1. Alampi JD, Lanphear BP, MacFarlane AJ, Braun JM, Oulhote Y, Ashley-Martin J, Arbuckle TE, Chen A, Muckle G, McCandless LC. Association between gestational environmental chemical mixtures and folate exposures with autistic behaviors in a Canadian birth cohort. Environ Epidemiol. 2025; 9(4): e402.

BACKGROUND: Prenatal exposure to environmental chemicals may be associated with autism or autistic-like behaviors. Previous studies suggest that these associations are stronger when folic acid (FA) supplementation is lower. METHODS: We used data from the Maternal-Infant Research on Environmental Chemicals study, a Canadian pregnancy and birth cohort (2008-2011). We considered five separate chemical mixtures (measured during the first trimester of pregnancy): metals, organochlorine pesticides, per- and polyfluoroalkyl substances (PFAS), polychlorinated biphenyls (PCBs), and persistent organic pollutants (POPs; including organochlorine pesticides, PFAS, PCBs, and one polybrominated diphenyl ether congener). Autistic-like behaviors were documented in 601 3-4-year-old children with the social responsiveness scale-2 (SRS-2), where higher T-scores denote more behaviors. We used quantile g-computation to estimate the mixture-SRS-2 associations and assessed whether gestational FA supplementation and plasma total folate concentrations modified these associations. RESULTS: The PFAS mixture was associated with decreased SRS-2 T-scores (Ψ = -0.5; 95% confidence interval [CI] = -1.1, 0.1). The metal-SRS-2 associations were stronger in the positive direction among participants with high (>1,000 μg/d) FA supplementation (Ψ = 2.4; 95% CI = 0.8, 3.9) versus those with adequate (400-1,000 μg/d) supplementation (Ψ = -0.2; 95% CI = -1.1, 0.7) (p-interaction = 0.003). Plasma total folate concentrations similarly modified these associations (p-interaction = 0.01). The associations between the PFAS, PCB, and POP mixtures and SRS-2 T-scores were stronger in the positive direction among participants with low (<400 μg/d) versus adequate FA supplementation. This was not observed when assessing modification by plasma total folate concentrations. CONCLUSION: Our results suggest that the metal mixture is more strongly associated with autistic-like behaviors among participants with higher folate exposure, and the PFAS, PCB, and POP mixtures are more strongly associated with autistic-like behaviors among participants with low FA supplementation.

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2. Barnes JE, Turner K, McEvoy A, Morrison L. Well-Child Care: Toddlers and Preschool-Aged Children. FP Essent. 2025; 553: 16-24.

The well-child examination is a crucial time for health promotion and disease prevention in toddlers and preschool-aged children (ages 1-5 years). Critical components are the physical examination and developmental screening because they provide the opportunity to intervene on developmental delays. Children should be assessed for healthy growth; obesity or growth faltering should be addressed with a stepwise and interdisciplinary approach. Vaccinations are critical for disease prevention and should be administered on time. Screening for anemia, autism spectrum disorder, dental health, hypertension, lead, tuberculosis, and vision should be considered or performed, often dictated by the risk factors of the child. Physicians should provide counseling on behavioral concerns, such as temper tantrums or breath-holding spells, with guidance on planned-ignoring, time-ins or time-outs, and referrals where indicated. Physicians should provide counseling on minimizing screen time and injury prevention. Reassurance and injury prevention strategies should be provided for common sleep disorders, such as night terrors and sleepwalking. Physicians should provide counseling on bathroom training and common issues such as constipation and enuresis. Constipation should be managed via bowel disimpaction and maintenance regimens after excluding red flag features, such as weight loss, hematochezia, bilious vomiting, or inconsolable abdominal pain. First-line therapy for enuresis includes bed alarms and desmopressin.

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3. Bernhardt BC, Valk SL, Hong SJ, Soulières I, Mottron L. Autism-related shifts in the brain’s information processing hierarchy. Trends Cogn Sci. 2025.

Despite considerable research efforts, mechanisms of autism remain incompletely understood. Key challenges in conceptualizing and managing autism include its diverse behavioral and cognitive phenotypes, a lack of reliable biomarkers, and the absence of a framework for integration. This review proposes that alterations in sensory-transmodal brain hierarchy are a system-level mechanism of atypical information processing in autism. Hierarchies can account for diverse autism symptomatology and help explain common neurodevelopmental hallmarks, notably a shift away from socially biased information processing, and an enhanced role, autonomy, and performance of perception. A hierarchical reference frame can also subsume spatially heterogeneous neuroimaging findings and make conceptual contact with foundational theories of cortical information processing, thereby consolidating behavioral, cognitive, computational, and neural characteristics of the condition.

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4. Chen C, Chien YL, Gau SS. The interplay between functional connectivity of medial and lateral visual networks, behavioral measures, and oxytocin receptor gene polymorphism (rs2254298) in autism. Eur Child Adolesc Psychiatry. 2025.

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5. Chen Z, Yang Q, Zhang S, Yang DJ, Peng T. Mendelian randomization analysis does not reveal a causal association between genetic liability to chronic pain and autism spectrum disorder. J Psychosom Res. 2025; 195: 112189.

