant decrease in depression scores (t = 4.840; p <.001) of the experimental group. These changes were not statistically significant in the control group (p >.05). It was determined that applied group education could reduce depression levels by increasing the social support perception and self-compassion levels of mothers of children with autism. Future research could examine the short- and long-term effects of such interventions on both caregivers and children with autism. Regular group training can contribute to the psychosocial empowerment of mothers.

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11. Kim J, Taylor IK, Schwab T, King C, Duru EE, Jones KB. Adverse Birth Outcomes in Pregnant Women With Intellectual and/or Developmental Disabilities by Substance Use Disorder Status. Subst Use Misuse. 2025: 1-8.

OBJECTIVE: There remains a gap in research examining substance use disorder (SUD) during pregnancy among women with intellectual and/or developmental disabilities (IDDs). This study investigates the association between SUD and birth outcomes in this population. METHODS: This retrospective cohort study analyzed 5,512 births from 2,445 mothers with IDDs using the Utah Population Database (1996-2018). Outcomes included preterm birth, low birth weight, cesarean delivery, congenital anomalies, and neonatal intensive care unit (NICU) admission. Random-effects logistic regression models were applied. RESULTS: Among all births, 18.8% were to mothers with SUD, with this rate increasing from 8% in 1996 to 48% in 2018. SUD was associated with a 57% higher risk of preterm birth (OR = 1.57, p = 0.01). Low birth weight was more common in the SUD group, with a 90% increased risk (OR = 1.90, p < 0.01). SUD was also linked to higher rates of cesarean delivery (OR = 2.22, p = 0.02), while it was not significantly associated with NICU admission (OR = 1.43, p = 0.11). CONCLUSIONS: This study reveals significant associations between SUD and adverse birth outcomes in pregnant individuals with IDDs. The findings underscore the need for targeted interventions to mitigate risks and improve access to prenatal care.

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12. Kreiser N, Segal O. The Power of Two: Exploring the Impact of Mothers’ and Fathers’ Involvement in Speech-Language Pathology Treatment for Children with Autism. Autism Dev Lang Impair. 2025; 10: 23969415251355462.

PURPOSE: This study aimed to investigate the impact of fathers’ and mothers’ involvement in treatments by speech-language pathologists (SLPs) on parent-child communication, play, and feelings of caregiver emotional load in families with children diagnosed with autism spectrum disorder (ASD). METHODS: Data from 51 families, including 51 fathers and 51 mothers, were analyzed, focusing on measures of involvement in treatments, parent-child play, parent-child communication experience, the child’s communication skills, and feelings of caregiver emotional load. Pearson correlations were conducted to explore associations between parental involvement, child variables, and parental factors. Path analysis was employed to delineate the relationships between parental involvement and treatment outcomes. RESULTS: Mothers exhibited significantly higher scores in involvement in treatments and feelings of caregiver emotional load compared to fathers, while no significant difference was found in parent-child communication experience. Both fathers and mothers demonstrated direct association between involvement in treatment, enhanced play and better communication experience with their children. Only fathers demonstrated direct associations between involvement in treatment and reduced caregiver emotional load, as well as improved communication skills in their children. The involvement of fathers in treatment mediated the association between paternal education level and the child’s gender to treatment outcomes. Communication experience with the child was negatively associated with parental feelings of emotional load. CONCLUSIONS: Active involvement by both parents is important for supporting parent-child play and communication. Fathers, in particular, experience benefits from involvement in treatments by SLPs, including decreased feelings of emotional load. These findings underscore the significance of considering demographic factors such as parental gender, education level, and the child’s gender when designing SLP treatments for children with ASD and guiding their parents.

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13. Li X, Li L, Liu X, Cheng Z, Zhang W. Elevated Ocular and Visual Disorder Risk in Developmental Disabilities: Insights from Cross-Sectional Study and Mendelian Randomization Analysis. J Autism Dev Disord. 2025.

