Pubmed (TSA) du 21/09/26
1. Amir-Behghadami M, Sadegh Tabrizi J, Heidarabadi S, Barzegar M, Nikniaz A, Azami-Aghdash S. Mapping the landscape of early childhood development services: a global scoping review. BMJ Open. 2026; 16(9): e122464.
OBJECTIVES: Early childhood development (ECD) services are essential for supporting children’s health, functioning and developmental potential, yet their components and delivery models remain highly diverse across settings. This scoping review aimed to map the global evidence on ECD services for children under 5 years of age, including healthy children, those at risk of developmental difficulties and children with established disorders, to inform policy and programme design. DESIGN: Scoping review conducted in accordance with Arksey and O’Malley’s framework and its subsequent methodological refinements. DATA SOURCES: PubMed/MEDLINE, Scopus, ScienceDirect, Web of Science, Scientific Information Database, Magiran, IranMedex and the Barakat Knowledge Network System were searched. Grey literature was retrieved from OpenGrey, the WHO website and Google Scholar. Clinical trial registries, including ClinicalTrials.gov, the International Standard Randomised Controlled Trial Number registry, the WHO International Clinical Trials Registry Platform and the UK Clinical Research Network Study Portfolio, were also searched. The final search was conducted on 31 December 2024, as specified in the published protocol; this was subsequently updated to 31 December 2025 prior to finalisation of this review. No restrictions were applied regarding time or language. ELIGIBILITY CRITERIA: Studies of any design addressing ECD services for children under 5 years across health and non-health sectors were included. No restrictions were applied regarding time or language. DATA EXTRACTION AND SYNTHESIS: Of 10 598 records identified, 5627 were screened after duplicate removal, and 386 full-text articles were assessed for eligibility. Data were extracted independently by two reviewers using a standardised form and synthesised descriptively. Findings were organised into service components, delivery models, barriers, facilitators and recommendations. No formal quality appraisal was undertaken, consistent with scoping review methodology. RESULTS: A total of 271 studies were included. Most evidence originated from high-income countries, with sparse representation from low-income settings. Hybrid delivery approaches were most common, and interventions were typically multicomponent and delivered by multidisciplinary teams involving health professionals and community health workers. 10 core service components were identified, with family-centred and integrated approaches prominent across populations. Eight thematic categories of barriers and facilitators emerged, spanning workforce, organisational processes, infrastructure, policy and cultural factors. Across this heterogeneous evidence base, interventions were frequently reported to be associated with improvements in child developmental outcomes, caregiver well-being and knowledge, provider competencies and intersectoral coordination; however, these findings are descriptive and should not be interpreted as causal. CONCLUSIONS: ECD services are delivered through diverse but increasingly integrated models. Strengthening workforce capacity, contextual adaptation, and policy support is essential to enhance equitable implementation and scale-up, particularly in low-resource settings. The descriptive nature of this scoping review precludes direct comparisons or causal inferences. The mapped evidence provides a foundational resource for policymakers and programme planners to identify service gaps, prioritise context-specific adaptations, and guide the design of comprehensive ECD service packages.
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2. Brewer N, Lucas CA, Logos K, Young RL, Lim A. How behavioral differences between autistic and nonautistic suspects in forensic interviews affect observers’ evaluations: Evidence for expectancy violations theory but not the double empathy hypothesis. Law Hum Behav. 2026.
OBJECTIVE: Despite suggestions that autistic individuals’ behavioral characteristics may arouse suspicion and undermine credibility during police and courtroom questioning, specific contributing behaviors have not been identified. We examined whether (a) suspects’ figurative language difficulties and speech hesitations led to unfavorable evaluations, especially for autistic suspects, (b) evaluations of autistic and nonautistic suspects reflected the observer’s diagnostic status as predicted by the double empathy hypothesis, and (c) evaluations were predicted by expectancy violations theory. HYPOTHESES: We predicted harsher evaluations of suspects (a) with figurative language difficulties and speech hesitations, particularly for autistic suspects, (b) when the diagnostic status of observers and suspects differed, and (c) following violations of expected behavior. METHOD: Autistic and nonautistic observers (Experiment 1 Ns = 212 and 215; Experiment 2 Ns = 125 and 125) watched online interviews with autistic or nonautistic chatroom participants suspected of computer hacking. Suspects with relatively high or low levels of either figurative language difficulties (Experiment 1) or speech hesitations (Experiment 2) were rated on suspiciousness, credibility, guilt, and expectancy violations. RESULTS: Harsher evaluations were detected for autistic than nonautistic male suspects and when autistic suspects displayed more marked speech hesitations. The observer’s diagnostic status did not affect evaluations of suspects, but expectancy violations did, regardless of the suspect’s autism diagnostic status. CONCLUSIONS: Male autistic suspects, and autistic suspects displaying more pronounced speech hesitations, appear vulnerable to negative evaluations. More extreme expectancy violations may exacerbate such evaluations. The double empathy hypothesis was not supported, but findings aligned with expectancy violations theory predictions. (PsycInfo Database Record (c) 2026 APA, all rights reserved).
