Pubmed (TSA) du 24/09/26
1. Baisa A, Gantz L, Naamati-Schneider L. A Qualitative Investigation of Therapist and Diagnostician Perspectives on Visual Disorders in Autism Spectrum Disorder. Autism. 2026: 13623613261486405.
Visual behaviors such as reduced eye contact, impaired eye tracking, limited joint attention, delayed responses to visual stimuli, and prolonged visual exploration of objects are central to autism spectrum disorder (ASD) diagnosis and intervention. However, these behaviors may also result from unrecognized visual impairments, increasing the risk of diagnostic overshadowing and suboptimal intervention planning. This study explored how diagnosticians and therapists perceive and address visual impairments in children with ASD, and how clinical reasoning and systemic factors influence their integration into diagnostic and therapeutic processes. A qualitative design was employed, based on in-depth interviews with 23 health care professionals, including developmental pediatricians, psychologists, occupational therapists, and speech-language therapists. Data were analyzed thematically to capture both theory-driven and emergent insights. Four themes emerged: vision assessment as an unstructured component of diagnosis and treatment; limited professional awareness of the vision – ASD relationship; constraints in applying clinical tools and guidelines; and reflective processes elicited during interviews. A persistent gap exists between professionals’ awareness of vision-related difficulties and their systematic integration into ASD care. Structural barriers, including limited follow-up and reliance on parental initiative, hinder translation into practice. Strengthening professional education, interdisciplinary collaboration, and holistic care protocols may improve diagnostic accuracy and intervention effectiveness.Lay AbstractSome behaviors commonly associated with autism spectrum disorder (ASD), such as reduced eye contact, difficulties with visual tracking, or unusual responses to visual information, may also be linked to undetected vision problems. When these difficulties are overlooked, they may be attributed solely to autism and influence decisions about diagnosis and treatment. This study examined how professionals involved in ASD diagnosis and treatment recognize and manage visual impairments in children with ASD, and how clinical reasoning and systemic factors influence their integration into diagnostic and therapeutic processes. In-depth interviews were conducted with 23 health care professionals, including developmental pediatricians, psychologists, occupational therapists, and speech-language therapists. The interviews were analyzed to identify common themes and shared patterns in professional experiences. Professionals described inconsistent approaches to vision assessment, differences in awareness of the relationship between vision and ASD, limited practical guidance, and gaps in how visual concerns are followed up. These findings suggest that vision should be considered more systematically as part of ASD care. Greater professional awareness, clearer referral and follow-up pathways, and stronger collaboration across disciplines could help ensure that visual difficulties are identified and addressed when planning care for children with ASD.
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2. Cartigny A, Gosling CJ, Chatzis G, Godin O, Frajerman A, Humeau E, Atzori P, Pereira SR, Ellul P, Antoun S, Derbel CS, Zante E, Pottelette J, Robert N, Pomies V, Chesnoy G, Weill D, Coutelle R, Speranza M, Amestoy A, Moutier S, Leboyer M, Cortese S, Delorme R. Diagnostic Accuracy of the Autism Diagnostic Interview-Revised and the Autism Diagnostic Observation Schedule, Second Edition, in a Naturalistic High-Risk Autism Spectrum Disorder Sample Aged 6-25 Years. J Am Acad Child Adolesc Psychiatry. 2026.
OBJECTIVE: The Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2) are widely regarded as gold-standard instruments for the diagnosis of autism spectrum disorder (ASD). However, evidence for their diagnostic accuracy in naturalistic clinical settings remains limited among children and adolescents. We assessed their accuracy, individually and in combination, within a real-world clinical sample aged 6-25 years without intellectual disability (ID). METHOD: This retrospective study analyzed 798 participants referred for ASD assessment, reflecting high diagnostic prevalence typical of specialized settings: 336/415 children/early adolescents and 353/383 late adolescents received a final ASD diagnosis. Diagnostic accuracy of both instruments and their combination (‘OR-rule’ and ‘AND-rule’) was assessed against a multidisciplinary consensus clinical diagnosis. RESULTS: The ADI-R showed fair specificity in children and adolescents (82.3% and 86.7%) but poor sensitivity (51.2% and 43.9%). Conversely, the ADOS-2 demonstrated fair sensitivity (89.6% and 80.5%) but poor specificity (50.6% and 66.7%). Allowing diagnosis by either ADOS-2 or ADI-R increased sensitivity at the cost of more false positives, while requiring criteria on both instruments increased specificity at the cost of more false negatives. Exploratory analyses indicated reduced diagnostic accuracy of the two instruments in adolescents and poorer ADI-R accuracy in children with higher IQs, and in female adolescents. CONCLUSION: The ADI-R and ADOS-2, alone or combined, did not achieve clinically acceptable levels of both sensitivity and specificity. Their combination nonetheless supports context-dependent trade-offs between sensitivity and specificity, helping clinicians prioritize either case detection or avoidance of false positives. In conclusion, while the ADI-R and ADOS-2 are valuable assessment tools for individuals without ID, they cannot replace integrated expert clinical judgment.
