1. Aitella E, Neri L, Azzellino G, Romano C, De Martinis M, Roncone R, Ginaldi L. Role of Mast Cells and Neuroinflammation in Neuropsychiatric Disorders of the Developmental Period. Biomolecules;2026 (Apr 2);16(4)

Mast cells can release different kinds of molecules as a response to different stimuli, particularly proinflammatory mediators that contribute to neuroinflammation. The enrichment of mast cells in specific areas of the nervous system and gastrointestinal tract, together with their degranulation, histamine and neuropeptide secretion, such as substance P, and mast cell-microglia interactions, may promote neuroinflammatory signaling in neurological and psychiatric disorders during childhood and adolescence. The aim of this review is to explore the mast cell-related molecular aspects of the main neuropsychiatric disorders of the developmental period, such as ADHD, autism spectrum disorder, and epilepsy, as well as anxiety and depression. The translational analysis of molecular pathways and the relationships involved may contribute to the development of innovative and targeted therapeutic approaches.

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2. Akman N, Kömüroğlu AU, Çibuk S, Altındağ F, Yılmaz O, Ateşşahin A. Effects of Infliximab in a Propionic Acid-Induced Experimental Autism Rat Model. Biomedicines;2026 (Apr 20);14(4)

Background/Objectives: Autism spectrum disorder (ASD) is a neurodevelopmental condition increasingly associated with dysregulated neuroimmune signaling and altered neurotrophic homeostasis. Tumor necrosis factor-alpha (TNF-α) has been implicated in ASD pathophysiology; however, the downstream effects of TNF-α blockade on cytokine-neurotrophin interactions during neurodevelopment remain insufficiently characterized. In this study, we evaluated the effects of infliximab (IFX), a monoclonal anti-TNF-α antibody, on behavioral performance, neuroinflammatory cytokine profiles, glial activation, and brain-derived neurotrophic factor (BDNF) signaling in a propionic acid (PPA)-induced experimental ASD rat model. Methods: Experimental ASD was induced by propionic acid administration in rats. Animals were divided into control and treatment groups. Behavioral performance was assessed using the Morris Water Maze, direct social interaction, and three-chamber sociability tests. Levels of TNF-α, interleukin-1 beta (IL-1β), interleukin-6 (IL-6), and BDNF were measured in serum, hippocampal, and cerebellar tissues. Microglial and astrocytic activation were evaluated using CD11 and GFAP immunohistochemistry. Results: PPA administration resulted in pronounced impairments in learning, memory, and social behaviors, accompanied by elevated proinflammatory cytokine levels, increased BDNF expression, and marked glial activation in the hippocampus and cerebellum. Although IFX treatment significantly reduced TNF-α levels in central tissues, it did not improve behavioral deficits and was associated with persistently elevated IL-1β and IL-6 levels, sustained glial reactivity, and further alterations in BDNF levels. Conclusions: These findings suggest that TNF-α suppression alone does not normalize the disrupted cytokine-neurotrophin axis and may differentially modulate BDNF-related neuroplastic signaling during development. In conclusion, this study indicates that non-selective TNF-α blockade during neurodevelopment fails to confer behavioral benefit in experimental ASD and highlights the importance of considering cytokine-BDNF pathway interactions when designing immunomodulatory strategies for neurodevelopmental disorders.

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3. Alqahtani SH, Aodah AH, Alshawakir YA, Alshehri BY, Alamer AA, Alfassam HA, Almughem FA, Alshehri AA, Tawfik EA. Correction: Alqahtani et al. The Development of Risperidone-Loaded Microfibers via Centrifugal Spinning to Enhance the Palatability of a Potential Drug for Autistic Children. Pharmaceutics 2025, 17, 1403. Pharmaceutics;2026 (Apr 16);18(4)

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4. Archer J, O’Donnell S, Buckman M, Bain N, Goel H. Expansion of the Phenotypic Spectrum of TNRC6B-Related Neurodevelopmental Disorder in a Three-Generation Family with 22q13.1 Deletion. Genes (Basel);2026 (Apr 15);17(4)

Background:TNRC6B encodes a core effector of the RNA-induced silencing complex and is essential for miRNA-mediated gene silencing. Pathogenic variants in TNRC6B have recently been associated with a neurodevelopmental disorder characterised by developmental delay, intellectual disability, and behavioural difficulties. Methods: We report a three-generation family with a 22q13.1 deletion encompassing only exons 2-23 of TNRC6B. Clinical data were collected from medical records and family interviews, and the findings were compared with those of published cohorts. Results: Affected individuals presented with developmental delay, speech and language impairment, autism spectrum disorder, ADHD, oppositional defiant disorder, craniosynostosis, joint laxity, clinodactyly, and cardiac valve anomalies. The father and paternal grandmother had learning difficulties and neurobehavioral features, while the proband exhibited a more severe phenotype. Conclusions: This report expands the phenotypic spectrum of TNRC6B-related neurodevelopmental disorder, highlighting craniosynostosis, joint and connective tissue features, and cardiac involvement. Our findings also underscore variable expressivity across generations and emphasise the relevance of both copy-number and sequence variants in TNRC6B in patients with neurodevelopmental disorders.

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5. Asonitou K, Kottara M, Charitou S, Koutsouki D. Fundamental Motor Skills and Motor Competence in Children and Adolescents with Autism Spectrum Disorder (ASD): A Narrative Review. Children (Basel);2026 (Apr 8);13(4)

Background/Objectives: Children and adolescents on the autism spectrum often experience delays in both gross and fine motor skills, which can limit their participation in physical activity and everyday tasks. Methods: This narrative review synthesizes evidence from 88 peer-reviewed studies examining fundamental motor skills, broader motor competence, and perceived motor competence in individuals aged 3-18 years with a formal diagnosis of autism. Results: Across the literature, children with autism consistently demonstrate lower proficiency in locomotor and object control skills compared with their typically developing peers, while perceived competence emerges as an important factor influencing motivation and engagement. Intervention studies-most commonly school-based or structured physical activity programs-generally report short-term improvements in motor performance, although outcomes vary depending on study design, dosage, and assessment tools. The review also highlights substantial methodological heterogeneity and a notable lack of evidence concerning adolescents, underscoring the need for longitudinal and developmentally sensitive research. Conclusions: Practical implications are discussed for creating supportive movement environments in educational and adapted physical activity settings. This review follows a narrative synthesis approach informed by a structured search strategy.

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6. Barnum J, Blackham M, Hollingshead M, Hatch M, Wilkinson S, Gillies M, Lundwall RA. Evaluating an online self-compassion-based mindfulness course for mothers of autistic children. Front Psychol;2026;17:1761742.

Self-compassion-based mindfulness training has been associated with improved psychological well-being. This study examined whether an established online self-compassion course was associated with changes in self-compassion, flourishing, parenting stress, parenting daily hassles, and family quality of life among mothers of infants, including mothers of autistic children. Mothers were grouped based on whether they had an autistic child or not. We assessed baseline differences prior to course enrollment, pre-post changes among participants who completed the course, and whether changes differed by group. At baseline, 67 mothers completed at least three questionnaires. Between 27 and 44 mothers (depending on the measure) completed both pre- and post-course assessments. At baseline, mothers of autistic children reported lower family quality of life and higher parenting stress and daily hassles than comparison mothers. Among course completers, self-compassion and flourishing increased from pre- to post-course. No significant group × time interactions were observed. Parenting stress, daily hassles, and family quality of life did not show detectable changes over time. Findings are preliminary and non-causal due to the absence of a control group. Results are consistent with prior research indicating lower baseline well-being among mothers of autistic children and suggest that online self-compassion training may support internal coping processes regardless of autism status. However, some caregiving demands appear stable despite improvements in self-compassion.

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7. Benjamin LR, Stahmer AC, Johnson AR, Lau A, Roesch SC, Hernandez S, Brookman-Frazee L. Effectiveness of Multi-Level Implementation Strategies on Caregiver-Identified « Top Problems: » Secondary Outcomes of a Hybrid Trial of Two Autism Interventions. Evid Based Pract Child Adolesc Ment Health;2025 (Oct 23)

BACKGROUND: Meeting the needs of autistic children requires the effective implementation of evidence-based interventions (EBIs). The TEAMS project tested the effectiveness of leader-level and provider-level implementation strategies to support the implementation of two autism-focused EBIs. The leader-level strategy was found effective in improving observed provider fidelity and standardized caregiver-reported child outcomes. This study extends the primary trial findings by assessing individualized child outcomes. OBJECTIVE: The current study examines the individual and combined effects of the TEAMS implementation strategies – TEAMS Leadership Institute (TLI) and TEAMS Individualized Provider Strategy (TIPS) – on caregiver-identified Top Problems. METHOD: Data were extracted from the TEAMS project, a hybrid type 3 implementation-effectiveness trial testing the effects of implementation strategies when paired with AIM HI (An Individualized Mental Health Intervention for Autism) in mental health programs (Study 1) and CPRT (Classroom Pivotal Response Teaching) in classrooms (Study 2). Programs/districts were randomized to TLI and/or TIPS. Data from 353 caregivers of autistic children (M (age) = 7.89 years, SD = 2.92, 80.1% male, 44.2% Latinx) were analyzed. Clinical outcomes were measured using the Top Problems Assessment at intake and after 6 months. RESULTS: Controlling for study intervention (AIM HI or CPRT), a significant TLI x Time interaction (B = -0.95, p = .021) indicated greater reductions in Top Problem intensity in the TLI (vs. no-TLI) condition. No significant effects were found for TIPS or TIPSxTLI. CONCLUSION: Findings support the effectiveness of leader-focused implementation strategies in improving the outcomes valued most by families.

