1. Abdullah A, Liu X, Murari K, Yan J, Cheng N. Early developmental characterization of gap-induced prepulse inhibition and habituation of auditory startle response in a Fragile X Syndrome mouse model. Dev Neurosci. 2026: 1.

INTRODUCTION: Atypical sensory processing, particularly auditory hypersensitivity, is a common and debilitating phenotype of Fragile X Syndrome (FXS). Electrophysiology studies in the FMR1-knockout (KO) mice previously observed hyperexcitability at the auditory cortex (AC), with enhanced neuronal firing to auditory stimuli. Prepulse inhibition (PPI), a behavioral measure of sensorimotor gating, is robustly impaired in FXS individuals. Interestingly, a related paradigm called gap-induced inhibition of the acoustic startle (GPIAS) is mediated by the AC, and a previous study observed decreased GPIAS in mature FMR1-KO mice. Further, habituation is also an important sensory filtering mechanism, which has been reported to be impaired in mature FMR1-KO mice. However, not much is known about GPIAS and habituation in the FMR1-KO mice during early development. METHODS: We evaluated GPIAS in male and female FMR1-KO mice at post-natal days 15 (P15), 20 (P20) and 30 (P30). The paradigm consisted of a prepulse stimulus (gap in continuous background noise) followed by a startle stimulus, at inter-stimulus intervals of 50 and 100 ms. Habituation was assessed prior to the GPIAS trials, with a series of startle only stimulus. RESULTS: We observed a trend for genotype difference in acoustic startle response (ASR) magnitude, particularly in the female mice at P30. No significant genotype differences were noted in GPIAS or latency of ASR. Response duration was significantly increased in the male FMR1-KO mice compared to their WT counterparts during early development. Significant genotype differences were also observed in habituation and sensitization. In terms of development, we observed a significant increase in GPIAS with maturation. Furthermore, we also observed significant changes in the magnitude, response latency and duration of ASR with maturation. Finally, significant sex differences were observed in ASR magnitude and duration. CONCLUSION: Our findings suggest that behavioral responses to auditory stimuli are dynamic during development and differ between females and males. This is an important consideration for future study designs and highlights the need for mechanistic studies to further understand the development- and sex-related differences. Additionally, the FMR1-KO mice display habituation deficits during early development, which could be an ideal window for addressing auditory hypersensitivity in FXS.

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2. Almalki ZM, Batawi AH, Almuhammadi A, Alowaidi SA, Almasoudi SH, Alamri J, Al-Thepyani MA. Protective Effects of Prenatal Bacopa monnieri Extract Against Valproic Acid-Induced Autism-like Behavioral and Neurohistological Alterations in Mice. Molecules. 2026; 31(16).

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by impaired social communication and repetitive behaviors. Oxidative stress is increasingly recognized as a key contributor to the neuro-degeneration and behavioral abnormalities associated with ASD. Bacopa monnieri (BM), a medicinal herb with potent antioxidant and neuro-protective properties, has shown promise in mitigating oxidative damage. This study evaluated the preventive effects of BM extract on behavioral and neuro-histological alterations in a valproic acid (VPA)-induced mouse model of ASD. Pregnant mice received BM extract (400 mg/kg, orally) throughout gestation, while VPA (600 mg/kg) was administered intraperitoneally on embryonic day 12 (E12). Behavioral assessments included the open field test, righting reflex, three-chamber social interaction, marble burying, and hot plate tests. Oxidative stress markers, malondialdehyde (MDA) and glutathione (GSH), were quantified in hippocampal and cerebellar tissues. BM-treated offspring showed significant behavioral improvements, including reduced hyperactivity in the open field test (p < 0.0001), along with restored brain tissue architecture. Moreover, BM extract decreased MDA levels and elevated GSH concentrations, indicating attenuation of oxidative stress. In conclusion, Bacopa monnieri extract exerts protective effects against autism-like symptoms by enhancing antioxidant defenses and preserving neural integrity, suggesting its potential as a natural preventive strategy for ASD.

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3. Aviel U, Kababw-Florentin A, Abu Diab M, Drier Y, Epsztejn-Litman S, Eiges R. SMCHD1 Is Dispensable for Repeat-Induced FMR1 Hypermethylation in Fragile X Pluripotent Stem Cells. Int J Mol Sci. 2026; 27(16).

Fragile X syndrome (FRAX) is caused by CGG repeat expansion in the FMR1 gene, which triggers aberrant DNA hypermethylation, chromatin condensation, and transcriptional gene silencing. However, the mechanism that underlies this repeat-induced epigenetic defect remains poorly understood. SMCHD1 is a chromatin regulator that promotes de novo DNA methylation and heterochromatin formation at long repetitive elements, including the D4Z4 macrosatellite repeat implicated in facioscapulohumeral muscular dystrophy (FSHD). Given the mechanistic parallels between FSHD and FRAX, we hypothesized that SMCHD1 contributes to repeat-induced FMR1 hypermethylation. To test this, we disrupted SMCHD1 in an XY FRAX human embryonic stem cell (hESC) line carrying a heavily methylated CGG-expanded FMR1 allele. Despite efficient loss of SMCHD1, FMR1 hypermethylation remained unchanged, indicating that SMCHD1 is dispensable for FMR1 gene silencing. We next combined SMCHD1 knockout with CRISPR-mediated CGG repeat contraction to determine whether removal of the pathogenic mutation could restore the aberrant methylation. Nevertheless, FMR1 hypermethylation was preserved in all edited clones. These findings demonstrate that, unlike D4Z4 silencing in FSHD, FMR1 repeat-induced hypermethylation does not depend on SMCHD1 activity. Moreover, correction of the underlying CGG expansion through repeat contraction is insufficient to restore the normal hypomethylated state of the FMR1 locus in pluripotent stem cells.

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4. Blanchette F. Overstimulated in the Emergency Room: A Parental Perspective on Improving Pediatric Hospital Care for Non-Speaking Children With Autism. J Patient Exp. 2026; 13: 23743735261485811.

This patient perspective article presents practical recommendations, rooted in social psychological research, for pediatric emergency room and hospital care. The perspective is based upon the experience of a parent to a child with autism who is non-speaking and has required recurrent hospital care. The perspective highlights systemic challenges facing non-speaking autistic children and their families in hospital care contexts, including challenges in handoff communication and information transfer requiring repeated disclosure, as well as advocacy fatigue and dysregulating care environments. Recommendations for supporting non-speaking autistic children – likely to extend to others with sensory or communication challenges – are proposed, including developing sensory-friendly spaces, identifying ways to signal communication needs, provider training provisions, and suggestions for inclusive language.

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5. Boyle J, Dakopolos A, Surgent O, Lee JK, Andrews DS, Heath B, Smucny J, Solomon M, Rogers SJ, Nordahl CW. Predictors of Change in Severity of Self-Injurious Behaviors in Preschool-Aged Autistic Children. Autism Res. 2026: e70350.

Self-injurious behaviors (SIBs) affect up to 50% of autistic individuals and significantly impact quality of life and everyday functioning. Cross-sectional studies link the presence of SIB to lower IQ, altered sensory responsivity, and poor emotion regulation, yet their effect on changes in SIB severity from early childhood to school age in autism remains poorly understood. We examined SIBs in 325 autistic children assessed at age 2-5 years (T1) and 161 autistic children at 4-9 years (T3). This included a subset of 122 autistic children evaluated longitudinally at both time points. SIBs were classified into subgroups based on severity of SIB (no-SIB, mild, moderate, severe). We assessed cognitive ability, dysregulation, and sensory features at each time point. Cross-sectional and longitudinal analyses were used to examine group differences. At T1, 74% of the sample were characterized as having mild, moderate, or severe SIB. At T3, 67% had mild, moderate, or severe SIB. There was substantial variability in SIB severity subgroup membership across time; however, only 9% did not have SIBs at either timepoint. At both timepoints, children with more severe SIBs had increased dysregulation (p < 0.001) and sensory features (p < 0.001), but differences in developmental/intellectual quotient (DQ/IQ) emerged only at T3. Longitudinally, improvement in sensory features (p = 0.026) and higher T3 IQ (p = 0.039) significantly raised odds of decreasing SIB severity. Of the baseline measures of sensory features, dysregulation, DQ, and SIB severity, higher baseline SIB severity was the only predictor of increasing SIB severity. SIBs are highly prevalent in preschool-aged autistic children. Sensory responsivity and dysregulation predict severity of SIBs, and reductions in sensory features may lead to decreased SIB severity across time.

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6. Brucker DL, Calloway E, Kim HJ, Stott G. Complex Food Insecurity Context Experienced by Households That Include People with Intellectual and Developmental Disabilities in the United States. Intellect Dev Disabil. 2026: 1-15.

Food security among adults with intellectual and developmental disabilities (IDD) and households that include a person with IDD is an understudied area. We conducted in-depth interviews with 22 low-income food insecure adults with IDD and family members of children with IDD who resided in the U.S. during late 2024 and early 2025 to develop a thorough understanding of their household food security context The four members of the research team used a rapid deductive approach to code the interview transcripts. Coding agreement was assured by having all four members code a small set of initial interviews and refining the codebook until coding agreement was moderate or strong among all coders. Each coder then conducted independent coding on a set of interviews. The study results show that low-income households that include a person with IDD often struggle to access the food necessary for their households due to a complex interaction of dietary requirements, economic factors, food acquisition challenges, limitations in the ability to prepare healthy foods, and barriers to accessing public and community-based nutrition assistance programs. To improve food security for low-income households that include a person with IDD will therefore require strategies that go beyond traditional approaches of providing in-kind assistance to purchase food or free food to consider what changes to environmental factors or policies and practices are needed.

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7. Cakar ME, Cummings KK, Bookheimer SY, Dapretto M, Green SA. Atypical Cerebellar Responses are Associated with Altered Neural Habituation during Sensory Stimulation in Autism. Autism Res. 2026: e70313.

Sensory processing atypicalities are highly prevalent in autistic youth; yet, the neural mechanisms underlying these differences are not well understood. While the cerebellum plays a key role in sensorimotor coordination and is structurally and functionally atypical in the autistic brain, it has been overlooked in research investigating sensory challenges in autism. Previous evidence has linked sensory over-responsivity in autism to altered neural habituation in sensory and limbic regions, but the role of the cerebellum in atypical habituation is as yet unknown. In the current study, we investigated sensory-evoked cerebellar responses in autistic and typically-developing (TD) youth, and how these responses related to sensory-limbic habituation. Fifty-two autistic and 41 TD participants aged 8-18 years underwent fMRI during mildly aversive auditory and tactile stimulation. We found increased activity in the contralateral (to the tactile stimulation) cerebellum in ASD compared to TD. Greater cerebellar activity was associated with more habituation in sensory-limbic regions for TD youth. In contrast, stronger activity in lobule VII (including crus I and II) was associated with less amygdala habituation in ASD. There were no diagnostic group differences in the relationship between cerebellar activation and habituation in sensory cortices. Results inform understanding of the role of the cerebellum in processing aversive sensory information and, taken together, findings of hyper-active cerebellar responses as well as an atypical relationship between cerebellar function and amygdala habituation suggest cerebellar involvement in sensory alterations in autism.

