1. Allan NP, Torres A, Corley MJ, Yamamoto BY, Balaan C, Yamauchi Y, Peres R, Qin Y, Khadka VS, Deng Y, Ward MA, Maunakea AK. Pre-Conception Maternal Obesity Confers Autism Spectrum Disorder-like Behaviors in Mice Offspring Through Neuroepigenetic Dysregulation. Cells. 2025; 14(15).

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with early-life origins. Maternal obesity has been associated with increased ASD risk, yet the mechanisms and timing of susceptibility remain unclear. Using a mouse model combining in vitro fertilization (IVF) and embryo transfer, we separated the effects of pre-conception and gestational obesity. We found that maternal high fat diet (HFD) exposure prior to conception alone was sufficient to induce ASD-like behaviors in male offspring-including altered vocalizations, reduced sociability, and increased repetitive grooming-without anxiety-related changes. These phenotypes were absent in female offspring and those exposed only during gestation. Cortical transcriptome analysis revealed dysregulation and isoform shifts in genes implicated in ASD, including Homer1 and Zswim6. Whole-genome bisulfite sequencing of hippocampal tissue showed hypomethylation of an alternative Homer1 promoter, correlating with increased expression of the short isoform Homer1a, which is known to disrupt synaptic scaffolding. This pattern was specific to mice with ASD-like behaviors. Our findings show that pre-conceptional maternal obesity can lead to lasting, isoform-specific transcriptomic and epigenetic changes in the offspring’s brain. These results underscore the importance of maternal health before pregnancy as a critical and modifiable factor in ASD risk.

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2. Calì F, Virgillito M, Treccarichi S, Musumeci A, Failla P, Papa C, Galati Rando R, Federico C, Saccone S, Vinci M. ZNF496 as Candidate Gene for Neurodevelopmental Disorders: Identification of a Pathogenic De Novo Frameshift Variant. Int J Mol Sci. 2025; 26(15).

Zinc finger proteins are frequently implicated in a wide range of neurodevelopmental disorders (NDDs). In this study, we report a case of mild intellectual disability (ID), global developmental delay (GDD), and developmental coordination disorder (DCD) in an individual with unaffected parents. Trio-based whole-exome sequencing (WES) identified a de novo variant (c.1530dup, p.Glu511ArgfsTer16) in the ZNF496 gene of the proband. According to ACMG guidelines, this novel variant is classified as pathogenic. It creates a frameshift that introduces a premature stop codon, resulting in a truncated protein of 525 amino acids (compared to the wild-type 587 residues). Notably, NMDEscPredictor analysis predicted that the transcript escapes nonsense-mediated decay (NMD) despite the frameshift. Computational analyses suggest the potential pathogenetic effects of the identified variant. As documented, ZNF496 interacts with JARID2, a gene associated with NDDs, ID and facial dysmorphism (MIM: #620098). In silico analyses suggest that the identified mutation disrupts this interaction by deleting ZNF496’s C2H2 domain, potentially dysregulating JARID2 target genes. To our knowledge, this is the first reported association between ZNF496 and NDDs, and the variant has been submitted to the ClinVar database (SCV006100880). Functional studies are imperative to validate ZNF496’s role in NDDs and confirm the mutation’s impact on ZNF496-JARID2 interactions.

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3. Charalampopoulou M, Ibrahim A, Prime H, Eddy N, Panetta L, Brown H, Desai S, Gray K, Lai MC, Langdon PE, Lunsky Y, McMorris C, Ritvo P, Tilleczek K, Tint A, Weiss JA. « It fostered a greater appreciation for my little corner of the world »: A feasibility study of a therapeutic photography intervention for the well-being of autistic youth. Autism. 2025: 13623613251359196.

Research and intervention efforts for autistic people have disproportionately focused on negative mental health. This has resulted in a shortage of interventions addressing the promotion of positive emotional (hedonic) and psychological (eudaimonic) states. Therapeutic photography, which refers to self-initiated photo-taking paired with mindful reflections of the photographs, has the potential to provide an accessible and scalable approach to promote positive mental health for autistic people. This study employed a mixed-methods design to investigate the development and feasibility of a novel therapeutic photography intervention intended to promote hedonic and eudaimonic well-being among autistic youth. Forty-one autistic youth between 16 and 25 years of age were recruited. Findings indicated that therapeutic photography was a feasible intervention in terms of demand, implementation, acceptability, and practicality. There was also preliminary evidence suggesting that therapeutic photography may be a promising intervention for the promotion of different aspects of hedonic and eudaimonic well-being. Suggestions for future intervention adaptations to better address the needs of autistic youth are also featured.Lay AbstractUsing Photography to Increase the Well-Being in Autistic YouthPast research has mostly focused on the challenges and negative mental health experiences of autistic young people, leading to a lack of strategies aimed at increasing positive emotions and experiences. To address this gap in the literature, we developed a therapeutic photography intervention that aimed to increase positive aspects of well-being for autistic youth. With the help of two autistic advisors, we recruited 41 autistic people, between the ages of 16 and 25 years, and asked them to take photos of positive experiences and write short reflections about their photos, for the duration of 4 weeks. We then asked participants about the benefits and challenges of the intervention. We also asked participants about any challenges they had in engaging with therapeutic photography and any changes and additional supports they would recommend for the intervention. Our results showed that autistic young people found the intervention to be interesting, doable, acceptable, and practical. We also found some evidence for the potential benefits of the intervention for the well-being of autistic youth. Participants had different ideas for adapting the design of the intervention to better meet the needs of autistic youth in the future.

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4. Cuddapah VA, Chen D, Cho B, Moore R, Suri M, Safraou H, Tran-Mau-Them F, Wilson A, Odgis J, Rehman AU, Saunders C, Ganesan S, Jobanputra V, Scherer SW, Helbig I, Sehgal A. Rare variants in BMAL1 are associated with a neurodevelopmental syndrome. Proc Natl Acad Sci U S A. 2025; 122(31): e2427085122.