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8. Benvenuto M, Costantino U, Palumbo P, Carella M, Castori M, d’Orsi G, Palumbo O. A 350 kb NEXMIF Microdeletion Identified by Chromosomal Microarray in an Adult Patient with Jeavons Syndrome. Genes (Basel);2026 (Apr 13);17(4)

Background: Pathogenic variants in the NEXMIF gene have been linked to a broad neurodevelopmental phenotype, encompassing autism spectrum disorder, intellectual disability, and epilepsy. Among epileptic manifestations, Jeavons Syndrome was observed in 24% of affected females in the largest cohort of NEXMIF-related disorders reported to date, but long-term adult outcomes remain poorly documented. Methods and Results: We report a 25-year-old Italian woman with drug-resistant Jeavons syndrome in which the combined approach of next-generation sequencing and chromosomal microarray analysis allowed us to identify, after a 13-year diagnostic odyssey, a de novo ~350 Kb microdeletion at Xq13.2q13.3 encompassing the entire NEXMIF coding region, with no other OMIM genes involved. To our knowledge, this is the first reported case of a patient harboring a deletion restricted to the entire coding sequence of the NEXMIF gene. The patient presented with moderate intellectual disability and seizure onset at age 10 years. Her epilepsy proved refractory to multiple antiseizure medications. Video-EEG/polygraphic monitoring at age 23 years confirmed epilepsy with eyelid myoclonia, demonstrating characteristic eyelid myoclonia with absences triggered by eye closure. Conclutions: This case provides a detailed clinical description of an adult patient useful for genetic counseling regarding adult outcomes and prognostic expectations. Furthermore, this study underscores the diagnostic value of chromosomal microarray analysis alongside next-generation sequencing in individuals with intellectual disability and drug-resistant epilepsy, in order to expedite the diagnostic pathway and enable timelier and more appropriate patient management.

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9. Chiodi A, Mosca E, Cupaioli FA, Mezzelani A. Inference of Autism Risk Genes Through Comparative Sociogenomics and Molecular Network Analysis. Genes (Basel);2026 (Mar 25);17(4)

BACKGROUND/OBJECTIVES: Comparative sociogenomics combines multiple scientific fields to investigate the genetic basis of social behavior across species. Our aim was to uncover the genetic roots of human sociability with possible implications for autism, a neurodevelopmental disorder characterized by social and communication deficits. METHODS: We conducted molecular network analysis on 659 sociability-related genes from different animal species, including humans. RESULTS: We identified a network of 240 genes strongly associated with autism (p < 10(-15)), with 194 inferred. These genes were grouped into 23 functional communities related to cell-cell junctions and communication, inflammatory and synaptic signaling, neurotransmitter receptors and semaphorin signaling among the more enriched meta-pathways. Some network genes were clustered in nine chromosomal bands (FDR < 0.25), indicating genes' functional cooperation, shared evolutionary history, and coordinated regulation, and few genes are physically in linkage with ASD genes (within 0.5 cM) or controlled by human-accelerated regions. CONCLUSIONS: The most compelling inferred autism risk genes are MED12, FZD9, and DMD since they are differentially expressed in autistic brains, physically linked to key autism genes, controlled by human-accelerated regions, or mapped to chromosomal regions enriched in network genes. If validated, they could represent novel biomarkers, advancing the understanding of autism's genetic makeup.

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10. Christensen D, Barisano G, Wilkes BJ, Shin YS, Wang J, Parks E, Orlando AM, Karmakar B, Coombes SA, Sotgiu S, Wang Z. Altered cerebrospinal fluid-based clearance mechanisms in aging autistic adults. Res Sq;2026 (Apr 20)

BACKGROUND: Autistic adults demonstrate a 4-6-fold increased risk of unspecified dementia compared with the general population; however, the neurobiological substrates underlying this elevated risk remain unexplored. Alterations in cerebrospinal fluid-based mechanisms involved in brain metabolic waste clearance may represent a shared neuropathological pathway between autism spectrum disorder and dementia. Specifically, developmental deviations in cerebrospinal fluid-related imaging markers have been consistently reported in autistic infants, children, and adolescents, and brain amyloid and other metabolic waste accumulation is a hallmark of Alzheimer’s disease and related dementias. Despite this overlap, cerebrospinal fluid-based regulatory mechanisms have not been systematically examined in ageing autistic adults. Here, we used a multimodal magnetic resonance imaging approach to quantify structural and diffusion-based markers of cerebrospinal fluid regulation in middle-aged and older autistic adults compared with matched controls. METHODS: Forty-nine autistic adults aged 30-73 years and 61 age-, sex-, and intelligence quotient-matched controls underwent T1-, T2-, and diffusion-weighted imaging. Measures included white matter perivascular space volume fraction, count fraction, and mean diameter; diffusion-based indices of fluid movement along perivascular pathways; and volumes of the lateral ventricles and choroid plexus. RESULTS: With increasing age, autistic adults exhibited significantly greater increases in white matter perivascular volume fraction within the left inferior parietal lobule compared with controls. Autistic adults also showed significantly reduced diffusion indices and larger bilateral lateral ventricle and choroid plexus volumes relative to controls. Across both groups, increasing age was associated with higher white matter perivascular volume fraction in the right pars triangularis, reduced diffusion indices, and enlargement of the bilateral lateral ventricles and left choroid plexus. LIMITATIONS: First, the cross-sectional design limited our ability to quantify intra-individual variability and capture longitudinal trajectories. Second, the sample primarily comprised cognitively unimpaired autistic adults. Third, participants were predominantly of average or above-average intelligence; thus, findings may not generalize to autistic adults with ID. Finally, health factors including sleep disturbance, cardiovascular and metabolic disease, polypharmacy, and lifelong medication exposure, may have influenced these findings. Future large-scale studies should systematically evaluate their potential confounding and moderating effects. CONCLUSIONS: These findings demonstrate that ageing autistic adults exhibit convergent alterations in cerebrospinal fluid regulatory mechanisms, reflected in perivascular space morphology, diffusion-based fluid dynamics, and ventricular and choroid plexus enlargement. Together, the results link early developmental deviations to later-life vulnerability and highlight cerebrospinal fluid dysregulation as a potential candidate neurobiological substrate contributing to the increased prevalence of dementia in autistic adults.

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11. D’Agostino SR, Bhana-Lopez N, Landon TJ, Roylance A, Briggs A. Building on Common Ground: Autistic Adults’ and Parents of Young Autistic Children’s Perspectives of Early Behavioral Intervention Practices. Behav Sci (Basel);2026 (Apr 15);16(4)

The purpose of this study was to examine the perspectives of autistic adults and parents of autistic children regarding applied behavior analysis (ABA)-based early intervention, their beliefs about best practices in early intervention, and their recommendations for improving service delivery. A mixed-methods design was used to compare quantitative survey data from 70 participants (33 autistic adults, 37 parents) with qualitative interview responses (12 autistic adults, 12 parents), exploring perceptions of ABA and early intervention implementation. Quantitative analyses revealed significant group differences in perceptions of ABA’s benefits and side effects: parents rated ABA-based interventions more positively overall, whereas autistic adults expressed greater concern about potential harms. Despite these differences, both groups endorsed core best-practice principles, emphasizing naturalistic, child-led, and person-centered approaches. Qualitative findings further highlighted the importance of transparency, individualized goal setting, and partnership between families and practitioners. Across groups, participants valued early interventions that promote children’s autonomy and overall well-being. Together, these findings reveal both areas of convergence and divergence in how invested parties perceive ABA-based early intervention and its implementation. Implications for practice include the need to strengthen collaborative, compassionate, and advocacy-driven partnerships among autistic individuals, families, and behavior analysts to enhance social validity, ethical integrity, and inclusivity in early intervention systems.

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12. Davignon MN, Nugent JR, Campbell CI, Mertens JR. Electronic Health Record Monitoring Dashboard and Developmental Screening in Pediatric Patients. JAMA Netw Open;2026 (May 1);9(5):e2610380.