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8. Cervantes PE, Gibbons RD, Becker CB, Cohen Y, Horwitz SM. Assessing Psychiatric Symptoms in Autistic Youth Using the K-CAT(®). J Autism Dev Disord. 2026.

PURPOSE: While highly prevalent, mental health (MH) challenges in autistic youth often go unrecognized due in part to the lack of an accurate, comprehensive MH assessment tool. The K-CAT(®) was developed to address barriers to identification of MH concerns in the general population offering efficient electronic measurement of up to nine MH domains. While several features support its use with autistic youth, the K-CAT(®) has neither been extensively used nor studied with this population. Therefore, this study evaluated how the K-CAT(®) performed with autistic youth with varying presentations. METHODS: One hundred fifty-five 7-to-17-year-old autistic youth without intellectual disability and their caregivers completed the K-CAT(®) and several additional measures remotely. Data on K-CAT(®) administration and results were analyzed and compared across relevant clinical characteristics, including age, language level, and autism severity. RESULTS: The K-CAT(®) identified a range of MH concerns, and prevalence estimates aligned with previous research. However, K-CAT(®) completion appeared more difficult for younger participants and for autistic youth with lower receptive language scores. Several K-CAT(®) Child Version scores were significantly associated with receptive language level whereas all K-CAT(®) Parent Version scores were associated with autism severity estimates. While K-CAT(®) results were highly correlated with existing measures, parent-child agreement was relatively low and variable across subgroups of autistic youth. CONCLUSIONS: Results may signal challenges with using the existing K-CAT(®) to assess autistic youth. K-CAT(®) adaptations are likely necessary to improve accessibility, linguistic clarity, and diagnostic specificity and will be important to promote scalable, equitable MH screening for autistic youth.

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9. Chauhan A, Wilson H, Day P, Gray-Burrows K, Leadbitter K, Baker S, Mashman Z, Pickles N, Vinall-Collier K. The Barriers and Facilitators Influencing Oral Health Behaviours of Families of Autistic Children: A Scoping Review. Community Dent Oral Epidemiol. 2026.

OBJECTIVES: To identify barriers and facilitators to home-based oral health behaviours in families of autistic children, using the Theoretical Domains Framework (TDF) and Capability, Opportunity, Motivation-Behaviour (COM-B) model. METHODS: A scoping review was conducted using Joanna Briggs Institute methodology and PRISMA-ScR guidelines. Seven databases were searched up to March 2024. Eligible studies focused on parental views of oral health behaviours (toothbrushing and sugar reduction) for autistic children up to 18 years. Data were charted and mapped to the COM-B model and the Theoretical Domains Framework (TDF). RESULTS: Seventeen studies were included across various countries including the USA, Hong Kong and Saudi Arabia. A total of 93 barriers and 81 facilitators were identified. Most identified influences related to the COM-B ‘Opportunity’ domain. Key domains were ‘Environmental Context and Resources’, ‘Skills’, ‘Emotion’, ‘Social Influences’, and ‘Reinforcement’. Common barriers included sensory sensitivities, emotional strain, and skill challenges. Facilitators included environmental adaptations, support from professionals, and routine-building. Dietary behaviours related to reducing sugary foods and drinks were rarely explored. Some behavioural domains (e.g., identity, optimism) were not represented. CONCLUSIONS: This review provides a conceptually robust synthesis of modifiable behavioural influences on oral health in autistic children, grounded in parent/carer perspectives. It highlights critical gaps, especially the underrepresentation of sugar-related dietary behaviours, alongside the need for adapted behavioural frameworks and greater evidence from diverse contexts beyond the USA. Findings contributed to the development of toothPASTE, a co-designed intervention, and illustrate the broader potential of scoping reviews to bridge evidence and practice in developing inclusive, theory-informed strategies for neurodivergent populations.

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10. Cheah HBL, Joginder Singh S, Ling IJY, Ahmad Rusli Y, Andzik NR. The use of AAC by children with autism in special education classrooms in Malaysia: perspective of special education teachers and parents. Augment Altern Commun. 2026: 1-11.

Many children with autism remain non-verbal for long periods and require Augmentative and Alternative Communication (AAC) to communicate. Although AAC use in Malaysian clinical settings has increased, support for its implementation in public special education classrooms remains limited. This study explored parents’ and special education teachers’ perspectives on classroom AAC use. A qualitative design was utilized, involving four focus group discussions with 12 parents and 15 special education teachers from three special education schools in Malaysia. Data were transcribed and analyzed using qualitative content analysis. Three main themes emerged: views about AAC, barriers to implementation and facilitators for its use. Both groups acknowledged the benefits of AAC, including increased vocabulary and utterance length. Teachers reported improved classroom participation and reduced challenging behaviors, while parents observed better two-way communication and increased confidence in their children with autism. However, several barriers were identified. These included limited knowledge and skills, misconceptions about AAC, student-related challenges such as low motivation, and AAC system issues like insufficient vocabulary and device damage. Teachers also highlighted workplace challenges, including large class sizes, limited funding, and restrictive school policies. Facilitators included strong willingness to collaborate among stakeholders and a clear need for professional training. Overall, successful AAC implementation requires addressing systemic barriers and fostering multidisciplinary collaboration.

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11. Dadds MR, Leonard B, Moelle EC, Clark-Whitney E, Eapen V, Tonge B, Northam J, Turnell A, Tully L. Brief online parent-led early intervention for childhood autism: A randomised-controlled trial. Aust N Z J Psychiatry. 2026: 48674261477988.

BACKGROUND: Child behavioural and emotion regulation, and social communication; and parental confidence and mental health, all contribute to developmental outcomes for autistic children; however, there are limited programmes which integrate support across these domains. METHODS: We report on a parallel, assessor-masked randomised controlled trial used to evaluate a brief, parent-led intervention, ParentWorks-Spectrum. Parents of 100 children aged 2-5 years with autism Level 2/3 and behavioural difficulties were randomly assigned (1:1) to ParentWorks-Spectrum (n = 49) or Waitlist (n = 51). ParentWorks-Spectrum involved 12-15 weekly 60- to 90-min online sessions of parenting intervention that covered three synergistic targets: child behavioural/emotional regulation, child social communication, and parental teamwork and mental health. Efficacy was assessed for primary (child conduct problems, Eyberg Child Behavior Inventory behavioural intensity and problem, and Social Responsiveness Scale, Second Edition autism features) and secondary (child social-emotional functioning and global functioning, parent sense of competence, parenting practices, mental health, and inter-parental conflict) outcomes. RESULTS: At postintervention, there were moderate to large improvements in the Intervention (n = 45) compared with the Waitlist group (n = 46) on three of four primary outcome measures: conduct problems (diff = -0.91, 95% confidence interval = -1.55 to -0.26), Eyberg Child Behavior Inventory intensity (diff = -27.84, 95% confidence interval = -43.76 to -11.92), and Social Responsiveness Scale, Second Edition total (diff = -11.76, 95% confidence interval = -22.84 to -0.68). Effects were maintained at 3-month follow-up. Improvements were found for all but one secondary outcome and did not significantly differ for mothers versus fathers. CONCLUSIONS: A brief synergistic intervention delivered by telehealth that integrates child and parenting domains has benefits across core and associated autism features, and positive functioning in parents, including fathers.Trial registration: ANZCTR #12618001866291 https://www.anzctr.org.au/Trial/Registration/TrialReview.aspx?id=381133&isReview=true.

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12. Dando E, Hahn J, Geier DA, Whiteley A, Whiteley P. Somatic, Psychiatric and Neurodevelopmental Comorbidities in People with Autism Spectrum Disorder (ASD): A Narrative Review. Healthcare (Basel). 2026; 14(16).

Background/Objectives: Autism spectrum disorder (ASD) is currently singularly described as a behaviourally defined neurodevelopmental diagnosis with symptoms affecting social communication and social understanding alongside the presence of restricted patterns of behaviour. Wide, and often very personal, variations in symptom intensities and differing developmental trajectories, reflective of large heterogeneity, are an important feature of the label. ASD carries enhanced risks for multiple over-represented, sometimes overlapping, comorbidities spanning behavioural, psychiatric and somatic domains. Said comorbidities often have numerous and far-reaching effects on quality of life by way of their impacts and, in extreme cases, their potential effects on life expectancy. It is of paramount importance that data on the risks of such comorbidities are available and, where possible, screening, preventive and/or treatment options implemented. Methods: In this narrative review, the authors searched databases (PubMed/Medline, ScienceDirect, Google Scholar) for papers published between 1 January 2015 and 16 February 2026 that were pertinent to comorbidity and autism. Results: We present data on the frequency of various somatic (gastrointestinal, immunological, metabolic, neurological, motor-sensory disorders), psychiatric (anxiety, mood, schizophrenia spectrum, personality, substance abuse, trauma, feeding and eating, sleeping, self-harm, neurocognitive disorders) and neurodevelopmental comorbidities (intellectual, attentional, speech and language, motor disorders) that can present alongside a diagnosis of ASD. We provide accompanying data on the magnitude of potential risk and, where available, information on comorbidity risks according to sex and age. Conclusions: This review paper deals with an extremely broad field. Limitations of the narrative review strategy are discussed alongside how the variable risk of comorbidity mimics the heterogeneity present in autism, thus inviting further investigations.

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13. David LW, Diseth TH, Jessen RS, Mediå LM, Nyquist CB, Stenberg N, Stänicke E, Stänicke LI, Wæhre A. « It’s Like a Chain Reaction of Discomfort »: A Phenomenological Qualitative Study on the Intersection of Autism and Gender Incongruence in Adolescents. J Autism Dev Disord. 2026.

