Pubmed (TSA) du 28/09/26
1. Dababnah S, Nasir R. When Visa Policy Becomes Health Policy: Children With Developmental Disabilities, War and Humanitarian Access. Child Care Health Dev. 2026; 52(6): e70354.
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2. DeVane C. The Strange Mirror: Medical Storytelling as a Fragile X Carrier on TikTok. Narrat Inq Bioeth. 2026; 16(2): 109-12.
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3. Feinmann J. ADHD and autism: Two year minimum waits imposed in fresh NHS rationing drive. Bmj. 2026; 394: e100984.
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4. Guo JW, Shen EW, Huang WQ, Guo LY, Schonewille M, De Zeeuw C, Chen W, Zhou L, Shen Y, Wang L. Aberrant Neural Outputs and Disrupted Neural Oscillations of the Cerebellar Nuclei in a Mouse Model of Fragile X Syndrome. Neurosci Bull. 2026.
The cerebellum is heavily connected to other brain regions, playing a role in both motor and non-motor functions. Genetic mutations leading to cerebellar dysfunction are associated with autism spectrum disorder (ASD); however, cerebellar output has not yet been systematically studied in this context. Here, using Fmr1-knockout mice, a model for Fragile X syndrome, we mapped the three-dimensional distributions of target neurons in the deep cerebellar nuclei (DCN). We found that projections from the DCN to various forebrain nuclei were differentially and specifically altered in Fmr1-knockout mice. Furthermore, in vivo electrophysiology revealed disrupted neuronal firing patterns, loss of specific neuronal subtypes, and aberrant local field potential oscillations within the DCN of Fmr1-knockout mice, all in the absence of any morphological changes. Notably, these oscillations exhibited weakened θ, α, and β powers, while the γ power remained unchanged. Our study further demonstrated the nucleus-specific dysregulation of cerebellar outputs and associated network dysfunction in an ASD model, highlighting the cerebellum as a key node in the pathophysiology of different neurodevelopmental disorders.
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5. Hazan-Liran B, Walter O. Exploring Relations Between Psychological Capital, Social Support and Self-Compassion Among Siblings of Individuals With Developmental Disabilities. Child Care Health Dev. 2026; 52(6): e70356.
BACKGROUND: We examined correlations between psychological capital (PsyCap), social support and self-compassion among siblings of individuals with developmental disabilities versus siblings of individuals without developmental disabilities. METHODS: We hypothesized that (1) there would be positive correlations between PsyCap, social support and self-compassion at the sample level and within each group; (2) siblings of individuals without developmental disabilities would exhibit lower levels of these variables than siblings of individuals with developmental disabilities; and (3) relations between social support and self-compassion would be mediated by PsyCap in both groups. We surveyed 154 adults aged 18-71 years, including 42 siblings of individuals with developmental disabilities (19-71 years) and 112 siblings of individuals without developmental disabilities (18-71 years). RESULTS: Results indicated significant positive correlations between PsyCap, social support and self-compassion at the sample level and among siblings of individuals without developmental disabilities. As hypothesized, PsyCap mediated relations between social support and self-compassion. Contrary to expectations, no significant differences were found between the two groups in levels of PsyCap, social support or self-compassion. CONCLUSION: These findings suggest that PsyCap constitutes a key internal psychological resource that supports self-compassion among siblings, including those of individuals with developmental disabilities, highlighting its potential value as a target for interventions promoting sibling well-being.
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6. Kabakov S, Smith A, Caudill A, Veltus J, Cutting R, Woolley A, Ausderau K. A Community-Driven Toolkit to Improve Rural Emergency Department Accessibility for Autistic Children and Their Families. Prog Community Health Partnersh. 2026; 20(3): 437-46.
