1. Ahmad F, Sandal S, Correa A, Krishna M, Sabnavis S, Kulsum S, Shah A, Angi M, Chaudhary P, Chaudhary S, Arora N. A novel NMD-escaping STAG2 variant associated with syndromic neurodevelopmental delay, growth failure, and distinctive dysmorphism: expanding the phenotype in male patients and literature review. Gene;2026 (May 15);991:150054.

We report an 8-year-old male from a consanguineous union presenting with global developmental delay, microcephaly, failure to thrive, and distinctive dysmorphic features (dolichocephaly, triangular face, malar flattening). His elder brother shared similar clinical and dysmorphic findings. The pattern of inheritance within the family (affected male siblings, subtle dysmorphism in mother and consanguinity) prompted consideration of both autosomal recessive and X-linked modes of inheritance. Whole exome sequencing (WES) identified a novel hemizygous STAG2 frameshift variant (NM_001042750.2: c.3688_3689del; p.(Thr1230Hisfs*20)) in both brothers, inherited maternally. The variant is predicted to escape nonsense-mediated decay (NMD), potentially explaining survival, as complete STAG2 loss of function mutations in hemizygous males are most often embryonic lethal. This represents the first report of NMD-escaping STAG2 truncation in living males, expanding the mutational spectrum of STAG2-related disorders. The findings underscore the importance of considering hypomorphic STAG2 variants in males with syndromic neurodevelopmental delay and dysmorphism.

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2. Akbaş B, Akbaş A, Hacım NA, Ercan G, Aygün H, Erdoğan MA, Uyanıkgil Y, Erbaş O. Prenatal Indomethacin Exposure Is Associated With Autism-Relevant Behavioral Alterations Linked to Oxidative Stress and Altered Autophagy-Related Signaling. Dev Neurobiol;2026 (Jul);86(3):e70041.

Autism spectrum disorder (ASD) arises from interactions between genetic predisposition and prenatal environmental insults. Prostaglandin E(2) (PGE(2)), derived from cyclooxygenase-2 (COX-2), regulates neuronal differentiation and glia-neuron signaling; thus, its inhibition during gestation may impair neurodevelopment. To examine whether prenatal exposure to indomethacin, a non-selective COX inhibitor, induces autism-like alterations in rats with possible sex differences. Sixteen pregnant Wistar rats received indomethacin (1 mg/kg, gavage) on Gestational Days 10-14. Adult offspring (P50-P54) underwent behavioral tests (open-field, rearing, rotarod, and three-chamber sociability). Hippocampal and cerebellar tissues were analyzed for PGE(2), LC3B (ELISA), MDA (TBARS), neuronal density, and GFAP expression (CA1, CA3 – Nissl, GFAP staining). Indomethacin reduced sociability, exploration, and motor performance, especially in males, and decreased PGE(2) and LC3B while increasing MDA (p < 0.001). Histologically, CA1 neuronal counts increased while GFAP immunoreactivity was markedly elevated in hippocampal (CA1 and CA3) and cerebellar regions (p < 0.05), reflecting astroglial activation and neuroinflammatory remodeling. Prenatal inhibition of prostaglandin synthesis may disturb PGE(2) signaling, leading to oxidative stress, altered autophagy-related signaling, and glial activation, which together contribute to ASD-relevant behavioral outcomes.

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3. Al Qutub R, Luo Z, Essah E, Tavassoli T, Marcham H, Deng Q. Impact of indoor environment quality on autistic behaviours in autism schools of Saudi Arabia. Environ Pollut;2026 (May 15);397:127992.

Indoor Environmental Quality (IEQ) strongly influences students’ learning outcomes, yet its impact on autistic students remains underexplored. This study investigates the relationship between IEQ parameters and behavioural outcomes of 37 autistic students (DSM-5 Levels 1-2) aged 5-12 years attending two autism-specific schools in Saudi Arabia across winter and summer periods. IEQ parameters – temperature, relative humidity, carbon dioxide (CO(2)), particulate matter (PM(2).(5) and PM(10)), sound level, and illuminance – were continuously monitored, alongside behavioural observations. Behaviour and sensory reactivity were assessed using the Behavioural Assessment of Classroom Sensory Scale-School Observation System (BASC-SOS) and the Sensory Assessment for Neurodevelopmental Disorders (SAND), which capture external behaviours (movement, vocalisation, and task engagement). Repeated measures correlation analysis revealed significant relationships between PM(10) concentration and both adaptive (p = 0.04) and maladaptive behaviours (p = 0.05), sound levels and maladaptive behaviours (p = 0.05), and relative humidity and adaptive behaviours (p = 0.03). CO(2) levels in hypersensitive autistic students and both adaptive (p = 0.05) and maladaptive behaviours (p = 0.01). Pupils demonstrated heightened sensitivity to elevated CO(2) and noise fluctuations, highlighting the compounded sensory effects of air quality and acoustics. These findings underscore the need to tailor environmental conditions in autism-specific educational settings to accommodate the sensory reactivity of autistic students. The study not only advances foundational knowledge of IEQ’s impact on autistic behaviour but also offers practical implications for designing educational environments that foster both academic engagement and student s’ well-being.

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4. Alò R, Olivito I, Minervini D, Avolio E, De Bartolo A, Perrotta I, Cerra MC, Angelone T, Rocca C, Facciolo RM. Ketogenic diet improves motor and anxiety-like behaviors plus cerebellar inflammation via axonal remyelination in the BTBR mouse model of autism. J Nutr Biochem;2026 (May 15):110417.

