Pubmed (TSA) du 21/08/26
1. Alatawi HA, Eldiasty JG. Unlocking the epigenetic code: future Frontiers in predictive biomarkers for intellectual disability in fragile X syndrome. Hum Mol Genet. 2026; 35(17).
Fragile X Syndrome (FXS) remains the leading inherited cause of intellectual disability (ID), yet the classic CGG repeat expansion on the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene often fails to provide a precise prognostic map for cognitive outcomes. While the expansion is the primary trigger, the resulting epigenetic landscape, characterized by DNA hypermethylation and chromatin remodelling, is the true driver of gene silencing and phenotypic severity. This review critically evaluates the shift from traditional genetic screening to advanced epigenetic profiling as a robust framework for predicting ID in FXS. We synthesize emerging evidence on how quantitative epigenetic signatures can bridge the gap between genotype and the heterogeneous cognitive phenotypes observed in clinical practice. We explore the architecture of FMR1 silencing, emphasizing the role of mosaicism and epigenetic heterogeneity in shaping neurodevelopmental trajectories. A significant focus is placed on cutting-edge technologies, including single-cell epigenomics and CRISPR/dCas9-mediated epigenetic editing, which are transforming our ability to quantify ‘epigenetic load.’ Furthermore, we discuss the integration of machine learning algorithms to analyze multi-omics data, offering a pathway toward personalized prognostic scoring. We also address the clinical transition of peripheral biomarkers (e.g. blood-based methylation assays) as surrogates for central nervous system pathology. The future of FXS management lies in ‘precision prognosis.’ By decoding the epigenetic markers that precede and accompany cognitive decline, clinicians can move toward earlier diagnosis and targeted interventions. This review outlines a strategic roadmap for standardizing epigenetic assays, highlighting their potential to revolutionize the predictive landscape of neurodevelopmental disorders.
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2. AlZain MA, Rokaya M, Hemdan DI, Gad I, Almaliki M, Atlam E. Improving Autism Diagnosis Across Ages Using Eye-Tracking and Temporal Transformer Models. Sensors (Basel). 2026; 26(16).
Variation in gaze behavior due to age is currently a considerable challenge in building reliable eye-tracking systems for Autism Spectrum Disorder (ASD) diagnosis. However, existing strategies often focus on static gaze representation or dataset-based information, which can lead to limited generalization of findings depending on developmental groups and heterogeneous recording conditions. In this paper, we present a temporal transformer-based system for ASD classification using eye-tracking sequences. This allows you to model gaze behavior as a structured temporal process in the context of contextual attention, as well as employing entropy-based modeling for various distributions of variability over time and temporal consistency constraints to capture sequential gaze dynamics related to ASD behavioral patterns. The framework was evaluated using public eye-tracking corpus containing temporally ordered gaze recordings from ASD and TD participants across age groups. Five sequential experiments on baseline classification, class-balancing analysis, cross-age evaluation, ablation analysis, and cross-dataset transfer learning were performed to conduct experiment-based evaluations. Model performed 0.91 in in-domain Area Under the Receiver Operating Characteristic Curve (AUC) and 0.81 in F1-score on the primary eye-tracking dataset. In the cross-dataset assessment stage, the framework presented a relatively stable performance, with an AUC of 0.85 and an average F1-score of 0.74, irrespective of differences in participant distributions and recording conditions. Ablation analysis also revealed that entropy regularization and temporal consistency mechanisms played a significant role in model stability and classification performance. The ablation analysis provides additional insight into the contribution of the proposed framework components beyond the overall classification performance. Removing the entropy-based regularization reduced the model’s ability to represent variability in gaze allocation, whereas removing the temporal-consistency regularization resulted in less stable sequence representations during learning. These observations indicate that the proposed components complement the transformer-based sequence encoder by improving representation stability and preserving diagnostically relevant temporal information. Rather than acting as independent classifiers, the regularization mechanisms serve as supporting constraints that enhance the quality and robustness of the learned temporal representations. The results indicate that temporally structured gaze modeling is more robust, interpretable, and general in comparison to static gaze representations. In summary, the presented framework can represent a scalable and developmentally appropriate approach to gaze-based ASD classification and support the implementation of trusted neurodevelopmental screening systems.
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3. Basan S, Arjyal A, Bhandary S. Quality of life, stress and its coping strategies among the parents of children with autism spectrum disorder in Kathmandu Valley: A mixed method study. PLOS Glob Public Health. 2026; 6(8): e0006997.
