1. Bouaziz N, Poulinet C, Martirosyan A, Toscana S, Lambert AG, Recasens C, Pichon CA, Creantor C, Negrescu L, Frères J, Benoit L, Baleyte JM. Parent-mediated Paediatric Autism Communication Therapy (PACT): a focus group study of parental experience. Child Adolesc Psychiatry Ment Health;2026 (Mar 26)

BACKGROUND: Parent-mediated interventions are increasingly recommended for children with Autism Spectrum Disorder (ASD). This study explores parental experiences of Paediatric Autism Communication Therapy (PACT), a parent-mediated intervention focused on social communication. PACT uses video feedback to analyze parent-child play sequences with the parent and to support parental reflexivity about the most appropriate interactive style for developing their child’s socio-communicative skills. METHOD: We conducted a qualitative study using focus groups with 20 parents, among the 60 families who completed PACT with their children with ASD. Data analysis was conducted using Interpretative Phenomenological Analysis. RESULTS: Five main key themes stand out (1) Video feedback enhanced parental perspective and recognition of children’s emergent skills; (2) Parents transitioned from feeling incompetent to supported and empowered; (3) Daily integration and mutual shared enjoyment reinforced the intervention’s effects; (4) Parent-child play is not a prerequisite that is uniformly present among all parents, yet it is one of the main levers in PACT. Cultural approaches are necessary to support this skill to prevent it from becoming an obstacle to the course of therapy; and (5) PACT had systemic repercussions on partners and siblings we have to deal with to support the engagement of parents who are concerned about this family impact. CONCLUSIONS: PACT was positively received by parents, enhancing their observational skills and sense of competence. However, cultural factors and family dynamics significantly influenced its implementation and outcomes.

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2. Bourke M, Walker JL, Thomas G, Fortnum K, O’Flaherty M. Association Between Healthy Lifestyle Behaviors and Mental Health Symptoms in Children With Autism and ADHD: A Latent Profile Analysis. Autism Res;2026 (Mar 27):e70238.

Healthy lifestyle behaviors, including physical activity, screen time, sleep, and diet quality, are important determinants of mental health, yet little is known about how these behaviors cluster among children with neurodevelopmental disorders. This study identified lifestyle profiles in children with autism and ADHD and examined associations with internalizing, externalizing, and irritability symptoms. Parents of children with a diagnosis of autism and ADHD (n = 523, 7-12 years, 67% male) reported on lifestyle behaviors and mental health outcomes. Latent profile analysis supported a four-profile solution that balanced statistical fit, parsimony, and theoretical interpretability. Profile 1 (19%) was characterized by very high levels of physical activity, moderate sedentary screen time, relatively high sleep, and above average diet quality. Profile 2 (50%) represented a balanced lifestyle, with moderate activity and sedentary screen time, adequate sleep, and the highest diet quality. Profile 3 (20%) showed low activity, elevated sedentary screen time, adequate sleep, and poor diet quality, while Profile 4 (11%) was defined by extremely high sedentary screen time, low activity, adequate sleep, and poor diet. Children in less healthy profiles characterized by high screen time and poor diet quality reported significantly higher internalizing symptoms compared to the highly active group. However, externalizing symptoms were highest in the highly active profile, and irritability was lowest in the balanced profile relative to both high activity and high screen time groups. Findings suggest that while very high physical activity may protect against internalizing symptoms, a balanced lifestyle combining moderate activity, limited screen use, adequate sleep, and good diet quality may best mental health in children with autism and ADHD.

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3. Buchignani B, Mercuri EM. Challenges in assessing autism spectrum disorder in spinal muscular atrophy type 1. Dev Med Child Neurol;2026 (Mar 27)

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4. D’Acunto MG, Di Sarno C, Lenzi F, Liboni F, Ricci M, Narzisi A, Masi G, Mucci M. Autism, Intellectual Disability and Suicide Risk in Adolescent Psychiatric Emergencies: A Two-Year Retrospective Cohort Study. Brain Sci;2026 (Feb 24);16(3)

BACKGROUND: Adolescents with neurodevelopmental disorders (NDDs), particularly autism spectrum disorder (ASD) and borderline intellectual functioning/intellectual disability (BIF/ID), represent a clinically complex population in psychiatric emergency settings, with unclear contributions to acute psychopathology and suicide risk. AIMS: This study examined whether ASD and BIF/ID differentially influence clinical severity, psychopathological profiles, and suicidality in adolescents admitted for psychiatric emergencies, comparing high-functioning ASD, ASD with cognitive impairment, and adolescents without NDDs. METHODS: We conducted a retrospective, single-center cohort study including 206 consecutive patients aged 11-17 years admitted to a psychiatric emergency unit between January 2022 and December 2023. Patients were stratified into four groups: ASD (ASD-HF; ASD-BIF/ID), BIF/ID and N-ASD/N-BIF/IDClinical severity, global functioning, psychiatric diagnoses, adverse childhood experiences, emotional dysregulation, and suicidality were assessed using standardized diagnostic and behavioral measures. Group comparisons were performed to identify predictors of suicidality. RESULTS: ASD-BIF/ID patients exhibited the lowest global functioning, whereas ASD-HF adolescents showed functioning comparable to controls. Suicidal ideation and behaviors were significantly more frequent in ASD-HF. BIF/ID was associated with greater behavioral impairment and lower suicidality. CONCLUSIONS: ASD and BIF/ID may differentially shape psychiatric emergency presentations. Adolescents with high-functioning ASD showed a higher prevalence of suicidality in this specific clinical context. LIMITS: This study is limited by its cross-sectional, single-center, and retrospective design, small and uneven subgroup sizes, and assessment tools not specifically validated for autistic or intellectually disabled populations. The high prevalence of bipolar spectrum disorders may reflect referral bias. Despite these limitations, adolescents with high-functioning ASD exhibited elevated suicidality, underscoring the importance of risk assessment adapted to cognitive and diagnostic profiles.

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5. Dell’Osso L, Nardi B, Calvaruso M, Lohse A, Pronestì C, Bonelli C, Massimetti G, Cremone IM, Luciano M, Pini S, Fiorillo A, Carpita B. PTSD Symptoms Are Associated with a Greater Use of Social Camouflaging Strategies in an Eating Disorder Sample with Elevated Autistic Traits. Brain Sci;2026 (Mar 11);16(3)

Background: Eating disorders (EDs) frequently co-occur with trauma-related symptoms and elevated autistic traits (ATs), both of which contribute to clinical complexity. Social camouflaging, strategies used to mask or compensate for ATs, has been increasingly described in ED populations, yet its relationship with trauma-related symptoms remains poorly understood. This study aimed to examine the association between social camouflaging and post-traumatic stress symptoms in individuals with EDs and to evaluate whether trauma-related symptomatology is associated with camouflaging behaviors. Methods: A total of 67 ED patients were assessed using the Adult Autism Subthreshold Spectrum, the Trauma and Loss Spectrum-Self Report (TALS-SR), the Camouflaging Autistic Traits questionnaire (CAT-Q), and the Eating Disorder Inventory (EDI-2). Participants were divided into high-trauma-symptoms (HTS) (N = 36, 53.7%) and low-trauma-symptoms (LTS) (N = 31; 46.3%) groups based on TALS-SR criteria. Results: The sample was predominantly female (92.5%), and gender distribution differed between groups, which may represent a potential confounding factor and limits the generalizability of the findings. The HTS group reported significantly higher TALS-SR, EDI-2, CAT-Q, and AdAS Spectrum scores, although for the latter the p-value was barely significant (p = 0.046). No differences emerged in the distribution of ED diagnoses between groups. CAT-Q scores were significantly positively correlated with TALS-SR total scores and with domains related to reaction to losses, maladaptive coping, avoidance/numbing, and personal vulnerability. Regression analyses showed that overall trauma-related symptoms were significantly associated with greater camouflaging; however, the proportion of explained variance was modest, suggesting that trauma-related symptoms represent only one of multiple factors linked to camouflaging. Conclusions: Among individuals with EDs, higher trauma-related symptomatology is linked to greater use of social camouflaging strategies. These findings suggest that camouflaging may represent a transdiagnostic correlate connecting neurodevelopmental vulnerability and trauma responses within ED populations, underscoring the importance of integrated assessment and trauma-informed care.

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6. Doi H, Nakamura Y, Nakai A, Kanai C, Ohta H. Comparison of cognitive ability and its distribution between men with autism spectrum disorder and attention-deficit/hyperactivity disorder. PLoS One;2026;21(3):e0345522.

