Pubmed (TSA) du 21/01/26
1. Aldakhil AF. Sensory-integrated habit reversal intervention for hair pulling and classroom engagement in children with autism: A multiple-baseline pilot study. Res Dev Disabil. 2026; 169: 105229.
BACKGROUND: Hair pulling is a body-focused repetitive behavior frequently observed in individuals with autism and is increasingly conceptualized as a developmentally mediated self-regulatory behavior that may interfere with adaptive participation across everyday contexts. Although habit reversal training (HRT) has demonstrated efficacy for reducing repetitive behaviors, evidence supporting its implementation in naturalistic settings, particularly when integrated with sensory-regulation supports remains limited. METHODS: This study examined the effects of a sensory-integrated habit reversal (SI-HR) intervention on hair pulling and functional engagement in autistic children within a naturalistic educational context. A multiple-baseline across participants single-case experimental design was employed with eight autistic students (four boys, four girls) aged 8-14 years. Following staggered baseline phases, trained school personnel implemented a manualized intervention combining core HRT components (awareness training, competing responses, and stimulus control) with individualized sensory-regulation strategies embedded within daily routines. Hair pulling was measured using partial-interval recording, and engagement was assessed using momentary time sampling as an indicator of attentional regulation and adaptive participation. Treatment fidelity, interobserver agreement, and social validity were evaluated. RESULTS: Visual analysis and nonoverlap indices demonstrated consistent and immediate reductions in hair pulling across participants, with large effects (NAP range = 0.92-1.00) and maintenance of gains during a maintenance/probe phase. Functional engagement increased for most participants, although the magnitude of change varied. Teachers and caregivers rated the intervention as feasible and acceptable under typical educational conditions. CONCLUSIONS AND RECOMMENDATIONS: Findings provide preliminary support for a sensory-integrated behavioral approach to reducing body-focused repetitive behavior in autistic children, with associated improvements in functional engagement. These findings should be interpreted cautiously given the multicomponent nature of the intervention and the small sample size, underscoring the need for replication, component analyses, and extended follow-up across developmental and rehabilitative contexts.
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2. Aly M, Galal M, Alzahrani T, Alsowayan M, Fakehy M, Mohamed S. A Structured Sensory-Motor Exercise Program Improves Balance and Parent-Reported Sensory Reactivity in Autistic Children. OTJR (Thorofare N J). 2026: 15394492251409685.
Children with autism spectrum disorder (ASD) often present co-occurring sensory reactivity differences and balance deficits. This randomized controlled trial examined if a 16-week sensory-motor exercise program could improve balance and sensory reactivity in autistic children. Twenty children (6-12 years) were randomized to the intervention group (n = 10) or a conventional therapy control (n = 10), and sixteen children (eight per group) completed the study. The primary outcome was balance (Berg Balance Scale, BBS); the secondary, exploratory outcome was parent-reported sensory reactivity (Short Sensory Profile, SSP). The intervention group showed significantly greater improvements in balance (p < .001) and parent-reported reductions in atypical sensory reactivity (p < .001). These results support incorporating structured sensory-motor activities into therapeutic programs for ASD to enhance children's functional balance, reduce atypical sensory reactivity, and improve their participation in daily life activities, which are critical components of occupational performance. How a Program of Sensory and Motor Activities Helped Autistic Children With Balance and Sensory ChallengesMany autistic children experience challenges with balance and with how they react to senses like touch or sound. We wanted to see if a specific program of structured activities could help. In our study, we tested a 16-week program of sensory and motor activities with a group of autistic children. We found that the children who participated in the program showed significant improvements in their balance compared to children who received their usual therapy. In addition, parents of the children in the program reported that their children had fewer difficulties with sensory reactivity in their daily lives. This suggests that using structured sensory-motor activities can be a valuable way to help autistic children improve the foundational skill of balance. eng.
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3. Anderson G. Autism Pathoetiology and Pathophysiology: Roles of STAT3 and NF-κB Dimer Interactions in Regulating the Mitochondrial Melatonergic Pathway in Placental, CNS, and Systemic Cells. Front Biosci (Landmark Ed). 2026; 31(1): 46455.
People with autism spectrum disorders (ASD) show a relative suppression of the melatonergic pathway across CNS and systemic cells. The differential regulation of the mitochondrial melatonergic pathway may therefore be an important core aspect of ASD pathophysiology in all its manifestations. Recent data across diverse human cells show that the melatonergic pathway is powerfully regulated by interactions between signal transducer and activator of transcription 3 (STAT3) and nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB), with the composition of the NF-κB dimer determining whether the melatonergic pathway is upregulated or downregulated. Diverse aspects of ASD pathoetiology and pathophysiology, including the aryl hydrocarbon receptor (AhR), microRNAs, suboptimal mitochondrial function, pro-inflammatory cytokines, glucocorticoid receptor, vagal nerve, and oxytocin, are all intimately linked to pineal and/or local melatonin regulation, indicating the relevance of the mitochondrial melatonergic pathway regulation in the pathoetiology and pathophysiology of ASD. This article reviews and integrates diverse aspects of ASD pathoetiology and pathophysiology, with implications for future research and treatment.
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4. Arıcıoğlu F, Korkmaz E, Kabacaoğlu G, Bahtiyar B, Sümer E, Yılmaz B. Investigating the Effects of Vortioxetine in an Experimental Model of Autism Spectrum Disorder: Role of NOD-like Receptor Protein-3 Inflammasome Pathway. Psychiatry Clin Psychopharmacol. 2025.
