1. Bashore L, Smith AM, Johnson AH, Farbo D. Gastrointestinal and Sleep Disorders in Children With and Without Autism. Gastroenterol Nurs. 2025; 48(5): 346-54.

This study aimed to describe a subgroup of children with autism, ages 3-17, referred for polysomnography, and the types and frequency of clinical encounters for gastrointestinal (GI) diagnoses that may contribute to sleep problems in a sample of children ages 3-17 with and without the diagnosis of autism; report gastrointestinal disorders and their associations with sleep disorders in this population; and report gastrointestinal disorders most predictive of sleep disorders in children with and without autism. The authors conducted a secondary data analysis of the de-identified Nationwide Children’s Hospital Sleep DataBank encounters with children referred for polysomnography. Descriptive statistics described a sample of 3053 unique participants (M = 7.26 years) between 2017 and 2019. In children with autism, gastrointestinal disorders were prevalent. Chi-square statistics revealed an association between having autism and sleep disorders. Outcomes of multiple regression revealed that constipation, diarrhea, and nausea/vomiting predicted sleep problems in children with autism greater than those in children without autism. Findings support the increased presence of co-occurring GI symptoms and sleep problems in children with autism and the need for sleep evaluation in children with gastrointestinal symptoms. Further investigation of the gut-brain interaction in children with autism is needed.

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2. Cahalan S, Mitroff SR, Subiaul F, Rosenblau G. Using the cognitive rigidity-flexibility dimension to deepen our understanding of the autism spectrum. Personal Neurosci. 2025; 8: e3.

Autism Spectrum Disorder (ASD) is defined as a unidimensional condition, and autism traits are measured on a continuum where the high end of the spectrum represents individuals likely to have an ASD diagnosis. However, the large heterogeneity of ASD has thrown this unidimensional conceptualization into question. With the exact underlying cause(s) of autism yet to be identified, there is a pressing need to establish core, underlying dimensions of ASD that can capture heterogeneity within the autism spectrum, thereby better specifying both autistic traits and ASD symptoms. Here we describe one important transdiagnostic dimension, the cognitive rigidity-flexibility dimension, that may impact autistic traits and symptoms across symptom-relevant cognitive domains. We first discuss how diminished cognitive flexibility manifests in core autistic traits and autism symptoms in perception, attention, learning, social cognition, and communication. We then propose to supplement assessments of autistic traits in the general population and autism symptoms in individuals with an ASD diagnosis with a comprehensive batter of cognitive flexibility measures in these symptom-relevant domains. We conjecture that systematic differences in domain-general versus domain-specific cognitive flexibility can distill subgroups within the autism phenotype. While we focus on the cognitive flexibility dimension here, we believe that it is important to extend this framework to other higher order dimensions that can capture core autism symptoms and transdiagnostic symptom severity. This approach can characterize the latent, multi-faceted structure of autism, thereby yielding greater precision in diagnostic classification and the creation of more targeted interventions.

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3. Delahanty MT, Engel S, Fallin D, Garcia T, Ladd-Acosta C, Steiner A, Wood M, Daniels JL. Periconceptional Hormonal Contraception Use and Autism Spectrum Disorder in the Study to Explore Early Development. Paediatr Perinat Epidemiol. 2025.