The visual health of children diagnosed with developmental disabilities has received limited attention, partly due to the intricate nature of their conditions. This study aims to clarify the associations between developmental disabilities and ocular disorders, exploring both correlations and potential causal relationships, to emphasize the importance of providing focused ocular attention for these children. This 3-year cross-sectional study included 13,889 students (309 with developmental disorders). Refractive errors were compared between those with and without developmental disorders. Mendelian randomization established genetic causal links between developmental and visual disorders. GWAS of brain MRI data identified shared regions influencing both conditions. Developmental disabilities were significantly associated with higher prevalence (OR 1.846, 95% CI 1.418-2.404, p < 0.001) and severity (OR 3.137, 95% CI 2.399-4.103, p < 0.001) of astigmatism. An in-depth analysis of genetic factors consistently emphasizes cognitive, perceptual, emotional, and behavioral disparities, as substantial determinant for the risk of astigmatism (OR 1.057, 95% CI 1.019 to 1.096, p = 0.003). Furthermore, an array of developmental disorders emerges as contributory elements to the development of cataracts, retinal diseases, and glaucoma. Importantly, the TBSS L2 retrolenticular part of the internal capsule and SWI T2 star caudate concomitantly correlates with both developmental disabilities and ocular pathologies. Children with developmental disabilities have a higher risk of developing ocular conditions. Early and comprehensive ophthalmological assessment by a multidisciplinary team is essential to promote optimal visual outcomes and quality of life for these children.

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14. Long J, Liao X, Han K, Chen J, Li H, Liu Y, Tang Z, Zhang H. A Case Report of High-Dose Repetitive Transcranial Magnetic Stimulation-Induced Excessive Laughing in a 6-Year-Old Boy With Autism Spectrum Disorder. Clin Case Rep. 2025; 13(8): e70731.

High-dose transcranial magnetic stimulation-induced excessive laughter in a 6-year-old autistic male. We hypothesized that this phenomenon reflected prefrontal disinhibition or exaggerated emotional response. This case emphasizes the necessity for modified treatment protocols with concurrent psychiatric assessment, emotional evaluation, and neurophysiological monitoring when encountering such adverse effects during neuromodulation therapy.

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15. Merken F, Deliens G, Geelhand P. Brief Report-Written Personal Narratives of Autistic and Non-autistic Women: A Linguistic Analysis. J Autism Dev Disord. 2025.

PURPOSE: Narrative research in autism has consistently revealed linguistic differences between autistic and non-autistic individuals. However, existing studies predominantly focus on male samples, overlooking the communicative profiles of autistic women. Recent studies suggest that autistic women exhibit distinct socio-communicative characteristics compared to both autistic men and non-autistic women. Given the important role of written communication in academic and professional settings and the reported preference for written expression among autistic adults, this study investigates the linguistic features of written narratives produced by autistic and non-autistic women. METHODS: Fifteen autistic and fifteen non-autistic women each wrote four episodic memories based on emotion cue words (pride, sadness, happiness, anger). These narratives were systematically analyzed across three linguistic dimensions: microstructure (narrative length, lexical variability, use of unique and low-frequency words), macrostructure (use of causal connectives) and internal state language (emotion, cognition, perception, modality and evaluation words). RESULTS: Autistic women produced significantly longer narratives with higher lexical variability, more unique and low-frequency words than non-autistic women, particularly in narratives involving negative emotions. They also used fewer explicit causal connectives and showed a reduced use of cognition words but included more perception words compared to non-autistic women. No group differences were observed for emotion, modality and evaluation words. CONCLUSION: This exploratory study contributes to a better characterization of the linguistic profile of autistic women in a written task. The results suggest a unique writing profile, highlighting strengths in lexical variability and vocabulary, and challenges in the expression of explicit causal relations and internal state language.

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16. Morales A, Korsakova E, Mansooralavi N, Soliman P, Jahanbani S, Olsen ML, Badhuri A, Lowry WE. Evidence for neuronal DNA damage in Rett Patient Brain. Dis Model Mech. 2025.

