1. Aktas R, Narin N, Yildiz K, Oksuz S, Atlan MA, Ozyurt A, Celik SF, Kardelen F, Tasci O, Karadeniz C. An Encouraging Approach to Complex ASDs: A Multicenter Study. Pediatr Cardiol. 2025.

Although percutaneous atrial septal defect closure is widely used, the surgical method may be preferred in cases with conditions that complicate transcatheter closure (large defect, rim deficiency or floppy rim, presence of septal aneurysm, multifenestrated defects, low age, and weight). This retrospective study evaluated data from patients with complex atrial septal defects who underwent transcatheter closure between January 2021 and August 2024. The parameters assessed included age, weight, defect size, rim size, septum characteristics, success rates, and complication rates. Transcatheter atrial septal defect closure was performed in 51 patients with complex defects. Two patients had multifenestrated defects, five had multiple defects, and 15 had an aneurysmal septum. Six patients were under one year old, and 21 had defects > 20 mm. In 25 patients, the stretched balloon size/total septum ratio was > 50%, in 44 patients, the balloon diameter/body surface area ratio was > 15 mm/m², and one had a malalignment defect. Among the patients with rim deficiency, six had isolated aortic, six had isolated inferior vena cava, five had isolated superior vena cava, and one had isolated posterior rim deficiency. Three patients had combined aortic and inferior vena cava deficiencies, and one had combined aortic and superior vena cava deficiency. The study revealed no complications except in two cases of device embolization. The success rate was 96.08% across all procedures. Percutaneous closure can be successfully performed in patients with complex atrial septal defects with low complication rates, similar to other atrial septal defects, with good results in experienced centers.

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2. Azad G, Eisler L, Taormina I, Herrera V. The Transition to Kindergarten for Children on the Autism Spectrum: A Qualitative Study Examining the Perspectives of Caregivers and Teachers on Home-School Collaboration. J Res Child Educ. 2025.

The transition to kindergarten can impact children’s academic, social-emotional, and behavioral well-being. Caregivers and teachers play a critical role during the kindergarten transition, especially for children with developmental disabilities, such as those on the autism spectrum (AS). In this study, we used qualitative data from focus groups (N = 7) with 11 diverse caregivers and 14 special education teachers from public schools to understand the transition to kindergarten for children on the AS in the northeast of the United States. The 11 themes that emerged from our data indicated that caregivers and teachers had concerns about children (e.g., daily living skills) and the school (e.g., support staff). Early, frequent, and personalized communication between caregivers and teachers that was bi-directional and action-oriented were reported as facilitators. Limited, non-existent, or negative communication between caregivers and teachers, as well as external circumstances (e.g., access to WiFi, busing), were highlighted as barriers. During the transition to kindergarten, effective caregiver-teacher meetings warranted clear expectations, a team-based approach, and data to promote home-school alignment. These findings suggest that trainings during professional development should encourage teachers to take a tailored approach in working with families to ensure a smooth kindergarten transition for children on the AS.

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3. Bond S, Murray J, Datta AN, Rafay MF, McAdam L, Neish CS, Rossignol E. Epidemiology and Healthcare Resource Utilization of Rett Syndrome in Canada: the Ontario experience. Can J Neurol Sci. 2025: 1-21.

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4. Brook A. How the ASCENT model can help optimize exposure therapies for Autistic clients. Front Psychiatry. 2025; 16: 1569882.

Exposure therapies are very effective for alleviating anxiety, yet limited research has focused on optimizing their effectiveness for Autistic clients. This « Perspective » article describes how the ASCENT model can guide tailoring exposure therapies to be more effective and affirming for Autistic clients. This model proposes supporting clients in Autonomous and Affirming goal setting (A), adapting for differences in Sensory processing, Stimming, Structure, Special interests (S), Communication (C), and Executive functioning (E), practicing with Neurohumility (N), and being Trauma informed (T). Because the ASCENT model is based on traits of Autistic clients and effective ways of working with them, it can help guide tailoring a wide variety of anxiety treatments. This article provides examples of how the ASCENT model can be applied to increase the effectiveness of several different types of exposure therapies, as well as articulating when exposure is not appropriate and accommodation is necessary instead.

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5. Chang C, Carandang RR, Silverberg J, Surkis C, Cunningham SD, Wang K, Qasba N. Patient Experiences in Accessing Reproductive Health Services for Women With Cognitive, Intellectual, and Developmental Disabilities: A Systematic Review. Womens Health Issues. 2025.