This study examines the quality of life, stress, and coping strategies of parents raising children with autism spectrum disorder in Kathmandu Valley. These parents face unique challenges, including caregiving demands, societal stigma, and limited support resources. Limited research exists on the psychosocial impacts these parents experience in Nepal, making this study crucial for understanding their struggles. This cross-sectional mixed-method study was conducted in autism care centers across Kathmandu Valley. Quantitative data from 140 parents was collected using validated scales (Autism Parenting Stress Index, Brief-COPE, Multidimensional Scale of Perceived Social Support, and Family Quality of Life Scale), analyzed with STATA/EZR, while qualitative data from semi-structured interviews was thematically analyzed using R package for Qualitative Data Analysis. Purposive sampling ensured diverse experiences, and the tools were pretested for reliability and validity. Parents’ greatest stressors were concerns about their child’s future independence (76.43%), acceptance (72.14%), communication (66.43%), and social development (51.44%). They primarily relied on active coping and planning, with family providing more consistent support than friends. Unemployed parents had a lower family quality of life than homemakers (p = 0.003). Greater use of emotion-focused (p = 0.017) and problem-focused coping (p < 0.001) was associated with lower family quality of life. Parents mostly faced stress over their child's future and communication. They commonly used coping strategies like acceptance, emotional support, and religion, though some resorted to negative methods like self-blame, substance use and hitting the child. Challenges like societal stigma, limited support, financial strain, and disrupted family relationships were common. Parental support networks and perceived support significantly influenced family quality of life. This study highlights that these parents face various psychosocial burdens and struggles that affect their quality of life and they need interventions to reduce stigma, improve family well-being to ultimately improve their ability to care for their children.
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4. Benatov J. Interpersonal Psychotherapy for Autistic Individuals: A Case Report. Am J Psychother. 2026: appipsychotherapy20260014.
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5. Craft S, Graham A, Haridhas A, Shenkar R, Schindler E, Carroll B, Grant L. Telehealth approaches to catatonia in autism spectrum disorder and intellectual disability: A case series. J Intellect Disabil. 2026: 17446295261479783.
Catatonia requires in-person evaluation, but expansion of telehealth raises questions about virtual diagnosis and treatment. This case series examines outcomes of catatonia care delivered through telepsychiatry for patients with Intellectual Disability and other Neurodevelopmental Disorders. A retrospective chart review was conducted of patients seen through Ohio’s Telepsychiatry Project (2009-present). Inclusion required diagnosis and treatment of catatonia via telehealth. Data collected included demographics, comorbidities, medications, and outcomes. Fourteen patients met inclusion criteria (ages 14-69; 87% male). All had Intellectual Disability; 60% also had autism spectrum disorder. Lorazepam was the primary treatment, titrated virtually, with clinical improvement in 71.4% of cases. Benefits included reduced aggression, self-injury, and regression, though a minority experienced worsening psychosis. Findings suggest telepsychiatry may be a feasible approach for diagnosis and management of catatonia in individuals with neurodevelopmental disorders. Structured assessment and ongoing monitoring remain essential. Future studies can address treatment response and outcomes of catatonia using telepsychiatry.
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6. Eltalkhawy M, Barakat AK, Abdelaal OA, Alherz NT, Almasalma RK, Elshahhat MH, Daif M, Mahdi Isa SA, Wafa MA. Autism Spectrum Disorder (ASD) Through the Lens of Hidden Markov Models (HMMs) Applied to Resting-State fMRI (rs-fMRI): A Systematic Review and Meta-analysis. J Autism Dev Disord. 2026.
PURPOSE: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by atypical interactions between brain networks. These interactions and the resulting dynamic shifts are effectively captured by Hidden Markov Models (HMMs) in comparison to static functional connectivity (FC)-based approaches. This review aims to meta-analyze the application of HMM to resting-state fMRI (rs-fMRI) in individuals with ASD. METHODS: A systematic search of PubMed, Scopus, and Web of Science was conducted in May 2025. Screening followed PRISMA 2020 guidelines, with independent review and consensus resolution. Eligible studies were peer-reviewed, English-language publications that have applied HMMs to rs-fMRI in ASD, with either classification performance or state-metric outcomes reported. RESULTS: Seven studies met eligibility criteria. HMM-derived metrics demonstrated diagnostic utility, with a pooled log odds ratio (log OR) of 2.86 (95% CI: 1.74-3.98; z = 5.01, p < 0.001; I² = 92%) and a pooled AUC of 0.85 (95% CI: 0.72-0.98; I² = 96.9%). Substantial heterogeneity exists across both accuracy outcomes. Relative to typically developing controls, individuals with ASD showed markedly reduced mean lifetime (MLT) in default mode network (DMN)-associated states (pooled Hedges' g = -4.19; 95% CI: -5.52 to -2.85; I² = 98%) and prolonged MLT in sensory/attention hyperactivation states (g = 3.80; 95% CI: 3.43-4.16; I² = 65%), the latter rated as high certainty evidence. Fractional occupancy (FO) in DMN states was also substantially reduced (g = -6.22; 95% CI: -9.87 to -2.58; I² = 99.6%), though this outcome was rated low certainty. Narrative synthesis across consistently identified reduced FO and MLT in DMN-hypersynchrony states alongside increased occupancy in sensory-motor and attention states, replicated across two studies despite variation in atlas choice, number of HMM states, and participant samples. HMM-derived metrics were significantly negatively correlated with ADOS scores (pooled r = -0.20; 95% CI: -0.27 to -0.13; I² = 0%; p < 0.001), rated as high certainty evidence. Transition probability analyses, reported narratively due to incompatible state taxonomies, indicated reduced transitions from sensory-related to DMN-related states and increased self-transitions in sensory-motor states in ASD. Overall risk of bias was low to moderate, with incomplete confounder adjustment being the most common limitation. CONCLUSIONS: ASD involves rigid, imbalanced temporal dynamics, with reduced engagement of integrative networks and dominance of sensory states. Leveraging its high diagnostic accuracy, HMMs capture these alterations and hold promise for mechanistic insight and personalized diagnostics, though heterogeneity remains a challenge. REVIEW REGISTRATION: PROSPERO CRD420251057196.