BACKGROUND: Prior studies report associations between periconceptional exposure to natural and synthetic oestrogen and progesterone and autism spectrum disorder (ASD). Hormonal contraception contains synthetic forms of one or both hormones. Although hormonal contraception is highly effective when consistently used, unintended pregnancy can occur with irregular use. Given the popularity of hormonal contraception, foetal exposure in utero is possible, yet the potential consequences are unknown. OBJECTIVES: We investigated the association between periconceptional hormonal contraception use and the development of ASD in offspring. METHODS: We analysed data from the Study to Explore Early Development (SEED), a population-based case-control study conducted in select US states, from 2007 to 2020. Children with and without ASD were identified from clinical/education sources and vital records, respectively, and enrolled at ages 2.5-5 years. We confirmed the ASD case status by in-person developmental assessment. We assessed hormonal contraception via a structured interview. We assessed the associations between ASD and hormonal contraception exposure separately for contraception discontinued in the 3 months prior to pregnancy and contraception continued during pregnancy using logistic models to estimate odds ratios (OR) adjusted for biological mother age, education, parity, pre-pregnancy body mass index (BMI), and presence of gynaecologic conditions and 95% confidence intervals (CI). RESULTS: Of 5210 participants, 9.9% reported discontinuing hormonal contraception use before pregnancy and 2.3% reported continuing use during pregnancy. A suggestive association was found between ASD and hormonal contraception use during pregnancy (aOR 1.38,95% CI 0.93, 2.05). There was no association with use prior to pregnancy (aOR 1.02, 95% CI 0.84, 1.25). CONCLUSIONS: Discontinuation of hormonal contraception prior to conception was not associated with ASD. The prevalence of hormonal contraception use during pregnancy was low. Results were imprecise and may be impacted by recall bias and unmeasured confounding by indication and health behaviours related to planning pregnancy.

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4. Fieldhouse R. Gestational diabetes linked to autism in study: what scientists say. Nature. 2025.

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5. Fogelström A, Skoglund C, Hagel E, Wester T, Löf Granström A, Mesas-Burgos C. Neurodevelopmental disorders in children with congenital abdominal wall defects: a national population-based study. Pediatr Surg Int. 2025; 41(1): 303.

PURPOSE: One in 4000 Swedish children is born with abdominal wall defect (AWD). Little is known about their neurodevelopmental trajectory and long-term morbidity. The aim was to determine the risk of neurodevelopmental disorders in children born with omphalocele or gastroschisis. METHODS: This was a population-based national cohort study including children born with omphalocele or gastroschisis in Sweden 1997-2016. Individuals with chromosomal abnormality were excluded. Ten age and sex-matched unexposed individuals were randomly selected for every AWD case. Main outcomes were autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). Data were collected from the national health registers. RESULTS: During the study period, 496 children were born with AWD and included in the exposed cohorts. The unexposed cohorts consisted of 4943 children. Neurodevelopmental diagnoses were found in 11 (6.1%) children with omphalocele and 15 (4.8%) children with gastroschisis compared to 63 (3.5%) and 113 (3.6%) in the unexposed cohorts (p = 0.096 and p = 0.275). Children with omphalocele had higher risk of ASD (HR = 3.51, 95% CI 1.59-7.78) than unexposed peers (p = 0.02). There was no significant difference in ADHD incidence. CONCLUSIONS: Children with AWD may have similar risk of ADHD as age- and sex-matched peers. While the omphalocele cohort had a higher incidence of ASD, the overall incidence remained relatively low. LEVEL OF EVIDENCE: II.

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6. Gao K, Riley LG, Raubenheimer J, Oliver KL, Wykes AD, Mentz J, Lee SJ, Pinner J, Cardamone M, Scheffer I, Gold WA. WWOX-Related Developmental and Epileptic Encephalopathy: Expanding the Clinical Spectrum and Deciphering the Genotype-Phenotype. Neurology. 2025; 105(6): e213883.