OBJECTIVE: Although observational studies suggest potential comorbidities between chronic pain (CP) and autism spectrum disorder (ASD), causal relationship remains unclear. This study aimed to investigate the causal association between genetic liability to CP and ASD using a bidirectional Mendelian Randomization (MR) analysis. METHODS: Genome-wide association summary-level data for CP and ASD were sourced from public databases. Single nucleotide polymorphisms (SNPs) were used as instrumental variables (IVs) in MR analysis. Inverse variance weighted (IVW) was the primary MR method, with MR-Egger, weighted median, and maximum likelihood analyses supplementing IVW results. Forward MR analysis evaluated the causal effect of CP on ASD, and reverse MR analysis assessed the causal impact of ASD on CP. Various sensitivity tests were performed for MR results’ reliability. RESULTS: The forward MR analysis found no causal effect of seven CP types on ASD (P > 0.05). Similarly, reverse MR analysis showed no causal effect of ASD on seven CP types (P > 0.05). Sensitivity tests confirmed results’ reliability: (i) Cochran’s Q test showed no significant heterogeneity; (ii) MR-Egger intercept test and MR-PRESSO global test indicated no horizontal pleiotropy; (iii) leave-one-out test confirmed the stability of the MR results. CONCLUSION: This bidirectional MR analysis did not find evidence for a causal relationship between genetic liability to CP and ASD. The observed comorbidity may be due to shared mechanisms rather than direct causation. Further research is needed to explore these mechanisms and inform therapeutic strategies.

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6. Cullingham T, Rennard U, Creswell C, Milton D, Buckle KL, Godber L, Gordon K, Larkin M, Green J. The process of co-design for a new anxiety intervention for autistic children. JCPP Adv. 2025; 5(2): e12255.

BACKGROUND: Mental health difficulties are common for autistic people; however, almost no interventions have been co-designed with the autistic community. Co-design has the potential to add important insights from lived experience into intervention design, but there are currently limited examples of how rigorously to undertake this practice. This paper details a worked model of co-design and its process, focussed on adapting an evidenced parent-led intervention for non-autistic child anxiety (HYC), to meet the needs of young autistic children. The aim is to provide an example of co-design, integrating autistic, parental, academic, clinical, experience and expertise. METHODS: Using prior literature and theory, including Experience-Based Co-Design, we developed an iterative and collaborative process between the research team and an expert reference group (ERG). The research team comprised autistic and non-autistic members. The ERG included parents (autistic and non-autistic) of autistic children with anxiety problems, autistic adults with experience of anxiety problems, and clinicians with experience supporting autistic children with anxiety problems. The ERG and research team reviewed information from qualitative research interviews with autistic children with anxiety problems and their parents along with information from clinical experience and the academic literature to reach consensus on the adapted intervention design. RESULTS: The creation of a truly co-designed intervention that includes a neurodiversity-affirmative perspective, alongside CBT techniques. With anxiety problems experienced by autistic children being framed by combining the impacts of being neurodivergent in a neurotypical world, developmental science and well known cognitive behavioural models of child-anxiety. CONCLUSION: Co-design can help to integrate multiple perspectives and result in the creation of interventions that are potentially relevant and acceptable to autistic people, their family members, and clinicians.

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7. de Lara ICA, Wagner PHS, Matheus G, Campos LE, Miranda CAS, Souza MEC, de Moraes FCA, Kelly FA, Fernandes LR. Response to letter by Alain Braillon entitled « autism and prenatal exposure to antiseizure medications: Still a long-standing blind spot? ». Seizure. 2025; 131: 140-1.

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8. Greaves N. Emotion regulation difficulties and differences in autism including demand-avoidant presentations-A clinical review of research and models, and a proposed conceptual formulation: Neural-preferencing locus of control (NP-LOC). JCPP Adv. 2025; 5(2): e12270.

Emotion regulation (ER) difficulties and differences in autism are well documented in both research and clinical literature, negatively impacting well-being for autistic young people. Emotion dysregulation can significantly decrease access to opportunities to learn life skills and increase the risk of mental health problems in adulthood. This situation intensifies with more extreme demand avoidant presentations. Efforts to increase understanding in this area have therefore been the subject of much attention with conceptual models created to explore possible underlying mechanisms and guide interventions. This clinical review explores the ER literature and conceptual models in autism and offers a formulation-Neural Preferencing Locus of Control (NP-LOC). NP-LOC aims to build on existing theory, research and conceptual models by offering different perspectives in ER through a cognitive, developmental formulation related to the core features of autism-in particular, the impact of a strong need to follow preferred agendas and routines, differences in social understanding related to daily demands, and difficulties accessing social support systems-and how these factors relate to perceived safety and control needed for daily functioning. The role of social understanding as a mediating factor in ER and the implications for intervention in autism are discussed, especially for demand avoidant presentations.

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9. Hansford RL, Wilson B, Griffiths R, Mahar AL. Intellectual or developmental disabilities and curative female breast cancer treatment: A population-based retrospective cohort study. Breast. 2025; 82: 104509.