Autism core characteristics and sensory processing differences can create significant barriers to families accessing and children receiving emergency health care in the heightened sensory and fast-paced environment of emergency departments (EDs), particularly in rural communities. This project aimed to use a community-collaborative approach to develop and disseminate educational materials, recommend ED environmental modifications, and implement sensory regulation supports to enhance the capacity of health care providers and staff in supporting autistic children within rural ED settings. An interdisciplinary community-academic partnership team including researchers, graduate students, parents, an autistic focused organization, health care providers, and hospital staff used an iterative process to co-create materials. The collaboration yielded a multifaceted toolkit with high acceptability from health care team members. The toolkit products included educational materials, environmental adaptations, and sensory-friendly tools. Future research should explore toolkit modifications to allow for implementation across unique ED contexts and assess health care related outcomes to measure toolkit effectiveness.
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7. Khudiakova V, Sin J, Suzuki M, Barnicot K. Lived Experience, Family, and Clinician Perspectives on Barriers to Adult Autism Diagnosis and Post-Diagnostic Supports: A Mixed-Methods Systematic Review. J Dev Phys Disabil. 2026; 38(5): 979-1018.
Obtaining a late Autism diagnosis and post-diagnostic supports can be a long, complicated process. Prior research has explored the perspectives of those with lived experience, family members, and clinicians, but has not yet provided a comparison of their perspectives. This review integrates qualitative and quantitative literature on barriers to diagnosis and post-diagnostic supports from these three perspectives. We also examine barriers reported by gender-diverse and ethnic minority Autistic people. We searched Web of Science, PsycINFO, Embase, Medline, and ProQuest Dissertations & Theses. Study quality was evaluated using Joanna Briggs tools and the Delphi Critical Appraisal Tool. We followed mixed-methods integrative methodology and thematic synthesis approaches to synthesise findings, and GRADE-CERQual to assess confidence in the evidence generated. We included 50 studies on 4487 adult-diagnosed participants, 902 self-identifying participants, 217 family members, and 198 clinicians. Ethnicity and gender identity were scarcely reported. Three analytical themes emerged: recognition and decision-making; negotiation at the interface; and resistance and resolutions. Tensions between stakeholders were seen in several areas, including conflicting views on access to information, diagnostic tools, self-identification, and challenges posed by co-occurring mental health conditions. The GRADE-CERQual appraisal showed moderate-to-high confidence in the findings. Barriers were compounded for gender-diverse and ethnic minority participants. Differences in how barriers (e.g., perceptions of diagnostic practices) are interpreted by stakeholders may themselves hinder access to services. We outline research and clinical implications, including transparent demographic reporting and improved access to information about services. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at https://doi.org/10.1007/s10882-026-10055-x.
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8. Klintenstedt J, Baeck P, Engerström IW, Gunnarsson C. A Heterozygous Variant in the GABBR2 Gene in a Girl With Clinical Classic Rett Syndrome. Mol Genet Genomic Med. 2026; 14(10): e70303.
BACKGROUND: Rett syndrome (RTT) is a neurodevelopmental disorder mainly affecting females and may start with seemingly normal early development but leads to developmental stagnation, regression, and characteristic neurological symptoms. While most cases involve MECP2 variants, other genes have been implicated in RTT and RTT-like phenotypes, but the underlying molecular mechanisms remain incompletely understood. METHODS: We describe a girl fulfilling the clinical diagnostic criteria for classic RTT in whom standard genetic testing, including MECP2 and CDKL5, was normal. Trio-based whole-exome sequencing was used to identify an alternative genetic cause that was confirmed using Sanger sequencing. RESULTS: A heterozygous de novo variant in GABBR2 (NM_005458.7:c.1699G>A; p.Ala567Thr) was identified as the only clinically relevant genetic finding. The patient fulfilled the clinical diagnostic criteria for classic RTT and exhibited developmental stagnation, progressive impairment of purposeful hand use, characteristic stereotypic movements, autonomic dysfunction, and behavioral disturbances. CONCLUSION: This patient expands the phenotypic spectrum associated with GABBR2 variants and, together with previously reported cases, provides further evidence that GABBR2-related disease may present with a clinical RTT phenotype. These findings support a role for GABBR2-mediated GABAergic signaling in the pathophysiology of RTT and highlight the importance of considering GABBR2 in the genetic evaluation of MECP2-negative patients with a clinical RTT phenotype.