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7. Estupiñán-Pérez VH, Jiménez-Urrego Á M, Botero Carvajal A. Clinical and environmental risk factors for childhood developmental disabilities: A narrative review (1990-2025). World J Clin Pediatr. 2026; 15(3): 119109.
Developmental disabilities (DD) affect millions of children worldwide and disproportionately burden low- and middle-income countries. Modifiable risks include early-life clinical procedures and environmental/psychosocial exposures, but syntheses spanning 1990-2025, including the coronavirus disease 2019, remain limited. To narratively review evidence on clinical and environmental risk factors for DD in children < 18 years. PubMed (1990-2025) was searched using SPIDER. Clinical trials, cohorts, and population-based studies were thematically synthesized across clinical procedural and environmental/psychosocial domains. Thirty-two studies were included (19 clinical/procedural; 13 environmental/psychosocial/early intervention), enrolling > 100000 participants; registry studies added > 1.8 million. Cardiac surgery for congenital heart disease was associated with below-average cognitive and motor scores, driven mainly by perioperative complexity, low birth weight, and prolonged intensive care rather than surgical technique. Maternal mental illness was linked to adverse neurodevelopmental outcomes (adjusted odds ratio: Approximately 3-4). Multidomain, family-centered interventions – including telehealth – improved developmental outcomes and reduced delay. Several cohorts reported increased developmental concerns during and after coronavirus disease 2019, particularly in communication and social-emotional domains. Clinical and environmental/psychosocial factors are major, potentially modifiable determinants of DD; priorities include strengthened developmental surveillance, caregiver mental health assessment, and equitable access to early intervention.
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8. Gundeslioglu H, Gray KM, Hewitt OM, Langdon PE. Are There Sex or Gender Differences in Autistic Characteristics? An Umbrella Systematic Review. J Autism Dev Disord. 2026.
PURPOSE: The aim of this umbrella systematic review was to synthesise evidence about sex/gender differences in autism across existing systematic reviews, meta-analyses, and scoping reviews. METHODS: MEDLINE, Embase, Embase Classic, CINAHL, and APA PsycINFO were searched for peer-reviewed articles focused upon sex/gender differences in autistic children, adolescent, or adults, and published in English or Turkish. RESULTS: Analysis of 34 studies showed no conclusive evidence of sex/gender differences in social communication, friendships, play behaviours and motor stereotypies in autistic children, adolescents, and adults. There was evidence that autistic females had fewer restricted and repetitive behaviours and were more capable in their use of camouflaging although autistic males also engaged in camouflaging. There was weak evidence to suggest that autistic male children have superior visuospatial skills, and evidence to indicate sex/gender differences in some aspects of brain development. Chronological age and general intellectual functioning appear to interact with some of these sex/gender differences. CONCLUSION: There was evidence that sex/gender differences amongst autistic people are similar to those seen amongst the general population and are not autism specific. More studies involving equal numbers of both autistic and non-autistic individuals of different sexes/genders are needed to draw more conclusive evidence.
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9. John JR, Budiman WS, Lam-Cassettari C, Grimes PZ, Hingorani K, Kang YQ, Aishworiya R, Sundarimaa E, Volgyesi-Molnar M, Stefanik K, Szekeres A, Mardare I, Rad F, Eapen V. Correction: Cross-cultural associations between behavioural, emotional, and cognitive differences in autistic children and parental wellbeing: evidence from five countries. Front Psychiatry. 2026; 17: 1951636.
[This corrects the article DOI: 10.3389/fpsyt.2026.1850089.].
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10. Koh SH. The impact of dance/movement psychotherapy on social skills in individuals with autism spectrum disorder: a meta-analysis. Front Psychol. 2026; 17: 1768543.
PURPOSE: This study conducted a meta-analysis to evaluate the effectiveness of Dance/Movement Psychotherapy (DMP) on social skills in individuals with Autism Spectrum Disorder (ASD). Although DMP has been widely applied as an embodied and relational intervention, quantitative evidence regarding its impact on social functioning remains limited. METHODS: A systematic literature search was performed across major databases (PubMed and PsycNet) to identify studies published between 2000 and 2025. Eligible studies examined DMP-based interventions targeting social skills in individuals with ASD and included a comparison group. Four studies (k = 4) with a total of 93 participants met the inclusion criteria. Effect sizes were calculated using a random-effects model, and heterogeneity and publication bias were assessed using standard statistical procedures. RESULTS: The meta-analysis revealed a significant overall effect of DMP on social skills (Hedges’ g = -0.97, 95% CI: -1.69 to -0.25), indicating substantial improvement compared with control conditions. Because higher scores on commonly used measures such as the Social Responsiveness Scale reflect greater social impairment, negative effect sizes signify enhanced social skills. Moderate heterogeneity was observed across studies (I (2) = 58.30%), and publication bias analyses suggested limited stability of the pooled effect. CONCLUSION: The findings provide preliminary quantitative evidence suggesting that DMP may contribute to improvements in social skill-related outcomes in individuals with ASD. However, the small number of available studies and indications of publication bias warrant cautious interpretation. Further high-quality randomized studies with standardized outcome measures are needed to strengthen the evidence base for DMP in ASD interventions.