BACKGROUND AND OBJECTIVES: WWOX developmental and epileptic encephalopathy (WWOX-DEE), also known as WWOX-related epileptic encephalopathy, is characterized by drug-resistant epilepsy with onset within the first year of life and severe psychomotor developmental delay. The condition is poorly understood, posing significant challenges to clinical management and prognosis. This study investigated genotype and phenotype correlations of individuals with WWOX-DEE to inform clinical care. METHODS: Participants or guardians of the participants in the study were globally recruited through the WWOX Foundation where, after obtaining informed consent, questionnaires were completed for individuals with WWOX-DEE using Research Electronic Data Capture, providing clinical, demographic, and genetic information. Cases with genetically confirmed biallelic WWOX variants were included in the study. Genotypes were classified as either null/null, null/missense, or missense/missense, from which genotype-phenotype correlations were made using χ(2) analyses with the Fisher exact test. RESULTS: In this study, we have collected and analyzed data from 50 individuals with biallelic WWOX variants across 45 families, identifying 25 variants that have not been previously reported. The median age of the cohort was 2.5 years, with 46% being female. The most common reported clinical features were developmental delay (96%) and seizures (90%). Individuals classified with a null/null genotype (56.8%) were more likely to have hypertonia, seizures and respiratory complications compared with individuals with null/missense (29.5%) or missense/missense (13.6%) variant genotypes. DISCUSSION: Using information from the largest WWOX-DEE parent-reported survey, we demonstrate a higher risk of developing seizures, respiratory complications, and hypertonia in individuals with biallelic null WWOX variants. To ensure optimal care of individuals with this rare DEE, we recommend their genotype be considered during clinical management. Future studies should consider using long-term natural history studies and detailed medical records to enable deeper phenotyping of each patient.

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7. Graham F. Daily briefing: No strong evidence backs up Trump’s claims about Tylenol and autism. Nature. 2025.

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8. Haffey A, Hsu CT, Chakrabarti B. Autistic traits modulate neural and behavioral responses to social vs nonsocial rewards. Personal Neurosci. 2025; 8: e4.

Social rewards (e.g. smiles) powerfully shape human behavior, starting from early childhood. Yet, the neural architecture that enables differential processing of social and nonsocial rewards remains largely unknown. Few previous studies that directly compared social vs nonsocial stimuli have used stimuli that have low ecological validity or are not matched on low-level stimulus parameters – limiting the scope of inference. To address this gap in knowledge, social and nonsocial reward images taken from the real world were matched on valence, arousal, and key low-level stimulus properties and presented to 37 adults in a functional magnetic resonance imaging (fMRI) study. Individual self-reported preference for social images was associated with the functional connectivity between the left anterior insula (LAI) and medial orbitofrontal cortex (mOFC), as well as that between the left Fusiform Gyrus (LFG) and the Anterior Cingulate Cortex (ACC). Autistic traits negatively modulated LAI – mOFC connectivity and LFG – ACC connectivity. Reduced functional connectivity between these regions may contribute to the lower social reward responsivity in individuals with high autistic traits, as also noted from their lower valence ratings to social rewards. This study provides evidence for a new experimental paradigm to test social reward processing at a behavioral and neural level, which can contribute to potential transdiagnostic biomarkers for social cognitive processes.

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9. Harbers M, Wei Z, Nakao H, Abe Y, Goto M, Tamano M, Sakai Y, Shimizu K, Nakao K, Sugaya Y, Itoh K, Kano M, Aiba A. FMR1 mutant marmosets show fragile X syndrome phenotypes. Cell Rep. 2025; 44(9): 116208.

Fragile X syndrome (FXS) is the foremost monogenic cause of autism spectrum disorder and intellectual disability, caused by FMR1 gene silencing. Here, we report that common marmosets carrying FMR1 mutation, a non-human primate model for FXS, share common features in behavioral and molecular phenotypes with patients with FXS. Founder mutants with markedly reduced fragile X messenger ribonucleoprotein expression display hyperactivity, spontaneous seizures, and transcriptome changes in synapse-related genes that overlap with those reported in patients with FXS. Although spontaneous seizures in these mutants lead to postnatal lethality, the lethality is rescued by introducing mutations into the GRM5 gene, suggesting that elevated mGluR5 signaling contributes to the phenotype. F1 heterozygous females carrying a uniform mutation exhibit phenotypes associated with FXS, including alterations in vocal development and social preferences, electroencephalographic abnormalities, and impaired motor skills. Thus, female marmosets heterozygous for the FMR1 mutation represent a valuable translational model for investigating FXS mechanisms and potential therapeutic strategies.

