Pubmed du 29/10/25
1. Abdelwahab Khedr M, Alqarawi N, Mohammed Hussein R. Uncovering the Relationship Between Bullying, Social Communication Challenges, and the Emergence of Mental Health Problems Among Saudi Children with Autism Spectrum Disorder. Children (Basel). 2025; 12(10).
Background/Objective: Children with ASD are particularly vulnerable to bullying, which may exacerbate mental health issues. This study aims to explore the intricate relationships between bullying, social communication challenges, and the emergence of mental health problems among Saudi children with ASD. Additionally, it examines the mediating role of social communication challenges in these associations. Methods: A cross-sectional study was conducted with 150 children diagnosed with ASD at the Abdullah Altamimi Centre. Data were collected using the Child-Adolescent Bullying Scale, Social Communication Questionnaire, and Strengths and Difficulties Questionnaire. The data collection period lasted for three months, from the beginning of December 2024 to the end of February 2025. Results: The mean child-adolescent bullying score was 46.37, indicating prevalent bullying experiences. The mean Strengths and Difficulties Questionnaire score was 21.35, revealing significant emotional and behavioral difficulties. Positive correlations were found between bullying and social challenges (r = 0.306, p < 0.001) and emotional problems (r = 0.247, p = 0.002). Mediation analysis indicated that social communication challenges significantly mediated the relationship between bullying and strengths and difficulties scores (p < 0.001). Conclusions: Bullying significantly affects the mental health of Saudi children with ASD, highlighting the need for targeted interventions to enhance social communication skills and mitigate the impacts of bullying. These findings underscore the need to address these challenges within the cultural context of Saudi Arabia to enhance the well-being of this vulnerable population.
Lien vers le texte intégral (Open Access ou abonnement)
2. Akoto J, Roule T, Akizu N. PRC2 Diversity in Neuronal Differentiation and Developmental Disorders. Genes (Basel). 2025; 16(10).
Advances in genetic studies have not only improved the diagnosis and treatment of neurodevelopmental disorders but also uncovered human-specific aspects of nervous system development. The generation of neuronal diversity in the human brain relies on tightly regulated epigenetic mechanisms, with Polycomb Repressive Complex 2 (PRC2) emerging as a key player. In this review, we first summarize foundational studies that established the role of PRC2 in the epigenetic maintenance of transcriptional silencing. We then highlight recent insights into the increasing evolutionary complexity of PRC2 subcomplexes, their roles in neurodevelopment, and their contribution to human developmental disorders.
Lien vers le texte intégral (Open Access ou abonnement)
3. Al-Ayadhi LY, Elamin NE, Abdulmaged DA, Halepota AT, Halepoto DM. Examining the Potential Link Between Forkhead Box P1 and Severity and Social Impairment in Children with Autism Spectrum Disorder. J Clin Med. 2025; 14(20).
Background: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by impaired social skills and communication. Forkhead box protein P1 (FOXP1) is involved in the development of the brain and the pathogenesis of ASD. However, the function of FOXP1 within the brain remains unclear. The aim of this case-control study was to evaluate whether FOXP1 could be used as a diagnostic biomarker for ASD. Method: Blood plasma was collected from children with ASD and age-matched controls. The enzyme-linked immunosorbent assay (ELISA) was used to determine the FOXP1 plasma levels in ASD and control groups. The behavioral and social impairments in children with ASD were assessed using the Childhood Autism Rating Scale (CARS) and the Social Responsiveness Scale (SRS). Spearman’s correlation coefficient (r) was used to determine the correlation between different variables. Results: The plasma FOXP1 protein level was significantly decreased in children with ASD compared to the controls (p < 0.001). CARS showed significant differences between the mild-to-moderate and severe subgroups, while the SRS showed no significant difference between the two subgroups. Moreover, both the mild-to-moderate and severe subgroups exhibited a substantial drop in plasma FOXP1 compared to the controls. ASD children older than six years old also showed a significantly decreased FOXP1 level, compared to those aged six years or less. Furthermore, no significant correlation between the FOXP1 level, CARS, and SRS was observed. However, a negative correlation was found between age and FOXP1 plasma level. Conclusions: We suggest that plasma FOXP1 may act as a potential biomarker for the prognosis of ASD severity and social communication impairment. Further research with a larger sample size is needed to clarify these associations and help diagnose or understand the underlying mechanism of ASD.
