Pubmed (TSA) du 23/01/26
1. Prenatal acetaminophen use and autism. Med Lett Drugs Ther. 2025; 67(1743): 193-5.
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2. Expression of Concern: Data Mining-Based Model for Computer-Aided Diagnosis of Autism and Gelotophobia: Mixed Methods Deep Learning Approach. JMIR Form Res. 2026; 10: e91833.
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3. Bhalla S, Srivastava R. Gut Microbiota and Mitochondrial Dysfunction in Autism: Clinical Correlations and Future Directions. Mol Neurobiol. 2026; 63(1): 392.
Autism spectrum disorder (ASD) is a multifactorial, neuro-psychiatric, and neurodevelopmental illness possessing impaired social, behavioral, and communicative presentations. Research suggested the important role of the gut-brain axis in ASD, especially related to gut dysbiosis and mitochondrial dysfunction. This review comprehensively summarizes the existing evidence of the association between gut microbiota, microbial metabolites, and mitochondrial dysfunction in ASD, comprising of clinical, experimental, and epidemiological data over the last decade. The focus was on the research that clarifies the gut-mitochondria crosstalk and role in ASD pathophysiology. ASD patients demonstrate a substantial shift in the variety of gut microbiota, such as a decrease in the number of beneficial microbes and the growth of pathogenic taxa. These changes affect the biosynthesis of major neuroactive metabolites executing immune modulation and neurotransmission. The review detects the microbial metabolites that regulate mitochondrial activity through mechanisms like vagus nerve, intestinal hormones, and immune signaling. The different mitochondrial signaling pathways were inhibited including AMPK, mTOR, and NF-κB. Preventive interventions that concentrate on modulation of the microbiome and mitochondria may present a prospective line of therapy. Nevertheless, uncovered gaps should be mentioned in future research, multi-omics studies, longitudinal studies, and the protocol to understand the components of gut-brain axis in ASD to develop personalized therapy.
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4. Chege M, Shafai F, Yang F, Montenegro J, Stow M, Ho TWW, Abraham AE, Gateman E, Stevenson RA. Pupil Dilation to Dynamic Audiovisual Emotional Speech Reflects Autistic-Trait Variation in Neurotypical Adults. Psychophysiology. 2026; 63(1): e70237.
Autistic individuals commonly exhibit difficulties with emotion recognition, difficulties that contribute to social issues in Autism. Both emotion recognition and social abilities are distributed along a spectrum in Autism and the general population. We explored how Autistic traits, including social abilities, relate to emotional processing measured via pupil dilation in a neurotypical population. We presented participants with dynamic, audiovisual stimuli of actors uttering a semantically neutral phrase. These utterances were expressed with either a neutral tone of voice and facial expression, or with an angry, fearful, disgusted, happy, sad, or surprised tone and expression. Each emotion was presented with high- and low-intensity depictions. Participants were asked to identify the emotion and rate its intensity. Participants’ pupillary responses were recorded during viewing. Traits associated with Autism were measured through a battery of self-report scales. We then tested for associations between Autistic traits and pupillary response to emotional stimuli. Broadly speaking, individuals with higher Autistic traits exhibited smaller overall pupillary responses to emotional stimuli. More specifically, this relation was driven by socio-communicative traits (Social Motivation, Social Knowledge). Further, social traits were especially correlated with physiological responses to low-intensity emotional presentation. This reflects previous studies suggesting that Autistic individuals show more pronounced difficulties with emotion recognition when emotional expression is more subtle. Finally, social Autistic traits were related to physiological responses to anger, fear, surprise, sadness and to a lesser extent happiness, but not disgust.
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5. Clintberg K, Sacrey LR, Zwaigenbaum L, Brian JA, Szatmari P, Vaillancourt T. Parental concerns correspond to earliest age of autism diagnosis in increased likelihood infant cohort. Front Child Adolesc Psychiatry. 2025; 4: 1722543.