BACKGROUND: Different evidence suggests that ketogenic diet (KD) ameliorates neurological disfunctions including core symptoms of autism spectrum disorders (ASD). In view of this, we have hypothesized that KD may induce a positive effect even on some ASD comorbidities, such as motor impairment and anxiety, along with cerebellar inflammation and axonal demyelination. METHODS: BTBR T+ Itpr3tf/J (BTBR) and C57BL/6 (C57) mice were fed with a standard chow diet (CD) or KD for 5 weeks. Modified Beam Walking (MBW) and Open Field (OFT) tests were used to examine locomotor activity and anxiety-related behaviors. At the same time, cerebellar pro-inflammatory cytokines TNF-α, IL-1β and IL-6 were evaluated together with g-ratio of myelinated axons, detected by TEM. The levels of different isoforms of the myelin basic protein (21.5, 18.5/17- and 14 kDa MBP) were also analyzed. RESULTS: As expected, KD improved motor deficits and anxiety in BTBR mice as displayed by significant increases (p<0.001) in the number of peeking and laps during MBW test rather than BTBR treated with CD. Furthermore, reduced path speed and enhanced path length (p<0.001) in OFT were reported for the same KD-fed mice strain. Contextually, some pro-inflammatory cytokines (TNF-α and IL-1β) were significantly (p<0.05) reduced in the cerebellum of BTBRs exposed to KD. Such ameliorations were correlated to a reduction of g-ratio (p<0.001), together with an upregulation (p<0.05) of the MBP isoform 18.5/17-kDa. CONCLUSIONS: Overall, these findings support a promyelinating and anti-inflammatory action of KD, which very likely determined mitigation of motor disorder and anxiety-like behaviors.

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5. Aquino M, Mariano SPS, Monteiro FPM, Morais HCC, Freire V, Lima MNQ, Sousa QL. Delayed infant development: content analysis of a nursing diagnosis proposal. Rev Esc Enferm USP;2026;60:e20250400.

OBJECTIVE: To analyze the content of the nursing diagnosis « Delayed infant development. » METHOD: Methodological study addressing the content analysis phase, using a mixed approach. The first stage was a quantitative agreement study; the second was a qualitative consensus study. Both stages were carried out with proficient individuals. For analysis, the Binomial test was used, with a p value equal to or greater than 0.05 and a cutoff point of 0.85. The level of significance adopted was 5%. RESULTS: The proposed diagnosis obtained high agreement among the judges regarding its structure (title, definition, defining characteristics, related factors, at-risk populations, and associated conditions), with more than 85% approval. Some characteristics were reformulated to align with NANDA-I, improving clarity and clinical applicability. CONCLUSION: The content validity was satisfactory, proving to be relevant, clear, and applicable to nursing practice. Its adoption may favor the early detection of delays in child development and support multidisciplinary interventions, especially in vulnerable contexts.

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6. Ceyhun AT. Receptive language processing in children with Autism Spectrum Disorder: evidence from eye-tracking measures. Dev Neurorehabil;2026 (May 15):1-9.

BACKGROUND: Receptive language difficulties are common in children with Autism Spectrum Disorder (ASD) and may reflect differences in underlying attentional and processing mechanisms rather than linguistic impairments alone. Visual attention plays a central role in guiding children toward linguistically relevant stimuli during language comprehension. Eye-tracking offers a noninvasive method to examine real-time visual attention; however, its association with standardized receptive language performance in children with ASD remains insufficiently understood. METHODS: This cross-sectional study included 33 children aged 4;0-7;11 years, comprising 16 children with ASD and 17 typically developing (TD) peers. Receptive language abilities were assessed using the receptive subtest of the Turkish Early Language Development Test (TEDİL). Visual attention during receptive language tasks was measured using a remote eye-tracking system. Eye-tracking indices included target looking proportion, time to first fixation on the target, and target fixation duration. Group differences were examined using analyses of covariance controlling for age. Within the ASD group, correlations and multiple linear regression analyses were conducted to examine associations between eye-tracking measures and receptive language performance. RESULTS: Children with ASD demonstrated significantly lower target looking proportions, longer latencies to first fixation, and shorter target fixation durations compared to TD peers. Within the ASD group, higher receptive language scores were significantly associated with greater target looking proportion and shorter time to first fixation. Regression analyses indicated that target looking proportion explained additional variance in receptive language performance beyond chronological age. CONCLUSIONS: Findings suggest that less efficient visual attention is associated with receptive language difficulties in children with ASD. Eye-tracking provides process-level information that complements standardized assessments by capturing attentional dynamics during language comprehension. Integrating eye-tracking measures into language assessment may support more sensitive identification of processing differences and inform targeted intervention approaches for children with ASD.

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7. Chan JKN, Zhong AHF, Lam JYH, Wong CSM, Solmi M, Correll CU, Chang WC. Maternal and paternal antidepressant use before and during pregnancy and offspring risk of neurodevelopmental disorders: a systematic review and meta-analysis. Lancet Psychiatry;2026 (Jun);13(6):472-484.

BACKGROUND: The potential risk of neurodevelopmental disorders following prenatal antidepressant exposure is concerning. Meta-analyses conducted in the past decade have had small study numbers and insufficient assessment of confounding by treatment indication. We aimed to synthesise risk of neurodevelopmental disorders, including ADHD and autism spectrum disorder (ASD), with antidepressant exposure before or during pregnancy in mothers and fathers, accounting for antidepressant classes, agents, dose, and confounding. METHODS: In this systematic review and meta-analysis, we searched Embase, MEDLINE, PsycINFO, and Web of Science from database inception to May 14, 2025, for studies that included mothers or fathers with antidepressant use before or during the pregnancy period and that reported data on neurodevelopmental disorders. Relative risks (RRs) were pooled using random-effect meta-analyses. We assessed publication bias, subgroup analyses, and quality assessment (Newcastle-Ottawa scale). No people with relevant lived experience were involved in the research and writing process. Only two studies reported ethnicity data. This study is registered with PROSPERO (CRD420251052595). FINDINGS: We identified 37 studies involving 648 626 antidepressant-exposed and 24 967 806 unexposed pregnancies (weighted average mean age 28·8 years, range 28·5-32·3). Prenatal antidepressant use was associated with a modestly increased risk of neurodevelopmental disorders in offspring (RR 1·13, 95% CI 1·08-1·18; k=2; I(2)=64·9%; p=0·051), including ADHD (1·35, 1·24-1·47; k=14; I(2)=90·2%; p<0·0001) and ASD (1·69, 1·24-2·30; k=25; I(2)=98·1%; p<0·0001), but not intellectual disabilities, motor disorders, or speech and language disorders. No significant difference in ASD risk was found between high-dose and low-dose exposure, and paternal antidepressant use around conception was not linked to ASD. Both SSRI and non-SSRI antidepressants exhibited increased risk for ADHD (SSRI 1·35, 1·20-1·51; k=11; I(2)=87·3%; p<0·0001; non-SSRI 1·41, 1·33-1·50; k=3; I(2)=0%; p=0·35) and ASD (SSRI 1·52, 1·39-1·65; k=21; I(2)=55·6%; p<0·0001; non-SSRI 1·19, 1·03-1·45; k=4; I(2)=0%; p=0·38). Notably, similar associations were found for pre-conception exposure. Observed associations were attenuated or became non-significant in sensitivity analyses accounting for confounding factors, such as maternal mental disorders, familial or genetic influences, and misclassification. Paternal antidepressant use during pregnancy served as a negative control and was associated with increased ADHD risk (1·46, 1·38-1·56; k=2; I(2)=25·3%; p=0·24) and ASD risk (1·28, 1·16-1·40; k=6; I(2)=35·0%; p=0·20). When confounding by indication was minimised, only amitriptyline and nortriptyline were associated with increased risk of ADHD (amitriptyline 1·74, 1·00-3·03) or ASD (amitriptyline and nortriptyline 2·02, 1·32-3·10), whereas no significant associations were found for specific SSRIs or SNRIs. The certainty of evidence was low to very low. INTERPRETATION: This systematic review and meta-analysis indicated a small association between antidepressants and ADHD or ASD, which was attenuated or became non-significant after adjusting for confounding factors. Antidepressant treatment should be continued for pregnant women with moderate-to-severe depression. Optimising both maternal and paternal mental health is essential for the child's long-term neurodevelopment. FUNDING: None.

