1. Autism intervention meta-analysis of early childhood studies (Project AIM): updated systematic review and secondary analysis. Bmj;2026 (May 11);393:s887.

Lien vers le texte intégral (Open Access ou abonnement)

2. Achilly NP, Wang W, Zoghbi HY. Publisher Correction: Presymptomatic training mitigates functional deficits in a mouse model of Rett syndrome. Nature;2026 (May 11)

Lien vers le texte intégral (Open Access ou abonnement)

3. Arif S, Bibi H. Methodological Considerations and Evidence Interpretation in the Phase III Evaluation of the Absnow Biodegradable ASD Occluder. Clin Cardiol;2026 (May);49(5):e70319.

Lien vers le texte intégral (Open Access ou abonnement)

4. Armstrong B, Arunachalam S, Nehilla L, Luyster R. Quantifying Question Asking in Young Autistic Children: Exploring the Role of Context. Semin Speech Lang;2026 (May 11)

Questions are an important component of social communication. Autistic children experience difficulties in social communication, and question asking is a common target of services. We know little about how context shapes question asking in autistic children. The current study quantifies the frequency (rate per minute), form (wh-, yes/no, intonation), and function (information-seeking, directive, initiation/maintenance) of questions produced by autistic children (n = 15; mean age = 5.6 years) in two social contexts: a semi-structured activity (the « tablet task ») and unstructured play (a naturalistic play session). Autistic children asked slightly more questions in the play session (M =1.35 questions/minute) than in the tablet task (M = 0.81 questions/minute), but there was no significant difference between conditions (effect size = 0.36). For question form, children asked wh-questions at similar rates across contexts, but they asked significantly more yes/no and intonation questions in the play session (effect sizes = 0.01, 0.62, 0.85, respectively). Finally, in function, children’s use of information-seeking questions was similar across contexts, but they used significantly more directive and initiation/maintenance questions in the play session (effect sizes = 0.008, 0.82, 0.80, respectively). These findings offer important considerations for the assessment of question asking in autistic children.

Lien vers le texte intégral (Open Access ou abonnement)

5. Bai QQ, Chen J, Dong LL, Jin ML, Hu BK, Gan Y, You CY, Hui J. Multi-strain Bacillus Probiotics has Advantages in Improving Abnormal Behavior and Intestinal Flora in Rats of Autism Spectrum Disorder. Curr Microbiol;2026 (May 11);83(7)

Autism spectrum disorder (ASD) is a common childhood neurodevelopmental disorder. While many medicines offer therapeutic benefits, they are often associated with adverse side effects. Probiotics, however, present a safer interventional strategy. In this study, we investigated the effects of three probiotic agents: a multi-strain Bacillus formulation, a multi-strain Lactobacillus formulation, and the yeast Saccharomyces boulardii, in a rat model of ASD. The study included a total of 6 groups: a control group with no treatment, an ASD model group induced by valproate (VPA), and three probiotic intervention groups. The results showed that multi-strain Bacillus probiotics treatment was the most significant in alleviating VPA-induced autism in rats. Multi-strain Bacillus probiotics supplementation exerted a significant effect on stereotypic behaviors in ASD rats. Further studies found that multi-strain Bacillus probiotics alleviated ASD symptoms by reducing gut inflammation, optimizing gut microbiota composition and regulating short-chain fatty acid levels. Overall, the study evidence suggested that multi-strain Bacillus probiotics was the most effective for the treatment of VPA-induced ASD rat model.

Lien vers le texte intégral (Open Access ou abonnement)

6. Borgonovo G, Tiberi A, Capsoni S, Cattaneo A. Toward an NGF-based therapy for Rett syndrome. Front Neurosci;2026;20:1800227.