INTRODUCTION: Individuals with disabilities face barriers to care. Using a life-course and socio-ecological perspective, we reviewed studies on the experiences of individuals with cognitive, intellectual, and developmental disabilities (CIDD) in accessing sexual and reproductive health (SRH) services. METHODS: We systematically searched six online databases and gray literature, selecting studies published from January 2010 to June 2024 written in English. Narrative synthesis was used to identify key themes using the socio-ecological framework. Data were collected by using a standardized extraction form following the Population, Intervention, Comparator, and Outcome format. We conducted assessments of risk of bias and certainty of evidence using standardized tools. Certainty of evidence was assessed using Grading of Recommendations, Assessment, Development, and Evaluations (GRADE) for quantitative studies and Confidence in the Evidence from Reviews of Qualitative Research (GRADE-CERQual) for qualitative studies. RESULTS: Of 5,595 studies screened, 26 were included in the final analysis, with almost perfect inter-rater reliability (kappa = .87). SRH service categories included preventive care, puberty/menarche, family planning, pregnancy and fertility, reproductive cancer treatment, and general SRH services. We found lower receipt of preventive care services, lower use of contraception, higher rates of sterilization, and worse obstetric outcomes for individuals with CIDD compared with those without CIDD. Caregiver support was an interpersonal factor well represented in the literature, whereas the patient perspective was underrepresented. CONCLUSIONS: Future research and policy efforts should prioritize the perspectives of individuals with CIDD, particularly during puberty/menarche and menopause. Studies indicate a need for patient-centered approaches, caregiver support, provider training in disability-inclusive care, and accessible healthcare infrastructure to reduce barriers to care.

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6. Cho JM, Shin JW. Nutrigenomics for Autism Spectrum Disorder: A Multidisciplinary Framework for Personalized Nutrition in Special Education. Clin Nutr Res. 2025; 14(4): 329-37.

Autism spectrum disorder (ASD) is a multifactorial neurodevelopmental condition often accompanied by metabolic and nutritional imbalances. Conventional dietary interventions, such as the gluten-free, casein-free diet, typically fail to consider individual genetic variations. Nutrigenomics, the study of gene-nutrient interactions, offers a promising framework for exploring personalized dietary interventions that may help address the metabolic and neurological complexities associated with ASD, although current evidence remains preliminary. This research note offers recommendations for integrating nutrigenomics into special education through a multidisciplinary approach that combines clinical nutrition, genetics, and educational practice via a 3-phase agenda. Stage 1 focuses on identifying behavioral subgroups within special education settings and using validated tools such as the Child Behavior Checklist Scale to analyze nutritional intake. Stage 2 involves the development and pilot-testing of behavior-specific nutrition protocols that are tailored to these subgroups, incorporating input from practice experts in nutrigenomics. Lastly, in Stage 3, a personalized nutrition model that incorporates genetic screening and metabolic profiling is constructed in collaboration with dietitians, educators, and caregivers. By bridging clinical and educational domains, this study seeks to establish nutrigenomics-based nutrition therapy as a viable and equitable intervention for improving health and developmental outcomes among students with ASD.

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7. Clarke E, Tchoua PP, Thompson K, Wasser H, Agrawal S, Schenkelberg MA, de Oliveira S, Willis EA. Nutrition Practices Reported by Families of Children with Down Syndrome, Autism, and Without an Intellectual or Developmental Disability. J Nutr Educ Behav. 2025.

OBJECTIVE: To examine nutrition practices among caregivers of young children with Down syndrome (DS), autistic children, and children without an intellectual or developmental disability (CWIDD). METHODS: Caregivers of CWIDD (n = 98), with DS (n = 44), and autistic children (n = 42) completed an online survey of nutrition practices. Data were analyzed using analysis of covariance and multivariate logistic regression. RESULTS: Families overall met < 40% of recommended nutrition practices, with families of children with DS meeting < 15%. Compared with families of autistic children and CWIDD, families of children with DS were less likely to serve vegetables or model healthy eating, and more likely to offer fried or prefried meats. CONCLUSIONS AND IMPLICATIONS: Disparities in nutrition practices and education across groups highlight the need for tailored interventions to support diverse families.

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8. Dewitte MMJ, Van der Hallen R, Prinzie P, Warreyn P, De Pauw SSW. Conceptual Intersections of Autistic Characteristics, Internalizing and Externalizing Behaviors, and Personality in Autistic Youth: A Network Analysis. J Autism Dev Disord. 2025.

PURPOSE: This study aimed to investigate the interrelations between autistic characteristics, internalizing and externalizing behaviors, and personality traits in autistic youth. While these psychological constructs are individually well-established, their simultaneous associations have not been comprehensively assessed. METHODS: A sample of 434 parents of autistic children and adolescents (ages 6-18; M = 11.5 years, SD = 3.0; 69% boys) completed standardized questionnaires assessing their child’s autistic characteristics (SRS-2, RBS-R), internalizing and externalizing behaviors (CBCL), and and Five Factor personality traits (HiPIC). Network analysis was employed to explore how the intersections of these constructs when assessed as a comprehensive system. RESULTS: Results showed clear associations between personality and both internalizing and externalizing problems in the network, suggesting personality and internalizing/externalizing are distinct yet related constructs. In contrast, core autistic characteristics appeared more distantly linked. Strong inverse associations emerged between Benevolence and Externalizing problems, and between Emotional Stability and Internalizing difficulties. CONCLUSION: These findings underscore the need for integrative diagnostic and therapeutic approaches addressing autistic, internalizing/externalizing, and personality-based behavior patterns. Such approaches may enhance individualized support and intervention planning by accounting for the complex interplay between these psychological domains.