IMPORTANCE: Early identification of developmental delay and autism in young children improves outcomes, but screening rates in young children are low, particularly for some patient groups. OBJECTIVE: To examine patient- and system-level characteristics associated with screening return rates and timelines and evaluate the association of an electronic health record (EHR)-based dashboard with these outcomes. DESIGN, SETTING, PARTICIPANTS: This retrospective cohort study using EHR data from a large integrated health care system analyzed screening questionnaire return rates and time to return among children aged 6 to 66 months referred to a secondary screening program. A cross-sectional analysis (September 1, 2022, to September 1, 2023) used adjusted modified Poisson regression and restricted mean survival time (RMST). Changes in return rates, as well as time to return and time to case completion, were assessed before (November 2, 2022, to March 31, 2023) and after (November 2, 2023, to March 31, 2024) implementation of an EHR-embedded monitoring dashboard. Data were analyzed from December 5, 2023, to February 20, 2026. EXPOSURES: Patient and organizational characteristics based on EHR data and indicators for dashboard implementation. MAIN OUTCOMES AND MEASURES: Return rates of screening questionnaires, time to return questionnaires in days, and time to case completion in days (review questionnaire, recommendations to families, and place relevant referrals). RESULTS: A total of 17 303 screening referral orders (11 351 [65.6%] among males; mean [SD] age, 27.73 [12.79] months; 15 853 [91.6%] aged 16-66 months) for 16 038 unique patients were included in this study. Questionnaires were returned for 7500 referrals (43.3%). Lower return rates were associated with older age (adjusted relative risk [ARR], 0.71 [95% CI, 0.68-0.75]), non-English language preference (ARR range, 0.65 [95% CI, 0.47-0.89] to 0.73 [95% CI, 0.65-0.83]), Black race (ARR, 0.79 [95% CI, 0.72-0.86]) or Hispanic ethnicity (ARR, 0.85 [95% CI, 0.81-0.89]), highest neighborhood deprivation quintile (ARR, 0.92 [95% CI, 0.86-0.98]), and Medicaid insurance (ARR, 0.85 [95% CI, 0.81-0.89]). Online portal account access was linked to higher return rates (ARR, 1.99 [95% CI, 1.75-2.26]) and faster return times (adjusted RMST difference, -6.42 days [95% CI, -7.26 to -5.59 days]). Older age was associated with longer return times (adjusted RMST difference, 6.82 days [95% CI, 5.90-7.75 days]). After dashboard implementation, return rates increased from 41.2% (2823 of 6854) to 54.7% (3883 of 7097) (ARR, 1.34 [95% CI, 1.29-1.38]), while decreases were observed for time to return (adjusted RMST difference, -6.62 days [95% CI, -7.18 to -6.07 days]) and completion (adjusted RMST difference, -37.07 days [95% CI, -38.47 to -35.67] days). CONCLUSIONS AND RELEVANCE: The findings of this cohort study suggest that completion of recommended developmental screening can be challenging for certain patient populations. EHR-based tools may be useful to improve return rates and reduce return and case completion times.

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13. Derby B, Wilson L, Kelley E. Development and preliminary psychometric evaluation of the symptoms of autistic depression-parent scale. Front Pediatr;2026;14:1735273.

INTRODUCTION: The current study preliminarily assessed the psychometric properties of the Symptoms of Autistic Depression-Parent (SAD-P) scale. METHOD: The SAD-P and the Child Behaviour Checklist (CBCL) were administered to 196 parents of autistic and neurotypical youth. RESULTS: A preliminary exploratory factor analysis (EFA) suggested a 1-factor model best suited the SAD-P based on factor loadings, parsimony, and interpretability. EFAs conducted separately for parents of neurotypical youth and autistic youth also supported a one-factor solution. The SAD-P demonstrated acceptable convergent validity (r =.65) with the CBCL Depression subscale and good discriminant validity (r =.42) with the Conduct Problems subscale. DISCUSSION: Although this study is a preliminary step in scale development and more research is needed to validate the scale, the SAD-P shows promise as a preliminary measure of depressive symptoms in both autistic and neurotypical youth.

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14. Dukuze N, Hitayezu J, Uyisenga JP, Uwibambe E, Caberg JH, Dideberg V, Bours V, Alagbonsi AI, Mutesa L, Uwineza A. The First Case of Kleefstra Syndrome in a Rwandan Patient with Global Developmental Delay. Genes (Basel);2026 (Apr 7);17(4)

Background: Kleefstra syndrome (KS) is a rare neurodevelopmental disorder caused by haploinsufficiency of EHMT1; it is characterized by global developmental delay, intellectual disability, hypotonia, distinctive facial features, and variable congenital anomalies. Autistic features, behavioral abnormalities and severe speech impairment are frequently reported. However, molecularly confirmed cases of KS from Africa remain extremely limited, largely due to restricted access to genomic diagnostic infrastructures. Methods: We describe a 15-month-old patient from Rwanda presenting with neonatal hypotonia, global developmental delay, short stature, and characteristic dysmorphic facial features. Comprehensive clinical evaluation was performed, followed by trio-based exome sequencing to identify the underlying genetic cause of this neurodevelopmental disorder. Results: Exome sequencing identified a de novo heterozygous frameshift variant in EHMT1 (NM_024757.5: c.2871dup; p. Phe958Leufs*219), confirming the diagnosis of KS. Conclusions: This report presents the first molecularly confirmed case of KS in Rwanda. It highlights additional clinical features like bilateral 5th toe clinodactyly, short stature and absence of obesity in KS. There is a need to further delineate the study of EHMT1 and investigate the natural history of KS across different populations for optimal patient management and to reduce diagnostic odyssey. The diagnostic utility of exome sequencing for neurodevelopmental disorders needs to be strengthened, with strong emphasis on expanding genomic medicine to help diagnose rare diseases in resource-limited settings.

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15. Ede İleri G, Serin Y, Akın P, Ataş Y, Çınar S. Eating Behaviors and Energy and Nutrient Intakes in Children with Autism Spectrum Disorder with and Without Sensory Integration Difficulties. Children (Basel);2026 (Mar 30);13(4)

Background/Objectives: Sensory processing disorders (SID) are common in children with autism spectrum disorder (ASD) and can influence children’s eating behaviors. Evaluating the nutritional status of children with ASD is crucial for families or caregivers to manage their feeding. Therefore, this study aimed to compare the eating behaviors and dietary intake between children with ASD and children with ASD + SID. Methods: This cross-sectional study included 72 children with ASD aged 6-15 years, of whom 36 also had SID. Sociodemographic information and dietary habits of children were collected. The children’s body weight and height were measured. Children’s eating behaviors were assessed using the Children’s Eating Behavior Scale. Dietary intake was obtained using 3-day food consumption records. Results: The rate of overweight was higher in children with ASD compared to children with ASD + SID, but there was no statistically significant difference between the groups (p > 0.05). Children with ASD + SID were more likely to skip main meals than children with ASD (p < 0.05). Children with ASD + SID had significantly lower dietary reference intake levels of energy, macronutrients, fiber, PUFAs, vitamin E, B1, B6, folate, potassium, calcium, magnesium, phosphorus, and iron compared to children with ASD (p < 0.05). Increased scores on the drinking passion subscale were identified as a risk factor for SID (OR = 2.15, 95% CI [1.30, 4.30], p = 0.005). Conclusions: The higher frequency of skipping main meals, significantly lower energy and nutrient intake in the ASD + SID group indicates that these children are at higher nutritional risk. Incorporating sensory-based assessments and interventions into nutritional management may be crucial.

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16. Fan F, Li J, Zhang X, Chen Z, Hu Y, Han F. Physical exercise therapy for autism spectrum disorder: protocol for a scoping review of systematic reviews. Syst Rev;2026 (May 4)

BACKGROUND: Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by core symptoms of impaired social communication and restricted repetitive patterns of behavior. Physical exercise therapy (PET), as a non-pharmacological intervention, has seen increasing application and research in the ASD field. Although multiple systematic reviews have examined the efficacy of PET interventions for ASD and associated factors, a scoping review is still needed to systematically analyze existing systematic reviews and meta-analyses, thereby identifying current research gaps. METHODS: This study will be based on the scoping-review methodological framework proposed by Arksey and O’Malley in 2005 and the PRISMA-ScR reporting guidelines. The search will cover four databases: MEDLINE (PubMed), EMBASE, Web of Science, and Cochrane Library (Wiley), screening systematic reviews published in English from database inception through December 2025. The study will include systematic reviews of randomized controlled trials and observational studies (with or without meta-analysis). Two reviewers will independently perform literature screening and data extraction. All eligible articles will be evaluated using the AMSTAR-2 tool. Tabulated data will be summarized through quantitative analysis, with qualitative synthesis conducted using narrative methods. DISCUSSION: This scoping review will highlight the evidence needed to guide decision-making for PET interventions in individuals with ASD. SYSTEMATIC REVIEW REGISTRATION: Open Science Framework (https://doi.org/10.17605/OSF.IO/JVM4H).

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17. Garza Guerra AJ, Mata Cortes EDR, Adame Rocha GH, Montemayor Mancias AC. Late Recognition of Autism Previously Diagnosed as Schizophrenia Following a Brief Psychotic Episode: A Case Report. Cureus;2026 (Apr);18(4):e106337.

Autism is a neurodevelopmental condition characterized by differences in social communication and patterns of behavior, interests, or activities. Many individuals remain unrecognized until adulthood or later life, particularly those who develop adaptive strategies that allow them to navigate social and environmental demands. This may complicate clinical interpretation when psychiatric symptoms arise. We present the case of a 74-year-old individual whose first contact with mental health services occurred at age 23 following a brief psychotic episode, leading to a long-standing diagnosis within the schizophrenia spectrum. Over subsequent decades, there was no recurrence of psychotic experiences or evidence of progressive functional decline. A later longitudinal reassessment, informed by developmental history, collateral information, and standardized instruments, identified a pattern of traits consistent with previously unrecognized autism. Antipsychotic medication was gradually discontinued without adverse clinical outcomes. This case highlights the importance of integrating developmental trajectories and longitudinal course into psychiatric evaluation, particularly in individuals with well-established adaptive functioning. It also illustrates how enduring neurodevelopmental differences may be misinterpreted as chronic psychiatric conditions when assessment relies predominantly on cross-sectional symptomatology.

