Pubmed (TSA) du 12/05/26
1. Ariyasu D, Kosaki R, Cho H, Nakashima M, Tsuchihashi T, Kosaki K, Yamazawa K. Phenotypic and Genetic Insights Into CNOT3-Related Intellectual Developmental Disorder of Speech Delay, Autism, and Dysmorphic Faces (IDDSADF) From the First Two Japanese Cases. Am J Med Genet A;2026 (May 12)
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Faces (IDDSADF) is a rare neurodevelopmental disorder caused by heterozygous variants in CNOT3. Although several cohorts have been documented worldwide, no Japanese patients have been reported to date. Here, we present the first two Japanese cases of IDDSADF, an 8-year-old girl and a 19-year-old boy, both presenting with developmental delay, characteristic facial features, and short stature. Both individuals exhibited a thin, tented upper lip, a morphology that has been rarely reported in other cohorts and may represent an ethnicity-associated trait. Growth impairment was observed either from early childhood or emerging after puberty and may represent an underrecognized aspect of the phenotype. Trio-exome sequencing identified pathogenic CNOT3 variants in both patients, including a recurrent frameshift (c.732dup, p.Ser245fs) and a novel splice-site substitution (c.837+1G>A). Our findings expand the phenotypic and mutational spectrum of IDDSADF, highlighting the importance of longitudinal auxological assessment and recognition of potential ethnicity-associated facial traits in its clinical diagnosis and management.
Lien vers le texte intégral (Open Access ou abonnement)
2. Balikci S. Quality of Autism Information Generated by Artificial Intelligence Tools: Implications for Paediatric Care. J Paediatr Child Health;2026 (May 12)
AIM: Families increasingly turn to artificial intelligence (AI) tools for information about autism spectrum disorder (ASD), often during early childhood when concerns about development, diagnosis and intervention first emerge. From a paediatric perspective, these tools increasingly function as informal sources of health information alongside primary care and developmental services. This study aimed to evaluate the quality of autism-related information generated by widely used AI platforms. METHODS: Using a descriptive research design, responses generated by six freely accessible AI platforms (ChatGPT, Gemini, Microsoft Copilot, Perplexity, Brave and Grok) were examined. Each platform was asked 15 autism questions with well-established scientific answers. Responses were evaluated across five dimensions relevant to paediatric health communication: accuracy, readability, language framing, actionability and reference quality. RESULTS: Substantial variability was observed across AI platforms. Several tools produced generally accurate explanations of ASD; however, readability levels consistently exceeded recommended guidelines for paediatric health materials (i.e., the 6th-8th grade reading level). Most responses relied primarily on medicalized language rather than neurodiversity-affirming framing. Actionable guidance was limited, with only a minority of responses offering concrete next steps for families navigating early paediatric decision-making. Reference practices varied widely, with some platforms providing numerous credible sources and others offering few or none. CONCLUSIONS: Although AI tools can support parental understanding of ASD, differences in clarity, tone, usability and transparency may shape families’ expectations prior to or during paediatric consultations. These findings highlight the need for thoughtful use of AI-generated autism information and suggest that families may benefit from guidance from paediatric professionals when interpreting AI-based responses.
Lien vers le texte intégral (Open Access ou abonnement)
3. Byrd E, Mulhall P, Shields N, Gray K, Hilgenkamp T, Kahonde C, Ng K, Ptomey L, Purcell R, Sit C, Smith A, Van Damme T, Taggart L. Implementation of physical activity interventions for children and young people with intellectual and developmental disabilities: an international modified Delphi study. BMJ Paediatr Open;2026 (May 12);10(1)
OBJECTIVES: This study aimed to establish consensus on items to be included in professional guidelines supporting clinical practitioners and community organisations to effectively implement physical activity (PA) interventions for children and young people with intellectual and developmental disabilities. METHODS: A modified Delphi study was conducted in two stages. First, a roundtable discussion was held with a steering panel of 12 experts in the field to inform initial items for consideration within the Delphi survey. This was followed by a two-round survey of a wider panel of international experts to establish consensus of agreement on the items that should be included in implementation guidelines for PA interventions for this population ensuring relevance across geographical and cultural contexts. RESULTS: 46 experts from eight countries, academics and practitioners in the field of PA took part. Consensus was reached on 73 items for inclusion in implementation guidelines. These included items related to context for the PA (eg, familiar spaces, community needs assessments and marginalised communities), activities to support implementation (PA prioritisation and facilitator training) and key outcomes to measure from individual (eg, participation in and enjoyment of PA) to systems level (eg, drop-out, reach and number of PA opportunities). CONCLUSION: The items identified through this study will be incorporated into professional guidelines supporting effective and sustainable implementation of PA interventions for children with intellectual and developmental disabilities. This will include using cross-sector collaboration between health, education and community services; workforce training and support; accessible infrastructure and resources; family engagement; and system-level monitoring and evaluation.