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9. Doulou F, Piolino P, Angeard N. Virtual reality programs targeting executive functions and social cognition evaluation and/or rehabilitation in children with ADHD or ASD-A narrative review. Front Psychol. 2025; 16: 1583052.

Various studies have underlined the possible effectiveness of innovative techniques, such as virtual reality (VR), during the assessment or the rehabilitation of cognition in clinical pediatric populations. This study aims to (a) review the VR environments designed to assess and/or enhance executive functions (EFs) and theory of mind (ToM) domains in children and adolescents with neurodevelopmental disorders and (b) evaluate the sensitivity and the efficacy of these VR tools. Following an overview of these studies (e.g., purpose and results), our study has two further goals: (1) to provide the methodological dimensions of each study (target skills/processes and clinical populations), and (2) to highlight the VR characteristics (e.g., sense of presence and immersive experience, the user’s point of view) implemented in the selected articles. A total of 75 studies published between 1996 and 2022 and fulfilling the selected criteria were found on database platforms such as PubMed or Science Direct. Our review demonstrates that VR could be useful as an assessment and training tool for cognitive and social impairments in pediatric clinical populations. However, the numerous clinical and VR designs highlight the need to develop a more systematic evaluation of VR programs to define what really works, especially in terms of generalization to more naturalistic settings.

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10. Fabio RA, Semino M, Perina M. Enhancing cognitive-motor recovery in Rett syndrome: effects of integrated intervention on neuropsychological and motor outcome. Front Psychol. 2025; 16: 1679593.

Cognitive-motor integration plays a crucial role in the rehabilitation of individuals with complex disabilities, where dissociated impairments in cognition and movement often hinder global functioning. In this study, we investigated the efficacy of an integrated neurorehabilitation program targeting both neuropsychological and motor domains in patients with Rett Syndrome. Baseline assessments included measures of attention, memory, and temporal sequencing, as well as gross, fine, and graphomotor abilities, evaluated using relevant GAIRS subscales (Global Assessment and Intervention Rating Scale). Nineteen patients were enrolled in an experimental group receiving specialized cognitive-motor training three times a week for two consecutive 5-week periods. A control group of 15 patients participated in standard educational activities without specific cognitive-motor intervention. Performance was evaluated at three time points: T0 (baseline), T1 (after 5 weeks), and T2 (after an additional 5 weeks). Results indicated significant improvements in both neuropsychological and motor functions in the experimental group, with gains observed at both T1 and T2. Notably, a strong and significant correlation emerged between improvements in motor and cognitive measures, underscoring the interdependence of these domains in neurodevelopmental conditions such as Rett Syndrome. These findings support the implementation of integrated cognitive-motor protocols in neurorehabilitation and highlight the value of synchronized interventions to foster global functioning in individuals with complex neurodevelopmental profiles.

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11. Fodstad JC, Russell R, Bryant LO, Tadevich LJ, Dwenger D, Gray MA. Improving Care for Autistic Youth in Correctional Settings. J Am Acad Psychiatry Law. 2025.

Youth on the autism spectrum who engage in delinquent or violent crimes can be adjudicated to juvenile correctional settings. These settings, which are meant to successfully reintegrate youth back into the community through education, counseling, and skills programs, are often ill-equipped to navigate the unique needs of youth on the autism spectrum. As a result, autistic youth in juvenile correctional settings often do poorly, minimizing the likelihood that successful reintegration occurs. The purpose of this review is to summarize the literature on the prevalence of autistic youth in correctional settings and their needs, as well as the standard of care often afforded to them in these settings. Finally, we will present suggested strategies informed by the literature whereby adjudicated autistic youth are provided services and support that are feasible in a correctional setting and align with autism-informed, evidence-based practices.

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12. Gonzalez D, Jonak CR, Bernabucci M, Molinaro G, Collins K, Assad SA, Gibson JR, Binder DK, Huber KM. Enhanced CB1 receptor function in GABAergic neurons mediates hyperexcitability and impaired sensory-driven synchrony of cortical circuits in Fragile X Syndrome model mice. Mol Psychiatry. 2025.

