Pubmed (TSA) du 04/11/26
1. Andersson Grönlund M, Billstedt E, Kraemer M, Muz N, Dahlgren J. Cognitive profile, autistic traits, visual perception, and visual evoked potential findings in Silver-Russell syndrome. Appl Neuropsychol Child;2026 (Nov 4):1-11.
Silver-Russell syndrome (SRS) is a rare imprinting disorder primarily characterized by growth restriction, but its broader neurodevelopmental phenotype remains incompletely described. We evaluated autistic traits, cognitive function, visuospatial abilities, visual acuity, and visual evoked potentials (VEPs) in children and young adults with SRS. A multidisciplinary team in Gothenburg, Sweden, assessed 24 individuals with SRS. Age-appropriate cognitive assessments were performed and autistic traits were assessed using parental questionnaires and medical records. Perceptual visual dysfunctions (PVDs) were compared with 112 matched controls from a previous study in Gothenburg. The median age was 9.3 years (range 3.4-17.1) at the cognitive assessment and 11.7 years (range 3.4-22.1) at the ophthalmological examination. Intelligence quotient (IQ) scores ranged from 66-142 and 9/24 scored below 85. Verbal-performance IQ discrepancies of ≥15 points were observed in 12/22 individuals. Six boys reached the Autism Spectrum Screening Questionnaire cutoff scores or had an established autism spectrum disorder diagnosis. PVDs were recorded in 5/21 individuals and 4/112 controls (p = 0.008). There were 10/16 patients with abnormal VEPs: three had PVDs and four showed verbal-performance IQ discrepancies. Most individuals with SRS showed normal overall IQ, but neurodevelopmental concerns, impaired visual perception and abnormal VEPs were common. Regular follow-up visits are recommended.
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2. Ausderau KK, St John BM, Hladik L, Kant S, Novak P, Romaniak H, Veltus J. The Engaged Eaters Program pilot study: A caregiver-mediated intervention for feeding and mealtime challenges in autistic children. Res Autism;2026 (May);133
Feeding challenges for autistic children are heterogeneous, often including aversions to various sensory food properties, and unique eating patterns that are different from other family members. This pilot study aimed to evaluate the effectiveness of the Engaged Eaters Program in achieving mealtime goals for families with autistic children who have feeding challenges. Using a quasi-experimental, one-group pre-posttest design, twenty-nine caregiver-child dyads participated in the Engaged Eaters Program: a 6-month caregiver-mediated feeding intervention (caregiver coaching, direct intervention, and caregiver training) delivered in-home (n = 13) or via telehealth (n = 16). Goal Attainment Scaling (GAS) T-scores were calculated to evaluate the effectiveness of the intervention. Caregiver-child dyads achieved significantly higher outcomes than expected based on standardized GAS T-scores, M = 58 (SD=13), t(28) = 3, p = .002 overall. No significant difference was detected between the in-home delivery method, 61 (SD = 12), and the telehealth delivery method, 55 (SD = 14), t(27) = 1, p = 0.223. The study findings can inform future efficacy testing and provide initial evidence for the caregiver-mediated intervention in improving eating skills and mealtime behaviors in autistic children, utilizing multiple delivery methods. The results support the use of family-centered interventions in ecologically valid contexts for addressing mealtime challenges.
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3. Ayoub R, Ben Abid H, Bourgou S, Hadj Kacem I, Halayem S, Khemekhem K, Charfi F, Bouden A. Development and contextual adaptation of the first national clinical practice guideline for autism spectrum disorder in children and adolescents in Tunisia. Front Psychiatry;2026;17:1926851.
INTRODUCTION: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition requiring long-term, coordinated, and multidisciplinary care. Although ASD services in Tunisia have improved, coordination across health, education, and social sectors remains limited, affecting equitable access and continuity of care. This study aimed to develop a national, evidence-based clinical practice guideline for the screening, diagnosis, and management of children and adolescents with ASD adapted to the Tunisian healthcare context. ASSESSMENT OF GUIDELINE DEVELOPMENT AND PRACTICE IMPLICATIONS: The guideline was developed by the Tunisian Society of Child and Adolescent Psychiatry and accredited by the National Authority for Evaluation and Accreditation in Health. Using the ADAPTE framework, a multidisciplinary panel adapted international ASD guidelines to the Tunisian context. After systematic searches and AGREE II appraisal, the 2023 Singapore ASD guideline was selected as the main source document. Recommendations were adopted, adapted, or newly developed according to contextual relevance and applicability. An additional literature search was performed to incorporate high-level evidence published between June 2023 and January 2025. ACTIONABLE RECOMMENDATIONS: The final guideline includes 96 evidence-based recommendations and 87 good practice points organized into ten chapters, covering the screening, diagnosis, intervention, and follow-up of autism spectrum disorder in children and adolescents across all levels of care in Tunisia. This article summarizes the key practice-oriented recommendations across these chapters. CONCLUSION: This first Tunisian ASD guideline aims to harmonize practices, improve the quality of care, and strengthen integrated care pathways.
