Pubmed (TSA) du 26/04/26
1. Albuquerque MAV, Dias SL, Lima KD, Kok F, Zanoteli E. Neurocognitive and autism spectrum profiles associated with dystrophin isoform disruption in childhood dystrophinopathies: insights from a Brazilian cohort. Eur J Paediatr Neurol;2026 (Apr 20);62:1-5.
AIM: To examine the association between dystrophin isoform disruption and cognitive and behavioral outcomes, including autism spectrum disorder (ASD), in a large cohort of boys with Duchenne muscular dystrophy (DMD) and related dystrophinopathies. METHOD: In this retrospective cohort study (2014-2025), 161 boys with genetically confirmed dystrophinopathy (145 DMD, 14 Becker muscular dystrophy, and 2 intermediate muscular dystrophy) were classified according to predicted involvement of the brain-expressed dystrophin isoforms Dp427, Dp140, and Dp71. Cognitive function was assessed using standardized intelligence measures (WISC-IV or WASI), complemented by comprehensive neuropsychological evaluation. ASD was diagnosed according to DSM-5 criteria and confirmed through multidisciplinary assessment. RESULTS: Intellectual disability (ID) was identified in 63 of 161 patients (39.1%), including 47 (29.1%) with mild and 16 (10.0%) with moderate ID. ASD was diagnosed in 16 patients (10%), and in 81% of cases ASD identification preceded or coincided with the diagnosis of dystrophinopathy. An isoform-dependent gradient was observed: patients with mutations restricted to exons 1-44 (Dp427-only) showed the highest frequency of normal cognition, whereas those with mutations affecting Dp140 or Dp71 exhibited progressively higher rates of ID and ASD. INTERPRETATION: Cognitive impairment and ASD are frequent non-muscular manifestations of childhood dystrophinopathies and correlate closely with disruption of brain-expressed dystrophin isoforms, particularly Dp140 and Dp71. Integrating genetic and neuropsychological assessment into routine clinical care is essential for early recognition and timely intervention.
Lien vers le texte intégral (Open Access ou abonnement)
2. Blanco-Martínez N, Carballo-Afonso R, Estévez-Agudo J, Ayán-Pérez C, Diz-Gómez JC. Physical Fitness Profiles Among Children and Adolescents With ADHD and ASD: A Comparison With Typically Developing Peers. Autism Res;2026 (Apr 26):e70261.
Children and adolescents with autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) often present physical and motor challenges that may compromise health, yet direct comparisons between these neurodevelopmental conditions and typically developing (TD) peers remain limited. This study aimed to examine the physical fitness profiles of these three groups. A total of 1537 school-aged participants were recruited from mainstream educational settings. The assessment included selected tests from the EUROFIT battery and body mass index (BMI). Composite indices of physical fitness and motor coordination were computed using age- and sex-adjusted Z-scores. Both the ADHD (n = 80) and ASD (n = 36) groups showed significantly lower cardiorespiratory fitness, balance, and upper-body coordination compared with TD peers (n = 1413). Lower-body muscular strength was reduced only in the ASD group, which also performed worse than the ADHD group. Flexibility and BMI distributions did not differ significantly across groups. Plate Tapping and Flamingo Balance test indices were markedly lower in both clinical groups relative to TD peers. Children and adolescents with ADHD and ASD had lower physical fitness than TD peers. Direct comparisons between ADHD and ASD revealed generally similar profiles, except for lower muscular strength in ASD. These findings highlight the need for early screening and tailored interventions to support healthier developmental trajectories and enhance functional outcomes in neurodevelopmental populations. Children and adolescents with autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) often experience physical and coordination difficulties compared with their typically developing peers. In this school‐based study, both groups showed lower cardiorespiratory fitness, balance, and coordination, while children with ASD also had reduced leg strength. These findings highlight the importance of early identification and school‐based physical activity programs to support health, daily functioning, and long‐term well‐being in neurodevelopmental populations. eng
Lien vers le texte intégral (Open Access ou abonnement)
3. Kuriyakose D, M G. Integrating EEG microstate dynamics in a stacked ensemble for neurodiagnostic ASD assessment. Behav Brain Res;2026 (Apr 23);509:116220.