Lien vers le texte intégral (Open Access ou abonnement)
4. C PJ, Das A, Sreelatha Biju A, Abhi N, Tijo S. Technology-enabled sexual health promotion for individuals with intellectual and developmental disabilities: protocol for a scoping review. BMJ Open;2026 (May 12);16(5):e118656.
INTRODUCTION: Technology-enabled approaches are increasingly used to support health education, yet the extent and characteristics of digital interventions addressing sexual health promotion for individuals with intellectual and developmental disabilities (IDD) remain unclear. Individuals with IDD often experience limited access to developmentally appropriate sexuality education, highlighting the need to understand how technology is being used to support learning, safety and autonomy. This scoping review aims to map peer-reviewed evidence on technology-enabled sexual health promotion for individuals with IDD, including intervention characteristics, target populations, sexual health content and reported outcomes. METHODS AND ANALYSIS: This protocol follows the Population-Concept-Context framework and is developed in accordance with Preferred Reporting Items for Systematic Review and Meta-Analysis Protocols (PRISMA-P) guidance; the scoping review will be reported using Preferred Reporting Items for Systematic Reviews and Meta-Analyses Extension for Scoping Reviews (PRISMA-ScR). Electronic database searches will be conducted in PubMed, Scopus, Web of Science and Embase for studies published in English between 2010 and 2025. The preliminary search strings were developed in consultation with a health sciences librarian and will be refined iteratively, if required, during the review process. Eligible studies will include peer-reviewed empirical research examining technology-enabled sexual health promotion for individuals with IDD. Two reviewers will independently conduct screening and data charting using Rayyan, with disagreements resolved through discussion and adjudication by a third reviewer. Data will be synthesised through descriptive mapping and thematic organisation. Given anticipated heterogeneity in technologies, settings and outcome measures, findings will be synthesised narratively rather than pooled quantitatively. Expert consultation will support interpretation without influencing study selection decisions. ETHICS AND DISSEMINATION: Ethical approval is not required as the review uses published literature only. Findings will be disseminated through peer-reviewed publications and academic conferences to inform clinicians, educators, researchers and policymakers working in disability and sexual health. TRIAL REGISTRATION NUMBER: Open Science Framework, DOI: 10.17605/OSF.IO/X7HQW.
Lien vers le texte intégral (Open Access ou abonnement)
5. Capelli E, Cassa MI, Riboldi EM, Beretta C, Siri E, Cantiani C, Molteni M, Riva V. Developmental changes in audio-visual speech integration during the first year of life in infants at elevated and typical likelihood of autism. PLoS One;2026;21(5):e0347046.
Infants’ ability to integrate auditory and visual information, i.e., audiovisual integration (AVI), emerges during the first year and is crucial for effective communication and early development. However, there is limited longitudinal research on how AVI develops across the first year of life, particularly in infants at elevated likelihood of autism (EL). This study aimed to investigate the developmental trajectories of AVI in response to congruent and incongruent speech stimuli in EL and typical likelihood (TL) infants at 6, 9, and 12 months. Using eye-tracking techniques and the McGurk effect paradigm, we explored infants’ preferential looking behavior towards facial features (eyes vs. mouth) and their response to audiovisual congruence. EL infants were then evaluated at 24 months to explore the associations between AVI and later autism-related traits. Across likelihood groups, infants showed a robust developmental shift from greater attention to the eyes at 6 months toward increased attention to the mouth at 9 and 12 months, consistent with expected developmental changes in audiovisual speech processing. Infants also displayed higher mouth preference in the non-fusible mismatch condition at 6 months, suggesting early sensitivity to audiovisual incongruence. Interestingly, EL infants showed a delayed developmental shift toward mouth-looking across the first year of life. Exploratory outcome analyses revealed that infants showing clinical signs of autism at 24 months displayed a flatter developmental trajectory in eyes-to-mouth preference. The present study emphasizes the importance of examining sensory processing trajectories in EL infants, as delayed shifts in attention to the mouth could signal subtle developmental differences that may have long-term implications for subsequent communication skills.
Lien vers le texte intégral (Open Access ou abonnement)
6. Chahmi-Tahiri C, Pecci-Lloret MP, García-Ríos P, Pérez-Guzmán N. Caries Prevalence in Patients With Autism Spectrum Disorder: A Review of the Literature. Spec Care Dentist;2026 (May-Jun);46(3):e70182.