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3. Dang W, Liang L, Li Y, Tan X, Cao J, Li Z, Liu S, Ma B. [Effect of acupuncture at « Neiguan » (PC6) on behavioral deficits and neuroinflammation in rats with autism]. Zhen Ci Yan Jiu. 2026; 51(9): 1132-43.
OBJECTIVES: To investigate the ameliorative effect of acupuncture at « Neiguan » (PC6) on behavioral deficits, hippocampal neuronal damage, and neuroinflammation in young rats with valproic acid (VPA)- induced autism spectrum disorder (ASD). METHODS: Pregnant SD rats were randomly divided into a control group and a model group. The ASD model was established by a single intraperitoneal injection of VPA (600 mg/kg) on gestational day 12.5. After birth, the offspring young rats were then randomly divided into control (CON), ASD model (model), sham-acupuncture (ASD+sham-Acu), acupuncture (ASD+Acu), solvent (DMSO) control (ASD+DMSO), and positive drug bumetanide (ASD+Bu) groups (n=9 in each group). Manual acupuncture (uniform reinforcing-reducing manipulation) was applied to bilateral PC6 of newborn rats for 30 min, once daily, 6 d a week, for 15 d (from the 7(th) day to the 21(st) day after birth). After acupuncture intervention, behavioral tests including the Morris water maze test, three-chamber social test, and self-grooming test were conducted. The hippocampal tissue was collected for observing changes of neuronal morphology and dendritic spine density by using hematoxylin-eosin and Golgi staining. The expression levels of synapse-related proteins postsynaptic density protein 95 (PSD95), glutamate decarboxylase 67 (GAD67), vesicular GABA transporter (VGAT) and pyroptosis-related proteins NOD-like receptor protein 3 (NLRP3), gasdermin domain-N-terminal (GSDMD-NT) and cleaved Caspase-1 in the hippocampal tissue were detected by Western blot. The levels of hippocampal interleukin (IL)-1β, IL-18 and activity of LDH were measured by enzyme-linked immunosorbent assay. The level of hippocampal reactive oxygen species (ROS) were detected by using commercial kits. The activity of hippocampal Iba1-positive cell (microglia) was assessed by immunofluorescence staining, and the cell apoptosis was detected by TdT-mediated dUTP nick-end labeling staining. RESULTS: Compared with the CON group, the model group showed a significant increase in the escape latency of water maze test, self-grooming times, LDH activity, ROS level, IL-1β and IL-18 contents, expression of PSD95, NLRP3, ratios of GSDMD-NT/GSDMD and cleaved Caspase-1/pro-Caspase-1, number of Iba1-positive cells and the apoptosis rate (P<0.01, P<0.001), and a considerable decrease in the body mass, number of platform crossings and time spent in the target quadrant, social index and social preference, number of dendritic spine, and the expressions of GAD67 and VGAT proteins (P<0.05, P<0.01, P<0.001). In comparison with the model group, both the increased and decreased levels of all the indexes mentioned above were reversed in the ASD+Acu and ASD+Bu groups (P<0.05, P<0.01, P<0.001), and the effects of ASD+Acu were evidently superior to those of ASD+Bu in up-regulating the expressions of GAD67 and VGAT proteins (P<0.05), but inferior to those of ASD+Bu in shortening the escape latency, reducing ROS level, and down-regulating the protein expressions of PSD95 and NLRP3, ratio of cleaved Caspase-1/pro-Caspase-1, and apoptosis rate (P<0.05, P<0.01, P<0.001). The effects of acupuncture were evidently better than those of the sham acupuncture in increasing the body mass and number of platform crossings, shortening the escape latency, prolonging the time spent in the target quadrant, increasing the social index and social preference, reducing the self-grooming times, elevating the number of dendritic spine, and the expressions of GAD67 and VGAT proteins (P<0.05, P<0.01, P<0.001), and in down-regulating the LDH activity and ROS levels, IL-1β and IL-18 contents, and the expressions of PSD95 and NLRP3, ratios of GSDMD-NT/GSDMD and cleaved Caspase-1/pro-Caspase-1, Iba1-positive cell number, and the apoptosis rate (P<0.05, P<0.01, P<0.001). Similarly, in comparison with the ASD+DMSO group, the ASD+Bu group showed a significant improvement in the aforementioned behavioral and molecular biological indexes (P<0.05, P<0.01, P<0.001). CONCLUSIONS: Acupuncture at PC6 can improve social deficits, repetitive stereotyped behavior and cognitive impairment in VPA-induced ASD-like young rats, which may be related to its functions in alleviating hippocampal neuronal damage, regulating the balance of synaptic proteins, and inhibiting oxidative stress and NLRP3 inflammasome-mediated neuroinflammation.