Rett syndrome (RTT) is a severe neurodevelopmental disorder primarily caused by mutations in the MECP2 gene. Although recent therapeutic advances, such as the approval of Trofinetide, offer partial relief, no comprehensive curative treatment is currently available. Among the emerging strategies, nerve growth factor (NGF) has gained attention due to its neurotrophic and immunomodulatory properties. This review, in addition to discussing the key features of RTT and the role of growth factors, also highlights recent evidence supporting NGF-based strategies for RTT, focusing on two independent studies that tested intranasal administration of NGF-like molecules in Mecp2-mutant mice. Both recombinant human NGF (rhNGF) and a modified, « painless » variant (hNGFp) improved behavioral (cognitive and motor) symptoms. While rhNGF primarily restored mitochondrial function, hNGFp restored neuroinflammatory responses through microglial regulation. Despite differences in molecular mechanisms and dosages, both molecules demonstrated efficacy without adverse effects, especially when administered intranasally, preventively, and over longer periods. These findings suggest that NGF may act through dual mechanisms, by supporting energy homeostasis and regulating immune responses. The use of intranasal delivery further enhances translational potential by overcoming blood-brain barrier limitations. Together, these studies provide a strong rationale for pursuing NGF-based therapies in RTT and encourage further investigations to optimize dosing, timing, and safety in preclinical and clinical settings.

Lien vers le texte intégral (Open Access ou abonnement)

7. Clarey MM, Ireland MJ, Abel S, Brownlow C. Beyond Exhaustion: Shame, Identity Disruption, and Functional Collapse in Autistic Burnout. Autism;2026 (May 11):13623613261444797.

Autistic burnout is typically defined as chronic exhaustion with functional impacts on everyday life. It appears common across work, study, and relationships, yet its emotional and relational dimensions remain underexamined. To document lived experiences of autistic burnout among autistic adults and to identify emotional and relational processes (e.g. shame and masking) that may shape onset, maintenance, and recovery. Eleven autistic adults participated in semi-structured interviews or written responses conducted online between July 2023 and November 2024. Data were analysed using template analysis, combining a priori codes from prior research with inductive coding. Participants described profound exhaustion, sensory overload, and executive dysfunction that disrupted daily life. A prominent emergent theme was shame, which shaped interpretations of functional limits, masking efforts, and help-seeking. Many reported dual-masking, concealing both autistic traits and signs of burnout, which intensified strain, delayed recognition, and undermined recovery. Withdrawal and « gentle re-engagement » through low-demand, people-adjacent activities were described as recovery strategies. Autistic burnout involves physical and cognitive challenges alongside relational and emotional processes that can precipitate and sustain it and complicate recovery. Shame and masking shape how burnout is interpreted and disclosed, underscoring the need for shame-aware, low-demand supports.Lay AbstractAutistic burnout is a period of overwhelming exhaustion and reduced ability to cope with everyday life. Although autistic people have spoken about burnout for many years, there is still little research describing what it actually feels like. In this study, 11 autistic adults shared their experiences of burnout through online interviews or written responses. We analysed their words to look for common patterns and individual differences. Participants described extreme tiredness, difficulty starting and completing everyday tasks, and increased sensitivity to noise, light, or smells. Many withdrew from friends, family, or work to protect their limited energy. A key pattern was shame, feeling embarrassed, inadequate, or like a burden, which shaped how people made sense of their burnout and whether they felt able to ask for help. Several described « dual-masking, » meaning they hid both their autistic traits and the signs of burnout itself. This added pressure often made burnout last longer and delayed access to support. Recovery was often slow. Gentle steps, such as spending quiet time near others without having to talk (« people-adjacent » activities), helped them reconnect without pressure. These findings suggest that supportive environments, where autistic people feel safe to be themselves, may reduce the impact and length of burnout episodes.

Lien vers le texte intégral (Open Access ou abonnement)

8. da Cruz Brandão MC, da Silva Araújo MA, Toscano AE. Beyond a single predictor: Is there a synergistic effect of autistic and attention-deficit/hyperactivity disorder traits on creativity? Commentary on Taylor et al. (2025). J Psychopathol Clin Sci;2026 (May 11)

This commentary proposes that the heightened creativity often observed in neurodivergent populations may emerge from a unique synergy between autistic and attention-deficit/hyperactivity disorder traits rather than being driven by attention-deficit/hyperactivity disorder alone. We suggest that future research should directly compare comorbid groups against those with single-diagnosis profiles to better understand how these distinct cognitive styles interact to produce creative outcomes. (PsycInfo Database Record (c) 2026 APA, all rights reserved).

Lien vers le texte intégral (Open Access ou abonnement)

9. Gallo A, Sabes JH, Demopoulos C. Auditory processing and communication in autism: exploring verbal abilities and vocal affective cues. Front Psychiatry;2026;17:1754358.