Autism spectrum disorder (ASD) encompasses a set of behavioural features with a diverse range of presentations, challenges, and trajectories. Previous research has demonstrated how behavioural and developmental markers can differentiate autistic from non-autistic children as early as the first year of life, however there is a dearth of literature demonstrating heterogeneity amongst the clinical presentations of autistic infants. An understanding of the breadth of experiences is necessary to refine and expand early identification methods to identify those currently being overlooked. The current study examined the heterogeneity of early behaviour in a longitudinal cohort of infant siblings of autistic children (n = 72) who later received an ASD diagnosis. Parent reports of early behaviour, generated at six time points between six and 24 months of age, describing the presence or absence of concerns across 10 developmental domains, were assessed to compare subgroups of infants based on the earliest age they were diagnosed as autistic (18, 24, or 36 months). The average number of concerns across domains, in addition to the proportion of each subgroup reporting a concern in each of the 10 domains, was compared at each time point. The infants diagnosed at 18 months had a higher average number of concerns across all time points compared to those diagnosed at 24 or 36 months, who demonstrated similar profiles. Play, language, and language regression concerns resulted in the largest effect sizes between groups. These findings indicate that (i) there is heterogeneity in early autism presentations, (ii) within the context of early identification, lack of diagnosis at one age does not eliminate the possibility of future diagnosis, and (iii) that parent reports of early concerns can provide valuable information that can alert clinicians to the features of autism, further attention to which may help reduce disparities in age of diagnosis.
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6. Ferguson HJ, Smith M. EXPRESS: Eye-tracking the production of counterfactual alternatives to narrative events in autistic adults. Q J Exp Psychol (Hove). 2026: 17470218261419775.
Research has found atypical counterfactual production in autistic children, yet intact counterfactual reasoning in autistic adults. To date, however, no research has investigated counterfactual production in autistic adults. The current study combined a counterfactual production task with eye-tracking in the visual world paradigm to examine how autistic and neurotypical adults plan and initiate counterfactual responses. Autistic participants showed slower speech initiation and more disfluencies, consistent with broader speech production patterns, but did not experience greater difficulties with counterfactual production itself. Both groups also showed a comparable preference to produce additive counterfactuals, suggesting developmental convergence by adulthood. In contrast, while both groups showed a strong preference to produce and fixate human causes, this bias was stronger among neurotypical adults than autistic participants, who more often considered physical causes and were less influenced by salient social cues. Additionally, speech-locked eye movements revealed group differences: neurotypical adults flexibly modulated their gaze to human causes depending on whether they produced factual or counterfactual responses, whereas autistic adults showed more uniform gaze patterns across conditions. These findings highlight shared competencies but distinct social-cognitive strategies in counterfactual production across groups.
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7. González-Paz L, Vivas A, Cardozo-Urdaneta A, Lossada C, Mendez A, Delgado A, Marrero-Ponce Y, Martinez-Rios F, Pérez-Castillo Y, Alvarado YJ. Modeling the functional impact of CPEB3 and CPEB4 dysregulation in autism: A theoretical-computational framework. Mol Cell Neurosci. 2026; 136: 104072.