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4. Hasegawa K, Sasayama D, Honda H, Kikuchi N, Hondo T, Itakura K, Watanabe T, Washizuka S. Associations between neurodevelopmental traits and perinatal depression: a prospective study in Japanese women. Arch Womens Ment Health;2026 (Nov 4);29(6)
PURPOSE: This study examined how attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) traits relate to depressive symptoms from late pregnancy through early postpartum in Japanese women, alongside perinatal factors. METHODS: In a multicenter prospective study, 1,104 women completed questionnaires at late pregnancy (T1), 2 weeks postpartum (T2), and 1 month postpartum (T3). Depressive symptoms were assessed using the Edinburgh Postnatal Depression Scale (EPDS), ADHD traits with the Adult ADHD Self-Report Scale (ASRS), and ASD traits with the Autism Spectrum Quotient (AQ). Chi-square tests evaluated timepoint-specific associations, multivariable logistic regression identified independent predictors of EPDS positivity at T2, and a linear mixed-effects model assessed longitudinal changes. RESULTS: EPDS scores and EPDS positivity were highest at T1 and declined postpartum (16.7%, 8.6%, 4.0%). Scores were correlated across timepoints. In univariate analyses, antenatal EPDS positivity showed associations with ASD traits (AQ+: OR = 6.08, 95% CI 2.17-16.99) and ADHD traits (ASRS+: OR = 4.86, 95% CI 3.06-7.72). In multivariable analysis, independent predictors of EPDS positivity at T2 included ADHD traits (OR = 1.37, 95% CI 1.13-1.66), primiparity, psychiatric treatment history, and antenatal EPDS scores. ASD traits were not associated with T2 EPDS positivity after adjustment for antenatal EPDS scores. In the mixed-effects model, both ADHD and ASD traits were associated with higher EPDS scores during pregnancy, with attenuated effects postpartum. CONCLUSION: Neurodevelopmental traits are associated with perinatal mental health, and trait- and timing-informed support may enhance maternal psychological stability and caregiving outcomes.
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5. Hickey EJ, DaWalt LS, Szidon K, Taylor JL, Mailick MR. Career Patterns of Adults with Autism Through Late Midlife. Res Autism;2026 (May);133
Little is known about the long-term careers of adults with autism. Here we report the employment patterns of adults with autism based on their engagement in distinct categories of employment (agency-based, supported, and competitive employment) from young adulthood through midlife. Persistent patterns of unemployment or unstable employment were also tracked across these life stages. The current study drew data from a longitudinal study of adults with autism and their families, and focused on those for whom at least four points of data were available on employment after high school exit across an average of 14 years (n=217 adults with autism; 155 with intellectual disability [ID], 62 without ID; average age of the autistic adults at their first available time point after high school exit was 26.23 (SD=7.14), range: 18-48; and, at their final available time point was 40.94 (SD=8.97), range: 25-68). Five mutually-exclusive career categories emerged from a consensus coding process: 1) Primarily unemployed (16% of the sample); 2) Primarily agency-based employment (48%); 3) Primarily supported employment (11%); 4) Primarily competitive employment (12%); and 5) Unstable employment (13%). Descriptive results suggest that adults with autism who do not have ID may be at particular risk for unemployment (23%) or unstable patterns of employment (20%), although nearly the same percentage had sustained competitive employment (37%), while those who had ID often had an agency support system that helped maintain engagement in work (64%). Our study can inform employment expectations and planning for adults with autism, their family members, and vocational and transition support staff.
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6. Kumari AP, Karati S, Das S, Khandelwal S, Patel M, Kumar A. Itraconazole and Lacosamide Combination Therapy Rescues CGG Repeat Expansion Induced Neurotoxicity in Fragile X-Associated Tremor/Ataxia Syndrome. ACS Chem Neurosci;2026 (Nov 4);17(21):3562-3581.