This study examined the role of auditory processing in autism spectrum disorder, focusing on its association with verbal and non-verbal vocal communication skills in children and adolescents. A total of 97 English-speaking autistic participants (ages 7.9-17.4 years, mean = 12.3) and 44 neurotypical peers (ages 8.4-16.8, mean= 12.3) completed assessments of auditory processing and communication skills. We analyzed the relationships between scores on the SCAN-3 Tests for Auditory Processing Disorders time-compressed sentences, auditory figure-ground (+ 8dB), gap detection, and competing words-free recall subtests, the Clinical Evaluation of Language Fundamentals-Fifth Edition (CELF-5) expressive and receptive language indices, the Goldman-Fristoe Test of Articulation-3rd Edition (GFTA-3) Sounds-In-Words subtest, and the Diagnostic Analysis of Nonverbal Accuracy-2nd Edition (DANVA-2) paralanguage subtests. Measures of auditory processing were associated with both verbal and non-verbal communication skills in the autistic participants. Specifically, we found that SCAN-3 time-compressed sentence and gap detection scores were associated with expressive and receptive language skills, receptive vocabulary scores, and ability to recognize vocal emotional cues. Gap detection abilities additionally correlated positively with expressive and receptive language skills, while auditory figure-ground task performance was related to articulation. In conclusion, this study suggests specific aspects of auditory processing may be important for development of specific aspects of auditory communication skills in children on the spectrum. Specifically, spectral aspects of auditory processing abilities were associated with articulation accuracy whereas temporal components of auditory processing may impact broader verbal and nonverbal communication skills. Further research is needed to better understand the underlying mechanisms of these associations and potential directions of causality to inform development of interventions that target auditory processing and auditory communication skills in ASD.

Lien vers le texte intégral (Open Access ou abonnement)

10. Gellert BM, Raczkiewicz D, Religioni U, Pinkas J, Ostrowski J. Evaluating physician knowledge of autism spectrum disorder: addressing diagnostic challenges, comorbidities, and the need for targeted education. Arch Med Sci;2026 (Jan);22(1):241-249.

INTRODUCTION: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with diverse symptoms and frequent comorbidities, posing diagnostic challenges. Despite advances in ASD awareness and diagnostic methods, significant knowledge gaps persist among healthcare professionals. This study assessed physicians’ knowledge of ASD, focusing on symptoms, comorbidities, and diagnostic challenges to enhance patient care. MATERIAL AND METHODS: This study, conducted in 2024, involved physicians attending courses at the Center of Postgraduate Medical Education in Warsaw (CMKP). Participation was anonymous and voluntary. Respondents completed the author’s own questionnaire and the Knowledge about Childhood Autism among Health Workers (KCAHW) questionnaire to assess autism knowledge across four domains: social interaction impairments, communication issues, obsessive behaviors, and disorder onset and comorbidities. Physicians also provided professional and demographic data. RESULTS: The study included 395 physicians, primarily young (mean age: 31), female (75%), and in early career stages, with most having up to 5 years of experience. While 75% had some contact with individuals on the autism spectrum, only 28% had close family or acquaintances with ASD. Knowledge about autism was moderate, averaging 74% correct responses, with higher accuracy in recognizing social interaction impairments (80%) and repetitive behaviors (78.5%), but lower accuracy regarding comorbidities (63%). Younger, less experienced physicians, women, and those with personal ASD contact had higher knowledge about autism. CONCLUSIONS: The study highlights the need for targeted ASD education to address specific knowledge gaps among healthcare professionals, essential for providing informed and compassionate care.