OBJECTIVE: The aim of the present study was to investigate NOD-like receptor-3 (NLRP-3)-mediated inflammasome activation in macrophage and microglia cells, which is one of the early step mechanisms in the formation of proinflammatory cytokines, in an autism model and also investigate the possible effect of vortioxetine (VTX), which has a multimodal mechanism of action, in the treatment of autism in a valproic acid (VPA)-induced experimental rat model of autism spectrum disorder (ASD). MATERIALS AND METHODS: Male Sprague-Dawley rats were divided into 3 groups: Control (n = 12), ASD (n = 16), and ASD + VTX (n = 16). The VTX (5 mg/kg/day) or saline was administered to the male offspring born from pregnant rats administered VPA (400 mg/kg) or saline, between postnatal 30-45 days. Open field, body splash, and social interaction tests were performed in groups on postnatal days 46-52. The NLRP3 inflammasome components such as NLRP3, caspase-1, and ASC levels were investigated in the prefrontal cortex by real-time polymerase chain reaction. Data were analyzed using 1- or 2-way analysis of variance (ANOVA) and Tukey’s multiple comparison tests, and differences of P < .05 were considered statistically significant. RESULTS: The ASD model showed increases in locomotor activity and repetitive behaviors like grooming despite decreases in sociability and social interactions. These findings as well as observational malformations supported the formation of an autism model. It was found that sniffing and following behaviors as social interaction markers were significantly increased and avoidance behavior was reduced with VTX treatment. In molecular analyses, NLRP3 inflammasome components, NLRP3, ASC, and caspase-1 were increased in the ASD model. It was observed that VTX treatment statistically significantly reduced the increased NLRP3, caspase-1, and ASC gene expressions in ASD. CONCLUSION: In light of the findings of the study, it was thought that the NLRP-3 pathway may have an important role in the neurobiology of ASD. VTX, as a multimodal antidepressant, has some beneficial effects for the improvement of the behavioral and molecular parameters of ASD.
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5. Bai WE, Lee EAL, Afsharnejad B, Chih H, Parsons R, Zou X, Deng H, Zhu H, Bölte S, Girdler S. Assessing the psychometric properties of the Autism Diagnostic Observation Schedule – Generic (ADOS-G) in a clinical setting in the Chinese mainland. Mol Autism. 2026; 17(1): 6.
BACKGROUND: The awareness of autism spectrum condition (ASC) and the estimated prevalence rate are lower in the context of the Chinese mainland, compared to western countries. The Chinese adaptation of the Autism Diagnostic Observation Schedule – Generic (ADOS-G) has been widely used in the diagnostic process of ASC for many years despite its psychometric properties not having been established in a large clinical sample. Thus, the purpose of this study was to evaluate the metrics of the ADOS-G in a well characterized sample from a renowned child developmental-behavioural centre that provides clinical services to a nationwide reach of people in China. METHODS: The present study analysed a large retrospective record review of individuals who visited the centre’s outpatient clinic between January of 2018 and August of 2021. Participants in this study were divided into ASC (n = 2330) and non-ASC (n = 473) groups according to their clinical diagnosis. All participants completed the ADOS-G Chinese version, with 1333 administered Module 1, 867 Module 2 and 603 Module 3. Psychometric properties of the ADOS-G Chinese version were evaluated in terms of item characteristics, internal consistency, concurrent validity, and convergent validity. RESULTS: The ADOS-G Chinese version demonstrated different levels of internal consistency reliability for different domains, with low Cronbach alpha values for Communication domains (0.40-0.60), but higher for the Communication and Social Interaction combined domains (above 0.75). Evaluation of validity yielded good sensitivity (> 90%) and positive predictive values (> 0.85), but low specificity (0.15-0.60) and negative predictive values (around 0.60). Agreement between ADOS-G diagnosis and clinician’s diagnosis was fair (Cohen’s kappa ranging from 0.20 to 0.35 for different modules), but low between the ADOS-G and ADI-R (< 0.15). Almost all items of the ADOS-G differentiated between ASC and non-ASC. LIMITATIONS: Sample sizes were unevenly distributed between ADOS-G Modules 1 to 3, with Module 1 having the largest sample and none for Module 4. Retest reliability could not be assessed with the retrospective chart data. CONCLUSIONS: This study is the first to examine the ADOS-G Chinese adapted version in a large clinical sample in the Chinese mainland. The ADOS-G contributes valuable information to support the clinical diagnosis of ASC, though additional research into its psychometric properties and cultural adaptation in the Chinese mainland context may be necessary. This study highlights the importance of cultural validation and the considerations required when interpreting ADOS results in non-Western settings. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13229-026-00702-7.
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6. Bu W, Chen Z, Liu B, Jia X. Gut microbiota and its metabolism in autism spectrum disorder: from pathogenesis to therapy. Front Cell Infect Microbiol. 2025; 15: 1687691.
Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by social communication deficits and repetitive behaviors. Studies show that nearly half of ASD patients have gastrointestinal symptoms such as abdominal pain and diarrhea, indicating the important role of gut microbiota in its pathogenesis. This review finds that ASD patients exhibit reduced gut microbiota diversity and imbalanced Bacteroidetes/Firmicutes ratio, with abnormal microbial structure affecting neurobehavior through the gut-brain axis. Abnormalities in gut microbiota metabolites (short-chain fatty acids, phenolic compounds, bile acids, amino acids, etc.) are key mediators, which can exacerbate symptoms by affecting BBB permeability, neuroinflammation, and neurotransmitter balance. The gut-brain axis regulates ASD through mechanisms including the HPA axis, vagus nerve, immune pathways, and barrier functions. Gut microbiota-targeted interventions (exercise, dietary intervention, fecal microbiota transplantation, prebiotics/probiotics, etc.) can alleviate gastrointestinal and behavioral symptoms of ASD by regulating microbiota balance and improving metabolic environment. However, there are still issues such as unclear metabolite regulation mechanisms and significant individual differences in interventions. Future studies should combine multi-omics and artificial intelligence to identify core targets, develop personalized plans, and promote clinical translation.