Through international gene-matching efforts, we identified 10 individuals with ultrarare heterozygous variants, including 5 de novo variants, in BMAL1, a core component of the molecular clock. Instead of an isolated circadian phenotype seen with disease-causing variants in other molecular clock genes, all individuals carrying BMAL1 variants surprisingly share a clinical syndrome manifest as developmental delay and autism spectrum disorder, with variably penetrant sleep disturbances, seizures, and marfanoid habitus. Variants were functionally tested in cultured cells using a Per2-promoter driven luciferase reporter and revealed both loss-of-function and gain-of-function changes in circadian rhythms. The tested BMAL1 variants disrupted PER2 mRNA cycling, but did not cause significant shifts in cellular localization or binding with CLOCK. Conserved variants were further tested in Drosophila, which confirmed variant-dependent effects on behavioral rhythms. Remarkably, flies expressing variant cycle, the ortholog of BMAL1, also demonstrated deficits in short- and long-term memory, reminiscent of the highly prevalent developmental delay observed in our cohort. We suggest that ultrarare variants in the BMAL1 core clock gene contribute to a neurodevelopmental disorder.

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5. Darrell M, Vanneau T, Cregin D, Lecaj T, Foxe JJ, Molholm S. Testing the auditory steady-state response (ASSR) to 40-Hz and 27-Hz click trains in children with autism spectrum disorder and their first-degree biological relatives: A high-density electroencephalographic (EEG) study. bioRxiv. 2025.

MOTIVATION: Altered auditory processing likely contributes to core social and attentional impairments in autism spectrum disorder (ASD). The auditory steady-state response (ASSR)- a neural measure of auditory processing and cortical excitatory-inhibitory balance-has yielded mixed results in ASD. This study uses high density electroencephalography (EEG) to evaluate ASSR in ASD and unaffected siblings to clarify neural mechanisms underlying auditory deficits in autism. METHODS: High-density 70-channel EEG was recorded in children (8-12 years, IQ >80) with ASD (n=53), typically developing (TD) peers (n=35), and unaffected biological siblings (n=26) during 500-ms binaural click trains (27- and 40-Hz) in an active oddball task. RESULTS: No group differences were observed in frequency-following responses (FFR) to 27- or 40-Hz stimuli, although higher 40-Hz power was associated with older age and better behavioral performance in ASD. The broad-band response from 180-250 ms was reduced in ASD for both stimulation frequencies-particularly in the low-frequency (<8 Hz) range-and significantly correlated with IQ and age. Siblings showed intermediate broad-band responses. DISCUSSION: While FFRs appeared intact in ASD, we observed reduced broad-band response in the transition period to the steady state FFR, which was specific to low (<8-Hz) frequencies-potentially reflecting reduced synchronization at timescales that correspond with slower, syllabic rhythms (~4-8 Hz) occurring in natural speech. Intermediate responses in first-degree relatives suggest that this is related to genetic vulnerability for ASD and highlights its clinical relevance. These findings suggest intact sensory processing in ASD alongside possible top-down auditory feedback deficits, which may serve as heritable neurophysiological markers.

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6. Delmas C, Wang XX, Pelloux AS, Caeymaex L, Bouaziz N, Aegerter P, Jung C. Effectiveness of early detection and coordinated referral of infants before 1 year at risk for autism spectrum and neurodevelopmental disorders in maternal and child protection centre: a French randomised pragmatic trial in a stepped-wedge trial (PRECO-TSA protocol). BMJ Open. 2025; 15(8): e094729.

INTRODUCTION: Autism and neurodevelopmental disorders (NDDs) are complex conditions that manifest as significant impairments in social communication and behaviour. Early detection and intervention play a pivotal role in improving outcomes, largely due to the high brain plasticity in infants. The PRECO-TSA study aims to validate the effectiveness of systematic use of the Prévention de l’Autisme (PREAUT) grid for early screening and referral strategies for autism and NDDs in infants, focusing on a coordinated approach that integrates maternal and child protection centre with medical-psychological centres. The goal is to evaluate a streamlined referral system to improve early detection and facilitate effective interventions for children at higher risk of autism. METHODS AND ANALYSIS: The PRECO-TSA study is a prospective, pragmatic, multicentre, cluster-randomised controlled trial using an incomplete stepped-wedge design, which maximises external validity. The study includes a 6-month baseline phase, a 3-month semiobservation phase and a 6-month follow-up phase. The 36-month patient inclusion period is followed by a 48-month passive follow-up through the National Health Data System, data collection includes demographic and clinical information, with hierarchical mixed models used to analyse the impact of early screening and referral for autism and NDDs. ETHICS AND DISSEMINATION: This study was funded by the French Ministry of Health (PREPS-20-0186) and was approved by Ile de France I Ethics Committee CPP (number CPPIDF1-2023-DI29-Cat2). The results will be submitted for publication in peer-reviewed journals. TRIAL REGISTRATION NUMBER: NCT05815095.

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7. Du X, Su X, Ding D, Zhu Y, Sun Y, Wang M, Xiao Y, Xu H. Relationship between family functioning and affiliate stigma in parents of children with autism spectrum disorder in China: the mediating role of positive aspects of caregiving. Front Psychiatry. 2025; 16: 1613340.

OBJECTIVE: The present research was conducted to examine whether family functioning is related to affiliate stigma in Chinese caregivers of children with autism spectrum disorder (ASD) and how positive aspects of caregiving affect this relationship. METHODS: Two hundred and six caregivers of children with ASD were investigated using the Family APGAR scale, the Affiliate Stigma scale, and the Chinese version of the Positive Aspects of Caregiving scale. The statistical methods of Pearson correlation analysis and mediation effect analysis were used to statistically analyze the relationship between family functioning, affiliate stigma and positive aspects of caregiving. RESULTS: The results indicated that family functioning and positive aspects of caregiving were negatively associated with affiliate stigma and that family functioning was positively correlated with positive aspects of caregiving. Furthermore, positive aspects of caregiving partially mediated family functioning and affiliate stigma. CONCLUSION: These findings suggest that family functioning can directly influence the affiliate stigma of caregivers of children with ASD and indirectly influence affiliate stigma through positive aspects of caregiving.

