1. Baldwin I, McCarthy AM. Securing Patient-Centered Decision Making With Adults With Intellectual and Developmental Disabilities. Ann Intern Med. 2026.

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2. Chen L, Mei Z, Cai C, Yin T, Xiang Y. The longitudinal relationship between physical activity and social skills in children with autism: Basic psychological need satisfaction in exercise as a potential pathway. Res Dev Disabil. 2026; 176: 105362.

OBJECTIVE: To examine the longitudinal association between physical activity and social skills in children with autism and evaluate basic psychological need satisfaction in exercise as a potential longitudinal indirect pathway. METHODS: A three-wave longitudinal study was conducted in seven special education schools in Sichuan, Hunan, and Yunnan, China. Data were collected in November 2025, February 2026, and May 2026 at three-month intervals. Primary caregivers completed all questionnaires. After excluding attrition cases and invalid responses, 584 valid cases were retained. Physical activity, basic psychological need satisfaction in exercise, and social skills were assessed using validated Chinese scales. Measurement invariance testing and fixed-effect cross-lagged panel modeling were supplemented by a longitudinal latent-variable model, demographic- and physical-activity-scaling sensitivity analyses, and random-effects cross-lagged panel modeling. RESULTS: The preliminary bivariate CLPM showed inadequate global fit; therefore, its path coefficients were not used for substantive inference. In the primary three-variable longitudinal model, physical activity showed consistent positive prospective associations with social skills across both adjacent intervals (β = 0.274 and 0.169, respectively; both p < 0.001). T1 physical activity was positively associated with T2 basic psychological need satisfaction in exercise (β = 0.105, p = 0.002), which was subsequently associated with higher T3 social skills (β = 0.188, p < 0.001). This pathway yielded a small positive standardized indirect effect (effect = 0.020, 95% CI [0.007, 0.039], p = 0.015). The directly estimated association between T1 physical activity and T3 social skills also remained positive (effect = 0.137, 95% CI [0.068, 0.213], p < 0.001), indicating that basic psychological need satisfaction in exercise accounted for part, but not all, of the longitudinal association. The focal indirect effect was replicated in the longitudinal latent-variable, covariate-adjusted, and alternative physical-activity-scoring analyses, with estimates ranging from 0.022 to 0.029. The targeted random-effects model yielded a comparable point estimate (0.022), although with greater uncertainty (95% CI [-0.012, 0.056]). CONCLUSION: These findings position physical activity as a recurring developmental context associated with later social-skill development in children with autism and indicate that basic psychological need satisfaction in exercise may modestly help explain this longitudinal relationship. They further suggest that the social-developmental relevance of physical activity may depend partly on whether participation supports autonomy, competence, and relatedness, underscoring the importance of considering the psychological quality of participation alongside activity volume.

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3. Doherty M, Rebowska A, Grosjean B, Kinnear M, Dakin C, Porter S, Sadiq K, Greeter S, Henderson J, Wijetilleka S, Hill H, Rabenstein K, Mayer L. Two more elephants in the room: autistic psychiatrists and autistic shame. Br J Psychiatry. 2026: 1-2.

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4. Ellis M, Jones AT, Rankin P, Bernard A, Thorpe K, Glozier N, Staton S. Exploring the Relationship Between Age of Nap Cessation, Screen-Positive Autism Spectrum Disorder Traits and Diagnosis of Attention-Deficit Hyperactivity Disorder. J Autism Dev Disord. 2026.

PURPOSE: This study examined whether the age of nap cessation (the transition from daytime napping to sleeping exclusively at night) is associated with screen-positive Autism Spectrum Disorder (ASD) traits or an Attention-Deficit Hyperactivity Disorder (ADHD) diagnosis in children. METHODS: This retrospective cohort study used data from the Avon Longitudinal Study of Parents and Children (ALSPAC), a population-based birth cohort recruited between 1991 and 1992. The analytic sample included 6,424 children with available nap cessation and covariate data. Parents reported children’s nap patterns at 6, 18, 30, 42, 57, 69, and 81 months. Binary logistic regression examined associations between age of nap cessation and later ASD traits or ADHD diagnosis. Models adjusted for gestational age, birth weight, maternal age, child sex, maternal ethnicity, older siblings, social class, and maternal alcohol use during pregnancy. RESULTS: Children who ceased napping by 18 months had higher odds of an ADHD diagnosis at age seven than those who ceased at 30 months (OR = 5.54, 95% CI [2.52, 11.20], p < .001). Nap cessation at 18 months was also associated with increased odds of ASD traits, although the estimate was less precise (OR = 1.81, 95% CI [0.96, 3.16], p = .051). CONCLUSIONS: Early nap cessation may be associated with later ADHD diagnosis and could reflect differences in sleep regulation. A possible association with elevated ASD traits was also observed but remains uncertain and should be considered exploratory pending replication. Nap cessation timing should not be interpreted as an early screening or diagnostic marker.