Autism spectrum disorder (ASD) involves impaired synaptic plasticity tightly coupled to local mRNA translation. Cytoplasmic polyadenylation element-binding proteins 3 and 4 (CPEB3 and CPEB4) are post-transcriptional regulators of neuronal mRNA translation that may contribute to ASD-related molecular alterations. In this theoretical-computational study, we develop a weighted functional impact model that integrates transcriptomic expression with intrinsic molecular constraints of CPEB3 and CPEB4 to estimate regional and cell type-specific vulnerability in ASD. Coarse-grained molecular dynamics (MD) simulations were quantitatively analyzed to assess aggregation, diffusion, and cluster stability under cell type-specific cytoplasmic conditions, with statistical uncertainty explicitly evaluated. The anterior cingulate cortex and thalamus emerged as primary vulnerability sites. Despite higher CPEB4 expression-mainly in glial cells-our weighted functional impact model predicted greater theoretical susceptibility linked to CPEB3 dysfunction, particularly in inhibitory and excitatory neurons. MD simulations revealed that CPEB3 forms transient diffusion-permissive aggregates, whereas CPEB4 tends to assemble into more stable condensates. These complementary behaviors suggest differential but interdependent regulation of neuronal and glial functions. Importantly, the proposed framework provides experimentally testable predictions on how protein-protein interactions, microexon loss, and cytoplasmic crowding influence translational control in ASD. This integrative approach provides a quantitative and biologically grounded framework to investigate how post-transcriptional regulators contribute to ASD-relevant molecular vulnerability.
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8. Kang J, Li Y, Wu J, Mao W, Li X, Li X, Su R. Static and dynamic low- and high-order brain functional network modulations by tDCS in children with autism spectrum disorder. Dev Neurorehabil. 2026: 1-15.
BACKGROUND: Autism spectrum disorder (ASD) is characterized by aberrant functional brain connectivity and deficits in network dynamics. Transcranial direct current stimulation (tDCS) has emerged as a promising intervention with potential therapeutic effects; however, its effects on both static and dynamic functional brain network organization remained insufficiently understood. METHODS: A total of 42 children with ASD aged 4-6 years were enrolled and randomly assigned to either active tDCS or sham stimulation groups. Resting-state electroencephalography (EEG) data were acquired before and after the intervention. Low-order functional connectivity (LOFC) and high-order functional connectivity (HOFC) networks were constructed, followed by graph-theoretical analyses to assess clustering coefficient, characteristic path length, global efficiency, and local efficiency. Furthermore, state entropy was employed to evaluate dynamic network transitions between integrated and segregated states. RESULTS: Active tDCS was associated with increased LOFC strength in the delta, alpha, and beta bands, and more widespread increases in HOFC across all examined frequency bands. Changes in network topology were primarily observed in HOFC, with reductions in characteristic path length and increases in global and local efficiency, particularly in the delta and theta bands. Dynamic network analysis indicated that tDCS modulated state entropy at specific time scales in both LOFC and HOFC networks. These findings suggest shifts in functional coordination and temporal variability among the recorded regions. Behavioral measures exhibited a trend toward improvement in the active group; however, these changes were not the focus of the present analysis, and their relationship to neural modulation remains to be clarified in future work. CONCLUSIONS: tDCS modulated functional interaction patterns and dynamic state characteristics among the recorded brain regions in children with ASD. These results provide preliminary neurophysiological evidence regarding the influence of tDCS on both static and dynamic network organization and highlight potential network-based markers to guide future individualized neuromodulation research. Further studies with larger samples and longitudinal follow-ups are needed to clarify the functional and clinical significance of these network-level changes. tDCS modulated both static and dynamic brain networks in children with ASD.High-order networks showed more extensive modulation than low-order networks.tDCS influenced the temporal dynamics of brain networks.The findings offered preliminary neurophysiological markers for neuromodulation. eng.
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9. Laaraje A, Radi A, Ait Hmadouch S, Abilkassem R. Novel MCT8 mutation: diagnostic value of T3/T4 ratio. J Pediatr Endocrinol Metab. 2026; 39(1): 91-5.