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8. Christian P, Löfström R, Guterstam A. Dissociation between implicit and explicit gaze perception and their metacognitive representations scales with the degree of autistic traits. iScience;2026 (May 15);29(5):115602.

Gaze perception is crucial for inferring others’ attentional state. However, it remains understudied whether implicit (automatic) and explicit (deliberate) gaze perception rely on distinct underlying mechanisms and whether these are affected by autistic traits. We used the same real-life images with an actor being surrounded by objects for two separate tasks: Participants either identified the object the actor was gazing at (explicit task) or were instructed to detect a cued object, with the actor’s gaze being task-irrelevant (implicit task). Our findings demonstrate that implicit and explicit gaze perception rely on dissociable mechanisms, as implicit, but not explicit, attentional shifts, are driven by subtle social cues. Autistic traits selectively affected explicit inference of others’ attentional state as well as the metacognitive representation of these challenges, while implicit gaze perception remained intact. Our findings advance our understanding of the distinct mechanisms underlying gaze perception, which are distinctly affected by autistic traits.

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9. Conner CM, Yu L, Zeglen KN, Pilkonis PA, Mazefsky CA. The emotion dysregulation inventory – self-report: development and psychometric evaluation. Psychol Med;2026 (May 15);56:e155.

BACKGROUND: Emotion dysregulation is a transdiagnostic construct associated with multiple mental health conditions and shown to be an amenable target for treatment. The original Emotion Dysregulation Inventory (EDI) was created as a proxy-report measure validated in autistic and nonautistic youth. The goal of the current study was to develop a self-report version, the EDI-Self-Report (EDI-SR), that captures a first-person perspective and creates the option of multi-reporter measurement from adolescence through adulthood. METHODS: Using methods developed by the Patient-Reported Outcomes Measurement Information System (PROMIS), potential items and response options were written and tested in cognitive interviews. Two samples (996 participants who are autistic or have other intellectual and developmental disabilities and 1,000 participants selected to be representative of the US census as a nonclinical comparison group) completed the initial item pool. Items were assessed using exploratory and confirmatory factor analyses, item response theory analyses, concurrent calibrations, convergent correlations with comparable legacy measures, internal consistency reliability, and test-retest reliability. RESULTS: Exploratory factor analyses suggested splitting Reactivity and Dysphoria items for confirmatory factor analyses and subsequent analyses. Following analyses, a 25-item Reactivity scale, a 7-item Dysphoria scale, and a 6-item Reactivity short-form scale were finalized. EDI-SR subscales showed convergent validity and superior total information when compared with similar measures, strong internal consistency reliability, and good test-retest reliability. CONCLUSIONS: The EDI-SR provides an efficient, precise measure of ED in autistic individuals, individuals with other intellectual and developmental disabilities, and a US census-matched representative sample, and allows for multi-reporter assessment in clinical and research contexts.

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10. Deakin M, Hamilton LG, Heasman B, Petty S. Fit-for-purpose Psychological Interventions to Support the Well-Being of Autistic Adults: A Systematic Review. Autism Dev Lang Impair;2026 (Jan-Dec);11:23969415261436238.

BACKGROUND AND AIMS: There are high levels of co-occurring mental health diagnoses reported for autistic adults, yet research into psychological interventions that support wellbeing is only just emerging. This mixed-methods systematic review characterized all available psychological interventions for autistic adults, the measures used to evaluate their effectiveness, the extent to which the interventions have been designed or adapted for autistic people, and the elements theorized to contribute to wellbeing. METHODS: A protocol was registered with PROSPERO (CRD42023385232) before commencement. The review used Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. A Patient and Public Involvement process sought input from an expert panel of autistic counselors who work with autistic people to develop the search strategy. All study designs were included in the review to meet the objective of summarizing the available evidence since 2012, the point at which National Institute for Health and Care Excellence introduced Clinical Guidelines for working with autistic adults in the United Kingdom. Screening was performed on 100% of the records by two independent reviewers. Risks of bias that can occur in autism research specifically were assessed. Quality appraisal was undertaken using the Quality Assessment Tool for Studies with Diverse Designs. Mixed-methods and qualitative syntheses were used to summarize the findings. MAIN CONTRIBUTION: A total of 4,186 papers were identified from the literature search, resulting in 69 papers meeting the criteria for inclusion. The majority (n = 42) were pilot or exploratory designs. Few studies identified how adaptations to existing therapeutic interventions affected wellbeing outcomes. Similarly, few studies described the theorized mechanisms of change in reported wellbeing or designed interventions specifically for autistic people. CONCLUSIONS: There are few empirical studies of psychological interventions for autistic adults, and imprecise definitions of what wellbeing means for autistic people demonstrate conceptual and methodological ambiguity. Further discussion to agree community-based prioritization of the relevance of mental health outcomes is required. A minority of studies (n = 29) used outcome measures designed for, or standardized with, autistic people. The most common therapeutic interventions were based on mindfulness or cognitive-behavioral therapies, suggesting limited choice of evidence-based psychological interventions for autistic people and practitioners. IMPLICATIONS: Research into improving the wellbeing of autistic adults is still at an early stage of development, principally focused on assessing the feasibility of interventions. Current intervention studies are reliant on outcome measures with unknown suitability to evaluate meaningful change for autistic adults. This review provides an essential point of reference for clinical researchers and practising clinicians. A list of outcome measures that have been validated for use with autistic people is shared as a finding. The findings add to literature advocating for neurodiversity-affirmative clinical and research practices, which incorporate autistic phenomenology and recommend a critical approach towards psychological interventions.