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7. Chan NY, John JR, Mathew NE, Masi A, Ong LK, Eapen V, Lin PI, Walker AK. The relationship between chronic stress, co-occurring conditions, sleep, and autistic features including severity using hair cortisol concentration. Psychoneuroendocrinology. 2026; 186: 107769.
BACKGROUND AND OBJECTIVE: Autism is highly heterogeneous and reliance on behavioural assessments alone may not provide sufficient insight into the unique characteristics of autistic individuals. Biomarkers, like hair cortisol concentration (HCC), may help unravel mechanisms underlying clinical variation in autism and support diagnostic measures, especially in young children who may not be able to effectively communicate their distress. We examined the relationship between HCC and autistic traits along with commonly co-occurring conditions including sleep disturbances in autistic children compared to non-autistic children. METHODS: We conducted a cross-sectional analysis utilising data from the Australian Autism Biobank comprising clinical and biological samples from Australian children aged 2-17 years. Primary analysis included multivariable linear regression analyses to identify significant associations with HCC after controlling for key sociodemographic covariates, including child’s intelligence quotient (IQ). RESULTS: The study included 307 autistic children, 158 non-autistic siblings, and 124 unrelated non-autistic children. The commonly reported co-occurring conditions were global developmental delay (8.5 %), intellectual disability (6.1 %), and otitis media (6.1 %). Higher severity of autistic traits and in particular social affect issues, co-occurring attention-deficit/hyperactivity disorder (ADHD), internalising, and maladaptive behaviours were significantly associated with lower normalised HCC. Higher sleep anxiety and IQ were associated with higher HCC. Regarding sociodemographic factors, older age and higher family income were associated with lower HCC. CONCLUSION: The findings indicate the clinical value of HCC as a viable biomarker to identify subgroups based on co-occurring medical and mental health conditions. Further research to elucidate the link to individual and family/environmental factors as potential sources of stress is needed to offer targeted supports.
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8. Di Cara M, De Domenico C, Piccolo A, Alito A, Costa L, Quartarone A, Cucinotta F. The Diagnostic Potential of Eye Tracking to Detect Autism Spectrum Disorder in Children: A Systematic Review. Med Sci (Basel). 2026; 14(1).
Background: Autism spectrum disorder (ASD) is associated with distinct visual attention patterns that provide insight into underlying social-cognitive mechanisms. Methods: This systematic review (PROSPERO: CRD42023429316), conducted per PRISMA guidelines, synthesizes evidence from 14 peer-reviewed studies using eye-tracking to compare oculomotor strategies in autistic children and typically developing (TD) controls. A comprehensive literature search was conducted in PubMed, Web of Science, and Science Direct up to March 2025. Study inclusion criteria focused on ASD versus TD group comparisons in individuals under 18 years, with key metrics, fixation duration and count, spatial distribution, saccadic parameters systematically extracted. Risk of bias was assessed using the QUADAS-2 tool, revealing high heterogeneity in both index tests and patient selection. Results: The results indicate that autistic children exhibit reduced fixation on socially salient stimuli, atypical saccadic behavior, and more variable spatial exploration compared to controls. Conclusions: These oculomotor differences suggest altered mechanisms of social attention and information processing in ASD. Findings suggest that eye-tracking can contribute valuable information about heterogeneous gaze profiles in ASD, providing preliminary insight that may inform future studies to develop more sensitive diagnostic tools. This review highlights visual attention patterns as promising indicators of neurocognitive functioning in ASD.
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9. Du M, Shi P, Liu Z, Xu Y, Liu X, Liu W, Liu S, Ming D. Naturalistic facial dynamics enable quantitative clinical assessment of atypical expression phenotypes in children with autism spectrum disorder. NPJ Digit Med. 2026.
Existing facial-expression studies in children with autism spectrum disorder (ASD) rely mainly on discrete, task-driven measures that overlook the sustained emotional fluctuations and ambiguous expressions in naturalistic interactions. This study quantified atypical facial expression patterns in ASD during spontaneous, unscripted interactions. We analyzed 184 naturalistic video sessions from 99 children with ASD and 85 typically developing (TD) peers and extracted three features capturing spontaneous dynamics: emotion variation (temporal stability of emotional states), expression intensity (magnitude of facial muscle activation), and facial coordination (synchrony across facial muscles). These features integrated holistic and processual representations across coarse- and fine-grained levels, enabling detailed quantification of facial patterns. Compared with TD peers, the ASD group exhibited increased prominence of anger, altered emotion transition probabilities, heightened activation in non-core facial muscles, and atypical facial coordination (p < 0.05). These findings reveal subtle facial dynamics inaccessible to traditional approaches and provide a quantitative explanation for the hard-to-describe atypical expressions. Using the fused feature set, ASD classification reached 92.4% accuracy and 0.977 AUC. Regression analyses further predicted symptom severity with mean absolute errors of 13.94 on the ABC scale and 3.84 on the CABS scale. These quantitative and interpretable markers show promise for large-scale ASD screening in naturalistic settings.
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10. Durrani E, Moser C, Mueller SB, Libster N, Vogus TJ, DaWalt LS, Taylor JL. Associations Between Features of Employment and Job Satisfaction Among Autistic Adults. J Autism Dev Disord. 2026.