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3. Du Z, Ma L, Peng B, Shen F, Wang X, Zhang Y. Roles of the Neuregulin 1/ErbB4 Signaling Pathway in the Pathogenesis of Autism Spectrum Disorder. Curr Neuropharmacol. 2026.
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that first manifests in the early stages of childhood. The exact underlying mechanism of ASD remains unknown, and its etiology is rather complex. Neuronal migration, cognitive development, and continuous neural plasticity are strongly influenced by the Neuregulin 1 (NRG1)/ErbB4 signaling pathway. Hence, the pathogenesis of ASD may be closely connected to dysfunction of the NRG1/ErbB4 pathway. According to our current review, either the activation or inhibition of this pathway can lead to the development of ASD, and GABAergic system dysfunction can result in ASD-like behaviors. Moreover, NRG1 binds to ErbB to promote GABA release, and abnormal NRG1 activity affects GABAergic neuron development and function, thus impairing cognition and social interactions. Additionally, the activity of the PI3K/AKT/mTOR pathway differs in various brain regions, and its activation or inhibition can lead to the development of ASD. By activating ErbB CTY-1, NRG1 promotes the development of neurodevelopmental disorders through further activation of the PI3K/AKT/mTOR pathway. Therefore, the NRG1/ErbB4 pathway can regulate GABAergic system functions and affect the activity of the PI3K/AKT/mTOR pathway, thereby resulting in abnormal social interactions and cognitive impairment. Targeting dysfunctions of the GABAergic system, the PI3K/AKT/mTOR pathway, and the NRG1/ErbB4 pathway are currently promising strategies for the treatment of ASD. Candidate agents that modulate these pathways have been shown to be effective in preclinical animal models. However, the limitations of these models and the considerable etiologic and phenotypic heterogeneity among patients with ASD continue to hinder their clinical translation. This article reviews evidence suggesting that the pathogenesis of ASD is closely associated with the NRG1/ErbB4 signaling pathway, the GABAergic system, and the PI3K/AKT/mTOR pathway. This article also analyzes the main obstacles to pharmacological interventions and provides a theoretical basis for understanding the pathogenesis of ASD and for identifying potential targets for future therapeutic strategies.
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4. Duong VN, Thompson C, McVeigh J, Quested E. Feasibility and Acceptability of a Co-Designed, Pair-Based Physical Activity Program for Autistic Adults. Res Q Exerc Sport. 2026: 1-15.
This study examined the feasibility and acceptability of a co-designed, Behavior Change Wheel-guided, pair-based physical activity (PA) program and explored preliminary changes in PA’s level and motivation. A single-arm trial with pre-, mid-, and post-intervention measurements was conducted. Autistic adults participated with a chosen partner in a 12-week PA program that supported self-determined activities, goals, schedules, self-monitoring, fortnightly check-ins, and regular facilitator support. Outcomes included intervention acceptability, appropriateness, feasibility, adherence, and adverse events, as well as study feasibility indicators including consent, eligibility, recruitment, retention, data completeness and analyzability rates. PA and sedentary behavior were assessed using the International Physical Activity Questionnaire-Short Form (IPAQ-SF) and a SENS accelerometer, and PA motivation was assessed using the Behavioral Regulation in Exercise Questionnaire-3 (BREQ-3). Four dyads enrolled. Participants rated the program as feasible, appropriate, and acceptable. Attendance and adherence exceeded the prespecified benchmark of ≥70%, and no adverse events were reported. One pair opted out of all non-measurement components after Week 1. The consent rate (29.3%) and enrollment eligibility rate (33%) fell below prespecified benchmarks, whereas recruitment and retention were 100%. Measurement completion rates met the benchmark (≥80%) at every time point. Analyzable rates met benchmark for SENS, BREQ-3, and the post-program acceptability/appropriateness/feasibility questionnaire, but not IPAQ-SF. SENS data showed reduced sedentary time and increased low-intensity activity at mid-program, with both returning to baseline at post-program. Most autistic participants showed higher self-determined PA motivation post-program. The program appeared feasible, acceptable, and appropriate for participants, but recruitment and onboarding posed challenges.