Carriers of the fragile X messenger ribonucleoprotein 1 (FMR1) gene have an elevated risk of developing Fragile X-associated tremor/ataxia syndrome (FXTAS), a progressive late-onset neurodegenerative disorder. Expansion of CGG trinucleotide repeats within the 5′ untranslated region leads to RNA-mediated toxicity and promotes the aggregation of toxic FMR1polyglycine (FMR1polyG), driving neuronal dysfunction and degeneration. Yet, effective therapies that alter disease progression remain lacking. In this study, we evaluated a drug repurposing strategy to modulate FXTAS pathogenesis by targeting CGG repeat RNA structures using Itraconazole (ITZ), a clinically approved antifungal, in combination with Lacosamide (LCM), an established antiepileptic drug. The ITZ+LCM combination significantly reduced FMR1polyG aggregation and attenuated oxidative stress and cell death in an in vivoDrosophila model of FXTAS. Notably, this combination also improved locomotor performance and extended the lifespan of model flies, with a fourfold reduction in the effective ITZ dose. These findings were further validated at the cellular level using (CGG)99 transfected HEK293T and COS-7 cells, wherein the ITZ+LCM treatment suppressed FMR1polyG aggregation and corrected CGG repeat splicing defects. Biophysical studies revealed the selective interaction of the drug combination with CGG-expanded RNA. These findings identify the ITZ+LCM combination as a promising, clinically translatable therapeutic strategy against FXTAS to counter RNA-mediated neurotoxicity.
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7. Layton C, Rivera R, Kurumada C, Allen P, Bennetto L. « Do You Need Something or Am I Just Listening to You? »: A Qualitative Content Analysis of Prosody-Related Social Communication Challenges in Autistic Young Adults. J Autism Dev Disord;2026 (Nov 4)
PURPOSE: Prosody-the rhythm, timing, and intonation of speech-helps listeners interpret a speaker’s emotion and intent, yet autistic people’s lived experiences of prosody-related misunderstandings remain poorly understood. This study examined how autistic young adults experience prosody-related communication challenges in daily life and identified priorities for future research. METHODS: Participants were 69 autistic young adults who completed survey items assessing perceived difficulty understanding prosodic cues and the frequency with which these difficulties created problems in daily life, followed by open-ended questions. Quantitative responses were summarized descriptively and compared with a non-autistic comparison group (N = 39), and autistic participants’ free-text responses were analyzed using inductive qualitative content analysis. RESULTS: Autistic participants reported significantly greater difficulty understanding prosody and more frequent prosody-related problems than non-autistic participants. Qualitative analysis organized responses into five descriptive domains: types of interactions in which difficulties occur, focus of misunderstanding, contextual factors shaping these difficulties, communication strategies used to mitigate misunderstandings, and social impact. Participants described challenges interpreting emotional tone, sarcasm, teasing, and question-statement distinctions across social and professional contexts, as well as the importance of speaker variability, familiarity, environmental demands, and collaborative repair strategies. Prosody-related misunderstandings were described as affecting self-confidence, relationships, and workplace functioning. Participants also emphasized the need for future research to examine prosody using more naturalistic, bidirectional, and context-sensitive methods. CONCLUSION: These findings suggest that prosody-related challenges in autism are heterogeneous and context-dependent, with important implications for research and support.
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8. Ozyazici K, Aydin S, Emre O, Can E. Quality and Reliability of YouTube Videos as a Source of Information Regarding Early Signs of Autism Spectrum Disorder. J Autism Dev Disord;2026 (Nov 4)
BACKGROUND: YouTube is a widely used source of health information, but the quality of videos on early signs of autism spectrum disorder (ASD) remains unclear. METHODS: A cross-sectional content analysis of 50 English-language YouTube videos on early signs of ASD was conducted. Video quality and reliability were assessed using the Global Quality Scale (GQS), modified DISCERN, and JAMA benchmark criteria. Source Videos were categorized by source (Expert-created, parent-created, and mixed-source). RESULTS: Expert-created and mixed-source videos scored significantly higher than parent-created videos on the modified DISCERN and GQS scales (p < .001 for both). On the JAMA criteria, the overall group difference was smaller (p = .028); only the mixed-source group differed significantly from the parent-created group, while expert-created videos did not differ significantly from either group. Most videos (74%) covered all four early symptom domains. No significant correlation was found between quality scores and popularity metrics (views, likes). The three source types did not differ significantly in the number of early-sign domains covered (H(2) = 2.628, p = .269). Effect sizes were large for DISCERN (ε² = 0.424) and GQS (ε² = 0.511). CONCLUSIONS: YouTube videos on early signs of ASD vary widely in quality. Parent-created content is significantly less reliable. Clinicians and content developers should consider that expert-created, parent-created, and mixed-source videos serve complementary informational functions rather than a single hierarchy of quality. Co-produced content that combines professional expertise with parental narrative may offer practical value beyond what either source provides alone.