PURPOSE: Many adults on the autism spectrum face challenges securing and maintaining employment. While research has focused on ways to improve employment rates, less is known about the employment experiences of autistic adults who obtain jobs and the factors that contribute to their job satisfaction. The present study had two aims: (1) to describe the levels of job satisfaction across several facets in a sample of working autistic adults and compare these scores to normative data from the general population; and (2) to examine the associations of employment features (full-time versus part-time work, job supports, and perceptions of workplace climate) with facets of job satisfaction among autistic adults. METHODS: Participants included 108 adults with a diagnosis of autism who were working in community-based employment. Adults completed an interview focused on their employment experiences and an online survey assessing perceptions of workplace climate and job satisfaction. RESULTS: Participants reported similar levels of job satisfaction across all facets when compared to normative data of similarly aged non-autistic peers. More positive perceptions of workplace climate were associated with all facets of job satisfaction. CONCLUSION: These findings emphasize the importance of a workplace climate for autistic adults that values diversity, makes employees feel safe, and fosters positive relationships between supervisors and supervisees.
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11. Gokhale C, Kar A. A Qualitative Study of Medical and Rehabilitation needs of Primary Caregivers of Children with Developmental Disabilities in India: Implications for Health Service Interventions. Indian J Community Med. 2025; 50(Suppl 3): S522-s6.
Children with developmental disabilities require medical care, rehabilitation therapies, and social welfare support. While district early intervention centers offer some services, the private sector remains unorganized. The study aimed to qualitatively assess caregivers’ needs, identify gaps in referral linkages, and suggest health systems interventions to assure smooth transition from medical to rehabilitation services. In-depth interviews of 28 caregivers of children with cerebral palsy, intellectual disability and autism spectrum disorder were conducted. Interviews were analyzed from the perspective of health systems interventions, using content analysis. Study revealed three themes. The first theme related to inadequate information at diagnosis including insufficient information about complications among high-risk babies, and inadequate guidance when delayed milestones were observed. The second theme related to interaction with the doctor, highlighting perceived lack of knowledge among doctors about developmental disabilities, ineffective communication, and limited knowledge about rehabilitation services. The third theme was regarding challenges with rehabilitation such as caregivers’ inadequate knowledge about therapies benefits and need for coordination between doctors and therapists. Findings indicate the need for strengthening knowledge about early childhood development, the benefits of early intervention, and strengthening referral pathways to assure coordination between available services and continuity of care.
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12. Goldman ID, Chabner BA. Cerebral Folate Deficiency, Autism, and the Role of Leucovorin. N Engl J Med. 2026.
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13. Hamid S, Ul Hoque T, Bahaj B, Mohiuddin R. Effectiveness of Digital Health Technologies in the Management of Autism Spectrum Disorder in Children and Adolescents: A Systematic Review. Cureus. 2026; 18(1): e102030.
Limited access to specialist services, driven by workforce shortages and increasing demand, has constrained timely face-to-face management of autism spectrum disorder (ASD). Children and adolescents with ASD frequently engage with digital technologies, prompting growing interest in digital health interventions as potential adjuncts to traditional care; however, their effectiveness remains uncertain. This systematic review aimed to evaluate the evidence from randomised controlled trials assessing digital health interventions for the management of ASD-related symptoms in children and adolescents. Embase, MEDLINE, and Web of Science were searched in March 2023, and findings were synthesised narratively. Twelve randomised controlled trials comprising 622 participants met inclusion criteria, evaluating heterogeneous interventions including tablet- and computer-based applications, web-delivered video-modelling programmes, mobile health interventions, and wearable augmented-reality systems. While results for primary outcomes were mixed, with several trials reporting null findings for core social communication deficits, consistent positive effects were observed for functional and additional outcomes. Specifically, interventions grounded in established behavioural principles demonstrated benefits for receptive language, emotional comprehension, and adolescent vocational skills (e.g. employment interview performance and conflict negotiation). However, few studies directly compared digital interventions with active face-to-face therapies, and the overall risk of bias was mixed largely due to concerns regarding the randomisation process and high risk of bias in outcome measurement stemming from the use of unblinded, subjective parent-reported measures. Digital health interventions, therefore, show promise as adjunctive tools for supporting ASD management in children and adolescents, but larger, longer-term randomised trials across more diverse populations are required to establish their effectiveness, durability, and role alongside conventional ASD services.
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14. Kuruppath P. Olfactory Deficits in Fragile X Syndrome. Eur J Neurosci. 2026; 63(2): e70357.
Fragile X syndrome (FXS) is the most common inherited form of intellectual disability and a major genetic cause of autism spectrum disorders (ASDs). It results from the loss of fragile X mental retardation protein (FMRP), an mRNA-binding protein critical for synaptic development and plasticity. Although sensory processing abnormalities are well recognized in FXS, the olfactory system remains relatively underexplored in both human and animal studies. Evidence from rodent and drosophila models reveals that FMRP loss profoundly alters olfactory circuitry and function. In Fmr1 knockout mice, aberrant mitral cell dendritic morphology and increased granule cell spine density disrupt excitation/inhibition (E/I) balance, leading to circuit hyperexcitability and impaired odor discrimination. Similarly, dfmr1-deficient flies show reduced GABAergic inhibition, broadened odor tuning, and altered odor-guided behaviors, reflecting conserved mechanisms of synaptic dysregulation. These findings parallel disruptions seen in other sensory systems, underscoring the olfactory bulb as a microcircuit model for studying FXS-related neural dysfunction. Human evidence remains limited, but studies in ASD suggest that structural alterations in the olfactory bulb and prefrontal cortex may contribute to sensory deficits in FXS. Integrating findings across species, this review highlights the olfactory system as a translational framework for linking molecular dysfunction to circuit-level and behavioral abnormalities. By focusing on this well-characterized sensory network, it emphasizes how early synaptic and structural disruptions in FXS give rise to E/I imbalance and sensory processing impairments, providing insights into broader neurodevelopmental mechanisms and potential therapeutic targets.