PURPOSE: An overrepresentation of autism spectrum diagnoses (ASD) and autistic traits have been reported among people with gender incongruence. Several quantitative and qualitative studies have highlighted the intersection of autism and gender incongruence (GI). However, we have little knowledge on lived experiences of adolescents experiencing ASD and GI. The study aimed to shed light on lived experience of gender incongruence from the perspective of autistic adolescents. The analysis was guided by the following research question: How do adolescents with ASD and GI experience their bodies and gender in everyday life, and how do they make meaning of the intersection of autism and GI in everyday living? METHODS: This study is based on semi-structured interview guide alongside life-mode interviews of adolescents experiencing both ASD and GI. We adopted reflexive thematic analysis with phenomenology as the theoretical backdrop. RESULTS: The analysis concluded with three overarching meta-themes; « The emergence of the mismatch of gender identity and body in autistic adolescents », « The hard work of everyday routines – working all day and all night », and « Experiences of Bodily Estrangement – A Chain Reaction of Discomfort ». CONCLUSION: The findings contribute to the existing literature by emphasising how sensory sensitivities and gender identity distress intensify each other and how the transition from child to adolescence, and the body, is perceived. Results indicate tailored clinical implications for adolescents experiencing ASD and GI. Clinicians should consider multidisciplinary collaboration, individualised and flexible interventions that address both sensory regulation and gender-related support to improve quality of care for adolescents with ASD and GI.

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14. Duncan AL, Shepley C. Stronger Yet Stretched: Resilience and Stress in U.S. Families Raising Autistic Children. Autism. 2026: 13623613261480171.

Raising a child with autism presents families with unique challenges and experiences, often characterized by heightened stress but also remarkable resilience. This study utilizes cross-sectional data from the 2022 and 2023 National Survey of Children’s Health administered by the U.S. Census Bureau to examine levels of resilience and stress in U.S. families with and without a child diagnosed with autism. Tobit regression models, controlling for demographic, socio-economic, and social support factors, revealed that although families of autistic children experienced significantly higher stress, particularly in caregiving challenges, they also reported higher levels of resilience when accounting for stress compared with families of nonautistic children. Specifically, families raising a child with autism reported higher ratings of family communication, problem-solving, inner strength, and hope than families raising a child without autism. These findings challenge deficit-focused narratives, offering evidence of the adaptability and emotional growth present in households raising a child with autism.Lay AbstractRaising a child with autism presents families with unique challenges and strengths, often characterized by heightened stress but also remarkable resilience. This study looked at data from the 2022 and 2023 National Survey of Children’s Health administered by the U.S. Census Bureau to examine the resilience and stress of U.S. families with and without a child diagnosed with autism. Statistical models revealed that although families of autistic children experience significantly higher stress, they also report higher levels of resilience compared with families of nonautistic children. Specifically, families raising a child with autism reported higher ratings of family communication, problem-solving, inner strength, and hope. These findings offer evidence of the adaptability and emotional growth present in households raising a child with autism.

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15. Fernández-Guarido M, Diéguez-Poncela MP, Ruiz-Azcona L. Individualized Therapeutic Environments for Pain Management in Children with Autism Spectrum Disorder: A Scoping Review. Children (Basel). 2026; 13(8).

BACKGROUND/OBJECTIVES: Children with autism spectrum disorder (ASD) present unique challenges in pain assessment and management because of differences in communication, sensory processing, and pain expression, increasing the risk of pain underrecognition and inadequate treatment. This scoping review aimed to map and synthesize current evidence on pain processing, expression, assessment, and management in children with ASD, identify available pain assessment tools and interventions, and examine the contribution of individualized therapeutic environments to pain management. METHODS: This scoping review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews (PRISMA-ScR). PubMed, Scopus, and Web of Science were systematically searched for studies published between January 2020 and December 2025. Search strategies combined Medical Subject Headings (MeSH) and free-text terms. Two reviewers independently screened studies extracted data using a standardized form, and synthesized findings narratively. No formal methodological quality appraisal was undertaken, consistent with PRISMA-ScR recommendations. RESULTS: Included studies demonstrated substantial heterogeneity in pain perception and expression, with atypical behavioral responses, sensory differences, and communication difficulties frequently hindering pain recognition. Individualized, multidimensional pain assessment integrating behavioral observation, caregiver reports, and validated assessment tools was consistently supported. Sensory adaptations, tailored communication strategies, caregiver involvement, distraction techniques, and virtual reality showed potential to improve pain-related experiences and reduce procedural distress. However, evidence remained predominantly observational, methodologically heterogeneous, and limited by few psychometrically validated ASD-specific assessment instruments and the absence of standardized clinical protocols. CONCLUSIONS: Current evidence supports individualized, multidisciplinary pain assessment and management for children with ASD. Nevertheless, substantial evidence gaps remain, highlighting the need for validated ASD-specific assessment tools, standardized clinical protocols, and high-quality studies evaluating pharmacological, non-pharmacological, and technology-assisted interventions.

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16. Frolli A, Savarese G, Di Carmine F, Bosco A, Saviano E, Rega A, Carotenuto M, Ricci MC. RETRACTED: Frolli et al. Children on the Autism Spectrum and the Use of Virtual Reality for Supporting Social Skills. Children 2022, 9, 181. Children (Basel). 2026; 13(8).

The journal retracts the article titled « Children on the Autism Spectrum and the Use of Virtual Reality for Supporting Social Skills » […].

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17. Gibson J, Coppinger L, Handley-Cole E. Avoidable mortality: learning from the lives and deaths of people with a learning disability and autistic people. Br J Gen Pract. 2026; 76(770): 394-5.

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18. Gnazzo M, Bargiacchi G, Baldini V, Esposito M, Passerini R, Varriale E, Cerroni F, Germanò E, Maltese A, Parisi L, Roccella M, Spoto G, Di Rosa G, Barone R, Scifo L, Gallai B, Terracciano AM, Mannarino E, Carotenuto M. Chronological Age and Adaptive Outcomes Following Neuropsychomotor and Aquatic Interventions in Children with Autism: A Secondary Analysis. Children (Basel). 2026; 13(8).

Background: Autism Spectrum Disorder (ASD) can be conceptualized not as a static condition but as a dynamic disorder of developmental regulation, in which neuroplastic potential is translated into functional gains only through structured, experience-dependent therapeutic input. Neuropsychomotor Therapy of Early Development (TNPEE) and Therapy in Aquatic Motor Activities (TAMA) have shown differential efficacy in children with ASD, but whether chronological age moderates the magnitude of therapeutic response-or whether the characteristics of the intervention itself are the stronger determinant of outcome-has not been systematically examined. Methods: This was a non-randomized, exploratory secondary stratified analysis of a multicenter 18-month longitudinal cohort (N = 77 children with ASD, age 4-12 years) allocated to three groups: TAMA only, TNPEE combined with TAMA (TAMA+TNPEE), or TNPEE only. Participants were stratified into a younger (≤6 years, n = 16; TAMA n = 8, TAMA+TNPEE n = 3, TNPEE n = 5) and an older (>6 years, n = 61; TAMA n = 18, TAMA+TNPEE n = 22, TNPEE n = 21) subgroup. Adaptive functioning was assessed with the Vineland Adaptive Behavior Scales, Second Edition (VABS-II) at baseline and 18 months. Between-stratum comparisons used the Mann-Whitney U test; Spearman rank correlations and ANCOVA models with Age × Treatment interaction terms were used to test age moderation within a neuroplasticity-recruitment framework. Results: In the TAMA-only group, younger children showed significantly smaller adaptive gains than older children across the Composite (2.22 ± 1.14 vs. 3.53 ± 0.76, p = 0.012), Communication (p = 0.041), and Socialization (p = 0.016) subscales, with significant positive Spearman correlations between age and adaptive gains (r = 0.397-0.437). Simple slope analysis confirmed a significant age effect within the TAMA group (b = 0.231, SE = 0.083, p = 0.010) but not in the TNPEE (b = 0.133, p = 0.157) or TAMA+TNPEE (b = 0.135, p = 0.198) groups. The formal Age × Treatment interaction term in the ANCOVA did not reach statistical significance (all p > 0.18). As this interaction test is the formal statistical test of differential age moderation, the simple-slope pattern above should be regarded as exploratory rather than confirmatory. Treatment group accounted for the large majority of variance in adaptive gains (partial η(2) = 0.78-0.95), whereas age explained only a small proportion of outcome variability. ASD severity level transitions were comparable across age strata in TNPEE-based groups. Conclusions: In this exploratory secondary analysis, TNPEE-based interventions were associated with adaptive gains that did not differ significantly by age across the 4-12 year age range, whereas aquatic therapy alone showed an age-dependent pattern favoring older children. These findings are hypothesis-generating and consistent with a neuroplasticity-recruitment model in which therapeutic architecture-rather than chronological age alone- may be associated with how effectively latent plastic potential is translated into developmental gains, although the non-significant Age × Treatment interaction and the small, imbalanced subgroups (including n = 3 in the youngest TAMA+TNPEE stratum) mean these findings require confirmation in adequately powered, prospectively designed studies, with implications for clinical decision-making regarding therapy timing and design.

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19. Gram EB, Lund LC, Jensen PB, Hallas J, Bliddal M, Lambourne AB, Chambers C, Munk-Olsen T, Wesselhoeft R, Nordeng H, Damkier P. Prescription Use of Paracetamol During Pregnancy and Risk of Autism Spectrum Disorder and Attention-Deficit/Hyperactivity Disorder in Early Childhood. J Am Acad Child Adolesc Psychiatry. 2026.

OBJECTIVE: Paracetamol is the drug of choice for treating pain and fever during pregnancy. Concerns exist regarding risk of neurodevelopmental disorders in prenatally exposed offspring, especially autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). Since September 2,013, most paracetamol sales are prescription-based in Denmark, enabling investigation in a population-based setting. We investigated the association between prescription-based paracetamol use during pregnancy and the risk of clinically diagnosed ASD and ADHD detected in early childhood among exposed offspring. METHOD: We included all singleton children live-born between 01 October 2,014 and 31 December 2,021, and their linked mothers using Danish nationwide health registers. Exposure was defined as ≥1 prescriptions redeemed for paracetamol during pregnancy. Children were followed until 6 years of age or the end of the study period (31 December 2,022). Using a triangulation approach, we compared i) exposed children to unexposed children, ii) exposed children to children of mothers who redeemed prescriptions before – but not during – pregnancy, and iii) used a paternal negative-exposure group. RESULTS: Adjusted risk ratios (aRR) for ASD and ADHD at 6 years of age among exposed children compared to unexposed were 1.15 (95% CI 0.96-1.39) and 1.09 (95% CI 0.85-1.40), respectively. No increased risks were observed when comparing to children of mothers redeeming prescriptions before – but not during – pregnancy (aRR 1.01 (95% CI 0.76-1.32) and (aRR 1.01 (95% CI 0.67-1.53)), suggesting confounding by underlying maternal illness. In the paternal negative-exposure group, aRRs were similar (ASD: 1.06 (95% CI, 0.88-1.28)) and slightly higher (ADHD: 1.23 (95% CI, 0.96-1.58)) to the primary estimates, the latter suggesting unmeasured familial confounding. CONCLUSION: Our findings suggest that prenatal exposure to prescription-based paracetamol is unlikely to confer a clinically meaningful increased risk of ASD or ADHD diagnosed by 6 years of age. Due to limited follow-up time, our findings only apply to early-diagnosed neurodevelopmental disorders which are likely to be the more severe cases.