AIM: The aim of this review is to present a qualitative synthesis of various studies concerning the presence of caries in people with ASD. METHODS AND RESULTS: A review of scientific articles was carried out by consulting the databases of Medline, Scopus, Web of Science and the Cochrane and SciELO libraries on December 1 and updated on January 15, 2024. Of the 21 comparative studies, only 12 reported prevalence figures for both ASD and non-ASD groups. Among them, seven studies found higher caries prevalence in individuals with ASD, while five reported higher prevalence in non-ASD populations, demonstrating inconsistency across the evidence. In the ASD-only studies, caries prevalence ranged widely, with several reporting values above 70%. Differences related to dentition were observed, with primary teeth generally showing higher caries prevalence than permanent teeth. Limited studies examined gender differences, but small variations were noted. CONCLUSIONS: The evidence regarding dental caries prevalence in individuals with ASD is highly heterogeneous. Some studies suggest higher prevalence in autistic populations, while others report higher rates in non-ASD groups. Variations in dentition type, demographic characteristics, and methodological differences may contribute to these discrepancies. Further studies using uniform diagnostic criteria and robust designs are needed to clarify the relationship between ASD and caries prevalence.
Lien vers le texte intégral (Open Access ou abonnement)
7. Dickerson AS, Liu Y, Ladd-Acosta C, Wang J, Schendel D, Weisskopf MG, Fallin MD, Hansen J. Associations between maternal occupational history and autism spectrum disorder diagnosis in offspring in Denmark. Occup Environ Med;2026 (May 12)
OBJECTIVES: We investigated associations between maternal occupations and a diagnosis of autism spectrum disorder (ASD) in offspring. METHODS: We obtained data for 1702 ASD cases born between 1973 and 2012 from the Danish National Patient Registry and matched each case to up to 100 population based controls based on sex and birth year (n=110 234). Mothers’ employment histories were obtained from the Danish Pension Fund Registry. Conditional logistic regression models were used to test associations between occupations held ever, 1 year before conception, during pregnancy and during infancy, adjusting for the mother’s age and history of neuropsychiatric disorders, parity and residential location. RESULTS: There were increased odds of having a child with ASD for mothers who were employed before conception up to infancy in ground transportation (adjusted OR (aOR) 1.24, 95% CI 1.08 to 1.42; q=0.036), public administration (aOR 1.20, 95% CI 1.07 to 1.35; q=0.018) and military/defence occupations (aOR 1.59, 95% CI 1.39 to 1.82; q<0.001). Associations for judicial occupations and military/defence service were also apparent 1 year before conception and during pregnancy. We observed sex differences, with significant associations in male children for employment in ground transportation and defence occupations. CONCLUSIONS: Associations between certain maternal employment categories with high toxicant or psychosocial stress exposure suggest future studies should focus on examining specific toxicant exposures common in those occupations and neurodevelopment in offspring. This is of particular concern for associations seen for occupations held several years before conception.
Lien vers le texte intégral (Open Access ou abonnement)
8. Feng J, Lee J, Song W, Chu SY, Chai SC, Zhang D, Liu WY, Wan Yunus F, Lin LY. Verbal and Behavioral Communication Strategies in Chinese Parent-Child Interactions: Distinctions Between Autism Spectrum Disorder and Typical Development. Int J Lang Commun Disord;2026 (May-Jun);61(3):e70257.