Lien vers le texte intégral (Open Access ou abonnement)

11. Hampson CL, Peraza JA, Guerrero LM, Bottenhorn KL, Riedel MC, Almuquin F, Smith DD, Schmarder KM, Crooks KE, Sangoi JA, Keller KR, Pintos Lobo R, Sutherland MT, Musser ED, Dai Y, Agarwal R, Saeed F, Laird AR. Habenula alterations in resting state functional connectivity among autistic individuals. Biol Psychiatry Cogn Neurosci Neuroimaging;2026 (May 11)

BACKGROUND: The reward-based theoretical framework of autism suggests that altered reward circuitry contributes to core symptoms. Recent prior research has revealed autism-related structural alterations in the habenula, a small epithalamic structure associated with motivation and emotion; however, potential alterations in functional connectivity (FC) remain unexplored. METHODS: Anatomical and resting state functional magnetic resonance imaging (rs-fMRI) data were accessed for 1,479 participants (N=661 autism; age(m): 16.68±8.23 years) in the Autism Brain Imaging Data Exchange (ABIDE). To investigate habenula alterations, we conducted a whole-brain resting state FC analysis using manually delineated subject-specific seeds, followed by regression analyses to explore age and brain-behavior interactions. RESULTS: Across the entire sample, extensive habenula connectivity was observed within the midbrain dopaminergic reward system. Compared to neurotypical (NT) controls, autistic participants exhibited significantly increased habenular connectivity with the bilateral middle and superior temporal gyri. From childhood to early adulthood, autistic adolescents displayed an accelerated developmental habenula FC trajectory than NTs with the cingulate gyrus. Between groups, habenula hyperconnectivity was inversely associated with behavioral scores for social motivation and communication. CONCLUSIONS: This study provides novel evidence of habenula connectivity alterations in autism, highlighting atypical FC with sensory processing regions. Further findings suggest that habenula circuitry develops differently among autistic adolescents, with links between habenula hyperconnectivity and social behaviors. Taken together, these results contribute to emerging evidence that the dopaminergic reward system may play a critical role in the pathophysiology of autism.

Lien vers le texte intégral (Open Access ou abonnement)

12. He X, Liu M. Roles of cytoskeleton-associated genes in radial migration and ASD during mouse neocortex development. Prog Neuropsychopharmacol Biol Psychiatry;2026 (May 11):111743.

In mammals, the neocortex consists of six distinct neuronal layers, each with specialized morphology and functions. Neuronal migration plays a pivotal role in the development of functional neural circuits. The migrating neurons primarily include excitatory and inhibitory types, with most excitatory neurons migrating radially to their target cortical regions. This migration process is tightly regulated by a variety of signaling molecules both intracellularly and extracellularly. Disruptions at any stage can result in abnormal migration, often leading to neuropsychiatric disorders such as autism spectrum disorder (ASD), schizophrenia and epilepsy. This review provides an overview of the regulation of microfilaments (actin filaments) and microtubules during the radial migration of excitatory neurons, highlighting the role of cytoskeleton-associated genes in shaping neuronal morphology and migratory ability. Additionally, the involvement of ASD-associated risk genes in radial migration is discussed.

Lien vers le texte intégral (Open Access ou abonnement)

13. Jabbar A, Jianjun H, Jabbar MK, Ur Rehman K, Bilal A. Retraction Note: Spectral feature modeling with graph signal processing for brain connectivity in autism spectrum disorder. Sci Rep;2026 (May 11);16(1)

Lien vers le texte intégral (Open Access ou abonnement)

14. Kang J, Zhang L, Yang X, Li X, Fan X, Zheng S. Identification of Children With Autism Spectrum Disorder Based on Multidimensional EEG Feature Fusion Across Temporal-Spectral-Spatial Domains. Alpha Psychiatry;2026 (Apr);27(2):45250.