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10. Jonkman KM, Back E, Begeer S, Staal WG, Scheeren AM. Brief Report: Parental Perceptions of Helpfulness of Support Services for Autistic Children. J Autism Dev Disord. 2025.

PURPOSE: This study explores parental perceptions of the helpfulness of support services for autistic children, including psychological and behavioural interventions, pharmacological interventions, and (practical) guidance services. METHODS: Parents of 210 children with autism (aged 16 or younger, mean age 12.1) filled in a survey about service use of their child and services’ perceived helpfulness. RESULTS: Early intensive behavioural interventions, such as Applied Behavior Analysis and Pivotal Response Treatment, as well as pharmacological treatments, like Aripiprazole, Risperidone and Methylphenidate, received high helpfulness ratings despite infrequent use. Conversely, guidance services, such as support for school or social relationships, were widely utilized but rated less helpful. CONCLUSION: Support services with evidence of impact on abilities, skills and irritability ranked high on perceived helpfulness, suggesting some alignment between perceived helpfulness and proven effectiveness of support services. Low helpfulness ratings for guidance services indicate the need for improvement, like tailoring programs to better meet the child’s needs. However, parental perceptions might not always match with the child’s own perspective. This study underscores the need to look beyond traditional outcome measures such as changes in autism-related characteristics. We should integrate the perspectives of autistic individuals and their families in the design and evaluation of support services.

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11. Kaşak M, Efe A, Çelik YS, Macit Ş S, Gökmen Ü B. Clinical and Sociodemographic Characteristics of Cases Diagnosed with Autism Spectrum Disorder at the Etlik City Multidisciplinary Child and Adolescent Mental Health Center (ÇÖZGEM). Eurasian J Med. 2025; 57(2): 1-9.

Background: Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by challenges in social interaction, communication, and the presence of restricted interests and repetitive behaviors. The increasing prevalence of ASD underscores the importance of early diagnosis and individualized interventions. This study investigates the sociodemographic and clinical characteristics of children aged 0-6 years diagnosed with ASD at the Etlik City Multidisciplinary Child and Adolescent Mental Health Center (ÇÖZGEM) and explores their healthcare journey from developmental delays to formal diagnosis. Methods: The medical records of 174 children evaluated at ÇÖZGEM between May and November 2024 were reviewed. Of these, 100 children diagnosed with ASD, with a mean age of 40.86 ± 16.92 months, were included. Multidisciplinary evaluations were conducted by specialists, including a child psychiatrist, clinical psychologist, and speech therapist. Results: Of the children diagnosed, 83% were boys and 17% were girls. Parents typically identified developmental concerns, focusing on language and social skill delays, at a mean age of 23.1 ± 10.94 months. The mean age at diagnosis was 31.54 ± 12.11 months, with an average delay of 8.44 ± 8.76 months between initial concern and diagnosis. After referral to ÇÖZGEM, the average waiting time for the first appointment was 18.21 ± 10.25 days, with diagnosis completed within 36.85 ± 19.8 days. Conclusion: This study highlights the importance of multidisciplinary teams in ASD diagnosis and intervention. Insights from ÇÖZGEM emphasize the need for parental awareness and streamlined healthcare pathways. Further studies with larger samples are necessary to validate these findings.

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12. Kelley HH, Aller TB. Transcendent Spirituality and Psychological Flexibility Among Adults on the Autism Spectrum in the United States. J Relig Health. 2025.

Using structural equation modeling to analyze two waves of longitudinal data from 306 adults on the autism spectrum in the USA, we assessed whether transcendent spirituality (feeling connected to a higher being) was associated with psychological flexibility (the ability to respond to uncomfortable internal sensations in a flexible, values-driven manner), psychological inflexibility, and satisfaction with life over a 10-week period. While we identified no significant associations between transcendent spirituality and psychological inflexibility, we found that spirituality was longitudinally associated with psychological flexibility and satisfaction with life. Psychological flexibility mediated the association between spirituality and satisfaction with life. Implications are offered.