OBJECTIVES: Clarification of the strengths and weaknesses of cognitive ability is essential to our understanding of the characteristics of autism spectrum disorder and attention deficit/hyperactivity disorder. However, whether individuals with these conditions exhibit distinct patterns of cognitive ability remains unclear. To address this point, we aimed to compare the cognitive profiles of patients with autism spectrum disorder with those of patients with attention deficit/hyperactivity disorder by placing special emphasis on the distribution of cognitive function within each group. METHODS: This study compared the Wechsler Adult Intelligence Scale index scores of men with autism spectrum disorder and attention deficit/hyperactivity disorder. A machine learning model was trained to classify autism spectrum disorder and attention deficit/hyperactivity disorder based on the subtest scores. The conformity of the within-group distribution of each index score to a normal distribution was also tested. RESULTS: Individuals with autism spectrum disorder scored higher than those with attention deficit/hyperactivity disorder in the Verbal Comprehension Index and Working Memory Index, while the opposite pattern was observed for the Perceptual Organization Index. The classification performance of the machine learning model was above chance level. The distributions of the Verbal Comprehension Index and Perceptual Organization Index deviated significantly from a normal distribution only in the autism spectrum disorder group. The results of Gaussian mixture clustering indicated that men with autism spectrum disorder could be divided into two distinct clusters based on their Verbal Comprehension Index scores. CONCLUSIONS: Our findings indicate that men with autism spectrum disorder and attention deficit/hyperactivity disorder show distinct cognitive profile patterns from each other. The distribution of some of the index scores deviated from the normal distribution only in autism spectrum disorder, which supports the view that autism spectrum disorder comprises heterogeneous subgroups with different cognitive profiles.

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7. El Hayek L, Gogate A, Chen WC, Kaur K, Zaki MS, De Wachter M, Van Schil K, Dublin-Ryan L, Zamani M, Bartos MN, Hiatt SM, Courdier C, Michaud V, Kenny J, Day M, Pang L, Nasab ME, Madani Manshadi SA, Eslahi A, Rasoul MA, Sanchez-Mendoza EH, DeLuca C, Marafi D, Stevens SJC, Ivanovski I, Frey T, Steindl K, Rauch A, O’Connor K, Velinov M, Shen X, Janssen EJM, Sedighzadeh S, Kordi-Tamandani DM, Khajeh A, Elshafie RM, Bastaki L, Misra VK, Firoozfar Z, Goldenberg PC, Toosi MB, Mojarrad M, Kavanagh K, Koboldt DC, Margot H, Hurst ACE, Weber A, Bergmann C, Houlden H, Maroofian R, Weis D, Ceulemans B, Chahrour MH. Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder. HGG Adv;2026 (Mar 25):100594.

Chromatin regulation is critical for neurodevelopment, and its disruption has emerged as a key pathogenic mechanism in neurodevelopmental disease, including autism spectrum disorder (ASD), a condition known for genetic and phenotypic heterogeneity. We previously identified an ASD gene, KDM5A, encoding a histone H3 lysine 4 demethylase, and reported de novo and inherited variants in nine individuals with severe ASD and other neurodevelopmental phenotypes. Here, we expand the genetic and phenotypic spectrum of KDM5A-related neurodevelopmental disorders and investigate the functional impact of identified variants. Through international collaborations, we assembled a cohort of 24 additional individuals from 21 families with rare, protein-altering KDM5A variants. All individuals presented with severe speech impairment and intellectual disability, often alongside ASD and other neurodevelopmental features. The variants include missense, nonsense, frameshift, and splice site, distributed across nearly all functional domains of the protein. Structural modeling revealed localized conformational disruptions, particularly at conserved residues in enzymatic or chromatin-interacting domains. For a subset of variants, we demonstrated reduced KDM5A protein levels in cell lines derived from affected individuals. Transcriptomic profiling revealed variant-specific gene expression changes, most pronounced in variants affecting the PLU1 chromatin binding motif and the Jumonji C domain of the enzymatic core. American College of Medical Genetics and Genomics-guided reclassification supported pathogenicity for the majority of variants, including multiple upgrades from uncertain significance to pathogenic or likely pathogenic. Together, these findings implicate diverse KDM5A alleles in a rare but recurrent form of ASD, and establish KDM5A as a key regulator of neurodevelopment and chromatin-mediated ASD pathogenesis.

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8. Franch M, Katlowitz KA, Mickiewicz EA, Belanger JL, Mathura RK, Zhu H, Yan X, Ismail T, Chavez AG, Chericoni A, Paulo D, Bartoli E, Fraczek T, Provenza NR, Sheth SA, Hayden BY. Neural signatures of impaired semantic contextualization in Autism Spectrum Disorder. bioRxiv;2026 (Mar 19)

Social and communicative deficits are defining characteristics of Autism Spectrum disorder (ASD). Some theories suggest that these challenges, among other autistic traits, may arise from differences in predictive coding, or how the brain uses context to predict and interpret incoming information. This idea has the potential to link symptoms of autism to specific neurocomputational processes, and is especially promising for communication, whose impairment is a hallmark of ASD. Here we leveraged the ability of large language models (LLMs) to quantify semantic contextualization to analyze a unique dataset of responses from hippocampal neurons obtained during language listening in three mild-to-severe autistic patients with comorbid epilepsy. Key elements of semantic coding were preserved in all three patients: single-neuron response dynamics, representation of word-word semantic relationships, and patterns of context-dependent shifts in meaning. However, relative to controls, ASD resulted in reduced neural signatures of contextualization: (1) neuronal responses were aligned with earlier, less contextual layers of GPT-2, (2) ASD patients had lower effective dimensionality of the neural subspace predicting semantics, (3) neural representations of word meaning were less influenced by preceding context, and (4) neural signatures of lexical surprisal were reduced. Together, these results support theories of autism that emphasize impairments in contextualization, and highlight the power of LLMs as a tool for quantifying the computational basis of neurodevelopmental disorders.

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9. Fujita-Jimbo E, Kawahara G, Momoi T. Foxp2 mutations and abnormal brain and gastrointestinal development: insights from animal models of speech-language and autism spectrum disorders. Front Neuroanat;2026;20:1783101.

Autism spectrum disorder (ASD) and speech and language disorder (SLD) are distinct neurodevelopmental conditions, yet both share overlapping communication impairments. Forkhead box P2 (FOXP2), a key transcription factor involved in speech and language development, harbors pathogenic mutations such as R553H, which cause SLD and have been suggested to contribute to aspects of ASD-related phenotypes. This review synthesizes insights from animal models to explore the molecular mechanisms by which Foxp2 mutations disrupt the development of the cerebral cortex, thalamus, and enteric nervous system. We highlight findings from heterozygous Foxp2 mutants and discuss severe phenotypes observed in homozygous Foxp2 mutants (Foxp2(R552H/R552H) and Foxp2(R552H/R552H)/mCherry-Tg mice), including profound ultrasonic vocalization deficits, brain malformations, and early lethality. Notably, these mice exhibit gastrointestinal abnormalities involving the epithelium, smooth muscle, and enteric nervous system, which are linked to impaired autoregulation and interference with Wnt signaling during development. Such observations underscore the relevance of the brain-gut-microbiome axis and Hirschsprung-like pathology in neurodevelopmental disorders. Finally, this review discusses future directions using gene-editing approaches in non-mammalian models-zebra finches, zebrafish, and Drosophila-to dissect neural networks underlying intellectual disability and communication deficits. Collectively, these studies provide a framework for understanding FOXP2-related molecular mechanisms in the pathogenesis of ASD and SLD.

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10. García-Rubio MJ, Costa MA, Zamora ML, Villagrasa AC. Parental Stress and Child Well-Being in Autism, Epilepsy, and Their Comorbidity: A Comparative Study. J Autism Dev Disord;2026 (Mar 27)

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11. Gele A, Duale HA. Somali and Eritrean parents experiences and challenges in the diagnosis and early intervention of autism spectrum disorder in Norway. BMC Pediatr;2026 (Mar 26)

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12. Guffanti A, Leonardi M, Brondino N, Dell’Osso B, Martiadis V, Olivola M. Efficacy and Safety of Intranasal Esketamine in Treatment-Resistant Depression with Comorbid Autism Spectrum Disorder: Three Case Reports. Clin Pract;2026 (Mar 13);16(3)