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11. Membrives-Barniol D, Carbó-Carreté M, Guàrdia-Olmos J. Supported Decision-Making Inventory: Psychometric Validation of the Catalan and Spanish Versions. J Appl Res Intellect Disabil. 2026; 39(4): e70295.
BACKGROUND: Supported decision-making is central to rights-based practice, but psychometric evidence in Catalan and Spanish is limited. METHODS: The Supported Decision Making Inventory (SDMI) was translated and adapted for use in Catalan and Spanish. Content validity, internal structure, reliability, measurement invariance and construct-related evidence were examined in 510 adults with intellectual and developmental disabilities receiving services from providers in Catalonia. RESULTS: Expert ratings provided content validity evidence. Confirmatory factor analysis supported the six-factor model (CFI = 0.925, TLI = 0.916, RMSEA = 0.055 and SRMR = 0.055) and scalar invariance across interview language. Reliability evidence varied across domains and subscales, with stronger estimates for environmental demands and decision-making supports than for personal factors. Construct-related evidence was stronger for environmental demands and decision-making supports than for personal factors. CONCLUSIONS: Findings support interpreting Catalan and Spanish SDMI scores at domain and subscale levels to assess supported decision-making and inform support planning. This study translated and adapted the Supported Decision Making Inventory into Catalan and Spanish for use with adults with intellectual and developmental disabilities. The findings support interpreting scores at the domain and subscale levels rather than as a single overall score. Service providers and professionals can use the instrument to identify where a person has opportunities to make decisions, what support is already available, and where more support may be needed. The study provides psychometric evidence for assessing supported decision‐making in Catalan and Spanish and may inform future research and individualised, rights‐based support planning. eng.
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12. Morrier MJ, Schwartz AJ. DSM-5-TR Severity Levels for Autism Spectrum Disorder (ASD): Agreement Between Clinicians Using Telehealth and In-Person Assessment Procedures. Autism Res. 2026: e70351.
The DSM-5/DSM-5-TR includes clinician-reported severity levels to help individualize autism spectrum disorder (ASD) diagnoses. Severity levels for the two core autism domains of social communication and interaction (SCI) and restricted and repetitive behaviors (RRBs) are assigned using a 3-point Likert scale, with higher levels indicating greater symptom severity. Research examining the consistency of DSM-5-TR severity-rating agreement has been limited. Four doctoral-level clinicians independently evaluated 49 toddlers, ages 16-31 months, with each child receiving both a telehealth and an in-person (IPA) comprehensive diagnostic assessment. Previous research using this cohort demonstrated high agreement between clinicians for overall ASD diagnostic outcome. The present study examined agreement in clinician-assigned DSM-5-TR severity levels. Agreement between assessment protocols was fair for SCI (κ = 0.318, 95% CI [-0.114, 0.352]) and slight for RRB (κ = 0.195, 95% CI [-0.046, 0.436]). Further analyses revealed no significant differences in severity ratings based on individual clinician, clinical team, or assessment protocol. These findings suggest that factors beyond the core ASD symptom domains may influence clinicians’ assignment of DSM-5-TR severity levels despite guidance that ratings should reflect impairment within SCI and RRB. The relatively low agreement observed for severity ratings, despite previously demonstrated high agreement for ASD diagnostic classification, suggests that assigning a diagnosis and determining the level of support needed represent distinct clinical decisions. Improving the consistency and transparency of DSM-5-TR severity level assignment may strengthen clinical communication, treatment planning, and equitable access to services while enhancing the reliability and clinical utility of these specifiers across diagnostic settings. Although clinicians showed high agreement when determining whether toddlers were autistic, they showed much less agreement when assigning DSM‐5‐TR severity levels describing the amount of support needed. Because these levels may influence treatment planning, educational programming, insurance authorization, and access to services, clearer guidance for assigning them may help ensure that support recommendations more consistently reflect each autistic person’s needs. eng.
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13. Pak NS, Venne JL, Kaiser AP, Peredo TN. Caregiver-Implemented Lower-Intensity EMT en Español Para Autismo: A Single Case Design Study. Behav Sci (Basel). 2026; 16(8).
Autism is a prevalent neurodevelopmental disability among children in the United States. Enhanced Milieu Teaching (EMT) en Español Para Autismo is a caregiver-implemented language-focused naturalistic developmental behavioral intervention specifically for young children on the autism spectrum whose families are Latino and Spanish-speaking. The current study tested a reduced intensity adaptation of EMT en Español Para Autismo using a single-case experimental design study with four caregiver-child dyads. All children demonstrated characteristics of autism and lived in low-income Spanish-speaking households. Caregivers were taught to use EMT en Español Para Autismo strategies during play with their child using a cyclical teach-model-coach-review approach. Home visits occurred once each week. Three out of four dyads completed the study. None of the caregivers demonstrated functional relations between the cyclical teach-model-coach-review approach and their use of strategies; however, caregivers did increase their use of contingent language models and time delays when intervention began. Caregiver impressions of the intervention were positive, but they varied in their perceptions of some of the strategies (e.g., limiting instructions), consistent with participants in prior studies. Overall, the reduced intensity of the intervention and long gaps between visits may have limited the effectiveness of this intervention compared to findings in prior studies. More research is needed to tailor language interventions for Latino Spanish-speaking families with autistic children, especially those with limited resources.