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4. Das N, Dayam N, Raina L, Saharan V, Ao IIT. Paradoxical Behavioural Worsening with Methylphenidate Revealing Underlying Autism Spectrum Disorder. Indian J Pediatr. 2026.
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5. Davidovitch M, Adler L, Shukha M, Hernandez-Diaz S, Weisskopf MG, Rotem RS. Congenital Muscular Torticollis as a Potential Neonatal Marker of Autism Spectrum Disorder and Other Neurodevelopmental Conditions. Res Autism. 2026; 132.
BACKGROUND: Early intervention consistently improves developmental outcomes in children with autism spectrum disorder (ASD) and related conditions, underscoring the importance for timely recognition. Identifying early markers of atypical neurodevelopment is therefore critical. Congenital muscular torticollis (CMT), unilateral shortening of the sternocleidomastoid muscle causing infant head tilt, shares prenatal and perinatal risk factors with ASD and other developmental abnormalities. This overlap suggests that CMT may signal early disruption in neural development, potentially enabling earlier surveillance and intervention. However, large-scale evidence is scarce. METHODS: We used electronic records (live births 2005-2018; follow-up through 2024) from a large Israeli Health Maintenance Organization (HMO) to match 14,150 infants diagnosed with CMT by six months of age with unexposed peers. ASD and related conditions were ascertained via validated algorithms. Upper-respiratory and gastroenteritis infections served as negative control outcomes. Early physical therapy was examined as a potential effect modifier. RESULTS: Children with CMT had increased odds of ASD (odds ratio [OR]=1.25, 95% CI: 1.08-1.45) and developmental language disorder (1.25, 1.16-1.34), relative to unexposed peers. These associations persisted after accounting for maternal and perinatal factors, were absent for the negative control outcomes, and were stronger, though less precise, in infants who received physical therapy. CONCLUSION: CMT is associated with elevated risks for later atypical neurodevelopment. The results suggest a possible etiological link between abnormal neural circuit maturation and musculoskeletal development. Although CMT is often considered benign in infancy, it may represent an early clinical marker of neurodevelopmental vulnerability, highlighting an opportunity for earlier recognition and intervention.
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6. Edara VV, Freeman S, Sampson M, Moore KM, Richardson R, Schoof N, Burgess D, Lee MJ, Tharp GK, Vlasova R, Taylor S, Hodjatzadeh A, Melendez-Alejandro YP, Abdallah SM, Ndungu EW, Mascarenhas AK, Hsu CH, Tu TW, Styner M, Suthar MS, Sanchez MM, Bosinger SE, Burke MW, Sloan SA, Raper J, Chahroudi A. Disrupted neuronal expression of autism risk genes and white matter micro-organization after infant Zika infection. JCI Insight. 2026.