INTRODUCTION: Major depressive disorder (MDD) is a leading cause of disability worldwide and contributes significantly to the global burden of disease. Recent data show an increasing prevalence of treatment-resistant depression (TRD). Patients with autism spectrum disorder (ASD) often exhibit MDD as a comorbidity and it is often resistant to conventional treatments. ASD determines emotional dysregulation and a reduced ability to understand mental states (mentalization). These features can lead to suicidal ideation and/or behavior. Intranasal esketamine may offer a novel therapeutic option for this population. METHODS: This case series focuses on the clinical response to intranasal esketamine in patients with autism and TRD; esketamine is approved in Italy as an add-on therapy in TRD, so our case study is based on an in-label treatment. Three young patients (n = 3, F/M 2:1, age range 20-25 y) with light to moderate autism (Level 1 or 2) were treated. Esketamine was administered in augmentation with selective serotonin reuptake inhibitors (SSRIs) or serotonin-norepinephrine reuptake inhibitors (SNRIs) in accordance with EMA/AIFA guidelines. A structured follow-up protocol was set to monitor depressive symptoms, social cognition, and mentalization. Follow-up during treatment was maintained for six months, and psychometric evaluations were performed at six time points: baseline (T0), 1 week (T1), 1 month (T2), 2 months (T3), 3 months (T4), and 6 months (T5). Also, subjective quality of life was investigated before and after the observation period. RESULTS: Despite differences in clinical profile, all patients showed good efficacy of esketamine in reducing depressive symptoms: two patients experienced clinical remission at T5 (MADRS < 10), one patient showed partial response (dMADRS = 43.24%). No major side effects were reported. Significant improvements were observed after the first week of treatment (P1: MADRS_T0 = 37, MADRS_T1 = 12; P2: MADRS_T0 = 32, MADRS_T1 = 21; P3: MADRS_T0 = 25, MADRS_T1 = 12). Depressive relapses occurred (e.g., P1, T3-T4), but they were not associated with hospitalizations and/or suicidal attempts. Suicidal ideation, when present, decreased by the end of the follow-up period. Lack of mentalization and in social cognition was noted, with just mild improvements during therapy. Subjective quality of life improved significantly for all patients (P1: 28% at T0, 73% at T5. P2: 25% at T0, 71% at T5. P3: 35% at T0, 80% at T5). CONCLUSIONS: Intranasal esketamine showed a favorable efficacy and safety in these three cases of TRD in comorbidity with ASD (at six months: total remission = 66.66%, partial remission = 33.33%, inefficacy = 0%, drop-out = 0, severe adverse events = 0). Besides improvements in depressive symptoms, esketamine was associated with a constant decrease in suicidal thoughts. A case series is unfit to form statistical conclusions; preliminary data warrant further investigation in randomized controlled studies to validate the therapeutic potential of esketamine in this population.

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13. Hammash NM, Younis MC. A Hierarchical Multi-View Deep Learning Framework for Autism Classification Using Structural and Functional MRI. J Imaging;2026 (Mar 4);12(3)

Autism classification is challenging due to the subtle, heterogeneous, and overlapping neural activation profiles that occur in individuals with autism. Novel deep learning approaches, such as Convolutional Neural Networks (CNNs) and their variants, as well as Transformers, have shown moderate performance in discriminating between autism and normal cohorts; yet, they often struggle to jointly capture the spatial-structural and temporal-functional variations present in autistic brains. To overcome these shortcomings, we propose a novel hierarchical deep learning framework that extracts the inherent spatial dependencies from the dual-modal MRI scans. For sMRI, we develop a 3D Hierarchical Convolutional Neural Network to capture both fine and coarse anatomical structures via multi-view projections along the axial, sagittal, and coronal planes. For the fMRI case, we introduced a bidirectional LSTM-based temporal encoder to examine regional brain dynamics and functional connectivity. The sequential embeddings and correlations are combined into a unified spatiotemporal representation of functional imaging, which is then classified using a multilayer perceptron to ensure continuity in diagnostic predictions across the examined modalities. Finally, a cross-modality fusion scheme was employed to integrate feature representations of both modalities. Extensive evaluations on the ABIDE I dataset (NYU repository) demonstrate that our proposed framework outperforms existing baselines, including Vision/Swin Transformers and various newly developed CNN variants. For the sMRI branch, we achieved 90.19 ± 0.12% accuracy (precision: 90.85 ± 0.16%, recall: 89.27 ± 0.19%, F1-score: 90.05 ± 0.14%, and focal loss: 0.3982). For the fMRI branch, we achieved an accuracy of 88.93 ± 0.15% (precision: 89.78 ± 0.18%, recall: 88.29 ± 0.20%, F1-score: 89.03 ± 0.17%, and focal loss of 0.4437). These outcomes affirm the superior generalization and robustness of the proposed framework for integrating structural and functional brain representations to achieve accurate autism classification.

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14. Howard D, McCarthy AM. The Value of Non-Domination in Supported Decision-Making for Research Participation for Individuals with Intellectual and Developmental Disabilities. J Law Med Ethics;2026 (Mar 27):1-11.

This paper argues that research ethics for individuals with intellectual and developmental disabilities must attend to the value of non-domination. First, we highlight the role of domination in the history of abusive research practices against individuals with intellectual and developmental disabilities, practices which directly led to existing protections for this vulnerable population. Second, we argue that existing protections do not adequately safeguard potential participants from domination in decision-making about whether to participate. This is a distinct concern from the well-established criticisms that existing protections may wrongfully exclude potential participants. Finally, we outline and defend an account of supported decision-making grounded in the value of non-domination in order to safeguard potential participants from domination. Our account nonetheless preserves supported decision-making’s possibilities for greater inclusion of individuals with intellectual and developmental disabilities in research participation.

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15. Huang D, Wang Z, Jian-Wen Chen M, Bay A, Uzzo RN, Dykhouse G, Durbas A, Pezzi A, Owusu-Sarpong S, Colon LF, Araghi K, Singleton Q, Musharbash F, Halayqeh S, Cunningham ME, Kim HJ, Lovecchio FC. Does Preoperative Spinal Alignment Influence Surgical Outcomes When Postoperative Alignment and Fixation Strategies Are Matched in ASD Correction?. Spine (Phila Pa 1976);2026 (Mar 20)

STUDY DESIGN: Retrospective study. OBJECTIVE: To evaluate whether the extent of correction influences outcomes following adult spinal deformity (ASD) surgery using a matched-pair analysis. SUMMARY OF BACKGROUND DATA: Alignment targets are often based on achieving absolute values. However, the amount of correction may also influence outcomes. Existing studies are limited by methodological flaws, including multicollinearity and oversimplified modeling of correction. METHODS: We included ASD patients who underwent fusion (≥5 levels) with a UIV between T1-L1 at a single center (2013-2023), with ≥1-year follow-up. Clinical, radiographic, and surgical outcome data were collected. Patients were 1:1 matched based on T4-L1PA mismatch and L1PA offset (±3°), UIV region (upper vs. lower thoracic), and pelvic fixation status (yes/no). Collected variables were then transformed into within-pair differences (Δ) (absolute value) (for continuous/ordinal variables) or classified as concordant/discordant (for binary variables). Outcomes were analyzed as within-pair Δ or concordance using linear or logistic regression, respectively, with within-pair Δpreoperative alignment as the main predictor and clinical covariates adjusted. RESULTS: A total of 114 patients were matched for similar postoperative sagittal alignment and fixation strategy, forming 57 pairs. Among matched pairs, the average within-pair Δpreoperative alignment (reflecting correction magnitude) were as follows: Δmax Cobb 24.2±18.2°, ΔSVA 76.6±53.2 mm, median ΔL1PA offset 5.0° (IQR 2.3-8.2°), and ΔT4-L1PA 6.9±4.7°. No significant associations were observed between within-pair Δpreoperative alignment and ΔODI, Δlength of stay, or Δoperative time. Similarly, within-pair Δpreoperative alignment did not influence binary outcomes including PJK, PJF, reoperation, complications, or discharge disposition. CONCLUSION: In patients who achieved similar postoperative alignment and fixation strategies, the baseline deformity (or the amount of correction) did not independently affect postoperative outcomes. Achieving target postoperative alignment rather than the extent of correction should remain the primary focus of surgical planning to optimize recovery and reduce complication risk. LEVEL OF EVIDENCE: level III.

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16. Hurtubise K. Critically Appraised Paper: In children with mild autism, non-immersive virtual reality combined with traditional physiotherapy is superior to traditional physiotherapy alone for improving balance and postural control [commentary]. J Physiother;2026 (Mar 25)

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17. Jack A, Gupta AR. Task-based functional connectivity in striato-motor-cortical system in autism: Associations with sex and executive function. bioRxiv;2026 (Mar 16)

Previously we found that female autistic youth (Aut-F) showed reduced brain response in dorsal striatum (putamen) when viewing human motion, alongside larger rare copy number variants that included genes expressed in early striatal development. Thus, striatal differences may characterize Aut-F, but broader systems-level and behavioral implications of these differences remain unexplored. We conducted secondary data analysis of the sex-balanced cohort (8-17y) in which we first discovered these patterns, in order to: 1) understand how functional connectivity between putamen and frontal targets might vary from the non-autistic population, and differ by sex; and 2) explore which brain connectivity and phenotypic features best predicted executive function. Using psychophysiological interaction analysis ( N =184), we found that Aut-F youth ( n =45) showed reduced functional connectivity between left anterior putamen (Pa) and dorsal premotor cortex/pre-supplementary motor area versus matched non-autistic female peers (NAut-F; n =45), suggesting reduced engagement of a typical Pa-frontal pathway for attentional regulation. Best subsets regression ( N =200) indicated that left Pa-left dorsolateral prefrontal functional connectivity explained significant variance in executive functioning across all participants, controlling for neurotype. These results suggest that striatal differences in Aut-F may have adaptive consequences in part due to impacts on connectivity between Pa and frontal regions important for attentional control. LAY SUMMARY: We previously found that female autistic people show differences in a part of the brain called the striatum. Some parts of the striatum connect to the frontal lobe of the brain, and may help people control their attention and behavior. We studied how the striatum « talked to » the frontal lobe in autistic girls. We found out that this communication is lower in autistic than non-autistic girls. We also found out that how much striatum « talks to » frontal lobe helps explain differences in how well both autistic and non-autistic youth of both sexes control their attention and behavior.