BACKGROUND: Adults with intellectual or developmental disabilities (IDD) diagnosed with breast cancer are more likely to die than those without IDD. Differences in breast cancer treatment among individuals with and without IDD could contribute to survival disparities. We compared breast cancer treatment receipt among adults with and without IDD. METHODS: A population-based retrospective cohort study was conducted using administrative data. We included adult females diagnosed with stage I-III breast cancer in Ontario (2007-2018). IDD status was identified using an established algorithm. We estimated associations between IDD and surgical resection, adjuvant chemotherapy, and radiation using cause-specific hazards models in four distinct cohorts determined by stage and treatment eligibility. Unadjusted and adjusted hazard ratios (HR; adjusted for region, rurality, previous cancer, stage and year of diagnosis) with 95 % confidence intervals are reported, accounting for the competing event of death. Cancer subtype was not adjusted for as about 25 % of participants were missing this information. Effect modification by age, stage and comorbidity was explored. RESULTS: The four cohorts included 100,679 (IDD = 369), 12,526 (IDD = 57), 60,279 (IDD = 167), and 7891 individuals (IDD = 22), respectively. Relative to those without IDD, people with IDD were less likely to receive surgical resection (HR = 0.84; 0.76-0.94), breast conserving surgery (HR = 0.69; 0.60-0.80), adjuvant chemotherapy (HR = 0.49; 0.32-0.74), and radiation (HR = 0.58; 0.46-0.73). People with IDD were as likely to receive mastectomy (HR = 1.13; 0.97-1.33). Significant interactions by age and IDD were detected for receipt of mastectomy (interaction p-value = 0.03) and breast conserving surgery (interaction p-value = 0.02). CONCLUSIONS: Research to understand treatment decision-making, the accessibility of breast cancer treatment, and to examine potential pathways to improve receipt of guideline-recommended care are needed to inform targeted improvements in care delivery.

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10. Hickman LJ, Cook JL. High rates of Parkinson’s disease diagnosis in the autistic population: True co-occurrence or a product of overlapping traits?. Neurosci Biobehav Rev. 2025; 176: 106261.

Older autistic adult literature is sparse, and little is known about the aging autistic population. However, recent evidence suggests an increased prevalence of Parkinson’s disease (PD) diagnosis in the autistic population. It may initially be assumed that autistic individuals are genetically more likely to develop PD, but extant genetic studies do not provide strong evidence for a link between the two conditions. An underappreciated body of evidence may shed light upon why autistic individuals score highly on PD diagnostic criteria: movement differences in autism have been likened to PD. Given that PD diagnosis is primarily movement-based, if it is the case that autistic movement appears parkinsonian, this may facilitate autistic individuals meeting diagnostic criteria for PD. If validated, this theory could have serious implications for the specificity of the PD diagnostic process. Here, we set out the evidence for high rates of PD diagnosis and parkinsonism in the autistic population and subsequently question why this might be the case, making reference to genetic and behavioural similarities between autism and PD.

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11. Holanda MVF, Paiva EDS, de Souza LN, Paiva KM, Oliveira RF, Tavares É AF, Morais P, de Andrade AM, Knackfuss MI, do Nascimento EGC, Cavalcanti J. Neurobiological basis of autism spectrum disorder: mini review. Front Psychol. 2025; 16: 1558081.

Autism Spectrum Disorder is a neuropsychiatric condition characterized by deficits in communication, social interaction, and repetitive behaviors, with significant symptom variability. This multifaceted profile reflects a complex genetic architecture as well as diversity in morphological characteristics. Therefore, the objective of this review is to discuss the genetic and morphological aspects that may contribute to understanding autism. No temporal restrictions were applied for study inclusion, nor were there limitations regarding language. Scientific articles available in full text and directly related to the topic were included, while editorials, letters, conference abstracts, theses, dissertations, and books were excluded. The results of this review converge on two main aspects: (1) genetic and morphological findings are essential for a more comprehensive understanding of the disorder, providing an important basis for investigating its underlying mechanisms; and (2) despite their relevance, the results are still incipient and insufficient to explain the full clinical and behavioral heterogeneity associated with autism, highlighting the need for further studies.

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12. Jia X, Gao S, Liu X, Feng Z, Wang X, Lan K, Lu Y, Han L, Wei YB, Liu JJ. Alterations of the endocannabinoid system in autism spectrum disorder: a systematic review and meta-analysis. Eur Arch Psychiatry Clin Neurosci. 2025.

Dysregulation of the endocannabinoid system (ECS) might be related to autism spectrum disorder (ASD). This study conducts a meta-analysis on the dysregulation of the ECS across ASD animal models and individuals with ASD and systematically reviews the impact of these alterations in ASD animal models. Out of 47 papers assessed for eligibility, 16 animal studies and five human studies were included for narrative synthesis and seven and three for quantitative analysis, respectively. The results revealed a significant decrease in hippocampus anandamide (AEA) levels (SMD = -1.06, 95% CI [-1.78, -0.33], p < 0.01) among ASD animal models and a decrease in blood AEA levels in individuals with ASD (SMD = -0.79, 95% CI [-1.28, -0.30], p = 0.002) compared to normal controls. In the prefrontal cortex, 2-arachidonoylglycerol (2-AG) levels were significantly decreased, despite high heterogeneity between studies (SMD = -1.00, 95% CI [-1.93, -0.06], p = 0.04). No significant changes compared to normal controls were observed in levels of AEA (SMD = -0.48, 95% CI [-1.20, 0.25], p = 0.20), 2-AG (SMD = -0.62, 95% CI [-1.27, 0.02], p = 0.06) in combined brain regions. The narrative synthesis revealed that elevated AEA and 2-AG levels could ameliorate core and associated autistic-like symptoms with region and sex-dependent variations in ASD animal models. Future research should focus on specific mechanisms of endocannabinoids regional effects while considering sex-related influences.