Lien vers le texte intégral (Open Access ou abonnement)
4. Alamoudi AA. Constant time delay to teach receptive language via sign language to an adolescent with autism spectrum disorder. Acta Psychol (Amst). 2025; 261: 105777.
BACKGROUND: This study examined the effectiveness of an intervention using constant time delay (CTD) and prompting in teaching a nonvocal adolescent with autism spectrum disorder (ASD) to answer questions using manual sign language. METHOD: A multiple-probe design across four different question sets was employed to evaluate the efficacy of CTD in facilitating question-answering via an sign language. FINDINGS: Throughout the intervention phase, the participant’s performance on all four sets showed consistent improvement, demonstrating the potential of CTD and prompting in enhancing receptive language skills. The participant maintained mastery of these skills after the intervention was withdrawn and demonstrated generalization across novel sets, further supporting the effectiveness and strength of the learning achieved. CONCLUSION: The results of this study suggest that CTD and prompting are useful strategies for teaching communication skills to children with ASD, particularly sign language skills, which can help support functional communication in nonvocal individuals.
Lien vers le texte intégral (Open Access ou abonnement)
5. Azhari A, Rai A, Chua YHV. A Systematic Review of Inter-Brain Synchrony and Psychological Conditions: Stress, Anxiety, Depression, Autism and Other Disorders. Brain Sci. 2025; 15(10).
BACKGROUND: Inter-brain synchrony (IBS)-the temporal alignment of neural activity between individuals during social interactions-has emerged as a key construct in social neuroscience, reflecting shared attention, emotional attunement, and coordinated behavior. Enabled by hyperscanning techniques, IBS has been observed across a range of dyadic contexts, including cooperation, empathy, and communication. This systematic review synthesizes recent empirical findings on inter-brain synchrony (IBS)-the temporal alignment of neural activity between individuals-across psychological and neurodevelopmental conditions, including stress, anxiety, depression, and autism spectrum disorder (ASD). METHODS: Drawing on 30 studies employing hyperscanning methodologies (EEG, fNIRS, fMRI), we examined how IBS patterns vary by clinical condition, dyad type, and brain region. RESULTS: Findings indicate that IBS is generally reduced in anxiety, depression, and ASD, particularly in key social brain regions such as the dorsolateral and medial prefrontal cortices (dlPFC, mPFC, vmPFC), temporoparietal junction (TPJ), and inferior frontal gyrus (IFG), suggesting impaired emotional resonance and social cognition. In contrast, stress elicited both increases and decreases in IBS, modulated by context, emotional proximity, and cooperative strategies. Parent-child, therapist-client, and romantic dyads exhibited distinct synchrony profiles, with gender and relational dynamics further shaping neural coupling. CONCLUSIONS: Collectively, the findings support IBS as a potentially dynamic, condition-sensitive, and contextually modulated neurophysiological indicator of interpersonal functioning, with implications for diagnostics, intervention design, and the advancement of social neuroscience in clinical settings.
Lien vers le texte intégral (Open Access ou abonnement)
6. Cao Y, Fan T, Lu R, Liu J, Weng T, Huang K, Gao H, Yan S, Gao G, Yang F, Tao F, Zhu B. Effect of gestational diabetes on neurodevelopment outcome of the offsprings- Ma’an shan birth cohort study. BMC Pediatr. 2025; 25(1): 879.
BACKGROUND: Gestational diabetes mellitus (GDM) affects children’s neurodevelopmental processes. However, continuous monitoring of this effect across different child age span is lacking. STUDY DESIGN: 1438 mother-infant pairs were finally include in the analysis. Data of a 75-g oral glucose tolerance test (OGTT) administered to women at 24-28 weeks of pregnancy was collected. Neurodevelopment in childhood was assessed using the Ages and Stages Questionnaires. RESULTS: At the age of 6 months, GDM offspring had higher risk of delays in the fine motor domain [aOR = 1.77 (95%CI:1.08 ~ 2.88)]. At the age of 18 months, maternal GDM was associated with delays in the domains of fine motor [aOR = 1.94 (95%CI:1.01 ~ 3.72)] and fasting plasma glucose and 1-hour post-load glucose (1-h PG) were more strongly associated with neurodevelopmental delays compared to 2-hour post-load glucose (2-h PG). CONCLUSIONS: The impaired neurophysiological development risk among offspring born to mothers with GDM increased, particularly evident at 18 months of age and more pronounced in girls.