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18. Kadlaskar G, King SE, Stewart JR. Sensory Reactivity in Children Referred for Autism Evaluation: Associations with Autism Symptoms and Adaptive Skills. Brain Sci;2026 (Mar 14);16(3)

BACKGROUND: The present study examines sensory differences in children referred for autism evaluations and explores associations between sensory differences, autism symptomatology, and adaptive skills. Using a clinically referred sample, this study captures the heterogeneity of diverse developmental profiles observed in everyday clinical practice and provides a nuanced understanding of sensory differences in an ecologically valid way in the context of autism assessments. METHODS: Participants included 238 children (41 females/3-14 years), referred to a university-based autism clinic due to concerns related to autism. Autism diagnoses were confirmed using the Autism Diagnostic Observation Schedule-2, DSM-5 criteria, and expert clinical judgement informed by comprehensive multidisciplinary evaluation. Additional measures were collected to obtain information on sensory processing (Sensory Profile-2/SP-2) and adaptive functioning (Vineland-II/-3). Diagnostic outcomes were classified as autism (n = 121) versus non-autism (n = 117). RESULTS: Non-autistic children scored higher than autistic children in sensory avoiding and sensitivity, with no group differences in sensory seeking or registration as measured by the SP-2. Correlational analysis showed negative associations between sensory differences and both autism symptomatology and adaptive functioning. Regression analysis further indicated that higher sensory differences predicted lower adaptive functioning, with sensory sensitivity showing the most widespread associations across communication, daily living skills, and socialization. CONCLUSIONS: Non-autistic children exhibited greater sensory avoiding and sensitivity than autistic children, which may possibly reflect co-occurring concerns such as anxiety or attentional difficulties (e.g., avoiding noisy environments due to anxiety rather than sensory sensitivity). Across groups, higher sensory differences showed consistent associations with lower adaptive functioning, highlighting the importance of assessing sensory behaviors in children with diverse clinical profiles.

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19. Lacroix A, Burnel M, Baciu M, Occelli P, Perrone-Bertolotti M, David M, Ego A. School participation in autistic girls and boys: The role of social-communication abilities and extrinsic barriers. Autism;2026 (Mar 27):13623613261428668.

This study aimed to offer a depiction and comprehensive understanding of school participation in autistic youth, which has received limited exploration. Parents of 871 autistic youth aged 7 or 15 were invited to participate in a study, among whom 600 agreed, allowing data collection on diagnosis, comorbidities, school, professional support, and parental characteristics. They were asked to fill in questionnaires assessing executive functions, social-communication difficulties, and school participation, completed by 241. Structural equation modeling and descriptive methods were employed to examine factors influencing school participation and the desire for change. Social-communication abilities stand out as the sole intrinsic determinant associated with school participation. Being a female and having an intellectual disability might negatively impact mainstream school attendance, without exerting a similar influence on activity attendance and involvement. Caregivers identified school demands and the sensory environment as extrinsic barriers to school participation, while teachers’ attitudes and peer relationships were seen as both potential barriers and facilitators. Finally, 36%-58% indicated a desire for increased participation in at least one school activity. Our findings highlight the need to reduce stigma around autism, improve school support, and give special consideration to the schooling experiences of autistic girls.Lay AbstractSchool participation factors in autism have received limited attention. We examined this question using structural equation modeling and descriptive methods. Our findings indicate that heightened social-communication difficulties, rather than executive dysfunctions and comorbidities, are associated with decreased school participation of autistic youths. Furthermore, exploratory analyses showed that being female and having an intellectual disability negatively affect attending mainstream school for autistic children and teenagers, but not their attendance and involvement in school activities. Caregivers point out school demands, sensory environment, and teachers’ and peers’ attitudes as major factors affecting participation, often expressing a desire for increased participation for their child. These results hold significant implications for improving educational environments for autistic girls and boys.

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20. Lassebro B, Morin M, Yin W, Sandin S, Ådén U. Modified Checklist for Autism in Toddlers in a Neonatal High-Risk Population. JAMA Netw Open;2026 (Mar 2);9(3):e263672.

IMPORTANCE: Autism spectrum disorder (ASD) is a chronic neurodevelopmental condition with both genetic and environmental origins. Early detection is crucial for successful clinical intervention, improving future health, and adaptive functioning. OBJECTIVE: To assess the diagnostic accuracy of the Modified Checklist for Autism in Toddlers (M-CHAT) in a neonatal high-risk population using subsequent clinical ASD diagnoses as the reference standard and to identify factors associated with the checklist’s accuracy within this group. DESIGN, SETTING, AND PARTICIPANTS: This prospective, population-based cohort study identified children born in Sweden between January 1, 2013, and December 31, 2019, from the Swedish Neonatal Quality Register. Children were included if they were screened for autism using the checklist at corrected age 16 to 30 months. Follow-up for ASD in the National Patient Register extended from the day after inclusion or chronologic age 2 years, whichever occurred last, until December 31, 2022. Data were analyzed between June 6, 2024, and June 16, 2025. EXPOSURE: Autism screening with the M-CHAT at 24-month neonatal follow-up. MAIN OUTCOMES AND MEASURES: The primary outcome was the first recorded ASD diagnosis within the Swedish health care system among children categorized into the following neonatal high-risk groups: extremely preterm, small for gestational age, morphologic brain damage, neonatal encephalopathy, or other severe morbidity at birth. Diagnostic accuracy of the checklist was estimated using sensitivity, specificity, positive predictive value, and negative predictive value. RESULTS: Among the 2178 children included in the study (median [IQR] corrected age at assessment, 26 [23-30] months; 1210 boys [55.6%]), 263 (12.1%) had positive screens. The overall sensitivity of the checklist was 62.4% (95% CI, 54.3%-69.7%); specificity, 91.2% (95% CI, 90.1%-92.4%), positive predictive value 31.4% (95% CI, 26.0%-37.1%), and negative predictive value 97.4% (95% CI, 96.7%-98.0%). Within the neonatal high-risk groups, children born extremely preterm had the highest proportion of positive screens and ASD diagnoses. CONCLUSIONS AND RELEVANCE: This cohort study found that in high-risk neonates, the M-CHAT had high specificity but moderate sensitivity when evaluated against later ASD diagnoses, highlighting the need for additional tools to improve detection.

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21. Li Q, Zhang J, Lyu X, Zou L, Yuan M, Yan J, Wan X, Yang Y, Xu W, Xie J. Combined Maternal and Offspring Vitamin D3 Supplementation Ameliorates Autism-Like Behaviors via VDR Pathway Activation, Neuroinflammatory Suppression, and Metabolic Homeostasis Restoration. Int J Gen Med;2026;19:573081.

BACKGROUND: Autism Spectrum Disorder (ASD) is a widespread neurodevelopmental disorder with no approved medications targeting its core symptoms. Based on the « dual-hit » hypothesis combining Maternal Immune Activation (MIA) and Maternal Separation (MS), this study investigated whether combined maternal and offspring vitamin D3 supplementation could ameliorate autism-like behaviors by modulating the VDR pathway, neuroinflammation, and metabolic homeostasis. MATERIALS AND METHODS: A « dual-hit » ASD mouse model was established in C57BL/6 offspring by combining maternal immune activation (MIA) with maternal separation (MS). Pregnant mice were randomly allocated into three groups (n = 5 per group): Control, Model (MIA+MS), and Intervention (MIA+MS + high vitamin D diet). Offspring in the intervention group continued to receive vitamin D supplementation post-weaning (from 3 weeks of age) until 8 weeks. Offspring behavioral tests were conducted on postnatal days 42-56, with the litter serving as the unit of analysis. Serum, brain tissue, colon contents, and liver samples were subsequently collected and analyzed using ELISA, Western blot, LC-MS, and immunohistochemistry. RESULTS: Compared with controls, MIA+MS offspring exhibited significant social deficits, anxiety, and repetitive behaviors. Combined vitamin D supplementation markedly improved social preference (P<0.0001), reduced anxiety (P<0.001), and decreased repetitive behaviors (P < 0.05). It also upregulated VDR expression in the brain (P<0.01), reduced neurotoxic metabolites (indoxyl sulfate, 6-phosphogluconic acid, and kynurenine pathway intermediates), lowered pro-inflammatory cytokines (IL-1β (P<0.001), IL-6 (P<0.001), TNF-α (P<0.001)), and restored carnitine metabolic homeostasis by modulating TMLHE expression and function. CONCLUSION: Combined maternal and offspring vitamin D3 supplementation significantly improves autism-like behaviors in a "dual-hit" ASD model. The observed protective effects may involve activation of the VDR pathway, reduction of neuroinflammation and neurotoxic metabolites, and systemic restoration of immune and metabolic homeostasis. These findings suggest the potential utility of vitamin D in ASD prevention and intervention, warranting further investigation.