Congenital and early-life Zika virus (ZIKV) infection can result in neurologic deficits. Precise mechanisms of injury, especially in the more subtle presentation of postnatal infection, are not fully elucidated. Here, we defined the effects of ZIKV on the developing brain using single cell transcriptomics, histopathology and design-based stereology, diffusion MRI, and neurobehavioral assessments in infant rhesus macaques. ZIKV upregulated interferon-stimulated genes in activated microglia and cell death pathways in neurons and downregulated metabolism and differentiation genes in mature oligodendrocytes. Abnormal micro-organization of the corpus collosum and limbic white matter tracts was seen on diffusion weighted imaging. A curated gene set associated with autism spectrum disorder risk was negatively enriched in inhibitory and excitatory neurons from ZIKV-infected infants, with increased emotional reactivity already evident two weeks following infection. From single cells to organism-level behaviors, these results define the pathways and processes disrupted by early-life ZIKV infection.
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7. Gabr RI. Toward a Phase-Based Biological Stratification of Autism Spectrum Disorder: A Neuroinflammatory Developmental Framework. Dev Neurobiol. 2026; 86(4): e70063.
Autism spectrum disorder (ASD) is a clinically and biologically heterogeneous neurodevelopmental condition arising from diverse genetic, epigenetic, and environmental influences. Increasing evidence suggests that immune dysregulation and sustained neuroinflammatory mechanisms contribute to the pathophysiology of a biologically defined subgroup of individuals with ASD. However, the temporal evolution of these processes and their relationship to clinical heterogeneity remain poorly understood. We propose a phase-based neuroinflammatory developmental framework in which systemic immune activation in genetically or epigenetically susceptible individuals initiates sustained activation of microglia and astrocytes, cytokine-mediated synaptic dysfunction, and altered neurodevelopmental trajectories. Within this framework, neuroinflammatory activity may precede or accompany developmental regression during an early active phase, followed by progressive synaptic dysfunction and persistent neurobiological sequelae. In later stages, individuals may continue to exhibit core autistic features despite reduced or absent detectable inflammatory biomarkers, providing a potential explanation for the inconsistent biomarker findings reported across the literature. Unlike previous hypotheses that primarily emphasized neuroinflammation as one contributor to ASD, the present framework introduces four conceptual advances: (i) a temporal phase-based model of disease evolution; (ii) a biologically informed stratification of a neuroinflammatory subgroup within ASD; (iii) a mechanistic explanation for temporal variability in inflammatory biomarker detection; and (iv) a series of testable predictions linking biological stage to clinical manifestations and therapeutic responsiveness. Supporting evidence derives from studies demonstrating persistent microglial and astrocytic activation, elevated inflammatory cytokines, synaptic abnormalities, immune dysregulation, developmental regression, and selected cases of autoimmune encephalitis presenting with autism-like phenotypes. Additional translational support arises from mechanistic overlap in neuroimmune signaling and preliminary therapeutic observations involving immunomodulatory and neuromodulatory interventions. The proposed framework generates specific, falsifiable predictions that can be examined using longitudinal biomarker studies, molecular neuroimaging, immune profiling, and stage-oriented clinical trials. If validated, this model could complement existing genetic and neurodevelopmental theories by supporting biological stratification of ASD, facilitating biomarker-guided patient selection, and informing individualized therapeutic strategies alongside established behavioral and rehabilitative interventions.
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8. Galanti M, Boccuto L. Artificial Intelligence and Generative AI in Clinical Trials for Autism and Other Neurobehavioral Disorders. Rev Recent Clin Trials. 2026.
Artificial Intelligence (AI) provides remarkable tools in modern medicine and is widely used to process high-throughput data and integrate different omics-derived models. In recent years, AI, and particularly generative AI (GenAI), has been utilized to design clinical trials for neurobehavioral disorders due to the complexity of variables presented by these conditions. However, ethical and methodological limitations suggest a supporting rather than leading role of AI in the design, management, and interpretation of clinical trials, and caution against moving the human component away from the evaluation of the qualitative as well as quantitative impact of a new treatment protocol.
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9. Li Y, Yu W, Liu R, Xiao P, Li X, Zhang T. Acute Tolerability and Long-Term Surveillance of Fecal Microbiota Transplantation in Children with Autism: A Real-World Study of 604 Procedures. Adv Ther. 2026.