Lien vers le texte intégral (Open Access ou abonnement)
7. Coelho F, Rando B, Salgado M, Abreu AM. Sensory Processing of Time and Space in Autistic Children. Children (Basel). 2025; 12(10).
Background/Objectives: Autism is characterized by atypical sensory processing, which affects spatial and temporal perception. Here, we explore sensory processing in children with autism, focusing on visuospatial and temporal tasks across visual and auditory modalities. Methods: Ninety-two children aged 4 to 6 participated, divided into three groups: autism (n = 32), neurotypical chronological age-matched controls (n = 28), and neurotypical developmental age-matched controls (n = 32). The autism group consisted of high-functioning children (26 boys). The participants completed computer-based tasks requiring spatial and temporal processing. Response accuracy and reaction times were recorded. Results: The autism group demonstrated higher accuracy in temporal tasks (visual and auditory modalities) and comparable accuracy in visuospatial modality, but slower response times in all tasks compared to both neurotypical controls. These results suggest a strategy that prioritizes accuracy over speed, while preserving spatial and temporal processing in autism. Conclusions: These findings suggest that temporal processing, rather than the sensory modality, drives decision-making strategies in children with autism. Our findings highlight the need for interventions aligned with autistic children’s slower but accurate processing style to support social interaction and reduce stress. In a fast-paced digitalized world, autistic children might benefit from slower, balanced, and inclusive, evidence-based approaches that align with their cognitive rhythm and reduce overstimulation. By incorporating these unique strategies, targeted programs can enhance the quality of life and adaptive skills of children with autism, thereby fostering better integration into social and sensory-rich environments.
Lien vers le texte intégral (Open Access ou abonnement)
8. David A, Gal E, Ben-Sasson A, Kohn E, Berkovitch M, Stolar O. Effects of Medical Cannabis Treatment for Autistic Children on Family Accommodation: An Open-Label Mixed-Methods Study. Children (Basel). 2025; 12(10).
BACKGROUND/OBJECTIVES: Parents of autistic children often face behavioral and participation challenges of their children, leading them to make accommodations to maintain a stable daily family routine. These family accommodations (FA) involve adapting family routines, actively engaging with the child’s support needs and symptoms, and avoiding specific situations. METHODS: This open-label, mixed-methods study investigated the impact of CBD-rich cannabis treatment on FA. In the quantitative phase, analyses included 44 parents (from 87 initially recruited) who had complete FAS-RRB data at baseline, 3 months, and 6 months. In the following qualitative phase, 15 parents from the full sample participated in semi-structured interviews. RESULTS: Quantitative results showed reductions in FA frequency and parental distress at 3 and 6 months. Qualitative findings revealed positive changes in family routines, enhanced well-being, and improved parental engagement in meaningful activities and social interactions. CONCLUSIONS: This study provides preliminary evidence that CBD-rich cannabis treatment may reduce family accommodation (FA) and parental distress, while improving family routines and well-being. However, given the open-label design and observed adverse events and withdrawals, the findings should be interpreted with caution.
Lien vers le texte intégral (Open Access ou abonnement)
9. de Oliveira CA, Iorio EL, Espíndola FS. Redox System Dysfunction as a Key Mechanism in Autism Spectrum Disorder Pathogenesis. Int J Mol Sci. 2025; 26(20).