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22. Li Z, Wang L. A Dual-Stream Transformer with Self-Supervised Contrastive Training for fMRI-Based Autism Spectrum Disorder Classification. Brain Sci;2026 (Feb 28);16(3)

Background/Objectives: Autism Spectrum Disorder (ASD) diagnosis is difficult due to heterogeneity. Current Time-series Transformer (TST) methods cannot capture both dynamic and global brain connectivity simultaneously, which limits ASD classification performance. Methods: We propose TwoTST, a dual-stream Transformer that combines raw Region of Interest(ROI) time series and Pearson correlation matrices(PCC).We pre-train the two TST branches via self-supervised learning by randomly masking ROIs and PCC, use contrastive learning and fine-tuning for feature alignment, evaluate five fusion strategies, and analyze relative parameter changes during fine-tuning. Results: Experiments were conducted on the ABIDE I dataset using the CC200 atlas. Contrastive learning, pre-training, and the dual-stream structure improve mean AUC by 3-6%, 3-7%, and 3-4% respectively. Attention Pooling is the optimal fusion strategy. Relative parameter changes are 0.32-0.44 for TST modules and 0.31-1.45 for contrastive projection heads. Conclusions: TwoTST effectively integrates dynamic and global connectivity for ASD identification. The proposed design outperforms single-stream models and provides a reliable approach for neuroimaging-based disorder classification.

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23. Lin LY, Jin YR, Yu WH, Lai PC, Tu YF. Motor and Cognitive Profiles in Children Who Are Three to Six Years Old and Have Autism Spectrum Disorder and Other Developmental Disabilities. Phys Ther;2026 (Mar 27)

IMPORTANCE: The debate on whether different motor and cognitive profiles of children with autism spectrum disorder (ASD) reflect distinct patterns of comorbidities with significant implications continues in autism research. OBJECTIVE: The aim of this study was to determine the motor and cognitive profiles of children with ASD alone as well as those with ASD and comorbid developmental disabilities. Additionally, it was assessed whether the cognitive abilities were linked to the motor performance of children with ASD. DESIGN: This study was a secondary analysis of a retrospective cohort. SETTING: The setting was a multidisciplinary outpatient clinic in Taiwan. PARTICIPANTS: Diagnostic groups included ASD (n = 263), intellectual disability (ID; n = 95), attention deficit hyperactivity disorder (ADHD; n = 222), ASD plus ID (ASD + ID; n = 77), ASD plus ADHD (ASD + ADHD; n = 74), and speech/language delay (SLD; n = 396). RESULTS: Children with ASD, ASD + ADHD, and SLD performed significantly better than those with ID and ASD + ID on the Wechsler Preschool and Primary Scale of Intelligence-Fourth Edition test for cognitive abilities. The ASD + ID group exhibited the most pronounced motor deficits, with 89.6% of children experiencing difficulties. Significant associations were found between cognitive abilities and motor skills within the ASD, ASD + ID, and ASD + ADHD groups. Multiple regression revealed that visual-spatial ability predicted motor performance across all groups, while verbal comprehension was a significant predictor of motor performance in the ASD + ID, ID, and SLD groups. Working memory was an important predictor of motor performance in the ASD, ASD + ADHD, and SLD groups. CONCLUSIONS: These findings highlight that children with ASD and comorbid developmental disabilities present unique motor and cognitive profiles. RELEVANCE: The relationship between specific cognitive domains and motor skills suggests that individual cognitive profiles may help identify distinct etiological subtypes of ASD and associated comorbidities and provide a cognitively informed basis for physical therapy decision-making in early childhood.

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24. Liu J, Wu Y, Wang Z, Deng Y, Jin Z, Sun X, Jiang Y, Wang G, Zhang M, Jiang F, Wang G. Watching Together, Yet Feeling Apart: Interpersonal Neural Synchronization as a Marker of Symptom Severity in Children With Autism Spectrum Disorder During Naturalistic Viewing. Hum Brain Mapp;2026 (Apr 1);47(5):e70503.

Social interaction impairments in autism spectrum disorder (ASD) have been widely attributed to deficits in empathy, including both cognitive and affective components. However, the underlying neural mechanisms remain incompletely understood. In the current study, we used functional near-infrared spectroscopy (fNIRS) hyperscanning to simultaneously measure brain activities in children with ASD or typical development (TD) and their mothers while they co-viewed the animated film Partly Cloudy. Results revealed that compared to TD children, children with ASD exhibited significantly reduced interpersonal neural synchronization (INS), that is, desynchronization, in the frontopolar area and right dorsolateral prefrontal cortex (DLPFC) during scenes involving theory of mind (ToM) and pain-related events. Notably, TD children showed enhanced INS in the right DLPFC, with significant group differences. Moreover, the right DLPFC INS negatively correlated with ASD symptom severity and mediated the relationship between group and symptom severity. Inter-brain functional connectivity analysis revealed that, during empathy-related events, children’s frontopolar area/right DLPFC and maternal brain regions were reduced in ASD but enhanced in TD dyads, with significant group-level contrasts. Finally, using support vector machine (SVM) classification, we found that INS features in the right DLPFC during empathy scenes could accurately distinguish between ASD and TD children. This study offers novel insights into the neural basis of empathy deficits in ASD by examining mother-child INS in a naturalistic setting. These findings provide preliminary insights into the neural mechanisms of INS in ASD and may inform future research on parent-child neural synchrony and its potential relevance for intervention strategies.

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25. Martin KE, Sábato F, Lynch J, Ferreira-Gonzalez A, Barrie ES. Performance evaluation of a PCR/Nanopore assay for carrier screening for cystic fibrosis, spinal muscular atrophy, and fragile X syndrome. J Mol Diagn;2026 (Mar 27)

Cystic Fibrosis, Spinal Muscular Atrophy, and Fragile X Syndrome are among the most common inherited genetic disorders making carrier screening essential for identifying at-risk couples. Traditional screening often involves multiple workflows and may miss rare variants. Comprehensive sequencing offers broader variant detection across diverse populations. We validated a PCR/Nanopore-based assay for comprehensive assessment of CFTR, SMN1/2, and FMR1. Samples included anonymized DNA from: whole blood (archival clinical samples, n = 53), cell lines (n = 19), and residual CAP proficiency testing material (n = 3). Using the AmplideX Nanopore Carrier Plus reagents, gene specific PCR was performed, followed by barcoding and sequencing on MinION flow cells. Data were analyzed using the AmplideX One Reporter software. Results for SMN1/2 and FMR1 showed 100% concordance with orthogonal methods (PCR/fragment analysis lab-developed tests) and 97% for CFTR. These results were reproducible between inter- and intra- run repeats. Here, we show that the PCR/Nanopore-based assay is accurate and reproducible for identifying pathogenic variants and poly-T size in CFTR; SMN1/2 copy number and SNP detection; and FMR1 CGG repeat sizes and AGG interruptions. The assay was also able to detect mosaicism as low as 10% for FMR1. This single workflow enables accurate, reproducible screening for multiple disorders, with the ability to identify more CFTR variants than traditional genotyping panels.

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26. Mullally SL, Wood AE, Edwards CC, Connolly SE, Constable H, Watson S, Rodgers J, Rose K, King N. Growing-up autistic: Sharing autistic children’s experiences and insights. Autism;2026 (Mar 26):13623613261427795.