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15. Li Y, Qi Y, Yang Y, Zhang R. Effects of exercise intervention on inhibitory control in children and adolescents with autism spectrum disorders: A systematic review and meta-analysis. Medicine (Baltimore). 2026; 105(3): e47186.
BACKGROUND: Exercise interventions have a positive impact on executive functioning in children and adolescents with autism spectrum disorders (ASD), but the efficacy of inhibitory control (IC) following exercise interventions is unclear. The aim was to investigate the effects of an exercise intervention on IC function in children and adolescents with ASD and to explore the underlying mechanisms. METHODS: We searched 8 English (Web of Science, PubMed, Scopus, Embase, MEDLINE, SPORTDiscus, Cochrane Library, and APA PsycINFO) and 2 Chinese databases (China Biomedical and CNKI) up to November 2024. Two authors independently extracted data, assessed bias with Cochrane Risk of Bias 2 tool, and graded evidence with Grading of Recommendations, Assessment, Development and Evaluation. Eighteen studies were included, of which 8 entered the meta-analysis. RESULTS: Overall, the combined effect of exercise intervention on IC in children and adolescents with ASD was statistically significant in the intervention group compared to the control group (standardized mean difference = -0.49, 95% confidence interval [-0.72 to -0.26], Z = 4.16, P < .0001), with no heterogeneity (I2 = 0%), and no publication bias was found by funnel plots and Egger test, sensitivity analysis revealed no publication bias, and the findings were stable. Subgroup analysis revealed that, in terms of movement patterns, martial arts interventions appeared to be more effective in enhancing IC, while ball sports and combined sports did not show significant effects. Interventions with shorter session durations (≤45 minutes), more frequent weekly sessions (>2), and shorter intervention cycles (≤4 weeks) tended to demonstrate slightly better outcomes, although not all subgroup differences reached statistical significance. CONCLUSIONS: Exercise interventions have a significant impact on IC in children and adolescents with ASD. Martial arts interventions may be more beneficial for improving IC in children and adolescents with ASD. Similarly, shorter sessions, higher weekly frequency, and shorter overall intervention cycles tended to yield somewhat better effects. However, given the variation in the number and quality of included studies, these findings must be further validated by more scientifically objective randomized controlled trials.
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16. Liñares-de-Marcos J, Palomero-Sierra B, Sánchez-Gómez V, Fernández-Álvarez CJ, Canal-Bedia R. An integrative approach between neurodiversity perspectives and quality of life models for autistic people across the spectrum of support needs. Front Psychiatry. 2025; 16: 1756323.
INTRODUCTION: Autism is increasingly understood not through deficit-based frameworks but through approaches that emphasize rights, inclusion, and well-being for autistic people across the spectrum of support needs, including non-speaking individuals, those with intellectual disability, and those experiencing mental health challenges. Two perspectives have been central to this shift: Quality of Life (QoL) models, rooted in applied disability research, and the neurodiversity paradigm, arising from autistic self-advocacy and social justice movements. AIM: This mini review examines the convergences and tensions between these perspectives, generating a set of integrative principles to guide support providers, researchers, and policymakers. Evidence is synthesized across three thematic perspectives: socio-political and paradigmatic debates, particularly language, identity, and representation; applied and clinical practice, including the aims, role, and risks of supports and interventions; and research, with attention to participatory approaches, lived-experience priorities, and the representation of autistic people with extensive support needs. DISCUSSION: Six principles emerge: (i) well-being depends on both self-acceptance and the quality of supports; (ii) language should balance contextual function with individual preference; (iii) identity has transformative value, requiring diagnostic practices that are inclusive, participatory, and non-deficit oriented; (iv) supports are essential mechanisms for participation, not threats to identity; (v) interventions should promote autonomy, belonging, and growth without enforcing normalization; and (vi) research must ensure autistic participation across all stages, with accessible processes and priorities aligned with autistic preferences. Together, these principles offer a framework for integrating QoL and neurodiversity approaches in ways that advance rights, inclusion, and well-being.
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17. Méndez-Ramírez LF, Meñaca-Puentes MA, Salamanca-Duque LM, Valencia-Buitrago M, Ruiz-Pulecio AF, Ruiz-Villa CA, Trejos-Gallego DM, Carmona-Hernández JC, Campuzano-Castro SB, Orjuela-Rodríguez M, Martínez-Díaz V, Triviño-Valencia J, Naranjo-Galvis CA. CXCL1, RANTES, IFN-γ, and TMAO as Differential Biomarkers Associated with Cognitive Change After an Anti-Inflammatory Diet in Children with ASD and Neurotypical Peers. Med Sci (Basel). 2025; 14(1).