Autism Spectrum Disorder (ASD) is a complex and multifactorial neurodevelopmental condition whose pathogenesis remains only partially elucidated. Earlier accounts of oxidative stress in ASD often relied on the reductive paradigm of an imbalance between oxidants and antioxidants. In contrast, this narrative review, based on a systematic examination of 1102 publications indexed in scientific databases from 2002 to July 2025, reframes the discussion in terms of redox system dysfunction, a broader and more integrative construct. Here, reactive oxidant species, molecular targets, and reducing/antioxidant counterparts are considered elements of a dynamic circuitry whose maladaptation progressively undermines homeostasis. The sequence of events unfolds in three stages. The first is primary redox dysfunction, manifesting as alterations in metabolic, signaling, and defense pathways. From this disturbance, a second stage arises, marked by functional derailment of cellular compartments-from membranes and cytosol to organelles and nuclei-including mitochondrial and peroxisomal deficits. Ultimately, a third stage emerges, defined by neurodevelopmental alterations such as impaired neurotransmission, synaptic dysfunction, abnormal plasticity, morphogenetic defects, neuroinflammation, and gut-brain-microbiota disarrangements. This progression situates the redox system as a central hub at the interface between human cells and the microbiota, resonating with the ecological and evolutionary principles of the holobiont and the One Health framework. By weaving dispersed evidence into a coherent perspective, this review advances beyond previous analyses, offering a unifying paradigm that connects biochemical dysfunction to clinical heterogeneity in ASD and opens new directions for interdisciplinary research.
Lien vers le texte intégral (Open Access ou abonnement)
10. Dell’Osso L, Nardi B, Pini S, Massimetti G, Castellani L, Parri F, Del Grande F, Bonelli C, Concerto C, Di Vincenzo M, Della Rocca B, Signorelli MS, Fusar-Poli L, Figini C, Politi P, Aguglia E, Luciano M, Carpita B. Relationships Among Bullying Experiences, Mood Symptoms and Suicidality in Subjects with and Without Autism Spectrum Conditions. Brain Sci. 2025; 15(10).
Background: Bullying is a major public health issue with long-term psychological consequences, particularly for individuals with Autism Spectrum Disorder (ASD) or subthreshold autistic traits, known as « broad autistic phenotype » (BAP). Prior studies have suggested increased vulnerability to victimization and mood disorders in these populations, but the association between bullying, autistic traits, and affective symptoms remains underexplored. Methods: A total of 98 individuals with at least one ASD symptom (BAP group) and 159 healthy controls (HCs) were recruited. Participants were classified into four groups based on ASD symptoms and bullying history. Standardized self-report instruments (AdAS Spectrum, AQ, MOODS-SR) assessed autistic traits, mood symptoms, and suicidality. Group comparisons, correlation analyses, and multiple regression models were conducted to evaluate the relationships between bullying, autistic traits, and mood disturbances. Results: BAP individuals, particularly those with ASD, reported significantly higher rates of bullying than HCs. Bullied BAP participants exhibited the highest burden of mood symptoms and suicidality. Regression analyses identified both autistic traits and bullying history as significant predictors of suicidal ideation and overall suicidality, though only autistic traits predicted suicidal behaviors. AQ and MOODS-SR scores were positively correlated, especially in depressive and rhythmicity domains. Conclusions: Autistic traits and bullying experiences independently and interactively contribute to increased mood symptomatology and suicidality. These findings underscore the importance of early identification and targeted support for at-risk individuals with ASD or BAP, particularly those with a history of victimization.
Lien vers le texte intégral (Open Access ou abonnement)
11. Forbes PA, Hughes G, Schilbach L, White S, Kalenscher T. Increased prosocial value orientation in autistic adults. Autism. 2025: 13623613251385029.