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8. Fan XR, He Y, Wang YS, Li L, Duan X, Zuo XN. Profiling brain morphology for autism spectrum disorder with two cross-culture large-scale consortia. Commun Biol. 2025; 8(1): 1157.

We explore neurodevelopmental heterogeneity in Autism Spectrum Disorder (ASD) through normative modeling of cross-cultural cohorts. By leveraging large-scale datasets from Autism Brain Imaging Data Exchange (ABIDE) and China Autism Brain Imaging Consortium (CABIC), our model identifies two ASD subgroups with distinct brain morphological abnormalities: subgroup « L » is characterized by generally smaller brain region volumes and higher rates of abnormality, while subgroup « H » exhibits larger volumes with less pronounced deviations in specific areas. Key areas, such as the isthmus cingulate and transverse temporal gyrus, were identified as critical for subgroup differentiation and ASD trait correlations. In subgroup H, the regional volume of the isthmus cingulate cortex showed a direct correlation with individuals’ autistic mannerisms, potentially corresponding to its slower post-peak volumetric declines during development. These findings offer insights into the biological mechanisms underlying ASD and support the advancement of subgroup-driven precision clinical practices.

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9. Gernert CC, Falter-Wagner CM, Noreika V, Jachs B, Jassim N, Gibbs K, Streicher J, Betts H, Bekinschtein TA. Correction: Stress in autism (STREAM): A study protocol on the role of circadian activity, sleep quality and sensory reactivity. PLoS One. 2025; 20(8): e0329798.

[This corrects the article DOI: 10.1371/journal.pone.0303209.].

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10. Hirn E, Huppke B, Wilken B, Kiehntopf M, Huppke P. Rett Syndrome: Specific MECP2 Variants are Associated With Elevated Serum Neurofilament Light Chain. Pediatr Neurol. 2025; 172: 1-7.

BACKGROUND: Rett syndrome, a neurodevelopmental disorder predominantly affecting females, is caused by variants in MECP2. Individuals experience a decline in skills, particularly involving language and hand function; nevertheless, studies of brain pathology suggest that neurodegeneration is not involved. To further investigate the presence of neurodegeneration, we measured serum neurofilament light chain (sNfL), a sensitive biomarker of neuronal damage. METHODS: Cross-sectional study performed in a cohort of Rett syndrome females with a confirmed pathogenic MECP2 variant. sNfL levels were measured using single-molecule array assay, converted to an age-adjusted z-score, and compared with MECP2 variant type and clinical characteristics. RESULTS: Included were 77 patients; mean age 14 years, median sNfL level 6.8 pg/mL. sNfL z-scores were higher in the Rett cohort compared to healthy age-matched females (P < 0.001). Elevated sNfL levels were associated with pathogenic variant type; only patients carrying variants affecting the nuclear receptor corepressor interaction domain had elevated sNfL z-scores (P < 0.001) greater than healthy age-matched females, while those with C-terminal deletions or missense variants outside this domain did not. Consistently, patients unable to walk independently and without residual hand function had higher sNfL levels than patients with residual function in these respective areas (P = 0.04). CONCLUSIONS: sNfL levels were elevated in our Rett syndrome cohort, irrespective of age, indicating ongoing neuronal damage. However, on closer inspection, this finding was true only for a subset of patients with more severe pathogenic variants affecting the nuclear receptor corepressor interaction domain. sNfL may prove a useful biomarker in upcoming therapeutic trials.

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11. Hua Z, Li T, Shi R, Wei R, Yi L. Prediction efficiency and incremental processing strategy during spoken language comprehension in autistic children: an eye-tracking study. Mol Autism. 2025; 16(1): 39.

BACKGROUND: Language difficulties are common in autism, with several theoretical perspectives proposing that difficulties in forming and updating predictions may underlie the cognitive profile of autism. However, research examining prediction in the language domain among autistic children remains limited, with inconsistent findings regarding prediction efficiency and insufficient investigation of how autistic children incrementally integrate multiple semantic elements during language processing. This study addresses these gaps by investigating both prediction efficiency and incremental processing strategy during spoken language comprehension in autistic children compared to neurotypical peers. METHODS: Using the visual world paradigm, we compared 45 autistic children (3-8 years) with 52 age-, gender-, and verbal IQ-matched neurotypical children. Participants viewed arrays containing a target object and three semantically controlled distractors (agent-related, action-related, and unrelated) while listening to subject-verb-object structured sentences. Eye movements were recorded to analyze fixation proportions. We employed cluster-based permutation analysis to identify periods of sustained biased looking, growth curve analysis to compare fixation trajectories, and divergence point analysis to determine the onset timing of predictive looking. RESULTS: Both groups demonstrated predictions during spoken language comprehension and employed similar incremental processing strategies, showing increased fixations to both target objects and action-related distractors after verb onset despite the latter’s incompatibility with the agent. However, autistic children exhibited reduced prediction efficiency compared to neurotypical peers, evidenced by significantly lower proportions of and slower growth rates in fixations to target objects relative to unrelated distractors, and delayed onset of predictive looking. Reduced prediction efficiency was associated with higher levels of autism symptom severity in the autistic group and increased autistic traits across both groups, with autism-related communication difficulties showing the most robust associations. LIMITATIONS: Our sample included only autistic children without language impairments, limiting generalizability to the broader autism spectrum. The task employed only simple sentence structures in controlled experimental settings, which may not fully capture language processing patterns in naturalistic communication contexts. CONCLUSIONS: While autistic children employ similar incremental processing strategies to neurotypical peers during language comprehension, they demonstrate reduced prediction efficiency. Autism symptom severity and autistic traits varied systematically with prediction efficiency, with autism-related communication difficulties showing the strongest associations. These findings enhance our understanding of language processing mechanisms in autism and suggest that interventions targeting language development might benefit from addressing prediction efficiency, such as providing additional processing time and gradually increasing the complexity of semantic integration tasks.

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12. Indika NR, Senarathne UD, Anandavadivel S, Senevirathne BS, Karunathilaka S, Dushmantha WKT, Abeysundara PA, Ekanayake S. Exploring the therapeutic potential of Bacopa monnieri in autism spectrum disorder: A comprehensive review. Fitoterapia. 2025; 186: 106788.