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13. Jones DR, Yarger HA, Redcay E. The Critical Need for Research Examining Mental Health Risk and Protective Factors in Black Autistic Youth. J Am Acad Child Adolesc Psychiatry. 2025.

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14. Kim H, Leventhal BL, Koh YJ, Gennatas ED, Kim YS. Development and Validation of Prediction Models for the Diagnosis of Autism Spectrum Disorder in a Korean General Population. JAACAP Open. 2025; 3(2): 302-12.

OBJECTIVE: Delays in autism spectrum disorder (ASD) diagnosis and treatment are significant clinical problems that can be addressed by timely, community-based assessment. This study examined tools for identifying ASD in community settings using machine learning (ML) models. METHOD: This study analyzed population-based cross-sectional studies (2005-2017) of ASD in South Korea. A community sample of 62,083 children was screened using the Autism Spectrum Screening Questionnaire (ASSQ) and teacher/caregiver referrals. Caregivers completed the Behavior Assessment System for Children-2nd Edition (BASC-2) and the Social Responsiveness Scale (SRS). Screen positives were offered a comprehensive clinical evaluation. Among the first-graders in regular elementary schools who completed the diagnostic evaluation (N = 746), supervised ML models (generalized linear model with elastic net regularization [GLMNET], classification and regression tree, random forest, and gradient boosting [GB]) were developed and validated for classification of ASD. Models were developed in the single questionnaire and combined questionnaire datasets, using questionnaire responses and demographic and developmental information. RESULTS: ASD was diagnosed in 46.2% of children (median age, 6.8 years [interquartile range, 6.5-7.1 years]; 71.7% boys). Among single questionnaire models, the BASC GB model demonstrated the best discrimination ability (area under the curve 0.80, 95% CI 0.75-0.83). Area under the curve of the GLMNET model with combined ASSQ, BASC-2, and SRS was the highest, 0.82 (95% CI 0.77-0.89); the predicted risk of ASD by the GB model of combined questionnaires agreed the best with the observed risk of ASD compared with other ML models. CONCLUSION: Caregiver questionnaire ML models showed future promise for identifying children with ASD in community settings. To tackle the problem of delayed autism diagnosis, a study in South Korea used machine learning tools to identify autism spectrum disorder (ASD) from a community sample of over 62,000 children. By analyzing questionnaire responses along with developmental data, researchers developed models to classify ASD, with the best model achieving accuracy with an area under the curve (AUC) statistic of 0.82. The findings suggest that machine learning models based on caregiver questionnaires have significant potential for early identification of ASD in community settings. This could lead to more timely interventions for affected children. eng.

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15. Lee NY, Chung IW, Wachtel LE, Kim YS. Electroconvulsive Therapy for Self-injurious Behavior in Autism Spectrum Disorders: Case Series. J ect. 2025.

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16. Mazer P, Pasion R, Fontes M, Pires C, Silveira C, Ferreira-Santos F. How distinct autism and schizotypal trait dimensions influence neural predictive processing: An Event-related potential study. Brain Cogn. 2025; 188: 106329.

The Predictive Processing framework offers insights into the neural mechanisms underlying autism and schizophrenia spectra. This study employed visual and auditory oddball tasks with varying difficulty levels to test whether brain-responses to unexpected events are different within these spectra. A total of 122 participants underwent EEG recordings and completed self-reports of autistic and schizotypal traits. Results showed that increased task difficulty significantly reduced P300 amplitudes across both sensory modalities. Higher Restricted Interests and Detail Orientation autistic traits were associated with enhanced N2 amplitudes in the difficult visual task, but there were no effects in the P300 time-window. Bayesian analyses yielded moderate evidence against any reliable association between P300 amplitudes and both autistic traits and schizotypy. Early auditory N1-P2 showed no credible relationships with schizotypal traits and only weak, task-dependent associations with autistic communication difficulties. Our study contributes to the growing literature on neural variability in autism and schizophrenia, emphasizing the importance of symptom-specific research and paving the way for more targeted investigations on predictive processing mechanisms. Moreover, the divergent findings for communication versus restricted-interests traits strengthen proposals that social and non-social dimensions in autism rely on distinct neural processes.

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17. Miyakoshi M, Kim H, De Stefano LA, Schmitt LM, Norris JE, Ethridge LE, Erickson CA, Pedapati EV. Hyper-extralemniscal model of Fragile X syndrome. Cereb Cortex. 2025; 35(6).