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20. Grant GA, Gall A. Rethinking Clinical Visibility in Autistic Females: Autistic Camouflaging and Menstrual Cycle Variability. Int J Environ Res Public Health. 2026; 23(8).

Autism spectrum disorder (hereafter autism) is increasingly recognised as being underdiagnosed in females worldwide, contributing to inequalities in clinical visibility and access to appropriate care. The clinical visibility of autism in females is influenced by diagnostic practices historically developed using predominantly male samples, which may be less sensitive to less overt or more socially camouflaged presentations. Greater levels of autistic camouflaging, including masking, compensations, and assimilation, have been proposed as one factor contributing to differences in the presentation of autism between males and females. However, camouflaging is resource-intensive, associated with significant psychological costs, and varies across contexts. Because camouflaging relies on cognitive-emotional resources, it may also fluctuate under conditions that influence these resources, such as the menstrual cycle. To date, no empirical research has directly investigated this relationship. This opinion article proposes the conceptual hypothesis that menstrual cycle-related fluctuations may influence the cognitive-emotional resources required for autistic camouflaging, with potential implications for clinical visibility, diagnostic recognition, mental health, and equitable access to care. By synthesising indirect evidence from autism, camouflaging, and menstrual health research, this conceptual framework aims to guide future empirical investigation and highlights the urgent need to better understand this overlooked intersection to improve diagnostic equity, clinical recognition, and women’s health outcomes globally.

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21. Harris TG, Record J, Smith SD. Factors Impacting Treatment Decisions in Caregivers of Autistic Children. Behav Sci (Basel). 2026; 16(8).

Leventhal’s Common Sense Model (CSM) is a theoretical framework developed to understand the self-regulatory processes involved in adapting to and managing health threats. This is the first known study to examine all components of the CSM (i.e., illness perceptions and coping behaviors) in its application to treatment seeking behaviors in caregivers of autistic children (N = 288). Results revealed a significant indirect pathway from caregivers’ perceptions of the unpredictable nature of ASD symptoms to intentions to seek treatment for their children through problem-focused coping (β = 0.07, p = 0.02, 95% CI [0.01, 0.13]). Additionally, caregivers’ perceptions about the controllability of their children’s ASD symptoms were positively related to treatment seeking behaviors (β = 0.19, p = 0.03, 95% CI [0.06, 0.34]). These findings suggest that providers assess and then use CBT-based strategies (e.g., cognitive restructuring) to potentially modify aspects of caregivers’ cognitions and coping behaviors during ASD feedback sessions to promote prompt treatment seeking for their autistic children.

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22. Hung YR, Hou YM, Iao LS, Wu CC. Development of the Screening Tool for Autism in Two-Year-Olds-Brief Form: Accuracy in Detecting Autism in Toddlers. Autism. 2026: 13623613261480176.

Early diagnosis of autism is crucial for timely intervention, yet existing screening tools are often limited by administration time in clinical settings. This study developed and evaluated the Screening Tool for Autism in Two-Year-Olds-Brief Form (STAT-BF) for detecting autism in toddlers aged less than 36 months. In Study 1, two independent samples of 40 toddlers each (20 autistic and 20 with developmental delays [DDs]) were analyzed using chi-square tests to identify discriminative items. Five items (Turn-taking, Bubbles, Snack, Balloon, and Bag of Toys) were retained, with a cutoff score of 3 yielding optimal sensitivity and specificity. Study 2’s validation, based on a sample of 251 toddlers (81 autism, 55 mild- autism, 115 DDs), yielded high sensitivity for autism (0.91; 74/81) and mild-autism (0.91; 50/55), together with good specificity (0.81; 93/115). Administration time was reduced to 5 to 10 min while maintaining screening accuracy. These findings suggest that the STAT-BF may serve as a feasible and efficient Level 2 screening tool for early autism detection among toddlers referred for developmental concerns, particularly in resource-limited clinical settings. Further validation in diverse populations and longitudinal follow-up is warranted to establish generalizability.Lay AbstractEarly support can make a big difference in the outcomes of autistic children, but they must first be identified as early as possible. Although reliable autism screening tools exist, many are too time-consuming for high-volume clinical settings. In this study, we developed and validated a shorter version of the Screening Tool for Autism in Two-Year-Olds (STAT) that takes 5 to 10 min. This brief tool focuses on five play-based activities that assess social communication skills in toddlers aged 18 to 36 months. We conducted a two-phase study in Taiwan. The first phase identified the most discriminating items, and the validation phase included 251 toddlers with autism, mild-autism, and developmental delays (DDs). Results showed that the brief form correctly identified over 90% of autistic children, including those with milder symptoms, and correctly ruled out autism in about 80% of children with DDs. This efficient screening method could help more health care providers detect autism early, especially in high-volume clinical settings with limited resources. Because the brief form uses structured play instead of parent questionnaires, it offers direct behavioral observation and increases cultural accessibility for families from a broad range of backgrounds. This brief screening tool could help clinicians more efficiently identify autism among toddlers already referred for developmental evaluation, facilitating timely referral for formal diagnostic confirmation and subsequent access to intervention services.

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23. Kayupova G, Muzafarova A, DeLellis N, Nukeshtayeva K, Lyubchenko M. Financial challenges and economic impact on families of children with autism spectrum disorder in Kazakhstan. Front Public Health. 2026; 14: 1846395.

BACKGROUND: Families of children diagnosed with autism spectrum disorder (ASD) often face challenges associated with treatment, caregiving, and education, which lead to substantial expenses. In Kazakhstan, the economic impact of ASD on families remains insufficiently studied. Therefore, our aim was to examine the financial burden and identify factors associated with financial difficulties among these families. METHODS: A cross-sectional study was conducted at the Regional Children’s Psychiatric Dispensary in the Karaganda region of Kazakhstan in 2023. The survey was administered to parents of children with ASD under 18 years of age both in person and online. Of the 285 questionnaires distributed, 239 were included in the analysis. The primary outcome was the presence of financial difficulties among these families. Regression analysis identified several variables associated with monthly expenditures related to caring for a child with ASD. RESULTS: Among the participating families, 90.79% reported experiencing financial difficulties related to caring for a child with ASD. Non-medical expenditures accounted for the largest proportion of total monthly expenditures (38.08%). Multivariable logistic regression showed that older child age was associated with lower odds of financial difficulties (OR = 0.76, p < 0.001), whereas families living in urban areas had higher odds of reporting financial difficulties than those living in rural areas (OR = 6.30, p < 0.05). CONCLUSION: These findings provide insights into the economic challenges experienced by families of children with ASD in Kazakhstan and suggest the importance of continued development of government support.

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24. Kim TH, Cha JM, Chung SH. Blue Rubber Bleb Nevus Syndrome with a Novel PDGFRA Variant and Comorbid Autism Spectrum Disorder: A Case Report. Children (Basel). 2026; 13(8).

Background: Blue rubber bleb nevus syndrome (BRBNS) is a rare vascular disorder that primarily affects the skin and gastrointestinal tract, driven predominantly by somatic mosaic mutations, most commonly in TEK. Here, we report a case of a child with BRBNS and autism spectrum disorder (ASD). Case presentation: A 13-year-old boy diagnosed with ASD at 3 years presented with recurrent abdominal pain, blood in the stool, and severe anemia persisting for 6 months. At admission, his hemoglobin level was 5.6 g/dL. He had received a transfusion at age 6 for unexplained anemia. On examination, he appeared pale but stable, with bluish, compressible nodules on the right index finger and great toe, typical of BRBNS. Laboratory findings were consistent with chronic bleeding-induced iron deficiency. Endoscopic findings revealed multiple vascular lesions in the stomach, duodenum, ileum, and colon. Several colonic lesions were removed and pathologically confirmed as cavernous hemangiomas. Magnetic resonance enterography revealed additional small intestinal lesions. Whole-exome sequencing performed on buccal swab-derived DNA identified a heterozygous PDGFRA variant (c.2075G>T, p.Ser692Ile) classified as a variant of uncertain significance; no variants were identified in TEK, PIK3CA, or GNAQ. The patient underwent endoscopic resection of the larger lesions and received oral iron and a proton pump inhibitor. Hemoglobin stabilized at 11-12 g/dL, and no further transfusions were required. Conclusions: This case raises, but does not confirm, the possibility that genes other than TEK may contribute to BRBNS. The coexistence of ASD may be coincidental; a mechanistic link remains unproven. Careful endoscopic therapy and medical management controlled bleeding and anemia in this child.

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25. Li H, Xu X, Mao C, Liu Q. Longitudinal Associations of Active Versus Passive TikTok Use with Depression: A Chain Mediation Model of Autistic Traits and Self-Esteem. Behav Sci (Basel). 2026; 16(8).

The global popularity of short-form video applications such as TikTok has increased rapidly. However, longitudinal evidence on how distinct usage patterns affect mental health outcomes, particularly depression, remains limited. The present study investigated whether active versus passive TikTok use differentially predicts depression through the mediating roles of autistic traits and self-esteem. A three-wave longitudinal survey was conducted in China at six-month intervals. A total of 590 university students (aged 17-24 years) completed questionnaires assessing active/passive TikTok use and depression at Time 1 (T1), autistic traits and self-esteem at Time 2 (T2), and depression again at Time 3 (T3). Mediation analyses were performed using PROCESS macro (Model 6), controlling for gender, age, daily TikTok usage time, and T1 depression. Active TikTok use indirectly predicted lower depression through increased self-esteem, but not through autistic traits. In contrast, passive TikTok use predicted higher depression via three distinct pathways: through elevated autistic traits, through reduced self-esteem, and through the serial mediation of autistic traits leading to reduced self-esteem. Active and passive TikTok use exhibit divergent longitudinal associations with depression, mediated by distinct socio-cognitive mechanisms. These findings highlight the importance of distinguishing between usage modes when evaluating the mental health implications of short-video platforms.

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26. Li Q, Zhao W, Xu D, Le J, Kou J, Lan C, Xu X, Meng F, Li X, Shou X, Zhang R, Kendrick KM. Peripheral oxytocin but not vasopressin concentrations are associated with language skills in young autistic children. Front Psychiatry. 2026; 17: 1854532.