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14. Rahimi M, Sadeghi S, Kiani M, Pouretemad H. Visual attention and inhibition of school-aged children with autism spectrum disorder level one: Evidence from eye-tracking’s prosaccade and anti-saccade tasks. Appl Neuropsychol Child. 2026: 1-11.
BACKGROUND: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition that is marked by challenges in social communication and the presence of repetitive behaviors. The severity of ASD is categorized into three levels. Children with ASD level 1 (ASD-L1), which is the mildest form, usually have average or above-average intellectual abilities but may experience some cognitive skill deficits. METHOD: This study compares inhibition and visual attention between children with ASD-L1 and typically developing children (TDC). Eye tracking was used to measure prosaccade (visual attention) and antisaccade (inhibition) tasks from the visual-guided saccade paradigm. RESULTS: The study included 16 children with ASD-L1 (mean age = 7.47) and 14 TDC (mean age = 7.69). There was no significant difference in visual attention between the groups, but inhibition was weaker in children with ASD-L1. CONCLUSIONS: These findings highlight that even with typical intellectual abilities, children with ASD-L1 have significant difficulties in controlling automatic responses to achieve behavioral or cognitive goals (inhibition). The results provide insights into the cognitive profile of children with Level 1 ASD, aiding evaluation and treatment. Future studies should further examine the children with ASD-L1 when they are in situations with a high level of cognitive and behavioral conflict.
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15. Reynoso-Vasquez N, Davis K, Sabel G, Sánchez JP. Bridging the Gap: Improving Health Outcomes for Adults With Intellectual and Developmental Disabilities. MedEdPORTAL. 2026; 22: 11630.
INTRODUCTION: Individuals with intellectual and developmental disabilities (IDD) are often affected by multisystem diseases and are considered medically complex. Due to their high need for care coordination, these patients frequently experience health disparities that lead to higher morbidity. A comprehensive primary care approach can lead to improved health outcomes through health promotion and disease prevention. METHODS: We implemented a 60-minute interactive workshop for medical students, internal medicine and pediatric residents, and faculty physicians to increase familiarity with the care of adult patients with IDD and complex medical needs. The workshop consisted of a PowerPoint presentation that included interactive polling and an interactive case study. The workshop was implemented at 2 professional conferences and at the Rutgers New Jersey Medical School Medical Education Conference. RESULTS: There was a total of 30 participants. Comparison of responses to pre- and postworkshop questionnaires showed a statistically significant (P < .001) improvement in participants' confidence regarding their ability to define disability, familiarity with the International Classification of Functioning, Disability, and Health (ICF) model, knowing what entails medical complexity, caring for patients with IDD and complex medical needs, and familiarity with health disparities experienced by patients with IDD. Participants valued the workshop's interactive and engaging nature, particularly the case discussion and application of the ICF model. DISCUSSION: This workshop offered an interactive and effective method for increasing trainees' and faculty's knowledge of caring for patients with IDD, reinforcing the importance of comprehensive and longitudinal primary care assessments to minimize health disparities in this patient population.
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16. Rodrigues JVS, Takeshita WM, Garcia RA, Aranega AM, Molon RS, Theodoro LH. Quality of life and caregiver burden among caregivers of children with autism spectrum disorder and neurotypical children: a cross-sectional study. Einstein (Sao Paulo). 2026; 24(spe3): eAO2383.
OBJECTIVES: This study aimed to compare quality of life and caregiver burden between caregivers and guardians of children with autism spectrum disorder and those of neurotypical children. METHODS: A total of 124 caregivers participated and were assigned to two groups: autism spectrum disorder (ASD; n=62) and neurotypical (NT; n=62). Participants were recruited from a specialized multiprofessional dental care institution. Data were collected using a sociodemographic questionnaire, the WHOQOL-BREF, and the Zarit Burden Interview. Data were tabulated and analyzed using a 5% significance level. RESULTS: The mean age of the children was 9.45 years in the ASD Group and 8.29 years in the NT Group. The proportion of boys was higher in the ASD Group than in the NT Group (p<0.001). Regarding functional independence, 69.4% of children with ASD depended on caregivers for activities of daily living, whereas 67.7% of neurotypical children were independent (p<0.001). For oral hygiene, 64.4% of children with ASD required caregiver assistance, whereas 82.3% of neurotypical children performed oral hygiene independently (p<0.001). Overall quality of life did not differ significantly between groups. However, specific items in the physical and psychological domains differed significantly between groups (Q3: p=0.021; Q4: p=0.001; Q26: p=0.003). By contrast, caregiver burden was significantly higher among caregivers of children with autism spectrum disorder than among caregivers of NT children, as reflected by higher total and domain scores (p<0.001). CONCLUSION: Although caregivers in both groups reported moderate quality of life, those caring for children with autism spectrum disorder experienced substantially greater caregiver burden. These findings support the need for targeted strategies to reduce caregiver stress and improve well-being in families of children with autism spectrum disorder.Brazilian Registry of Clinical Trials: RBR-4cvz58n and U1111-1299-9942.