Auditory hypersensitivity is a well-established phenotype of Fragile X syndrome (FXS), but how it relates to neurobehavioral biomarkers remains poorly understood. To offer an integrated model, we propose a dual thalamic framework with hypo-lemniscal (LEM) and hyper-extralemniscal (EXLEM) thalamic models. Traditional FXS studies may have been conflating LEM and EXLEM systems, misrepresenting the origins of the hypersensitivity. We hypothesize that hyper-EXLEM pathology impacts FXS symptoms more. To test this hypothesis, we first review the dual thalamic systems and then demonstrate the hypo-LEM and hyper-EXLEM models in individuals with FXS. We use a 40 Hz auditory steady-state response (ie LEM responses) paradigm with relatively long (1.5 to 3 s) stimulus and interstimulus intervals to evoke N1/P2 as Vertex Potentials (VPs, ie EXLEM responses) for onset and offset of the stimulus. We analyzed electroencephaogram (EEG) responses from 29 FXS and 33 healthy comparison individuals. Results showed lower intertrial coherence (ITC) in FXS, consistent with hypo-LEM predictions, and larger vertex potentials consistent with hyper-EXLEM predictions. Correlation analyses revealed that enhanced VPs classified FXS males more sensitively than ITC. These findings indicate that hyperreactivity of the EXLEM system is more dominantly related to FXS, which can provide a more accurate account for guiding diagnostic and therapeutic strategies.

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18. Mukherjee SS, Halder A, Singhi AK, Sivakumar K. 2: 1 AV block post ASD device closure – What is the mechanism. Indian Pacing Electrophysiol J. 2025.

We report a case of atrioventricular (AV) block post successful percutaneous atrial septal defect (ASD) device closure. He had minimal fatigue and presented for his routine follow-up after intervention. His ECG showed 2:1 AV block. The interesting finding was appearance of varying PR interval in the conducted beats evoking possibility of complete heart block (CHB). We review the literature and conclude that changing PR is part of compensation to maintain R-R interval in a typical Wenckebach phenomenon.

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19. Mumenin N, Rahman MM, Yousuf MA, Noori FM, Uddin MZ. Early diagnosis of autism across developmental stages through scalable and interpretable ensemble model. Front Artif Intell. 2025; 8: 1507922.

Autism Spectrum Disorder (ASD) is a multifaceted neurodevelopmental condition that challenges early diagnosis due to its diverse manifestations across different developmental stages. Timely and accurate detection is essential to enable interventions that significantly enhance developmental outcomes. This study introduces a robust and interpretable machine learning framework to diagnose ASD using questionnaire data. The proposed framework leverages a stacked ensemble model, combining Random Forest (RF), Extra Tree (ET), and CatBoost (CB) as base classifiers, with an Artificial Neural Network (ANN) serving as the meta-classifier. The methodology addresses class imbalance using Safe-Level SMOTE, dimensionality reduction via Principal Component Analysis (PCA), and feature selection using Mutual Information and Pearson correlation. Evaluation on publicly available datasets representing toddlers, children, adolescents, adults, and a merged dataset (Combining children, adolescents, and adults dataset) demonstrates high diagnostic accuracy, achieving 99.86%, 99.68%, 98.17%, 99.89%, and 96.96%, respectively. Comparative analysis with standard machine learning models underscores the superior performance of the proposed framework. SHapley Additive exPlanations (SHAP) were used to interpret feature importance, while Monte Carlo Dropout (MCD) quantified uncertainty in predictions. This framework provides a scalable, interpretable, and reliable solution for ASD screening across diverse populations and developmental stages.

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20. Naman T, Fichman S, Altman C, Sukenik N. Narrative production abilities of children with autism. Autism Dev Lang Impair. 2025; 10: 23969415251321824.

BACKGROUND AND AIMS: Narrative abilities are crucial for effective communication and social interactions. Children with autism often struggle with narrative production and comprehension due to their unique developmental profiles. This study examines the macrostructure and microstructure narrative skills of Hebrew speaking children with autism compared to age-matched typically developing (TD) children, aiming to uncover specific areas of difficulty and proficiency. METHODS: The study included 64 children aged 6-8 years, divided equally between those diagnosed with autism and TD peers. Participants underwent narrative production tasks involving both fictional and everyday narratives, and modes of generating and retelling. Narrative comprehension was also assessed immediately after each task. Macrostructure analysis examined the organization and structure of the narratives while microstructure analysis focused on linguistic elements such as syntax and word use. RESULTS: Both groups exhibited comparable overall narrative production and comprehension skills. However, subtle distinctions were noted such that children with autism showed difficulties in creating complex narrative structures and integrating syntactic elements effectively compared to their TD peers. Despite the differences, children with autism demonstrated notable strengths, particularly in the retelling mode, where they sometimes achieved higher scores in the use of function words. Both groups achieved similar scores in narrative comprehension tasks. CONCLUSIONS: The findings indicate that while children with autism can develop narrative skills comparable to their TD peers, they continue to experience specific challenges that affect their narrative production, particularly in syntactic complexity. Although not always statistically significant, these findings suggest that autistic children possess narrative abilities that emerge under certain conditions, emphasizing the importance of considering varied narrative contexts in assessments. IMPLICATIONS: The study highlights the need for targeted narrative intervention programs that address the specific challenges and strengths faced by children with autism. Educational strategies should focus on enhancing syntactic construction and narrative structure to improve both academic and social communication outcomes.

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21. Nicholas DB, Shafai F, Edelson SM, Bal V, Nelson H, Lawson W, Doherty M, Geurts HM, Sullivan WF, Braden BB, Wallace GL, Share M, John LS, Amaral DG, Whitaker AH, Watters L, Robson T, Gauthier J, Moulanier S, Perry L, Stemp S, Wilkinson E, Jokinen N, Bauman ML, Hendren R, Anagnostou E, Trollor JN. Advancing care priorities for health and quality of life among older adults in the autism and/or intellectual disabilities communities: proceedings of an international Think Tank. BMC Proc. 2025; 19(Suppl 11): 15.