There is a critical lack of exploration into the firsthand experiences of autistic children in the psychological literature. We sought to address this using baseline data from a wider mixed-methods study. A total of 136 autistic children (mean age = 10.35) completed an online questionnaire. Questions explored children’s understanding of autism, their feelings about being autistic in different contexts and challenges experienced. Quantitative data revealed limited autism knowledge and understanding for some. Challenges included talking about being autistic and self-advocating for needs, especially with non-family members. Children generally recognised both strengths and challenges of being autistic, although concerns about feeling/being different were widespread, and masking common. Strikingly, although most children felt positive about being autistic at home, significantly fewer felt this to be true when around peers or teachers. Using reflexive thematic analysis, four main themes were developed: (1) overwhelming experiences, (2) unsafe people, (3) sanctuary and (4) autistic identity. Overall, the children felt safest at home with family and/or with autistic/neurodivergent/understanding friends, but most unsafe at school with their teachers and neurotypical peers, where victimisation was rife. These findings offer valuable insights into the lives of autistic children, and demand we explore how places of education can be transformed into safe spaces for autistic children.Lay abstractAutistic children are rarely asked directly about their own experiences. In this study, 136 autistic children (ages 8-14) shared their views through an online questionnaire. They were asked what being autistic means to them, how they feel about it and what challenges they face in different environments. Many said they knew little about autism, and most did not have the words to talk about being autistic or feel safe doing so. Talking was especially difficult outside the family; while over 60% felt comfortable with family, only 16.5% felt this way with other people. Children also told us how overwhelming everyday life can be. Noisy, crowded or unpredictable environments often caused distress or shutdown. Many described how strong emotions, especially anxiety, build up in these moments. Some lost the ability to speak, and tasks like decision-making or emotional regulation became especially hard and exhausting. School was often named as a major source of overwhelm. Children showed deep insight into the people around them. They were highly attuned to whether others, for example, friends, family, teachers or professionals, felt safe or unsafe. Feeling unsafe often meant being misunderstood, ignored or bullied. School peers were commonly described as sources of victimisation, and teachers as making children feel unsafe by not listening or misunderstanding their needs. When children did not trust those around them, they masked their autistic traits to avoid judgement. This came at a cost: many described exhaustion, loneliness or feeling like they had to hide who they really are. By contrast, home and trusted relationships, especially with neurodivergent family or friends, offered sanctuary. Children felt freer to be themselves, ask for what they need and talk about autism. Emergent positive autistic identities were evident in some children. These findings show autistic children are thoughtful, perceptive and deeply affected by their environments while simultaneously shining a bright light on the challenges growing up autistic in a neurotypical world. Their voices offer vital insights and a call to make schools and services safer, more respectful spaces.

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27. Myllylä IL, Wiklund M, Haakana V, Vainio L, Saalasti S, Vainio M. Perceived prosodic typicality in Finnish preadolescents: Findings from speakers on the autism spectrum. Clin Linguist Phon;2026 (Mar 26):1-26.

Speech of persons on the autism spectrum is often described as prosodically distinctive, yet the perceptual basis and acoustic correlates of these judgements remain undefined. We investigated how prosodic typicality is perceived in low-pass filtered speech from Finnish-speaking preadolescents on the autism spectrum and matched controls, and how these perceptions relate to acoustic features. A total of 53 listeners rated 150 utterances for typicality and provided written comments. Mixed-effects modelling revealed no significant effect of diagnostic group on perceived typicality; instead, individual listener variability predominated. Acoustically, speakers on the autism spectrum exhibited greater pitch range, intensity range and frequent pausing. However, only select acoustic measures predicted typicality ratings, regardless of speaker group. Analysis of listener comments emphasised the salience of intonation and voice quality to typicality perceptions. These findings suggest that perceived prosodic typicality may not be a direct marker of neurodivergence but rather reflect the interaction of specific acoustic configurations and listener expectations.

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28. Nardi B, Parri F, Pini S, Giovannoni F, Pronestì C, Tarantino S, Massimetti G, Cremone IM, Dell’Osso L, Carpita B. Psychotic Spectrum Symptoms in Adults with Autism Spectrum Disorder and in Their First-Degree Relatives. Brain Sci;2026 (Mar 13);16(3)

Objectives: Autism Spectrum Disorder (ASD) and psychotic disorders have long been considered separate diagnostic entities, yet increasing evidence highlights shared neurodevelopmental mechanisms and symptom overlap. Psychotic-like experiences have been frequently reported in individuals with ASD, while subthreshold autistic traits (ATs) in first-degree relatives may also confer vulnerability to psychotic symptoms. This cross-sectional study aimed to compare psychotic spectrum manifestations among adults with ASD, their first-degree relatives (BAP), and controls (HCs), to explore associations between psychotic and ATs, and to evaluate whether psychotic symptoms predict diagnostic group membership. Methods: 22 adults with ASD, 22 BAP, and 24 HCs were evaluated with the Psychotic Spectrum-Self Report (PSY-SR) and the Adult Autism Subthreshold Spectrum (AdAS Spectrum). Results: ASD participants scored significantly higher on the PSY-SR. BAP individuals showed higher PSY-SR total scores compared to HCs, though less severe than in ASD. All PSY-SR domains positively correlated with all AdAS Spectrum domains, with few exceptions. Multinomial regressions showed that higher PSY-SR total scores significantly predicted ASD and BAP membership, and that the PSY-SR Paranoid domain score specifically predicted inclusion in both groups in relation to HCs. Conclusions: Psychotic spectrum symptoms are elevated not only in individuals with ASD but also among first-degree relatives, supporting a continuum linking autistic and psychotic vulnerabilities. The strong association between paranoid symptoms and ATs highlights a dimension of potential clinical relevance for early identification and assessment. These findings reinforce shared neurodevelopmental pathways between the autism and psychosis spectra and underscore the importance of dimensional approaches across diagnostic categories.

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29. Pu Q, Bennett N, Sekhar TC, Stanley MT, Berry-Kravis E. Electroretinography biomarkers indicate disrupted visual processing in Fragile X syndrome. J Neurodev Disord;2026 (Mar 27)

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30. Şahin B, Tekin E, Çobanoğlu Osmanlı C. Autistic Traits and Cognitive Flexibility in Adolescents With Epilepsy: A Comparative Study of Patients, Siblings, and Controls. J Autism Dev Disord;2026 (Mar 27)

BACKGROUND: Emerging evidence suggests shared neurobiological mechanisms between epilepsy and autism spectrum disorder (ASD), including alterations in GABAergic signaling, synaptic plasticity, and functional connectivity. However, the prevalence of autistic traits and cognitive flexibility impairments in adolescents with epilepsy without ASD remains underexplored. METHODS: This cross-sectional study compared 47 adolescents with epilepsy (12-18 years), 40 siblings, and 43 healthy controls. Participants were assessed using the Autism Spectrum Quotient-Adolescent Version (AQ-Adolescent) and the Cognitive Flexibility Scale (CFS). Clinical and developmental data were collected via standardized forms. Group differences were analyzed using ANOVA and Kruskal-Wallis tests, with post-hoc corrections. Correlations and logistic regression models examined associations between epileptic features, autistic traits, and cognitive flexibility. RESULTS: The epilepsy group exhibited significantly higher autistic traits (mean AQ = 31.2) compared to siblings (26.3) and controls (19.8; p < 0.001), with focal seizures linked to a 7.5-fold increased risk of clinically significant traits (AQ ≥ 30; p = 0.040). Cognitive flexibility was markedly lower in the epilepsy group (mean CFS = 48.2) versus siblings (56.5) and controls (58.2; p < 0.001). A strong negative correlation emerged between AQ and CFS scores (r = - 0.430, p < 0.001). Siblings of individuals with epilepsy had a 25-fold higher likelihood of elevated autistic traits (p = 0.012), supporting familial endophenotypes. CONCLUSIONS: Adolescents with epilepsy demonstrate elevated autistic traits and cognitive inflexibility, independent of ASD diagnosis. The sibling findings suggest shared genetic or environmental risk factors. Early screening for these traits may guide targeted interventions to improve psychosocial outcomes.

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31. Shirotani M, Shimizu S, Kitamura K, Mikawa Y, Haruna R, Kawai Y, Koide S, Mohri I, Matsuzaki H, Tsuchiya KJ, Tanaka Y, Katayama T. Safety and efficacy of a novel fecal microbiota transplantation method using hydrogen nanobubble water without antibiotics or bowel cleansing in children with autism spectrum disorder: an open-label, single-arm study demonstrating improvements in core and comorbidity symptoms. Front Pediatr;2026;14:1767346.

BACKGROUND: Autism spectrum disorder (ASD) is rising in prevalence, but effective treatments for its core symptoms remain limited. Fecal microbiota transplantation (FMT) has shown promise; however, conventional methods often require antibiotics and bowel cleansing, raising concerns regarding safety and sustainability. We developed a novel FMT method using hydrogen nanobubble water and investigated its efficacy and safety. METHODS: This prospective, single-arm, before-and-after comparative study enrolled 30 children aged 5-12 years with ASD, selected according to inclusion and exclusion criteria. SHIN-1, a Good Manufacturing Practice (GMP)-grade prepared fecal microbial solution from a healthy screened donor, was suspended in hydrogen nanobubble water and administered via enema. Primary outcome was the Social Responsiveness Scale-2 (SRS-2), with objectivity confirmed using Gazefinder as an eye-tracking system. Secondary outcomes included sensory profile [Short Sensory Profile (SSP)], gastrointestinal symptoms [Gastrointestinal Symptom Rating Scale [GSRS], Bristol Stool Form Scale [BSFS]] and Patient Health Questionnaire-4 items (PHQ-4). Statistical analyses employed paired t-tests or Wilcoxon signed-rank tests (α = 0.05). RESULTS: At 30 weeks, fecal microbiota reconstitution was observed, with increases in short-chain fatty acid-producing and typically taxa abundant in developing children. SRS-2 scores decreased 29% (p < 0.001), sustained at one year. The classification is as follows; 19 severe cases improved to mild and 6 to normal. Improvements were greater in children without gastrointestinal disorders (45% vs. 24%). Social Communication and Interaction (SCI), Restricted Interests and Repetitive Behavior (RRB), and subscales improved uniformly; sensory, gastrointestinal, and emotional symptoms improved by 30%-61%. No adverse events occurred. CONCLUSION: This novel hydrogen nanobubble water-based FMT method was safe and effective, reducing both core and peripheral symptoms of ASD and suggesting broad benefits via the gut microbiota-brain axis.Clinical Trial Registration: https://jrct.mhlw.go.jp/en-latest-detail/jRCTs031230041.