BACKGROUND: Autistic children often have language development problems, and language ability is a key contributor to social behavior. There is increasing evidence for altered circulating concentrations of the neuropeptides oxytocin and vasopressin in young autistic children and exogenous treatment with either peptide can improve social symptoms. However, to date, the importance of both tonic endogenous concentrations of these two peptides and increased ones following exogenous administration for language development in autistic children has not been established. METHODS: Here we have firstly investigated the associations between blood oxytocin and vasopressin concentrations and vocabulary use and other language/communication measures in a cohort of 148 young autistic children (3-7.5 years) and also in saliva samples from another cohort of 40 autistic children (2-6 years). Furthermore, we examined whether specific improvements in language communication occurred in this latter cohort following 6 weeks of intranasal oxytocin treatment administered every other day followed by positive social interactions previously shown to improve overall social symptoms. RESULTS: Baseline plasma oxytocin, but not vasopressin, concentrations were significantly associated with both vocabulary development and other language/communication measures after controlling for age and gender in the main cohort of children and additionally in a smaller subset of them even if developmental quotient was controlled for. There was a similar association after controlling for age, gender, and the general adaptability composite score between baseline saliva oxytocin concentrations and language/communication scores in the second independent cohort. In this latter cohort, intranasal oxytocin treatment facilitated language/communication scores across several different scales, and improvement was correlated with post-treatment increases in saliva oxytocin concentrations and significantly indirectly mediated by them. CONCLUSIONS: Overall, this analysis provides support for a potentially important role of oxytocin in language development in autistic children and suggests that it may have therapeutic utility for individuals with language problems.

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27. Liu H, Wang YR, Wang M, Yu T, Liu D, Wang J, Gao Y, Hu Y, Ma H, Gao F, Wu S, Wei Z, Wang Y. Biomimetic Brain-Targeted Delivery of Esterified XAV939 for Treating Autism-Associated Social Deficits. Pharmaceutics. 2026; 18(8).

Background/Objectives: Autism spectrum disorder (ASD) is a group of developmental disorders featured by social dysfunction, for which there still lacks effective treatments. Our previous study demonstrated that XAV939, a tankyrase inhibitor, could alleviate social dysfunction in two ASD mouse models via suppressing Wnt and glycolytic signaling. However, its further application is limited by poor brain-blood barrier penetration and low bioavailability. Methods: XAV939 was structurally optimized by esterification. The effects of XAV939-derivatives on Wnt/glycolysis were assessed by Western blotting, Topflash luciferase assay, lactate levels and the extracellular acidification rate. Social behaviors were evaluated by a three-chamber test, a resident-intruder test and ultrasonic vocalization. Biomimetic brain targeting was achieved by neuron-astrocyte hybrid cell membrane encapsulation. Periphery toxicities were examined by biochemical and histological analysis. Results: Three esterified XAV939 were synthesized. Data from both 293FT cells and primary Shank3b(-/-) neurons revealed that an alkyl ester prodrug of XAV939 (named XAV939-L1) exhibited dual inhibition of Wnt/glycolysis. Intravenous injection of XAV939-L1 effectively improved the social function of Shank3b(-/-) mice but showed hepatic side effects. Further, we made brain-targeting XAV939-L1 (XAV939-L1-BT) by neuron-astrocyte hybrid cell membrane encapsulation, which greatly enhanced the accumulation of XAV939-L1-BT in the brain and reduced its distribution in peripheral tissues (liver and intestine). At a half-dose of XAV939-L1, XAV939-L1-BT exhibited significant social improvement effects without obvious hepatic and intestinal toxicity. Conclusions: Our data demonstrated an esterified XAV939 and its biomimetic brain-targeted formula as a potential drug candidate for treating ASD-associated social dysfunction.

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28. Malakova B, Karpuzov S, Tsolyov D, Petkov G, Zamfirov M. Risk Beyond the Variant: A Composite Metric for Autism Gene Pathogenicity. Genes (Basel). 2026; 17(8).

Background: Variant-based pathogenicity predictors such as REVEL evaluate missense variants in isolation, discarding the gene-length and allele-frequency context needed to compare collections of genes. Methods: We introduce a composite gene-level metric integrating Hardy-Weinberg heterozygosity, coding-sequence length, and REVEL scores. The metric returns a single value per gene expressing variant burden per unit of coding sequence within a given cohort, so that the ratio between a case and a control cohort quantifies gene-level enrichment. It was evaluated on 55 high-confidence autism genes, defined as the intersection of three large-scale ASD sequencing studies, against the 1000 Genomes reference. Results: It identifies elevated pathogenic burden in 48 of 55 genes, removes gene-length and variant-count confounds, and substantially outperforms naive gene-level aggregation of REVEL scores. Bootstrap resampling and a label-permutation control confirm the enrichment is stable and not an artefact of the scoring construction. Conclusions: The metric allows genes to be ranked within a set and aggregate burden to be compared across gene sets. We present it as a complementary gene-level layer for case-control and gene-set comparisons, with a nonlinear successor outlined as future work.

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29. Miller CJ, Portlock T, Nyaga DM, O’Sullivan JM. Sex-dependent prediction of autism. Front Genet. 2026; 17: 1799530.

INTRODUCTION: Autism spectrum disorders (ASD) have a global prevalence of 1%, with a male-to- female diagnosis ratio of roughly 4:1. Several models have been developed to predict ASD using genetic information. However, the influence of biological sex on prediction outcomes remains underexplored. METHODS: We present an ensemble model to predict ASD, which integrates polygenic risk scores (PRSs), common genetic variants, and ASD risk genes with the MSSNG whole genome sequencing (WGS) dataset. RESULTS: Following training, our model achieved an accuracy of 0.68, an area under the receiver operating curve (AUROC) of 0.72, and a recall of 0.77 on the test dataset. Notably, common variants contributed more significantly to ASD prediction in males than females (p < 0.001), with accuracies of 0.69 and 0.66, respectively. The 16p11 locus emerged as particularly predictive for females (p < 0.001). Gene enrichment analysis using the Allen Brain Atlas revealed that expression of ASD risk genes that were significant in females were enriched (FWER < 0.05) in the primary somatosensory cortex, inferior parietal cortex, and parietal neocortex during fetal development. By contrast, male ASD risk gene expression was enriched (FWER < 0.05) in the dorsolateral prefrontal cortex and anterior cingulate cortex across developmental stages (fetal to adult). DISCUSSION: These findings underscore a sex-dependent role for common genetic variants in the risk of developing ASD. In doing so, they highlight the utility of ensemble models that incorporate common variation and biological sex for ASD prediction.

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30. Osredkar J, Godnov U, Vrhovšek MJ, Osredkar D, Avguštin G, Fabjan T, Kumer K. Stool Mucosal Immune Protein-Cytokine Interconnections in Children with Autism Spectrum Disorder: An Age-Adjusted Partial Correlation Analysis. Int J Mol Sci. 2026; 27(16).

Children with autism spectrum disorder (ASD) exhibit gut mucosal immune alterations, but the co-regulatory architecture linking stool immune proteins and cytokines within the same cohort remains unstudied. In 115 children (74 ASD, 41 controls; age 5-18 years), seven stool immune proteins (IgA subclasses, α(1)-antitrypsin and calprotectin subunits) were quantified by UHPLC-MS/MS and ten by Luminex-chemokines eotaxin/CCL11 and IL-8/CXCL8 plus eight cytokines-each normalised to total protein. Age-adjusted partial Spearman correlations were computed for all 70 protein-cytokine pairs per stratum, using Benjamini-Hochberg correction, bootstrap confidence intervals and Fisher r-to-z tests. No pair survived FDR correction in any stratum. IgA1 and IL-1β/TP correlated positively across all strata (full cohort ρ = 0.409, 95% CI 0.131-0.634, n = 62; controls 0.583; ASD 0.210), with no significant between-group difference (Fisher z = 1.70, p = 0.090). Multiple imputation attenuated this to ρ = 0.265 (95% CI 0.055-0.452). An inverse trend between IL-1β/TP and CARS score (ρ = -0.336, n = 41) did not survive correction (p-FDR = 0.576). This power-limited, hypothesis-generating study identifies an exploratory IgA1-IL-1β mucosal axis present across groups, with no confirmed between-group difference. Adequately powered multi-centre studies are required.

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31. Pantazakos T. What is Phenomenology For? Applications in Autism Mental Health and a Pragmatist Criterion of Success. Psychopathology. 2026: 1.

Phenomenological approaches have gained increasing traction in autism mental health studies, yet what phenomenology specifically contributes, beyond a general orientation toward lived experience, has received little scrutiny. This paper takes up two questions: why phenomenology, rather than other methods of perspective-taking, is needed in autism mental health research and clinical practice, and what it is concretely for. The stance adopted throughout is that autism is, in agreement with the neurodiversity movement, not a deficit on the level of the condition, while what serves a given person remains open, facet by facet, to empirical inquiry. The paper makes two contributions. The first is a pragmatist criterion of phenomenological success, by which an interpretation earns its credibility through, in the clinical case, the capacity to facilitate outcomes valued by the service user. Seeing as such inquiry reaches beneath what a person can articulate, it risks re-enacting the displacement of autistic voices that the neurodiversity movement opposes. Two safeguards are provided against this eventuality. The second contribution pinpoints three sites where phenomenology does work other methods cannot: assessment and formulation, where it surfaces the experiential structure a presenting symptom obscures; evaluation of outcomes, where it supplies the register in which success is judged at all; and the therapeutic relationship. Illustrations are drawn from a recent qualitative study with autistic psychotherapy clients.

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32. Payne E, Sarasua SM, Rogers C, Martin R, Phelan K, Beamer L, Boccuto L. The Neurobehavioral Profile of Phelan-McDermid Syndrome: Suggestions for Assessment Tools in Light of the 2023 Consensus Guidelines. Genes (Basel). 2026; 17(8).

OBJECTIVES AND BACKGROUND: Individuals with Phelan-McDermid Syndrome (PMS) present with a variety of symptoms, including a breadth of behavioral issues. Clinically assessing behavior in PMS remains challenging due to the overabundance of behavioral assessments and the lack of tools validated explicitly for use in individuals with intellectual disability (ID) and neurodevelopmental disorders. This review sought to suggest which assessment tools would best clinically assess behavior in individuals with PMS. METHODS: Validated behavioral assessment tools were identified using a systematic search of the literature, and relevant data for each assessment were extracted. The consensus guidelines for PMS were reviewed. RESULTS: This review identified 131 validated assessment tools that were categorized by the intended age group and into specific behavioral domains: Autism spectrum disorder (ASD) screening, adaptive behavior, restricted and repetitive behaviors, challenging/disruptive behaviors, mental health screening, and other miscellaneous behaviors such as avoidance and impulsivity. DISCUSSION: Based on the 2023 consensus guidelines, suggestions were given on which tools would be best for assessing various symptoms and behaviors in PMS. Choosing the best assessment tools to appraise behavior and related symptoms in individuals with PMS will aid clinicians in decision-making and lead to more personalized treatment plans.