As the number of older autistic adults and adults with intellectual disabilities grows, expanding capacity to meet their needs is crucial. On November 23-25, 2023, a Think Tank on aging in autism and/or intellectual disabilities was convened, with national and international delegates within this field. The Think Tank consisted of presentations focusing on key issues as well as a series of panel presentations addressing first-person lived experience, family caregiving, service provision in the community, and physical and mental health-based care. Discussion reflected lived experiences and care needs in this population, with an ultimate aim of advancing healthcare and community support. Delegates, who represent perspectives as self-advocates, family caregivers, service providers, clinicians and researchers, ranked guidelines and areas of focus identified in the literature in terms of the most important priorities for the near-term development of capacity building resources.

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22. Nikfarjam M, Heidari-Soureshjani S, Rostamian S, Kasiri K. The Biochemical Effects of Resveratrol Intake on the Neurobehavioral Aspects of Autism Spectrum Disorders: A Systematic Review. Cent Nerv Syst Agents Med Chem. 2025.

INTRODUCTION/OBJECTIVE: Autism spectrum disorders (ASD) are neurodevelopmental disorders characterized by various neurobehavioral impairments. This study aims to review the preventive and therapeutic effects of Resveratrol (RSV) against ASD during various stages of life, specifically focusing on its influence on behavioral and neurodevelopmental biochemical mechanisms. METHODS: On December 6, 2024, a comprehensive electronic search was conducted across several high-coverage databases, including Web of Science, Scopus, PubMed/MEDLINE, Embase, and the Cochrane Library. The most important data were extracted and reviewed after screening the publications based on our inclusion and exclusion criteria. RESULTS: RSV alleviates autistic-like social behaviors by promoting social interaction and mitigating repetitive behaviors, anxiety, and symptoms resembling depression. RSV influences chemokine receptor expression, diminishes pro-inflammatory cytokines, including tumor necrosis factor-alpha (TNF-α), interleukin-6 (IL-6), and interferon-gamma (IFN-γ), and regulates mitochondrial function by reducing nitrosative stress and thiobarbituric acid reactive substances (TBARS) levels, while also increasing antioxidant markers like glutathione (GSH), catalase (CAT), and superoxide dismutase (SOD) in the brain. Additionally, it enhances neuronal organization, increases the proportions of interneurons (SOM+, PV+, CB+), and restores the integrity of the hippocampus. Moreover, RSV modulates epigenetic pathways, such as estrogen receptorbeta (ERβ) activation and sirtuin 1 (Sirt1) expression, counteracts learning, memory, and locomotor activity deficits, and normalizes cortical oscillations. It also potentially modulated gutbrain- axis dysregulation and neurotransmitters. CONCLUSION: RSV has shown promising effects on ASD, primarily through its influence on behavioral, neuromolecular, and neurodevelopmental mechanisms.

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23. Prakash A, Banerjee M. Neur-Ally: a deep learning model for regulatory variant prediction based on genomic and epigenomic features in brain and its validation in certain neurological disorders. NAR Genom Bioinform. 2025; 7(2): lqaf080.

Large-scale quantitative studies have identified significant genetic associations for various neurological disorders. Expression quantitative trait locus (eQTL) studies have shown the effect of single-nucleotide polymorphisms (SNPs) on the differential expression of genes in brain tissues. However, a large majority of the associations are contributed by SNPs in the noncoding regions that can have significant regulatory function but are often ignored. Besides, mutations that are in high linkage disequilibrium with actual regulatory SNPs will also show significant associations. Therefore, it is important to differentiate a regulatory noncoding SNP with a nonregulatory one. To resolve this, we developed a deep learning model named Neur-Ally, which was trained on epigenomic datasets from nervous tissue and cell line samples. The model predicts differential occurrence of regulatory features like chromatin accessibility, histone modifications, and transcription factor binding on genomic regions using DNA sequence as input. The model was used to predict the regulatory effect of neurological condition-specific noncoding SNPs using in silico mutagenesis. The effect of associated SNPs reported in genome-wide association studies of neurological condition, brain eQTLs, autism spectrum disorder, and reported probable regulatory SNPs in neurological conditions were predicted by Neur-Ally.

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24. Ranjan J, Bhattacharya A. The Evolving Landscape of Functional Models of Autism Spectrum Disorder. Cells. 2025; 14(12).

Autism spectrum disorder (ASD) is a neurodevelopmental disorder affecting 1-3% of the population globally. Owing to its multifactorial origin, complex genetics, and heterogeneity in clinical phenotypes, it is difficult to faithfully model ASD. In essence, ASD is an umbrella term for a group of individually rare disorders, each risk gene accounting for <1% of cases, threaded by a set of overlapping behavioral or molecular phenotypes. Validated behavioral tests are considered a gold standard for ASD diagnosis, and several animal models (rodents, pigs, and non-human primates) have traditionally been used to study its molecular basis. These models recapitulate the human phenotype to a varying degree and have been indispensable to preclinical research, but they cannot be used to study human-specific features such as protracted neuronal maturation and cell-intrinsic attributes, posing serious limitations to translatability. Human stem cell-based models, both as monolayer 2D cultures and 3D organoids and assembloids, can circumvent these limitations. Generated from a patient's own reprogrammed cells, these can be used for testing therapeutic interventions that are more condition and patient relevant, targeting developmental windows where the intervention would be most effective. We discuss some of these advancements by comparing traditional and recent models of ASD.