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18. Girard S, D’Amours J, Bélisle J, Ross A, Paquet A. Physical Literacy and Physical Activity of Young Children with Developmental Disabilities: A Scoping Review. Children (Basel);2026 (Apr 15);13(4)

Background: Developing physical literacy in children with developmental disabilities (DDs) is essential to fostering their participation in physical activity. According to the Canadian Framework, physical literacy encompasses multiple interrelated components (behavioral, physical, affective, and cognitive). Such engagement provides numerous benefits, including reduced symptoms of anxiety and depression, as well as improved functional and cognitive health. However, children with DD appear to be less active than those without such conditions. Since individuals who are active during childhood and adolescence are more likely to remain active during adulthood, it becomes crucial to better understand how to support the physical literacy development of children with DD, hence enhancing their participation in physical activity. In addition, children with DD remain underrepresented in the literature, particularly with regard to their opportunities to develop their physical literacy and their varied needs, such as limited physical activity options. Objective: The aim of this scoping review was to identify and analyze the existing literature on the development of physical literacy and physical activity participation in young children (0-6 years) with DD. Methods: Four databases were searched (PsycInfo: n = 722; MEDLINE: n = 997; ERIC: n = 514; CINAHL: n = 771), and 25 articles were retained. Characteristics of these studies were analyzed quantitatively, while their scope was analyzed according to physical literacy components. Results: Most studies (80%) used a quantitative method, and nearly half (44%) concerned young children with autism spectrum disorder. A little more than half of the studies (52%) focused on early intervention programs. In regard to the scope of the studies, none addressed the cognitive component of physical literacy, indicating a lack in the current literature, and more than half provided information on how to support the affective component. Moreover, information regarding parents’ involvement in physical activity of children with DD emerged from six studies analyzed. Conclusions: The results yield interesting insights on how to support the physical literacy development of children with DD and the factors likely to influence their physical activity participation. Early intervention programs promoting physical literacy could be promising avenues to support lifelong physical activity habits for these children.

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19. Gu J, Liu Y, Shan Y, Xu H, Zhang D. Association between maternal autistic traits and children’s anxiety among Chinese preschool children in the general population: the chained mediation model of maternal meta-emotion philosophy and children’s emotional instability. Front Psychol;2026;17:1748760.

BACKGROUND: Little research has elucidated the effects of maternal autistic traits (MATs) on children’s anxiety in normal populations, and their underlying mechanisms. The present study aimed to test this relationship and the mediating role of maternal negative meta-emotional philosophy (MEP) and children’s emotional instability among Chinese people. METHODS: This study recruited 590 mother-child dyads. These mothers have no other children with autism, and they completed the Autism Spectrum Quotient, Maternal Meta-Emotion Philosophy, Emotion Regulation Checklists, and the Chinese version of the Spence Children’s Anxiety Scale. The chain mediation model was tested using SPSS software. RESULTS: (1) There are significantly positive correlations among MATs and children’s anxiety. (2) Children’s anxiety was affected by MATs through 3 different pathways: the mediating role of maternal MEP (dysfunction and noninvolvement emotional philosophy), the mediating role of children’s emotional lability, and the chain mediating role of both MEP and children’s emotional lability. CONCLUSIONS AND LIMITATIONS: This cross-sectional study demonstrates that MATs predict child anxiety through the sequential mediation of mothers’ negative MEP and children’s emotional instability. These findings deepen our understanding of the adverse effects of subclinical autistic traits within the general population. Furthermore, they suggest that early interventions for families with mothers exhibiting high autistic traits should focus not solely on the traits themselves, but on improving maternal MEP. Such a focus would help children develop adaptive emotion regulation strategies, thereby reducing the risk of anxiety. A primary limitation of this study is its cross-sectional design, which precludes causal inferences. Future longitudinal research is needed to clarify the temporal dynamics and long-term effects among these variables.

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20. Hasenpusch-Theil K, Lesayova A, Kozić Z, Beltran M, Wilson G, Henderson NC, Dando O, Theil T. ASD mutations in the ciliary gene CEP41 impact development of projection neurons and interneurons in a human cortical organoid model. Mol Psychiatry;2026 (May 4)

Primary cilia control cell-cell signalling and their dysfunction has been implicated in Autism Spectrum Disorders (ASD) but their roles in the ASD aetiology remain largely unexplored. Here, we analysed the impact of ASD mutations in CEP41 using human cortical organoids. CEP41 encodes a centrosomal protein located at the basal body and the ciliary axoneme and is mutated in ASD individuals and in Joubert syndrome, a ciliopathy with high incidence of ASD. To gain insights into CEP41’s role in ASD aetiology, we characterised human cortical organoids carrying the CEP41 R242H point mutations found in ASD individuals. This mutation did not interfere with CEP41’s ciliary localisation but cilia were shorter and had lower levels of tubulin polyglutamylation, which is indicative of altered cilia stability and signalling. Moreover, scRNAseq analyses revealed that the expression of several transcription factors with critical roles in interneuron development was altered in mutant interneurons and their progenitors. The CEP41 mutation also caused an augmented formation of upper layer cortical neurons. Taken together, these findings indicate that CEP41 controls excitatory and inhibitory neuron differentiation, alterations in which might lead to an excitation/inhibition imbalance that is widely recognized as a convergent mechanism underlying neurodevelopmental disorders.

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21. Hellings J, Zamani I, Evans M. Case Report: Suicidality response to treatment for attention deficit hyperactivity disorder in adult females with autism spectrum disorder: three cases. Front Psychiatry;2026;17:1767199.

BACKGROUND: Suicidality, suicide attempts and non-suicidal self-injury occur more frequently in untreated attention deficit hyperactivity disorder (ADHD), and in females with autism spectrum disorder (ASD), especially in late adolescence and young adulthood. Diagnosis and treatment of the comorbid ADHD may rapidly improve coping skills, reducing impulsivity and suicidality. METHODS: We obtained IRB approval and written consent to publish the de-identified cases of three young adult females with recurrent suicidality and serious mental illness. Each met DSM-based diagnostic criteria for ASD and ADHD, but received no ADHD treatments on presentation. Presentations, treatment, side effects and precautions are discussed. RESULTS: Each responded remarkably to ADHD treatments, but with notable side effects especially in one case. Addition of ADHD medications led to rapid improvements in mood, suicidality and self-reported use of coping skills, enabling taper of antidepressants and antipsychotics. CONCLUSIONS: ADHD diagnosis and treatment may rapidly improve treatment-resistant suicidality and mood, by improving executive functions, impulse control and use of coping skills; larger-scale studies are indicated to elaborate on our findings in these three cases. ASD and comorbid ADHD are important predisposing factors to suicidality that are commonly missed. ADHD treatment may provide remarkable response, described by patients as enabling greater functioning, confidence and use of coping skills when under stress. Suicidality assessment should include screenings for ADHD and ASD, especially in atypical cases. Prior maltreatment, executive dysfunction and impulsivity in females all raise suicide risks.

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22. Kim DW, Boonpraman N, Kuhn NC, Sammi SR. Loss of autism-associated gene wac alters social behavior and identifies cho-1 as a modulator of cholinergic signaling in C. elegans. bioRxiv;2026 (Apr 21)

WAC is an autism-associated gene involved in neurodevelopment. However, the effects of reduced WAC function on behavior and synaptic regulation in vivo remain unclear. Taking cues from the previous studies on the wac gene and the C. elegans model of ASD, we elucidated the effects of wac gene deletion on food-leaving behavior, a known parameter linked to ASD associated genes along with the cholinergic pathway. wac -deficient worms exhibited curtailed food-leaving behavior. Notably, observed phenotype was similar to that exhibited by nematodes with mutation in ASD related gene, neuroligin. In addition, wac -deficient worms showed impaired growth, reduced pharyngeal pumping, and lifespan. To examine potential synaptic mechanisms, we analyzed expression of genes related to cholinergic signaling across all developmental stages (L1-L4) through young adult (YA). Stage-specific transcriptional changes were observed, with increased expression of ace-1 and acr-3 at L1, acr-3 at L3, and acr-3, cha-1, lev-1 , and lev-10 at L4. The transcriptomic alteration was most prominent at YA stage, exhibiting upregulation of ace-1, cha-1, cho-1, lev-1, lev-10, unc-17, unc-29, unc-38 , and unc-50 . To identify specific suppressor of upmodulated Ach signaling, RNAi of the upregulated genes was performed. cho-1 was identified as a specific suppressor of elevated Ach signaling. cho-1 encodes a high-affinity choline transporter responsible for choline uptake in the pre-synapse. These studies identify the molecular mechanisms pertaining to up-modulation of cholinergic signaling in wac mutant worms.