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13. Ladhani Z, Rajan S. A Call to Action: Meeting the Needs of Autistic Adolescents with a history of Adverse Childhood Experiences. Am J Prev Med. 2025: 108125.

Autistic adolescents who have a history of adverse childhood experiences (ACEs) may face unique health, developmental, and learning challenges that require targeted support, care, and urgent attention. In this work, we highlight the prevalence of this issue in the United States (U.S.), the need for an interdisciplinary approach to addressing the unique needs of this population, and present a call to action for policymakers and key stakeholders to invest in trauma-informed care in schools. Specific gaps in research and intervention efforts are also presented.

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14. Lahiri S, Baman M, Huibonhoa RM, Ferns S. High-Density Mapping for AVNRT Ablation with Distorted Conduction System Anatomy Post-ASD Device Closure-Case Report. Indian Pacing Electrophysiol J. 2025.

BACKGROUND: Atrial septal defects (ASDs) are among the most common congenital heart defects, comprising about 10% of cases in children. Transcatheter closure of ASDs has become a preferred treatment due to its minimally invasive nature, quicker recovery, and reduced risk compared to surgical closure. Despite its advantages, the procedure carries a risk of post-procedural arrhythmias, particularly bradyarrhythmias and tachyarrhythmias, occurring in approximately 7-10% of patients. The development of these arrhythmias can be attributed to mechanical interference with conduction tissue or the formation of reentrant circuits around the closure device. These complications can present a challenge for long-term management and require careful monitoring and treatment. CASE SUMMARY: We describe the case of an 8-year-old female who presented with recurrent palpitations after transcatheter closure of two ASDs using a 25 mm Gore Cardioform device. Her initial procedure was uneventful, with complete closure of both defects confirmed by echocardiography. However, one month after the procedure, the patient began experiencing episodes of palpitations and dizziness. Electrocardiographic monitoring revealed regular narrow complex tachycardia, and she was referred for further evaluation. An electrophysiology study confirmed the presence of AV nodal reentrant tachycardia (AVNRT). Detailed mapping revealed significant anatomical distortion of the slow pathway region of the AV node due to proximity to the implanted closure device. Using high-density electroanatomical mapping (HD mapping), we were able to precisely identify the critical pathways for reentry and perform successful slow pathway ablation, eliminating the tachycardia without damaging the closure device or surrounding conduction tissue. The fluoroscopy time was 0.126 mins. DISCUSSION: This case highlights the potential complications that can arise following transcatheter ASD closure, particularly the development of arrhythmias like AVNRT. While arrhythmias following device closure are relatively rare, the mechanical interference caused by the device can result in structural changes to the heart’s conduction system, predisposing patients to arrhythmias. In this case, the proximity of the Gore Cardioform device to the slow pathway in the AV node likely contributed to the development of AVNRT, as the device caused localized distortion of the anatomy, facilitating reentrant circuit formation. This case emphasizes the importance of long-term follow-up and the need for advanced mapping techniques in patients undergoing ASD closure who develop post-procedure arrhythmias. High-density electroanatomical mapping, in particular, was essential in this patient, allowing for the precise localization of the arrhythmogenic substrate while avoiding unnecessary damage to the closure device or surrounding healthy tissue. The use of this advanced technology not only improves spatial resolution but also enhances procedural safety by reducing radiation exposure and optimizing outcomes, particularly in pediatric patients with complex congenital heart conditions. Additionally in redo ablations performed after prior procedures at outside centers, high-density mapping has proved valuable in distinguishing patchy low-voltage scar from true slow pathway potentials. This approach enables us to target the functional slow pathway while avoiding ablation of scar tissue. CONCLUSION: In conclusion, high-density mapping played a crucial role in managing this patient’s AVNRT, demonstrating its importance in addressing complex arrhythmias in patients with prior transcatheter ASD closure. Continued advancements in mapping technology will likely further improve the management of arrhythmias associated with congenital heart disease interventions.