Rett Syndrome is characterized by a postnatal loss of neurophysiological function and regression of childhood development. Because the syndrome is X-linked and males with MECP2 mutations generally do not survive birth, the study of this syndrome has been complicated by the fact that in the female brain, a portion of neurons express wildtype MECP2, and another portion express a non-functional allele of MECP2. Here we present an approach that allows for transcriptional profiling of individual neurons and a direct comparison between neurons that express functional MECP2 with those that have diminished MECP2 function. With a novel profiling approach, we find that mutant neurons from Rett brain show patterns of defects in expression of synaptic and metabolic genes. A similar analysis on Rat brain lacking MECP2 expression yielded similar patterns, suggesting Rat is a suitable in vivo model of Rett Syndrome. These analyses identified DNA damage and senescence transcriptional signatures specifically in MECP2 null neurons, suggesting a possible trigger of dysfunction in Rett Syndrome. Together, these data highlight potentially defective molecular, physiological and metabolic pathways in Rett brain neurons.

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17. Nour-Eldine W, Ltaief SM, Ouararhni K, Abdul Manaph NP, de la Fuente A, Bensmail I, Abdesselem HB, Al-Shammari AR. A multi-omics approach reveals dysregulated TNF-related signaling pathways in circulating NK and T cell subsets of young children with autism. Genes Immun. 2025.

Peripheral immune dysregulation is frequently reported in autism spectrum disorder (ASD); however, the underlying molecular mechanisms remain unclear. We recruited a well-defined cohort of young Arab children with ASD, aged 2-4 years, along with matched controls in Qatar. Using a multimodal approach, we integrated transcriptomic, proteomic, and single-cell RNA-seq data analyses from this cohort. Targeted transcriptomic profiling identified differential expression of 50 immune-related genes in the circulating PBMCs of children with ASD, three of which (JAK3, CUL2, and CARD11) negatively correlated with ASD symptom severity. These gene signatures were validated in independent studies using blood and brain tissues from individuals with ASD. Enrichment analysis revealed involvement of these genes in immune function, particularly through TNF signaling pathway. Proteomic analysis highlighted disrupted TNF signaling and upregulated levels of TNFSF10 (TRAIL), TNFSF11 (RANKL), and TNFSF12 (TWEAK) in plasma of individuals with ASD. Single-cell RNA-seq revealed that B cells, CD4 T cells, and NK cells potentially contributed to these upregulations in ASD. Dysregulated TRAIL, RANKL, and TWEAK signaling pathways were specifically observed in CD8 T cells, CD4 T cells, and NK cells of individuals with ASD. These findings provide new insights into immune dysregulation mechanisms in ASD and highlight potential therapeutic targets.

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18. Pfeiffer B, Weiss KE, Tomczuk L, Slugg L. Community-Driven Priorities in Intellectual and Developmental Disabilities Transition Services: An Environmental Scan. OTJR (Thorofare N J). 2025: 15394492251352398.

The transition into adulthood can be an arduous time for young adults with intellectual and developmental disabilities (IDD) who face new responsibilities and significant shifts in services they receive. Peer support by someone with shared lived experience of disability can provide relevant and effective transition services. An inclusive team of researchers, which engaged people with lived experience in all research activities, conducted an environmental scan including a scoping review, focus groups (5 groups, n = 28 participants), and interviews (n = 19) to identify services and research priorities from the perspective of key community members (i.e., young adults with IDD, parents, peer supporters, researchers and service providers). Crosswalked data from the three sources demonstrated community-driven transition service priorities of independent living skills, person-centered approaches, and post-secondary experiences with peer support identified as a capacity builder. Priorities of key community members can be leveraged for existing transition and peer support interventions. Priorities for Transition Services Identified by Key Community Partners including Young Adults with Intellectual and Developmental DisabilitiesThe transition to adulthood can be hard for young adults with intellectual and developmental disabilities (IDD) due to changes in routines, responsibilities, and available services. Adult services often lack providers who understand the unique needs of people with IDD, despite increased demand for support during this time. Peer support, offered by people with similar lived experiences, can help fill this gap by providing meaningful assistance and understanding. However, the voices of young adults with IDD are often overlooked in setting transition priorities, with more focus placed on the views of family members, teachers, and other caregivers. To address this, researchers conducted an environmental scan to identify priorities for services and research from key community members, including young adults with IDD, peer supporters, caregivers, and professionals. An inclusive research team, which included people with IDD, used different types of methods like a scoping review of literature, interviews, and focus groups, to gather diverse perspectives. The results were combined and reviewed by an advisory board to identify critical needs for transition services. The top priorities identified were the development of independent living skills, person-centered approaches, and post-secondary experiences (like college or work). Peer support was highlighted as an important way to strengthen these services. By focusing on these community-driven priorities, researchers and service providers can better understand and support young adults with IDD as they transition to adulthood. eng.