BACKGROUND: To better characterize the complex neural features of autism spectrum disorder (ASD) and overcome the limitations of traditional electroencephalography (EEG) analysis methods, we developed a multi-metric EEG framework integrating temporal, spectral, and spatial dimensions, systematically characterized the dynamics, individualization, and nonlinear network features of neural oscillations in ASD, and evaluated their classification performance. METHODS: Children with ASD (n = 44) and typically developing (TD) children (n = 44) were recruited and resting-state EEG data were collected. The analysis was conducted from three perspectives: (1) temporal domain – Lempel-Ziv complexity (LZC) was used to quantify the dynamic complexity of signals; (2) frequency domain – the gedBounds method based on generalized eigen decomposition (GED) was applied to identify individualized frequency bands; (3) spatial domain – Generalized Symbolic Nonlinear Granger Causality (GSNGC) was used to construct brain functional networks and compute graph-theoretic metrics. Finally, a support vector machine (SVM) integrated multidimensional features for ASD classification. RESULTS: In the temporal domain, the ASD group showed significantly lower whole-brain LZC compared with the TD group, with the most pronounced reduction observed in the alpha band, suggesting reduced neural dynamic information processing capacity. In the frequency domain, the ASD group showed an expanded theta bandwidth, reduced low-frequency power in central-occipital regions, and increased beta power in frontal regions. In the spatial domain, children with ASD exhibited an atypical connectivity pattern characterized by increased low-frequency connectivity, reduced alpha-band connectivity, and increased beta-band connectivity, along with significantly higher global efficiency in theta and beta networks. The SVM model integrating temporal, frequency, and spatial features achieved an accuracy of 89.2%, significantly outperforming single-domain feature models, confirming that multidimensional feature integration improves classification performance. CONCLUSIONS: This study introduces a novel analytical approach combining individualized frequency band identification, nonlinear connectivity modeling, and dynamic complexity analysis. The findings comprehensively reveal multi-scale abnormalities of neural oscillations in children with ASD and demonstrate the discriminative power of multi-dimensional EEG feature integration for ASD classification and auxiliary diagnosis, thereby providing a scientific basis for clinical diagnosis and intervention. CLINICAL TRIAL REGISTRATION: No: ChiCTR2400092790. 24 November, 2024, https://www.chictr.org.cn/showproj.html?proj=249950.

Lien vers le texte intégral (Open Access ou abonnement)

15. Lee MR, Lee Y, Chang YH, Lee Y. Foodservice management and nutrition education status and needs for individuals with developmental disabilities in welfare facilities in Seoul and Gyeonggi, Korea: a cross-sectional study. Korean J Community Nutr;2026 (Apr);31(2):192-204.

OBJECTIVES: This study aimed to examine the current status of foodservice management and nutrition education practices, and the needs for individuals with developmental disabilities in welfare centers in Seoul and Gyeonggi, South Korea, and to compare the differences according to dietitians’ level of understanding of developmental disabilities. METHODS: A cross-sectional survey was conducted among dietitians working at 65 welfare centers, and data from 45 centers were analyzed. The questionnaire assessed general characteristics, foodservice operations, nutrition education practices, perceived needs, and the understanding of developmental disabilities. Participants were classified into high- (n = 17) and low-understanding (n = 28) groups based on their self-rated understanding of developmental disabilities. Data were analyzed using IBM SPSS Statistics 29.0 (IBM Corp.). RESULTS: All centers provided one daily meal (lunch), with one cook serving an average of 116 individuals. Only 11.1% of centers implemented nutrition education, primarily limited due to insufficient time and low expectations regarding the effectiveness of nutrition education. Overall, no significant differences were observed between the two groups in most aspects of foodservice management and nutrition education practices, although some specific items showed significant differences. The high-understanding group reported a significantly greater perceived need for nutrition education and placed higher importance on rapport-building and situational response skills. These findings suggest that structural constraints, including staffing, budget, and limited resources, may play a greater role than individual- level understanding in shaping foodservice and nutrition education practices. CONCLUSION: Welfare centers showed limited capacity to provide tailored foodservice and systematic nutrition education for adults with developmental disabilities. Strengthening staffing standards, improving foodservice environments, and developing standardized educational materials that consider communication levels are necessary. Moreover, expanding professional training opportunities for dietitians and establishing institutional support systems are essential to enhance sustainable nutrition education practices.

Lien vers le texte intégral (Open Access ou abonnement)

16. Luthra S, Gopal N, Dahake U, Amle D, John JE, Takhelmayum R, Haldar U, Jose J, Kirubhanand C. Serum fetuin A and cystatin B as biomarkers among autism spectrum disorder patients in central India. Bioinformation;2026;22(2):733-738.

Autism Spectrum Disorder (ASD) remains underdiagnosed in low- and middle-income countries due to reliance on subjective behavioural assessments and lack of validated objective biomarkers for early detection. Therefore, it is of interest to investigate the potential of two serum biomarkers, Fetuin-A and Cystatin B, as objective diagnostic indicators for ASD in 60 children from Central India (30 with ASD, 30 controls). While Fetuin-A showed a non-significant trend of elevation in the ASD group, Cystatin B levels were found to be significantly elevated in the ASD subjects compared to the neurotypical controls. ROC analysis demonstrated moderate diagnostic potential for both, with Cystatin B showing a higher Area under the Curve (AUC) of 69.5%. Thus, Cystatin B is a promising serum biomarker that could supplement current diagnostic tools for the early and accurate identification of ASD.