PURPOSE: This study examined the characteristics and differences in the verbal and behavioral strategies employed by Chinese-speaking parents of children with Autism Spectrum Disorders (ASDs) and parents of typically developing (TD) children. METHODS: Ten-minute video recordings of parent-child interactions were analyzed, involving 34 children with ASD (Mage = 4.77 years, SD = 1.46; 29 boys) and 31 TD children (Mage = 4.84 years, SD = 1.43; 15 boys) alongside their parents. Verbal and behavioral samples were transcribed, coded, and analyzed using EUDICO Linguistic Annotator (ELAN) and Computerized Language Analysis (CLAN) software to evaluate grammatical, syntactic, pragmatic, semantic, and non-verbal functions. The Mann-Whitney U test was utilized to compare the interactive strategies between the two parental groups. RESULTS: Parents in the ASD group demonstrated a significantly shorter mean length of utterance (MLU), greater reliance on gestures and labeling, and a higher frequency of behavioral directives compared to parents in the TD group (all ps < 0.01). In contrast, parents of TD children exhibited a significantly higher frequency of expansions, general responses, and questions, facilitating richer language input and reciprocal conversational engagement. CONCLUSION: These findings suggest that parent-mediated interventions for Chinese-speaking children with ASD should prioritize balancing developmentally appropriate simplified input with responsive interaction strategies rather than merely increasing linguistic complexity to better support child-initiated communication and joint engagement. WHAT THIS PAPER ADDS: What is already known on this subject Previous research has established that parent-child interaction plays a central role in early language intervention for children with Autism Spectrum Disorder (ASD). Parents tend to adapt their communication to children's reduced responsiveness by using shorter utterances and more directive strategies. Responsive parental behaviors, such as expansions and contingent responses, are consistently associated with better language outcomes. However, most evidence comes from Western language contexts, and parental communication strategies in Chinese-speaking families remain under explored. What this study adds to existing knowledge This study extends existing evidence by characterising the structure of parental communication strategies in Chinese-speaking parent-child interactions involving children with ASD. It demonstrates that, despite comparable amounts of overall linguistic input, parents of children with ASD show a systematic imbalance between adaptive scaffolding (shorter utterances, gestures and labeling) and responsive strategies (expansions, questions and imitations). The findings further identify a culturally specific pattern of increased gesture use in Chinese-speaking ASD families, highlighting language- and culture-dependent adaptations not captured in Western-focused research. What are the potential or actual clinical implications of this work? The findings have direct implications for speech and language therapy practice with Chinese-speaking families. Intervention should focus on calibrating parental interaction patterns rather than increasing the quantity of language input. Speech-language therapists should support caregivers in maintaining developmentally appropriate scaffolding, such as simplified utterances, gestures, and labeling, while reducing excessive behavioral directives and strengthening responsive strategies, including expansions, imitations, and child-led questioning. These results inform culturally responsive caregiver coaching and support the integration of parent-mediated approaches into routine clinical service delivery.
Lien vers le texte intégral (Open Access ou abonnement)
9. Fujii A, Hirai M. Autism related traits and anxiety in the general population are linked through intolerance of uncertainty and affect labeling. Sci Rep;2026 (May 12);16(1)
Anxiety is prevalent in autism spectrum disorder and linked to intolerance of uncertainty (IU). As a cognitive strategy, affect labeling (AL) reduces distress by structuring ambiguous sensations. However, autistic individuals frequently exhibit AL deficits, raising a critical dilemma: a strategy alleviating uncertainty-driven anxiety is inherently difficult to access. It is unclear whether IU paradoxically motivates AL use despite these deficits. In this cross-sectional study, 505 adults completed measures of autistic traits, IU, AL, and anxiety. We tested two serial mediation models: the Cognitive-Motivational Model (CMM; IU motivates AL) and Emotion Regulation deficit Model (ERM; AL deficits increase IU). While both fit well, CMM was selected based on theoretical consistency. This was consistent with established risk pathways where autistic traits relate to anxiety via higher IU and lower AL. Crucially, a novel adaptive pathway emerged: higher autistic traits were associated with higher IU, which were linked to higher AL and lower anxiety. While these pathways represent theoretical assumptions rather than proven causality, the findings suggest a dual role of IU as risk factor and motivational driver. This may point to a conflict in individuals with high autistic traits: struggling with AL deficits yet motivated to use AL to cope with uncertainty. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1038/s41598-026-47237-8.
Lien vers le texte intégral (Open Access ou abonnement)
10. Gao L, Zhang A, Liu J, Cui D, Guo X. Sex-specific alterations in the functional hierarchy of the insula in autism spectrum disorder and their associations with molecular profiles. Neuroimage;2026 (May 12);336:121998.
Autism spectrum disorder (ASD) exhibits a pronounced male predominance in prevalence and may involve distinct neural characteristics across sexes. While functional connectivity gradients provide a powerful framework for understanding brain hierarchy, the sex-specific gradient alterations in the insula remain poorly understood in ASD. Resting-state functional magnetic resonance imaging data including 808 individuals were analyzed in this study. We mapped the dominant (G1) and secondary (G2) functional connectivity gradients of the insula and investigated diagnosis-by-sex interactions. These gradient alterations were further assessed for associations with clinical symptoms and spatially decoded against transcriptomic and neurotransmitter profiles. Significant diagnosis-by-sex interactions were identified in both the G1 and G2 of the insula. These gradient alterations were associated with clinical symptom profiles in ASD and showed spatial correlations with patterns of gene expression and neurotransmitter distributions. Our findings reveal a sex-specific neurofunctional profile of the insula in ASD across functional and molecular levels, providing novel insights into the potential neurobiological correlates of its sex-specific heterogeneity.