Electroencephalographic (EEG) recordings in individuals with Fragile X Syndrome (FXS) and the mouse model of FXS (Fmr1 KO) display cortical hyperexcitability at rest, as well as deficits in sensory-driven cortical network synchrony. A form of circuit hyperexcitability is observed in ex vivo cortical slices of Fmr1 KO mice as prolonged persistent activity, or Up, states. It is unknown if the circuit mechanisms that cause prolonged Up states contribute to FXS-relevant EEG phenotypes. Here we examined the role of endocannabinoids (eCB) in prolonged Up states in slices and resting and sensory-driven EEG phenotypes in awake Fmr1 KO mice. Bidirectional changes in eCB function are reported in the Fmr1 KO that depend on synapse type (excitatory or inhibitory). We demonstrate that pharmacological or genetic reduction of Cannabinoid Receptor 1 (CB1R) in GABAergic neurons rescues prolonged cortical Up states and deficits in sensory-driven cortical synchrony in Fmr1 KO mice. In support of these findings, recordings from Fmr1 KO cortical Layer (L) 2/3 pyramidal neurons revealed enhanced CB1R-mediated suppression of inhibitory synaptic currents. In contrast, genetic reduction of Cnr1 in glutamatergic neurons did not affect Up state duration, but deletion of Fmr1 in the same neurons was sufficient to cause long Up states. These findings support a model where loss of Fmr1 in glutamatergic neurons leads to enhanced CB1R-mediated suppression of GABAergic synaptic transmission, prolonged cortical circuit activation and reduced sensory-driven circuit synchronization. Results suggest that antagonism of CB1Rs may be a therapeutic strategy to correct sensory processing deficits in FXS.

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13. Hoffmann A, Berry-Kravis E, Brady N. Early Pragmatic Communication in Autism and Fragile X Syndrome. J Speech Lang Hear Res. 2025: 1-16.

PURPOSE: Autism and fragile X syndrome (FXS) are both associated with pragmatic communication difficulties, but the pattern of strengths and weaknesses varies. Early pragmatic communication skills include using communication for different functions, such as behavior regulation or establishing/maintaining joint attention. This study examines naturalistic samples of communication to assess pragmatic function variables in very young children with autism, FXS, and typical development (TD). METHOD: Using the Communication Complexity Scale, standardized communication samples were collected from children with autism (n = 10), FXS (n = 10), and TD (n = 10), matched on spoken word count. Patterns of overall communication and pragmatic functions are provided. The relationships between pragmatic communication and cognition, receptive language, expressive language, and autistic symptomatology were assessed. Group differences in the amount and complexity of the pragmatic functions of behavior regulation and joint attention were analyzed. RESULTS: Descriptively different patterns of overall communication and pragmatic functions emerged between groups, with lower amounts of joint attention in the group with autism. Trends toward significant correlations between expressive language and both pragmatic functions in FXS as well as behavior regulation and cognition in the FXS and TD groups emerged. There were no significant group differences. CONCLUSIONS: Findings highlight possible early differences in pragmatic communication between autism and FXS. Clinicians need to consider nuanced differences between groups.

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14. Hsu TT, Chen CP, Lin MH, Hung TE, Haung TN, Wang CY, Hsueh YP. Shared and divergent alteration of whole-brain connectivity and sensory deficits in multiple autism mouse models. Mol Psychiatry. 2025.

Autism spectrum disorder (ASD) is a heterogeneous developmental disconnection syndrome. Identifying circuit deficits is crucial for understanding ASD etiology, yet the involvement of multiple brain regions and genetic variations complicates this analysis. Here, using an AI-powered mapping platform, BM-auto (Brain Mapping with Auto-ROI correction), to analyze a Thy1-YFP reporter, we show that different ASD-associated mutations cause distinct circuit abnormalities but share common deficits in the piriform cortex, a region regulating olfactory discrimination and social behavior patterns. We analyzed the whole-brain distribution of the Thy1-YFP reporter in three ASD mouse models (Tbr1(+/-), Nf1(+/-), and Vcp(+/R95G)). YFP signals revealed altered axonal projections and structural connectivity. We also found that Thy1-YFP(+) cell numbers varied across brain regions, revealing deficits in the differentiation or maintenance of projection neurons. While each mutation caused unique connectivity alterations, sensory regions-including the visual, somatosensory, and piriform cortices-were recurrently affected. However, effects on the visual and somatosensory cortices varied between models. The piriform cortex was the only region consistently impaired, showing reduced YFP signals and fewer Thy1-YFP(+) neurons across all three models. Furthermore, all three mutants exhibited common olfactory discrimination impairments. Manipulating piriform cortex activity altered social behavior patterns, highlighting its role in ASD-linked circuit dysfunction. These findings underscore the vulnerability of sensory regions-especially the piriform cortex-to ASD-related mutations, strengthening the notion that altered sensory experiences are common in ASD.

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15. Hugh ML, Michael OG, Joshi MM, Hernandez AM, Locke JJ. Exploring Factors Across Levels Impacting Educators’ Selection of Evidence-Based Practices for Autistic Students. Implement Res Pract. 2025; 6: 26334895251389976.