Social discounting describes the tendency to give fewer resources to those we feel less close to. Previous work suggests autistic individuals show a flatter decline in generosity towards socially distant others compared with non-autistic participants. We investigated whether this enhanced prosociality towards socially distant others in autism was driven by genuinely higher prosociality or instead a preference for repetitive responding. We measured prosocial preferences in 37 autistic and 38 non-autistic adults using the social value orientation questionnaire, where participants allocated money between themselves and people at six different social distances (e.g. friend vs stranger). We replicated previous findings by showing that autistic adults were more prosocial than non-autistic adults towards more socially distant others. Crucially, these effects were not driven by more repetitive responding in autism, nor by differences in attitudes to money. While autistic people often face challenges navigating their social worlds, our findings reinforce the view that autism is also associated with more prosociality. We argue that differences in fairness norms could drive more prosociality in autism, but this remains to be tested in future work.Lay abstractSharing and giving to others are important for our social relationships. Previous studies show that when given opportunities to share money, autistic and non-autistic people give the same amount of money to people they feel close to, like their friends. However, compared with non-autistic people, autistic people give more money to people they feel less close to, like strangers. In this study, we replicated this finding. Compared with non-autistic participants, autistic participants were more generous to people they did not feel close to. We also found that this increased generosity in autism was not the result of autistic participants responding more repetitively in the task. Autistic and non-autistic participants also showed similar attitudes towards money. We propose that some autistic people could be more generous because they show differences in how they think about fairness. But future studies will need to look at this more closely. We hope that our results can help to change the way people think about social behaviour in autism. While autistic people often face challenges navigating their social worlds, autism can also be associated with more generosity.
Lien vers le texte intégral (Open Access ou abonnement)
12. Frost KM, Hsu HE, Petruccelli M, Keehn RM, Rue H, Beeler A, Broder-Fingert S. Value-Based Care and Accountable Care Organizations: Implications for Early Autism Diagnosis and Access to Quality Care. Behav Sci (Basel). 2025; 15(10).
The incentives in fee-for-service healthcare payment systems to increase clinical volume often work in opposition to efforts to coordinate care or improve care delivery in partnership with community-based services. There has been increasing interest in and adoption of value-based care as an alternative healthcare delivery model in which clinician reimbursement is based on measures of healthcare quality and patient outcomes, meant to shift the focus from generating volume toward providing more efficient, coordinated care. In this commentary, we discuss potential benefits, challenges, and unintended consequences of this fundamental shift in payment systems and the specific implications for autism services, highlighting critical areas of focus for future research and policy development.
Lien vers le texte intégral (Open Access ou abonnement)
13. Frunda EA, Mártha OKI, Kiss A, Vida Á O, Reman TL, Gherasim RD, Ghirca VM, Chibelean BC, Porav-Hodade D, Muntean CV. Functional Magnetic Stimulation in the Management of Lower Urinary Tract Dysfunction in Children with Asperger Syndrome: A Case Report. Children (Basel). 2025; 12(10).
Background/Objectives: A variant of autism spectrum disorder (ASD) known as Asperger syndrome (AS) shows increasing incidence worldwide, affecting between 0.02% and 0.03% of children. Patients display abnormal conduct, are limited in social interaction and communication, and are more often affected by micturition disorders, incontinence, and voiding symptoms than typically developing children. Methods: The present study aimed to review the literature related to the current management of lower urinary tract conditions in children with Asperger syndrome and to present a case of a 14-year-old girl with ASD, with characteristic impairments, including communication challenges, stereotyped, repetitive behaviors, and chronic constipation with concomitant bladder dysfunction, presenting recurrent urinary tract infections (UTIs) and lower urinary tract symptoms (LUTS), including voiding and filling storage symptoms. For the AS, she was treated with a selective serotonin reuptake inhibitor (Sertraline). An abdominal ultrasound, PLUTTS-pediatric lower urinary symptoms scoring (21); QL-quality of life (3); voiding diary; and uroflowmetry were performed, revealing an incomplete urinary retention (incomplete bladder emptying of 120 mL), a prolonged and interrupted curve, a maximum urinary flow rate (Qmax) 7 mL/s, and a UTI with Enterococcus. Results: Besides psychiatric reevaluation and antibiotic therapy, functional magnetic stimulation (FMS) sessions were performed. After eight sessions (20 min, 35 MHz, every second day), the ultrasound control and the uroflowmetry showed no residual urine, and the Qmax was 17 mL/s. The curve continued to be interrupted: PLUTSS-11, QL-1. FMS was continued at two sessions per week. At the 3-month follow-up, no residual urine was detected, and Qmax reached 24 mL/s. Conclusions: ASD is an incapacitating/debilitating condition that significantly impairs social functioning. In many cases, in addition to psychological symptoms, other conditions such as LUTS and constipation may coexist. Antipsychotics and antidepressants are frequently prescribed for these patients, often leading to various side effects, including micturition disorders. Therefore, screening for LUTS is recommended, and, if indicated, treatment-especially non-pharmacological and non-invasive approaches, such as FMS-should be considered.