Autism Spectrum Disorder (ASD) remains diagnostically challenging due to its neurobiological heterogeneity and the current reliance on subjective behavioral assessments. To address this, we propose a novel stacked ensemble machine learning framework that enhances EEG-based ASD classification by integrating both spatial and temporal neural features. Spatial features including spectral power, functional connectivity, and signal complexity were extracted alongside temporal features derived from microstate transitions and Hidden Markov Model (HMM)-based dynamics, capturing complementary aspects of resting-state brain activity. Using Random Forest models for both base learners and the meta-classifier, our ensemble achieved a classification accuracy of 96.3% under rigorous GroupKFold cross-validation, significantly outperforming unimodal models based on spatial (88.15%) and temporal (73.6%) features alone. Bootstrapped confidence intervals confirmed the statistical robustness and generalizability of the ensemble approach. Our framework not only improves diagnostic accuracy but also lays the groundwork for translational neurotechnology aimed at early detection, subtype differentiation, and personalized intervention strategies in ASD.
Lien vers le texte intégral (Open Access ou abonnement)
4. Low ZXB. Serotonergic psychedelics for Autism spectrum disorder: Neurobiological mechanisms and translational prospects. Prog Neuropsychopharmacol Biol Psychiatry;2026 (Apr 23):111717.
Autism Spectrum Disorder (ASD) is characterized by persistent social-communication deficits, cognitive rigidity, and atypical sensory processing. Current pharmacological treatments, including risperidone and aripiprazole, provide only limited symptomatic relief and do not address the underlying neurobiological mechanisms. Converging evidence implicates dysregulated serotonergic signaling, impaired neuroplasticity, and chronic neuroimmune activation as central features of ASD pathophysiology. Serotonergic psychedelics, such as psilocybin and LSD, act as high-affinity 5-HT(2A) receptor agonists and have re-emerged as candidates for modulating these core pathways. In this Review, we synthesize molecular, cellular, and systems-level findings suggesting that psychedelics may transiently relax overly rigid cortical priors, reopen critical periods for social learning, and recalibrate dysfunctional neural circuits in ASD. These compounds enhance synaptic plasticity via BDNF and mTOR signaling, modulate cortical oscillations, and suppress neuroinflammation by shifting microglial phenotypes and suppressing pro-inflammatory cytokines. Systems-level frameworks, including the REBUS and anarchic brain hypotheses, contextualize how psychedelics induce globally integrated, less constrained brain states that may counteract the hyper-segregated connectivity commonly observed in ASD. While preclinical and early human studies report improvements in sociability, sensory responsiveness, and behavioural flexibility, rigorous clinical trials are urgently needed to establish safety, efficacy, and optimal developmental windows for intervention. We conclude by outlining a translational roadmap to guide future research, emphasizing the need for structured integration with behavioural therapies, attention to ASD heterogeneity, ethical considerations, and the potential to shift ASD treatment beyond symptomatic management toward disease-modifying intervention.