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25. Washington-Nortey M, Anum A, Serpell Z, Xu Y, Rusnac I. Exploring parent and service provider expectations for children with autism or intellectual disability: A two-country follow-up study. J Intellect Dev Disabil. 2025: 1-16.

BACKGROUND: Few studies have examined care providers’ expectations for children with autism spectrum disorders or intellectual disability in low-and-middle-income countries. We used data from a qualitative study to inform a quantitative investigation of parents’ and service providers’ expectations for children with autism or intellectual disability in Ghana and Zambia. METHOD: 207 participants completed country-specific surveys examining expectations for children with autism or intellectual disability. Participants rated each expectation statement on two criteria: (i) the perceived importance and (ii) the perceived likelihood of attainment. We investigated differences using multivariate analysis of variance strategies. RESULTS: There were significant differences between parents and service providers in Ghana on the perceived importance of independence, and the likelihood of children with autism or intellectual disability attaining independence, quality education, and community acceptance and inclusion. No significant differences emerged in Zambia. CONCLUSION: The findings and research, policy, and practice implications are discussed.

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26. Xiong NN, Cui ZJ, Zhao M, Du J, Li SJ, Li MH, Lu YY, Liang AM, Ma Y. [Analysis of developmental function in 32 511 children with global developmental delay]. Zhonghua Liu Xing Bing Xue Za Zhi. 2025; 46(6): 1051-7.

Objective: The clinical symptoms of children with global developmental delay (GDD) were analyzed to provide the scientific basis for the intervention of children with GDD. Methods: The results of the neuro-psychobehavioral scale were collected from 32 511 children with GDD from June 2020 to November 2023. Inclusion criteria: Children diagnosed with GDD according to the Diagnostic and Statistical Manual of Mental Disorders-V, ages 0.0 to 4.9 years. Exclusion criteria: children with common hearing impairment and visual impairment. The Chi-square tests were used for statistical analysis. Results: There were more boys than girls with GDD in outpatient clinics (68.2% vs. 31.8%). Among the children, the proportion of developmental delay in 5, 4, 3, and 2 domains was 31.1%, 23.4%, 22.9% and 22.6% respectively. The rate of delay in 2-3 domains was lower in boys (41.9%) than in girls (53.1%). The rate of delay in 4-5 domains was higher in boys (58.1%) than in girls (46.9%) (χ(2)=352.11, P<0.001). Overall, outpatient GDD decreased with age. From 1.0-1.9 to 4.0-4.9 years of age, the proportion of children with developmental delay in 5 domains increased with age (18.2%, 36.4%, 43.9%, 52.4%). Among children aged 0.0-0.9 years, the proportion of 2 domains of developmental delay was higher (33.4%).Among children aged 1.0-1.9 years, the proportion of 2-3 domains of developmental delay was higher (30.7%). Among children aged 2.0-, 3.0-, 4.0-4.9 years, the proportion of developmental delay in 5 domains was higher (36.4%, 43.9%, 52.4%). In children with GDD, the fine motor delay occurred most frequently (85.1%), followed by social self-care (83.9%), language (79.0%), adaptation (62.3%), and gross motor (52.8%). The frequency of developmental delays in fine motor, adaptability, language, and social self-care in boys was higher than that in girls (χ(2)=161.37, χ(2)=41.10, χ(2)=320.90, χ(2)=238.54, all P<0.001). The age groups with the highest delay incidence of gross motor, fine motor, adaptability, language, and social self-care were: 4.0-4.9 years (70.6%), 3.0-3.9 years (97.4%), 4.0-4.9 years (81.2%), 2.0-2.9 years (90.9%),2.0-2.9 years (95.4%). The proportions of fine motor delay in GDD children aged 0.0-0.9, 3.0-3.9 and 4.0-4.9 years were (74.5%, 97.4%, 96.8%) and the proportions of social self-care delay in GDD children aged 1.0- and 2.0-2.9 years were (92.1%, 95.4%). Peripheral and mild developmental delays were predominant in children with GDD. The proportion of severe language delay (6.4%) was higher than that in other fields. Conclusions: The proportion of GDD children with developmental delay in 4-5 domains was 54.5%. The most frequent domain of delay was fine motor. The frequencies of developmental delays in fine motor skills, adaptability, language, and social self-care in boys were higher than in girls. Most of the developmental delays in GDD children were marginal and mild. The rate of severe developmental delay in language was higher than in other domains.

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27. Yamada S, Nakakoga S, Kinzuka Y, Nakagawa Y, Minami T. Discriminating between facial expressions of anger and fear by individuals with high-functioning autism spectrum disorder. Perception. 2025: 3010066251344509.

This study examined the effects of facial color on emotion recognition in individuals with high-functioning autism spectrum disorder compared to typically developing individuals. A total of 34 participants with high-functioning autism spectrum disorder and 39 typically developing individuals underwent two cognitive facial expression tasks using images altered to have a reddish color representing anger. Task 1 required participants to categorize images as either fear or anger as the emotion corresponding to the image, while Task 2 required ranking the images along a continuum from anger to fear. Results showed that individuals with high-functioning autism spectrum disorder exhibited a facial color effect similar to typically developing participants but had lower accuracy in recognizing facial emotions. Interestingly, the color effect was less pronounced in Japanese individuals with autism spectrum disorder when viewing faces of the same race, but more pronounced for unfamiliar European faces. This suggests that individuals with high-functioning autism spectrum disorder may develop compensatory strategies for recognizing facial expressions, and that cultural and racial factors influence emotion perception in individuals with autism spectrum disorder.