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15. Ledford H. Trump team backs an unproven drug for autism – but does it work?. Nature. 2025.

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16. Lemée MV, Loviglio MN, Ye T, Tilly P, Keime C, Weber C, Petrova A, Klein P, Morlet B, Wendling O, Jacobs H, Tharreau M, Geneviève D, Godin JD, Romier C, Duteil D, Golzio C. Disrupted transcriptional networks regulated by CHD1L during neurodevelopment underlie the mirrored neuroanatomical and growth phenotypes of the 1q21.1 copy number variant. Nucleic Acids Res. 2025; 53(18).

Distal 1q21.1 deletions and duplications are associated with variable phenotypes including autism, head circumference and height defects. To elucidate which gene(s) are responsible for the 1q21.1 duplication/deletion-associated phenotypes, we performed gene manipulation in zebrafish and mice. We modeled 1q21.1 duplication by overexpressing the eight human protein-coding genes in zebrafish. We found that only overexpression of CHD1L led to macrocephaly and increased larval body length, whereas chd1l deletion caused opposite phenotypes. These mirrored phenotypes were also observed in mouse embryos. Transcriptomic, cistromic, and chromatin accessibility analyses of CHD1L knock-out hiPSC-derived neuronal progenitor cells revealed that CHD1L regulates the expression levels and chromatin accessibility of genes involved in neuronal differentiation and synaptogenesis, including autism genes. Moreover, we found that CHD1L favors telencephalon development during forebrain regionalization by facilitating chromatin accessibility to pioneer transcription factors, including SOX2 and OTX2, while simultaneously compacting chromatin through its interaction with the repressor NuRD complex. Overall, our data reveal a novel role for CHD1L as a master regulator of cell fate and its dosage imbalance contributes to the neuroanatomical and growth phenotypes associated with the 1q21.1 distal CNV. Chromosome segments can sometimes be lost or duplicated. One such region called 1q21.1 on chromosome 1 is linked to autism and differences in head size and growth. In zebrafish and mice, we found that CHD1L, located in the 1q21.1 region, affects these traits. Its overexpression caused larger heads and bodies, while loss of the gene caused smaller growth. In human neuronal progenitors and cerebral organoids, CHD1L was found to control genes important for brain development, cell fate decision and neuronal connectivity by altering how DNA is packed and accessed. This regulation helps guide early brain formation. Imbalanced levels of CHD1L may therefore explain the developmental and growth differences seen in individuals with 1q21.1 duplication or deletion. eng.

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17. Montaser J, Umeano L, Pujari HP, Nasiri SMZ, Parisapogu A, Shah A, Khan S. Correction: Correlations Between the Development of Social Anxiety and Individuals With Autism Spectrum Disorder: A Systematic Review. Cureus. 2025; 17(9): c311.

[This corrects the article DOI: 10.7759/cureus.44841.].

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18. Patwardhan A, Li S, Chen J, Choe KY. Three-dimensional quantification of oxytocin neurons in the hypothalamic paraventricular nucleus reveals sex- and subregion-specific differences in two genetic mouse models of autism. J Neuroendocrinol. 2025: e70092.

Oxytocin (OXT), a neuropeptide hormone essential to a wide range of social functions, has drawn increasing attention as a crucial contributor to the neurobiology of autism spectrum disorder (ASD). Central OXT system disruptions have been reported in several genetic mouse models of ASD; however, a detailed and systematic characterization of these phenotypes, and cross-model identification of shared and distinct features, are presently lacking. We integrated whole-brain OXT immunolabeling, SHIELD tissue clearing, light-sheet microscopy, and three-dimensional (3D) machine learning-based cell detection to establish a high-throughput, intact-tissue pipeline and quantified OXT immunopositive (OXT+) neurons across subregions of the paraventricular nucleus of the hypothalamus (PVN) in two genetic mouse models of ASD: Cntnap2 and Fmr1 knockout (KO) mice. We validated this pipeline alongside conventional immunohistochemistry using tissue sections. We show subregion- and sex-specific differences in PVN OXT+ cell counts in the two KO models. Notably, whole-PVN analysis revealed additional subregion- and sex-specific differences that were not evident in section-based quantification. These results identify subregion- and sex-specific differences in PVN OXT+ neuronal distribution as a shared phenotype in two genetic mouse models of ASD. This work highlights the importance of region-specific, high-resolution 3D approaches in intact tissue for quantifying cell populations within anatomically complex brain regions.