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17. Singh K, Mogha K, Moctar SMS. AI and neuroimaging in autism spectrum disorder: advances in diagnosis, methodological challenges and future directions. Neurol Sci. 2026; 47(9).
BACKGROUND: Autism Spectrum Disorder (ASD) is characterized by challenges in social interaction, communication, and restricted or repetitive behaviors, with motor abnormalities increasingly recognized as potential indicators for early identification. OBJECTIVE: This paper presents a comprehensive review of recent advancements in ASD research, with particular emphasis on neuroimaging, artificial intelligence (AI), and machine learning (ML)-based diagnostic approaches. The review examines global and country-specific prevalence trends, current diagnostic methodologies, and existing therapeutic interventions. METHODS: Through a critical analysis of the literature, including experimental and review studies, key challenges are identified, such as small sample sizes, limited population diversity, heterogeneous imaging protocols, restricted generalizability, and reliance on single-modal datasets. The review further summarizes publicly available ASD datasets and evaluates the strengths and limitations of contemporary AI-driven neuroimaging approaches for ASD diagnosis. RESULTS: The contributions of this study include a comprehensive synthesis of neuroimaging and AI-based diagnostic methods, an analysis of available datasets, and a critical evaluation of current methodological challenges and future research directions. CONCLUSION: The findings highlight the growing potential of AI-driven tools for supporting early ASD diagnosis while emphasizing the need for standardized protocols, external validation, explainable AI, and clinically translatable frameworks. Future research should focus on improving dataset diversity, conducting multicenter clinical validation studies, and integrating adaptive learning methodologies to enhance the reliability and applicability of ASD diagnostic systems. This study contributes to the growing body of multidisciplinary research aimed at advancing early diagnosis, personalized intervention, and evidence-based clinical decision support for individuals with ASD.
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18. Soltaninejad N, Sobhani-Rad D, Najafi Z, Hoseiny N. Investigating the Relationship between Working Memory and Grammar in Children with High-Functioning Autism. Iran J Child Neurol. 2026; 20(3): 35-44.
OBJECTIVES: Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by impairments in communication, social interaction, and executive functions. Individuals with High-Functioning Autism (HFA) often demonstrate average or above-average intelligence and typical language development. However, difficulties in social communication persist. Previous studies have indicated that children with HFA exhibit challenges in language, particularly in grammar and vocabulary, which may be associated with executive dysfunction, including deficits in Working Memory (WM). Therefore, the present study aimed to investigate the relationship between verbal WM and grammatical abilities in Persian-speaking children with HFA. MATERIALS & METHODS: Twenty monolingual Persian-speaking children diagnosed with HFA, who met the inclusion criteria, were recruited for the study. Morpho-syntactic abilities were assessed through the collection of speech samples analyzed using Persian Developmental Sentence Scoring (PDSS). Additionally, Phonological Working Memory (PWM) tasks, including direct and reverse recall of numbers and repetition of non-words, were administered. Statistical analyses were performed using SPSS software to examine correlations between PWM and grammatical skills. RESULTS: The highest significant correlation was observed between the PDSS and the repetition of three-syllable non-words, while the lowest correlation was found with the immediate repetition of one-syllable non-words. (r = 0.594, p < 0.05). Furthermore, most PDSS subtests demonstrated statistically significant correlations with PWM tasks, with correlation coefficients varying from weak to strong. CONCLUSION: This study concluded that HFA children experience difficulties in their grammatical skills, and a significant relationship is observed between their PWM and grammatical abilities, underscoring the importance of considering PWM in language intervention strategies, particularly targeting grammatical development in these children.
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19. Tolegenova A, Kanderzhanova A, Foster F, Colet P, Somerton M, Stolyarova V, Gareth Noble J. Knowledge, Beliefs, Practice Challenges, Training Barriers and Needs of Kazakhstani Nurses in the Care of Autistic Patients: A Descriptive Cross-Sectional Study. J Autism Dev Disord. 2026.
PURPOSE: To examine nurses’ knowledge, beliefs, challenges in practice, training barriers, and training needs in caring for patients with autism. METHODS: This cross-sectional descriptive study assessed the knowledge, beliefs, challenges, training barriers, and training needs of nurses involved in the care of individuals with ASD in Kazakhstan. Data were collected using purposive sampling from nurses aged 18 years and older working in hospitals, schools, and autism centers through an online survey (in Russian and Kazakh) distributed via email, professional networks, and social media platforms. Descriptive and bivariate analysis were conducted by using the RStudio. RESULTS: The study included 201 nurses, mostly female (89%) with a mean age of 37 years; two-thirds worked in Astana and government facilities, and 66% had over five years of experience. While 69% had encountered ASD cases, knowledge gaps persisted in recognizing traits such as resistance to change (47%), early symptom onset (46%), and object preoccupation (50%). Nurses without ASD training showed the lowest accuracy (45%) compared to those with formal education (61%) or professional development (60%). The support/school group demonstrated the weakest understanding. Although 91% expressed interest in training, barriers included time constraints (33%) and limited availability (30%), underscoring the need for a structured educational program. CONCLUSION: Kazakhstani nurses show strong interest in ASD training but face notable knowledge gaps and misconceptions, especially without formal education or in support roles. Tailored, accessible training addressing barriers like time and availability is essential to enhance their capabilities and improve patient outcomes.