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33. Prahl A, Fraze K, Kannan A, Grauzer J, Sturdivant RX. Functional Reading Activities to Motivate and Empower: Maintenance of Reading Outcomes for Young Adults With Intellectual and Developmental Disabilities Following a Randomized Controlled Trial. Am J Speech Lang Pathol. 2026: 1-14.

PURPOSE: This study examined whether the effects of Functional Reading Activities to Motivate and Empower (FRAME), a functional, strategy-based reading comprehension intervention for young adults with intellectual and developmental disabilities (IDDs), were maintained 6 months following the completion of the intervention and explored participants’ perceptions of the intervention’s feasibility, relevance, and perceived impact. METHOD: Participants were 44 young adults with IDDs (ages 18-26 years) who participated in a previously reported randomized controlled trial (FRAME participants: n = 23; controls: n = 21). Trial outcomes were assessed via telepractice at pretest, posttest, and 6-month follow-up. Six-month maintenance analyses focused on outcomes that demonstrated significant posttest group differences: use of (a) reading comprehension strategies (proximal) and (b) reading comprehension questions (distal). Participant perceptions (social validity) were collected post-intervention from FRAME participants using a structured interview protocol with closed- and open-ended items. RESULTS: At the 6-month follow-up, FRAME participants demonstrated sustained but reduced improvements in strategy use relative to controls (p = .040). Between-groups differences were not maintained for reading comprehension questions (p = .091). Participants reported high acceptability and perceived relevance of FRAME, with qualitative themes reflecting perceived improvements in comprehension, self-improvement, and increased independence. CONCLUSION: Findings suggest that FRAME supports sustainable gains in reading comprehension strategy use and is perceived as meaningful and feasible for young adults with IDDs, although additional supports may be needed to promote sustained improvements in distal comprehension outcomes. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.33307218.

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34. Pu Y, Zhao W, Li M, Chen Z. Enhancing Theory of Mind in Children with Autism Through Computer-Assisted Instruction and the Thought-Bubble Strategy. Behav Sci (Basel). 2026; 16(8).

Children with autism spectrum disorder (ASD) have significant deficits in communication, emotional recognition, perspective-taking, and social skills. Evidence from existing studies has shown that the social interaction skills of children with ASD are closely related to their theory of mind (ToM) abilities. While prior research has explored the effect of single intervention modes such as computer-assisted instruction (CAI) and the thought-bubble strategy, the efficacy of combining CAI with the thought-bubble strategy remains unclear. This study investigates the effectiveness of this multifaceted approach in fostering ToM development in children with ASD. Using a single-case design, the intervention for two children with ASD involved implementing CAI combined with the thought-bubble strategy to teach ToM skills to children with ASD, including basic beliefs, first-order beliefs and first-order false beliefs. Results indicated that both children showed an increase in their ToM abilities, evidenced by their increased tendency to use « I think/I feel » statements in everyday life, enhanced understanding of false beliefs, and a decrease in negative emotions. The thought-bubble strategy can be embedded in CAI, and the combination of these two methods facilitates the enhancement of the ToM abilities among children with ASD with good maintenance and generalization effects.

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35. Qin S, Lin Y, Chen Y, Yao S, Zhou D, Zhang C, Yan J, He Y, Zhou Y. Research progress on the microbiota-gut-brain axis in autism spectrum disorder: a narrative review. Front Microbiol. 2026; 17: 1824546.

Autism spectrum disorder (ASD) is a group of neurodevelopmental disorders characterized by deficits in social interaction and the presence of repetitive, stereotyped behaviors, often accompanied by gastrointestinal symptoms. The prevalence of ASD is on the rise, and the lack of specific pharmacological treatments places a significant burden on families and society. However, the discovery of the microbiota-gut-brain axis (MGBA) offers new opportunities for research into ASD. The gut microbiota, a core component of the MGBA, engages in bidirectional communication with the central nervous system through neural, immune, and metabolic pathways. Dysregulation of the gut microbiota is closely associated with the pathogenesis and progression of ASD. Children with ASD often exhibit specific alterations in their gut microbiota, including an increased abundance of Firmicutes and Proteobacteria, a decreased abundance of Bacteroidaceae, and abnormalities in short-chain fatty acid metabolism. These alterations are associated with neurotransmitter imbalances and impaired intestinal barrier function, which are thought to subsequently contribute to neuroinflammation. Given these insights, intervention strategies targeting the gut microbiota-such as probiotics/prebiotics supplementation, fecal microbiota transplantation (FMT), and gluten-free/casein-free diets-show promise in alleviating gastrointestinal symptoms and core behavioral deficits in children with ASD. This narrative review synthesizes the fundamentals of the MGBA, critically examines the mechanisms linking gut microbiota to ASD, discusses recent advances in related treatments and their methodological limitations, and aims to provide insights for future research and the potential development of precise, microbiota-based interventions for ASD.

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36. Raghunandan CV, Mohiuddin S, Ghaziuddin N. Letter: Caregiver-Reported Monitoring of Catatonia in Autistic Adolescents: An Outpatient Measurement-Based ApproachIntroduction. J Child Adolesc Psychopharmacol. 2026: 10445463261484457.

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37. Ruggieri V. [Autism – Phenotypic variability]. Medicina (B Aires). 2026; 86 Suppl 3: 48-53.

Autism is a neurodevelopmental disorder with a neurobiological basis, affecting 1 in 31 people, with a male predominance (3.8 to 1). Characterized by deficits in social cognition and communication, restricted interests, and stereotyped behaviors, along with sensory processing difficulties, this condition accompanies individuals throughout their lives, with variations in its progression. According to support needs, it is divided into levels 1 (mild), 2 (moderate), and 3 (severe). While the classification is clear, it does not include clinical subtypes related to the presence of neurodevelopmental and psychiatric disorders, genetic bases, neurogenetic entities, and/or variations in its progression. In this work, I will analyze some frequently observed autistic phenotypes not described in the DSM-5 and delve into four specific ones, recently defined in the literature, that show a genotype-phenotype correlation. These are: 1. Social and behavioral autismo, 2. Mixed autism with developmental delay, 3. Moderate autism, and 4. Widespread autism. Different genes and their expression timing were identified in these phenotypes, suggesting a pre- and postnatal temporality that impacts clinical presentation and age of diagnosis. Identifying different phenotypes facilitates research and allows for a phenotype/genotype correlation, defining clinical profiles and therapeutic guidance.

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38. Sadik A, Khandaker GM, Pardiñas AF, Lundberg M, Lee BK, Magnusson C, Rai D, Madley-Dowd P. Antidepressant Prescribing Trends for Adults With and Without Autism in the United Kingdom From 1997 to 2023: A Population-Based Cohort Study Using Clinical Practice Research Datalink Aurum. Autism Res. 2026: e70360.

Antidepressant prescribing and autism diagnoses have increased in recent years. We aimed to describe and compare trends in antidepressant prescribing, indications, doses and durations in autistic and non-autistic males and females in the United Kingdom (UK) from 1997 to 2023. Using population-representative UK primary care records, we defined three autistic groups-autistic adults with intellectual disability (ID), autistic adults without ID and all autistic adults-and four non-autistic groups. In each calendar year we calculated: annual, lifetime and new antidepressant prescribing; indications for serotonin-selective reuptake inhibitor initiation; average doses prescribed for citalopram, fluoxetine, and sertraline; and the proportion of courses that lasted over 1, 2, and 3 years. We also repeated analyses with sex-stratification. In all, 34,173,295 non-autistic adults and 172,242 autistic adults were included (47,011 with ID and 125,231 without ID). 30% of autistic adults and 14.7% of non-autistic adults were prescribed an antidepressant in 2023. Prescriptions, doses and course durations increased over time for all groups. Prescriptions were highest in autistic adults without ID and females, whereas course durations were highest in autistic adults with ID. Recording of depression and anxiety as indications was lower for those with ID. Antidepressant prescribing has increased more for autistic adults than non-autistic adults since 1997, with more new starters, higher doses and longer course durations. This potentially increases the risk of adverse medication effects for autistic adults and emphasizes the need for stronger evidence around the effectiveness and tolerability of mental health interventions and the reasons for systematic differences in prescribing.

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39. Sahu RK, Bird LM, Geltzeiler AR, Vasudevan P, Vargas M, Crabb B, Ruedy J, Chung WK, Chung HL. DDX23 gain-of-function linked to autism spectrum disorder with intellectual disability, motor delay, and seizure. Genet Med Open. 2026; 4: 104484.

PURPOSE: DDX23, a member of the DEAD-box RNA helicase superfamily, is crucial for RNA processing and translation initiation during gametogenesis and cell division. This study aims to determine the disease-causing potential and clinical relevance of rare de novo DDX23 missense variants identified in individuals with neurodevelopmental and cardiopulmonary anomalies. METHODS: Clinical and genetic analyses were performed on 3 individuals presenting with developmental delay or intellectual disability, facial dysmorphisms, brain structural abnormalities, and cardiopulmonary defects. Exome sequencing identified rare de novo monoallelic missense variants at p.Arg528-p.(Arg528Cys), p.(Arg528His), or p.(Arg528Gln)-in DDX23. In silico prediction tools were used to assess the potential functional impact of these variants. To test their disease-causing role in vivo, wild-type and two mutant DDX23 alleles, p.(Arg528Cys) and p.(Arg528His), were expressed ubiquitously or in a tissue-specific manner in a humanized Drosophila model. RESULTS: All 3 individuals carried a de novo missense variants at p.Arg528-p.(Arg528Cys), p.(Arg528His), or p.(Arg528Gln)-all predicted in silico to be deleterious, with dominant effects. Expression of the p.(Arg528Cys) and p.(Arg528His) alleles in Drosophila resulted in severely compromised development and survival, with either ubiquitous or tissue-specific expression leading to a complete loss of progeny. These findings demonstrate a robust functional impact of the variants consistent with a gain-of-function mechanism. CONCLUSION: Our study identifies recurrent de novo missense variants in DDX23 as the genetic cause of a neurodevelopmental syndrome. Functional assays in Drosophila confirm the disease-causing potential of these variants and support a gain-of-function mechanism for the p.(Arg528Cys) and p.(Arg528His) alleles.