INTRODUCTION: Fecal microbiota transplantation (FMT) is a promising adjunctive therapy for autism spectrum disorder (ASD), yet comprehensive, real-world safety data in pediatric populations remain limited. This study aimed to systematically evaluate the safety profile, temporal kinetics, and risk factors for adverse events (AEs) following FMT in children with ASD. METHODS: We conducted a longitudinal observational study of 224 children with ASD (aged 2-17 years) who underwent a total of 604 FMT procedures. Interventions were administered via oral capsules (Caps), nasojejunal tube (NJT), or transendoscopic enteral tube (TET). AEs were systematically graded using common terminology criteria for AEs (CTCAE) criteria, and a multivariate generalized estimating equations (GEE) model was used to identify independent risk factors. RESULTS: In our study, the overall incidence of AEs across 604 procedures was low at 2.5% (15/604 procedures). All documented AEs had an acute onset (< 48 h post-procedure), were strictly Grade 1 (mild) in severity, and spontaneously resolved (median duration 28.0 h). The most frequent symptoms were vomiting and irritability, with no severe or long-term AEs observed. Delivery route significantly impacted safety, and TET exhibited the highest AE rate (26.3%), whereas Caps (1.7%) and NJT (1.8%) demonstrated favorable tolerability. Multivariate analysis identified TET as the independent risk factor for AEs (adjusted odds ratio 21.90, P < 0.001). CONCLUSION: FMT demonstrates favorable acute tolerability in children with ASD, with long-term longitudinal surveillance showing no delayed adverse outcomes. Oral capsules are associated with a low AE rate and represent a preferred delivery route. TRIAL REGISTRATION: Chinese Clinical Trial Registry, ChiCTR2200055943. Registered 28 January 2022, http://www.chictr.org.cn .
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10. Lin PI, Korach H, Chen YC. Associations of Telehealth Use With Health Outcomes Among Young People With Autism Spectrum Disorder. Psychiatr Serv. 2026: appips20260256.
OBJECTIVE: This study aimed to compare clinical outcomes among children and adolescents with autism spectrum disorder (ASD) who did or did not have documented telehealth (TH) utilization. METHODS: Data were aggregated from electronic health records of 112 health care organizations (queried in March 2026). Patients ages 5-18 years who had received a diagnosis of autistic disorder (ICD-10-CM code F84.0) were assigned to a TH or non-TH cohort. After 1:1 propensity score matching (PSM) across 14 comorbid condition categories, the analysis included 12,380 patients per cohort at 6 months and 15,689 patients per cohort at 12 months. Eight outcomes were assessed: medical noncompliance, antipsychotic initiation, emergency department (ED) visit, inpatient hospitalization, antidepressant initiation, attention-deficit hyperactivity disorder (ADHD) medication initiation, irritability-related encounters, and adaptive behavior treatment. Risk ratios (RRs), hazard ratios, and encounter frequencies were derived. RESULTS: PSM cohorts were well balanced. In the 6-month analysis, TH use was associated with lower antipsychotic initiation (RR=0.81) and hospitalization (RR=0.69) but more ED visits (RR=1.39), irritability-related encounters (RR=2.49), and adaptive behavior treatment (RR=5.17). In the 12-month analysis, higher irritability (RR=2.29) and adaptive behavior treatment (RR=3.40) persisted in the TH cohort, which also had increased antidepressant (RR=1.17) and ADHD medication initiation (RR=1.12) and greater medical noncompliance (RR=1.84). CONCLUSIONS: TH use by young people with ASD was associated with lower rates of hospitalization and antipsychotic initiation at 6 months, although not at 12 months. TH use was also associated with increased irritability-related encounters and adaptive behavior treatment. These findings highlight the need for tailored hybrid care strategies.
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11. McAdams E, Quinton AMG, Charlton RA, Happé F, Stewart GR. Trauma and PTSD Symptoms: Exploring the Experiences of Autistic and Non-Autistic Adults in Midlife and Old Age. Autism. 2026: 13623613261486059.