Bacopa monnieri is a traditional medicinal herb renowned for its nootropic properties. The plant extracts have been evaluated for its efficacy in addressing many neurological conditions. However, the efficacy of Bacopa monnieri is yet to be evaluated for autism spectrum disorder (ASD). This review explores and aligns the underlying pathogenic mechanisms in ASD with the molecular and functional characteristics of Bacopa monnieri to evaluate its potential as a therapy in ASD. Additionally, the review addresses strategies for overcoming its drawbacks due to heavy metal accumulation and bitter taste. A comprehensive literature search was conducted in PubMed and Google Scholar using specific keywords related to Bacopa monnieri (« Bacopa monniera, » « B. monnieri, » « Herpestis monniera, » « Moniera cuneifolia ») and those related to ASD, its co-occurring symptoms, and pathogenic mechanisms. Papers were chosen based on an initial screening process, and the evidence was narrated under identified key themes to provide a structured analysis of the therapeutic potential and mechanisms of action of Bacopa monnieri in ASD. Evidence indicated that oxidative stress, neuroinflammation, heavy metal toxicity, mitochondrial dysfunction, neurotransmitter imbalance, and altered cell signaling in ASD could be targeted by the molecular and functional characteristics of Bacopa monnieri, corroborating the potential of Bacopa monnieri to improve symptoms and co-occurring conditions in ASD. To validate these effects, clinical trials should assess primary outcomes related to the core symptoms of ASD, as well as secondary outcomes that focus on improvements in co-occurring conditions and metabolic alterations.

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13. Kaganoi S, Sawada K, Sota S, Nagano S, Takahashi H, Kazui H. Impairments in the sense of self in children with autism spectrum disorder. Psychiatry Res. 2025; 352: 116668.

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental condition involving social-communication difficulties and restricted, repetitive behaviors. Beyond these features, children with ASD often experience atypical sensory processing and motor coordination challenges. These sensorimotor differences may disrupt the embodied sense of self-the experience of agency, ownership, and narrative identity. Few studies have examined how these factors interact in children. Clarifying this relationship may inform interventions aimed at improving self-awareness and daily functioning. METHODS: We assessed 22 children with ASD and 25 typically developing (TD) children using three measures: the Embodied Sense of Self Scale (ESSS), evaluating Agency, Ownership, and Narrative Self; the Sensory Profile (SP), assessing sensory processing patterns; and a visually guided reaching task measuring motor accuracy with and without visual feedback. Group differences and correlations among these measures were analyzed to explore associations between sensory, motor, and self-related functions. RESULTS: Children with ASD scored significantly higher on all ESSS subscales, indicating greater difficulties in embodied self-awareness. They also showed elevated SP scores and greater reaching errors in the absence of visual feedback. In TD children, ESSS subscales showed large intercorrelations (r > 0.55), suggesting integrated self-awareness. In contrast, children with ASD showed only one large correlation between Ownership and Narrative Self (r = 0.57), indicating a fragmented self-concept. CONCLUSIONS: Children with ASD exhibit distinct patterns of sensorimotor processing and self-representation compared to TD peers. Interventions that target sensory modulation and self-integration may improve outcomes. Further research is needed to validate child-appropriate self-awareness measures and examine developmental changes over time.

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14. Khalil A, Yatcilla J, Christie N, Zhou X. A Systematic Review of Help-Seeking Barriers for Racial-Ethnic Minority Caregivers Accessing Autism Diagnostic and Intervention Services. J Racial Ethn Health Disparities. 2025.

Caregivers play an essential role in early help-seeking and intervention for children with Autism Spectrum Disorder (ASD). Caregivers, therefore, provide a crucial role in helping to address the racial and ethnic disparity identified in accessing ASD intervention and diagnostic services (Bejarano-Martín et al., Journal of Autism and Developmental Disorders 50(9), 3380-3394, 2020). Unfortunately, racial-ethnic minority caregivers of children with autism (CCA) are less likely to contact a physician or healthcare professionals about their concerns and more likely to delay their contact to have their child evaluated (Zeleke et al., Journal of Autism and Developmental Disorders 49(10), 4320-4331, 2019). However, little evidence exists to explain why such a gap exists in the help-seeking behaviors between White and racial-ethnic minority CCA. To address this knowledge gap, we conducted a systematic literature review to identify articles that have studied barriers in help-seeking for racial-ethnic minority CCA. A broad literature search across four databases was conducted (i.e., PubMed, PsycINFO, Education Resources Information Center, and Child Development and Adolescent Studies). The coding team identified 17 articles on help-seeking barriers for racial-ethnic minority CCA. A thematic analysis was used to narratively synthesize the help-seeking barriers identified across these 17 studies. Four themes emerged from our findings: logistical barriers, provider competence, ASD literacy, and cultural stigma. We also provided clinical recommendations for healthcare providers working with families with racial-ethnic minority CCA.

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15. Khound M, Kaushik JS, Nath A, Das BK, Das D, Goswami G, Sharma D. Validation of Assamese Version of Rashtriya Bal Swasthya Karyakram (RBSK) Tool for Early Detection of Developmental Delay and Autism Spectrum Disorder. Indian Pediatr. 2025; 62(9): 686-91.

OBJECTIVE: To develop and validate the Assamese version of the Rashtriya Bal Swasthya Karyakram (RBSK) screening tool for developmental delay (1-72 months) and autism (15-24 months) and to assess its diagnostic accuracy in comparison with the Developmental Profile-3 (DP-3) and the All India Institute of Medical Sciences (AIIMS)-Modified INCLEN Diagnostic Tool for autism spectrum disorder (INDT-ASD). METHODS: A cross-sectional study was conducted from January to December 2024 at a tertiary care hospital in India. The RBSK screening tool for developmental delay and autism was translated into Assamese through a standardized process involving forward translation, back-translation, expert review, and pilot testing (n = 10). Children aged 1-72 months were recruited from the outpatient department. Developmental delay was assessed using the Developmental Profile-3 (DP-3) and ASD in children aged 15-24 months using the AIIMS-Modified INCLEN Diagnostic Tool for Autism Spectrum Disorder (INDT-ASD) tool. Diagnostic accuracy was assessed by calculating sensitivity, specificity, positive and negative predictive values, Cohen’s kappa statistic, and area under receiver operating characteristic (AUROC) curves. RESULTS: A total of 139 children with mean (SD) age 30.5 (12.2 months) were enrolled. The Assamese version of the RBSK screening tool demonstrated a sensitivity and specificity of 94.1% and 84.9%, respectively, for developmental delay, and 89.5% and 93.8%, respectively, for ASD. Agreement with reference tools was high (Cohen’s kappa = 0.85 for DP-3, 0.83 for AIIMS-Modified INDT-ASD). The tool showed excellent discriminative performance with AUROC (95%CI) of 0.94 (0.89, 0.98) for developmental delay and 0.92 (0.85, 0.98) for ASD. CONCLUSION: The validated Assamese version of the RBSK screening tool for developmental delay and autism is an accurate screening tool in Assamese-speaking population.