OBJECTIVES: To highlight the diagnostic value of the T3/T4 ratio in Allan-Herndon-Dudley syndrome (AHDS) through a case report of a novel SLC16A2 mutation. CASE PRESENTATION: We report a 36-month-old boy with severe neurodevelopmental delay and axial hypotonia. Initial thyroid function tests at 10 months showed TSH at 4.77 μIU/mL and T3 at 8.9 pmol/L. Brain MRI was normal. At 28 months, genetic analysis identified a novel hemizygous c.1343_1344dup mutation in the SLC16A2 gene. Follow-up thyroid profiling at 36 months revealed the characteristic AHDS pattern: elevated free T3 (10.20 pmol/L), low free T4 (7.80 pmol/L), and borderline high TSH (5.20 μIU/mL), with a T3/T4 ratio of 1.31 pmol/pmol. CONCLUSIONS: This case highlights the diagnostic value of the T3/T4 ratio (>0.75 pmol/pmol) as an essential biochemical marker of AHDS in any male infant presenting with unexplained developmental delay and hypotonia. A systematic diagnostic approach including early T3 measurement and T3/T4 ratio calculation should be applied in the initial evaluation of severe developmental delays, even in the presence of normal brain MRI findings, to avoid diagnostic delays in AHDS.
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10. Li X, Yao S, Pan P, Zhou J, Wang J. Effects of Thyroid Hormones on Brain Development: Cytoarchitecture and Neurodevelopmental Disorders. Faseb j. 2026; 40(2): e71487.
Thyroid hormones (THs) are endocrine factors that play an important role in brain development by modulating several neurodevelopmental processes, including neuronal migration, synaptogenesis, and myelination. Therefore, adequate regulation of these hormones is important for the structure and function of the brain. Recently, a close association between THs deficiency or dysfunction has been found with several neurodevelopmental disorders, including autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). These results imply that thyroid hormones play an important role in the occurrence of neurodevelopmental disorders. In this review, we thoroughly investigate the biosynthetic pathways and regulatory mechanisms involved in thyroid hormones production. We also assess the importance of thyroid hormones during different periods of brain development, as well as the underlying molecular processes. Finally, we extend our discussion to explore the relationship between thyroid hormones and neurodevelopmental disorders. The objective is to provide mechanistic and clinical insights and to identify promising research avenues that could facilitate earlier diagnosis and intervention for these conditions.
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11. Lin CY, Kang LJ, Liao HF, Cheong PL, Yen CF, Liou TH, Wu YT, Yang PY. Participation patterns and associated factors in children and adolescents with autism spectrum disorder: A nationwide population study. Res Dev Disabil. 2026; 169: 105232.
BACKGROUND: Participation is central to development and quality of life in autism spectrum disorder (ASD). Most evidence derives from Western populations, and little is known about how body function and environmental components of the International Classification of Functioning, Disability and Health (ICF) shape participation across developmental stages in East Asia. PURPOSE: To examine participation patterns and associated factors among Taiwanese children and adolescents with ASD using a national dataset. METHODS: Data were drawn from the Taiwan Databank of Persons with Disabilities, including 5190 children (aged 6-12) and 3603 adolescents (aged 13-17) with clinically confirmed ASD. Participation frequency and independence across six domains were assessed using the Functioning Scale of the Disability Evaluation System-Child version (FUNDES-Child). Body function and environmental factors were evaluated with standardized subscales. Analysis of covariance compared age groups, and multiple regression identified predictors. Robustness was tested using E-values. RESULTS: Children showed lower participation frequency, whereas adolescents had reduced independence in social domains. Mental and speech impairments were the strongest limiting factors, while physical and sensory impairments were less influential. Environmental supports, particularly caregiver assistance, social attitudes, and accessibility, were significant predictors. E-values indicated moderate robustness for daily living and mobility (3.11 – 3.47), very high robustness for environmental assistance and social attitude supports (27.7). CONCLUSION: Findings highlight the interplay of functional limitations and contextual supports. E-value analyses confirm the robustness of communication-related impairments and environmental supports, suggesting interventions in these domains are most reliable for enhancing participation in East Asian children and adolescents with ASD.
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12. Madhavan A, Schiano-Visconte M, Dutton L, Cantalupo M, Balasco L, Mavillonio A, Chelini G, Bozzi Y, Pangrazzi L. Astaxanthin improves behavioural and immune dysfunction in the Shank3b mouse model of autism spectrum disorder. Biomed Pharmacother. 2026; 195: 119051.
Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by deficits in social communication and interaction, and repetitive behaviours. Numerous studies have associated ASD with immune dysregulation and inflammation, with neuroinflammatory processes reported in ASD individuals and mouse models. Altered immune cell profiles and cytokine levels have been observed in the peripheral blood (PB), supporting systemic immune dysfunction. Recently we showed that the administration of antioxidant molecule N-acetylcysteine (NAC) reduced oxidative stress and inflammation and counteracted behavioural deficits in two mouse models of ASD, providing a rationale for exploring other redox-active compounds. Here, we investigated the effects of astaxanthin (AST), potent antioxidant and anti-inflammatory molecule, in the Shank3b model (Shank3b(-/-) mice). AST treatment significantly improved core ASD-like behaviours, including social interaction deficits, motor incoordination, and repetitive grooming. In the cerebellum, AST reduced pro-inflammatory cytokines and counteracted microglial hyperactivation. In peripheral immune compartments, AST modulated cytokine expression. Pro-inflammatory markers were downregulated in Shank3b(-/-) mice in the bone marrow and spleen while they were elevated in Shank3b controls, suggesting immune rebalancing (i.e. adaptive modulation suppressing harmful inflammation while supporting protective immunity). As a limitation, oxidative stress assays were not performed here. Receiver operating characteristic (ROC) analysis suggests that TNF and IFNγ expression in peripheral immune cells may be promising biomarkers of treatment response. Notably, unlike NAC, AST did not induce pro-inflammatory effects in Shank3b(+/+) animals. These findings show that AST administration may counteract behavioural deficits and immune dysfunction in Shank3b(-/-) mice, therefore suggesting its potential as a safe immunomodulatory therapy for ASD.
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13. Mooney KE, Dickerson J, Blower SL, Walker M, Lister J, Pickett KE. king Do socioeconomic inequalities contribute to the high prevalence of child developmental risk in an ethnically diverse, socioeconomically disadvantaged population? A Born in Bradford’s Better Start (BiBBS) study. BMJ Paediatr Open. 2026; 10(1).
BACKGROUND: Socioeconomic inequalities in child development are pervasive; however, less is known regarding the impacts of socioeconomic factors within and across ethnically diverse and socioeconomically disadvantaged populations. This study (1) describes the prevalence of children at risk of poor overall early child development; (2) investigates the relationship between individual indicators of socioeconomic position and early child development; and (3) investigates if the relationship between indicators of socioeconomic position and early child development varies by ethnic group. METHODS: This study uses data from a prospective birth cohort study, Born in Bradford’s Better Start (BiBBS). Child development was measured with the Ages and Stages Questionnaire (ASQ) during routine health visiting appointments at age 2-years-old. Binary logistic regression investigated child development by key maternal socioeconomic indicators: maternal education, financial security, social status (measured via the MacArthur Scale of Subjective Social Status), and social support (measured via number of people to count on). RESULTS: 22% of the 2003 children with a valid developmental assessment were at risk of poor child development. Mothers who had a degree (OR=1.95, 95% CI 1.28 to 2.99), reported ‘living comfortably’ in financial security (OR=1.78, 95% CI 1.03 to 3.07) and had higher social status (OR=1.11, 1.02 to 1.22); all had higher odds of their child having a good development. Though socioeconomic gradients in maternal education and financial security were consistent across White British, South Asian and Other ethnic groups, both social support and social status had weaker relationships with child development for South Asian parents. CONCLUSION: A high proportion of children are at risk of poor development in this diverse, socioeconomically disadvantaged population. Higher socioeconomic position may protect against poor early development, and the mechanisms underlying this may differ by ethnicity. The findings underline the need for proportionate universal strategies to improve child development in such communities.