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5. Eldeeb S, Antezana L, Conner CM, Beck KB, Victor SE, Tsypes A, Scott LN, Mazefsky CA. Recent Non-Suicidal Self-Injury in Autistic Adolescents and Adults: Characteristics, Clinical Correlates and Suicidal Thoughts and Behaviors. Autism Res. 2026: e70370.
Non-suicidal self-injury (NSSI) is prevalent among autistic adolescents and adults, yet research on its clinical characteristics, functions, and association with suicidal thoughts and behaviors (STBs) in this population remains limited. This study compared these domains between autistic adolescents and adults with and without recent NSSI. 520 autistic adolescents and adults (260 with recent (past 6 months) NSSI; 260 age- and sex-matched without recent NSSI group) completed measures of NSSI characteristics and functions, STBs, mental health, and autistic traits. Group comparisons were conducted with Benjamini-Hochberg correction for multiple comparisons. The recent-NSSI group demonstrated poorer psychological quality of life, lower self-compassion, greater depression and anxiety, elevated autistic traits, and greater alexithymia and camouflaging than the no-recent-NSSI group. Lifetime passive suicidal thoughts, active suicidal thoughts, and suicide attempts were over four, five, and three times more likely in the recent-NSSI group, respectively. All 36 participants who reported a recent suicide attempt occurred exclusively in the recent-NSSI group. Regarding NSSI phenomenology, onset averaged 9.88 years with an estimated average of 19 years elapsed since NSSI onset; banging/hitting (66.9%) and wound interference (62.7%) were more common than cutting (35.4%). Affect regulation and self-punishment were the most endorsed functions (motivations). Autistic people who recently engaged in NSSI are characterized by difficulties in self-compassion, elevated psychiatric symptoms, and pronounced STBs. While findings on NSSI methods in the non-autistic population are mixed, our sample showed meaningful divergence from typical non-autistic presentations, characterized not only by differences in methods but also by a distinctive childhood onset and a longer interval since NSSI onset. Future research should prioritize longitudinal investigations to clarify causal pathways across the lifespan.
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6. Godel M, Fló A, Benjamin L, Dehaene-Lambertz G, Schaer M. Infants at high and low likelihood for autism show different EEG developmental trajectories in speech tracking and statistical learning. Elife. 2026; 14.
Delayed onset of canonical babbling and first words is often reported in infants later diagnosed with autism spectrum disorder. Identifying the neural mechanisms underlying language acquisition in autism is therefore critical to inform early diagnosis, prognosis, and intervention strategies. In this study, we investigated two speech processing mechanisms previously identified as atypical in children and adults with autism: the neural ability to track syllables, and statistical learning, the capacity to detect speech regularities beneath surface variability. We recorded 83 longitudinal high-density electroencephalograms from 44 infants (2.5-22.6 months) at high (HL) and low (LL) likelihood for autism and assessed their verbal outcomes at 20 months. Neural entrainment was measured at syllable and word frequencies during exposure to a multi-speaker stream of concatenated tri-syllabic words, followed by a word recognition test using evoked response potential (ERP) recording. Our findings revealed reduced tracking abilities at the syllabic level in HL infants, a measure that correlated with verbal outcomes. While HL infants did not exhibit deficits in statistical learning itself, they displayed reduced novelty orientation during the word recognition test, indicated by a reduced late ERP. By contrast, multi-talker variability temporarily disrupted word segmentation around 12 months in LL infants, but not in HL infants, potentially reflecting decreased sensitivity to human voices variability in the HL group. These results emphasize the importance of longitudinal protocols employing online, implicit measures to track the hierarchical stages of speech processing in both HL and LL infants.
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7. Habbal F, Alhumaidan AA, Aljaberi H, Mostafa FNB, Almali S, Almenhali A. Professional Performance of Assistant Teachers Supporting Children With Autism in the United Arab Emirates: Mixed Methods Observational Study. JMIR Pediatr Parent. 2026; 9: e86784.