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16. Lee J, Jung YM, Wi WY, Bae J, Park JS, Jun JK, Oh MJ, Lee SM, Cho GJ. Long-Term Neurodevelopmental Outcomes After Antenatal Corticosteroid Therapy in Late Preterm Twins: A Nationwide Retrospective Cohort Study. J Korean Med Sci. 2025; 40(30): e174.

BACKGROUND: In women with singleton pregnancy who are at risk of late preterm delivery, administration of antenatal corticosteroids is recommended to reduce neonatal respiratory complications. However, the adoption of this practice is not widely accepted in twin pregnancies because of a lack of evidence regarding both the effectiveness and long-term safety of corticosteroids. This study was conducted to evaluate the long-term neurodevelopmental outcomes of twins according to the administration of antenatal corticosteroid in late preterm. METHODS: This nationwide population based retrospective cohort study included twins who were delivered late preterm (34+0-36+6 weeks) between 2007 and 2010. The study population were divided into 2 groups according to the administration of preterm antenatal corticosteroids. Group 1 included twins from mothers who were administered antenatal corticosteroids in late preterm (with late preterm corticosteroids), and group 2 included twins whose mothers were not administered antenatal corticosteroid (without corticosteroids). The risk of long-term adverse neurodevelopmental outcomes was compared between the 2 groups. The composite adverse neurodevelopmental outcome was defined as the occurrence of at least one of the following: autism, cerebral palsy, speech articulation disorder, developmental disorders of scholastic skills, or developmental disorders of motor function. RESULTS: During the study period, 9,450 children met the inclusion criteria: 1,476 children in group 1 (with late preterm corticosteroids) and 7,974 children in group 2 (without corticosteroids). There was no statistically significant difference in the long-term adverse neurodevelopmental outcomes between the 2 groups. This result was consistent even after adjusting for covariates (adjusted hazard ratio 0.973 [95% confidence interval, 0.811-1.166]). CONCLUSION: The risk of long-term adverse neurodevelopmental outcomes did not increase after antenatal corticosteroid administration in twin children who were born in late preterm.

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17. Liu S, Yang Q, Zhu P, Liu X, Lu Q, Yang J, Gao J, Han H, Zhang Z, Gu N, Tan T, Sun J. Precise Magnetic Stimulation of the Paraventricular Nucleus Improves Sociability in a Mouse Model of ASD. Neurosci Bull. 2025.

Magnetic stimulation has made significant strides in the treatment of psychiatric disorders. Nonetheless, current magnetic stimulation techniques lack the precision to accurately modulate specific nuclei and cannot realize deep brain magnetic stimulation. To address this, we utilized superparamagnetic iron oxide nanoparticles as mediators to achieve precise targeting and penetration. We investigated the effects of magnetic fields with varying frequencies on neuronal activity and compared the activation effects on neurons using a 10-Hz precise magneto-stimulation system (pMSS) with repetitive transcranial magnetic stimulation in mice. Oxytocin levels, dendritic morphology and density, and mouse behavior were measured before and after pMSS intervention. Our findings suggest that pMSS can activate oxytocinergic neurons, leading to upregulation of oxytocin secretion and neurite outgrowth. As a result, sociability was rapidly improved after a one-week pMSS treatment regimen. These results demonstrate a promising magneto-stimulation method for regulating neuronal activity in deep brain nuclei and provide a promising therapeutic approach for autism spectrum disorder.

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18. Loos E, Gerdsen M, Hazen M, Cushing SL, Gordon KA, Perez-Fornos A, Verhaert N, Desloovere C, Van de Berg R, Widdershoven J. Bilateral vestibular hypofunction in children. Int J Pediatr Otorhinolaryngol. 2025; 196: 112506.

BACKGROUND: Vestibular hypofunction in children can lead to frequent falls and delayed motor development. Especially children with bilateral vestibular hypofunction (BVH) are most at risk for developing symptoms. These children might benefit from future therapies, like vestibular implants, to restore their vestibular system. This study aimed to describe the prevalence, etiology, motor development, and hearing status of pediatric patients with BVH. METHODS: A multicenter retrospective chart review of 492 children with sensorineural hearing loss was performed. Children with at least one bilaterally abnormal vestibular test were defined as having a BVH. RESULTS: BVH was found in 23 % of the screened children. Especially children with syndromic hearing loss like Usher, CHARGE, or Waardenburg syndrome and infectious etiologies like congenital CMV and meningitis, were prone to have BVH on all performed tests. Children with BVH had a high percentage of motor developmental delay (81 %), especially if all tests were abnormal on both sides (97 %). CONCLUSION: It is recommended to perform vestibular screening in children with sensorineural hearing loss, as BVH is prevalent. BVH has a very high risk of causing a delay in motor development. Especially in children with BVH on all vestibular tests, motor development is impaired. Those children might benefit from vestibular implants in the future.

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19. Mahé O, Morel-Kohlmeyer S, Briend F, Houy-Durand E. Predictors of Psychotropic Medication Use Among Autistic Adults. J Autism Dev Disord. 2025.