Lien vers le texte intégral (Open Access ou abonnement)
11. Guillon M, Brin M, Gabet E, Gromaire J, Bernard M, Laurent L, Rabin T, Bianchin L, Veziano M, Kloda J, Bernard A, Asali L, Liu Y, Flamier A. MECP2 mutations rewire human ESC fate and bias cortical lineage commitment. Stem Cell Reports;2026 (May 12);21(5):102895.
Rett syndrome arises from loss-of-function mutations in the X-linked chromatin regulator MECP2, yet the earliest molecular derailments in development are poorly defined. Using isogenic human embryonic stem cell (hESC) models carrying three patient-derived MECP2 mutations, we followed the transcriptome from pluripotency through neuroectoderm, neural stem/progenitor stages. Developmental stage dominated transcriptional variance, but mutants shared a secondary program enriched for synaptic-membrane and extracellular matrix genes. Single-cell/bulk profiling at the embryonic stem cell (ESC) stage revealed partial naïve-like drift, marked by the up-regulation of the naïve-enriched factor ZFP42/REX1 and related markers in MECP2-mutant lines. Among convergently dysregulated genes, the cortical determinant EMX1 showed an abnormal developmental trajectory, early repression followed by overshoot, and was consistently altered across independent Rett PSC models. Single-nucleus RNA-seq of cerebral organoids uncovered allele-specific yet convergent disturbances in cortical lineage allocation. These data chart a continuous developmental trajectory for MECP2-mutant cells and nominate naïve-like drift and mis-timed EMX1 expression as tractable entry points for dissecting Rett pathogenesis.
Lien vers le texte intégral (Open Access ou abonnement)
12. Jiang M, Li R, Yang X, Ren Z, Yang Z, Azevedo F, Sharma J, Menegas W, Choi S, Yang L, Li M, Su Z, Zhu L, Guo P, He Z, Huang W, Anteraper S, Dai J, Wang L, Yang S, Desimone R, Feng G, Lu Z. Behavioral phenotypes and neuronal biomarkers in F1 mutant macaque model of SHANK3-associated autism spectrum disorders. Neuron;2026 (May 12)
Haploinsufficiency of the SHANK3 gene is the primary cause of Phelan-McDermid syndrome (PMS), a severe neurodevelopmental disorder with intellectual disability and autism spectrum disorder. We previously reported that founder SHANK3 macaques had behaviors reminiscent of some aspects of PMS. However, insights into behavioral, physiological, and cognitive changes were limited due to the small cohort and mosaicism. We therefore generated a larger, F1 generation of heterozygous SHANK3(+/-) macaques to conduct more thorough studies. We found sleep disturbances, diminished exploration, atypical social interactions, stereotypical behaviors, and altered brain functional connectivity in SHANK3(+/-) macaques. Electroencephalogram recordings revealed a markedly diminished response to auditory stimulation. Cognitively, SHANK3(+/-) monkeys did not show major deficits in working memory tests but exhibited an impaired ability to learn and execute a paired-association memory task. We further developed a multi-task array to systemically evaluate autism-related phenotypes, which revealed the heterogeneity of phenotypes and established potential biomarkers for testing therapeutics.
Lien vers le texte intégral (Open Access ou abonnement)
13. Jouma AB. Giant chronic subgaleal hematoma secondary to repetitive self-injurious head-banging in severe autism: A case report. Surg Neurol Int;2026;17:212.
BACKGROUND: Subgaleal hematoma (SGH) is defined as hemorrhage within the potential space between the galea aponeurotica and the periosteum. While SGH is well recognized in the neonatal period, its occurrence beyond infancy is rare, and chronic or progressively enlarging SGH in adolescents is exceedingly uncommon. CASE DESCRIPTION: We report a 16-year-old male with severe autism spectrum disorder (ASD) and longstanding repetitive self-injurious head-banging behavior who presented with a massive, progressively enlarging scalp swelling. Neuroimaging demonstrated a large extracranial collection confined to the subgaleal space, with mixed radiological characteristics consistent with acute, subacute, and chronic hemorrhage, and no associated intracranial pathology. Surgical exploration revealed a giant mixed-stage SGH associated with markedly hypertrophied scalp vessels. Complete evacuation, meticulous hemostasis with selective vessel ligation, dead-space reduction, and subgaleal drainage were performed, resulting in excellent clinical and cosmetic outcomes without recurrence. CONCLUSION: Repetitive self-injurious head trauma represents a rare but important etiology of giant chronic SGH in adolescents with severe ASD. Awareness of this mechanism is essential, as delayed recognition may lead to progressive enlargement and significant deformity. Timely surgical intervention can provide definitive management and durable resolution.