BACKGROUND: Assistant teachers play a central role in supporting children with autism spectrum disorder in United Arab Emirates inclusive classrooms. Despite this importance, no prior study has used validated observational instruments to systematically evaluate assistant teachers’ competency profiles across classroom practice and parent interaction domains simultaneously in this cultural context. OBJECTIVE: This program evaluation study assessed the professional performance of assistant teachers supporting children with autism spectrum disorder, examining classroom instructional competencies and parental engagement behaviors within a single United Arab Emirates diploma training program. METHODS: A convergent mixed methods design was used. Ten assistant teachers who completed a national diploma training program were assessed by 3 independent expert evaluators across 50 site visits (n=25, 50% classroom observations; n=25, 50% parent meeting observations) conducted in January 2025 and March 2025. Tool 1 assessed 11 standardized classroom competency criteria, and tool 2 assessed 8 parent interaction criteria, both using a 5-point Likert scale. Mean scores were calculated by averaging all evaluator ratings across observation sessions per criterion. Internal consistency was assessed using the Guttman λ (λ=0.79 for tool 2). Formal interrater reliability was not computed; consensus-based resolution was used in cases in which evaluator ratings differed, which is acknowledged as a methodological limitation. Qualitative field notes were analyzed using the 6-phase thematic analysis by Braun and Clarke. RESULTS: Classroom performance means were 4.56 (SD 0.19; very high) in phase 1 (January 2025) and 4.55 (SD 0.23; very high) in phase 2 (March 2025). All teachers (10/10, 100%) achieved ceiling scores for daily living skill support and cultural adherence (mean 5.00, SD 0.00) across both phases. Safety and hygiene criteria scores were in the high range (mean 4.00, SD 0.00 to 4.10, SD 0.32). In parent interaction assessments (tool 2), the overall mean was 4.75 (SD 0.20; very high). The highest-ranked criteria were empathetic family treatment (mean 4.92, SD 0.28) and meeting preparation (mean 4.88, SD 0.33). The lowest-ranked criterion was clarity of structured communication (mean 4.48, SD 0.51; very high). Qualitative themes identified culturally responsive communication, emotional attunement, and individualized education plan-aligned practice. Repeated SD values of 0.00 and the absence of formal interrater reliability statistics are limitations that should be considered when interpreting these findings. CONCLUSIONS: Within this program-specific evaluation, assistant teachers demonstrated consistently high professional competence. These preliminary findings suggest that diploma-based training can support culturally aligned and technically proficient inclusive practice. Targeted professional development in proactive safety and hygiene integration and structured individualized education plan-linked parent communication are recommended. Replication with larger, multi-institutional samples is required before broader conclusions can be drawn.
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8. Hand BN, Hyer JM, Nikahd M, Gothard A, Brock G, Gardner J, Bishop L, Shea L, Wang L, Schenk AD. Antidiscrimination Laws and Kidney Transplant for Patients With Developmental Disabilities. JAMA Intern Med. 2026.
This cohort study explores the association between transplant antidiscrimination state laws and rates of transplant evaluation and receipt among patients with end-stage kidney disease with or without intellectual and/or developmental disabilities. eng Pennsylvania Department of Human Services to support policy planning and data activities. No other disclosures were reported.
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9. Jiao J, Long J, Yang X, Tan L, Zhang H, Li T, Tang X. Objective and subjective sleep characteristics across severity subgroups in children with autism spectrum disorder. J Child Psychol Psychiatry. 2026.
BACKGROUND: Sleep disturbances are common in children with autism spectrum disorder (ASD), yet the relationship between objective sleep characteristics and ASD severity remains unclear. We examined polysomnography-derived and caregiver-reported sleep characteristics in children with ASD and typically developing children (TDC), with additional analyses across ASD severity subgroups. METHODS: We included 111 children aged 3-13 years: 81 with ASD and 30 TDC. Participants underwent home PSG, and second-night PSG data were used for the primary analyses. Caregiver-reported sleep behaviors were assessed with the Children’s Sleep Habits Questionnaire. Children with ASD were classified by Childhood Autism Rating Scale scores into mild (M-ASD, n = 36) or moderate-to-severe (MS-ASD, n = 45) subgroups. Group comparisons used age- and sex-adjusted analysis of covariance with correction for multiple comparisons. Exploratory logistic regression and receiver operating characteristic analyses were conducted in the ASD group. RESULTS: Compared with TDC, children with ASD showed poorer sleep continuity, including lower sleep efficiency and longer sleep latency, with greater wake after sleep onset in the primary model. Sleep-architecture differences were not significant after correction. Across severity subgroups, sleep-continuity difficulties were present in both ASD subgroups, whereas increased wake after sleep onset and greater caregiver-reported bedtime difficulties were most evident in MS-ASD. Bedtime resistance, sleep onset delay, and sleep anxiety differed across severity subgroups. Exploratory ASD-only analyses suggested that selected PSG and caregiver-reported variables may provide complementary information for characterizing differences between M-ASD and MS-ASD. CONCLUSIONS: Children with ASD showed poorer sleep continuity than TDC, and children with MS-ASD had more pronounced caregiver-reported bedtime difficulties. Objective and caregiver-reported sleep measures may provide complementary information for characterizing sleep phenotypes across ASD severity.