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32. Slavov V, Traikov L, Ciurinskiene S, Tafradjiiska-Hadjiolova R, Kadiyska T. Urinary Tryptophan-Kynurenine Pathway Profiling in Bulgarian Children with Autism Spectrum Disorder (ASD): Neopterin Co-Varies with Kynurenine and Quinolinic Acid. Metabolites;2026 (Mar 4);16(3)

Background/Objectives: Autism spectrum disorder (ASD) is biologically heterogeneous, and immune-linked variation may be associated with differences in tryptophan-kynurenine pathway (KP) metabolism. Here, we report a targeted urinary profile of KP metabolites, NAD (nicotinamide adenine dinucleotide), and neopterin in a Bulgarian pediatric ASD cohort to describe within-cohort patterns and associations. Methods: Second-morning, acid-stabilized spot urine was collected from 73 children with ASD in Bulgaria (3-13 years; 57 males; 16 females). No contemporaneous neurotypical control group was enrolled; therefore, laboratory-provided reference limits are reported only as contextual benchmarks and are not interpreted as ASD-specific abnormalities. Tryptophan (TRP), kynurenine (KYN), kynurenic acid (KYNA), 3-hydroxykynurenine (3-HK), quinolinic acid (QUIN), NAD, and neopterin were quantified and derived indices were computed (KYN/TRP × 1000; QUIN/KYNA). Non-parametric statistics, Benjamini-Hochberg false discovery rate (FDR) correction, and Spearman correlation analyses were applied. Results: Neopterin was strongly associated with QUIN and KYN in creatinine-normalized data (QUIN: ρ = 0.59, q36 = 2.64 × 10(-7); KYN: ρ = 0.54, q36 = 3.69 × 10(-6)); these associations persisted when reconstructed as absolute concentrations (e.g., QUIN_abs: ρ = 0.68, q36 = 2.69 × 10(-10)) and after partial Spearman correlation controlling for spot creatinine (partial ρ = 0.46, q = 2.52 × 10(-4)). One NAD value was

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33. Sun Y, Lyu L, Zhang X, Chen S, Liu Y, Qiao W, Zhu T, Wang S, Wang Z, Zhou D, Hai Y, Fan L. Environmental pollutants and autism spectrum disorder: Effects of plasticizers on core phenotypes and molecular targets. Neurotherapeutics;2026 (Mar 25);23(3):e00870.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder shaped by genetic and environmental factors. Phthalates, widely used as plasticizers in consumer products, have gained attention as potential environmental contributors to ASD; however, their pathogenic roles remain insufficiently defined. This study systematically investigated the molecular associations between three common phthalates, diethyl phthalate (DEP), dimethyl phthalate (DMP), and dioctyl phthalate (DOP), and ASD risk using integrated network toxicology and bioinformatics approaches. Intersection analysis of phthalate-associated targets and ASD-related genes revealed shared enrichment in lipid metabolism-related pathways. Protein-protein interaction network analysis identified 10 key targets: FAAH, CYP2C9, CYP24A1, ACHE, CYP11B1, TSPO, PTGS2, MIF, ADORA1, and ALDH3A1. Molecular docking and dynamics simulations indicated stable binding interactions between phthalates and the target. Mendelian randomization analysis further suggested that FAAH and ADORA1 serve as key pathogenic mediators linking phthalate exposure to ASD risk. In vivo experiments demonstrated that C57BL/6 mice exposed to individual or mixed phthalates exhibited ASD-like behaviors, including reduced social interaction, increased repetitive behaviors, and cognitive impairment, with the most pronounced effects observed in the DEP, DMP, and mixed exposure groups. qRT-PCR analysis of hippocampal tissue showed significant downregulation of Faah and upregulation of Adora1 in the DEP group. Collectively, these findings identify FAAH and ADORA1 as central molecular links between phthalate exposure and ASD-related phenotypes from a systems toxicology perspective, providing insight into environmental contributions to neurodevelopment and potential molecular targets for intervention.

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34. Turgut FS, Öztürk M, Akan Z, Yilmaz ED. A Comparison of Misophonia and Autistic Traits in Parents of Children with and without Autism Spectrum Disorder. Turk Psikiyatri Derg;2026;37:20-29.

OBJECTIVE: This study aims to compare misophonia levels and autistic traits between parents of children diagnosed with autism spectrum disorder (ASD) and parents of typically developing children. METHODS: Parents of children diagnosed with ASD who presented to the Child and Adolescent Psychiatry outpatient clinic (n=56) and parents of typically developing children (n=56) were included in the study. The Childhood Autism Rating Scale (CARS) was administered to the children with ASD. All participating parents completed the Autism Spectrum Quotient (AQ) and the Amsterdam Misophonia Scale– Revised (AMISOS-R). RESULTS: The rate of reporting throat sounds as a misophonic trigger was higher among parents of children with ASD (p=0.004). Weak but significant positive correlations were found across all participants between the AMISOS-R total score and the AQ total score, the attention switching subscale score, and the communication subscale score (r=0.275, p=0.003; r=0.266, p=0.005; r=0.35, p<0.001, respectively). Among parents of children with ASD, the AMISOS-R total score was positively correlated with items 3, 5, and 9 of the CARS (p<0.05). CONCLUSION: Our findings support potential associations between misophonia and ASD, and suggest that misophonia in parents may be related to certain characteristics in the child, such as sensory processing and emotional regulation.

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35. Van Steenbergen A, Kaur M, Rubanarayana K, Bolduc F. Clinical Trial Designs for Rare Disorders: A Scoping Review of the Effectiveness of Pharmacologic Interventions in Fragile X Syndrome. Neurol Genet;2026 (Apr);12(2):e200373.

PURPOSE OF REVIEW: Rare disorders (RDs) collectively affect a substantial proportion of the population, yet most lack clinically approved, mechanistically targeted therapies. Fragile X syndrome (FXS), the most common inherited cause of intellectual disability and a major genetic contributor to autism spectrum disorder, exemplifies this gap. Despite more than 3 decades of preclinical research and numerous pharmacologic clinical trials informed by disease mechanisms, no targeted therapy for FXS has received regulatory approval. This scoping review aims to evaluate the design characteristics, outcome measures, and reported effect sizes of pharmacologic clinical trials in FXS to highlight methodological limitations that may have hindered the accurate assessment of therapeutic efficacy in FXS and to inform future trials in RDs. RECENT FINDINGS: We conducted a scoping review of published interventional studies involving individuals with FXS, identified through searches of PubMed, Excerpta Medica Database (EMBASE), PsycINFO, and CENTRAL. Eligible studies were pharmacologic trials that reported sufficient statistical information to calculate effect sizes for recurrent behavioral outcome measures. 23 trials met inclusion criteria, comprising 14 placebo-controlled randomized controlled trials (RCTs) and 9 open-label studies, with a total of 1,469 participants. Recurrent outcome measures included the Aberrant Behavior Checklist (the FXS-specific ABC-Cfx), the Clinical Global Impressions-Improvement scale, the Vineland Adaptive Behavior Scales-Second Edition (VABS-II), and the Visual Analog Scale (VAS) for Anxiety (VAS Anxiety). The median absolute effect sizes were small among RCTs (|d| = 0.22) and moderate among open-label studies (|d| = 0.70). Across studies, substantial heterogeneity was observed in trial design, sample size, participant characteristics, and outcome measures, complicating cross-trial comparisons and interpretation of efficacy signals. SUMMARY: Collectively, existing pharmacologic trials in FXS have demonstrated limited and inconsistent treatment effects, with interpretation constrained by small sample sizes, heterogeneity in designs and outcome measures, and differences in participant characteristics. Greater standardization of trial design and outcome assessment, improved alignment between outcome measures and treatment mechanisms, and careful consideration of participant stratification are critical to improving signal detection in future trials. These insights have broader relevance for RD research, where methodological rigor is essential to translating promising mechanisms into effective therapies.

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36. Vermudez SAD, Freitas GA, Smith M, Gogliotti RG, Niswender CM. Profiling metabotropic glutamate receptor 7 expression in Rett syndrome: consequences for pharmacotherapy. Neuroscience;2026 (Mar 27);598:9-18.