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19. Rosenbaum P, Chambers EM. In developmental disability, parenting is a dance led by the child. Dev Med Child Neurol. 2025.

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20. Ruffino C, Gueugneau N, Grosprêtre S. Barriers and facilitators to sports participation in autistic Europeans: insights from a large-scale questionnaire survey. Front Sports Act Living. 2025; 7: 1580462.

BACKGROUND: Autism is a neurodevelopmental condition affecting both social interactions and individual motor coordination with a wide spectrum of characteristics and support needs varying significantly across individuals. Given the increasing prevalence of autism, effective interventions are crucial to improving quality of life. Physical activity has been recognized as a valuable tool for enhancing physical fitness and reducing autism-related traits, such as repetitive behaviors and social difficulties. However, autistic individuals tend to be less active than non-autistic. The SACREE Sport & Autism project, part of the European ERASMUS + initiative, aims to bridge the gap between standard sports recommendations and autistic individuals’ needs. This study seeks to provide an overview of sports participation among autistic Europeans and identify factors influencing their engagement in physical activities. METHOD: Using an online questionnaire translated into five languages, data was collected from 540 respondents across several European countries. Most responses were provided by parents or caregivers (64.3%), while 25.5% came directly from autistic individuals. RESULTS: Findings revealed that 71.2% of respondents engage in regular physical activity, with an average of 2.45 sessions per week lasting approximately 65 min each. Individual sports dominate, comprising 79% of reported activities, with aquatic exercises being the most common. While many participants acknowledge the benefits of physical activity, 74% believe that sports are not sufficiently accessible for autistic individuals. The primary reasons for non-participation include a lack of suitable facilities (54.1%) and uncertainty about where to practice (22.2%). CONCLUSIONS: The study underscores the importance of structured physical activity in improving both physical health and autism-specific characteristics. However, the findings highlight discrepancies between current practices and recommended physical activity levels. Increased accessibility to adapted sports programs, better awareness campaigns, and policy reforms are needed to encourage greater participation. Furthermore, the study suggests that practice type plays a key role, with individual, predictable activities being preferred over dynamic, team-based sports. By shedding light on sports habits among autistic individuals, this research provides a foundation for tailored interventions and public policies aimed at fostering an inclusive and sustainable sports culture across Europe.

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21. Ryszkiewicz P, Malinowska B, Jasińska-Stroschein M. Evaluating the Causal Effects of ADHD and Autism on Cardiovascular Diseases and Vice Versa: A Systematic Review and Meta-Analysis of Mendelian Randomization Studies. Cells. 2025; 14(15).

Attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are neurodevelopmental disorders with lifelong functional implications. Their potential role as emerging risk factors for cardiovascular diseases (CVDs) is increasingly acknowledged. The aim of this study was to conduct a comprehensive evaluation and meta-analysis of Mendelian Randomization (MR) studies exploring the causal effects of ADHD and ASD on various cardiovascular outcomes and vice versa. Three databases were searched, study quality was evaluated using a STROBE-MR checklist, and relevant data were extracted. In total, 14 studies revealed genetic associations between ADHD or ASD susceptibility and selected CVDs and vice versa. Notably, genetic markers for ADHD were linked to an increased risk of coronary artery disease, heart failure, and various types of stroke. Genetic predisposition to ASD raised the likelihood of atrial fibrillation and heart failure. Atrial fibrillation showed a causal relationship with elevated ADHD risk. Interestingly, hypertension was not associated with ADHD or ASD at the genetic level. Further efforts are needed to fully elucidate the basis of causal links from a mechanistic perspective. Overall, the results highlight the need for cardiovascular risk assessment and management in the clinical care of individuals with ADHD and ASD.