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5. Gebeyehu S, Mommers M, Hussen S, Spigt M. Why are the implementation of and access to child developmental assessment within routine healthcare so difficult in Ethiopia? A descriptive qualitative study. PLoS One. 2026; 21(8): e0355686.

INTRODUCTION: Developmental delays in early childhood present significant long-term challenges, making early developmental assessment crucial for effective intervention. Despite this, such assessments are not routinely implemented within routine healthcare services in Ethiopia. This study examines the barriers and facilitators affecting both the provision and accessibility of developmental assessments by exploring the experiences of health professionals and parents of under-five children. METHODS: A descriptive qualitative study was conducted in the Gamo Zone, South Ethiopia, between August 2023 and January 2024. Twenty semi‑structured Key Informant Interviews (KII) were undertaken with purposively selected key informants, including one zonal maternal and child health (MCH) focal person, two MCH officers, two MCH coordinators, two pediatricians, three pediatric nurses, four general practitioners, and six parents of children under five years of age. All interviews were audio‑recorded, transcribed verbatim, and analyzed using ATLAS.ti 7. A thematic analysis approach was applied to identify barriers and facilitators influencing the provision and accessibility of child developmental assessments. FINDINGS: Health professionals reported challenges that hindered the delivery of effective developmental assessments, including poor infrastructure, limited government commitment, funding shortages, and insufficient knowledge and technical skills regarding developmental delays and assessment procedures. Conversely, the structured layout of the existing health‑care system and an established referral pathway were reported as operational facilitators to support the provision of these services. Parents described barriers to accessing developmental assessments, including low socioeconomic status, prevailing community beliefs, societal attitudes, and stigma toward children with developmental delays. Encouragingly, broad community trust in and acceptance of routine child health programs emerged as an important facilitator that improved access to developmental assessment services. CONCLUSION: Improving the integration of developmental assessment into Ethiopia’s routine child health services requires addressing both system‑level shortcomings and the social realities that shape families’ access to care. A practical, implementation‑focused approach, one that strengthens frontline capacity, reinforces existing health‑system structures, and builds on community trust, offers the most promising path forward. With coordinated commitment, developmental assessment can shift from a neglected service to a reliable and sustainable part of pediatric care.

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6. Guy J, Hein E, Alexander-Howden B, von Bock Und Polach T, Mathieson T, Kleinstiver BP, Zoghbi HY, Bird A. Translational reading frame predicts the pathogenicity of C-terminal frameshift deletions in MeCP2. Elife. 2026; 14.

Mutations in the MECP2 gene cause the severe neurological disorder Rett syndrome. A cluster of frameshift-causing C-terminal deletions (CTDs) removes ~100 amino acids and accounts for approximately 10% of RTT-causing mutations. Their pathogenicity is unexpected because this C-terminal domain is dispensable in mice. Analysis of pathogenic and benign human MECP2 variants reveals that some individuals with apparently typical CTDs do not develop Rett syndrome, confirming that C-terminal truncations are not intrinsically pathogenic. Using human sequence data and mouse models we show that pathogenicity results from a marked reduction in MeCP2 levels and depends on the presence of a proline proline stop motif (-PPX) generated by a shift to the +2 reading frame. CTDs that shift to the +1 frame avoid this motif and are benign. Replacing the stop codon of the PPX motif with tryptophan restores MeCP2 expression and rescues RTT-like phenotypes in a CTD mouse model. An adenine base editor efficiently introduces this substitution in cultured cells. These findings define a reliable prognostic distinction between benign and pathogenic CTDs and establish a potential editing strategy for correcting disease-causing CTD mutations.