Background/Objective: Neuroimmune and metabolic dysregulation have been increasingly implicated in the cognitive heterogeneity of autism spectrum disorder (ASD). However, it remains unclear whether anti-inflammatory diets engage distinct biological and cognitive pathways in autistic and neurotypical children. This study examined whether a 12-week anti-inflammatory dietary protocol produces group-specific neuroimmune-metabolic signatures and cognitive responses in autistic children, neurotypical children receiving the same diet, and untreated neurotypical controls. Methods: Twenty-two children (11 with ASD, six a on neurotypical diet [NT-diet], and five neurotypical controls [NT-control]) completed pre-post assessments of plasma IFN-γ, CXCL1, RANTES (CCL5), trimethylamine-N-oxide (TMAO), and an extensive ENI-2/WISC-IV neuropsychological battery. Linear mixed-effects models were used to test the Time × Group effects on biomarkers and cognitive domains, adjusting for age, sex, and baseline TMAO. Bayesian estimation quantified individual changes (posterior means, 95% credible intervals, and posterior probabilities). Immune-cognitive coupling was explored using Δ-Δ correlation matrices, network metrics (node strength, degree centrality), exploratory mediation models, and responder (≥0.5 SD domain improvement) versus non-responder analyses. Results: In ASD, the diet induced robust reductions in IFN-γ, RANTES, CXCL1, and TMAO, with decisive Bayesian evidence for IFN-γ and RANTES suppression (posterior P(δ < 0) > 0.99). These shifts were selectively associated with gains in verbal learning, semantic fluency, verbal reasoning, attention, and visuoconstructive abilities, whereas working memory and executive flexibility changes were heterogeneous, revealing executive vulnerability in individuals with smaller TMAO reductions. NT-diet children showed modest but consistent improvements in visuospatial processing, attention, and processing speed, with minimal biomarker changes; NT controls remained biologically and cognitively stable. Network analyses in ASD revealed a dense chemokine-anchored architecture with CXCL1 and RANTES as central hubs linking biomarker reductions to improvements in fluency, memory, attention, and executive flexibility. ΔTMAO predicted changes in executive flexibility only in ASD (explaining >50% of the variance), functioning as a metabolic node of executive susceptibility. Responders displayed larger coordinated decreases in all biomarkers and broader cognitive gains compared to non-responders. Conclusions: A structured anti-inflammatory diet elicits an ASD-specific, coordinated neuroimmune-metabolic response in which suppression of CXCL1 and RANTES and modulation of TMAO are tightly coupled with selective improvements in verbal, attentional, and executive domains. Neurotypical children exhibit modest metabolism-linked cognitive benefits and minimal immune modulation. These findings support a precision-nutrition framework in ASD, emphasizing baseline immunometabolic profiling and network-level biomarkers (CXCL1, RANTES, TMAO) to stratify responders and design combinatorial interventions targeting neuroimmune-metabolic pathways.
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18. Minutoli R, Marraffa C, Failla C, Pioggia G, Marino F. Female gender and autism: underdiagnosis and misdiagnosis – clinical and scientific urgency. Front Psychiatry. 2025; 16: 1704579.
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19. Mitchell KJ, Dahly DL, Bishop DVM. Conceptual and methodological flaws undermine claims of a link between the gut microbiome and autism. Neuron. 2026; 114(2): 196-211.
The idea that the gut microbiome causally contributes to autism has gained currency in the scientific literature and popular press. Support for this hypothesis comes from three lines of evidence: human observational studies, preclinical experiments in mice, and human clinical trials. We critically assessed this literature and found that it is beset by conceptual and methodological flaws and limitations that undermine claims that the gut microbiome is causally involved in the etiology or pathophysiology of autism.
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20. Nkgaphela MR, Sumbane GO, Hlahla LS, Mokhwelepa LW. Parenting on the margins: a qualitative study of the challenges encountered by fathers of children with autism in Limpopo Province, South Africa. Front Psychiatry. 2025; 16: 1730241.
BACKGROUND: Autism spectrum disorder (ASD) has a profound impact on families, including fathers, who often face multiple challenges while raising their children. Fathers of children with ASD frequently experience stress, financial difficulties, stigma, and limited support, which can negatively affect their wellbeing and caregiving capacity. METHODS: A qualitative, phenomenological research design was employed to gain a detailed understanding of the challenges faced by fathers. Non-probability purposive sampling was used to recruit 15 fathers of children with ASD. Data were collected through semi-structured interviews and analyzed using Tesch’s eight steps of data analysis. RESULTS: The findings showed challenges directly related to ASD, social challenges associated with caring for children with ASD, and service provision challenges experienced by fathers. CONCLUSION: Fathers of children with ASD face a wide range of difficulties that extend beyond caregiving and include difficulties in the management of behavioral problems, inadequate service support, and societal stigma. An effective intervention program should incorporate the unique challenges and experiences of fathers of children with ASD to ensure that they receive appropriate assistance. These findings can be used to monitor and evaluate the support provided to fathers of children with ASD.
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21. Paiva JVB, Silva HSB, Lowenthal R, Mecca TP. Co-occurring mental health disorders in a Brazilian sample of adults with autism spectrum disorder: A focus on gender disparities. Trends Psychiatry Psychother. 2026.
INTRODUCTION: Adults with Autism Spectrum Disorder (ASD) often present with core symptoms and co-occurring conditions that require multidisciplinary support. The objective of this study is to describe the sociodemographic and clinical profile of a sample of Brazilian adults with ASD, with a focus on the prevalence of co-occurring mental health disorders and the investigation of gender-related disparities. METHODS: A total of 117 adults with a previous diagnosis of ASD (60.7% female; mean age = 31.84, SD = 10.03; age range: 18-61 years) were recruited by convenience sampling. Participants completed a sociodemographic and clinical history questionnaire. We analyzed associations between co-occurring mental health disorders and biological sex. RESULTS: Most participants had completed at least high school (95.7%). Co-occurring neurodevelopmental disorders were present in 35.9% of the sample. ADHD was the most common (30.8%). Co-occurring mental health disorders were reported by 75.2% of participants, with anxiety disorders being the most frequent (71.8%). A statistically significant gender disparity was observed, showing that women had a significantly higher prevalence of at least one mental health disorder (85.9% vs. 58.7%), anxiety (83.1% vs. 54.3%), and depression (62% vs. 37%) compared to men. CONCLUSION: While not generalizable due to the convenience sampling method, these results contribute to a growing body of evidence on the high rates of co-occurring mental health disorders in adults with ASD, especially in women. This study supports the call for an expanded research agenda in Brazil to better understand the clinical reality and guide future support strategies for this population.
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22. Palmer RF, Kattari D. Chemical Intolerance Is Associated with Autism Spectrum and Attention Deficit Disorders: A Five-Country Cross-National Replication Analysis. J Xenobiot. 2026; 16(1).