Introduction: Front-line implementers report that selecting an evidence-based practice is the most challenging aspect of supporting Autistic students, which may contribute to the long-standing implementation gap. There is a need to understand educators’ (special education teachers’, general education teachers’, and paraeducators’) decision-making and determinants of their evidence-based practice (EBP) selection. Method: This study aimed to identify educators’ decision-making factors, focusing on (a) information sources and (b) factors within the student, intervention, educator, and classroom levels. Eighty-one educators (general education teachers, special education teachers, and paraeducators) participated in semistructured interviews regarding their EBP selection for a specific student they served in inclusive classrooms. Results: General and special education teachers cited EBP sources from their teacher preparation and colleagues with autism expertise, while paraeducators relied on existing classroom practices and guidance from other educators. EBP decision-making frequently revolved around student and intervention characteristics, focusing less on educator, environment, and resource determinants. Educators made individualized EBP decisions for each student, selecting EBPs that served all students. They also shared that their decision-making was most supported through collaboration, despite limited opportunity. Conclusion: The study provides insights into key team members’ EBP selection for Autistic students to aid in the development of implementation supports. Educators’ Choices of Teaching Practices for Autistic Elementary Students Teachers and paraeducators face challenges when deciding what evidence-based practices (EBPs) to use for Autistic children. This decision-making process is crucial and may contribute to the ongoing gap in using these practices effectively. To better understand what educators consider or think about when deciding to use or not use a practice, we interviewed 81 educators (general education teachers, special education teachers, and paraeducators) on why and how they choose practices for Autistic students who they serve in inclusive settings. The study aims to identify the how educators learned about practices (i.e., information source), how they considered factors related to the student, the intervention, the educator, and the classroom environment, and how they worked together to make these decisions. General and special education teachers often mentioned teacher preparation programs, school-based training, and advice from colleagues as their main sources of information. In contrast, paraeducators relied more on existing classroom practices and guidance from other educators. When making decisions about EBPs, educators focused mainly on the characteristics of the student and the intervention, paying less attention to factors related to the educator, the environment, and available resources. They described different ways of collaborating, from team-based decision-making to following directions from others. This study provides insights into the decision-making processes of key team members in using EBPs. These insights can help develop better supports to improve collaboration among educators and enhance the selection of EBPs for use in inclusive settings. eng.

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16. Khachadourian V, Anderson M, Arildskov ES, Grove J, Reichenberg A, Sandin S, Schendel D, Hansen SN, Croen LA, Janecka M. Cross-Setting Replication of the Associations Between Maternal Health and Autism. J Am Acad Child Adolesc Psychiatry. 2025.

OBJECTIVE: Autism spectrum disorder (ASD) is a neurodevelopmental condition with early-life origins. Maternal health conditions during pregnancy have been linked to autism risk, but most studies focus on single populations, limiting generalizability. We examined whether associations previously reported in a Danish registry-based study hold in a U.S. METHOD: We analyzed electronic health records of children born between 2010 and 2017 at Kaiser Permanente Northern California (KPNC) and their mothers. Maternal diagnoses were classified as chronic or non-chronic, and associations with ASD in the child were assessed using Cox models, adjusting for sociodemographic factors, healthcare utilization, and comorbid maternal diagnoses. Methods were aligned with the Danish study for comparability. RESULTS: Among 224,353 children in the KPNC cohort, 5,448 (2.4%) were diagnosed with autism. Of the 42 maternal diagnoses significantly associated with autism in Denmark, 38 were evaluable in KPNC, and 18 remained statistically significant after adjustment. Most associations had point estimates consistent with the Danish study, particularly psychiatric and cardiometabolic conditions. CONCLUSION: Despite demographic and healthcare differences, 35 of the 38 associations found in the Danish study replicated qualitatively (direction of effect) in the U.S. cohort, suggesting robust cross-setting relevance. Further research is needed to explore underlying mechanisms and effect modifiers.

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17. Kopańska M, Ochojska D, Sarzyńska I, Trojniak J, Szczygielski J. Exploratory quantitative EEG characteristics in children with autism spectrum disorder. Front Psychiatry. 2025; 16: 1689000.

INTRODUCTION: Autism Spectrum Disorders (ASD) are currently one of the most common childhood conditions. It is estimated that they affect approximately 1 in 31 children. Early and rapid diagnosis can increase a child’s chances of reaching full developmental, social, and educational potential despite their condition. METHODS: Our study aimed to describe a brainwave pattern in children with mild autism spectrum disorder (Level-1 according to DSM-5) based on quantitative electroencephalography (QEEG) analysis. The QEEG study is one of the valuable electrophysiological methods used in neurology and psychiatry, becoming more and more popular for diagnosing ASD. Our study included 48 children aged 7-10 years. Based on previous clinical examinations, 24 of them were diagnosed with mild ASD (mASD). Quantitative electroencephalography for Delta, Theta, Alpha, sensorimotor rhythm (SMR), Beta1, and Beta2 waves was performed using electrodes placed at thirteen recording points (frontal: FzF3F4, central: CzC3C4, parietal: P3PzP4, temporal: T3T4, and occipital: O1O2 points) with eyes open and closed. RESULTS: A comparison of the results between the mASD group and control group revealed significantly higher amplitude values for all Delta, Theta, Alpha, SMR, Beta1, and Beta2 wave measurements in the mASD population. Furthermore, the overrepresentation of Beta2-waves could be discerned in mASD children, as compared to their non-ASD-affected peers. DISCUSSION: The described pattern may help screen for mASD or confirm the diagnosis in the pediatric population of mASD-suspected patients. Additionally, it is worth noting that the results obtained demonstrate the importance of QEEG in detecting different patterns of brain activity in children with ASD, which plays a significant role in better understanding the heterogeneity of this disorder.