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7. Lumsden DE, Martin K, Shetty J. The Nomenclature of Rett Syndrome in the Context of the Spectrum of MECP2-Related Disorders. Mov Disord Clin Pract. 2026.

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8. McEwen FS, Runicles AK, Liang H, Woodhouse E, Underwood L, Shephard E, Barker ED, Sheerin F, Steenbruggen JW, Yates JRW, Tye C, Bolton PF. Developmental pathways to autism in tuberous sclerosis complex: Evidence from a longitudinal cohort. Epilepsia. 2026.

The association between autism spectrum disorder (hereafter referred to as autism) and tuberous sclerosis complex (TSC) is well established, yet the developmental pathways linking genetic mutation, cortical pathology, and epilepsy with autism remain unclear. The Tuberous Sclerosis 2000 Study recruited children newly diagnosed with TSC (N = 125). Data on mutation status, cortical tuber burden (magnetic resonance imaging/computed tomography), seizure history, and cognitive ability were collected. Approximately 10 years later, follow-up assessments of autism, cognitive ability, and epilepsy were completed (n = 86). Almost 40% of participants met diagnostic criteria for autism, with an additional 42% showing elevated autistic traits. Structural equation modeling identified two indirect pathways linking TSC1/TSC2 mutation with the autism factor score: one via higher cortical tuber burden and infantile spasms and one via spasms alone. Concurrent seizure severity and lower intelligence quotient scores were also associated with higher autism factor scores. These findings provide preliminary longitudinal evidence supporting developmental associations between genetic vulnerability, cortical pathology, and early severe epilepsy with later autism. This highlights the importance of further investigation of early epileptic activity and associated neurodevelopmental outcomes in TSC and may inform understanding of epilepsy-related pathways associated with autism.

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9. Palombo CNT, Oliveira FA, Araújo R, Souza LF, Almeida MDS, Oliveira CVR. Child-Friendly Neighborhood for Early Childhood: a cross-sectional study on child development and urban infrastructure. Rev Esc Enferm USP. 2026; 60: e20250594.

OBJECTIVE: To analyze the association between the risk of developmental delay in children and mothers’ perceptions of urban infrastructure. METHOD: A cross-sectional study was conducted in Salvador, Bahia, with mothers and children under 6 years of age registered at health units. Child development was assessed using the Survey of Well-being of Young Children, validated for the Brazilian population, and mothers’ perceptions of urban infrastructure were assessed using the Child-Friendly Neighborhood for Early Childhood scale (green/open, playful, safe, accessible, and inclusive). Descriptive statistical analyses and logistic regression models were used. All ethical aspects were respected. RESULTS: A total of 503 mother-child dyads participated, and the risk of developmental delay was 11%. Regarding urban infrastructure, 41% of mothers considered their neighborhood green/open, 45% playful, 37% safe, 93% accessible, and 29% inclusive. Only mothers’ perception that the neighborhood was safe was associated with a lower likelihood of risk of developmental delay in children (OR = 0.33; 95%CI: 0.15-0.71; p < 0.001). CONCLUSION: Maternal perception of neighborhood safety was associated with a lower likelihood of risk of developmental delay in children.

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10. Pargny V, Perrrin de Brichambaut F, Deyre M, Zeggay Y, Petat H. Developmental regression as the presenting feature of late-diagnosed vertically acquired HIV infection in a child: 18-month follow-up. BMJ Case Rep. 2026; 19(8).

We report a boy in mid-childhood with previously undiagnosed vertically acquired HIV who presented with progressive developmental regression, language impairment, gait disturbance and pyramidal signs. Investigations showed profound immunosuppression, high plasma and cerebrospinal fluid HIV RNA levels, diffuse white matter abnormalities and marked cerebral atrophy, supporting a diagnosis of HIV-associated encephalopathy. Combination antiretroviral therapy was initiated promptly, together with intensive multidisciplinary rehabilitation. During 18 months of follow-up, plasma HIV RNA became undetectable, immune function recovered and neurological, cognitive, language and functional outcomes improved. This case documents an uncommon paediatric neurodevelopmental manifestation of HIV and highlights the importance of considering HIV in children with unexplained developmental regression, as well as the contribution of sustained rehabilitation to recovery alongside virological control.