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9. Koyutourk B, Deryali D, Turgay A, Zaimagaoglu I, Dalkan C, Ergoren MC. FOXG1 syndrome: genetic background revealed by trio WES in case of a critically ill neonate. Ideggyogy Sz. 2026; 79(9-10): 351-5.
FOXG1 syndrome, also referred to as congenital Rett syndrome, is an autosomal dominant neurodevelopmental disorder characterised by early-onset developmental delay, microcephaly, movement abnormalities, and epilepsy. We report a case of a male infant who presented with hypotonia and abnormal respiratory effort at birth. Due to the non-specific but serious clinical presentation, the infant underwent trio whole-exome sequencing (WES). WES-Trio revealed a de novo heterozygous frameshift mutation in FOXG1 (c.459_460delGG; p.Glu154Glyfs). Despite intensive care, the infant died within 24 hours of birth. This case description emphasises the importance of rapid clinical care through trio WES for ill neonates, where an accurate diagnosis was made possible by identifying a de novo pathogenic variant related to FOXG1 syndrome. Early genetic diagnoses for severe neonatal encephalopathy of otherwise unexplainable aetiology are noteworthy/critical in terms of management and prognosis, and importantly for parental counselling.
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10. Mantell E, Jardine S, Kratz MM, Cave E, Musoke PK, Frohwirth L, Shelton AN, Meissner JS, Greendyke W. Infection prevention and control in residential congregate settings for people with intellectual and developmental disabilities: A learning needs assessment. Am J Infect Control. 2026.
Infection prevention and control (IPC) practices are important to prevent the spread of infectious diseases in congregate residential settings, including group homes for people with intellectual and developmental disabilities (IDD). These settings face unique challenges and often receive fewer IPC resources than other congregate residence types. The New York City Health Department conducted a learning needs assessment comprised of a survey among leadership (n=41) and focus groups with frontline staff (n=9). Results highlight the need for IPC guidance tailored specifically to IDD residential settings.
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11. Ousley C, Bellamy M, Crawford K, Kitsmiller H, Adams A, Pitt K. Effects of Naturalistic Developmental Behavioral Intervention Strategies and Visual Scene Displays on Autistic Children’s Joint Engagement. Am J Speech Lang Pathol. 2026: 1-16.
PURPOSE: Naturalistic developmental behavioral intervention (NDBI) and visual scene displays (VSDs), a type of augmentative and alternative communication (AAC), are research-supported practices focused on naturalistic instruction and increasing social communication skills in young autistic children. The purpose of our study was to extend previous research to understand the effects of embedding VSDs within a dynamic play-based NDBI for young autistic children. METHOD: We employed a randomized multiple-baseline single-case experimental design across three participants to evaluate the effects of (a) NDBI strategies and (b) NDBI strategies plus aided AAC modeling and just-in-time (JIT) programming of VSDs on joint engagement in young autistic children. RESULTS: When NDBI strategies were introduced, there was a large positive effect on child joint engagement and a corresponding large negative effect on child isolated attention. After aided AAC modeling and JIT programming were introduced, child joint engagement and isolated attention outcomes were mixed. CONCLUSIONS: The findings of the current study show promise to using VSDs within dynamic play-based NDBIs as a communication support. Limitations and implications are discussed. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.33916381.
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12. Pope L, Holyfield C, DeLuca T, Schweizer G, Jakobs E, Light J, Semmler BF, Brittlebank S. Integrating an Augmentative and Alternative Communication (AAC) Literacy Feature Into Shared Storybook Reading for Autistic Children Who Need or Rely on AAC. Lang Speech Hear Serv Sch. 2026: 1-17.