PURPOSE: No psychotropic treatment has recognized effects on the core clinical signs of autism. In this retrospective study, we sought to identify predictors of psychotropic medication in autistic adults among demographic, diagnostic and functional clinical factors. METHODS: A total of 391 records of adults (28.2 ± 9.6 years) from the Centre de Ressources Autisme Centre Val de Loire were included. Participants were divided into three groups: those with Autism Spectrum Disorder (ASD) (n = 129), those with Intellectual and Developmental Disabilities (IDD) (n = 48), and those with both diagnoses (ASD + IDD) (n = 214). Multinomial logistic regression analyses were performed to assess factors associated with psychotropic pharmacotherapy in autistic adults. RESULTS: 17% of autistic adults without IDD and 44.9% of autistic adults with IDD were prescribed multiple psychotropic medications. The first regression analysis showed that the likelihood of psychotropic polypharmacotherapy increases with age, epilepsy and severe externalizing behavior disorders. Anxiety disorders were associated with psychotropic monopharmacotherapy and mood disorders were a significant predictor to both mono and polypharmacotherapy. The second regression analysis highlighted that IDD is an explanatory factor for psychotropic polypharmacotherapy and ASD + IDD is predictive for both mono and polypharmacotherapy. Adults with ASD + IDD are prescribed more psychotropic medication than those with ASD alone, particularly antiepileptics, benzodiazepines and neuroleptics. CONCLUSION: Our study shows that co-occurring IDD, older age, epilepsy, anxiety and mood disorders, and externalizing behavioral disorders predict psychotropic medication use in autistic adults. The prevalence and the predictors of polymedication in this group raise concerns, emphasizing the need to develop new psychoeducational support and advance more targeted and effective treatments.

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20. Özoğuz N, Balkanas M, Tarakçıoğlu MC. Parental distress, marital satisfaction, and functional impairments in autistic children: A family perspective from Türkiye. Autism. 2025: 13623613251362263.

This study investigates the relationships between family dynamics, parental psychological distress, and functional impairment in Turkish autistic children. We recruited 100 families, including children aged 6-12 years diagnosed with autism and their parents. Autism severity was measured using the Childhood Autism Rating Scale. Parents completed validated tools, including the Brief Symptom Inventory and Weiss Functional Impairment Rating Scale-Parent Form, while mothers also completed the Multidimensional Perceived Social Support Scale and Marital Adjustment Test. Mothers reported higher functional impairment in their children (M = 0.90, SD = 0.50) than fathers (M = 0.82, SD = 0.46, p = 0.020). Maternal distress was significantly associated with greater functional impairment (β = 0.242, p = 0.028), while stronger marital relationships were linked to lower levels of impairment (β = -0.323, p = 0.001). Autism symptom severity and comorbid conditions were not significantly associated with functional impairment. These findings suggest that maternal mental health and marital satisfaction are related to functional impairments in autistic children. While fathers often have less direct caregiving roles, their supportive presence may also be important. These findings highlight the need for longitudinal studies to clarify whether reducing caregiver stress and supporting family resilience are linked to improved outcomes in autistic children.Lay AbstractRaising autistic children presents unique daily challenges for families. This study explored how family relationships and parents’ mental health are linked to the daily functioning of autistic children in Türkiye. We included 100 families with children aged 6-12 years who had been diagnosed with autism. Mothers often reported more challenges in their child’s daily life compared to fathers. Higher levels of maternal stress were associated with greater difficulties in children’s daily functioning. In contrast, stronger and more supportive marriages were associated with fewer reported challenges. These results suggest that family dynamics and caregiver well-being are closely related to how autistic children experience daily life. Supporting parental mental health and strengthening family relationships may help promote better outcomes for autistic children and their families.

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21. Rajpar NA, Kumari M, Khaskheli SA, Munir Abbasi SUA. Diagnosed by geography: The global divide in autism care. Asian J Psychiatr. 2025; 111: 104650.

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22. Sousa D, Ferreira A, Pereira HC, Amaral J, Crisóstomo J, Simões M, Martins R, Mouga S, Duque F, Oliveira G, Castelo-Branco M. Specific dynamic facial expression evoked responses show distinct perceptual and attentional features in autism connected to social communication and GABA phenotypes. Sci Rep. 2025; 15(1): 28399.

Autism is characterised by core differences in social communication and interaction. The neurobiology underlying autism can be investigated using experimental designs that capture the dynamic nature of social perception, which activates the third visual pathway. Here, we investigated dynamic specific facial emotion processing using a naturalistic facial expression paradigm, leading to a specific dynamic N170 (dN170) evoked by emotion expression trajectories. Participants engaged in an active task of an avatar with two temporal trajectories: morphing from neutral to happy or sad expressions and unmorphing back to neutral. We recorded event-related potentials (ERPs) and magnetic resonance spectroscopy in autistic and non-autistic children and adolescents (n = 16 per group; ages between 8 and 17) matched for sex, handedness, and age. Results revealed that dN170 exhibited longer latencies during unmorphing for the autistic group. This specific timing effect, identified for the unmorphing versus morphing conditions in autism, suggests a stimulus trajectory-dependent effect (hysteresis). Dynamic P300 showed higher amplitudes in the autistic group during morphing, confirming the presence of an attentional compensatory mechanism. Correlations between ERP properties, GABA, and social communication abilities provided evidence of a dimensional continuum from non-autistic to autistic traits. These findings highlight the promising role of these ERPs as indicators of perceptual and attentional processing differences in autism.

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23. Wall NG, Smith O, Campbell L, Loughland C, Schall U. Using EEG and Eye Tracking to Evaluate an Emotion Recognition iPad App for Autistic Children. Clin EEG Neurosci. 2025: 15500594251362402.

Autism is a neurodevelopmental condition that impacts individuals’ communication and social interaction skills. Autistic children often have smaller N170 amplitudes in response to faces than neurotypical children. Autistic children also avoid the salient areas of the face. Technology-based interventions have been developed to teach autistic children how to recognise facial expressions, but the results have exhibited considerable variability across studies. The current study explored the effectiveness of an iPad app designed to support autistic children in recognising facial expressions by examining how participants process facial information through event-related potentials (ERP) and eye-tracking recordings. ERPs and eye tracking were recorded from 20 neurotypical and 15 autistic children aged between 6 and 12 years. The results replicated previous work, with the autistic group having smaller N170 and Vertex Positive Potential amplitudes and more scan time off the face when compared to non-autistic children. Following the intervention, some changes were observed in facial feature scanning among autistic participants, characterised by increased time spent on the face and decreased fixations. These findings add to the work, indicating that eye tracking may be a valuable biomarker for intervention outcomes in autism. Further research into N170 as a biomarker is needed.