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11. Ellis CL, Ahmad J, Zoumpoulaki A, Dimitrov M, Velthuis HE, Pereira AC, Wong NML, Ponteduro MF, Kowalewski L, Leonard A, Garces P, Huang Q, Daly E, Murphy DGM, McAlonan GM. Dynamic excitatory-inhibitory differences in autistic and non-autistic adults: Evidence from a pharmacological challenge with arbaclofen. J Psychopharmacol;2026 (May 15):2698811261449378.

BACKGROUND: Brain function is the dynamic output of coordinated excitatory and inhibitory (E-I) activity. E-I alterations, arising from differences in excitatory glutamate and inhibitory GABA pathways, are implicated in the development and heterogeneity of autism, and are consequently targets for pharmacological support options. Existing tools, such as Magnetic Resonance Spectroscopy, are limited in capturing the dynamic nature of E-I regulation. The aperiodic 1/f exponent of the EEG power spectrum has shown sensitivity to E-I perturbations in animals and neurotypical humans, but its applicability to neurodiverse populations remains underexplored. METHODS: Therefore, as proof-of-concept, this study tested the hypotheses that (i) the aperiodic 1/f exponent of resting-state EEG changes following a pharmacological E-I challenge with arbaclofen (STX209), a GABAB receptor agonist; and (ii) dynamic responsivity to GABAergic challenge is different in autism. Participants were 40 adults, 15 autistic. EEG was recorded at rest after randomised, double-blind administration of a placebo, 15 mg of arbaclofen, and 30 mg of arbaclofen. Aperiodic 1/f exponents were extracted. RESULTS: As predicted, in both groups the aperiodic 1/f exponent significantly increased following a high (30 mg) dose of arbaclofen, replicating the effect observed in animals. Furthermore, a lower (15 mg) dose showed a different response pattern across groups, with aperiodic exponents tending to increase in autistic individuals but decrease in non-autistic individuals, suggesting differences in GABAergic responsivity. CONCLUSIONS: These findings support the aperiodic 1/f exponent as a metric for dynamic E-I regulation and provide preliminary evidence of distinct homeostatic E-I dynamics in autism.

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12. Horien C, Mandino F, Greene AS, Shen X, Powell K, Vernetti A, O’Connor D, Adkinson BD, Tejavibulya L, McPartland JC, Volkmar FR, Chun M, Chawarska K, Lake EMR, Rosenberg MD, Satterthwaite T, Scheinost D, Finn ES, Constable RT. Optimizing functional connectivity scanning conditions for predicting autistic traits. Nat Ment Health;2026;4(5):792-805.

Autism is a heterogeneous condition, and functional magnetic resonance imaging-based studies have advanced understanding of neurobiological correlates of autistic features. Little work has focused on the optimal brain states to reveal brain-phenotype relationships. Here, using connectome-based predictive modeling, we interrogated four datasets to determine scanning conditions that boost prediction of clinically relevant phenotypes and assess generalizability. In dataset one, a sample of youth with autism and neurotypical participants (n = 63), we found that a sustained attention task resulted in high prediction performance of autistic traits compared with a free-viewing social attention task and a resting-state condition. In dataset two (n = 25), we observed the predictive network model of autistic traits generated from the sustained attention task generalized to predict measures of attention in neurotypical adults. In datasets three and four, we determined the same predictive network model further generalized to predict measures of social responsiveness in the Autism Brain Imaging Data Exchange (n = 229) and the Healthy Brain Network (n = 643). Our data suggest an in-scanner sustained attention challenge can help delineate robust markers of autistic traits.

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13. Huang Y, Huang F, Wang Y, Chang X, Guo S, Chen Y, Wang M, Liu K, Liu X, Fang X. Classification of autism spectrum disorder using a directional graph attention network on brain effective connectivity. Psychiatry Res Neuroimaging;2026 (May 15);361:112249.

Recent research into the neural mechanisms underlying autism spectrum increasingly relies on brain network analysis; however, conventional models remain limited in their ability to capture directed causal interactions between brain regions. To address this limitation, we propose a directional graph attention network (DGAT) as a proof-of-concept framework for autism classification using directed effective connectivity. DGAT takes Granger causality matrices as input and employs a dual-branch attention architecture to model incoming and outgoing information flows separately, then adaptively fuses the resulting bidirectional embeddings through learnable weights to more explicitly characterize driver-response relationships between regions. In addition, the model incorporates multiscale node descriptors, including temporal statistics, graph-theoretic centrality measures, and global graph metrics, to enhance representational capacity. Under nested cross-validation, DGAT achieved competitive performance on key metrics (accuracy: 71.99%, AUC: 75.15%, specificity: 73.07%) and produced more favorable results than support vector machines, random forests, graph convolutional networks, and GAT based on undirected functional connectivity. These findings suggest that DGAT may serve as a promising exploratory framework and offer a novel perspective for disease classification based on directed brain networks.

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14. Kahveci G. Redefining Peer Tutoring: Academic and Social Gains Through Twice-Exceptional Student Leadership. Int J Dev Neurosci;2026 (May);86(3):e70139.

This study explored the dual effects-both academic and social-of a peer tutoring framework where a twice-exceptional student with autism spectrum disorder (2e-ASD) served as a tutor for three students with learning disabilities (LDs). The goal was to assess whether peer-mediated instruction could improve tutees’ reading accuracy while fostering tutors’ social development. Using a multiple baseline design across participants, with a numerous probe structure, ensured rigorous methodology and intervention fidelity. Reading accuracy was systematically monitored across phases, and social validity feedback from parents and educators offered insights into perceived academic and social outcomes. The results showed significant, sustained improvements in reading accuracy for all students with LD following the peer tutoring intervention. At the same time, qualitative feedback highlighted notable enhancements in the tutor’s social engagement, communication and self-confidence. Stakeholders observed that the tutoring structure promoted positive peer relationships and increased classroom participation. These findings highlight the mutual benefits of peer tutoring, especially when the strengths of twice-exceptional learners are deliberately incorporated into instructional design. The research adds to growing evidence supporting inclusive, strength-based peer learning models. By demonstrating that peer tutoring can enhance multidimensional learning outcomes, this study presents a scalable instructional approach with practical implications for special education, collaborative learning and teacher training. The findings encourage wider adoption of peer-mediated frameworks that acknowledge and utilize diverse learner profiles.