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18. Lee BK, Stephansson O, Gardner RM. Paracetamol (acetaminophen) use in pregnancy and risk of autism and ADHD. Bmj. 2025; 391: r2438.

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19. Martinez-Pizarro A, Picó S, Alvárez M, Pose-Utrilla J, Holm LL, Doktor TK, Andresen BS, Lucas JJ, Desviat LR. Oligonucleotides targeting the 3′ splice site downstream of a microexon as an innovative therapy for autism. NAR Mol Med. 2025; 2(4): ugaf035.

Microexons are enriched in genes linked to autism spectrum disorders (ASDs). We have previously demonstrated decreased inclusion of a neuronal specific 24 bp microexon of the translational regulator CPEB4 in brains of idiopathic ASD cases and that this leads to CPEB4 aggregation and subsequent under-expression of multiple high confidence ASD-risk genes. Furthermore, decreased inclusion of the CPEB4 microexon is also a novel etiological mechanism in schizophrenia (SCZ). In this work, we designed a series of splice switching antisense oligonucleotides (SSOs) targeting the CPEB4 microexon genomic region. SSOs targeting intronic regions near the microexon resulted in a decrease in microexon inclusion in neuroblastoma cells, by blocking hnRNPC binding, mimicking the isoform imbalance observed in ASD. Interestingly, we identified SSOs targeting downstream 3′ splice site of exon 5 that favoured microexon inclusion in a dose-dependent manner and resulted in increased protein levels of AUTS2 and DIRK1A, two high-confidence ASD risk genes, targets of CPEB4, with reduced protein levels in ASD. These results deepen our understanding of the complex splicing regulation of microexons and open new applications of SSOs to treat diseases, such as ASD and SCZ, characterized by altered microexon inclusion.

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20. Meier C, Gunn G, Kenneson A. Genetic needs assessment of children with intellectual disability, developmental delay, hearing loss, and/or autism spectrum disorder. Pediatr Res. 2025.

BACKGROUND: Referral to genetics specialists plays a pivotal role in the diagnostic journey of pediatric patients with conditions such as autism spectrum disorder (ASD), developmental delay, intellectual disability, and hearing loss. Although there are referral guidelines in place from the American College of Medical Genetics and Genomics (ACMG), not all eligible children receive referrals. Among individuals with ASD, developmental delay, or intellectual disability, only about 20-50% of eligible patients are referred for genetic testing. Additionally, further barriers hinder those who are referred from accessing care. Our study delves into these often-overlooked barriers impeding pediatric patients’ access to genetics services. METHODS: We invited the parents of young children with one of the aforementioned conditions, identified through early intervention and related programs, including family-professional organizations, in South Carolina and Florida, to complete an online survey about referral to genetic services and barriers to attending a genetics consultation. RESULTS: Insurance coverage for genetic testing was a barrier both for referral to genetics and attendance at a genetics consultation. The child’s race was a predictor of attendance at a genetics consultation after referral. CONCLUSION: Our study highlights the critical need to address barriers, such as insurance coverage and racial disparities, that prevent pediatric patients from accessing genetics services. IMPACT: We investigated barriers to genetic services for pediatric patients who were not referred or who were referred but never attended, study populations that are under-represented in the literature. This study sheds light on key factors influencing referral to and attendance at genetics consultations for pediatric patients, including race and health insurance coverage for genetic testing. Our findings emphasize the need for genetics education and improved accessibility to genetics services.

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21. Merchie A, Ranty Z, Wardak C, Aguillon-Hernandez N, Bonnet-Brilhault F, Houy-Durand E, Aucouturier JJ, Gomot M. Vocal smile is recognized but not embodied in autistic adults. iScience. 2025; 28(11): 113858.

Autism spectrum disorder (ASD) is frequently characterized by atypical responses to emotional prosody and a lack of response to social smiles. This study examined whether autistic adults show motor resonance to vocal smiles, as reflected in facial muscle activity, when listening to emotional vocal cues. Facial electromyography was recorded while autistic and neurotypical adults listened to sentences spoken with smiling or neutral prosody and judged their emotional content. Both groups accurately recognized smiling prosody, indicating intact perceptual abilities in autism. However, only neurotypical participants showed enhanced zygomaticus activation in response to smiling voices, whereas autistic participants did not modulate facial muscle activity despite correct recognition. This dissociation between identification and motor reactivity suggests that autistic individuals can accurately recognize vocal emotions, but these are not embodied. These findings provide insights into the mechanisms that shape social engagement in ASD and may inform therapeutic approaches targeting emotional embodiment.