Lien vers le texte intégral (Open Access ou abonnement)
5. Maffioli E, Errico F, Motta Z, di Vito R, Grana J, De Grandis E, Boeri S, Bruno C, Riccio MP, Iasevoli F, Di Maio M, Nuzzo T, Bravaccio C, Bagnasco S, Gelzo M, Castaldo G, de Bartolomeis A, Negri A, Pollegioni L, Tedeschi G, Usiello A. Blood levels of D-aspartate oxidase, D-amino acid oxidase, serine racemase, and pLG72 are influenced by diagnoses of schizophrenia and autism spectrum disorder. Schizophrenia (Heidelb);2026 (Apr 25)
Free D-serine (D-Ser) and D-aspartate (D-Asp) are increasingly recognized as key modulators of glutamatergic NMDA receptor-dependent neurotransmission, whose dysfunction has been implicated in neuropsychiatric conditions, including schizophrenia (SCZ) and autism spectrum disorder (ASD). The metabolism of these D-amino acids is tightly regulated by specific enzymes: serine racemase (SR) for D-Ser synthesis and degradation, and D-amino acid oxidase (DAAO) and D-aspartate oxidase (DASPO) for D-Ser and D-Asp degradation, respectively. The primate-specific protein pLG72 further modulates the activity of DAAO and DASPO. In this multicenter study, we employed a mass spectrometry (MS)-based approach to quantify SR, DAAO, DASPO, and pLG72 levels in serum samples from SCZ and ASD patients, along with matched non-psychiatric controls. Enzymatic activity and D-amino acid serum concentrations were also assessed. We identified distinct, disorder-specific alterations in these proteins. In SCZ patients, SR protein levels were elevated despite unchanged activity, while DAAO and pLG72 levels were decreased. Conversely, increased DASPO levels were associated with reduced D-Asp, indicating enhanced catabolism of this endogenous NMDA receptor ligand in SCZ. ASD patients exhibited elevated DAAO and DASPO, with reduced SR levels. Notably, positive correlations between pLG72 and both DAAO and DASPO flavoenzymes were observed in both disorders. These findings highlight the potential of D-amino acid metabolism-related enzymes as biomarkers for SCZ and ASD and provide new insights for future diagnostic and mechanistic investigations in neurodevelopmental disorders.
Lien vers le texte intégral (Open Access ou abonnement)
6. Moreno RJ, Ashwood P. Regulatory T cells dysregulation in neurodevelopment: An underlying mechanism in the pathophysiology of autism. Brain Behav Immun;2026 (Apr 26):106786.
Lien vers le texte intégral (Open Access ou abonnement)
7. Pulatov O, Barros R. A name absent from the curriculum: Grunya Sukhareva, triple erasure, and the unfinished history of autism. Eur Child Adolesc Psychiatry;2026 (Apr 25)
Lien vers le texte intégral (Open Access ou abonnement)
8. Sušienková P, Szabó J, Filo J, Borbélyová V, Ostatníková D, Celec P, Renczés E. Neonatal testosterone exposure modulates exploration and object avoidance without exacerbating autism-like behavior in Shank3b-deficient mice. Horm Behav;2026 (Apr 24);181:105935.
A rapid increase in autism spectrum disorder (ASD) prevalence, high heritability, and higher incidence in boys suggest a role of gene-environment interactions, likely involving sex hormones in its etiology. Prenatal exposure to high testosterone concentration has been linked to risk of ASD, however, experimental proof in genetically predisposed animals is lacking. Since neonatal development in mice mirrors late prenatal neurodevelopment in humans, we investigated the effects of neonatal testosterone administration on the behavior of female and male Shank3b((-/-)) mice. On postnatal day 1, neonate Shank3b((-/-)) and wild-type pups of both sexes received a single dose of testosterone (1 mg) or vehicle subcutaneously. Behavioral phenotyping of mice was conducted in adolescence and adulthood. ASD-like behavior was unaffected by the combination of neonatal exposure to testosterone, male sex, and Shank3b deficiency in both adolescence and adulthood. In adolescence, testosterone-treated mice showed 32% higher object-avoidance behavior in comparison to control mice. Shank3b((-/-)) mice spent threefold longer time self-grooming, buried half as many marbles, and vertically explored 23% less than wild-type mice. In adulthood, neonatal exposure to testosterone reduced vertical exploration by 34% and locomotor activity by 15%. Shank3b((-/-)) mice self-groomed threefold longer, buried 31% fewer marbles, and spent 37% less time by vertical exploration than wild-type mice. Neonatal exposure to testosterone seems to affect object avoidance and exploration, rather than ASD-like behavior. Early testosterone exposure or its synergistic effects with sex and genetic predisposition on the ASD-like phenotype later in life seem to be limited.