Lien vers le texte intégral (Open Access ou abonnement)
14. Li S, Wang H, Chen G, Cheng X, Wang Y, Hu W, Hamilton A, Schilbach L, Yi L, Alaerts K, Zhang Z, Zuo XN, Wang Y, Zang Y. Social functioning in autism: a systematic review and meta-analysis. Nat Hum Behav;2026 (May 12)
Atypical social functioning is a core feature of autism, yet findings remain fragmented across components and development. We aimed to systematically integrate this literature and characterize the organization, development and moderators of social functioning in autism. We conducted a systematic review and meta-analysis of behavioural studies published between January 1990 and August 2025, identified through PubMed, Web of Science and prior reviews, including studies with clinically diagnosed autistic individuals and neurotypical controls. A qualitative synthesis and two complementary quantitative meta-analyses were performed, with risk of bias evaluated through study-level characteristics. A total of 2,622 studies (94,114 autistic and 172,847 neurotypical individuals across 32 countries) were included, covering 22 social components that clustered into five domains. Overall group differences were substantial (Hedges’ g = -0.744; 95% confidence interval, (-0.797, -0.690)). Differences emerged the earliest in motivation-based processes (around six months), followed by motor, emotion and inference domains, and showed age-related divergence alongside improvement in some skills. Cross-domain analyses revealed stronger interdependencies in autism and an organizational pattern most consistent with serial relationships among domains. These findings should be interpreted in the light of methodological heterogeneity, underpowered samples and uneven cultural representation. Together, the results provide an integrative framework for understanding the organization and development of social functioning in autism, with implications for precision subtyping, developmentally timed interventions and neurodiversity-informed research and policy.
Lien vers le texte intégral (Open Access ou abonnement)
15. Nurmukhanbetova A, Nurbaulina E, Kurmanalina S, Sabyrdilda Z, Iskakova B, Akhtayeva N, Kosherbayeva L, Kozhageldiyeva L. The assessing medical professionals’ knowledge of autism spectrum disorders. J Public Health Res;2026 (Apr);15(2):22799036261450250.
The global prevalence of autism spectrum disorders (ASD) continues to rise, underscoring the importance of assessing physicians’ preparedness to recognize ASD symptoms promptly and provide appropriate care and support to affected children and their families. OBJECTIVE: The aim was to assess the level of knowledge among medical professionals described above and involved in the care of children with ASD. METHODS: A prospective cross-sectional study was conducted using a structured questionnaire in Kazakh and Russian. A total of 638 Almaty medical professionals participated: 312 general practitioners (GP), 194 pediatricians, 88 neurologists, and 44 psychiatrists. Analyses were performed in Stata 15.1, with GP and pediatrician data examined as primary healthcare (PHC) groups, and neurologists and psychiatrists analyzed as specialists from both PHC and inpatient settings. The questionnaire showed good internal consistency (Kuder-Richardson Formula 20: 0.842 for neurologists/psychiatrists; 0.854 for pediatricians/GPs). Tetrachoric correlations were used for factor extraction. Descriptive statistics, Chi-square tests, and principal factor analysis assessed relationships between professional characteristics and ASD knowledge. RESULTS: Psychiatrists demonstrated a greater recognition of certain ASD signs and a stronger need for further education than neurologists, with key areas centered on social, behavioral, and sensory symptoms. Pediatricians with more experience than GPs, demonstrated a higher awareness of ASD symptoms and diagnosis, with social impairment and diagnostic knowledge being the main factors shaping understanding in both groups. CONCLUSION: The low awareness of physicians in providing care to children with ASD revealed the need to develop strategies to improve their knowledge, in particular among GPs.
Lien vers le texte intégral (Open Access ou abonnement)
16. Raji N, Todorova I, Polzer L, Kleber SK, Lemler C, Schnettler L, Kitzerow-Cleven J, Kim Z, Freitag CM, Bast N. Visual Search Performance in Children With ASD: A Combined Case-Control and Longitudinal Study. Autism Res;2026 (May 12):e70274.