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19. Querido AL, Wingelaar TT. Assessing dive fitness in individuals with autism spectrum disorder. Diving Hyperb Med. 2025; 55(3): 220-7.

Scuba diving requires situational awareness, cognitive flexibility, and the ability to adapt to changing conditions. For individuals with autism spectrum disorder (ASD), these demands may pose unique challenges due to differences in executive functioning, sensory processing, and social cognition. This article explores the key considerations in assessing fitness to dive in individuals with ASD, including the impact of comorbidities, medication use, and cognitive abilities on diving safety. To provide a broader perspective, we examine research on ASD and high-risk activities such as driving, where similar cognitive and decision-making challenges exist. Additionally, we discuss the role of neuropsychological assessments in evaluating a diver’s cognitive fitness and the limited but emerging evidence on scuba diving interventions for individuals with ASD. While ASD is not an absolute contraindication to diving, a careful, individualised assessment is essential to determine suitability. This review aims to provide guidance for diving professionals and medical examiners in making informed decisions regarding ASD and scuba diving.

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20. Souski H, Benmakhlouf Y, Mechita MB. Clinical, Genetic and Molecular Divergences Between Full Mutation and Premutation in Fragile X Syndrome: A Systematic Review. Int J Dev Neurosci. 2025; 85(6): e70054.

BACKGROUND: Fragile X syndrome (FXS) is the most prevalent inherited form of intellectual disability (ID) and the primary monogenic cause of autism spectrum disorder (ASD) worldwide. The disorder arises from a CGG trinucleotide expansion of more than 200 repeats, known as a full mutation (FM) that occurs in the fragile X messenger ribonucleoprotein 1 (FMR1) gene locus at Xq27.3. This expansion induces hypermethylation of the gene’s promoter region, leading to epigenetic silencing and a consequent reduction in the expression of the FMR1 (FMRP)-a protein critical for synaptic plasticity and maturation. While the genetic basis of FXS is well established, further clarification is needed to understand how variations in the FMR1 gene lead to divergent clinical outcomes. This systematic review explores the differences in clinical features, genetic variations and molecular mechanisms between individuals with a FM, clinically diagnosed with FXS and premutation (PM) carriers with fragile X premutation-associated conditions (FXPAC), with a focus on implications for improving support for individuals with ID and their families. METHODS: Three databases (PubMed, Web of Science and Scopus) were systematically searched, guided by a variety of keywords, to identify qualitative, empirical research about clinical, genetic and molecular differences between FM and PM carriers. A total of 62 articles were examined, and 44 were included in the review. RESULTS: The information is presented in the following categories: clinical features, genetic variations, molecular mechanisms, diagnostics and treatments. Three primary themes are discussed: (1) variability in clinical manifestations, (2) genetic insights and diagnostic advancements and (3) current and emerging management strategies. Research gaps are also highlighted along with perspectives and implications for further research. CONCLUSION: The identification and treatment of FXS and FXPAC remains a major public health and clinical concern. This systematic literature review provides a more robust understanding of FXS and the clinical, genetic and molecular distinctions between FM and PM carriers. Despite growing knowledge of the condition, significant efforts are still required to refine diagnostic tools, develop targeted interventions and support individuals and families affected by FXS.