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10. Mathur P, Mathur S, Kaur A, Vijay U, Vyas A, Danger G. Genetic Modulation of One-Carbon Metabolism in Autism Spectrum Disorder: An MTHFR-Based Cross-Sectional Study with Neurotypical Controls. Indian J Pediatr. 2026.
OBJECTIVES: Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition in which disruptions in one-carbon metabolism, regulated by methylenetetrahydrofolate reductase (MTHFR), may contribute to phenotypic variability. This study investigated MTHFR C677T and A1298C polymorphisms and their association with serum vitamin B12, folate, and ASD risk in children. METHODS: One hundred children with ASD and 100 age-matched neurotypical controls were enrolled. MTHFR genotyping was performed by allele-specific real-time PCR. Serum vitamin B12 and folate by enzyme-linked immunosorbent assay. Associations were assessed using logistic regression under dominant, additive, and recessive genetic models. Discrimination was evaluated by receiver operating characteristic analysis. RESULTS: The C677T TT genotype was overrepresented in ASD cases (57% vs. 43% controls), with significant Hardy-Weinberg deviation (χ² = 21.812, p <0.0001). Mutant A1298C genotypes were observed in 79% of cases. Vitamin B12 declined with increasing C677T T-allele dosage (p <0.001) and folate with A1298C C-allele burden (p = 0.003). Higher vitamin B12 independently associated with reduced ASD odds (OR 0.36, 95% CI 0.17-0.76, p = 0.008). C677T TT homozygosity was significantly associated with increased ASD odds under the recessive model (OR 1.76, 95% CI 1.00-3.08, p = 0.049). A1298C was non-significant across all models, indicating modest discrimination suitable for exploratory purposes only. CONCLUSIONS: Children with ASD showed a high burden of functional MTHFR variants with genotype-linked metabolic variation. TT homozygosity was associated with ASD risk under recessive model, supporting a threshold-dependent genetic effect on one-carbon metabolism. These findings warrant prospective validation in larger independent cohorts.
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11. Mendonca CJ, Rimmer JH, Wright A, Young R, Ananth A, Lai B. Leisure-Time Physical Activity Interventions for Health Promotion in Individuals With Rett Syndrome: Scoping Review. JMIR Rehabil Assist Technol. 2026; 13: e91550.
BACKGROUND: While half of individuals with Rett syndrome (RTT) are older than 50 years, research shows that they have low levels of physical activity, especially for those of advanced age and poor ambulation. Despite this evidence, recent studies underscore the potential of leisure-time physical activity interventions to improve health outcomes and quality of life for individuals with RTT. OBJECTIVE: This scoping review aimed to summarize the state of the science regarding physical activity interventions for individuals with RTT and their families across the life span; map the extent, range, and nature of research activity in telehealth; and describe outcomes targeted by interventions with a focus on health-related fitness. METHODS: Systematic searches were performed in the MEDLINE, Scopus, Google Scholar, and CINAHL Plus databases. The data charted from eligible studies included specific details about the participants, study design, setting, intervention characteristics, outcomes, and relevant key findings. Inclusion criteria were (1) original, peer-reviewed research; (2) full-text articles in English; (3) studies reporting a leisure-time physical activity intervention; and (4) a sample of individuals with RTT and/or caregivers. RESULTS: A total of 23 studies enrolled 200 participants in total (mean age 13, SD 7, range 2-48 years). Participants were all female individuals, and studies included mostly those who were ambulatory. RTT severity was reported in less than half (9/23, 39%) of the studies; however, participants with mild to severe scores were represented. Most of the studies (20/23, 87%) used a case study design or single-group repeated measures, and only 13% (3/23) were randomized trials. The focus was primarily on gross motor function, walking ability, and physical activity outcomes. In total, 39% (9/23) of the interventions implemented telehealth into their design, primarily using remote video calls between a physical therapist and the participants’ parents. CONCLUSIONS: The findings of this review provide a foundation for designing evidence-based, scalable physical activity programs tailored to the unique needs of individuals with RTT. The integration of telehealth strategies offers a promising avenue for enhancing accessibility and caregiver engagement.