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22. Scahill L, Johnson CR, Wenzell ML, Barto LM, Mulligan A, Williams AT, Johnson LM, Gillespie SE, Lecavalier L. Clinical and Demographic Correlates of Insomnia Symptoms in Children with Autism Spectrum Disorder. J Autism Dev Disord. 2025.

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23. Sharma G, Russell AL, Dixon KG, Fusha R, Triplett JW. Extracellular spike waveform analysis reveals cell type-specific changes in the superior colliculus of fragile X mice. bioRxiv. 2025.

A long-standing goal of neuroscience has been to elucidate the diverse complement of neurons in the brain, which can be defined by several criteria. Analysis of action potential shape in extracellular recordings has revealed subpopulations in several regions of the brain, allowing for insights into neuronal subtype-specific function in the intact brain. The superior colliculus (SC) is a critical sensorimotor region, integrating visual, somatosensory, auditory, and nociceptive inputs to direct complex behaviors. Recent work suggests that the SC may be adversely impacted in neurodevelopmental disorders (NDDs), underscoring its importance. However, our understanding of cellular diversity in the SC lags in comparison to other regions, limiting our ability to parse circuit changes in NDDs. Here, we utilized semi-automated clustering methods to classify neurons in the mouse SC based on multiple features of extracellularly recorded waveforms to identify five putative cell types. Secondary analysis of firing statistics and visual tuning properties supported the cluster segregation. Interestingly, the proportions of units assigned to each cluster differed in the SC of a mouse model of fragile X syndrome (FXS, Fmr1 (-/y) ), with only four of five types identified. Furthermore, we observed changes in waveform properties and firing statistics, but not visual tuning properties, between genotypes in a subtype-specific manner. Taken together, these data add to our understanding of neuronal diversity in the SC and alterations of visual circuit organization and function in NDDs.

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24. Sonbol HM, Abdelmawgoud AS, El-Kady NM, Abdelhay ES, Abdel Tawab HE. Serum zonulin level in autistic children and its relation to severity of symptoms a case-control study. Sci Rep. 2025; 15(1): 27802.

Evidence suggests a possible link between Autism spectrum disorder and gut permeability, specifically as indicated by serum zonulin levels. However, limited studies examine this connection to symptom severity, especially in Egypt. Assessing serum zonulin level in children with autism and its relation to the severity of symptoms. In Mansoura University Hospital’s pediatric psychiatry outpatient clinics, case-control research was carried out with children with Autism diagnoses and age- and gender-matched typically developing controls. The Childhood Autism Rating Scale was used to gauge the severity of the symptoms, and the Enzyme-Linked Immunosorbent Assay (ELISA) was used to detect serum zonulin levels. Serum zonulin levels were considerably higher in children with Autism than in the control group (p < 0.05). Additionally, there was a positive correlation between higher zonulin levels and the degree of autism symptoms as determined by CARS scores (r = X, p < 0.05). Children with severe Autism had the highest zonulin levels, according to subgroup analysis, which suggests a possible connection between gut permeability and the intensity of symptoms. This study emphasizes how serum zonulin may serve as a biomarker for intestinal permeability in kids with Autism and how it may be related to the intensity of symptoms. These results highlight the need for more investigation into the gut-brain axis as a potential therapeutic target for Autism. Addressing gut permeability may provide new ways to lessen the intensity of symptoms and enhance results for children with Autism.

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25. Tumkaya S, Yucens B, Yasaran A, Akmehmetoglu V, Karadag F. Do Autistic Traits Predict Obsessive-Compulsive Symptoms? A Community-Based Study. Psychol Rep. 2025: 332941251363887.