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23. Lee C, Davenport MH, Jarvis ED. A human specific CCG repeat in the RBFOX1 promoter is implicated in speech and autism. bioRxiv;2026 (Apr 24)

Human speech likely arose from regulatory changes for speech-related brain regions, yet causal variants and mechanisms remain unclear. RBFOX1 is a prime candidate, showing specialized expression in vocal learning circuits of human and zebra finch brains and carrying a promoter deletion linked to autism spectrum disorder (ASD) with language dysfunction. Here, we perform integrative analyses with cross-species brain single-cell multi-omic data and the more complete genomes of the Vertebrate Genomes Project. We identify a human-specific CCG insertion in the RBFOX1 promoter, creating a human-unique CCG-repeated motif. This motif is fixed in both archaic and modern humans but is disrupted by rare clinical variants that exhibit language-related phenotypes and autism. Binding motif models predicted, and reporter assays reveal that this human allele drives stronger EGR1 -dependent transcription than its chimpanzee allele. Genome-wide, 107 other genes have core promoters with the identical motif; enriched for postsynapse and implicated in ASD, including PTCHD1 . At the PTCHD1 promoter, an ASD-causative CCG-repeated variant enhances EGR1 -dependent promoter activity, and its activating effects are predicted in human brain regions using AlphaGenome. Our findings suggest that small variations in the number of CCG repeats in promoters can exert a large regulatory effect on complex traits and their associated disorders.

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24. Leruez-Ville M, Grevent D, Bourgon N, Chatzakis C, Parodi M, Fourgeaud J, Veyrenche N, Bahi-Buisson N, Pichon C, Magny JF, Boddaert N, Ville Y. Maternal cytomegalovirus infection in the first trimester of pregnancy: timing, fetal brain injury, and long-term neurodevelopmental outcomes including autism spectrum disorder. Am J Obstet Gynecol;2026 (May 4)

BACKGROUND: Congenital cytomegalovirus (CMV) infection is the leading non-genetic cause of sensorineural hearing loss and is associated with a broad spectrum of neurodevelopmental outcomes. A possible association between congenital CMV and autism spectrum disorder has been hypothesised for several decades, based on case reports and small retrospective studies. OBJECTIVE: The objective was to estimate the strength of the association between congenital CMV and neurodevelopmental abnormalities including autism spectrum disorder, their dependence on the timing of maternal infection, and their potential neuroanatomical correlates. STUDY DESIGN: We conducted a prospective observational cohort study including children with confirmed congenital CMV infection followed at a single tertiary referral centre in France between 2001 and 2024. Maternal CMV infections were classified and dated using centralized serological assessment. Children underwent standardized longitudinal follow-up, including audiological, neurological, behavioural, and neuroimaging evaluations, up to 48 months of age. Fetal brain MRI was available for cases diagnosed antenatally. Outcomes of interest included hearing loss, neurodevelopmental impairment, and autism spectrum disorder. RESULTS: Among 642 children with confirmed congenital CMV infection, 504 (78.5%) were exposed to a maternal primary infection with known timing. Of these, 288 (57.1%) followed first-trimester infection, 144 (28.6%) second-trimester infection, and 72 (14.3%) third-trimester infection. Long-term congenital CMV-related sequelae, including hearing loss and neurodevelopmental impairment, were observed exclusively in children exposed to first-trimester maternal primary infection. Autism spectrum disorder was diagnosed in 11 children (1.7%), all of whom were symptomatic at birth; all cases following maternal primary infection occurred after first-trimester exposure. Compared with estimates from the general French population, prevalence in children with congenital CMV was 4-fold higher (odds ratio 4.25, 95% CI 1.63-21.33). In all children diagnosed with autism spectrum disorder, temporal lobe white matter abnormalities, especially in the temporal poles, were identified on postnatal MRI and were present on antenatal imaging in fetuses who underwent prenatal MRI. The review of all fetal MRIs from the prenatally diagnosed subgroup, temporal lobe white matter abnormalities were present in a minority of cases and no child without temporal lobe abnormality developed autism spectrum disorder. CONCLUSIONS: In this large prospective cohort, adverse long-term outcomes following maternal primary infection were observed only after first trimester exposure. Autism spectrum disorder occurred exclusively in this group and was consistently associated with temporal lobe white matter abnormalities. These findings support a time-restricted window of fetal vulnerability to CMV-related brain injury and suggest that neuroimaging findings may contribute to prenatal and neonatal risk stratification and help inform prenatal and postnatal counseling.

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25. Li L, Zhang Y, Strock A, Pruthi S, Ryali S, Menon V. Temporally-resolved deep learning reveals autism symptom-specific neural signatures during naturalistic social experiences. Res Sq;2026 (Apr 22)

Autism diagnosis lacks objective context-specific neurobiological markers, as traditional structural and resting-state neuroimaging fails to capture the dynamic social-cognitive processing differences that define the condition. We developed DualPathNet, an interpretable dual-stream deep learning network that simultaneously captures stable trait-like patterns and transient event-specific neural responses during naturalistic movie viewing. Across 555 children (274 ASD, 281 controls), our framework achieved > 70% accuracy using only 2-3 minutes of emotionally challenging stimuli, substantially outperforming 63% resting-state scans. Explainable AI with DualPathNet revealed that autism-related neural signatures were selectively expressed during high-demand social-emotional moments requiring empathy and emotion regulation, rather than uniformly expressed across all contexts. Critically, temporally specific neural responses during emotionally salient events predicted core autism symptoms including repetitive behaviors and social deficits. Our neuro-AI approach demonstrates that autism involves dynamic, context-dependent neural vulnerabilities rather than static disruptions, providing interpretable biomarkers for precision diagnosis and targeted intervention.

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26. López-Resa P, Skafle I, Rebecchi K, Kalandadze T, Nordahl-Hansen A, Gabarrón E. Discursive constructions of autism on social media: a multilingual analysis across five languages. Front Psychol;2026;17:1769965.

INTRODUCTION: Language choices in autism-related social media discourse reflect ideological models and shape public understanding. Although neuroaffirmative and identity-first language is increasingly visible, cross-linguistic patterns on social media remain poorly understood. These platforms provide a valuable setting to observe how autistic identity and competing medical and neuroaffirmative frameworks circulate internationally. METHODS: This observational multilingual study analyzed 678 public posts collected through stratified keyword sampling in English, Spanish, French, Norwegian, and Georgian. Posts were normalized, anonymized, and classified using multilingual lexicons and sentence-embedding-assisted disambiguation. Variables included theoretical frame (medical, neuroaffirmative, both, neutral), linguistic style (identity-first, person-first), sentiment (-5 to +5), and engagement metrics. Descriptive statistics and longitudinal trend analyses were conducted. RESULTS: Medical and neuroaffirmative discourse coexisted across languages. Spanish showed the highest medical framing (45.1%), while English (43.4%) and French (36.4%) favored neuroaffirmative discourse; Norwegian and Georgian leaned neutral. Identity-first language predominated overall, with person-first usage most frequent in Norwegian and minimal in Georgian. Sentiment was largely neutral. Engagement varied by language, with identity-first posts generating the highest interaction in English. Neuroaffirmative discourse increased across all languages after 2023. DISCUSSION: Autism discourse on X/Twitter reflects a global but uneven shift toward neuroaffirmative and identity-first language shaped by linguistic and cultural context, positioning social media as a key arena for renegotiating autistic identity and expertise.

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27. Lu Y, Guo W, Zou Y, Wei A, Xu J. Research Trends and Emerging Directions in Non-Pharmacological Interventions for Autism Spectrum Disorder: A Bibliometric Analysis (2001-2025). Healthcare (Basel);2026 (Apr 21);14(8)

Background: Autism Spectrum Disorder (ASD) is a heterogeneous neurodevelopmental condition for which non-pharmacological interventions remain the primary therapeutic approach. Although research output in this field has increased substantially, a comprehensive synthesis of its developmental trajectory and emerging directions is still lacking. Methods: We conducted a bibliometric analysis of publications on non-pharmacological interventions for ASD indexed in the Web of Science Core Collection between 2001 and 2025. Knowledge structures, research hotspots, and temporal trends were visualized and analyzed using CiteSpace. Results: The field has transitioned from an early focus on behavioral interventions in children to a diversified and interdisciplinary research ecosystem spanning the lifespan. Recent growth has been driven by the integration of neuroscience-based approaches, particularly neuromodulation techniques, alongside continued refinement of behavioral, sensorimotor, and complementary therapies. Increasing attention has been paid to individual heterogeneity, methodological rigor, and mechanism-oriented research. Current frontiers emphasize multimodal intervention strategies, neural plasticity-based mechanisms, and the development of personalized precision intervention frameworks. Conclusions: This bibliometric analysis delineates the intellectual evolution of non-pharmacological intervention research for ASD and identifies key research gaps, particularly the need for longitudinal and pragmatic studies targeting individualized treatment response. The findings provide an evidence-informed overview of current concepts and emerging research directions in non-pharmacological care for ASD, with important implications for future clinical research, intervention design, and strategic research planning.