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15. Kalay I, Karaer K, Oguz S, Durmusalioglu EA, Yıldız EK, Bedel FM, Mardan L, Atik T. Expanding the Neurodevelopmental Spectrum of Xia-Gibbs Syndrome: New Clinical Entities and Novel Variants From a Turkish Cohort. Dev Neurobiol;2026 (Jul);86(3):e70036.

Xia-Gibbs syndrome (XGS) is a rare neurodevelopmental disorder caused by heterozygous variants in the AHDC1 gene. While the core phenotype includes developmental delay, hypotonia, and expressive language impairment, the syndrome displays considerable clinical and genetic heterogeneity. Data from non-European populations remain scarce. We report the clinical and molecular findings of five unrelated Turkish patients with XGS diagnosed via whole-exome sequencing (WES). This is a multicenter study, and clinical data were collected from participating centers using standardized forms. All patients carried heterozygous, de novo AHDC1 variants (three frameshift, two nonsense), all of which were classified as pathogenic or likely pathogenic. Three of these, p.(Ala1432Profs13), p.(Val900Glyfs2), and p.(Val704Profs*26), are novel and predicted to cause protein truncation. Nonsense mutations are p.(Arg108*) and p.(Trp638*), which were previously reported as disease-causing. One patient had dual diagnoses with AHDC1 and CDK13 variants, explaining ocular and cardiac anomalies, leading to a particularly severe neurodevelopmental phenotype. This is the largest study reported to date in Turkey on XGS, a rare genetic disorder, further expanding the disease’s genotypic and phenotypic spectrum. Recognition of dual diagnoses in a single patient underscores the value of WES in detecting complex genotypes and avoiding misattributed genotype-phenotype associations. As a recently described syndrome, careful evaluation of patients with XGS for atypical phenotypes may provide important contributions to the clinical presentation described in the literature.

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16. Kapp SK. The neurodiversity movement vs. the medical model of autism. World Psychiatry;2026 (Jun);25(2):322-323.

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17. Laurén K, Järvelä M, Huotari N, Raitamaa L, Kananen J, Tuunanen J, Väyrynen T, Korhonen V, Hautamäki K, Hurtig T, Mattila ML, Jussila K, Kiviniemi V. Increased intracranial very low frequency pulsation power in central brain regions of high-functioning young adults with autism spectrum disorder. Neuroimage;2026 (May 15);332:121908.

Autism spectrum disorder (ASD) is an increasingly diagnosed neurodevelopmental condition characterized by persistent difficulties in social communication and restricted, repetitive patterns of behavior and sensory processing that leads to functional impairment. The diagnosis of ASD relies on behavioral and clinical assessment as there are no currently available biomarkers. Recent brain imaging studies have suggested abnormalities in the brain fluid flow in individuals with ASD. Cardiorespiratory and vasomotion-induced very low frequency (VLF ≤ 0.1 Hz) brain pulsations are now considered to facilitate the cerebrospinal- and interstitial fluid exchange in the brain, thus contributing to maintaining cerebral homeostasis and fluid clearance. In this study, we utilized ultrafast resting-state functional magnetic resonance imaging (fMRI) to capture and compare the powers of each physiological pulsation in groups of 18 young adults diagnosed with ASD and 19 neurotypical controls (NTC). We further probed the clinical significance of findings by undertaking regression analyses examining the associations of both Autism Spectrum Quotient (AQ) and Autism Diagnostic Observation Schedule (ADOS) scores with pulsation powers, and by receiver operating characteristics (ROC) analysis. Compared to the NTC group, the ASD group showed significantly higher VLF pulsation power, which was located predominantly in subcortical grey matter nuclei and the white matter, indicating increased vasomotor power in ASD. In addition, the individual VLF power enabled good accuracy (ROC area under the curve = 75%-93%) for discriminating ASD subjects from NTCs. In conclusion, present findings of increased VLF power are postulated as possible indication of altered driving force of cerebral neurofluid dynamics and could potentially serve as a useful clinical classifier.

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18. Liao W, Antonioni K, Silvestri F, Piemontese M, Bodria M, Daini E, Persico AM, Zoli M, Grabrucker AM, Vilella A. Unveiling the Molecular Mechanism of Intestinal Metabolite para-Cresol in Modulating Neuroinflammation and Synaptic Dysfunction: Implications for Autism Spectrum Disorder. J Neurochem;2026 (May);170(5):e70457.

Autism spectrum disorder (ASD) is a diverse group of neurodevelopmental disorders that share similar behavioral patterns. Many individuals with ASD also exhibit gastrointestinal disturbances, likely linked to alterations in the composition and activity of intestinal bacteria, resulting in the overproduction and release of toxic metabolites into the systemic circulation. These toxins may reach the central nervous system (CNS) and activate microglia, which release inflammatory cytokines, ultimately impairing neuronal function. This microbiota-gut-brain axis has been suggested to play a crucial role in the pathogenesis of ASD. Para-cresol (p-Cresol) is one of these intestinal metabolites and could potentially contribute to ASD, as its urinary levels are elevated in autistic children under the age of 8 and correlate with symptom severity. Here, we aim to investigate the effect of p-Cresol on various brain-cell types to speculate on their specific contributions to ASD-related synaptic dysfunctions. Immunocytochemistry assays revealed a significant decrease in excitatory (vesicular glutamate transporter VGLUT, postsynaptic density protein 95 PSD95) and inhibitory (vesicular GABA transporter VGAT) synaptic markers in p-Cresol-treated neurons during synaptogenesis. These effects were exacerbated in SH3 and multiple ankyrin repeat domains 3 (Shank3) knockdown neurons, which exhibit increased susceptibility of their synapses. p-Cresol also induced a dose-dependent inflammatory response in both astrocytes and microglia, characterized by the overexpression and release of inflammatory cytokines and chemokines such as interleukin 6 (IL6), interleukin 1β (IL1β), and C-C- motif chemokine ligand 3 (CCL3). Our results suggest that p-Cresol exerts cell-specific effects on astrocytes and microglia, and the release of inflammatory cytokines and chemokines in response to p-Cresol treatment may contribute to synaptic dysfunction, in addition to its direct effect on neurons.