Obsessive Compulsive Disorder (OCD) and Autism Spectrum Disorder (ASD) have similar characteristics. People with one of these disorders are more likely to meet the diagnosis of the other disorder than the general population. This study mainly investigated whether autistic traits predicted obsessive-compulsive symptom subtypes after controlling for some demographic features and clinical variables. This study included 460 university students from two universities and their family members. The subjects were asked to complete a sociodemographic and clinical data form, the Vancouver Obsessional Compulsive Inventory (VOCI), the Autism-Spectrum Quotient (AQ), the Beck Depression Inventory (BDI) and the Beck Anxiety Inventory (BAI). The relationship between autistic symptoms and obsessive-compulsive symptoms was assessed using linear regression analysis, controlling for age, sex, depression, anxiety scores, and a history of frequent childhood upper respiratory tract infections (URTIs). The AQ attention-switching score was associated with hoarding (β = 0.135, p = .002), just-right (β = 0.087, p = .026), indecisiveness (β = 0.101, p = .006), and total VOCI (β = 0.080, p = .038) score. AQ subscale scores other than attention-switching were not associated with VOCI scores. Age was negatively associated with obsessions (β = -0.133, p = .001), just-right (β = -0.129, p = .002), indecisiveness (β = -0.214, p < .001), and total VOCI score (β = -0.109, p = .006). BDI and BAI total scores were positively associated with all VOCI scores (all β in between 0.114 and 0.318, all p in between 0.033 and <0.001). Checking (p = .025), just-right (p = .038), and total VOCI scores (p = .046) were significantly higher in the group with a history of frequent childhood URTIs compared to the group without. Individuals with OCD symptoms may exhibit attention-switching deficits similar to those of individuals with ASD symptoms, suggesting a subgroup of OCD that shares features with ASD. Attention-switching deficits should be further investigated in terms of the relationship between ASD and OCD.

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26. Ullah S. Letter to the Editor regarding: « Clinical and functional outcomes in pediatric patients with Rett syndrome: a 15-year retrospective study ». Eur J Pediatr. 2025; 184(8): 517.

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27. Wang F, Yang S, Xu J, Zuo J, Zou M, Sun C. HCAR3 May Mediate Autism Symptoms: Evidence From RNA-Sequencing of Peripheral Blood Mononuclear Cells. Psychiatry Investig. 2025; 22(8): 878-85.

OBJECTIVE: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder for which there is currently no effective treatment, and no reliable diagnostic biomarkers are available for ASD. METHODS: The present study was designed to compare the gene expression profiles in children with ASD and typically developing children and validate differentially expressed genes (DEGs) to assist in the search for the pathophysiological markers of ASD. RESULTS: The results demonstrated the identification of 35 common DEGs with down-regulated expression and 21 with up-regulated expression. Gene ontology and Kyoto Encyclopedia of Genes and Genomes analyses demonstrated that these DEGs were predominantly involved in signaling and immunity pathways. Our findings revealed that hydroxycarboxylic acid receptor 3 (HCAR3) and tumor necrosis factor ligand superfamily member 15 (TNFSF15) were associated with ASD-related symbols. Following validation by external and internal cohorts, HCAR3 may be identified as a risk gene for ASD. CONCLUSION: Collectively, our findings indicate that some signaling-related and immune-related genes are expressed abnormally in children with ASD, and suggest that HCAR3 plays a critical role in the ASD phenotype. These findings may offer promising avenues for developing effective diagnostic biomarkers for ASD.

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28. Watanabe M, Takao C, Maeda C, Yonemitsu I, Kimura Y, Tominaga R, Nagamine T, Ono T, Toyofuku A. Case Report: Challenges of orthodontic treatment in patients with autism spectrum disorders diagnosed in adulthood. Front Psychiatry. 2025; 16: 1558789.