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20. Tripathi A, Kumar R, Kumar K. Methodological Considerations for Interpreting a Short Eye-Tracking Paradigm for Autism Screening. Autism Res. 2026: e70352.
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21. Uğur S, Akbaş E. Investigation of WNT2, DISC1, and DOCK4 polymorphisms in a Turkish autism spectrum disorder cohort: a case-control and bioinformatics analysis. Mol Biol Rep. 2026; 53(1).
BACKGROUND: Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by social communication deficits and repetitive behaviors. The Wnt signaling pathway is a fundamental regulator of neural development, governing critical processes such as synapse formation and axonal guidance. Despite strong biological rationale, population-specific genetic data for Wnt-related candidate genes remain limited. This study investigated the association of WNT2 (rs4727847), DISC1 (rs4366301), and DOCK4 (rs2217262) polymorphisms with ASD in a Turkish population. METHODS AND RESULTS: A case-control study was conducted involving 100 children diagnosed with ASD according to DSM-5 criteria and 100 healthy controls. Genotyping was performed using Real-Time PCR with TaqMan® assays. The groups were comparable in age (p = 0.774) and sex distribution (p = 0.883). Functional relevance was evaluated using bioinformatics analyses, including protein-protein interaction and pathway enrichment analyses. No statistically significant differences were observed in genotype frequencies between ASD and control groups for WNT2 (p = 0.850), DISC1 (p = 0.457), or DOCK4 (p = 0.542). None of the observed associations remained statistically significant after false discovery rate correction. Bioinformatics analyses indicated that all investigated variants were non-coding and functionally connected within SFARI-curated autism-associated molecular networks. GO and KEGG analyses demonstrated enrichment of neurodevelopment-related pathways after false discovery rate correction (adjusted p < 0.05). CONCLUSION: Although no statistically significant genetic associations were identified in the present cohort, the bioinformatics findings suggest that these loci remain biologically relevant within Wnt-related pathways. Future functional and transcriptomic studies are needed to clarify their contribution to ASD susceptibility.
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22. Yardeni-Stern M, Schneider M, Bauminger-Zviely N. Peer interactions in autistic children and adolescents: A systematic review. Res Dev Disabil. 2026; 176: 105366.
Peer interaction plays a central role in social, emotional, and cognitive development across childhood and adolescence. For autistic individuals, difficulties in peer interaction are a defining feature and are associated with reduced participation, limited social learning, and adverse outcomes such as loneliness, rejection, and isolation. Despite its importance, the literature on peer interactions in autism remains fragmented, employing diverse measures, age groups, and study designs, with inconsistent attention to individual and environmental factors. The aim of this systematic review was to examine the quantity and quality of peer interactions among autistic children and adolescents, and to explore how peer interactions are associated with individual and contextual characteristics, including age, sex, autism severity, social skills, cognitive abilities, partner type, and emotional and behavioral factors. Electronic searches (2014-2024), supplemented by manual journal searches, identified 29 quantitative and mixed-methods studies focusing on peer interactions (excluding interventions) among school-age autistic participants. Through inductive thematic analysis, four central themes emerged: peer participation and social network centrality, interaction quality, partner type, and individual differences. Overall, autistic children and adolescents demonstrated lower peer engagement, more peripheral or isolated social positions, and lower peer acceptance compared to non-autistic peers. Importantly, findings showed substantial heterogeneity, influenced by age, autism severity, social skills, cognitive abilities, emotional factors, and partner type. These findings highlight the need for developmentally sustained, peer-based interventions that promote complex interactions, reduce isolation, and value mixed and unmixed peer interactions. Future research should employ consistent, naturalistic measures and diverse samples to capture variability in peer experiences.
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23. Yousefizadeh F, Ebrahimpour Roodposhti M, Ebrahimpour Roodposhti M. A pathway to health: Spiritual health and health-promoting behaviors in parents of children with ASD. J Educ Health Promot. 2026; 15: 316.
BACKGROUND: Caring for a child with ASD presents challenges for parents, affecting their health. Spiritual health can enhance health-promoting behaviors. This study examined the relationship between spiritual health and health-promoting behaviors in parents of children with ASD. MATERIALS AND METHODS: A cross-sectional study was conducted on 178 Iranian parents of children with ASD in 2024 using convenience sampling. Data were collected using demographic, spiritual health, and health-promoting lifestyle questionnaires. Descriptive statistics, independent t-test, one-way ANOVA, and Pearson correlation were used for analysis in SPSS22 with a statistical significance level set at P < 0.05. RESULTS: In this study, 46.6% of the parents were aged 30-40, and 89.9% of them were female. Doctors and health professionals (1.55) and the Internet (1.33) were the most common sources of health information for parents. The mean score of health-promoting behaviors for the parents of the study was 131.60 ± 24.42. The mean spiritual health of the parents was 86.14 ± 19.06. Spiritual health was low in 1.7% of the mothers, moderate in 71.3%, and high in 27%. CONCLUSION: This study found a significant relationship between spiritual health and health-promoting behaviors in parents of children with ASD. Parents with higher levels of spiritual health were more likely to engage in activities that support their overall health. However, a large number of parents report only a moderate level of spiritual health, which highlights the need for targeted interventions. Strategies such as spiritual counseling, spirituality-based programs, and support groups can help improve the spiritual health and health of these parents.