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11. Raniolo LN, Braden RO, von Hehn J, Christodoulou J, Lieberman DN, Amor DJ, Vogel AP. Speech, language, social communication, and communication assessments in Rett syndrome: A systematic review. Dev Med Child Neurol. 2026.

AIM: To provide a systematic overview of speech, language, and social abilities of people with Rett syndrome (RTT), and identify the most frequently used communication assessments in the literature. METHOD: A systematic search of PubMed, CINAHL, ScienceDirect, ERIC, and speechBITE databases was conducted using terms synonymous with RTT, speech, language, social, and clinical assessment. Two independent reviewers screened abstracts; one reviewer conducted full-text screening, communication-related data extraction, and quality appraisal, with verification by a senior author of a subset of full-text articles. RESULTS: A total of 3091 papers were identified after removal of duplicates, of which 59 met inclusion criteria. Severe communication impairment emerged as a core feature of RTT, across classic and atypical variants, to differing degrees. Expressive language and speech production were most severely affected. Atypicality in all communication domains was reported both pre- and post-regression. Genetic (e.g. MECP2 variant) and developmental (e.g. age) factors modulated ability; poorer outcomes often linked to early truncations and large deletions. Most assessments relied on caregiver report. INTERPRETATION: Speech-language difficulties are ubiquitous in RTT, ranging from mild to profound. Objective assessment is limited by severe motor-speech impairment and a reliance on caregiver report; flexible and/or more granular tools are necessary. The use of both objective (e.g. acoustic analysis) and subjective (e.g. caregiver recall) measures is warranted for characterizing speech-language ability.

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12. Stephenson KG, Youngstrom EA, Butter EM. Brief Report: Is IQ Measured Equally in ASD, ADHD, Language Disorders, and the General Population?. J Autism Dev Disord. 2026.

PURPOSE: Autism spectrum disorder (ASD) is a heterogeneous condition that has led some to question whether IQ scores can be meaningfully compared across neurodivergent and neurotypical populations. The purpose of this study was to evaluate the measurement invariance of the Stanford-Binet Intelligence Scales, Fifth Edition (SB-5), among 3,050 clinically referred youth ages 2-16 with a diagnosis of ASD (n = 1,329; 43.6%), ADHD (n = 942; 30.9%), or a language-related disorder (n = 779; 25.5%), as well as the general population standardization sample within the same age range. METHODS: The clinical sample consisted of retrospective chart review data from a large pediatric hospital in the Midwestern United States. We used multigroup confirmatory factor analysis to test measurement invariance. RESULTS: The three clinical groups demonstrated full strong (scalar) invariance. The combined clinical sample also demonstrated full strong (scalar) invariance relative to the standardization sample. CONCLUSION: These findings indicate that the SB-5 measures IQ in a consistent manner across both general and clinical populations, including the three most common neurodevelopmental disorders, supporting the meaningful comparison of scores across these groups.

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13. Watson AJ, Taylor KM, Tootill D, Bell V. Improving outcomes for people with co-occurring autism and psychosis: from diagnostic overshadowing to system-wide clinical capability. Br J Psychiatry. 2026: 1-3.

Individuals with co-occurring autism and psychosis are poorly supported by current psychiatric systems yet commonly present to both autism and psychosis services. Diagnostic overshadowing, fragmented pathways and unadapted interventions drive poorer outcomes. Psychosis services must embed neurodevelopmentally informed assessment, formulation, staff training and routine treatment adaptations to deliver equitable, effective care for this underserved population.

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14. Wei L, Chen W, Lin Y, Li C, Ran G, Liu L, Li Z, Song A, Lan L, Huang X, Chen G, Zeng X, Wang L. Joint effects of multi-metal exposure on Autism Spectrum Disorder: Associations, related genes, and biological pathways. Ecotoxicol Environ Saf. 2026; 323: 120625.