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28. McLean KJ, Carey ME, Cooper D, Lyall K, Mandell DS, Shea LL. High School Exiting Among Autistic Students: A National Analysis of Special Education Data from 2015 to 2019. Behav Sci (Basel);2026 (Apr 9);16(4)

The Individuals with Disabilities Education Act (IDEA) provides special education services to students with disabilities, including autistic students, until age 21. However, the ages at which autistic students exit high school-and the reasons for exit-are not well documented, despite their importance for transition planning. We analyzed U.S. Department of Education Section 618 Part B data for special education students ages 14-21 across five school years (2014-2015 to 2018-2019) to examine exit age and exit category, with comparisons among autistic students, students with intellectual disabilities (IDs), and students with other disabilities. Using publicly reported counts of students exiting at each age, we derived mean exit ages by transforming age-specific count data. In 2019, 71% of autistic students graduated with a diploma, compared with 48% of students with IDs and 72.5% of students with other disabilities. Autistic students had lower dropout rates (6-8%) than students with other disabilities (15-18%). The mean exit age for autistic students was approximately 18 years, with an average graduation age of 17.9 years, indicating that many students exited prior to the end of extended IDEA eligibility in their state. These findings provide descriptive context on when autistic students exit high school relative to IDEA eligibility and underscore the importance of transition planning and coordination with adult service systems, though these factors were not directly examined in the present analysis.

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29. Meduri A, Marraffa C, Roccaforte G, Chilà P, Failla C, Gugliotta G, Pioggia G, Marino F. Engagement, motivation, or sustained attention? Rethinking the effects of technology in autism. Front Digit Health;2026;8:1802286.

Technology-based interventions for Autism Spectrum Disorder (ASD) are frequently justified on the grounds that digital tools « increase engagement » and « enhance motivation. » However, across domains such as robot-assisted therapy, immersive environments (virtual and augmented reality), and ICT-based educational applications, outcomes labeled as engagement are often derived from observable indicators including gaze, time-on-task, interaction duration, task adherence, or reduced off-task behavior. While informative, these measures may primarily index sustained attention and, when considered in isolation, do not provide sufficient evidence to support inferences about intentional involvement or intrinsic motivation. In this Perspective paper, we argue that part of the literature implicitly equates increased on-task behavior with increased engagement, despite engagement and motivation being inferential constructs that require clearer operationalization. We first clarify conceptual distinctions between engagement, motivation, and sustained attention, highlighting how overlapping behavioral indicators can lead to interpretative ambiguity. We then summarize a recurring evidence pattern showing that technology-related outcomes are most consistently captured through markers of attentional stability during task performance. Finally, we propose an alternative interpretation: technology may function as a context that supports sustained attention in ASD by leveraging predictable structure, sensory coherence, repetition, and immediate feedback, and in some cases by aligning with restricted interests while the indicators most commonly reported are insufficient to determine whether motivation or deeper forms of engagement have increased. We conclude that improving conceptual precision and measurement practices is essential to interpret intervention outcomes accurately and to identify which technological components modulate attention, motivation, and active participation in autistic individuals.

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30. Muthuka JK, Onyango C, Nzioki JM, Chebungei LK, Zimunya R, Simengwa A, Kim S, Nshimirimana DA, Nabaweesi R. Global Autism Spectrum Disorder Prevalence Estimates and Associated Covariates: A Systematic Review and Meta-Regression Analysis. Cureus;2026 (Apr);18(4):e106260.

This review aimed to estimate the global prevalence of autism spectrum disorder (ASD) and identify methodological and contextual covariates influencing prevalence estimates. Despite increasing research, the true global burden of ASD remains unclear due to substantial variability in reported prevalence across studies. The specific methodological and contextual factors driving this heterogeneity have not been fully quantified. Electronic databases, including PubMed, Scopus, Web of Science, Embase, and Google Scholar, were systematically searched from 2004 to 2025. All human population-based studies were included, irrespective of region or diagnostic framework. Nineteen studies, comprising approximately 20.6 million participants, met the inclusion criteria and reported ASD prevalence. To estimate pooled prevalence, a random-effects model (REML) was used, and Bayesian hierarchical modeling was conducted to provide posterior estimates. Publication bias and sensitivity analyses were conducted, followed by meta-regression to account for covariates such as diagnostic framework, study setting, and region. The frequentist pooled prevalence of ASD was 0.8% (95% CI: 0.4%-1.7%), with substantial heterogeneity (I² ≈ 100%) and a wide prediction interval (0.03%-17.3%). Bayesian hierarchical modeling produced a posterior mean prevalence of 1.55% (95% CrI: 0.75%-4.1%), and a Bayesian sensitivity analysis excluding an extreme outlier study yielded a posterior mean prevalence of 0.9% (95% CrI: 0.6%-1.8%) with substantial heterogeneity (τ = 1.14, I² = 99.98%) and a prediction interval of 0.09%-9.5%, indicating strong consistency between frequentist and Bayesian estimates. Regional prevalence varied: North America (1.9%), Africa (6.3%) (wide confidence intervals reflecting limited data), Europe (0.4%), Latin America (0.2%), and the Middle East (0.6%). Meta-regression analysis demonstrated that ASD prevalence was influenced by diagnostic framework, study setting, and region (R² ≈ 0.78), and the combined impact of all covariates explained a substantial proportion of the variance in effect sizes. Our updated meta-analysis indicated that global ASD prevalence varies widely across regions, largely due to methodological and contextual differences rather than demographics alone. Standardized diagnostic practices, enhanced surveillance, and targeted investment in underrepresented regions are critical for improving the accuracy and comparability of prevalence estimates. This updated synthesis provides a more robust and context-sensitive estimate of global ASD prevalence and supports the interpretation of variability observed in prior studies.

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31. Nakamura H, Tateyama K, Nakaoka K, Kato T. Sensory Integration Therapy for Preschool Children with Autism Spectrum Disorder and Co-Occurring Intellectual Disability: An Exploratory Single-Group Pre-Post Study. Children (Basel);2026 (Apr 20);13(4)

Background: Occupational therapists often provide sensory integration therapy (SIT) as part of interventions for children with autism spectrum disorder (ASD). However, evidence supporting its effectiveness remains limited. Therefore, this study aimed to explore the potential benefits of once-weekly SIT for children with ASD and co-occurring intellectual disability. Methods: A non-blinded single-group pre-post study was conducted using SIT once a week for 8 weeks. Participants were children aged 2-6 years who had been diagnosed with ASD, had a developmental index score of ≤70, and were classified as having severe autism according to the Childhood Autism Rating Scale. Outcome measures included the Goal Attainment Scaling (GAS), Vineland Adaptive Behavior Scales, Second Edition (VABS-II), Short Sensory Profile (SSP), and Parenting Stress Index, Short Form (PSI-SF). Data were analyzed using the Wilcoxon signed-rank test to compare pre- and post-intervention results. Results: Ten children completed the full intervention protocol. Changes were observed in some domains of the GAS and VABS-II; however, these findings were characterized by substantial uncertainty and considerable variability across participants. In contrast, no apparent changes were observed in the SSP or PSI-SF. Conclusions: The findings of this study do not support the effectiveness of sensory integration therapy (SIT) and should not be interpreted as evidence of intervention-related benefit. Rather, the results should be considered as exploratory observations obtained under real-world clinical conditions. Future research employing more rigorous designs, including the use of control groups, larger sample sizes, and blinded assessments, is required.

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32. Nascimento CM, Pires S. [Valproate‑Associated Acute Pancreatitis in a Child with Autism Spectrum Disorder]. Acta Med Port;2026 (May 4);39(5):377-378.

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33. Oommen AM, Morel M, Cunningham S, Seoighe C, Joshi L. An Integrative Network Analysis Framework for Identifying Altered Glycosylation Pathways Associated with Autism Spectrum Disorder. Genes (Basel);2026 (Apr 19);17(4)

Background: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition marked by heterogeneous behavioral symptoms and systemic comorbidities, including immune and gastrointestinal dysfunctions. Emerging studies suggest that glycosylation-a fundamental post-translational modification regulating cellular communication and immune responses-may play a role in ASD pathophysiology, yet its contribution remains underexplored. Methods: In this study, we developed an integrative transcriptomic and network analysis framework to investigate glycosylation-related gene expression changes and their functional associations in ASD. Using publicly available datasets from bulk and single-cell RNA sequencing of brain and blood tissues, we focused on four prior-knowledge gene subsets: glycogenes, extracellular matrix glycoproteins, immune response genes, and autism risk genes. Results: Differential expression and pathway enrichment analyses revealed consistent dysregulation of glycosylation pathways, including mucin-type O-glycan biosynthesis, glycosaminoglycan metabolism, GPI-anchor formation, and sialylation, across ASD tissues. These transcriptional changes were functionally linked to altered immune signaling (e.g., IL-17, Toll-like receptor, and complement pathways) and synaptic development pathways, forming a distinct glyco-immune axis. Network analysis identified key glycogenes such as GALNT10, NEU1, LMAN2L, and CHST1 as central molecular nodes, interacting with immune and neuronal regulators. Linkage disequilibrium analysis further revealed ASD-associated SNPs influencing the expression of these glycogenes in both blood and brain tissues. Conclusions: Together, these findings support a model in which disrupted glycosylation contributes to ASD pathophysiology by mediating immune dysregulation and altered neuronal connectivity. This study offers a systems-level framework to understand the molecular complexity of ASD and highlights glycogenes as potential biomarkers and targets for future therapeutic exploration.