Autistic children and young adults have been found to experience high rates of traumatic life experiences and symptoms of post-traumatic stress disorder (PTSD) when compared to non-autistic peers. Despite the lifelong nature of autism, these issues have yet to be studied in middle-aged and older autistic adults. This study used data from the AgeWellAutism study (autistic n = 446, non-autistic n = 183; aged 40%-90, ~55% female). Participants completed standardised measures of childhood and adulthood trauma, and symptoms of PTSD. The autistic group, particularly autistic women and people in midlife, reported significantly higher rates of childhood and adulthood trauma, including emotional and physical abuse/neglect and sexual abuse. The autistic group reported more PTSD symptoms than the non-autistic group. PTSD symptoms showed stronger associations with childhood and adulthood trauma in the autistic versus non-autistic group. Autism group membership remained a significant predictor of PTSD symptom scores when controlling for differences in reported trauma. These findings provide further evidence to suggest that autistic adults are at higher risk for trauma and developing symptoms of PTSD. Longitudinal studies are required to examine changes in trauma risk, impact and subsequent PTSD symptoms. This study underscores the need to develop evidence-based interventions to prevent trauma and address PTSD symptoms in autistic populations as they age.Lay AbstractAutistic people are more likely than non-autistic people to experience difficult and distressing life events, such as abuse, neglect or bullying. These experiences can lead to long-term emotional difficulties, including symptoms of post-traumatic stress disorder (PTSD). However, most previous research has focused on autistic children and young adults, and little is known about trauma and PTSD in middle-aged and older autistic adults. This study used information from over 650 adults aged 40 to 90 who took part in an online survey, called the ‘AgeWellAutism study’. Everyone completed questionnaires about traumatic experiences in childhood and adulthood and about current PTSD symptoms. The results showed that autistic adults reported more traumatic experiences than non-autistic adults, especially autistic women and people in midlife (adults aged 40-64 years old). They also reported more symptoms linked to PTSD, and the impact of trauma on PTSD symptoms was stronger in autistic adults than in non-autistic adults. Even when differences in reported trauma were taken into account, autistic adults still reported higher levels of PTSD symptoms. These findings suggest that autistic adults may be at greater risk of experiencing trauma across the lifespan and developing symptoms of PTSD than non-autistic adults. The study highlights the need for better prevention efforts and improved mental health support for autistic people across the lifespan.
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12. Qiu X, Dang W, Ma B, Xing W, Zhang X, Du J, Kong Y. Corrigendum to « Developmental linearization of functional connectivity and its alteration in males with autism spectrum disorder » [Dev. Cogn. Neurosci. 80 (2026) 101764]. Dev Cogn Neurosci. 2026: 101825.
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13. Rebecchi K, Nordahl-Hansen A. Short Report: Autism in Popular Media: A Google Trends Analysis of Public Interest. Autism. 2026: 13623613261489305.
Public interest in autism-related topics can be tracked through online search behaviour, yet little is known about how popular media portrayals structure this interest over time. This study analysed Google Trends data for autism and Asperger between 2004 and 2025, focusing on popular media-related results within the categories Movies and TV & Video. Results showed a progressive increase in search interest for autism and a decline for Asperger in both categories, alongside a marked concentration of attention around a small number of highly recurrent media references. Male-coded characters dominated the sample, although several recent female portrayals generated substantial interest. These findings highlight the role of popular media in shaping the terms, figures and representations through which autism becomes visible online.Lay AbstractThis study looked at how people search online for information about autism and Asperger’s, and how popular movies and TV shows influence that interest. By analysing Google Trends data from 2004 to 2025, we found that searches for autism have steadily increased, while searches for Asperger have declined. A small number of media portrayals accounted for most of the search activity, showing that certain portrayals strongly shape public curiosity. Most of these characters were male, although interest in female autistic characters has grown in recent years. Overall, the findings suggest that popular media play an important role in how the public learns about and understands autism, influencing which terms, stories and representations become most visible online.
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14. Scuffham PA, Kirk EP, Delatycki MB, Downes M, Laing NG. Initial Review of Government-Funded Reproductive Carrier Screening for Cystic Fibrosis, Spinal Muscular Atrophy and Fragile X Syndrome. Prenat Diagn. 2026.
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15. Smith RL, Liao Y, Klei L, Zhang L, Ma Y, Tang M, Satterstrom FK, Auwerx C, Fu JM, Buxbaum JD, Daly MJ, Talkowski ME, de la Torre-Ubieta L, Kozorovitskiy Y, MacDonald ML, Roeder K, Devlin B, Gandal MJ. Autism genes converge on three functional programs organized by neuronal subclass, developmental timing, and cortical patterning. bioRxiv. 2026.