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24. Zalimeni E, Close M, Chopra M, Augustyn M. Challenging Case: A Diagnosis of a Sex Chromosome Aneuploidy in Autism Spectrum Disorder. J Dev Behav Pediatr. 2026.
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25. Zhao J, Wu D, Li Y, Xiong T, Tang L, Hu X, Liu XL, Hao Y. Evaluating the Diagnostic and Concurrent Validity of the DREAM-IT in Mandarin-Speaking Toddlers With Autism Spectrum Disorder and Developmental Language Disorder. Int J Lang Commun Disord. 2026; 61(5): e70321.
BACKGROUND: Early language delay is a common presenting concern among toddlers with autism spectrum disorder (ASD) and developmental language disorder (DLD), creating challenges for clinical assessment and referral decisions. Although ASD and DLD differ in core social-communicative features, restricted/repetitive behaviours, and developmental mechanisms, language-focused assessment may provide complementary information about early communicative profiles. However, culturally adapted tools for assessing early language and communication in Mandarin-speaking toddlers remain limited. METHODS: A total of 213 children aged 24-36 months (ASD = 89, DLD = 60, TD = 64) were recruited from the Child Healthcare Department of a tertiary hospital between 2020 and 2022. Clinical diagnoses were established by multidisciplinary teams based on DSM-5 and CATALISE criteria. Caregivers completed the Diagnostic Receptive and Expressive Assessment of Mandarin-Infant & Toddler (DREAM-IT), which evaluates receptive and expressive language, cognitive play, and social communication. Receiver operating characteristic (ROC) curve analyses assessed discriminative validity across diagnostic groups, logistic regression examined the contribution of DREAM-IT domains to ASD-versus-DLD classification, and concurrent validity was evaluated against GDS, ABC, CARS, and ADOS-2. RESULTS: DREAM-IT showed strong diagnostic accuracy in distinguishing children with ASD or DLD from TD children (AUC = 0.84-0.998), but its ASD-versus-DLD discrimination was domain-specific and more limited. Receptive language provided the strongest ASD-versus-DLD discrimination (AUC = 0.81; sensitivity = 69.1%; specificity = 84.3%; optimal cutoff = 86.5), whereas expressive language, cognitive play, and social communication showed poor-to-limited standalone performance (AUC = 0.51-0.57). Logistic regression indicated that receptive language (OR = 1.10, p < 0.05) and expressive language (OR = 0.77, p = 0.015) independent contributed to ASD-versus-DLD discrimination, with an overall classification accuracy of 79.2%. DREAM-IT classifications demonstrated moderate-to-substantial agreement with established developmental and autism-related instruments, including GDS, ABC, CARS, and ADOS-2 (Cohen's κ = 0.62-0.82). Developmental age comparisons revealed domain-specific lags, with ASD characterized by greater receptive and social delays and DLD showing the largest lag in expressive language. CONCLUSIONS: The Mandarin DREAM-IT provides clinically useful information about early language and communication development in Mandarin-speaking toddlers with ASD and DLD and shows moderate-to-strong concurrent alignment with established developmental and autism-related measures. Its primary value lies in characterizing domain-specific developmental patterns and offering useful complementary information within a broader, multi-method diagnostic framework for Mandarin-speaking populations. WHAT THIS PAPER ADDS: What is already known on this subject Differentiating autism spectrum disorder (ASD) from developmental language disorder (DLD) in toddlers is clinically important but challenging. Both conditions may present with early language delay, while ASD is characterised by core social-communication difficulties and restricted or repetitive behaviours. Accurate interpretation therefore requires a multi-method assessment integrating language evaluation, developmental history, direct observation, and autism-specific measures. However, culturally and linguistically appropriate tools for characterising early language and communication in Mandarin-speaking toddlers remain limited. What this study adds to the existing knowledge This study evaluated the diagnostic accuracy and concurrent validity of the Mandarin DREAM-IT in 213 toddlers with ASD, DLD, or typical development. DREAMIT showed good-to-excellent accuracy in distinguishing children with ASD or DLD from typically developing children, but ASD-versus-DLD discrimination was more limited and domain-specific. Receptive language provided the clearest discriminatory signal, whereas expressive language, cognitive play, and social communication showed substantial overlap. DREAM-IT developmental age scores showed moderate correlations with corresponding GDS measures, and its descriptive rule-based patterns showed substantial agreement with autism-specific instruments. What are the potential or actual clinical implications of this study? DREAM-IT may provide useful caregiver-reported information about receptive language, expressive language, cognitive play, and social communication in Mandarin-speaking toddlers. Its main clinical value lies in characterising domain-specific developmental patterns and providing complementary information within a broader, multi-method assessment framework. It should not be used as a standalone instrument to diagnose ASD or DLD or to differentiate between them. Results should be interpreted alongside developmental history, direct clinical observation, developmental testing, and autism-specific measures.