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34. Powell PS, Cronin-Golomb LM, Wiggins LD, Alexander A, Reyes NM, Nadler C, Wise E, Durkin MS, Thompson-Paul A, Maenner M. Daily Living Skill Profiles in Adolescents With Autism and Developmental Disabilities. JAMA Pediatr;2026 (May 4)

IMPORTANCE: Understanding early predictors of independent performance of daily living skills (DLS) in adolescents with autism can guide targeted interventions to promote independence and improve outcomes. OBJECTIVE: To compare DLS performance among adolescents with autism, other developmental disabilities (DD), and the general population (POP), and identify early childhood predictors of independently performed DLS acquired by adolescence. DESIGN, SETTING, AND PARTICIPANTS: This longitudinal study collected data from caregivers of adolescents 12 to 16 years old (2018-2021) with a mean follow-up of 9.7 (range, 7-12) years. The study took place at 4 US sites that surveyed caregivers of adolescents from the Study to Explore Early Development (SEED). Participants included caregivers of adolescents who participated in SEED at ages 2 to 5 years. Analyses were conducted June to August 2025. EXPOSURE: Adolescents who met diagnostic criteria for autism at ages 2 to 5 years. MAIN OUTCOMES AND MEASURES: The primary outcome was independent DLS in adolescence measured with the Waisman Activities of Daily Living scale. Other measures included early learning abilities, social symptoms, emotional functioning, and intellectual disability (ID) in adolescence. Model-based recursive partitioning identified early childhood predictors of independent DLS acquired by adolescence. RESULTS: The analytic sample included 852 caregivers of adolescents (median age, 14.7 years; 533 male [63%] and 319 female [37%]): 204 with autism, 341 with other DD, and 307 in the POP group. Adolescents with autism had lower Waisman Activities of Daily Living Scale scores (median [IQR], 24.5 [17-29]) compared with the DD (30 [IQR, 26-33]) and POP groups (32 [IQR, 30-33]) (P < .001). Compared with the DD and POP groups, adolescents with autism performed fewer DLS independently with frequency decreasing as skill complexity increased. Among adolescents with autism or other DD, those with lower expressive language and fine motor skills in early childhood acquired the fewest number of independent DLS, while those with stronger expressive language, without ID, and with fewer attention problems in early childhood acquired the greatest number of independent DLS. CONCLUSION AND RELEVANCE: In this study, DLS were lower in adolescents with autism compared with adolescents without autism. Early expressive language, fine motor skills, and attention problems predicted wide variation in the independent DLS acquired by adolescents with autism and other DD. These findings highlight potential early prognostic indicators that may help prioritize early support to improve DLS acquisition and promote greater independence.

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35. Quon AC, Miech EJ, Bishop-Royse JC, Johnson TJ, Ailey SH. Pathways to Excellent Health Status in Autism: A Secondary Analysis of the 2022 National Survey of Children’s Health. West J Nurs Res;2026 (Jun);48(6):630-640.

BACKGROUND: Health disparities in autistic people are well-documented. Less is known, however, about how health determinants intersect, including what factors make a difference, for whom, and under what conditions. Coincidence analysis (CNA) is a cross-case, mathematical approach that pinpoints minimally sufficient and necessary conditions for an outcome to appear, making it particularly well-suited to identify intersecting determinants and multiple paths to the same outcome. OBJECTIVES: Guided by the National Institute on Minority Health and Health Disparities Research Framework, the study aimed to identify difference-makers for « excellent/very good » overall health among autistic children. METHODS: The 2022 National Survey of Children’s Health contains parent-reported data about 1231 autistic children with « excellent/very good » overall health. A literature review informed the selection of 62 potentially relevant factors for analysis. CNA was applied to develop a model for explaining parents’ reporting « excellent/very good » health for their autistic children. RESULTS: Initial exploratory analyses identified 7 strongly related factors. The final model revealed a 2-pathway solution that accounted for 82% of the respondents with 80% consistency: (1) a combination of no intellectual disability, no difficulty with chronic pain, and high family resilience; or (2) a combination of no intellectual disability, no difficulty with chronic pain, and no history of being overweight. CONCLUSIONS: Combinations of health determinants accounted for differences in the reported overall health of autistic children. This nuanced explanation for « excellent/very good » health among autistic children can guide future interventions and practices aimed at modifiable determinants of health.

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36. Shao M, McNair KA, Parra G, Tam C, Sullivan N, Şentürk D, Gavornik JP, Levin AR. EEG responses to auditory stimuli are less context-dependent in preschoolers with autism spectrum disorder compared to typical development. medRxiv;2026 (Apr 25)

Individuals with autism spectrum disorder (ASD) often exhibit atypical auditory processing, yet it remains unclear whether and how the integration of simple acoustic features and contextual information is impacted in ASD. One real-world example of this integration is the auditory looming bias, the prioritized processing and perception of approaching auditory stimuli. We designed a paradigm that presents intensity-rising (looming) and intensity-falling (receding) auditory stimuli to 3-4-year-old children with ASD (n = 21), children with sensory processing concerns who do not have ASD (SPC; n = 16) and children with typical development (TD; n = 30). We recorded neural responses using electroencephalography (EEG) and found evidence of looming bias in the SPC and TD groups, as indexed by greater P1 peak amplitude during the looming than receding stimuli (TD: t(64) = 6.87, p < .001; SPC: t(64) = 4.07, p < .001). But this finding was not present in the ASD group (p = .194). Additionally, the ASD group showed reduced differentiation between looming and receding stimuli, as indicated by significantly lower Rise-Fall Difference Score (RFDS) in comparison to the TD group (Z = -3.00, p (adj) = .008). These findings suggested altered context-dependent modulation of sensory input in ASD. LAY SUMMARY: Many children with autism show differences in how they process sounds. Using sound patterns in which loudness gradually increased and decreased over time, like many real-world sounds, we found that children with autism showed less neural differentiation between increasing and decreasing sounds. This finding suggested that the brain may process changes in sound differently in autism, particularly in how it adjusts to sounds as they change over time, which could contribute to the sensory challenges many children with autism experience in daily life.

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37. Sönmez HG, Ergin M, Koçak Ç V, Bozdağ B, Kılınç Ö, Turan E, Canlı U, Aldhahi MI. The Effect of Video Modeling on Gymnastics-Based Motor Skills in Children with Autism Spectrum Disorder. Healthcare (Basel);2026 (Apr 11);14(8)

Background and Objectives: While the effectiveness of video modeling (VM) in teaching academic, daily living, and social skills to individuals with Autism Spectrum Disorder (ASD) is frequently investigated, studies examining the use of VM in teaching gymnastics-based motor skills are limited. This study aimed to examine the effects of VM on the acquisition and maintenance of a gymnastics-based motor skills in preschool children with ASD. Methods: The study employed a multiple-probe method across participants in a single-subject research design. Three preschool children diagnosed with mild ASD participated in this study. Baseline, intervention, and follow-up data were systematically collected and analyzed. Social validity data were obtained through semi-structured interviews with parents and special education teachers. Results: The percentage of correct responses increased throughout the VM intervention sessions, and all participants reached the proficiency criterion. Follow-up data collected after the intervention showed that the acquired skill was maintained, and the percentages of correct responses ranged from 80% to 100%. Social validity findings revealed that both teachers and parents perceived VM as an effective and feasible teaching approach for teaching motor skills to children with ASD. Conclusions: The research findings demonstrate that VM is an effective and socially valid teaching method for teaching and maintaining gymnastics-based motor skills in preschool children with ASD. These results contribute to the existing literature by demonstrating the applicability of video modeling in the context of gymnastics-based training.

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38. Wang L, Hua M, Hu X, Wang Y, Xie Q, Yang G, Chen Y. Daily Mindfulness and Depressive Symptoms Among Parents of Autistic Children: A Dynamic Structural Equation Modelling Study. Autism;2026 (May 4):13623613261439930.

Elevated depressive symptoms among parents of autistic children are well documented and associated with poorer mental health. Mindfulness has been identified as a protective factor against mental health difficulties, but its day-to-day associations with depressive symptoms in this population remain unclear. A total of 210 Chinese parents of autistic children participated in this 15-day diary study, during which they completed daily measures of mindfulness and depressive symptoms. The data were analysed using dynamic structural equation modelling. Results indicated that (1) parents’ daily mindfulness and depressive symptoms exhibited autoregressive stability and showed significant negative reciprocal cross-lagged associations at the within-person level. At the between-person level, (2) higher perceived social support was associated with lower mean depressive symptoms and higher mean mindfulness, and it strengthened the negative cross-lagged effect of daily mindfulness on next-day depressive symptoms; and (3) child externalising problems were positively associated with parents’ overall mean depressive symptoms and negatively associated with both parents’ overall mean daily mindfulness and the autoregressive effects of daily mindfulness and depressive symptoms. Findings underscore the importance of fostering daily mindfulness within a supportive resource context and highlight the need to maintain the day-to-day persistence of mindfulness in families of autistic children with higher externalising problems.Lay AbstractParents of autistic children tended to feel fewer depressive symptoms on the day after they felt more mindful; likewise, they tended to feel less mindful the day after they felt more depressed. We asked 210 parents in China to complete a short daily questionnaire for 15 days about their daily mindfulness and depressive symptoms. We also looked at two factors that might affect day-to-day mindfulness and depressive symptoms: the level of perceived social support and children’s challenging externalising behaviours directed towards parents. We focused on how parents’ mindfulness and depressive symptoms shift from one day to the next to identify practical ways to improve parents’ mental well-being. We found that more perceived social support was linked to a stronger next-day connection between feeling more mindful and feeling less depressed, whereas more frequent behavioural challenges were linked to more ups and downs from one day to the next in both mindfulness and mood. The findings of this work can guide researchers and practitioners to design simple, everyday actions, such as brief mindfulness moments and better support for families, that help parents feel less low from one day to the next.