Lien vers le texte intégral (Open Access ou abonnement)
14. Ganai UJ. Autistic traits, psychosis proneness, and empathy in preadolescents: A network analysis. Sci Rep. 2025; 15(1): 37922.
Autism spectrum disorder and psychotic disorders, although clinically distinct, share overlapping characteristics, particularly in the domain of social cognition. Both autistic traits and psychotic-like experiences (PLEs) are increasingly conceptualized as existing along a continuum within the general population. Empathy, a fundamental aspect of social cognition, is commonly associated with both conditions. This study examined the relationships among autistic traits, PLEs, and empathy in a large general-population sample of preadolescents using network analysis. Data were drawn from the Adolescent Brain Cognitive Development Study, including 9,214 participants (age range = 8.92 to 11.08 years; 4,850 males). Autistic traits were assessed using the abbreviated version of the Social Responsiveness Scale, Second Edition, which measures social and communication difficulties and restricted and repetitive behaviors. PLEs were evaluated using the Prodromal Questionnaire, Brief Child Version, which assesses hallucinations, thought delusions, and grandiose delusions. Associations among these constructs were modeled using both an undirected Gaussian graphical model and a directed acyclic graph (DAG). Higher empathy scores were negatively associated with elevated autistic traits (social and communication interactions and restricted and repetitive behaviors) and with PLEs (grandiose delusions). Moreover, higher levels of autistic traits were positively associated with greater distress related to grandiose delusions and hallucinations. Centrality analysis identified hallucinations as a key node in the network, a result supported by the DAG. Sex-specific analyses revealed subtle differences in network connectivity between males and females. These findings highlight the intricate interplay among autistic traits, PLEs, and empathy during preadolescence and emphasize empathy’s negative relationship with autistic traits. Overall, the results offer insight into shared social cognitive processes across neurodevelopmental and psychosis-spectrum traits.
Lien vers le texte intégral (Open Access ou abonnement)
15. Gevarter C, Branaman J, Nico J, Gallegos E, McGuire R. Multimodal Communication Outcomes for Hispanic Autistic Preschoolers Following Coached Student Clinician and Caregiver-Led NDBIs. Behav Sci (Basel). 2025; 15(10).
This study examined child outcomes for five minimally verbal (or non-speaking) autistic preschoolers who participated in cascading coaching programs in which naturalistic developmental behavioral intervention (NDBI) techniques were taught to graduate student clinicians and Hispanic caregivers (three who primarily spoke English, and two who spoke Spanish). While prior studies reported on adult participant outcomes, this study analyzed child multimodal communication outcomes, using multiple baselines/probes single case experimental designs across contexts. Neurodiversity-affirming and culturally responsive principles were embedded within the intervention procedures. Following the introduction of a coached NDBI, all five children (three who received the intervention in English and two who received the intervention in Spanish) demonstrated increased use of (a) the total targeted communicative responses and (b) the targeted unprompted communicative responses, across both student clinician-led and caregiver-led play sessions. The Tau-U effect size measures revealed large-to-very large effects across all of the variables. Overall, higher rates of communication responses were observed during student clinician-led sessions than in caregiver-led sessions. Additionally, behavioral coding of the multimodal response forms (e.g., gestures, aided augmentative and alternative communication, signs, vocal words) using the Communication Matrix revealed that the children used a variety of response topographies during the intervention sessions beyond their preferred communication mode (e.g., signs for three participants). Four of the five children used symbolic communication forms consistently across both caregiver and student clinician-led sessions. Importantly, adults’ reinforcement of pre-symbolic or less advanced communication forms during the intervention did not inhibit the use of more advanced forms.
Lien vers le texte intégral (Open Access ou abonnement)
16. Gringras P, Malow BA, Schröder CM. Comment on Paditz et al. The Pharmacokinetics, Dosage, Preparation Forms, and Efficacy of Orally Administered Melatonin for Non-Organic Sleep Disorders in Autism Spectrum Disorder During Childhood and Adolescence: A Systematic Review. Children 2025, 12, 648. Children (Basel). 2025; 12(10).