Lien vers le texte intégral (Open Access ou abonnement)

17. Morrison G, Dwight S, Landy H, Mueller WF, Ventola P, Deck R, Schweighardt B, Wilsey M, Lee KJ, Suter B. Natural history of NGLY1 deficiency: motor function & clinical features. Hum Mol Genet;2026 (May 11);35(8)

N-glycanase 1 (NGLY1) Deficiency is an ultra-rare neurodevelopmental disorder caused by biallelic loss-of-function mutations in the NGLY1 gene, leading to severe impairments in neurocognitive and motor function abilities in the affected patient population. Its core clinical features include global developmental delay, hyperkinetic movement disorders, elevation of liver transaminases, (hypo)alacrima, and progressive sensorimotor neuropathy. Due to the range of phenotypes and severity within the confirmed patient population, ongoing characterization of the disease is critical. A prospective natural history study (NHS) was conducted to further elucidate disease phenotypes and examine any changes in neurocognitive or motor function over a one-year period. Fifteen participants, representing roughly 10% of the total identified patient population, were enrolled to complete three onsite visits. Participants in this study exhibited phenotypes previously reported, including core disease phenotypes, hypotonia, scoliosis, musculoskeletal abnormalities, abnormal electroencephalogram (EEG) results, and visual and genitourinary abnormalities. Results from validated neurocognitive and motor function assessments revealed profound global developmental delays in all participants, including communication, gross and fine motor function, and cognitive domains. Age-equivalent scores identified a widening developmental gap between participants and neurotypical peers over time, indicating delayed milestone achievement and/or regression. Although fluctuations were observed, measurements for individual participants were mostly stable over the course of the NHS. Liver transaminase and biomarker N-acetylglucosamine-asparagine (GlcNAc-Asn; GNA) levels were elevated in all participants. Results build on previous studies and inform the selection of potential endpoints for emerging interventional clinical trials, including laboratory values, neurocognitive and motor function assessments, and caregiver reported outcomes.

Lien vers le texte intégral (Open Access ou abonnement)

18. Özcan Ö, Çevreli B, Kamali M, Ergüzel TT. Heterogeneous neurocognitive signatures in early childhood autism: a combined analysis of pharmacological treatment and gender. BMC Psychol;2026 (May 11)

PURPOSE: Autism spectrum disorder (ASD) is characterized by marked heterogeneity in sensory processing, self-regulation, and executive functioning during early childhood. Pharmacological treatments are widely used to manage behavioral symptoms; however, their role in shaping multidomain neurocognitive profiles remains unclear. This study aimed to determine whether neurocognitive profiles differ as a function of pharmacological treatment type (antipsychotic, ADHD medication, or no medication) and gender children with ASD in early childhood. METHODS: This cross-sectional study included 350 children aged 4-6 years diagnosed with ASD. Participants were stratified into three groups based on current pharmacological treatment: antipsychotic-treated (n = 115), ADHD-medicated (n = 110), and medication-free (n = 125), with balanced gender distribution. Parents completed the Parent-Rated Sensory Reactivity Scale (ESRS), the Self-Regulation Skills Scale-Parent Form (SRSS-P), and the Childhood Executive Functioning Inventory-Parent Form (CEFI-P). Autism severity was assessed using the Childhood Autism Rating Scale (CARS). Group differences were examined using ANOVA, followed by correlation and multiple regression analyses. RESULTS: Neurocognitive profiles differed significantly across pharmacological treatment groups (p < 0.01). Children receiving antipsychotic medication exhibited higher sensory reactivity and greater autism severity, whereas those receiving ADHD medication showed greater impairments in executive functioning and self-regulation. Medication-free children consistently demonstrated the lowest levels of impairment. Gender showed a limited moderating effect, with some domain-specific differences observed across treatment groups. Correlation and regression analyses indicated that pharmacological treatment and gender were associated with variability in neurocognitive domains and overall autism severity (R² = 0.46). CONCLUSIONS: Pharmacological treatment type and gender are important factors associated with heterogeneity in neurocognitive profiles in early childhood (4-6 years) ASD. These findings suggest that medication-related differences extend beyond behavioral symptom control and are linked to distinct sensory, regulatory, and executive functioning patterns. Clinically, this highlights the importance of considering treatment type and gender when interpreting neurodevelopmental profiles and when planning individualized, multidomain interventions.