Autism Spectrum Disorder (ASD) is associated with altered attentional function. This has been associated with enhanced visual search performance. Addressing a gap in the literature, we investigate the longitudinal development of visual search alongside ASD symptoms. Using eye-tracking, we studied performance in a single-feature visual search task with visual search accuracy and time to target. We investigated preschoolers with ASD (n = 60, age = 47 months) and a cohort of developmental age-matched typically developing (TD) children (n = 50, age = 35 months) at baseline and after approximately 3 years. We further explored associations of visual search performance with parent-reported ASD symptom domains. Both groups showed similar visual search accuracy and time to target at baseline. At the 3-year follow-up, the ASD group showed significantly lower visual search accuracy and shorter time to target than the TD group. Within the ASD cohort, higher accuracy and shorter time to target were associated with higher social communication impairments. The often-reported ASD advantage in visual search may not be as pronounced as assumed to differentiate between ASD and neurotypical development. It may also be dependent on the measure reported. More accurate and faster search may be associated with certain symptom severity profiles of ASD, supporting broad heterogeneity in the autism spectrum. Children with autism spectrum disorder (ASD) have been reported to show better performance in visual search tasks than typically developing (TD) children without ASD. Using eye‐tracking at two time points over 3 years, we found a more complex pattern. While children with ASD and TD children show similar performance at preschool age, children with ASD show lower visual search accuracy but faster time to target after 3 years. Also, our findings support an association of enhanced visual search and ASD symptomatology within neurodiversity. eng
Lien vers le texte intégral (Open Access ou abonnement)
17. Rubenstein Z, Glasby J, Posaner R, Miller R, Glasby AM. A Systematic Review of Outcomes for People With Intellectual Disabilities and/or Autistic People Following Resettlement From Long-Stay Hospitals in the UK. J Appl Res Intellect Disabil;2026 (May);39(3):e70244.
BACKGROUND: Despite attempts to reduce the use of modern secure specialist hospitals (long-stay hospitals) for people with intellectual disabilities and/or autistic people, there remains a limited understanding of what happens after discharge. METHOD: Systematic review of outcomes following resettlement from UK long-stay hospitals. RESULTS: Outcomes generally improve following resettlement, although some soon level off and rarely reach the level of comparable populations. We still know little about service costs or about how many readmissions/reconvictions to expect given the complexity of people’s needs and such rates in other settings. Above all, most studies fail to meaningfully include the voices of people themselves. CONCLUSIONS: Outcomes improve after hospital, but this is not guaranteed and even improved outcomes may still not be good enough. Future research should aim to fill a number of gaps in current knowledge-but in particular must draw much more meaningfully on the lived experience of people and families. People with intellectual disabilities and/or autistic people are sometimes kept in hospital for a long time, often in places known as ‘long‐stay hospitals’. When people leave long‐stay hospitals to live in the community, they usually need support to make sure that they can live an ordinary life. We do not know much about what kind of support helps people to live better lives. We looked at research that has come out since 1994 to find out what is already known about this issue in the UK. We found that people’s lives often improve when they leave long‐stay hospitals, but not always, and they do not improve as much as they could. We do not know much about how much community care costs, or how often people go back to hospital or end up in prison after moving to the community. Most of the studies we read did not include the voices of people themselves. We suggest that further research is needed in order to understand what life looks like for people after they leave long‐stay hospitals, and it should include the voices of people themselves. eng
Lien vers le texte intégral (Open Access ou abonnement)
18. Schweitzer K. Leading Autism Experts, Advocates Form an Independent Committee in Response to Federal Shifts. Jama;2026 (May 12);335(18):1561-1563.
This Medical News article discusses the emergence of a new, research-focused independent autism group in the US following recent changes to the federal Interagency Autism Coordinating Committee. eng
Lien vers le texte intégral (Open Access ou abonnement)
19. Stewart L, McGeown WJ, Delafield-Butt J, Parra MA. Commonalities and Divergences in the Cognitive Profiles of Autism and Dementia: Protocol for a Narrative Literature Review. JMIR Res Protoc;2026 (May 12);15:e82349.