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14. Morales A, Korsakova E, Mansooralavi N, Ravikumar A, Rivas G, Soliman P, Rodriguez L, Galvan C, McDaniel T, Lund A, Cooper B, Bhaduri A, Lowry WE. Probing DNA damage in Rett syndrome neurons uncovers a role for MECP2 regulation of PARP1. Stem Cell Reports. 2026: 102819.
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15. Park SK, Lee H. Latent profiles of depression and post-traumatic growth and their associations with social support and religious participation in mothers of children with developmental disabilities in South Korea. Res Dev Disabil. 2026; 169: 105235.
BACKGROUND: Mothers of children with developmental disabilities (DD) experience chronic and cumulative stress, yet many also report positive psychological changes such as post-traumatic growth (PTG). Few studies have examined how depression and PTG co-occur as distinct mental-health patterns or how psychosocial resources influence these profiles. This study identified latent profiles of depression and PTG among Korean mothers of children with DD and examined whether social support and religious participation predicted profile membership. METHOD: A total of 488 mothers of children with DD participated in a survey conducted in Seoul and surrounding areas (2017-2018). Measures included the Post-Traumatic Growth Inventory, PHQ-9 depression scale, perceived informal support, formal service use, and religious participation. Latent profile analysis (LPA) was used to identify distinct psychological profiles, followed by multinomial logistic regression to examine predictors of class membership. RESULTS: A three-class solution best represented the data: (1) Low PTG/High Depression (13.4 %), (2) Moderate PTG/Moderate Depression (47.9 %), and (3) High PTG/Low Depression (38.6 %). Higher levels of family support, formal support services for caregivers, and active religious participation significantly increased the likelihood of belonging to the High PTG/Low Depression class. Self-rated health also differentiated class membership. CONCLUSIONS: Mothers of children with DD demonstrate heterogeneous combinations of distress and growth, supporting a dual-axis understanding of mental health. Social support-especially family support-and active religious participation emerged as key correlates of more adaptive profiles. Findings highlight the importance of culturally embedded support systems and tailored interventions that address both distress reduction and growth promotion.
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16. Pomè A, Wiesing M, Zimmermann E. Reduced prediction updating shapes serial dependence in autistic traits. BMC Biol. 2026; 24(1): 23.
BACKGROUND: Serial dependence, the influence of prior experience on current perception or decision, has typically been studied in static, perceptual contexts. Here, we investigate whether serial dependence reflects not just passive carryover but feedback-based updating of internal models, and how this process varies with autistic traits. In an immersive virtual reality penalty-kick task, participants kicked a ball that disappeared mid-flight and estimated its landing position. By laterally displacing the ball upon reappearance, we introduced trial-by-trial prediction errors. RESULTS: We found that individuals with higher autistic traits showed larger prediction deviations, indicating mis-calibrated forward predictions. At the same time, their responses were more strongly shaped by those priors, and unlike lower autistic traits individuals, they did not down-weight reliance when distortions were maximal. This pattern suggests reduced flexibility in updating prediction use: priors were both less accurate and more rigidly applied. Classical stimulus and response history biases were unaffected by autistic traits, highlighting a specific impairment in prediction updating. Football experts, by contrast, combined low directional updating with near-zero prediction consistency, suggesting robust mappings that resist transient perturbations. CONCLUSIONS: These findings suggest that serial dependence in dynamic tasks reflects not only prediction formation but the flexible (or rigid) deployment of those predictions in the face of changing feedback. Our results highlight a distinctive rigidity in prediction weighting, rather than a general perceptual bias, in individuals with elevated autistic traits, and reveal contrasting stabilization strategies in domain experts.
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17. Pudło M, Rymarczyk K, Starowicz A, Pisula E. Intelligence and executive functioning in adolescence: comparing autism spectrum disorder and typical development. Front Psychol. 2025; 16: 1733356.