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40. Sallum BT, Haddad MEO, Figueiredo MGC, Bara TS, Furlin V, Cordeiro ML. Delayed Diagnosis and Missed Opportunities for Early Autism Identification in Brazil: An Exploratory Scoping Review. Children (Basel). 2026; 13(8).

Background/Objectives: Timely identification of autism spectrum disorder (ASD) is essential for access to early intervention; however, diagnostic delay remains a persistent challenge. Methods: This scoping review synthesized evidence from eight studies (>24,000 participants), most conducted in the Southeast region, on diagnostic pathways, screening practices, and barriers to ASD identification in Brazil, following PRISMA-ScR guidelines. Results: Across studies, mean age at diagnosis frequently exceeded 48-60 months, while the interval between first caregiver concern and diagnosis ranged from 24 to 36 months, with tertiary-care samples reporting diagnostic ages approaching 79 months. Diagnosis was predominantly specialist-driven, with limited involvement of primary care providers (PCPs). Later identification was associated with reliance on the public health system in a multinational analysis that included Brazil, while geographic concentration of specialized services and socioeconomic inequalities were identified as reported barriers across the included studies. Race/ethnicity was rarely reported. Delays emerged from interacting multilevel barriers, including limited caregiver awareness, dismissal of parental concerns, inconsistent developmental surveillance, fragmented referral pathways, and shortages of specialists. Structural inequities, particularly geographic disparities and urban concentration of services, compounded these challenges. Conclusions: The evidence suggests delayed ASD diagnosis in Brazil reflects systemic gaps in care organization rather than isolated clinical factors. Strengthening PCP-based developmental surveillance and improving referral coordination are key strategies to reduce preventable delays and promote earlier access to intervention.

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41. Shen Y, Pan R, Liu C, Zheng J, Yang X. De Novo ZNF292 Variants Cause Neurodevelopmental Disorder with Short Stature: A Clinical Case Series of Eight Individuals. Genes (Basel). 2026; 17(8).

Background: Pathogenic variants in ZNF292 cause intellectual disability type 64 (MIM#619188), characterized by intellectual impairment ranging from mild to severe, speech delay, and autism spectrum disorder. However, reports of ZNF292-related neurodevelopmental disorders remain scarce, and most published studies are based on multi-center cohorts. Methods: We performed whole-exome sequencing in eight unrelated individuals presenting with unexplained neurodevelopmental disorders, including global developmental delay and/or intellectual disability. Detailed clinical characterization, neuroimaging, and developmental assessments were conducted. Results: Seven de novo variants in ZNF292 were identified, including two nonsense and five frameshift variants, namely, c.4189C>T (p.Arg1397Ter), c.6343C>T (p.Arg2115Ter), c.1533del (p.Ile511Metfs*11), c.3094dup (p.Ser1032Phefs*18), c.3997_3998del (p.Thr1333Glnfs*8), c.6028_6031del (p.Ala2010Ter) and c.6160_6161del (p.Glu2054Lysfs*14). Among these, c.1533del (p.Ile511Metfs11), c.3094dup (p.Ser1032Phefs18) and c.3997_3998del (p.Thr1333Glnfs*8) are reported here for the first time. All variants were classified as pathogenic. All individuals exhibited global developmental delay, intellectual disability, and short stature. The majority presented with language impairment, motor delays, autism spectrum features, and dysmorphic facial features, while brain magnetic resonance imaging revealed nonspecific abnormalities such as ventriculomegaly. Conclusions: This study contributes additional cases to the expanding phenotypic and mutational spectrum of ZNF292-related neurodevelopmental disorder. Growth retardation was observed in all eight individuals, but given the limitations of a single-center referral cohort, this observation should be interpreted with caution and requires validation in larger studies.

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42. Solomon M, Yon-Hernández JA, Smith MM, Zheng M, Llorente C, Downing A, Ruder S, Stahmer AC, McGurk SR. Implementing individual placement and support in autistic and other intellectually and developmentally disabled adults: lessons learned in California. Int J Public Health. 2026; 71: 1610040.

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43. Stakhanova A, Zozulya S, Kost N, Voskresenskaya O, Pozdnyakova A, Cheremnykh E, Chaika Y, Semina E. Neuroinflammatory Response to Postnatal Administration of Valproic Acid in Wistar Rats as a Mechanism for the Development of Autism Spectrum Disorders: The Role of Neutrophils. Brain Sci. 2026; 16(8).

Background/Objectives: According to current concepts, neuroinflammation is one of the putative causes of autism spectrum disorders (ASD) development. However, the role of neutrophils in neuroinflammation remains insufficiently studied. The study was aimed to determine the role of neutrophils in the neuroinflammatory mechanism of ASD development based on a comparative analysis of physiological and behavioral disturbances and the inflammatory response to early postnatal administration of valproic acid (VPA) to Wistar rats. Methods: The study was performed on 38 rat pups of both sexes, half of which were injected intraperitoneally with an aqueous solution of VPA at a dose of 150 mg/kg from 6 to 12 postnatal days (PND); control rats received water. Standard physiological and behavioral tests were used: weight monitoring, pain sensitivity (Hot Plate test) on 25 PND, and social behavior (sib/non-sib test) on 55 PND. Neutrophil elastase (NE) and alpha1-proteinase inhibitor (α1-PI) activity in serum and cerebellum homogenate was measured spectrophotometrically. Complement system (CS) activity was analyzed by the death rate of Tetrahymena pyriformis ciliates in the presence of rat serum. Results: Early postnatal administration of VPA to Wistar rats induces physiological and behavioral changes characteristic of ASD, confirming the validity of the experimental model used. These changes are accompanied by increased activity of inflammatory factors (CS, α1-PI, NE) in the rat serum, indicating the development of inflammation. VPA treatment increased NE activity in the cerebellum, which may indicate neutrophil infiltration of the brain and neuroinflammation development. Conclusions: The data obtained indicate the role of neutrophils in neuroinflammatory mechanisms of ASD development.

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44. Su Q, Wong OWH, Lu W, Wan Y, Zhang L, Xu W, Li MKT, Liu C, Cheung CP, Ching JYL, Cheong PK, Leung TF, Chan S, Leung P, Chan FKL, Ng SC. Author Correction: Multikingdom and functional gut microbiota markers for autism spectrum disorder. Nat Microbiol. 2026.

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45. Torun R, Golbasi H, Balci MF, Emiralioglu Cakir Z, Tuncer Can S, Gercik Arzik I, Ankara Aktas H, Toka I, Ekin A, Oztekin O. Fetal Posterior Fossa Anomalies: Diagnosis-Specific Ultrasound-MRI Concordance and Divergent Perinatal Outcomes. Medicina (Kaunas). 2026; 62(8).

Background and Objectives: We aimed to examine the demographic characteristics, prenatal imaging findings, genetic evaluation results, and postnatal outcomes of fetuses with posterior fossa anomalies (PFAs), and also to evaluate the diagnostic concordance between prenatal ultrasonography (USG) and fetal magnetic resonance imaging (MRI). Materials and Methods: This descriptive study analyzed singleton pregnancies referred to Izmir City Hospital and Tepecik Training and Research Hospital for suspected fetal PFA between 2016 and 2024. Data including USG findings, fetal MRI reports, genetic results, and perinatal outcomes were extracted from institutional records. Diagnostic concordance between USG and MRI was statistically assessed using the kappa coefficient. Results: Out of 152 fetuses with suspected PFA on USG, 116 underwent fetal MRI. Following the exclusion of normal MRI findings (n = 23), the final cohort comprised 93 fetuses with confirmed PFA. Mega cisterna magna (MCM) was the most prevalent diagnosis (54.8%), followed by cerebellar hypoplasia (CH) (15.1%) and Dandy-Walker malformation (DWM) (10.8%). A moderate-to-good diagnostic concordance was observed between USG and MRI (kappa = 0.640, p < 0.001). Significant differences were noted across MRI groups regarding gestational age at diagnosis (p < 0.001) and birth weight, which was notably lower in CH compared to MCM (p = 0.004). Clinical outcomes varied significantly by diagnosis (p < 0.001); while 74.5% of MCM cases showed normal development, adverse outcomes predominated in CH and Walker-Warburg syndrome. Conclusions: Fetal PFAs are a heterogeneous group of anomalies with different diagnostic and variable prognostic profiles. Fetal MRI improves anatomical classification and provides clinically significant contributions to prenatal counseling and perinatal management.

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46. Valappil AK, Kim SN. Acupuncture in Autism Spectrum Disorder: A Narrative Review of Neurotransmitter Regulation and Neuroplasticity. Biomedicines. 2026; 14(8).

Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition characterized by impairments in social communication, restricted and repetitive behaviors, sensory dysregulation, and frequent psychiatric comorbidities. Increasing attention has been directed toward acupuncture as a complementary neuro-modulatory intervention; however, its underlying molecular mechanisms remain incompletely understood. This review synthesizes evidence from preclinical, clinical, and molecular studies published between 2015 and 2025 to examine how acupuncture influences neurobiological pathways relevant to ASD. Current evidence indicates that acupuncture modulates multiple neurotransmitter systems, including glutamatergic, GABAergic, dopaminergic, serotonergic, and noradrenergic signaling, while also influencing neurotrophin-mediated plasticity, neuroinflammatory responses, and synaptic function. Studies conducted directly in ASD models demonstrate regulation of excitatory/inhibitory balance, monoaminergic signaling, neurotrophin pathways, and ASD-associated behavioral outcomes, whereas evidence from related neuropsychiatric conditions provides complementary mechanistic support for these pathways. Collectively, the findings suggest that acupuncture may act through coordinated modulation of interconnected neurotransmitter and neuroplasticity networks rather than a single molecular target. However, direct mechanistic evidence in ASD-specific models and clinical populations remains limited, and considerable heterogeneity exists among acupuncture protocols and outcome measures. Future studies integrating standardized stimulation paradigms with molecular, electrophysiological, neuroimaging, and behavioral assessments will be essential to validate the proposed mechanisms and clarify the translational potential of acupuncture in ASD.

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47. Vos S, Van den Broeck R, Ruiz Callejo D, Collignon O, Boets B. Intact Neural and Behavioral Processing of Vocal Emotional Expressions in Men with Autism. Brain Sci. 2026; 16(8).