Autism Spectrum Disorder (ASD) is a common, multifactorial neurodevelopmental disorder with complex etiology. Aberrant metal exposure has been linked to ASD pathogenesis, but the independent and joint effects of multi-metal exposure remain unclear. This study investigated the associations between metal exposure and ASD in a case-control study involving 214 children aged 3-8 years, with 112 ASD cases and 102 controls. Plasma concentrations of 15 metals were measured using Inductively Coupled Plasma Mass Spectrometry (ICP-MS). Logistic regression and restricted cubic spline models (RCS) were used to assess the associations between metals and ASD. The results indicated that higher plasma concentrations of lead (Pb) were independently associated with ASD, whereas selenium (Se) showed an inverse association. These findings were further supported by sensitivity analyses using Firth logistic regression and bootstrap resampling. Bayesian kernel machine regression (BKMR) and quantile g-computation (Qgcomp) models revealed that the joint effect of Pb and nickel (Ni) on ASD was attenuated when Se was included in the analysis. In addition, analysis of public data identified nine candidate genes potentially related to both metal exposure and ASD. RT-qPCR analysis of local samples confirmed the differential expression of the candidate genes, which were functionally linked to neurodevelopment-related pathways, including thyroid hormone signaling, mTOR/AMPK signaling, and synaptic plasticity. Overall, this study suggests that specific plasma metal profiles may be associated with ASD and highlights the potential relevance of considering multi-metal exposure patterns. Further longitudinal studies and experimental investigations are required to determine the temporal relationship and potential biological mechanisms linking metal exposure to ASD. LAY SUMMARY: Autism Spectrum Disorder is thought to involve both genetic and environmental factors. In this case-control study, we measured multiple metals in children’s plasma and found that children with ASD had different metal profiles compared with controls, particularly for lead, nickel, and selenium. When metals were considered together, selenium appeared to influence the observed associations involving lead and nickel. We also identified several genes that may be related to both metal exposure and neurodevelopmental processes. These findings suggest that metal exposure patterns may be relevant to ASD, but larger longitudinal and mechanistic studies are needed to clarify these relationships.

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15. Zhao Y, Li N, Han Y, Li N, Liu Q, Fu W, Luo G, Chen Y, Wang N, Zhou Y, Qian X. [Clinical and genetic analysis of a child with MRXS34 syndrome due to variant of NONO gene]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2026; 43(8): 592-7.

OBJECTIVE: To explore the clinical features and genetic etiology of a child with Basel-Vanagaite-Smirin-Yosef syndrome (BVSYS). METHODS: A child diagnosed with BVSYS at Foshan Nanhai District Maternal and Child Health Care Hospital in January 2021 was selected as the study subject. Clinical data of the child were collected. Peripheral blood samples were collected from the child and his parents. Following extraction of genomic DNA, whole genome sequencing (WGS) was carried out, and candidate variants were validated by Sanger sequencing. Pathogenicity of the candidate variants was evaluated based on guidelines from the American College of Medical Genetics and Genomics (ACMG). This study was approved by the Ethics Committee of the hospital (Ethics No.: 2025-01). RESULTS: The proband, a 4-year-and-5-month-old boy, presented with global developmental delay with intellectual disability, characteristic facial features, speech impairment, abnormal muscle tone, epilepsy, congenital heart disease, abnormal brain MRI findings, and microcephaly. WGS revealed that he has harbored compound heterozygous variants of the MED25 gene: (NM_030973.3) c.180+5G>C (maternal) and (NM_030973.3) c.394C>G (p.Arg132Gly) (paternal). Transcriptome sequencing confirmed that the c.180+5G>C variant may cause aberrant splicing with retention of intron 2. Based on the ACMG guidelines, this variant met the criteria PS3+PM2_Supporting+PP3 and was classified as likely pathogenic. The c.394C>G (p.Arg132Gly) variant resulted in an amino acid substitution and was predicted to be deleterious by in silico analysis. Based on the ACMG criteria (PM2_Supporting+PMS+PP3), it was classified as a variant of uncertain significance. A literature review showed that, among 23 BVSYS patients reported between 2015 and 2025, the most common clinical manifestations were developmental delay/intellectual disability and characteristic facial features (100%), followed by speech impairment (78.3%), abnormal muscle tone (60.8%), ocular abnormalities (60.8%), epilepsy (47.8%), and cardiac anomalies (47.8%). CONCLUSION: The c.180+5G>C and c.394C>G compound heterozygous variants of the MED25 gene probably underlay the pathogenesis of BVSYS in this child.

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