Our companion sequencing study uncovered 253 genes robustly associated with autism spectrum disorder (ASD), yet the biological programs they impact, and the cellular, developmental, and spatial contexts in which they converge, remain unresolved. Here we systematically contextualize genes associated with ASD across neurodevelopment and cortical areas, integrating developmental single-cell and spatial atlases with gene- and isoform co-expression, regulatory, proteomic, and synaptic networks. Genetic burden concentrates within temporally-resolved neuronal subclasses: newborn excitatory neurons, immature interneurons, and maturing intratelencephalic lineages. Genes associated with ASD converge on three functional programs-gene regulation, neuronal morphogenesis, and synaptic transmembrane signaling machinery-resolved from 28 ASD-associated networks, several of which are directly regulated by ASD genes including MEF2C , SOX11 , and FOXP2 . These programs are spatially patterned, with risk genes exhibiting an increasing anterior-to-posterior cortical expression gradient, anchored in the primary visual cortex and driven by excitatory neuron gene-regulatory programs. Finally, ASD risk genes associated with more severe developmental phenotypes show broader excitatory neuron enrichment and less interneuron involvement. Together, these findings anchor ASD genetic vulnerability to specific neurodevelopmental lineages, epochs, and molecular substrates, and delineate the features that distinguish ASD from comorbidities with broader developmental impacts.
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16. St John T, Dichter GS, Hartley S. Memory, attention, and executive function in intellectual and developmental disabilities. J Neurodev Disord. 2026; 18(1).
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17. Susarla V, George M, Rathinam A, Bhatti D. Which Children with Autism Spectrum Disorder Have Abnormal Brain MRI Findings? Clinical Correlates in a 1884-Patient Cohort. Neurol Int. 2026; 18(9).
Background: Brain MRI in patients with autism spectrum disorder (ASD) is generally considered when additional neurologic, developmental, or syndromic concerns warrant structural evaluation. In the study practice, ASD alone was not used as the reason to obtain MRI. We examined documented MRI use and broad result coding while explicitly separating selection for imaging from abnormal-result status. Methods: This retrospective specialty-practice cohort included 1884 patients with ASD. The primary outcome was the proportion of documented MRI examinations coded abnormal. Secondary analyses examined associations of age, sex, seizure history, EEG status, and genetic test status with abnormal versus normal MRI coding and with documented MRI utilization. MRI categories and the pediatric restriction were exploratory and sensitivity analyses. Results: An MRI result was recorded for 704 patients (37.4%; 95% CI 35.2-39.6); 322 were coded abnormal (45.7%; 95% CI 42.0-49.5). The abnormal-result models had low in-sample discrimination (AUC 0.528 and 0.553), and adjusted confidence intervals for all measured variables included 1.00; these results do not demonstrate equivalence between clinical groups. Seizure history was associated with documented imaging in the full cohort (aOR 2.47, 95% CI 1.94-3.14), and abnormal EEG was associated in the exploratory complete-case utilization model (aOR 2.83, 95% CI 1.93-4.14). Conclusions: Broad MRI abnormalities were frequent among patients selected for imaging because of additional clinical concerns, but a broad abnormal code is not equivalent to clinically actionable yield. The routinely captured variables available in this dataset were insufficient to distinguish abnormal from normal MRI coding. These findings favor individualized MRI decisions based on the clinical question prompting imaging and motivate future studies with richer neurologic and developmental phenotyping.
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18. Vela Llauradó E, Martín Martínez L, Serrano Fernández L. Living with Disability in the Family: Care Demands, Adaptation, and Inequality Across Developmental Disability Contexts. Intellect Dev Disabil. 2026: 1-17.
Families are key sites where disability is lived and organized in everyday life, yet the social and care-related demands placed on families vary across disability contexts. This study examines how different developmental disabilities shape family functioning, adaptive processes, and inequalities in everyday care. Drawing on questionnaire data from one parent per family in 937 Spanish families of children with intellectual disability (ID), motor disability, or autism spectrum disorder (ASD), the study compares three measurement models of family functioning: the Family Adaptability and Cohesion Evaluation Scale (FACES-20Esp), the Family Management Measure (FaMM), and the Family Appearance, Pulse, Grimace, Activity, and Respiration (APGAR) scale. The analysis examines the reliability and interrelationships of these instruments, as well as how emotional cohesion, adaptability, and the everyday management of disability vary across disability groups. The findings indicate that families of children with ASD experience greater care-related difficulty and lower adaptability, whereas families of children with ID show higher adaptive flexibility. Across disability contexts, emotional cohesion and parental mutuality remained relatively stable, showing no significant differences by disability type. These results highlight how disability produces uneven family experiences and care burdens, with implications for family-centered support and social policy.