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24. Wang X, Pei C, He J, Xu J. A deep learning model for diagnosing autism using brain time series. Neuroscience. 2025; 583: 120-35.

The early identification of autism is especially critical as it can significantly enhance the effectiveness of intervention strategies. However, the recognition task remains challenging due to the subtle differences between ASD patients and neurotypical individuals. The presented approach leverages a hybrid model that combines Long Short-Term Memory (LSTM) networks with an Attention mechanism, enabling the extraction of both long-term and short-term features for more accurate autism diagnosis. Additionally, we integrate a residual block with channel Attention to enhance feature fusion and mitigate the risk of network degradation. Innovatively, we introduce a sliding window-based data preprocessing method alongside a voting strategy and validate the framework using subject-level 5-fold cross-validation to ensure generalizability across data splits. Our model was evaluated on the Region of Interest (ROI) time series dataset from the Autism Brain Imaging Data Exchange (ABIDE), achieving 73.1 % accuracy on the DOS brain atlas and 81.1 % on the HO brain atlas-outperforming baseline models. Moreover, we constructed brain functional connectivity topological structures for both ASD patients and healthy individuals, providing valuable resources for future autism research.

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25. Wang YC, Cheng CY, Wu CS, Lee CC, Gau SS. Clinical correlates of errors in machine-learning diagnostic model of autism spectrum disorder: Impact of sample cohorts. Autism. 2025: 13623613251360271.

Machine-learning models can assist in diagnosing autism but have biases. We examines the correlates of misclassifications and how training data affect model generalizability. The Social Responsive Scale data were collected from two cohorts in Taiwan: the clinical cohort comprised 1203 autistic participants and 1182 non-autistic comparisons, and the community cohort consisted of 35 autistic participants and 3297 non-autistic comparisons. Classification models were trained, and the misclassification cases were investigated regarding their associations with sex, age, intelligence quotient (IQ), symptoms from the child behavioral checklist (CBCL), and co-occurring psychiatric diagnosis. Models showed high within-cohort accuracy (clinical: sensitivity 0.91-0.95, specificity 0.93-0.94; community: sensitivity 0.91-1.00, specificity 0.89-0.96), but generalizability across cohorts was limited. When the community-trained model was applied to the clinical cohort, performance declined (sensitivity 0.65, specificity 0.95). In both models, non-autistic individuals misclassified as autistic showed elevated behavioral symptoms and attention-deficit hyperactivity disorder (ADHD) prevalence. Conversely, autistic individuals who were misclassified tended to show fewer behavioral symptoms and, in the community model, higher IQ and aggressive behavior but less social and attention problems. Error patterns of machine-learning model and the impact of training data warrant careful consideration in future research.Lay AbstractMachine-learning is a type of computer model that can help identify patterns in data and make predictions. In autism research, these models may support earlier or more accurate identification of autistic individuals. But to be useful, they need to make reliable predictions across different groups of people. In this study, we explored when and why these models might make mistakes-and how the kind of data used to train them affects their accuracy. Training models means using information to teach the computer model how to tell the difference between autistic and non-autistic individuals. We used the information from the Social Responsiveness Scale (SRS), which is a questionnaire that measures autistic features. We tested these models on two different groups: one from clinical settings and one from the general community. The models worked well when tested within the same type of group they were trained. However, a model trained on the community group did not perform as accurately when tested on the clinical group. Sometimes, the model got it wrong. For example, in the clinical group, some autistic individuals were mistakenly identified as non-autistic. These individuals tended to have fewer emotional or behavioral difficulties. In the community group, autistic individuals who were mistakenly identified as non-autistic had higher IQs and showed more aggressive behaviors but fewer attention or social problems. On the contrary, some non-autistic people were incorrectly identified as autistic. These people had more emotional or behavioral challenges and were more likely to have attention-deficit hyperactivity disorder (ADHD). These findings highlight that machine-learning models are sensitive to the type of data they are trained on. To build fair and accurate models for predicting autism, it is essential to consider where the training data come from and whether it represents the full diversity of individuals. Understanding these patterns of error can help improve future tools used in both research and clinical care.

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26. Webb L, Castillo IE, Holingue C, Testa A, Wallace D, Jackson DB. Police Contact and Mental Health Among Adolescents With Autism: Findings From the UK Millennium Cohort Study. J Adolesc Health. 2025.

PURPOSE: The present study examines differences in police contact and mental health outcomes between autistic and nonautistic youth in the United Kingdom. METHODS: Data from the UK Millennium Cohort Study-a nationally representative cohort study that follows youth born between September 2000 and January 2002-were analyzed in 2024 (n = 11,859). Prior police contact, engagement in self-harm behaviors, and assessments of well-being and mental health were compared at age 14 (Sweep 6, 2015) and age 17 (Sweep 7, 2018) between autistic and nonautistic youth. Multinominal logistic and linear regression models first examined associations between autism diagnosis and the following 3 forms of police contact: stopped and questioned, received a warning, and arrested. Interaction terms between autism diagnosis and police contact were then created to explore further associations with mental health outcomes. RESULTS: Autistic adolescents were at greater risk than their nonautistic peers of receiving a police warning. In terms of police contact’s implications for autistic adolescents’ mental well-being, 2 main findings emerged. First, those who were only stopped and questioned were more likely to exhibit short-term self-harm behaviors. Second, associations between receiving a police warning and several key indicators (e.g., internalizing behaviors, depression symptoms) were stronger for autistic adolescents than nonautistic adolescents. DISCUSSION: Findings indicate that police contact may have a more detrimental effect on the mental health and well-being of autistic youth compared to nonautistic youth. Additional research, police education, and policy reform are critically needed to ensure safer and more equitable interactions.