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39. Wiggins LD, Tinker SC, Overwyk K, Powell P, Thompson-Paul A, Fitzgerald R, Rosenberg S, Rosenberg CR, Maenner M. Individual Profound Autism Criteria and Unmet Needs Among Autistic Adolescents and Their Caregivers. JAMA Pediatr;2026 (May 4)

This cross-sectional study describes how profound autism criteria are associated with unmet support needs of autistic adolescents and their caregivers and the anticipated need for supervised housing. eng Centers for Disease Control and Prevention (CDC) during the conduct of the study. No other disclosures were reported.

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40. Yaneva A, Levkova M, Stoyanova M, Hachmeriyan M, Angelova L, Pancheva R. Diagnostic Yield and Genotype-Phenotype Overlap in Pediatric Autism Spectrum Disorder Patients Using Whole-Exome Sequencing and Phenotype-Driven Variant Interpretation: A Single-Center Cohort Study. Children (Basel);2026 (Mar 25);13(4)

Background/Objectives: Autism spectrum disorder (ASD) is a clinically and genetically heterogeneous neurodevelopmental condition, and the diagnostic yield of whole-exome sequencing (WES) varies across settings. This single-center study aimed to determine the molecular diagnostic yield of WES in pediatric ASD and to explore genotype-phenotype overlap using a structured, phenotype-driven reanalysis strategy. Methods: We enrolled 60 children with syndromic and non-syndromic ASD, who underwent detailed clinical and dysmorphology assessment. WES for single-nucleotide and copy-number variant (CNV) detection was performed in an accredited laboratory, followed by clinician-driven reinterpretation, integrating expanded phenotypic data and ACMG/AMP-based variant classification. Genes were considered if they harbored rare, potentially pathogenic variants and were previously reported or curated in established ASD-associated gene resources. Results: The initial external laboratory report identified 5 of 60 patients (8.3%) with a pathogenic (P) or likely pathogenic (LP) variant (positive result), 30 of 60 (50.0%) with a variant of unknown significance (VUS) (inconclusive result), and 25 of 60 (41.7%) with a negative result. Clinician-based variant reinterpretation identified pathogenic or likely pathogenic variants in 9 of 60 patients (15.0%), representing an 80% relative increase in diagnostic yield, as well as 43 VUSs distributed across 34 patients, while 17 patients had no reportable variants (negative result). Overall, reanalysis revealed 11 additional variants of interest (pathogenic, likely pathogenic, or VUS) that had not been reported in the initial assessment. In total, 52 sequence and copy-number variants in 46 genes were detected, most of which were VUSs (83%). Conclusions: In this pediatric ASD cohort, WES with phenotype-driven reinterpretation and CNV assessment yielded a clinically positive result in 15% of patients and uncovered additional candidate variants, highlighting both the value and the current interpretative challenge of comprehensive genomic testing in ASD.

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41. Yang L, Chen Y, Chen M, Wang X, Liu L. Social Attention in Electronic Picture Books with Social Scenes for Children with Autism Spectrum Disorder: Insights from Eye-Tracking Studies. Behav Sci (Basel);2026 (Apr 2);16(4)

Electronic picture book free viewing can promote language comprehension ability and social cognitive abilities in children with autism by providing structured visual information. Understanding autism spectrum disorder (ASD) children’s visual attention patterns during electronic picture book free viewing can inform targeted educational research. The attentional preference of children with ASD toward electronic picture books with social scenes remains under-explored. This study aimed to understand the social attention of children with ASD during free viewing of electronic picture books with social scenes. Eye-tracking technology was used to record the visual behavior of 24 children with ASD viewing electronic picture books independently, and 25 typically developing (TD) children were selected as the control group. The results showed that children with ASD allocated less fixation time to social information in electronic picture books than TD children, with a clear difference in the fixation time spent on facial regions. Children with ASD neither displayed the same attention to happy facial expressions in electronic picture books as TD children nor did they show significant differences in attention to different emotions. These findings contribute to our understanding of visual attention patterns in children with ASD during electronic picture book free viewing and provide empirical evidence for future research on optimizing visual viewing guidance for children with ASD.

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42. Zafarullah M, Ponzini M, Kim K, Hagerman PJ, Hagerman RJ, Tassone F. Integrated multi-omics profiling reveals novel molecular biomarkers and pathways associated with Fragile X-associated tremor/ataxia syndrome. Front Mol Neurosci;2026;19:1752903.

INTRODUCTION: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder affecting carriers of premutation expansions (55-200 CGG repeats) in the fragile X messenger ribonucleoprotein 1 (FMR1) gene. Despite its clinical significance, FXTAS currently lacks reliable molecular markers for disease monitoring and evaluation of therapeutic efficacy. METHODS: To address this critical gap, we performed an integrated multi-omics study combining plasma metabolomics (lipidomics, amine, and primary metabolites) with proteomics analyses in plasma and peripheral blood mononuclear cells (PBMCs) from FXTAS participants (n = 5, FXTAS stages 3-5) and age-matched non-carrier healthy controls (HC, n = 15). RESULTS: Integrated analyses revealed molecular differences distinguishing FXTAS from HC, including alterations in metabolites related to energy metabolism (e.g., UDP-glucuronic acid, succinic acid, mannose), lipids (e.g., cholesterol, triglycerides, glycerophospholipids, ceramide), and selected amines (e.g., cystine, glycerophosphocholine, histidine). Proteomic analyses identified proteins associated with FXTAS clinical stage and CGG repeat size, implicating pathways related to mitochondrial function, immune-inflammatory signaling, and lipid metabolism. Comparative analysis of plasma and PBMC proteomes identified Basigin (CD147) and phospholipid transfer protein C2CD2 as overlapping candidate markers across biological matrices. DISCUSSION: Although limited by sample size and the cross-sectional design, this exploratory study demonstrates the value of integrated, cross-matrix multi-omics profiling for identifying molecular patterns associated with advanced FXTAS. These findings reinforce prior mechanistic models and provide a foundation for future validation in larger, longitudinal cohorts.

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43. Zhang X, Gong M, Chen Z, Luo J, Zhao Z, Wu Z, Zhao J, Ma Y, Nie L, Fan X. Rescuing prefrontal cortical excitation-inhibition imbalance with early-life microglial ablation ameliorates ASD-like behaviors in male BTBR mice. Brain Behav Immun;2026 (May 1);136:106794.

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by deficits in social communication and interaction, alongside the presence of restricted and repetitive behaviors. Microglia, the resident immune cells of the central nervous system, play a crucial role in the development of ASD by regulating synaptic development and plasticity. In this study, we investigate the pharmacological effects and underlying cellular mechanisms of PLX3397 (PLX), a selective inhibitor of the colony-stimulating factor 1 receptor (CSF1R), for the pharmacological ablation of microglia in the context of ASD treatment. Our findings indicate that early postnatal treatment with PLX can enhance social abilities and reciprocal social behaviors while reducing repetitive and stereotyped autism-like behaviors, such as excessive grooming and marble burying. RNA sequencing analysis demonstrated that the neuroprotective effects of PLX are associated with reduced glutamatergic synaptic activity. This is further supported by the observation that PLX decreased vesicular glutamate transporter 1 (vGLUT1) expression, a marker of excitatory presynapses in the medial prefrontal cortex (mPFC). Additionally, we observed a reduction in dendritic spines and inhibition of excitatory synaptic transmission in the pyramidal neurons of the BTBR T + Itpr3tf/J (BTBR) mouse mPFC following early postnatal microglial depletion. Our findings highlight the therapeutic potential of PLX and provide valuable insights into the role of glutamatergic synapses in ASD.

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44. Zheng M, Wei X, Chen R, Wang C, Xin L. The Gut Microbiota and Autism Spectrum Disorder: Current Research and Therapeutic Insights. Behav Sci (Basel);2026 (Apr 8);16(4)

Autism Spectrum Disorder (ASD) is a collective term for neurodevelopmental disorders with core features of social communication impairment, restricted and repetitive behaviors, and narrow interests. These include classic autism, Asperger’s syndrome, and pervasive developmental disorder not otherwise specified. ASD is currently managed with behavioral interventions, rehabilitation training, and family support, but there is no curative medication. Recent studies suggest that some patients with ASD may experience gastrointestinal symptoms. Perhaps this is associated with the disturbances of gut microbiota. Increasing evidence has demonstrated that the composition of gut microbiota in ASD individuals is different from that in normal population and may be associated with neurodevelopmental processes via the gut-brain axis. This article reviews the evidence for the association between gut microbiota and ASD, describes the characteristics of microbial changes, and analyzes the mechanism by which changes in the composition of the microbiota affect the occurrence and development of ASD. Finally, we review recent advances in microbiota-targeted therapeutic strategies, including probiotics, prebiotics, and fecal microbiota transplantation, which provide new approaches to alleviate and improve autism-related symptoms and point out the future research direction.

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