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19. Martino ML, Vela L, Quitadamo M. The long-term psychological processing of an autism spectrum disorder diagnosis in parents. Front Psychiatry;2026;17:1782789.

INTRODUCTION: A child’s ASD diagnosis represents a critical event for parents, often requiring them to face the loss of their child’s ideal image and reevaluate the family life projects. The aim of this study is to explore how parents retrospectively reconstruct and integrate their child’s ASD diagnosis through autobiographical memories. METHODS: 21 parents, 16 mothers and 5 fathers, that received the ASD diagnosis within five years, were administered the Reaction to Diagnosis Interview (RDI). Interviews were audio-recorded, transcribed verbatim and analyzed using a two levels approach. The first one to explore the patterns of meanings that emerged in the whole parents’ autobiographical memories through the Reflexive Thematic Analysis. The second one is to identify patterns of resolution or non-resolution of the impact of the diagnosis. RESULTS: Findings show suffering and struggling as main themes and subthemes and a prevalence of unresolved diagnoses; gender differences in the way of managing the child-related care tasks, efforts, and coping strategies emerged. DISCUSSION: In line with literature, our findings suggest that the availability of supportive resources plays a crucial role in facilitating parents’ adjustment and integration of the ASD experience and harmonizing gender differences. They also emphasize that the impact of ASD diagnosis is not a single event but an ongoing process of meaning-making which changes with the child’s developmental path. Our findings highlight the need for cognitive and emotional reconstruction and reframing of parents’ autobiographical memories. These processes play a kay role in shaping how the diagnosis experience is integrated into one’s narrative identity, creating opportunities for transforming the meaning of the remembered experience.

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20. Mullin LJ, Xia K, Wang J, Lee CM, Buscher TG, Lasch C, Burrows CA, Elison JT, Shen MD, Dager SR, Estes AM, Hazlett HC, Marrus N, Pandey J, Schultz RT, St John T, Zwaigenbaum L, Constantino JN, Piven J, Girault JB. Subclinical neuropsychiatric trait variation in parents of children with autism spectrum disorder: a cohort study. Mol Autism;2026 (May 15)

BACKGROUND: Many neuropsychiatric conditions share overlapping features underpinned by shared genetics. In this study, we examined the co-aggregation of sub-threshold variation in neuropsychiatric phenotypes in biological parents of autistic children to provide insights into the intergenerational transmission of genetic liability for autism. METHODS: Autistic, neuropsychiatric (i.e., anxiety, depression, ADHD), and cognitive traits were characterized in biological parents of children enrolled in a longitudinal developmental study: 189 families of autistic children and 100 families with no autistic children were included. Families were further characterized as having only one (simplex) or more than one (multiplex) autistic child. Maternal and paternal traits were compared across groups using analysis of variance. Between-parent and within-parent correlations across trait domains examined patterns of familial trait aggregation and assessed shared versus unique contributions to the inheritance of autism. Logistic regression assessed the predictive utility of parental traits for simplex vs. multiplex group membership. RESULTS: Mean levels of paternal autistic traits (F(2, 224) = 5.67, FDR-adjusted p-value (q) = 0.013) and maternal anxious (F(2, 262) = 11.14, q < 0.001) and depressive (F(2, 262) = 7.08, q = 0.005) traits differed between groups. Post-hoc tests revealed elevated autistic traits in multiplex fathers (q = 0.009) and elevated anxious (q < 0.001) and depressive (q = 0.004) traits in multiplex mothers compared to parents of non-autistic children; simplex parents did not differ from either of the other groups. Parental traits jointly accounted for 7.9% of autism recurrence liability in multiplex families. Elevations in autistic traits co-occur with elevations in neuropsychiatric traits in simplex parents (0.35 ≤ r ≤ 0.43) but were uncorrelated in multiplex parents. LIMITATIONS: Findings from this study may not generalize to more heterogeneous samples with differing racial, ethnic, and socioeconomic demographics. Exclusionary criteria for the original study may result in families with a lower trait burden for psychiatric disorders than the broader population of parents of autistic children. CONCLUSIONS: Results highlight unique patterns of autistic, anxious, and depressive trait presentation and aggregation in multiplex parents. Findings call for a transdiagnostic approach to quantifying genetic liability in families with autistic children.

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21. Pagani M, Zerbi V, Gini S, Alvino FG, Banerjee A, Barberis A, Basson MA, Bozzi Y, Galbusera A, Ellegood J, Fagiolini M, Lerch JP, Matteoli M, Montani C, Pozzi D, Provenzano G, Scattoni ML, Wenderoth N, Xu T, Lombardo MV, Milham MP, Di Martino A, Gozzi A. Autism subtypes identified using cross-species functional connectivity analyses. Nat Neurosci;2026 (May 15)

It is often assumed that phenotypic heterogeneity in autism reflects underlying pathobiological variation. However, direct evidence supporting this link is lacking. Leveraging cross-species functional neuroimaging, we show that brain dysconnectivity patterns in autism can be parsed into biologically dissociable subtypes. Specifically, we found that functional magnetic resonance imaging (fMRI) connectivity alterations in 20 distinct genetic mouse models of autism cluster into hypoconnectivity-dominant and hyperconnectivity-dominant subtypes. These subtypes are linked to distinct biological pathways, with hypoconnectivity being associated with synaptic dysfunction and hyperconnectivity reflecting transcriptional and immune-related alterations. Here we identified analogous hypoconnectivity and hyperconnectivity subtypes in a multicenter human fMRI dataset of n = 940 individuals with idiopathic autism and n = 1,036 neurotypical individuals. The human autism subtypes are highly replicable, are associated with distinct functional network architectures and behavioral profiles and recapitulate the synaptic and immune-related pathways identified in the rodent dataset. Our work provides a new empirical framework for targeted subtyping of the autism spectrum.