We are writing in response to the recently published article, « The Pharmacokinetics, Dosage, Preparation Forms, and Efficacy of Orally Administered Melatonin for Non-Organic Sleep Disorders in Autism Spectrum Disorder During Childhood and Adolescence: A Systematic Review » by Paditz et al […].
Lien vers le texte intégral (Open Access ou abonnement)
17. Hillel S, Aaronson B, Gilboa Y. Independence in Activities of Daily Living Among Autistic Toddlers: A Pilot Study Using Ecological Momentary Assessment. Children (Basel). 2025; 12(10).
Background: The acquisition of adaptive skills is critical for independence and participation in activities of daily living (ADL). While caregiver perceptions provide valuable insights, most studies on autistic participation have focused on older children and relied on one-time clinic-based assessments. As a result, little is known about how autistic toddlers function in their natural environments across time. Ecological momentary assessment (EMA) is a real-time, context-sensitive method in which parents can report behaviors at multiple time points in the child’s natural environment. This pilot study aimed to examine ADL independence in autistic toddlers compared to their typically developing (TD) peers, to assess the feasibility of using EMA in early childhood, and to compare EMA-based assessments with a one-time standardized report. Methods: 23 autistic toddlers and 28 TD toddlers (aged 18-40 months) participated in the study. Parents completed a one-time report on the self-care scales of the Pediatric Evaluation of Disability Inventory (PEDI) and the Functional Independence Measure for Children (WeeFIM) and then rated their child’s independence on the WeeFIM twice a day for two weeks via their smartphones. Results: EMA was feasible with high response rates (ASD: 91.1%, TD: 88.55%). Autistic toddlers showed different participation profiles, with less independent performance in ADL compared to TD peers. In the autism group, the average EMA scores (M = 16.53, SD = 6.58) were significantly higher than the one-time WeeFIM scores (M = 13.74, SD = 5.23), t (22) = 3.23, p < 0.01, suggesting underreporting in single-time assessments. In contrast, no such difference was found in the TD group. Significant positive correlations were found between the EMA mean and the one-time WeeFIM scores in both groups (r > 0.80), indicating convergent validity. In the autism group only, greater variability in EMA was moderately associated with higher functional independence (r = 0.46, p < 0.01). Conclusions: These findings indicate that autistic toddlers demonstrated higher levels of participation in their natural environment than reflected by the one-time assessment, emphasizing the limitations of single-time-point evaluations. This underscores the importance of collecting data across multiple time points to accurately assess adaptive functioning and ADL participation. The EMA technique demonstrated in this study provides exploratory evidence of feasibility as an ecologically valid approach to assessing functional independence in autistic toddlers, offering a richer and more context-sensitive alternative to traditional one-time clinical assessments.
Lien vers le texte intégral (Open Access ou abonnement)
18. Irram S, Suaib M. An early detection of autism spectrum disorder using machine learning. Comput Biol Med. 2025; 198(Pt B): 111238.
BACKGROUND: Children with autism spectrum disorder (ASD), a developmental disease, exhibit limited and repetitive activities in addition to challenges with communication and social interaction. Numerous neurological disorders have been identified with the aid of the electroencephalography (EEG) technology, which measures the electrical activity of the brain. OBJECTIVE: The primary purpose of this study is to use EEG data to detect ASD in newborns. METHODS: Power values from baseline EEG recordings of babies are processed and analyzed to extract relevant information. Using machine learning approaches like decision tree (DT), random forest (RF), and support vector machine (SVM) and Explainable AI(SHAP), the model is trained using extracted data to differentiate between those with ASD and those who are usually developing. SHAP (SHapley Additive exPlanations) is a technique that can be used to describe the output of machine learning models. Understanding the rationale behind the predictions produced by the best-performing model is made easier with SHAP. RESULTS: Our machine learning model with SVM classifier (AUC = 93 %) and RF classifier (AUC = 90 %) has demonstrated exceptional performance in diagnosing infants with ASD. Novelty: Previously little-focused, this work provides a machine learning model with the use of explainable AI to identify autism spectrum disorder in children under the age of one. Early identification of ASD is challenging since children under the age of 18 months do not exhibit many behavioral indicators. Therefore, medical reports of infants’ EEGs are useful in determining whether or not an infant has ASD. APPLICATIONS: As a result, this model may be used to automatically diagnose ASD using the infant’s EEG data.