BACKGROUND: Literature has shown an increase in research relating to autism and aging, and more specifically, autism and healthy aging. Within the literature, there is a clear lack of knowledge and understanding of the impacts of dementia and autism as co-occurring experiences. More specifically, there is a lack of clinical knowledge about the ways in which the cognitive profiles of autism and dementia do and do not overlap, and how this overlap might affect dementia assessments for this population. This is likely to result in challenges with diagnosis and may lead to misdiagnosis or a lack of diagnosis for the autistic population. OBJECTIVE: This paper reports on a narrative literature review that addresses the lack of understanding of potential similarities and differences in the cognitive profiles of autistic people and patients with dementia. It aims to identify the cognitive functions that are sensitive only to dementia and are less likely to be sensitive to autism. This will allow for a deeper understanding of how to grant sensitivity and specificity in the assessment of dementia within the autistic population. METHODS: The narrative literature review relies on existing guidelines (eg, PRISMA [Preferred Reporting Items for Systematic Reviews and Meta-Analyses]) to inform a newly developed tool, namely the Quality of Evidence Tool (QoET), used to assess publications identified in relevant databases (eg, PubMed, PsycINFO, and others) that report on cognitive functions in autism. Four main cognitive domains were chosen: memory, executive function, attention, and language, as these are the most commonly impaired in people with dementia due to Alzheimer disease and are known to be affected by autism. The QoET was used to select publications that informed us of cognitive functions that would meet our aim, that is, functions affected by dementia and not by autism. RESULTS: This narrative review will identify cognitive domains and functions affected by dementia, not autism, and the assessment tools that yield these findings. It is expected that the rigorous methodological approach devised will shed light on how existing cognitive assessments should be used to increase the specificity of dementia risk detection among autistic individuals, thereby addressing early concerns raised by individuals or health care practitioners. It is expected that the review will be ready for publication by December 2026. As of April 2026, memory and executive function have been drafted. CONCLUSIONS: This narrative review does not seek to give a definitive answer on the cognitive domain, function, and outcome measures or tests used in dementia detection, which can help detect risk in autistic individuals. Instead, it aims to provide a starting point, to pragmatically and efficiently explore and synthesize the broad evidence base, to inform future work and potentially highlight topics (eg, cognitive functions of interest) on which future systematic reviews could specifically focus.
Lien vers le texte intégral (Open Access ou abonnement)
20. Tadenev ALD, Pratt SL, Lopez G, Mexicotte A, Wray A, Burgess RW. Assessing vision and autism spectrum disorder-relevant social interaction phenotypes in Dscam mice. Behav Brain Res;2026 (May 12);510:116271.
Down syndrome cell adhesion molecule (DSCAM) is an immunoglobulin-superfamily cell-adhesion molecule important for neuronal survival, morphogenesis, synaptic specificity, and particularly retinal organization. Pathogenic variants in Dscam have been linked to developmental disorders including Autism Spectrum Disorder (ASD), Down Syndrome (DS), developmental delays and intellectual disabilities. Here we work to better understand the link between morphology and function in the nervous system by assessing the effects of Dscam mutations on both visual and ASD-relevant social interaction behaviors. While it is known that Dscam deficiency leads to perturbations in retinal organization, the subsequent effect on vision is not well studied. We found that homozygous conditional deletion of Dscam in the retina impacted optokinetic response and visual acuity; however, mice were still capable of image discrimination. In addition, Dscam heterozygous mice were used to test ASD-relevant social interaction and other phenotypes, matching the monoallelic human genetics of DSCAM variants in association studies. The Dscam heterozygous mice performed normally in the open field test, rotarod assay, forced swim test, and both the three chamber and dyadic social interaction assays. Overall, we found that our Dscam deficient mice provide a good model for exploring the relationship between retinal anatomy and visual behavior. However, heterozygous mice did not provide a good behavioral model for ASD. To fully understand the role of Dscam in neurodevelopment, additional functional and physiological studies will be necessary.
Lien vers le texte intégral (Open Access ou abonnement)
21. Zuban Y, Baumeister F, Wolfer P, Durrleman S. The effect of language proficiency on theory of mind: A longitudinal study of bilingual autistic and neurotypical children. Child Dev;2026 (May 12)
The study examines how bilinguals’ languages of higher proficiency (LHP) and lower proficiency (LLP) correlate with daily-life Theory of Mind (ToM) in 137 White, bilingual typically developing (TD; 45% boys) and 107 White, bilingual autistic children (78% boys) aged 6 to 12. A subset of participants (28 TD, 43% boys; 21 autistic children, 76% boys) was reassessed approximately 1 year later. Age positively correlated with ToM in TD and autistic children, although the former outperformed the latter. In autistic children, but not TD peers, LHP and LLP were both positively associated with greater ToM skills. Longitudinal findings 1 year later confirmed this pattern, suggesting that bilingual autistic children continue to capitalize on both languages over time to support ToM development. This study explores how bilingual children use their stronger and weaker languages to understand emotions, desires, and beliefs in themselves and others (Theory of Mind). Overall, 137 White, bilingual typically developing (45% boys) and 107 White, bilingual autistic children (78% boys) aged 6 to 12 were evaluated, and 20% were reevaluated 1 year later. Theory of Mind improved with age for typically developing and autistic children, although the former outperformed the latter. Only in autistic children were stronger and weaker languages linked to better Theory of Mind. At follow-up a year later, the same pattern emerged, suggesting that bilingual autistic children continue to benefit from both languages over time, using them to support social and emotional growth. eng