Lien vers le texte intégral (Open Access ou abonnement)
9. Thomas KS, Cooper K, Jones CRG. The Role of Self-Concept Clarity in the Relations Between Disordered Eating, Gender Diversity, and Autistic and ADHD Traits. Arch Sex Behav;2026 (Apr 25)
Self-concept clarity, the degree to which an individual has a well-defined and stable sense of self, is a well-documented factor in mental health conditions, particularly eating disorders. Difficulties with self-concept clarity are also reported among gender diverse and neurodivergent people, who are overrepresented in eating disorder populations. This cross-sectional study examined associations between self-concept clarity (Self-Concept Clarity Scale), autistic traits (Autism Spectrum Quotient), ADHD traits (Adult ADHD Self-Report Scale), gender diversity (Gender Self-Report), and disordered eating, a pattern of atypical eating behaviors and attitudes including food restriction and binge eating (Eating Disorder Examination Questionnaire). Gender diversity was assessed as binary (identity opposite to sex assigned at birth) and nonbinary traits (identity neither female nor male). Participants were 492 UK adults (324 assigned female at birth; 98.6% cisgender, 1.2% trans/gender diverse, 0.2% preferred not to say; M age = 41.44 years, SD = 13.11) recruited online. Correlational and path analysis investigated direct and indirect relations between gender diversity, neurodivergent traits, and disordered eating through self-concept clarity. Autistic traits were indirectly related to disordered eating through self-concept clarity, while ADHD traits showed both direct and indirect associations. Greater binary and nonbinary gender diverse traits were correlated with higher levels of disordered eating but were no longer significantly related once neurodivergent traits, age, and sex assigned at birth were controlled. Findings suggest low self-concept clarity may provide a mechanism for increased disordered eating in individuals with higher levels of neurodivergent traits, but not among those with gender diverse traits when covariates are considered.
Lien vers le texte intégral (Open Access ou abonnement)
10. Wang L, Li H, Yang Y, Zhang B, Yu B. Genetic variants identification through whole-genome sequencing based on dried blood spots in 92 Chinese children with Autism. Hum Genomics;2026 (Apr 26)
Lien vers le texte intégral (Open Access ou abonnement)
11. Yurkovic-Harding J, Narayanan V, Bradshaw J. Social Behavior Forecasts Moment-to-Moment Changes in RSA in Infants With Autism. Dev Sci;2026 (May);29(3):e70196.
Respiratory sinus arrhythmia (RSA), an index of physiological regulation, increases during infancy, and is associated with concurrent and later social abilities. However, little is known about the moment-by-moment, bidirectional dynamics of RSA and social behaviors. This is particularly relevant to autism spectrum disorder (ASD), in which altered RSA may underly social deficits. The current study investigated the dynamic relationship between RSA and social behaviors in very young infants with and without ASD. Infants (N = 74) at elevated (EL) or low (LL) familial likelihood for ASD who were later classified as typically developing (TD) or having ASD were included in analyses. These infants completed a dyadic, face-to-face interaction with their caregivers at 3, 4, and 6-months. Infant social behaviors (looking and smiling) and RSA during the interaction were quantified. Granger causality analyses determined if RSA significantly « forecasted » social behaviors and vice versa. Social behavior, especially looking to the caregiver, significantly forecasted moment-to-moment changes RSA in more infants than the converse. Smiles forecasted RSA in more EL infants than LL infants. Looks forecasted RSA in more infants with ASD than TD infants. We found a bidirectional relationship between RSA and social behavior, with social behavior more often forecasting RSA. Infants later diagnosed with ASD showed a greater likelihood for social attention to forecast RSA than TD infants, suggesting early differences in dynamic behavior-physiology processes. Additionally, EL infants showed a greater likelihood for smiling to forecast RSA than LL infants, suggesting that ASD likelihood may influence early physiological and social dynamics, regardless of outcome. SUMMARY: We explored the dynamic and bidirectional relationship between social behavior and respiratory sinus arrhythmia (RSA) in infants with and without autism spectrum disorder (ASD). Infant social behavior, especially looking to the parent, significantly forecasted moment-to-moment changes in RSA in more infants than the converse. Smiles forecasted RSA in more infants at elevated than low likelihood for ASD, suggesting that ASD likelihood may influence early physiological and social dynamics. Looks forecasted RSA in more infants with ASD than TD infants, suggesting early differences in dynamic behavior-physiology processes.