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28. Yasseen BA, Abdelkhalek H, Gohar S, Hatem Y, El-Sayed H, Elkhodiry AA, Galal A, Samir A, Al-Shehaby N, Elbenhawi MW, Hamdy R, Prince CS, Kamel AG, Badawy MA, Soliman GF, ElMorsy SA, Gamal El-Din TM, El-Demerdash E, Ali SS, Abdel-Rahman EA. Prenatal modulation of NADPH-oxidase reverses the deranged GABA switch and rescues behavioral deficits in valproate ASD rat model. Front Pharmacol. 2025; 16: 1571008.

INDRODUCTION: Impaired depolarizing-to-hyperpolarizing (D/H) switch of gamma-aminobutyric acid (GABA) is reported during brain development in rodent valproate-model of autism spectrum disorder (VPA-ASD). We hypothesize that this impairment triggers NADPH oxidases (NOXs)-induced reactive oxygen species (ROS) overproduction. METHODS: Here, we followed the impact of prenatal exposure to VPA on the synaptic protein expression of potassium chloride cotransporter 2 (KCC2), sodium potassium chloride cotransporter 1 (NKCC1) and, in brains of male and female Wistar rats during infantile (P15), juvenile (P30) and adult (P60) stages. We also assessed alterations in synaptic NOX isoforms 2 and 4 (NOX2 and NOX4) activities and expressions in developing rat brains. RESULTS: Our findings revealed a significant reduction in KCC2 expression and a concomitant increase in NOX activity and NOX4 expression in synaptosomes of VPA-exposed rats, particularly at P15 and P30. Prenatal exposure to shikonin, (10 mg/kg/day, intraperitoneal (i.p.) into pregnant dam, daily from G12.5 until birth), ameliorated these effects by reducing synaptic protein expression of NOX4, generally quenched synaptic NOX activity and enhanced synaptic protein expression of KCC2. Indeed, shikonin reversed VPA-induced sociability deficits in ASD rats. DISCUSSION: These results suggest that targeting the NOX-ROS pathway may be a potential therapeutic strategy for ASD.

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29. Zhang B, Li X, Qian X, Tang J. De Novo Variant in GBX1 Gene Associated With Developmental Delay and Focal Epilepsy. Mol Genet Genomic Med. 2025; 13(6): e70114.

BACKGROUND: The gastrulation brain homeobox (Gbx) family, including GBX1 and GBX2, is crucial for hindbrain development and contributes to the morphogenesis of the midbrain-hindbrain boundary (MHB). While the role of the GBX1 gene in the development of the human nervous system remains to be elucidated, its variant in humans has not previously been reported to be associated with disease. METHODS: The patient presenting with sleep panic attacks underwent comprehensive clinical assessments, including electroencephalograph (EEG), magnetic resonance imaging (MRI), and genetic testing through whole exome sequencing (WES). Zebrafish models were generated through gbx1 gene crispants to investigate the functional impact of identified genetic variants. RESULTS: The patient in our study was diagnosed with focal epilepsy through long-range EEG. WES revealed a de novo GBX1 gene variant [NM_001098834.3: c.910C>T (p.Gln304*)]. In zebrafish larvae with gbx1 gene disruption, significant abnormalities were observed in the morphology of the interocular area. Furthermore, these larvae exhibited an increased susceptibility to neurophysiological abnormalities associated with epileptiform activity. CONCLUSION: Our study is the first to identify an association between the GBX1 gene variant and focal epilepsy. The zebrafish models confirmed the presence of related phenotypes in the gbx1-Cas9. These findings underscore the significance of the GBX1 gene in neurological function.

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30. Zhang Y, Chien WT, Chan JY, Cheung TY, He Z, Yip KH, Chan DF, Chong JS, Waye MM, Chair SY, Chan TF. Optical genome mapping reveals novel structural variations in an autism spectrum disorder cohort. Comput Struct Biotechnol J. 2025; 27: 2233-42.

Structural variants (SVs) contribute to the genetic architecture of autism spectrum disorder (ASD), but their comprehensive characterization is limited by technological challenges in their detection. Optical genome mapping (OGM) offers a promising alternative, enabling the identification of large-scale SVs that might be overlooked by traditional sequencing methods. This study aimed to use OGM to identify SVs associated with ASD. We generated in-house OGM data from 26 participants diagnosed with ASD, leading to the discovery of 1593 novel SVs. Among them, 114 novel SVs were identified in at least two non-sibling participants, with 57 of them putatively overlapping known gene regions. To validate our findings, two novel SVs were confirmed by Sanger sequencing. The dataset generated in this study can serve as a novel and valuable resource for future research and facilitate the exploration of SVs related to ASD. Our work also underscores the importance of large-scale genomic rearrangements in neurodevelopmental disorders and provides insights into SVs as potential molecular diagnostic and therapeutic targets for ASD.

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