Lien vers le texte intégral (Open Access ou abonnement)

19. Prange EO, Fleysh D, Reddy K, Dubbs H, Marsh ED. Clinical experience using trofinetide in Rett syndrome and related MECP2 diagnosis at the children’s hospital of Philadelphia post approval. Front Neurol;2026;17:1776146.

INTRODUCTION: Rett syndrome (RTT) is a rare neurodevelopmental disorder primarily caused by pathogenic variants in the MECP2 gene. Trofinetide (Daybue) became the first FDA-approved medication for RTT in March 2023. This study evaluates the real-world effectiveness and side effect profile of Trofinetide in 55 individuals (50 females, 5 males) with RTT or MECP2-related neurodevelopmental disorders over a 12-month period. METHODS: Data was collected through clinic assessments and caregiver reports. RESULTS: Results demonstrated that 75.9% of individuals experienced some improvement in RTT symptoms by caregiver report, particularly in engagement, communication, and motor skills. The side effect profile was better than the phase 3 trials with only 48.1% reporting diarrhea and 16.7% experiencing vomiting. DISCUSSION: Overall, the findings support the effectiveness of trofinetide in the RTT population and suggests potential effectiveness in the broader MECP2 population including males and those with atypical presentations. The data highlights the need for further work to determine long-term benefits in the full spectrum of MECP2 related disorders. Finally, the study highlights the importance of titration, individualized dosing and side effect management to improve retention and outcomes.

Lien vers le texte intégral (Open Access ou abonnement)

20. Srinivasan H, Cascio CJ, Wallace MT. Prediction Gone Awry: A Computational Framework for Emotion Dysregulation Across Autism and Attention-Deficit/Hyperactivity Disorder. J Child Adolesc Psychopharmacol;2026 (May 11):10445463261448490.

Emotion dysregulation is a common issue across childhood and adolescence, including in autism and attention-deficit/hyperactivity disorder (ADHD). Yet most accounts remain descriptive-focusing on irritability, rapid escalation, slow return to baseline-without specifying the computational processes that stabilize emotions in context. We propose a predictive-coding account in which emotion regulation depends on how the brain predicts bodily and environmental signals, detects mismatches, between expectation and sensation, and determines how much confidence to assign those mismatches. Within this framework, dysregulation can arise when prediction errors are assigned excessive precision (i.e., incoming signals are overweighted relative to prior expectations, making them feel « too loud »), amplifying emotional reactivity or when prior expectations update too slowly (feelings get « stuck »), prolonging emotional states beyond contextual demands. We hypothesize that autism may involve heightened confidence assigned to surprising inputs together with sluggish updating of expectations, a combination that can produce both reactivity and emotional inertia. ADHD, by contrast, may be characterized by weaker expectations and unstable gain control, meaning the system’s amplification of incoming signals fluctuates from moment to moment, contributing to rapid, reactive swings in affect. We outline candidate physiological correlates-including heart-rate variability dynamics, pupillary variability, mismatch negativity, and neural indices of interoceptive precision-that could evaluate these hypotheses. Framing intervention around restoring flexible inference rather than suppressing emotion offers a mechanistic direction for developmental research. These predictions await empirical validation in developmental samples.

Lien vers le texte intégral (Open Access ou abonnement)

21. Stewart CE, Keenan J, Awe A, Phillips G, Kroll L, John-Legere S, Mathura N, Sharma A. Fifteen-minute consultation: Is it autism-or something else? A practical clinical guide. Arch Dis Child Educ Pract Ed;2026 (May 11)

Referrals for children presenting with social, communication and behavioural differences have risen sharply in recent years, creating unprecedented demand for autism assessments. Waiting times now frequently exceed 2 years, placing considerable strain on diagnostic services and families. While autism is common, many children presenting with these differences have alternative or co-occurring explanations that require timely recognition and tailored support. This article presents a practical child-centred framework to guide clinicians involved in early assessment or referral decision-making when diagnostic uncertainty exists. It also supports earlier and more equitable access to strengths and needs informed care, regardless of diagnostic outcome.