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22. Paradis J, Duncan TS. English Second-Language Input and Vocabulary Development in Bilingual Autistic and Neurotypical Children: To What Extent Do Autistic Bilinguals Form a Distinct Group?. J Speech Lang Hear Res;2026 (May 15):1-24.

PURPOSE: Autistic monolingual children show heterogeneity in their language abilities in the school-age years. School-age bilingual neurotypical children also show heterogeneity in their second-language (L2) abilities as these are modulated by many factors including cumulative L2 input. This study compared school-age neurotypical and autistic children’s L2 vocabulary development, as modulated by cumulative L2 input, to determine the extent to which the autistic children formed a distinct group from the neurotypical children. METHOD: Participants were autistic (n = 23) and neurotypical (n = 26) bilingual children with English as their L2 and diverse first-language backgrounds, aged 4;7-9;6 (years;months). Children were matched groupwise for age. Children were administered a receptive vocabulary test, and conversational language samples yielded expressive lexical measures: word tokens and types and internal state term tokens and types. RESULTS: Linear regression modeling revealed that the autistic group had lower scores for all but one vocabulary measure and that higher scores were associated with more L2 input for children in both groups. A hierarchical cluster analysis revealed more nuanced results: One cluster, consisting of all but one of the neurotypical and the majority of the autistic children, overlapped in vocabulary abilities, with the autistic group having somewhat more L2 input. A second cluster consisted of all autistic children except for one neurotypical child and had extensive L2 input and very low vocabulary abilities. CONCLUSIONS: The autistic bilinguals in this study were not a homogeneous group separate from their neurotypical peers. Instead, only some autistic bilinguals showed distinct L2 profiles from their neurotypical peers.

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23. Shnitko TA, Lin SA, Shih YI. Parsing autism spectrum heterogeneity through fMRI. Nat Neurosci;2026 (May 15)

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24. Soto EF, Shuter M, Shea N, Schiros A, Nord J, Kuo YC, Sun H, Antshel K, Russo N. Do ADHD Symptom Clusters Moderate the Association Between Autistic Traits & Error-Related Negativity in Children With and Without Autism?: An EEG/ERP Study. J Autism Dev Disord;2026 (May 15)

PURPOSE: This study aims to address existing mixed findings in the event-related potential error-monitoring (i.e., error-related negativity; ERN) literature in children with autism spectrum disorders (autism). This study is the first to examine the moderating roles of parent-reported attention-deficit/hyperactivity disorder (ADHD) symptoms (i.e., inattention/hyperactivityimpulsivity) on the relation between autistic traits and the ERN/ΔERN in children with and without autism. METHODS: Data was collected from 40 children (10-17 years of age) diagnosed with (n = 17) and without (n = 23) autism matched on age and IQ. Participants completed a flanker task while ERPs were measured. Autistic traits were measured on the Autism Quotient, while ADHD symptoms of inattention and hyperactivity-impulsivity were assessed via parent report on the BASC-2/3 Attention Problems and Hyperactivity subscales. Four moderation models were conducted examining the separate effects of each ADHD symptom cluster on autistic traits predicting the ERN and ΔERN mean amplitudes. RESULTS: Results indicate that the autism group had higher reported Attention Problems and Hyperactivity scores, lower accuracy scores on a traditional Flanker task, and similar reaction times (RT) compared to neurotypically developing peers. Attention Problems moderated the relations between autistic traits and both the ERN and ΔERN, while Hyperactivity only moderated the relation between autistic traits and the ERN. CONCLUSIONS: This study provides an important first step towards understanding how co-occurrence between autism and ADHD symptoms impact neurocognitive processes, such as error-monitoring. These findings suggest future works need to control for co-occurring ADHD symptomology when investigating ERPs in autism samples.

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25. Tunnicliffe DJ, Cumpston M, Kennedy D, Danchin M, Teixeira-Pinto A. Paracetamol in Pregnancy: Uncertain Evidence, Certain Consequences. Med J Aust;2026 (May);224(5):e70203.

Autism diagnoses have increased over the past decade, prompting debate on potential causes. In September 2025, US President Donald Trump claimed that paracetamol is a ‘big factor’ in autism, citing a systematic review based solely on observational studies. The review’s selective reporting, methodological flaws (including applying an environmental health rather than evidence-based medicine framework) and lack of causal evidence provided weak justifications for its conclusions and have fuelled public confusion about paracetamol safety in pregnancy. This article critically appraises the review and examines how scientific uncertainty can be manipulated and amplified within broader public health domains.

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26. Usluer E, Ülker AY, Kaplan İ. Clinical and Molecular Spectrum of Proximal 16p11.2 BP4-5 Copy Number Variations: Insights From a Pediatric Cohort. Dev Neurobiol;2026 (Jul);86(3):e70038.

Copy number variations (CNVs) at the proximal 16p11.2 BP4-BP5 locus are among the most well-characterized genomic regions associated with neurodevelopmental disorders. We aimed to define the clinical and molecular spectrum of these CNVs in a pediatric cohort. A total of 19 patients with pathogenic or likely pathogenic 16p11.2 BP4-BP5 CNVs were identified among 2200 individuals referred for chromosomal microarray analysis (prevalence: 1/116, 0.86%). Deletions were detected in 16/19 (84.2%) patients and duplications in 3/19 (15.8%). Developmental delay/intellectual disability was observed in 12/16 (75%) deletion carriers and 3/3 (100%) duplication carriers. Speech delay was present in 12/16 (75%) and 3/3 (100%), and motor delay in 6/16 (37.5%) and 2/3 (66.6%), respectively. Seizures were identified in 11/16 (68.7%) deletion carriers and 1/3 (33.3%) duplication carriers. Behavioral abnormalities were observed in 6/16 (37.5%) and 2/3 (66.6%), respectively. Neuroimaging data were available in 7/19 patients, with abnormalities detected in 5/7 (71.4%), all of whom had a history of seizures. Structural findings were heterogeneous and included ventricular asymmetry, corpus callosum thinning, and prominence of cerebrospinal fluid spaces. Additional systemic findings included endocrine abnormalities (6/19, 31.6%), skeletal anomalies (4/19, 21.1%), and ophthalmologic findings (3/19, 15.8%). These findings expand the phenotypic spectrum of proximal 16p11.2 BP4-BP5 CNVs and support their early consideration in patients with neurodevelopmental and neurological features, highlighting the need for multidisciplinary evaluation.