BACKGROUND: Chemical Intolerance (CI), Autism Spectrum Disorder (ASD) and Attention Deficit Hyperactive Disorder (ADHD) are conditions with rising incidence rates not fully explained by greater awareness or changes in diagnostic practices. It is now generally accepted that the interaction between genetic and environmental exposures plays a role in all of these conditions. Prior studies show that these conditions co-occur. This study seeks to explore previous findings using an international sample. METHODS: A five-country (N = 5000) stratified panel survey was used to assess self-reported CI in themselves, and ASD and ADHD in their children. A generalized linear model was used to estimate Odds Ratios. Age- and sex-adjusted logistic models used CI as a predictor of ASD and ADHD in separate models. RESULTS: Compared to those classified as Low CI, High levels of CI were associated with greater Odds Ratios (OR) of reporting a child with ASD and ADHD in all countries except Japan. Italy, India, and the USA had over twice the OR of reporting a child with ASD. Mexico had over 1.9 times the OR. The results with ADHD are similar to the ASD results. CONCLUSIONS: The results of this study are consistent with two prior U.S. studies, showing an association between ASD and ADHD among women who have CI. However, cross-cultural comparisons, especially prevalence estimates for ASD and ADHD, cannot be interpreted as epidemiologic rates due to serious limitations of the survey methodology. No causal relationship should be inferred from this study.
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23. Santana-Coelho D, Dos Santos de Bessa R, Romcy-Pereira RN, de la Flor MA, O’Connor JC. The role of the kynurenine pathway in the pathophysiology of autism-like phenotype induced by maternal inflammation in male mice. Neurobiol Dis. 2026; 220: 107282.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with core symptoms that may include deficits in communication, social challenges, and repetitive/stereotyped behavior. The etiology of ASD is not well defined, but both genetic and environmental risk factors have been identified. In animal models, prenatal maternal immune activation precipitates the development of a behavioral phenotype resembling ASD, but the mechanisms by which this occurs are not fully understood. Inflammation can upregulate the kynurenine pathway metabolism through the enzyme indoleamine 2,3-dioxygenase-1 (IDO). Increased levels of kynurenines during development can have deleterious consequences leading to behavioral deficits in adulthood. We sought to determine whether the kynurenine pathway plays a pathogenic role in the development of an ASD-like phenotype using a well-characterized mouse model of maternal immune activation (MIA). Multiparous IDO null (IDO-/-) or C57BL/6 J wild-type dams were administered the viral mimetic polynosinic:polycytidylic acid (Poly IC) at gestational day 12.5. A similar immune response to Poly IC occurred in the maternal plasma and placenta of both genotypes, while kynurenine metabolism was only increased in the fetal tissue of WT mice exposed to Poly IC challenge. Interestingly, N-methyl-d-aspartate (NMDA) receptor subunit expression was reduced in the fetal brains of male WT, but not IDO-/-, after MIA with Poly IC. Here, we used machine-learning as an advanced method to evaluate ultrasonic vocalizations. Offspring exposed to prenatal MIA exhibited fewer and less complex ultrasonic vocalizations along with diminished social preference; however, MIA-induced repetitive/stereotyped behaviors were only present in WT mice. Taken together, our data indicate that fetal IDO1-dependent kynurenine metabolism mediates distinct components of the MIA-induced ASD-like phenotype in male mice, which may be related to alterations in the expression of NMDAR subunits during neurodevelopment.
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24. Shepherd D, Landon J, Goedeke S. How Might Comorbid Conditions Co-occurring With Child Autism Impact Parenting Stress?. J Autism Dev Disord. 2026.
PURPOSE: Many Autistic individuals present with comorbid conditions, including internalising and externalising behaviours, sleep issues, intellectual disabilities, and gastrointestinal dysfunction. We investigated the impact of these child comorbidities on parenting stress in an effort to elucidate the underlying mechanism and how they interact with autistic core symptoms. In total, three theoretical models were tested, being the Amplification, Additive, and Mediation Hypotheses. METHODS: Participants were 453 parents of an Autistic child reporting on their child’s core symptoms, comorbid conditions, and their parenting stress. RESULTS: Correlation analyses reveal moderate associations between the comorbid conditions and parenting stress, but uncovered a weak link between core symptoms and parenting stress. Regression analyses revealed that, when key variables were allowed to adjust for one another, comorbid conditions were found to be independent predictors of parenting stress. A subsequent path analysis indicated that internalising and externalising behaviours partially mediated the relationship between core symptoms and parenting stress. There was no evidence to support the Amplification Hypotheses, and limited evidence to support the Additive and Mediation Hypotheses. CONCLUSION: The findings reinforce the argument that Autistic children require multidisciplinary services and interventions that stretch beyond their primary diagnosis. Further suggestions for future research into child comorbid factors and parenting stress are discussed.
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25. Shield A, Parnes G, Chenausky K. Minimally-Signing Autism in Deaf Children of Deaf Parents: A Case Series. Autism Dev Lang Impair. 2026; 11: 23969415261416767.