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22. Moore HL, Brice S, Spraggon N, Ingham B, Freeston M, Parr JR, Rodgers J. Exploring Alexithymia, Uncertainty, Anxious Arousal, and Social Anxiety as Mediators of the Relationship Between Sensory Processing Differences and Restricted and Repetitive Behaviors in Autistic Adults. Autism Res. 2025.

Restricted and repetitive behaviors (RRB) are associated with sensory processing (SP) differences for autistic people, and are thought to be a coping strategy to help manage the sensory environment. Previous work shows that, for autistic people, alexithymia, intolerance of uncertainty (IU), and anxiety mediate the relationship between SP differences and RRB. However, these studies use anxiety measures developed for the general population, and more recent evidence suggests that autistic people may have a different anxiety experience. This study aims to extend previous findings by unpacking the anxiety experience for autistic adults in the relationship between SP differences and RRB, using an autism-specific anxiety measure. Data were available from 426 autistic adults. Serial mediation models tested the relationship between SP differences and RRB, with alexithymia, IU, anxious arousal, and social anxiety as mediators. We identified significant direct effects from SP differences to both repetitive motor behaviors (RMB) and insistence on sameness behaviors (ISB). For RMB, we found indirect effects through anxious arousal, alexithymia-anxious arousal, IU-anxious arousal, and alexithymia-IU-anxious arousal. For ISB, we found indirect effects through IU and alexithymia-IU. Thus, different mechanisms may underpin RMB and ISB. Understanding the anxiety experience of autistic people, alongside the role of SP and RRB, is key to providing tailored support, adjustments, and psychological interventions to autistic people. Future research could benefit from directly investigating the impact of strategies to support SP and anxiety. Restricted and repetitive behaviors (RRB) are linked to sensory processing and are thought to be a coping strategy to help manage the sensory environment. Difficulties with emotions are associated with anxiety from the sensory environment. Repetitive motor behaviors (RMB) may help manage anxious arousal brought on by the sensory environment. Insistence on sameness behaviors (ISB) may help cope with intolerance of uncertainty brought on by the sensory environment. We should consider the sensory experience, anxiety experience, and coping strategies for these when offering support to autistic people. eng.

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23. Ni SY, Lu CC, Wu CT, Hsieh MH, Chen IM, Lin C, Lai FP, Chien YL. An exploratory study on predicting depressive symptoms in autistic individuals using wearable devices and machine learning. J Formos Med Assoc. 2025.

BACKGROUND: Monitoring depressive symptoms in autistic individuals is challenging due to conditions in communication and emotional expression inherent to this population. For early detection of depressive symptoms in autistic adults, this study aims to leverage digital biomarkers from wearable devices and develop monitoring models using machine learning algorithms. METHODS: This prospective, observational study recruited 17 autistic adults (mean age 29.1 ± 8.2 years). Physiological biomarkers, including activity level, heart rate, and sleep duration, were continuously collected via smartwatches. Depressive symptoms were self-rated weekly using the Beck Depression Inventory (BDI). Machine learning models, including Extreme Gradient Boosting (XGBoost), were applied to analyze the longitudinal data. The models were assessed using the area under the receiver operating characteristic curve (AUROC), sensitivity, specificity, accuracy, precision, and F1 score. Feature importance analysis was conducted to identify key digital biomarkers. RESULTS: The XGBoost model demonstrated superior predictive efficacy, identifying depressive states with an 84 % accuracy and an area under the receiver operating curve (AUROC) of 0.91. Lower activity levels, decreased sleep duration, and reduced average heart rate emerged as potential predictors for depressive states. CONCLUSION: Digital phenotypes derived from wearable devices may facilitate the detection of depressive symptoms in autistic adults, offering potential benefits for clinical assessments and emotion self-care.

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24. Taylor L. CDC website altered to suggest possible link between vaccines and autism. Bmj. 2025; 391: r2470.

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25. Totsika V, Gray KM, Solmi F. Exclusion and Truancy of Autistic Adolescents in a UK Population Representative Sample. Child Care Health Dev. 2025; 51(6): e70187.

BACKGROUND: Autistic students experience many problems with school attendance. School exclusion and truancy are among the least researched school attendance problems in this population. The study aimed to describe levels of exclusion and truancy in a UK population-representative sample of autistic adolescents and identify child, family and school factors associated with each school attendance problem. METHODS: Data were drawn from the Millennium Cohort Study where exclusion and truancy information was available for 460 autistic 14-year-olds. Descriptive statistics were used to report the weighted prevalence of exclusion and truancy. A bio-ecological framework guided the selection of available child, family and school factors potentially associated with exclusion and truancy for modelling. Univariable and multivariable logistic regression models were fitted to investigate associations. RESULTS: Twenty-five percent of autistic adolescents were temporarily or permanently excluded at least once. Fifteen percent of autistic adolescents reported truanting at least once. Externalising problems were strongly associated with higher odds of exclusion and truancy. The level of school support was strongly associated with higher odds of exclusion. There was weak evidence of an association between exclusion and low parental school engagement and between truancy and the absence of intellectual impairment. CONCLUSION: Poor mental health and in particular externalising difficulties seem to be strongly associated with a greater likelihood of parent-reported exclusion and adolescent-reported truancy. The role of school support and adaptation to the child’s needs warrants further investigation.