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27. Wilson JS, 3rd, Eilenberg J, Feng W, Chu A, Abramson MA, Davis KA, Guthrie KM, Kuhn J, Orsmond GI, Long KA. Transportation Access in the Transition to Adulthood: Navigating a Neurotypical World on the Autism Spectrum. J Autism Dev Disord. 2025.

Despite documented transportation access challenges among autistic adolescents and young adults (AYAs), little is known about the processes through which transportation inaccessibility affects AYAs during the transition to adulthood. This qualitative analysis explores what underlies challenges for AYAs who have trouble accessing transportation in the transition to adulthood, how this inaccessibility affects their transition process, and suggestions for supporting AYAs in accessing transportation in the future. Semi-structured qualitative interviews were conducted with 27 culturally, linguistically, and economically diverse parents/caregivers of AYAs and five service providers. Data were systematically coded, organized using Framework Matrices, and analyzed using Applied Thematic Analysis. Findings reveal how barriers affect AYAs’ transportation access, including (1) mismatches between transportation environments and AYAs’ sensory, interpersonal, and executive functioning needs and (2) few opportunities for AYAs to develop skills and adaptations to use available transportation options and/or to identify alternative transportation options. Although transportation barriers were described broadly, their impact on minoritized and low-income AYAs was more pronounced, thus widening transition-related disparities. Findings highlight compounding barriers to and implications of transportation inaccessibility for autistic youth. The study suggests the importance of a multi-tiered approach to improving transportation accessibility for AYAs, including ensuring dedicated transportation education, improving community and institutional partnerships, and re-designing transportation infrastructure, which together have the potential to improve transition-related and adult outcomes. Future research should prioritize partnering with AYAs to design and implement interventions to improve transportation access.

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28. Wiseman S. Big data for classifying ASD. Nat Neurosci. 2025; 28(8): 1577.

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29. Zhang Y, Shen L, Li Y, Guo H, Xie F, Li S, Li Y, Chen J, Chen J. Lead-driven synergistic interactions in environmental metal (loid) mixtures: Systemic inflammation mediating autism spectrum disorder risk in Chinese children. Int J Hyg Environ Health. 2025; 269: 114645.

Environmental metal (loid) exposure, particularly to lead (Pb), constitutes a growing concern for potential associations with autism spectrum disorder (ASD). Current risk assessments may underestimate neurodevelopmental impacts due to co-exposure interactions, while systemic inflammation’s mediating role in Pb-ASD relationships remains poorly characterized. This case-control study quantified serum concentrations of eight metal (loid)s via inductively coupled plasma mass spectrometry (ICP-MS) in 81 ASD cases and 402 typically developing (TD) Chinese children. Logistic regression demonstrated significantly elevated ASD risk with increasing Pb exposure quartiles (Q3 vs. Q1: OR = 2.64, 95 % CI 1.42-4.89; Q4 vs. Q1: OR = 6.85, 95 % CI 3.24-14.48; P(trend) < 0.001). Restricted cubic spline analysis confirmed a positive nonlinear dose-response relationship between log-transformed Pb levels and ASD risk (P(non-linear) = 0.004, P(overall) < 0.001). Multi-pollutant mixture analyses identified Pb as the predominant contributor to ASD risk in both quantile g-computation (weight = 0.5099) and Bayesian kernel machine regression (PIP = 1.00) models, with evidence of significant cobalt (Co)-Pb interaction. Mediation analyses indicated systemic inflammation indices (SIRI, SII) partially mediated the Pb-ASD association (15.8 % and 8.6 %, respectively). These findings identify Pb as a principal determinant of metal (loid)-associated ASD risk, with inflammatory pathways contributing to its neurotoxicity. The observed Co-Pb interaction warrants investigation into co-exposure neurotoxicity mechanisms.

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30. Zhao G, Tian X, Peng K, Guo L, Chen Y, Cao Y, Wu H, Zhang M. Targeting S1PR1 with W146 Ameliorates autism-associated cognitive deficits by restoring neurovascular integrity via ERK/Caspase-3 pathway modulation. Pharmacol Biochem Behav. 2025; 255: 174078.

OBJECTIVE: We investigated the role of sphingosine-1-phosphate receptor 1 (S1PR1) in blood-brain barrier (BBB) function and associated behavioral abnormalities using the BTBR T + tf/J (BTBR) mouse model of autism. METHODS: Male C57BL/6 J (C57) and BTBR mice (4-week-old, n = 16/group) were assigned to three groups: C57 + Veh, BTBR+Veh, and BTBR+W146. The BTBR+W146 group received daily intraperitoneal injections of W146 (1 mg/kg) for 21 days, while control groups received equivalent volumes of vehicle (DMSO+0.9 % saline). Learning and memory were assessed using the Morris water maze. S1PR1 expression was determined via RT-PCR and Western blot analysis. Hippocampal neuronal morphology was examined by Nissl staining, while microvascular endothelial markers (CD31) and apoptotic pathway proteins (p-ERK, Caspase-3) were assessed by immunohistochemistry and Western blot. RESULTS: BTBR mice showed significantly higher hippocampal S1P and S1PR1 than C57 controls (P < 0.01). W146 treatment reduced escape latency and increased platform crossings in the Morris water maze (P < 0.05). Treatment with W146 also increased phospho-Ca(2+)/calmodulin-dependent protein kinase II (p-CaMKII), and phospho-cAMP-response element binding protein (p-CREB) expression in the hippocampus. Histologically, W146 restored neuronal density in the hippocampal CA1 region and preserved microvascular integrity, as shown by increased CD31 expression (P < 0.05). The observed neuroprotective effect was linked to significant decreases in the expression of phosphorylated ERK (P < 0.05) and Caspase-3 (P < 0.05). CONCLUSION: Elevated S1P/S1PR1 signaling in BTBR mice is associated with hippocampal neurovascular dysfunction. Treatment with the S1PR1 antagonist W146 improves learning and memory deficits, coinciding with reduced ERK/Caspase-3-mediated apoptotic signaling and preserved CA1 neuronal integrity. These findings highlight S1PR1 as a potential therapeutic target for autism-related cognitive impairments.

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