Patients with autism spectrum disorders (ASDs) occasionally have difficulties in dental settings owing to specific features, including hypersensitivity and restrictive persistence. When features of ASD remain unnoticed until adulthood, dental procedures would be provided without considering the patient’s potential ASD traits. Herein, we present three cases of ASD diagnosed in adulthood that experienced difficulties during orthodontic treatment, resulting in unsatisfactory outcomes, and discuss the importance of planning treatment and management that takes their ASD features into consideration. Case 1 involved a 23-year-old man who complained of unstable occlusion for three years since the initiation of orthodontic treatment and required orthodontic retreatment to return to his previous dentition. Previous orthodontic treatments had been discontinued on some occasions because of the hospitalized pharmacotherapy for exacerbated psychiatric conditions. Case 2 involved an 18-year-old woman who complained of unbearable changes in dentition in her upper incisors and changed facial appearance during orthodontic treatment, which caused her to drop out of school. Case 3 involved a 41-year-old woman who complained of a sliding jaw, especially when wearing a retainer, and changes in facial appearance for five years following the alignment of her dentition. All cases experienced discomfort and exacerbation of psychiatric conditions that were diagnosed as ASD during orthodontic treatment. Their complaints of persistent discomfort, including intolerance to the changed occlusion or facial appearance, would relate to their features of ASD, including hypersensitivities and restricted and repetitive behaviors. A vicious cycle between the exacerbation of their psychiatric conditions and uncomfortable sensations would impede the satisfactory goals of orthodontic treatment. Indications for orthodontic treatment should be carefully discussed, and treatment management that considers the characteristics of ASD, especially those that were diagnosed in adulthood, is crucial. This case series highlights the necessity of multidisciplinary follow-up throughout the long-term orthodontic treatment period in this patient population.

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29. White SW, Conner CM, Beck K, Mazefsky CA. Efficacy of Emotion Awareness and Skills Enhancement (EASE) Program in Autism: A Randomized Controlled Trial. J Am Acad Child Adolesc Psychiatry. 2025.

OBJECTIVE: Autistic adolescents and adults often struggle with emotion dysregulation, and advocates consistently encourage more research on mental health. This study aimed to establish efficacy for psychotherapeutic intervention for emotion dysregulation for autistic adolescents and young adults. METHOD: In this multisite randomized controlled trial, a primarily mindfulness-based intervention called the Emotion Awareness and Skills Enhancement (EASE) Program, developed to improve emotion dysregulation in autistic adolescents and young adults, was compared to a rigorous active control condition (ACC) that allowed for personalized and evidence-based intervention as long as it did not include EASE core elements. It was hypothesized that the EASE group would demonstrate a steeper decline in emotion dysregulation, as well as decreased mental health problems, compared to those in ACC. A total of 109 participants were randomized, 102 began treatment, 89 participants completed all treatment sessions. intent-to-treat (ITT; n = 109) analyses were conducted, with supplemental per protocol analyses (PP; n = 76). RESULTS: Primary outcomes included emotion dysregulation severity and its interference with daily functioning, whereas secondary outcomes assessed mental health symptoms. Condition-naive interviews, which gauged impairment related to dysregulation, showed that the EASE group had more treatment responders (63%) compared to ACC (44%) (p = .052, odds ratio = 2.85), but this difference was not statistically significant. EASE participants demonstrated greater declines in emotion dysregulation than those in ACC (Reactivity, b = -0.168, p = .017; Dysphoria, b = -0.182, p = .010) at endpoint. EASE participants demonstrated improvement in internalizing and externalizing symptoms, relative to baseline, based on self- and caregiver-report, whereas ACC participants showed improvement only in caregiver-reported externalizing symptoms. All effects were stronger in PP analyses, suggesting the possible importance of treatment dosage. CONCLUSION: Findings suggest that EASE improves emotion dysregulation for autistic adolescents and young adults. CLINICAL TRIAL REGISTRATION INFORMATION: Emotion Awareness and Skills Enhancement Program (EASE; https://clinicaltrials.gov/study/NCT03432832 DIVERSITY & INCLUSION STATEMENT: We worked to ensure that the study questionnaires were prepared in an inclusive way. We worked to ensure race, ethnic, and/or other types of diversity in the recruitment of human participants. One or more of the authors of this paper self-identifies as living with a disability.