OBJECTIVE: This study examined the relationship between intelligence and executive functions (EF) in adolescents with Autism Spectrum Disorder without intellectual disability (ASD-WID), focusing on the roles of IQ level, sex differences, and comparisons with typically developing (TD) peers matched for age and IQ. METHODS: A total of 214 participants (118 ASD, 96 TD; aged 12-18 years) were assessed with the Wisconsin Card Sorting Test (WCST) and the Color Trails Test (CTT) as measures of planning, cognitive flexibility, and attentional switching. Cognitive ability was assessed using the WISC-R or WAIS-R, yielding full-scale IQ and three cognitive factors: Verbal Comprehension, Perceptual Reasoning, and Working Memory/Resistance to Distractors. Four subgroups (ASD/TD × high/low IQ) were created. Because multiple variables deviated from normality, non-parametric statistics were applied, including Mann-Whitney U tests for group comparisons and Spearman’s rho correlations for associations between IQ indices and EF measures. RESULTS: No overall EF differences were found between the ASD and TD groups when matched for age and full-scale IQ. Within the ASD group, higher IQ was associated with better planning and cognitive flexibility on the WCST, but not with attentional switching on the CTT; the same pattern appeared in TD adolescents. High-IQ ASD and high-IQ TD adolescents performed comparably on EF measures, suggesting possible compensatory mechanisms in ASD-WID. In contrast, ASD adolescents with lower IQ showed more perseverative errors than TD peers with similar IQ. Across the entire sample (ASD + TD combined), boys scored higher in perceptual reasoning than girls; however, no sex differences were found when analyses were conducted within the ASD group alone, indicating that the observed effect of sex was driven by the TD subgroup rather than by adolescents with ASD. Perceptual reasoning and non-verbal IQ were the strongest correlates of EF performance. CONCLUSION: Intelligence-especially perceptual reasoning-plays a key role in EF outcomes in adolescents with and without ASD. High IQ may buffer EF difficulties in ASD-WID, whereas lower IQ is linked to greater executive control difficulties. These findings highlight the need for assessment and interventions tailored to individual cognitive profiles, rather than diagnostic status alone.
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18. Rosales MR, Pulido JC, Sideris J, Baranek GT, Bradley NS, Matarić M, Smith BA. Behavioral differences between infants at and not at elevated risk for autism during a contingency paradigm. PLoS One. 2026; 21(1): e0340732.
INTRODUCTION: Motor impairments have been reported in infants at elevated likelihood of autism and those later diagnosed with autism. However, empirical studies comparing higher to lower likelihood infants are lacking, limiting our understanding of these motor impairments. This study aimed to determine and describe the behavioral differences between infants at higher (HLA) versus lower likelihood (LLA) of autism during a contingency learning paradigm. METHODS: Thirty full-term infants (6-9 months of age) at HLA and LLA (n = 15 per group) participated in a contingency learning paradigm. Movements of the infant’s right leg activated an infant-sized humanoid robot to reinforce production of right leg movements. Gaze behaviors, the number of times the infants activated the robot, and evidence supporting learning were examined and compared between groups. RESULTS: Gaze and motor behavioral data suggest no discernable group differences in terms of overall looking duration, anticipatory gazes, and number of robot activations. However, four of the infants at HLA displayed visual motor patterns that were qualitatively different. CONCLUSION: Results from our study suggest that infants at HLA and LLA are using similar behaviors to learn a contingency learning task, but heterogeneity within the HLA group is noted and requires further study.
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19. Schuck RK, Chetcuti L, Dwyer P, Milosavljevic K, Bury SM, Hedley D, Begeer S, Vivanti G, Uljarevic M. Correction: Preferences for Identity-First and Person-First Language: A Systematic Review of Research with Autistic Adults/Adults with Autism. J Autism Dev Disord. 2026.