Rett syndrome (RTT) is caused by mutations in the X-linked methyl-CpG binding protein 2 (MeCP2) transcription factor. RTT patients undergo a developmental regression between 6-18 months of age, resulting in the presentation of symptoms including repetitive behaviors, seizures, autistic-like features, and apneas. We have reported that levels of metabotropic glutamate receptor 7 (mGlu(7)) are significantly decreased in brain samples from RTT patients carrying truncation mutations in the MECP2 gene. Additionally, we have identified decreases in Mecp2(+/-) mice and demonstrated that administration of a positive allosteric modulator (PAM) with activity at mGlu(7) corrected deficits in cognitive, social, and respiratory domains. Here, we expanded our studies to a larger cohort of RTT samples covering a range of mutations and evaluated expression of the three widely expressed group III mGlu receptors (mGlu(4,7 and 8)). We found significant decreases in mGlu(7), but not mGlu(4) or mGlu(8), mRNA expression across this larger cohort; additionally, we identified a previously unknown correlation in the expression of mGlu(4) and mGlu(8) in human brain samples. Stratification of RTT patients into those with classically severe versus mild MECP2 pathogenic mutations revealed statistically significant decreases in mGlu(7) expression only in patients with mutations associated with severe symptoms. To establish whether target disruption is required for efficacy, we administered the PAM VU0422288 to mice modeling the mild R306C mutation (Mecp2(R306C/+)) and found a significant reduction in apneas. These results provide the first evidence of potentially broad utility for mGlu(7) PAMs in reducing apneas across the RTT spectrum.

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37. White JM, Snape S. Effect of Autism Portrayal in Television and Film Media on Viewers With Autism. J Autism Dev Disord;2026 (Mar 27)

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38. Witt EA, Stanton-Turcotte D, Garay P, Ge J, Iulianella A. Characterization of Social and Repetitive Behaviors of Mllt11/Af1q/TcF7c Conditional Knockout Mice. Eur J Neurosci;2026 (Apr);63(7):e70474.

Mllt11 (myeloid/lymphoid or mixed-lineage leukemia translocated to chromosome 11; also known as Af1q/TcF7c) has been identified as a novel regulator of neural development, playing a role in the migration and outgrowth of cortical projection neurons. We previously reported that the conditional inactivation of the Mllt11 gene in the mouse superficial cortex resulted in reduced connectivity of the corpus callosum and white matter fiber tracts, resulting in reduced cortical thickness. However, the behavioral consequences of Mllt11 loss are unknown. Callosal abnormalities are thought to be present in 3%-5% of all neurodevelopmental disorders and reduced corpus callosum volume correlates with core symptoms of autism spectrum disorder (ASD) in humans. Cortical thickness dysregulation is likewise shared among various neurodevelopmental disorders including ASD. We therefore investigated the behavioral consequences of conditional knockout of Mllt11 using transgenic Cux2(iresCre/+) mice. Utilizing tasks designed to reflect core ASD symptoms, we examined the behaviors of both male and female conditional knockout animals. These tests included olfaction habituation/dishabituation, three-chambered social approach, marble burying, and nestlet shredding. We found sex-dependent disruptions in social preference and nestlet shredding in animals lacking Mllt11, with the female mice presenting with more disruptions than the males. Understanding the behavioral phenotype associated with genes of interest, specifically in the context of sex differences, is crucial to individualized treatment for neurodevelopmental disorders.

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39. Xu P, Shen Z, Wang Q, Hu Y, Hu Y. Digital Health Technologies Empower Family-Mediated Interventions for Autistic Children: A Scoping Review. J Autism Dev Disord;2026 (Mar 27)

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40. Yoon JH, Jung DJ, Kim M, Kim YN, Shim M, Lee SY, Shin C, Im S, Maeng S, Shin J. Gami-Guibitang Attenuates Anxiety-like Behaviors and Modulates Hippocampal Synaptic Signaling in a Valproic Acid-Induced Mouse Model of Autism. Brain Sci;2026 (Feb 25);16(3)

BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by social deficits, repetitive behaviors, and heightened anxiety. Despite extensive research, effective interventions targeting core symptoms remain limited. Gami-Guibitang (GBT), a traditional herbal formula, has been clinically prescribed for anxiety-related symptoms and cognitive complaints, yet its effects on ASD-associated behavioral and molecular abnormalities have not been fully elucidated. OBJECTIVE: This study aimed to evaluate the anxiolytic and neuroregulatory effects of GBT in a valproic acid (VPA)-induced ASD mouse model, focusing on behavioral outcomes and hippocampal synaptic protein expression. METHODS: Pregnant C57BL/6N mice received a single intraperitoneal injection of VPA (500 mg/kg) at embryonic day 12.5. Male offspring were administered GBT (150 mg/kg, p.o.) twice daily for 4 weeks from postnatal day 21 (PND 21). These mice were behaviorally evaluated by the open-field test, elevated plus maze, marble-burying test, Y-maze, three-chamber social interaction test, and Morris water maze. Western blot analysis was conducted to examine hippocampal expression of phosphorylated and total CREB and GluR1, PI3K/Akt signaling components, as well as GABRA1 and GABRB1. RESULTS: VPA-exposed offspring exhibited increased anxiety-like behaviors, altered repetitive behaviors, dysregulated exploratory activity, and impaired spatial learning, and reduced spontaneous alternation performance in the Y-maze. GBT reduced anxiety-like behaviors in the elevated plus maze and marble burying tests, partially improved spatial learning acquisition in the Morris water maze, and normalized excessive locomotor activity, without significantly affecting short-term working memory performance. At the molecular level, GBT significantly attenuated VPA-induced hyperphosphorylation of CREB, GluR1, PI3K, and Akt, indicating suppression of aberrant synaptic signaling rather than global enhancement. In addition, GBT increased GABRA1 expression toward control levels and enhanced GABRB1 expression beyond baseline, suggesting selective modulation of GABAergic receptor subunit composition rather than simple normalization. CONCLUSIONS: These findings provide preclinical evidence that GBT alleviates anxiety-like behavior and modulates hippocampal synaptic signaling disrupted by prenatal VPA exposure. By attenuating aberrant excitatory signaling and selectively regulating GABAergic receptor balance, GBT may represent a multi-target herbal candidate for modulating ASD-associated emotional dysregulation and domain-specific cognitive dysfunction, rather than acting as a broad cognitive enhancer.

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41. Zeng L, Ji Z, Gong X, Wang H, Jin Y, Guo J, Xue J, Su X, Liu Q, Han G, Chen S, Lin P, Huang Z, He A, Zhao L, Li X, Liu J. Resilience and coping styles mediate the associations of autistic and ADHD traits with internet addiction in general adolescents. Sci Rep;2026 (Mar 26)

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42. Zhong X, Jin Q, Zhang S, Liu Z. Risk factors and a prediction model for ASD symptoms in Chinese preschool children. Front Psychiatry;2026;17:1749880.

BACKGROUND: The global prevalence of autism spectrum disorder (ASD) is rising, creating an urgent need for practical early screening tools, especially in community and resource-limited settings. This study aimed to identify key risk factors and develop an individualized prediction model for ASD symptoms in Chinese preschool children. METHODS: A cross-sectional study was conducted in 2024, involving 13,641 children aged 3-6 years from 32 kindergartens in Guizhou Province, China. ASD symptoms were screened using the Autism Behavior Checklist. Predictor variables were selected via LASSO regression with 10-fold cross-validation. A multivariable logistic regression model was constructed and presented as a nomogram. Model discrimination was evaluated by the area under the receiver operating characteristic curve (AUC) with bootstrapped 95% confidence intervals (CI). Calibration was assessed using calibration curves and the Hosmer-Lemeshow test, and clinical utility was measured by decision curve analysis. RESULTS: Among the participants, 324 (2.38%) screened positive for ASD symptoms. Multivariable analysis identified several independent risk factors: lower degree of fondness for the child (OR = 1.53, 95% CI: 1.29-1.81), inconsistency in parenting beliefs (OR = 1.17, 95% CI: 1.06-1.30), poorer sleep quality (OR = 1.55, 95% CI: 1.33-1.80), and a family history of mental disorders (OR = 2.80, 95% CI: 1.81-4.32). Higher parental education (OR = 0.86, 95% CI: 0.78-0.94) and balanced caregiving time (OR = 0.82, 95% CI: 0.76-0.88) were protective factors. The nomogram demonstrated moderate discrimination (AUC = 0.757, 95% CI: 0.731-0.782), was well-calibrated, and provided a net clinical benefit for threshold probabilities between 0.1% and 19.6%. CONCLUSION: We successfully developed and validated a practical nomogram that integrates multiple familial and child-level factors for predicting ASD symptoms. This tool exhibits good performance and clinical applicability, offering a valuable approach for early community-based screening of preschool children.

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