Lien vers le texte intégral (Open Access ou abonnement)

22. Yoon TH. Play, physical activity, and exercise interventions for behavioral and social outcomes in autism spectrum disorder: a narrative review. J Exerc Rehabil;2026 (Apr);22(2):40-50.

Autism spectrum disorder (ASD) is characterized by persistent difficulties in social communication and interaction, alongside restricted and repetitive patterns of behavior. Growing evidence suggests that play, physical activity (PA), and exercise may contribute to improvements in behavioral regulation and social functioning in individuals with ASD. However, findings across studies remain heterogeneous with respect to intervention type, intensity, and targeted outcomes, making it challenging to draw unified conclusions. This narrative review aimed to synthesize and discuss existing literatures on play-based, PA, and exercise interventions targeting behavioral and social outcomes in individuals with ASD. Overall, the literature indicated that PA and exercise programs-particularly those incorporating social interaction, task-oriented play, or group-based formats-were associated with meaningful improvements in both sociobehavioral domains. Potential mechanisms underlying these effects included enhanced executive functioning, improved self-regulation, neurobiological adaptations, and increased opportunities for social learning. Nevertheless, variability in study design, outcome measures, and methodological quality limits the generalizability of findings. Future research should prioritize well-designed trials with standardized outcome measures and clearly defined intervention parameters to strengthen the evidence base and inform clinical and educational practice.

Lien vers le texte intégral (Open Access ou abonnement)

23. Zhao T, Tian P, Liu Z, Bian B, Lv X, Jie Y, Zhu X, Dou L, Jia F, Li D. Elevated medial prefrontal GABA/Glx ratio in preschool autistic children: A (1)H-MRS study of cognitive and behavioral correlates. Prog Neuropsychopharmacol Biol Psychiatry;2026 (May 11);147:111740.

BACKGROUND: The excitation/inhibition (E/I) imbalance theory posits that altered GABAergic signaling underlies the pathophysiology of autism. However, findings regarding GABA levels in early childhood remain inconsistent. This study investigates the neurochemical profile of the medial prefrontal cortex (mPFC) in preschool-aged autistic children and its relationship with developmental and behavioral phenotypes. METHODS: We recruited 141 autistic children (aged 2-5 years) without intellectual disability and 40 age- and sex-matched typically developing (TD) controls. Proton magnetic resonance spectroscopy ((1)H-MRS) was acquired from the mPFC using a MEGA-PRESS sequence. Metabolites were quantified using LCModel. Partial correlation analyses, controlling for age, were performed to examine associations between the GABA/Glx ratio and clinical measures (GDSC, ABC, and CARS). RESULTS: Autistic children exhibited a significantly elevated mPFC GABA/Glx ratio compared to TD controls (0.93 ± 0.16 vs. 0.77 ± 0.38; p = 0.015). Specifically, analysis of individual metabolites scaled to unsuppressed water revealed that this elevated ratio was primarily driven by a significant increase in absolute GABA levels (5.65 ± 2.24 vs. 3.76 ± 2.13 i.u.; p < 0.001), while absolute Glx levels showed no significant difference (25.60 ± 19.65 vs. 65.52 ± 186.28 i.u.; p = 0.184), indicating a shift towards increased relative inhibition. Within the autistic group, the GABA/Glx ratio was positively correlated with the developmental quotient (r = 0.225, p = 0.013) and somatic/stereotypic behaviors (r = 0.231, p = 0.011), but negatively correlated with overall symptom severity (r = -0.222, p = 0.014). CONCLUSIONS: These findings suggest that elevated mPFC inhibitory tone may represent a compensatory mechanism or a developmental feature of early autism. The distinct correlations with cognition and symptom severity highlight the mPFC GABA/Glx ratio as a potential exploratory neurochemical correlate for early neurodevelopmental evaluation.

Lien vers le texte intégral (Open Access ou abonnement)