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30. Xu Z, Zhang Z, Bao H, Wang J, Gu T, Su B, Wang Y, Qin P. The Chinese Shorten Version of the Autism-Spectrum Quotient (AQ-CSV): Simplification and evaluation of psychometric properties. Asian J Psychiatr. 2025; 111: 104647.

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31. Yeter B, Demirkol YK, Usluer E, Oğuz S, Eser M, Yarar MH, Canbek S, Sezgin BI, Akalın A, Karamık G, Durmuşalioğlu EA, Ocak Z, Karkucak M, Öztürk N, Kökali F, Baş Ş S, Özcan S, Nur B, Mıhçı E, Elcioglu NH. Clinical and molecular results in 15 Turkish patients with Wiedemann-Steiner syndrome: identification of eight novel KMT2A variants and a case of dual molecular diagnosis in the CSNK2A1. Eur J Pediatr. 2025; 184(8): 512.

Wiedemann-Steiner syndrome (WSS) is a rare autosomal dominant neurogenetic disorder caused by monallelic variants in KMT2A gene, characterized by neuromotor developmental delay, intellectual disability, microcephaly, seizures, behavioral disorders, dysmorphic facial features, hirsutism, and systemic anomalies. The KMT2A gene encodes a histone lysine methyltransferase crucial for the regulation of gene expression during early developmental stages. In this study, the clinical and molecular findings of 15 Turkish patients with WSS confirmed by whole exome sequencing are reported. Variant segregation was confirmed in all families. The ages of the patients were between 1.5 and 16 years. The majority of patients had neuromotor developmental delay, speech delay, and intellectual disability. The most frequently recognised dysmorphic facial features were thick eyebrows, long eyelashes, synophrys, hypertelorism, and broad nose. Other frequently observed clinical findings included short stature, congenital hypotonia, behavioral problems, genitourinary anomalies, and abnormal gait. Novel findings included focal segmental glomerulosclerosis, cholelithiasis, and sacrococcygeal teratoma. Fifteen different KMT2A variants were detected, including 8 novel (p.Gln3594*, p.Glu1407Argfs*4, p.Ser610Ilefs*9, p.Ser2188Leufs*25, p.Glu970Glnfs*37, p.Ser759Valfs*22, p.Lys1346Serfs*24, and c.11146 + 1_11146 + 6delinsA) variants. Additionally, one patient exhibited a dual molecular diagnosis with a de novo variant in CSNK2A1, associated with Okur-Chung neurodevelopmental syndrome. CONCLUSION: This study expands the clinical and molecular spectrum of WSS, highlighting novel variants and unique manifestations. It emphasizes the importance of molecular testing in accurate diagnosis and management. By characterizing phenotypic diversity and dual diagnosis, this work contributes valuable insights for advancing clinical care and guiding future research. WHAT IS KNOWN: • Wiedemann-Steiner syndrome (WSS) is a rare neurodevelopmental disorder caused by heterozygous KMT2A variants, characterized by developmental delay, intellectual disability, and distinctive facial features. • WSS exhibits marked clinical variability among affected individuals. WHAT IS NEW: • This study presents the largest Turkish WSS cohort to date, expands the phenotypic spectrum with novel findings such as focal segmental glomerulosclerosis, cholelithiasis, and sacrococcygeal teratoma. • This study presents the largest Turkish WSS cohort to date and expands the phenotypic spectrum with novel findings such as focal segmental glomerulosclerosis, cholelithiasis, and sacrococcygeal teratoma, while also identifying eight novel WSS-associated variants, including p.Gln3594*, p.Glu1407Argfs*4, p.Ser610Ilefs*9, p.Ser2188Leufs*25, p.Glu970Glnfs*37, p.Ser759Valfs*22, p.Lys1346Serfs*24, and c.11146+1_11146+6delinsA.

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