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27. Volvovitz B, Newson A, Milosevic A, Timic Stamenic T, Useinovic N, Milosavljevic N, Todorovic SM, Jevtovic-Todorovic V. Sevoflurane, but not alphaxalone, causes lasting autism spectrum disorder-like pathology in male mice after exposure occurs during synaptogenesis. Neuropharmacology;2026 (May 15);289:110861.

BACKGROUND AND PURPOSE: Early-life general anesthesia (GA) may cause changes in socio-emotional behaviors in animals and autism spectrum disorder (ASD) in humans. The mechanisms behind GA-induced ASD symptoms are unknown. We investigate the mTOR activation as a potential cause of ASD. We assess ASD-like pathology after neonatal GA exposure to a volatile agent, sevoflurane, or an injectable GA, alphaxalone. EXPERIMENTAL APPROACH: We exposed male mouse pups on postnatal day 7 (PND7) to sevoflurane or alphaxalone (and their respective vehicles) for 6 h. We performed histomorphological analysis of caspase-3 activity in subiculum 2 h post-GA exposure and Western blot analysis of mTOR activation in hippocampus 24 h post-GA exposure. Spike firing in thalamic neurons was assessed at 4-6 weeks post-GA exposure. Behavioral tests for ASD-like features, including ultrasonic vocalization (USV) at PND8, nestlet shredding, marble burying, and 3-chamber social tests were conducted in adulthood. KEY RESULTS: Sevoflurane, unlike alphaxalone, induced more nestlet shredding/marble burying compared to controls, and caused a shift away from the social preference and towards inanimate object. USV suggested a reduction in ultrasonic calls after sevoflurane, but not alphaxalone. The behavioral changes with sevoflurane were accompanied by an increase in caspase-3 activation, hyperactivation of mTOR, and an increase in neuronal firing compared to controls. The sevoflurane effects were largely reversed with rapamycin (a negative modulator of mTOR). CONCLUSION AND IMPLICATIONS: Unlike sevoflurane, alphaxalone does not cause long-lasting ASD-type behaviors and does not affect the mTOR activation and histomorphology, suggesting that alphaxalone could be a safer alternative to sevoflurane.

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28. Wehrle S, Spaniol M, Vogeley K, Grice M. Consistently longer silent gaps in autistic speaker pairs across three conversational contexts. Sci Rep;2026 (May 15);16(1)

We investigated the timing of turn-taking in matched autistic compared to non-autistic pairs of adult speakers. Turn-taking-the organisation of who speaks when-is the fundamental mechanism of communicative interaction, and has been found to be remarkably fast and robust across different groups of speakers. We build on the only previous study of turn-timing in in matched autistic dyads, while also conducting one of the first within-speaker comparisons of turn-timing across different conversational contexts. We recorded 18 autistic and 28 non-autistic speakers in matched dyads, conversing in three sequential conversational contexts. We analysed 10,251 turn transitions using the measure of Floor Transfer Offset (comprising silent and overlapping transitions). Bayesian inferential modelling was used for statistical analysis. Our results show longer silent gaps 1) in autistic speaker pairs and 2) in the task-based conversational context. The finding of longer silent gaps in autism does not align with the only previous study on conversations between autistic adults. We discuss the importance of investigating naturalistic, face-to-face interaction and question the idea that there is a single, fixed target for conversational turn-timing. We argue that speaker pairs skilfully adjust their turn-taking rhythm to match both interpersonal and situational factors.

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29. Wu Y, Liang N, He F, Tan B. Transcriptome analysis of patients with loss-of-function POGZ variants in four unrelated Chinese families. Gene;2026 (May 15);991:150070.

Intellectual disability (ID) and autism spectrum disorders (ASD) are complex neurodevelopmental disorders (NDDs) with a strong genetic component, and recent studies have highlighted the POGZ gene on chromosome 1q21.3 as a significant contributor, particularly linked to White-Sutton syndrome (WHSUS). POGZ-associated disorders are most commonly caused by heterozygous loss-of-function (LOF) variants, frequently arising de novo. In this study, we aimed to further this understanding by exploring novel pathogenic variants in the POGZ gene and their impact on the molecular landscape of NDDs. We conducted whole-exome sequencing (WES) in four unrelated Chinese families, each with a member diagnosed with ID. Four heterozygous LOF variants in POGZ were identified, including two frameshift deletions, one canonical splice-site substitution, and one nonsense variant. Parental testing was partially available for three probands and, in each case, was consistent with a de novo origin; parental data were unavailable for the remaining proband. Three out of the four LOF variants identified in this study are novel. Additionally, we undertook RNA sequencing and cohort analysis to delve into the molecular implications of POGZ haploinsufficiency. Aberrant expression was observed in 484 genes across the patients, a subset of which are involved in synaptic formation and function, offering insights into the involved molecular mechanisms. This study broadens the mutational spectrum of POGZ-related NDDs and underscores the crucial role of heterozygous POGZ LOF variants in the pathogenesis of ID and related conditions.

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30. Yao M, Wang S, Zhang F, Shi L, Xu Z. Autism-linked protein POSH balances NMDAR signaling via a self-limiting kinase-scaffold loop. iScience;2026 (May 15);29(5):115627.

POSH (plenty of SH3 domains), an autism-linked scaffold protein, is essential for N-methyl-D-aspartate receptor (NMDAR) complex assembly, and its loss causes ASD-like social deficits in mice. However, the synaptic mechanism remains unclear. Here, we reveal that POSH loss reduces SRC postsynaptic enrichment and weakens the interactions within the SRC-NMDAR-PSD-95 complex. Mechanistically, NMDAR activation triggers RAC1-GTP-dependent recruitment of POSH to membrane, leading NMDAR-induced activation of SRC, a key positive regulator of NMDARs. Notably, prolonged NMDAR activation induces the depletion of both POSH and SRC, establishing a negative feedback loop. This dual spatiotemporal mechanism-transient kinase activation coupled with scaffold degradation-constitutes a self-limiting circuit that prevents NMDAR hyperexcitation. Our findings establish POSH as a molecular rheostat that integrates RAC1-driven membrane targeting with SRC activation to precisely regulate NMDAR signaling. These insights would advance our understanding of synaptic homeostasis and may inform potential therapeutic strategies for ASD and glutamatergic disorders.

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