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9. Parrella NF, Hill AT, Enticott PG, Downey LA, Catchlove S, Ford TC. Cannabidiol and fronto-parietal EEG connectivity in autistic children. Cereb Cortex;2026 (Nov 4);36(11)
Autistic children often show altered brain network connectivity, including circuitry implicated in social cognition. Cannabidiol (CBD) has emerged as a potential therapy for autism, but its neural mechanisms remain under-researched. Here, we analyze resting-state data collected as part of a double-blind, placebo-controlled crossover trial, to explore whether 12 weeks of oral CBD oil could modulate functional connectivity in autistic children. Twenty-nine autistic children (5 to 12 years) completed two 12-week intervention periods (CBD and placebo, randomized) separated by an 8-week washout. Before and after each period, 5 min of eyes-open resting-state electroencephalography (EEG) were obtained from a subset of 18 participants (8 female). Functional connectivity was calculated across 16 electrode-pairs in the delta, theta, alpha, beta, and gamma bands. Beta-band connectivity between the right frontal and right inferior-parietal electrodes increased following CBD (P = 0.001, false discovery rate [FDR]-corrected P [pFDR] = 0.022), and alpha connectivity showed an increase that did not remain following FDR correction (P = 0.036, pFDR = 0.428). No significant differences were observed following placebo for any frequency band (pFDR > 0.69). This study provides preliminary evidence that 12 weeks of cannabidiol is associated with an increase in right fronto-parietal (F4-P8) functional connectivity in autistic children, most pronounced in the beta-band. Replication in larger samples is needed to confirm generalizability and clinical relevance. This study explored whether cannabidiol (CBD) oil changes brain communication in autistic children. After 12 weeks, children showed stronger activity links between brain regions involved in attention and social understanding, while placebo did not show this pattern. These early findings suggest CBD may influence brain function in ways that could support behavior, but larger studies are needed to confirm real-world benefits. eng
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10. Shiari A, Al-Sharif HZ, Zaied AA, Zurob AS, Wlliams CD. Use of Hypoglossal Nerve Stimulation for Obstructive Sleep Apnea in Adults With Intellectual and Developmental Disabilities. Wmj;2026;125(4):457-461.
INTRODUCTION: The objective of this study was to assess the safety, efficacy, and patient satisfaction of hypoglossal nerve stimulation (HNS) therapy as an alternative to continuous positive airway pressure therapy for obstructive sleep apnea in adults with intellectual and developmental disabilities (IDDs), including trisomy 21 and cerebral palsy. METHODS: We conducted an observational study of 4 adults with IDDs and moderate to severe obstructive sleep apnea who underwent implantation of an HNS device. Patient demographic characteristics, device usage, obstructive sleep apnea and daytime sleepiness outcomes, and patient satisfaction scores were retrospectively reviewed and analyzed. RESULTS: The mean adherence rate was 92.3%. The mean [SD] pretreatment apnea-hypopnea index was 39.0 [16.7] events per hour, which decreased to 8.5 [4.7] event per hour after treatment, representing a mean [SD] reduction of 77.5% [12.9%]. Epworth Sleepiness Scale scores decreased in 2 patients, were unchanged in 1 patient, and increased in 1 patient. Patient-reported satisfaction was high, with mean [SD] scores of 5.0 [0.0] for comfort, ease of deactivation, and effectiveness and 4.5 [0.6] for ease of activation. CONCLUSIONS: Treatment of obstructive sleep apnea with HNS was associated with decreased apnea-hypopnea index values and was well tolerated among adults with IDDs, suggesting that it may be a viable alternative to continuous positive airway pressure therapy for patients who cannot tolerate conventional treatment. However, the variable Epworth Sleepiness Scale findings and small sample highlight the need for larger studies with long-term follow-up to further evaluate the safety and effectiveness of HNS in this population.