PURPOSE: This study explored the impact of integrating an augmentative and alternative communication (AAC) literacy feature (Transition to Literacy [T2L] initial-letter sound feature), adapted to target letter-sound correspondence, within a grid-based AAC topic display on the accuracy of letter-sound correspondence identification by children with autism or autism-like characteristics who need or rely on AAC. METHOD: The study used a multiple-baseline-across-participants single-case experimental design with six participants ages 5-10 years, who had limited or no letter-sound correspondence knowledge (two or fewer letter sounds). RESULTS: All participants demonstrated increased accuracy in identifying target letter sounds from baseline to intervention, although with variability within and across participants. All participants generalized gains from identifying individual letter sounds to identifying initial-letter sounds in written consonant-vowel-consonant words. CONCLUSIONS: Results suggest that interacting with the adapted T2L initial-letter sound feature can support increased letter-sound correspondence knowledge. This feature can be integrated with high-tech AAC systems and may serve as a quick and easy way to provide additional models of formative literacy skills (such as letter-sound correspondence), supplemental to systematic explicit instruction.
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13. Qiao J, Zhou Z, Zhu H, Szigeti K, Kellermayer M, Sun J. Multimodal neuroimaging fusion with hierarchical structure-function coupling for autism spectrum disorder diagnosis. Neuroscience. 2026; 612: 77-89.
Multimodal neuroimaging fusion has gained considerable attention in diagnosing autism spectrum disorder (ASD) due to its ability to integrate complementary information across different modalities. However, most existing approaches rely on simple feature concatenation or late fusion strategies without achieving effective cross-modal coupling, failing to capture the intrinsic relationships between functional and structural information. To address these limitations, this study develops the deep multimodal dual-level coupling (DMDC) framework integrating brain functional and structural information to improve model discrimination capability and interpretability. Specifically, the pyramid-inverted graph-attention network is first proposed to dynamically update graph topological structures with the Top-k node filtering algorithm for function-structure network coupling. Second, the skeleton-based white matter projection method maps functional magnetic resonance imaging (fMRI) signals onto diffusion tensor imaging (DTI) derived white matter skeletons, followed by the multi-layered hierarchical convolutional network for representation extraction. Finally, the weighted feature integration mechanism combines both components, and the neural network with cross-entropy loss optimization is employed for ASD identification. Extensive experiments show DMDC outperforms state-of-the-art methods. Key discriminative regions identified include the hippocampus, anterior cingulate cortex, amygdala, and frontal gyri. Both hyperconnectivity and hypoconnectivity were observed in ASD, especially in prefrontal cortex, amygdala, and hippocampus, which were critical for social and emotional processing. The proposed framework demonstrates robust diagnostic performance and provides reliable biomarkers for neurological assessment. The identified regions and connectivity patterns offer insights into ASD neural mechanisms and potential diagnostic biomarkers.
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14. Rodrigues Costa M, Ferreira LFB, Fernandes AC, Oliveira Souto D, Leite HR, Rodrigues de Sousa Junior R. Task-Specific Training in Children With Autism Spectrum Disorder: Systematic Review With Meta-Analysis. Pediatr Phys Ther. 2026.
PURPOSE: This systematic review examines the efficacy of task-specific training for children and adolescents with autism spectrum disorder (ASD). SUMMARY OF KEY FINDINGS: A search for randomized controlled trials was conducted in relevant databases. Risk of bias was assessed using the risk-of-bias tool scale, and the certainty of evidence was evaluated with the Grading of Recommendations Assessment, Development, and Evaluation system. Data were analyzed using random-effects meta-analyses. Four studies were included. Task-specific training improved gross motor skills and body functions such as agility, coordination, strength, and balance in children with ASD. However, the level of evidence remains very low to low due to small sample sizes and methodological limitations. CONCLUSION: Although task-specific training may benefit children with ASD, the evidence base is weak. Further high-quality studies are needed to replicate these findings and determine the optimal dosage. RECOMMENDATIONS FOR PRACTICE: Clinicians should use task-specific training cautiously due to its level of evidence. Future research should prioritize well-designed randomized controlled trial with larger sample sizes.
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15. Song C, Chang T, Buchborn T, Knöpfel T. Psilocybin enhances sociability only in altered behavioural state and does not need an awake experience to be effective. Nat Commun. 2026; 17(1).