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21. Sun Q, Huang X, Long H, Guo J, Zhang R, Lu D, Yao H, Jiang K, Pi Y. Dysregulation of Glu/GABA and reduction of triglycerides contribute to valproic acid-induced autism model in zebrafish. J Lipid Res. 2025: 100911.

Autism spectrum disorders are neurodevelopmental conditions that pose substantial diagnostic and therapeutic challenges. Maternal exposure to valproic acid (VPA) during pregnancy is a well-established risk factor associated with autism-like behaviors in offspring. This study characterized the metabolic phenotypes in the brain tissue of larval zebrafish following VPA exposure. Zebrafish were exposed to 4 μM VPA from 2 hours post-fertilization (hpf) until 4.5 days post-fertilization (dpf), and locomotor activity was assessed at 14 dpf. Comprehensive metabolomic profiling via ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS/MS) identified 2,613 metabolites in brain tissue, of which 50 showed potential links to autism (CTRL_CV < 15%, VPA_CV < 20%). Significant reductions were observed in the levels of glutamine, glutamate, and triacylglycerol (TG). Nile red staining confirmed profoundly decreased TG deposition in the dorsal telencephalon (pallium), habenula, and cerebellum of VPA-exposed zebrafish. Furthermore, in vivo imaging revealed attenuated fluorescence intensity in excitatory glutamatergic and inhibitory GABAergic neurons within the habenular nucleus and optic tectum, corresponding to reduced TG levels. Conversely, the cerebellar corpus (central cerebellar body) and inferior olive nucleus exhibited an increase in excitatory glutamatergic neurons and a reduction in inhibitory GABAergic neurons, indicating an excitatory/inhibitory (E/I) imbalance. Collectively, these findings suggest that VPA may promote autism pathogenesis by disrupting the glutamine-glutamate cycle and impairing triacylglycerol metabolism in the zebrafish brain. These findings offer novel insights into metabolic dysfunction in ASD and may facilitate the identification of potential diagnostic biomarkers.

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22. Yoon CD, Alexander AL, Travers BG, Lainhart JE, Iii DCD. Widespread alterations in white matter microstructure in autism: A multilevel meta-analysis. Res Sq. 2025.

Background Disrupted brain connectivity is central to understanding the neurobiological basis of autism spectrum disorder (ASD). Diffusion tensor imaging (DTI) has been extensively used to study brain microstructure in ASD, which often reveals reduced fractional anisotropy (FA) and increased mean diffusivity (MD), indicating altered microstructural integrity. Methods We conducted a multivariate random-effects meta-analysis with a multilevel structure to evaluate the extent to which FA and MD measures of white matter microstructure are altered in individuals with ASD compared to typically developing (TD) individuals, as well as how participant characteristics and laterality moderate the magnitude of the estimated differences. Our analysis included 680 effect sizes from 59 studies ( N (ASD) = 1,750, N (TD) = 1,484; M (age) = 2-50 years) across 11 white matter tracts. Results We found a significant moderate summary effect size for FA in eight tracts (corpus callosum, corticospinal tract, thalamic radiation, arcuate fasciculus, inferior fronto-occipital fasciculus [IFOF], inferior longitudinal fasciculus [ILF], superior longitudinal fasciculus [SLF], and uncinate fasciculus; Hedges’ g = -0.40 to -0.59), suggesting that individuals with ASD have lower FA values in these tracts compared to TD controls. Additionally, we found a significant moderate-to-large summary effect size for MD in six tracts (corpus callosum, corona radiata, arcuate fasciculus, IFOF, ILF, and SLF; Hedges’ g  = 0.32 to 1.09), suggesting that individuals with ASD have higher MD values in these tracts compared to TD controls. Furthermore, moderators demonstrated tract- and metric-specific effects. Limitations: Participants were primarily male, and the age range excludes later adulthood when white matter deterioration becomes more evident. Therefore, our findings are limited in generalizing to females and may not be applicable across the entire lifespan. Conclusions Collectively, our findings highlight the complex and multidimensional nature of white matter alterations observed in ASD.

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