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11. Straiton-Webster D, Moeyaert M, Greatorex J, Ewell A, Ingersoll B. Examining the Active Ingredients of Consultation: Effects of Discrete Consultation Components on Implementation Outcomes for an Autism Intervention in a Community Mental Health System. J Autism Dev Disord;2026 (Nov 4)
PURPOSE: We examined the extent to which group consultation training activities (i.e., case support, skill rehearsal via role play, and performance feedback using videotapes) were associated with improvements in clinician fidelity (i.e., manual adherence and competence) and case penetration (i.e., proportion of eligible clients receiving the intervention) for a caregiver coaching intervention for autism (Project ImPACT) in a community mental health system. METHODS: We observed twenty clinicians across six agencies, scoring clinician fidelity from videotapes of 154 telehealth sessions with 21 families of Medicaid-enrolled autistic children. We utilized two-level multilevel models to examine (a) the effect of discrete consultation components on manual adherence and five caregiver coaching domains, and (b) the effect of group consultation on case penetration. RESULTS: None of the consultation components were associated with changes in manual adherence. Competency scores for reflective coaching skills in the Performance Feedback phase were 0.32 points higher than those in the Baseline phase, t (62.12) = 2.65, p = .01. No other consultation components were associated with changes in competency. Case penetration did not significantly change during the Baseline phase, but significantly increased in the Consultation phase, t (275.29) = 3.45, p < .001. CONCLUSION: To improve clinician fidelity in under-resourced settings, performance feedback should be emphasized in consultation. CLINICAL TRIAL REGISTRATION: This trial was registered at ClinicalTrials.gov (ID: NCT04654117).
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12. Xiao J, Choi HM, Yim G, Rogne T, DeWan AT, Chavarro JE, Weisskopf MG, Liew Z. Maternal cesarean section and offspring ASD or ADHD risk: a Nurses’ Health Study II analysis. Am J Epidemiol;2026 (Nov 4);195(11):2814-2821.
Epidemiological evidence on whether cesarean delivery influences offspring neurodevelopment remains inconsistent. We evaluated the associations between maternal cesarean delivery and childhood autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) in the Nurses’ Health Study II cohort. We included 29 352 mothers and their children in the ASD analysis and 27 704 in the ADHD analysis. We used generalized estimating equations to estimate the odds ratio (OR) and 95% confidence interval (CI) for the child outcomes according to the mode of delivery. We evaluated confounding effects from maternal demographic and reproductive factors, chronic health and pregnancy complications, previous cesarean delivery, and lifestyle factors. We examined current cesarean delivery in combination with the history of mode of delivery, and we performed a sibling comparison analysis to evaluate the influence of uncontrolled confounding. Despite some suggestions in crude analyses, there was no association between birth by cesarean delivery and child ASD (OR = 1.02, 95% CI, 0.81-1.29) nor ADHD (OR = 1.06, 95% CI, 0.95-1.18) in fully adjusted models. Analyses considering maternal history of cesarean deliveries or comparing the siblings did not change the main findings. Our study does not support the hypothesis that birth by cesarean delivery increases the risk of ASD or ADHD.
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13. Xu K, Gao J, Huai L, Lou Y, He W, Cheng J, Xu Y, Zhai H. [Genetic analysis of an asymptomatic pedigree carrying a frameshifting variant of MECP2 gene]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi;2026 (Nov 10);43(11):836-841.
OBJECTIVE: To analyze a Chinese pedigree with asymptomatic carriers of a frameshift variant of MECP2 gene. METHODS: A three-generation pedigree presenting at the Hangzhou First People’s Hospital Affiliated to Westlake University School of Medicine in September 2024 due to intrauterine fetal demise was retrospectively analyzed. Clinical data of the pedigree were collected, and whole-exome sequencing (WES) was carried out. Carriers of the MECP2 variant underwent physical examination, psychological assessment, cranial magnetic resonance imaging, and X-chromosome inactivation assay. Pathogenicity of the candidate variant was rated based on the ClinGen Rett and Angelman-like Disorders Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines (Version 2). This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 2025ZN4821). RESULTS: The aborted fetus was found to have a 45,X karyotype and harbored a c.1155_1200del frameshift variant of the MECP2 gene. Sanger sequencing confirmed that the husband and his mother both carried the same variant, which was classified as pathogenic based on the ClinGen disease-specific guidelines (PSV1+PS4_Moderate). Clinical evaluation revealed no typical somatic or neurological signs of Rett syndrome in both individuals. Psychological assessment showed unremarkable findings in the husband but prominent obsessive-compulsive symptoms in his mother. Cranial MRI also revealed no characteristic brain lesions of Rett syndrome in either of them. The mother presented markedly skewed X chromosome inactivation with a ratio of 16:84. CONCLUSION: Although MECP2 c.1155_1200del was classified as a pathogenic variant, carriers of the variant may present with no clinical manifestations. The markedly skewed X chromosome inactivation in the husband’s mother cannot explain the absence of RTT-related phenotypes in her son. Given that MECP2 c.1155_1200del bears molecular features consistent with a benign variant, the variant itself has limited pathogenic effect.