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20. Sui Y, Lin J, Noyes MD, Kwon Y, Wong I, Koundinya N, Harvey WT, Wu M, Hoekzema K, Munson KM, Garcia GH, Knuth J, Wertz J, Wang T, Hennick K, Karunakaran D, Polo Prieto RA, Meyer-Schuman R, Cherry F, Pehlivan D, Suter B, Gustafson JA, Miller DE, Berk-Rauch H, Nowakowski TJ, Chakravarti A, Zoghbi HY, Eichler EE. Using the linear references from the pangenome to discover missing autism variants. Nat Commun. 2026.
To better understand large-effect pathogenic variation associated with autism, we generated long-read sequencing (LRS) data to construct phased and near-complete genome assemblies (average contig N50 = 43 Mbp, QV = 56) for 189 individuals from 51 families with unsolved cases. We applied read- and assembly-based strategies to facilitate comprehensive characterization of de novo mutations, structural variants (SVs), and DNA methylation. Using LRS pangenome controls, we efficiently filtered >97% of common SVs exclusive to 87 offspring. We find no evidence of increased autosomal SV burden for probands when compared to unaffected siblings yet observe a suggestive trend toward an increased SV burden on the X chromosome among affected females. We establish a workflow to prioritize potential pathogenic variants by integrating autism risk genes and putative noncoding regulatory elements defined from ATAC-seq and CUT&Tag data from the developing cortex. In total, we identified three pathogenic variants in TBL1XR1, MECP2, and SYNGAP1, as well as nine candidate de novo and biallelic inherited homozygous SVs, most of which were missed by short-read sequencing. Our work highlights the potential of phased genomes to discover complex more pathogenic mutations and the power of the pangenome to restrict the focus on an increasingly smaller number of SVs for clinical evaluation.
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21. Van Vo T, Nguyen PM, Nguyen DN, Van Nguyen T, Thai DM, Ly HHV, Luu TNN. Machine Learning-Assisted Autism Risk Stratification in Toddlers Using the Vietnamese M-CHAT-R and Perinatal Predictors: A Cross-Sectional Study in Vietnam. J Autism Dev Disord. 2026.
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22. Wang X, Gao H, Cui Y, Yu J, Li G, Ju Z. Modeling the Heterogeneous Movements of ASD via Fine-Grained Skeleton Representation Learning. IEEE Trans Neural Syst Rehabil Eng. 2026; Pp.
As skeletal data can be collected non-invasively while preserving patient privacy, it is widely used in public medical datasets to document patient behavior. Autism Spectrum Disorder (ASD) is characterized by significant behavioral heterogeneity, reflected in the topological structure and dynamic evolution of skeletal movements. This complexity poses substantial challenges for skeleton-based behavioral analysis. Existing methods struggle to effectively utilize behavioral evolution for subject-specific reasoning, leading to suboptimal representations that lack diagnostic relevance for autism. To address this limitation, we propose a Behavioral Evolution-based Edge Reconstruction (BER) Strategy for learning autism-related behavioral representations. By reconstructing a high-granularity adjacency matrix that spans both spatial and temporal dimensions, utilizing dynamic evolution and spatial location information, BERGCN enhances behavioral reasoning. Specifically, we first compute channel-level spatial and temporal edge reconstruction parameters by performing feature compression and targeted convolution operations on the differences between neighboring frames. Based on these, the spatial edge reconstruction module is designed by combining a generic attention map with two personalized attention maps, while the temporal edge reconstruction module is implemented using flexible frame replace ment and weighted aggregation. Finally, we investigate both single-modal and multimodal network architectures under various fusion strategies. We evaluate BERGCN on three autism clinical tasks and a benchmark action recognition dataset. Experimental results demonstrate competitive performance, showing improved sensitivity to subject-specific behavioral patterns while maintaining computational efficiency.
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23. Xue Y, Zhang Y, Bai M, Dong H, Feng J, Jia FY. The hidden costs of screen time: altered brain network efficiency in children with autism spectrum disorder. BMC Psychiatry. 2026.