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12. Ortigoza-Escobar JD, Marti-Sánchez L, Martorell L, Dinoi G, Buono AV, De Luca A, Liantonio A, Imbrici P. A Novel KCNA1 Variant in a Patient With Tremor and Autism Spectrum Disorder Causes Mixed LOF/GOF Defects of Kv1.1 Channels. Ann Clin Transl Neurol. 2026.
Variants in KCNA1, encoding the Kv1.1 potassium channel, cause neurological disorders including episodic ataxia and developmental and epileptic encephalopathy. We identified a novel KCNA1 variant (A401T) in a 16-year-old patient with autism spectrum disorder, borderline intellectual disability, and tremor, without episodic ataxia or epilepsy. Functional analysis in HEK293 cells showed that A401T markedly reduced potassium currents, slowed activation, and accelerated C-type inactivation, consistent with loss-of-function (LOF), while shifting channel activation to more negative potentials, indicating gain-of-function (GOF). Overall, our findings expand both the clinical and functional spectrum of KCNA1-related disorders by identifying autism spectrum disorder and tremor associated with a mixed LOF/GOF KCNA1 variant.
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13. Schleiss MR. TORCH Infections in Pregnancy and Autism Spectrum Disorders. JAMA Pediatr. 2026.
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14. Shedd A, Jonak C, Chan L, Assad S, Dravid S, Gibson J, Binder D, Huber K. A cell type-specific switch in GluN2D NMDA receptors drives cortical circuit hyperexcitability and sensory-driven cortical synchronization deficits in a Fragile X Syndrome model. Biol Psychiatry. 2026.
BACKGROUND: Altered sensory processing and sensitivity are prevalent in Fragile X Syndrome (FXS) and may be mediated by dysfunction of cortical circuits. Evidence from individuals with FXS and/or the FXS mouse model, Fmr1 KO, indicates hyperexcitability of sensory cortical circuits, deficits in sensory-driven circuit synchrony and sensory-induced seizures. GluN2D-containing NMDA receptors (NMDARs) are enriched in cortical inhibitory neurons. We hypothesized that selective activation of GluN2D may correct cortical circuit hyperexcitability, seizures, and synchrony deficits in Fmr1 KO mice. METHODS: To test this hypothesis, we used pharmacology and cell type-specific genetic manipulation of GluN2D combined with multi-unit and single cell electrophysiology in cortical slices and multielectrode EEG in vivo to examine the functional contribution of GluN2D to cortical circuit dysfunction in the Fmr1 KO mouse. RESULTS: In contrast to our hypothesis, pharmacological inhibition of GluN2D-containing NMDARs corrects cortical circuit hyperexcitability, reduces sensory-driven seizures and improves EEG synchrony in Fmr1 KO mice. We demonstrate a switch in the cell type-specific functional expression of GluN2D-containing NMDARs in Fmr1 KO, from inhibitory to excitatory cortical neurons, which drives circuit hyperexcitability. In support of this conclusion, the mRNA for GluN2D (Grin2d) is upregulated in Fmr1 KO excitatory neurons and genetic reduction of Grin2d in excitatory neurons corrects measures of circuit hyperexcitability in Fmr1 KO mice. CONCLUSIONS: Our results reveal an unexpected cell type-specific switch in GluN2D-containing NMDARs in a model of a major genetic cause of intellectual disability and autism and suggest a novel therapeutic strategy to aid sensory processing deficits in FXS.
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15. van Huizen JC, Teunisse JP, Orgassa A, Staal W, Strijbos D. Enactive Mind Autism: Autopoietic enactivism as a practical framework for autism healthcare. Psychopathology. 2026: 1.
Autism healthcare has traditionally focused on individual biological and behavioral factors. In recent decades, there has been growing recognition that the outside world also plays an enabling if not constitutive role in the development of support needs. This broader view complicates healthcare delivery as the traditional person-centered focus ‘diffuses’ into the environment. An integrative approach, rooted in autopoietic enactivism, can provide guidance here – aimed at establishing stable, authentic, and health-promoting patterns of engagement between an autistic individual and their surroundings. Although the application of autopoietic enactivism has gained popularity among philosophers of psychiatry, its clinical consolidation remains limited. In addressing this gap, this paper presents a preliminary practical framework called Enactive Mind Autism (EMA). EMA consists of five dimensions to explore the relevance and implications of an autopoietic-enactive approach in autism healthcare: aspects of (1) ecological, (2) historical, (3) tangible-embodied, (4) intersubjective, and (5) socio-cultural life. To conclude, this paper draws a connection with design research to imagine new methodological directions for clinical research and practice, which, from an autopoietic-enactive perspective, is encouraged to take a phenomenological, pragmatic, and material turn.