Psilocybin, a psychoactive compound contained in certain mushrooms, can provoke profound psychedelic experiences and also exerts established and controversial therapeutic efficacy in clinical depression and other neuropsychiatric conditions respectively. Here we report that a single systemic administration of the serotonergic psychedelic psilocybin can durably promote social behaviour in the Cntnap2-knockout mouse model of autism spectrum disorder (ASD), while no increase in sociability is observed in isogenic control mice. Addressing the concern that the therapeutic actions of psilocybin may involve potentially adverse psychedelic effects, we tested drug application in anesthetised mice and found that awake brain states are not required for psilocybin’s sociability enhancing actions in ASD mice.
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16. Sturner R, Bergmann P, Howard B, Robins D, Bet K, Attar S. Exploring the Potential of Parent Report for Autism/Developmental Screening at the 18-Month Visit. J Autism Dev Disord. 2026.
PURPOSE: To develop optimal algorithms of parent-administered items to improve the detection of autism and other developmental disorders at the 18-month visit. METHODS: Parents of 11,878 children aged 16-20 months completed the M-CHAT-R/F(™), Q-CHAT-10-O, and ASQ-3(R) at scheduled 18-month pediatric visits via an online system. Ninety-six children with positive screens and 314 matched controls completed additional items, including the POSI; items from the FYI and POEM data banks, and the MacArthur-Bates Communicative Development Inventory (MCDI) with short-form vocabulary. Diagnostic testing was conducted using the ADOS-2 Toddler Module and the Mullen. We evaluated a set of machine learning (ML) models predicting autism and Developmental Delay (DD). Model training used tree-based modeling under the gradient boosting framework with feature selection via the Boruta method with Shapley values and Bayesian hyperparameter optimization and synthetic data based on ~50% of our authentic data (n = 201), resulting in a synthetic training dataset of 25,000 cases and a synthetic validation dataset of 12,500 cases, each with > 90% accuracy. We evaluated the performance of top autism/Delay models using the authentic holdback sample (n = 202). RESULTS: The resulting model includes expressive vocabulary and items representing joint attention. CONCLUSIONS: The model appears to be approximately twice as sensitive to autism as the M-CHAT-R-F and twice as sensitive as the ASQ-3 for DD. The TADAS model shows promise as being the only screen for that age with the generally recommended performance of over .7 for both sensitivity and specificity for both autism and DD.
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17. Zhang N, Xue L, Chai S, Wang T, Jiang Y, Lei J, Wei H. Esculetin ameliorates autism-like behaviors in GABAergic neuron-specific Pax2 knockdown mice, accompanied by reduced Wnt/β-catenin signaling. Neuroscience. 2026; 612: 63-76.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder with an unclear pathogenesis. Growing evidence implicates excitatory/inhibitory (E/I) imbalance in ASD pathophysiology, prompting an investigation into gamma-aminobutyric acid (GABA)-mediated inhibitory transmission. The transcription factor Paired Box 2 (Pax2), essential for GABAergic interneuron specification, participates in the regulation of neural developmental processes. Our previous work demonstrated an E/I imbalance in the neurotransmitter system and reduced GABA(A)Rα2-positive neurons in the prefrontal cortex (PFC) of Pax2 neuron-specific deletion mice, though the internal molecular regulatory mechanism remained elusive. In this study, we generated GABAergic neuron-specific Pax2 knockdown mice via injection of AAV-shPax2 virus and comprehensively evaluated ASD-related behaviors, revealing autism-like behaviors, such as impaired social novelty and repetitive behaviors. Molecular analysis revealed upregulation of Tcf7l2, a key downstream mediator of the Wnt/β-catenin signaling pathway. Functional assessment confirmed hyperactivation of the Wnt/β-catenin signaling pathway in GABAergic neuron Pax2 knockdown mice. Notably, pharmacological intervention with esculetin, an inhibitor of the Wnt/β-catenin pathway, ameliorated the observed autism-like behaviors. These findings establish a pathogenic axis wherein GABAergic neuron-specific Pax2 deficiency induces hyperactivation of the Wnt/β-catenin signaling pathway and disrupts E/I balance, ultimately driving autism-like behavioral phenotypes. Our results further identify inhibition of Wnt/β-catenin signaling as a promising therapeutic strategy for ASD.