BACKGROUND/OBJECTIVES: Human voices convey critical socio-affective information, including emotional states. Although autism has frequently been associated with difficulties in processing vocal emotional cues, findings remain inconsistent, particularly in adults. This study investigated neural and behavioral sensitivity to vocal emotion expressions in autistic adults using an objective auditory frequency-tagging EEG paradigm. METHODS: Twenty-five autistic adult men and 25 age- and IQ-matched non-autistic men completed an auditory frequency-tagging EEG task and an auditory and multimodal emotion-recognition assessment. During EEG recording, neutral vocal utterances were presented at 4 Hz, with emotional utterances (fear, anger, happiness, or sadness) inserted every third stimulus, generating an oddball frequency of 1.333 Hz indexing vocal emotion discrimination. RESULTS: No significant group differences were observed in neural or behavioral measures of emotion processing. Robust oddball EEG responses were present in both groups, indicating automatic discrimination of emotional from neutral vocalizations. Fearful and angry vocalizations elicited the strongest neural responses. On the behavioral task, autistic and non-autistic participants showed comparable performance in the auditory modality as well as in the visual and audiovisual modalities, with auditory emotion recognition being the most challenging condition for both groups. CONCLUSIONS: These findings provide converging neural and behavioral evidence for intact vocal emotion processing in autistic adult men and are consistent with the view that socio-affective processing differences may attenuate across development. Auditory frequency-tagging EEG shows promise as a sensitive tool for studying individual differences in socio-affective processing.

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48. Wang B, Vartak R, Hennick KM, Zaltsman Y, Naing ZZC, Polacco BJ, Bashir A, Eckhardt M, Bouhaddou M, Xu J, Sun N, Lasser MC, Zhou Y, McKetney J, Guiley KZ, Gniewek P, Chan U, Amirani N, Griffiths O, Chadha N, Tognatta R, Cakir M, Gordon M, Khare P, Drake S, Drury V, Burke DF, Gonzalez S, Alkhairy S, Thomas R, Lam S, Morris M, Bader E, Dos Santos M, Komarova AV, Bennett M, Ennis C, Castillo O, Lim Y, Martin R, Seyler M, Baum T, Krasnoff R, Wang G, Middya S, Wang S, Pham P, Arbelaez J, Pratt D, Bali S, Chag S, Kaye JA, Mahmood N, Spraggon L, Rolland T, Hervey-Jumper S, Fraser JS, Bourgeron T, Finkbeiner S, Demeret C, Swaney DL, Bandyopadhyay S, Ideker T, Beltrao P, Willsey HR, Hüttenhain R, Obernier K, Nowakowski TJ, State MW, Willsey AJ, Krogan NJ. Autism mutations rewire protein interaction networks to drive neurodevelopmental pathology. Science. 2026; 393(6814): eady4523.

Systematic mapping of protein-protein interaction (PPI) networks and determining how causal mutations rewire them in autism spectrum disorder (ASD) provide a powerful framework for uncovering disease mechanisms and therapeutic opportunities. Using affinity purification-mass spectrometry, we systematically mapped PPIs for 100 high-confidence ASD genes, uncovering more than 1800 interactions. By assessing the impact of pathogenic missense mutations, leveraging AlphaFold, and validating key findings in human-derived model systems, we identified marked convergence onto shared protein complexes in the wild-type state and convergent PPI rewiring driven by independent mutations. For example, distinct patient-derived variants in FOXP1 disrupt its interactions with FOXP4, leading to changes in cortical neurogenesis and neural activity in brain organoids. Overall, these findings link genetic variation to protein networks and convergent neurodevelopmental dysfunction in ASD.

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49. Xin X, Guo Y, Qi Z, Liu Q, Liu L, Ma X. Effects of aquatic exercise on symptoms, behaviors, and motor function in children with autism spectrum disorder: a systematic review and meta-analysis. Front Behav Neurosci. 2026; 20: 1927011.

BACKGROUND: Aquatic exercise combines structured physical activity, sensorimotor training, and social participation, and may be an acceptable adjunctive intervention for children with autism spectrum disorder (ASD). However, existing trials are limited by small samples, heterogeneous outcomes, and complex data structures. OBJECTIVE: To evaluate the effects of aquatic exercise on ASD-related symptoms or behaviors, motor or physical function, autism severity, stereotyped behaviors, social function, and other outcomes in children with ASD. METHODS: Controlled studies comparing structured aquatic exercise with passive or active controls were included. Hedges’ g was calculated using post-intervention values, with positive values favoring aquatic exercise. Random-effects models were fitted using restricted maximum likelihood with Knapp-Hartung confidence intervals. For outcomes with only 2 studies, fixed-effect sensitivity analyses were also reported. Change-score analyses and sensitivity analyses using different pre-post correlation assumptions were performed. Multiple motor outcomes from the same study were combined within study. RESULTS: Six studies involving 159 children were included for overall ASD-related symptoms or behaviors. Aquatic exercise showed a favorable effect compared with control conditions (g = 1.31, 95% CI 0.63-1.99, p = 0.004; I (2) = 45.5%), and the result remained stable in leave-one-out and change-score sensitivity analyses. Four studies involving 119 children were included for broad motor or physical function. The pooled effect favored aquatic exercise but did not reach statistical significance and showed very high heterogeneity (g = 2.35, 95% CI -0.11 to 4.80, p = 0.056; I (2) = 90.2%). After excluding the study with estimated data, the effect decreased to g = 1.60 (95% CI -0.71 to 3.91). CARS/CARS-2, stereotyped behaviors, and social function each included only 2 studies, with unstable model-based inferences. Subgroup analyses did not identify significant differences by control type, intervention duration, or training frequency. CONCLUSION: Aquatic exercise may improve overall ASD-related symptoms or behaviors in children with ASD. Evidence for motor function and other specific outcomes remains limited, heterogeneous, and exploratory. SYSTEMATIC REVIEW REGISTRATION: https://www.crd.york.ac.uk/PROSPERO/, identifier CRD420261436475.

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50. Yang X, Pan R, Yu F, Wu H, Shah NM, Li H. Ocular Nystagmus as the Initial Presenting Feature in a Patient with Complete CLTC Deletion: Expanding the Genotype-Phenotype Spectrum of CLTC-Related Disorder. Genes (Basel). 2026; 17(8).

Background: CLTC-related neurodevelopmental disorder is a rare condition primarily characterized by global developmental delay (GDD) and intellectual disability (ID). To date, approximately 41 cases involving CLTC gene alterations have been reported. We present the first individual with a complete deletion of the CLTC gene. Methods: The proband is a male from a non-consanguineous family, presenting with congenital nystagmus, hypotonia, GDD, and autism spectrum disorder (ASD). Chromosomal microarray analysis and trio exome sequencing were performed. A systematic review of previously reported CLTC variant cases was conducted to delineate the phenotypic spectrum. Results: A de novo 363-kb heterozygous deletion at 17q23.1 spanning the entire CLTC gene was identified. The systematic review confirmed GDD/ID as core features and revealed various ocular abnormalities in a subset of cases. These findings indicate that the clinical phenotype extends beyond neurodevelopment, with multi-system involvement. Conclusions: The phenotypic heterogeneity of CLTC-related disorders underscores the need for comprehensive physical examination to identify extra-neurological manifestations. Accurate diagnosis relies on integrating detailed clinical phenotyping with comprehensive genomic testing. Early, precise diagnosis facilitates multidisciplinary management, informed genetic counseling, and the establishment of long-term surveillance protocols.

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51. Zhang Y, Zhang L. Bridging medicine and education for global developmental delay: a cluster sampling study on screening, diagnosis, and intervention in preschool children. Front Public Health. 2026; 14: 1860897.

BACKGROUND: Global developmental delay (GDD) is a common neurodevelopmental disorder in preschool children. Early screening and integrated intervention are critical for optimal neurodevelopment, yet robust evidence remains limited. METHODS: A non-randomized controlled trial was conducted included 3,216 children aged 3-6 years for three-level GDD screening. Thirty children with confirmed GDD [defined as total General Quotient <70 on the Chinese version of the Griffiths Mental Development Scales (GDS-C)] were allocated to receive 6-month medical-educational integrated intervention or conventional training (exploratory pilot trial); both the overall General Quotient and domain-specific subscale developmental quotients (DQ) were evaluated via GDS-C. RESULTS: The prevalence of GDD was 1.3%, with higher rates in boys and suburban areas. The integrated intervention group showed significantly greater DQ improvements in social, language, eye-hand coordination, visual performance, and practical reasoning domains (all p < 0.05), while no significant difference was observed in gross motor domain. CONCLUSION: A comprehensive multi-component intervention program, encompassing integrated medical-educational components, structured parent training, and home-based intervention measures, yielded preliminary short-term developmental benefits compared with single institutional rehabilitation.

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52. Zhao D, Guo J, Zhang Y, Lan Y, Zhao T, Xu Y, Yang Q, Ye H. Multi-Omic Analysis of Cerebrospinal Fluid Metabolites in Autism Spectrum Disorder: Biomarker Identification, Metabolic Genetics Insights, and Network Toxicology. Genes (Basel). 2026; 17(8).

Background: Although genetic-environmental interactions are established in autism spectrum disorder (ASD), how environmental toxicants confer susceptibility remains unclear. This study aimed to investigate potential relationship between genetically predicted cerebrospinal fluid (CSF), metabolite levels and ASD liability, and to prioritize regulatory genes, key pathways, and candidate environmental toxicants. Methods: Using two ASD GWAS datasets (exploration data: 18,381 ASD cases/27,969 controls; validation data: 18,235 ASD cases/36,741 controls), we applied multi-omics approaches to prioritize ASD-associated CSF metabolites, regulatory SNPs, and genes. Enrichment analysis and protein-protein interaction (PPI) network analysis were performed on these metabolite-related genes to explore the potential mechanisms linking CSF metabolic disturbances to ASD. Finally, candidate environmental neurotoxicants were screened through protein-chemical interaction analysis, with binding relationships assessed via molecular docking prediction. Results: Two-sample Mendelian randomization (MR) analysis prioritized adenine and proline as candidate CSF metabolites with potential risk associations with ASD. Summary-data-based MR (SMR) prioritized 39 brain-specific quantitative trait loci (QTL) involving 35 candidate regulatory genes, including dual-metabolite modulator GRM8. Functional enrichment analyses suggested potential associations with mitochondrial dysfunction, Hippo signaling pathway, and microtubule dynamics impairment, with protein-protein interaction networks highlighting KATNA1/KATNAL2 as hubs. Protein-chemical interaction screening nominated 14 candidate environmental toxicants, including established chemicals (acetaminophen, valproic acid, estradiol) and novel candidates (SB-431542, K 7174, benzo[a]pyrene), with docking affinity assessed computationally. Conclusions: Our study provides suggestive evidence that elevated adenine and proline may be potential risk factors for ASD and suggests possible involvement of the mitochondrial-Hippo-microtubule pathway. We also propose benzo[a]pyrene as a candidate environmental toxicant that may perturb CSF metabolism. However, given the limited statistical significance, these findings require further validation.

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