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16. Viterbo RG, Tritto R, Sardella D, Iaffaldano P, De Giacomo A. Immune and Autoimmune Mechanisms in Autism Spectrum Disorder: Linking Molecular Pathways to Neuropsychological Trajectories Across the Lifespan. Int J Mol Sci. 2026; 27(18).
Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition with wide differences in cognitive, behavioral, and adaptive outcomes across the lifespan. Current evidence suggests that part of this heterogeneity may be related to interactions among genetic susceptibility, environmental exposures, and immune processes acting during important periods of brain development. This narrative review examines the molecular and cellular mechanisms through which immune dysregulation and autoimmunity may contribute to neurodevelopmental variability in ASD. It also explores possible links with age-related neuropsychological trajectories. Main topics include maternal immune activation, maternal brain-reactive autoantibodies, cytokine signaling, peripheral immune cell changes, microglial and astrocytic function, complement-mediated synaptic remodeling, and gut-immune-brain pathways. These mechanisms are discussed in relation to language, attention, executive functions, sensory processing, social cognition, emotional regulation, adaptive functioning, and psychiatric comorbidity from childhood to adulthood. Current evidence supports immune dysfunction as a possible modifier of ASD phenotypes rather than a universal or isolated cause. Direct longitudinal evidence linking specific immune profiles to defined neuropsychological trajectories is still limited, especially in adults. Integrating molecular, immunological, and neuropsychological data may help identify biologically meaningful ASD subgroups and support future biomarker development, developmental stratification, and more personalized therapeutic approaches.
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17. Wang Z, Liu Y, Ren Y, Li Q, Tian J, Yu B, Zhu Y, Wang J, Li M, Qiao L, Zhang Y. FuTCM-PDD: a multi-level information fusion framework integrating KAN modeling and AutoML for phenotype-based drug discovery from Traditional Chinese Medicine. Chin Med. 2026; 21(1).
Phenotype-based drug discovery has attracted increasing attention due to its critical role in first-in-class drug development and higher clinical translation rates. Chinese Materia Medica (CMM), with its emphasis on properties and efficacies, provides a unique framework for phenotype-oriented therapeutic discovery. We developed an AI-driven framework, FuTCM-PDD, that integrates CMMs, compounds, targets, pathways, pharmacological effects, CMM efficacies, and CMM properties to enable phenotype-based drug discovery. For drug-target interaction (DTI) prediction, a Kolmogorov-Arnold Network (KAN) model with circle loss optimization was established, outperforming the best baseline by 16.14% in Recall@10 and validated by literature, databases, and molecular docking. In addition, an Automated Machine Learning (AutoML) framework integrating 168 machine learning algorithms was implemented using pharmacological effects to predict CMM properties and efficacies. By integrating model predictions of targets, pharmacological effects, properties, and efficacies, covering 809,645 associations across 7141 CMM herbs, 30,731 compounds, 4321 targets, 40 pharmacological effects, 18 properties, and 18 efficacies, we constructed a multi-layer biological network centered on CMM properties and efficacies. The integrative network was validated via randomization analyses, establishing its biological significance and enabling quantitative mappings across CMM herbs, compounds, targets, pharmacological effects, and CMM phenotypic concepts through network-topology metrics, information-flow modeling, and randomized perturbation embedding. Using an approach distinct from conventional network pharmacology, the FuTCM-PDD identified a lipid-lowering pharmacological effect of Notopterygii Rhizoma et Radix (NRR, Qianghuo) and its active compounds, which were experimentally validated using an in vitro hepatic steatosis model. FuTCM-PDD provides an AI-assisted framework for phenotype-based discovery of potential drug candidates from CMM through multi-level data fusion, helping move beyond the recurrent prioritization of commonly reported associations in conventional network pharmacology and supporting the identification of pharmacologically relevant candidate compounds associated with specific phenotypic contexts.
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18. Xavier J, Verley A, Cohen D, Pellerin H, Kirsch LP, Auvray M. Spatial perspective-taking abilities on ambiguous tactile stimuli: The case of children with autism spectrum disorder or developmental coordination disorder. PLoS One. 2026; 21(9): e0355395.