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26. Ünal D, Sarıköse Özgüven A. Exosomes: New Biomarker and Therapeutic Candidates in Autism Spectrum Disorder Research. Acta Neuropsychiatr. 2025: 1-47.

BACKGROUND: There is no recognized cure or specific biomarker for autism spectrum disorder (ASD). Exosomes are small vesicles that carry proteins, lipids, and nucleic acids. They have been investigated for diseases such as Parkinson’s and Alzheimer’s. As the conclusions were on the biological utility of exosomes as a non-invasive brain biopsy, some animal, human, and in vitro exosome studies have also been presented in the ASD field. The purpose of this review is to compile the studies that have established a relationship between ASD and exosomes so far and discuss their potential for linking the gap between the laboratory and clinic. METHODS: In this systematic review, 31 PubMed articles were identified using the keywords « exosomal, » « exosome, » and « autism spectrum disorder. » After excluding 16 reviews, 4 irrelevant studies, and 1 preprint, and adding 5 relevant articles, 15 research articles were included based on PRISMA criteria. The articles were investigated and reviewed by both authors. Their methodology and results are also discussed according to two main streams in studies. RESULTS: Numerous studies have identified potential biomarkers, including mitochondrial DNA (mtDNA7S), cytokines including IL-1β, TNF-α, and IL-6, and different types of RNAs by comparing the exosomal contents of ASD patients or models with controls. In studies that focused on treatment, behavioral improvements were shown in ASD model mice. CONCLUSION: Since there are presently no reliable biomarkers or effective treatments for ASD, exosome-based research offers a promising avenue for early diagnosis and the creation of tailored therapies.

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27. Xu J, Xu Y, Su W, Chen L, Wang Y, Li H. Clinical use of whole-genome sequencing in children with developmental delay or intellectual disability. BMC Med Genomics. 2025; 18(1): 188.

BACKGROUND: Determining the underlying cause of developmental delay or intellectual disability (DD/ID) is challenging yet crucial. Establishing a genetic basis for cases of unexplained DD/ID is integral to informing clinical decisions and anticipating patient outcomes. In this report, we share our institutional insights derived from employing whole-genome sequencing (WGS) to investigate unexplained DD/ID in pediatric populations. METHODS: A retrospective study was conducted on 115 children aged 1 month to 16 years with unexplained DD/ID who underwent WGS. We analyzed demographic profiles and catalogued genetic variants identified, in conjunction with examining clinical variables potentially associated with diagnostic yield. RESULTS: WGS data from 115 pediatric patients identified a total of 33 pathogenic or likely pathogenic single nucleotide variants and small insertions/deletions, of which 22 were classified as diagnostic cases and 11 as carriers. In addition, 11 pathogenic or likely pathogenic copy number variations were detected. Clinical attributes such as gender, age at diagnosis, gestational maturity, birth weight, perinatal complications (anoxia, jaundice), comorbid symptoms, hereditary background, neuromuscular function (muscle tone and strength), presence of epilepsy, neuroimaging, and electroencephalography patterns did not show a significant association with WGS findings. Nonetheless, a noteworthy association emerged between earlier age at diagnosis and increased diagnostic yield via WGS. CONCLUSIONS: WGS serves as a powerful tool for uncovering genetic etiologies in children with unexplained DD/ID, with meaningful implications for clinical care, genetic counseling for families, and long-term management planning.

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28. Zhang D, Zhou M, Qiu Y, Xu H, Liu H, Liu Y, Xie L. Cross-generational mechanisms of maternal gut microbiota in modulating offspring autism spectrum disorder risk: from the gut-brain axis to translational challenges in precision interventions. Front Aging Neurosci. 2025; 17: 1642240.

Autism Spectrum Disorder (ASD) manifests as a group of neurodevelopmental disorders with high clinical and genetic heterogeneity, characterized by core features including social communication deficits, repetitive behaviors, and restricted interests. Current research primarily focuses on genetic variations, immune dysregulation, synaptic dysfunction, and gene-environment interactions. Nowadays, accumulating evidence indicates that maternal gut microbiota dysbiosis, induced by high-fat diets, antibiotic overuse, and urbanization, significantly correlates with abnormal fetal neurodevelopment and increased ASD risk. This review systematically delineates three transplacental mechanisms whereby maternal dysbiosis regulates fetal neurodevelopment: Metabolite-mediated pathways, Immune pathway activation, and Epigenetic reprogramming. Meanwhile, the key translational challenges are highlighted. At last, metagenomics-metabolomics-fetal neuroimaging, Development of microbiota metabolite-treated brain organoids, and Artificial Intelligence-driven (AI-driven) probiotic screening were proposed as research directions in future.

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