Minimally-verbal autism is well described in hearing populations, but little is known about minimally-signing autism in deaf children with early, full access to sign. This case series presents seven deaf autistic children born to Deaf parents and exposed to American Sign Language (ASL) from birth who nonetheless remain minimally expressive signers. Participants were drawn from a nationwide cohort of 23 native-ASL deaf children with autism. Four children completed the Autism Diagnostic Observation Schedule-2 (ADOS-2); all caregivers completed the Social Communication Questionnaire (SCQ). Selected children also received the Test of Nonverbal Intelligence-4 (TONI-4) and the ASL Receptive Skills Test (ASL RST). Six of seven children scored above the SCQ cutoff, and all four ADOS-2 cases met diagnostic criteria. Across cases, hallmark autistic features were evident, including limited reciprocal interaction, reduced joint attention, and restricted/repetitive behaviors. Expressive signing ranged from absent to small repertoires of echolalic or idiosyncratic signs, rarely coordinated with gaze or affect; symbolic play was similarly constrained. Two children completed standardized testing: one showed average nonverbal cognition but ASL comprehension <3 years; the other showed below-average nonverbal cognition and minimal ASL comprehension. These findings demonstrate that minimally expressive autism occurs in Deaf children with full access to a natural signed language, ruling out language deprivation or auditory processing as necessary explanations. Instead, domain-general constraints (limited generativity, social-pragmatic integration, and sensorimotor planning) likely contribute across modalities. Documenting minimally signing autism underscores the need for modality-sensitive diagnostic tools, neurodiversity-affirming supports, and longitudinal research to better understand and serve this underserved group.
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26. Taylor MK, Fredlund F, Richter M, Wickham J, Rask O, Ekdahl CT. Immune biomarkers for epilepsy in autism: indications of cytokine alterations in an exploratory cross-sectional pediatric study. Front Neurol. 2025; 16: 1720712.
BACKGROUND: Children with autism spectrum disorder (ASD) are at increased risk of epilepsy (EP), but distinguishing epileptic seizures from ASD-associated behavior remains a clinical challenge. Although previous studies have reported changes in peripheral immune markers in adults with EP, it remains unclear whether similar immune signatures are present in pediatric patients with both ASD and EP, and more pronounced than in children with ASD alone. METHODS: We conducted an exploratory, prospective, cross-sectional study of children aged 9-14 years with mild ASD, with or without EP, recruited from outpatient settings. Peripheral blood samples were analyzed by enzyme-linked immunosorbent assay for 23 immune proteins and by flow cytometry for leukocyte population counts. Analyses included t-tests / Mann-Whitney U-tests, post hoc tests for multiple comparisons, and effect size / power analyses. RESULTS: A total of 30 children were included, n = 21 with primarily mild ASD and n = 9 with mild ASD and EP. The epilepsy cases consisted of children with generalized seizures or self-limited epilepsy with centrotemporal spikes. Three immune proteins, Interleukin (IL)-12p70, IL-13 and IL-1β, were significantly increased in the ASD + EP group compared to the ASD-only group. However, the statistical power was low, and group differences did not remain significant after correction for multiple comparisons, even though effect sizes were moderate to large. No differences in the counts of activated leukocyte populations were observed. CONCLUSION: These findings raise the possibility that immune system alterations may be associated with EP in children with ASD and could potentially aid diagnosis, although larger studies are needed to confirm these findings.
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27. Wan L, Huang C, Kong W, Li M, Lu C. The analysis of gut microbiota characteristics in children with global developmental delay. Front Cell Infect Microbiol. 2025; 15: 1606453.
OBJECTIVE: To explore the composition and functional changes of gut microbiota in children with Global Developmental Delay(GDD),and to explore the role of gut microbiota in the pathogenesis of GDD using high-throughput sequencing. METHODS: A prospective study was conducted to select 26 children diagnosed with GDD at Longgang District Maternal and Child HealthCare Hospital of Shenzhen City from January 2024 to December 2024 as the disease group(GDD), and 59 healthy children of the same age were selected as the healthy group(HC).General information of the children was collected through a questionnaire survey, and fecal samples from all participants were collected. Total DNA was extracted and amplified, and high-throughput sequencing of the 16S rRNA gene was performed for biological analysis of the sequencing results. RESULTS: The alpha diversity analysis revealed a significant reduction in microbial diversity in the GDD group (Chao1 index, P = 0.007), while the beta diversity showed significant segregation between groups (R² = 0.067, P = 0.001);At the phylum level, the relative abundance of Actinobacteria was significantly increased (P < 0.01), while the abundance of Bacteroidetes was significantly decreased (P < 0.05) in the GDD group;At the genus level, the abundance of Bifidobacterium, Fusicatenibacter, and Erysipelatoclostridium were significantly increased in the GDD group (all P < 0.001), while the abundance of Faecalibacterium, Phascolarctobacterium, and Alistipes were significantly reduced (all P < 0.001);Functional prediction based on 16S rRNA data suggested potential differences in microbial metabolic pathways, including mRNA surveillance, proteasome, and atrazine degradation, in the GDD group. These findings hypothesize a functional shift in the gut microbiome associated with GDD, which requires validation by direct metagenomic or metabolomic methods. CONCLUSION: Children with GDD have significant differences in gut microbiota composition and diversity compared to HC,and the abundance and abnormal metabolic pathway may be closely related to the neuroinflammatory process, suggesting that intestinal microecological regulation may become a new intervention target for GDD.
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28. Yan P, Zhu X, Tao Q, Shao X. Neuroplasticity mechanisms of NDBIs in autism: a review from brain connectivity to behavioral improvement. Eur J Med Res. 2026.
Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by deficits in social communication and interaction. In recent years, Naturalistic Developmental Behavioral Interventions (NDBI), particularly the Early Start Denver Model (ESDM), have demonstrated significant efficacy in enhancing social cognitive functions in children with autism. This review synthesizes current neuroimaging research on ESDM and related NDBI approaches, with a focus on how these interventions promote neuroplasticity by remodeling brain connectivity within social cognitive networks. We examine the neural substrates underlying behavioral improvements and discuss the critical factors influencing intervention outcomes, including timing, intensity, and duration. By integrating findings on brain network reorganization and functional enhancement, this article aims to provide theoretical insights and practical guidance for optimizing clinical interventions and informing future research directions in ASD treatment.