Spatial perspective-taking corresponds to the ability to adopt someone else’s point of view. Abnormalities in visual perspective-taking have been reported in neurodevelopmental disorders (NDDs), such as Autism spectrum disorder (ASD) and developmental coordination disorder (DCD), which are highly comorbid conditions. This study explored the developmental aspects of perspective-taking in the tactile modality in typically developing children and children with NDD. A total of 107 children, aged between 6 and 17 years, completed the study: 74 were typically developing (TD) and 33 had a neurodevelopmental disorder (NDD) (24 had ASD and 9 had DCD). We used a graphesthesia task to investigate the perspectives adopted by children when interpreting ambiguous tactile symbols (b, d, p and q) presented on their stomach. The children’s responses to the stimuli allowed us to infer the perspective they had adopted to interpret them: egocentric (head- or trunk-centred) or decentred. The spontaneous perspective was predominantly egocentric (82% and 77% for TD and NDD groups, respectively). There were no significant differences between the groups. During S2 and S3, in which we imposed a perspective on participants, accuracy increased with age for both groups. Additionally, the NDD group demonstrated significantly lower accuracy than the TD group in session 2. Response times (RT) were similar, except for the imposed decentered perspective. RT was significantly higher in the NDD group than for the TD group. From a developmental perspective, our findings highlight the embodied strategy involved in perspective-taking in the tactile modality, as well as its specificities in children with NDD. We discuss our results in relation to possible impairments in developmental dimensions, including inhibitory control and multisensory integration amongst those with ASD.
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19. Zablotsky B, Black LI, Ng AE, Blumberg SJ. Trends in Parent-Reported Developmental Disabilities: 2019-2024. Pediatrics. 2026; 158(4).
OBJECTIVES: To study the national prevalence of 5 developmental disabilities in children 3-17 years in the United States between 2019 and 2024 as well as changes in prevalence by selected demographic and socioeconomic characteristics. METHODS: Data come from the National Health Interview Survey, a nationally representative survey of the noninstitutionalized childhood population in the United States, with a focus on attention-deficit/hyperactivity disorder, autism spectrum disorder, learning disability, intellectual disability, and other developmental delays. All diagnoses are based on parents reporting what they have been told by a physician or other health care professional. Estimates were calculated overall using survey weights and stratified by select demographic and socioeconomic characteristics. Trends were calculated using unadjusted and adjusted logistic regressions. RESULTS: From 2019-2020 to 2023-2024, even after adjustment, there was an overall increase in the prevalence of any parent-reported developmental disability (16.7% to 20.5%, P < .001), attention-deficit/hyperactivity disorder (9.5% to 12.0%, P < .001), autism spectrum disorder (3.1% to 4.5%, P < .001), learning disability (7.6% to 8.8%, P < .001), and for any other developmental delay (5.5% to 6.4%, P < .05). There was not a significant increase in intellectual disability during this period. CONCLUSIONS: The parent-reported prevalence of developmental disability among US children aged 3-17 years increased between 2019 and 2024. These increases could be related to earlier detection and awareness.
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20. Zhou L, Duan M, Dai Y, Zhang W, Chen M, Xu M, Cai M, Zhang L. Parenting stress and family quality of life among parents of children with autism spectrum disorder in the early post-diagnosis stage: The mediating role of parenting self-efficacy. J Pediatr Nurs. 2026.
AIMS: To examine the mediating role of parenting self-efficacy in the association between parenting stress and family quality of life (FQOL) among parents of children with autism spectrum disorder (ASD) in the early post-diagnosis stage. METHODS: A convenience sample of 220 parents of children with ASD was recruited in a tertiary hospital in Guangzhou, China from September 2022 to August 2023. Participants completed the Beach Center Family Quality of Life Scale, the Parenting Stress Index-Short Form, and the Parenting Sense of Competence Scale. Mediation was tested using Hayes’ PROCESS macro. RESULTS: The total FQOL score was 85.88 ± 18.98. Among FQOL domains, satisfaction was highest for family interaction and lowest for disability-related support. After controlling for covariates, parenting stress demonstrated a significant direct effect on FQOL (β = -0.173, P < 0.05) and a significant indirect effect through parenting self-efficacy (β = -0.080, 95% CI = [-0.154, -0.026]). The indirect effect accounted for 31.5% of the total effect. CONCLUSIONS: FQOL among parents of children with ASD in the early post-diagnosis stage was at a moderate level. Parenting self-efficacy partially mediated the association between parenting stress and FQOL. Interventions targeting both parenting stress and parenting self-efficacy might improve FQOL in this population. IMPLICATIONS TO PRACTICE: Pediatric nurses and community providers should address both parenting stress and parenting self-efficacy when supporting families of children newly diagnosed with ASD. Parental needs should be assessed alongside child-focused care, and timely psychoeducation and referrals to parenting programs and social services should be provided.