Lien vers le texte intégral (Open Access ou abonnement)
19. Kaur R, Dsouza DJ. From core to steps: Development and validation of next-level interactive social pragmatic interventions and responsive engagement for children with autism, through trackable intervention model. MethodsX. 2025; 15: 103663.
Early intervention programs such as INSPIRE-Core have highlighted the importance of fostering foundational pragmatic skills-including greetings, simple turn-taking, and sharing-among toddlers with autism. While these foundations are crucial, children require advanced support as they enter preschool and school-age years, where social demands involve initiating conversations, turn-taking, making requests, refusing, greeting appropriately, and clarifying misunderstandings. To address this gap, the present study introduces INSPIRE-Steps, a structured and trackable intervention model for children with autism aged 3-9 years. The program was developed in three phases. In Phase I, a hierarchical toolkit of culturally relevant, story-based modules was created to target higher-order pragmatic competencies such as negotiation, refusal, and communication repair. In Phase II, validation was carried out by a multidisciplinary panel of speech-language pathologists, educators, psychologists, and parents to ensure clarity, developmental appropriateness, and usability. In Phase III, the program was standardized on a stratified sample through caregiver- and teacher-mediated sessions across home and clinical environments.•Continuity: Builds upon INSPIRE-Core by extending to higher-level pragmatic skills.•Toolkit Development: Story-based, stepwise modules for school-age children.•Validation and Standardization: Multidisciplinary review and implementation across home and clinical settings.
Lien vers le texte intégral (Open Access ou abonnement)
20. Leisman G, Alfasi R, Melillo R. Neurobiological and Behavioral Heterogeneity in Adolescents with Autism Spectrum Disorder. Brain Sci. 2025; 15(10).
BACKGROUND: Adolescents with autism spectrum disorder (ASD) display distinct neurodevelopmental trajectories marked by atypical neural activation and white matter maturation compared to neurotypical peers. INTRODUCTION: While improvements in face recognition and cognitive skills occur during childhood and adolescence, individuals with ASD often experience a plateau in these areas as they transition to adulthood, impacting daily living, executive function, social cognition, and emotional awareness. RESULTS: Neuroimaging studies reveal altered white matter growth and connectivity in brain regions associated with social processing, which may underlie these functional challenges. Intellectual disability further compounds developmental difficulties by limiting foundational abilities and slowing progress. DISCUSSION: The multifaceted and persistent service needs spanning legal, educational, vocational, health, and psychosocial domains highlight the necessity for coordinated, individualized, and family-centered approaches, particularly during the transition to adulthood. Advances in research integrating genetic, neurobiological, and behavioral data hold potential for refining diagnostic subgroups and personalizing interventions. CONCLUSION: Continued advocacy and innovation in service delivery are essential to address gaps in adult support systems and enhance long-term outcomes for individuals with ASD.
Lien vers le texte intégral (Open Access ou abonnement)
21. Lev-Ari R, Lotan M, Korn L. The Role of Capoeira in Improving Motor and Social Skills in Children with Autism. Children (Basel). 2025; 12(10).
BACKGROUND: Children with Autism often face motor, sensory and communicational challenges that can hinder their participation in meaningful physical and social activities. This study explores the potential of Capoeira to support their development across these domains. METHODS: This qualitative pilot study used semi-structured interviews with parents of children aged 7-15 with Autism Spectrum Disorder (ASD) who participated in group Capoeira programs. Data were analyzed through content categorization, leading to the development of thematic constructs. RESULTS: Three central domains emerged regarding the perceived impact of Capoeira training on children with Autism: 1. Improvements in areas commonly affected in Autism, including sensory and auditory regulation, motor coordination, bodily awareness, compliance, and social communication. 2. Increased motivation, independence, sense of belonging and integration into mixed peer groups of typically developing (TD) children and children with ASD. 3. Broader developmental gains were also reported, such as increased self-confidence, initiative, awareness of others, and transfer of skills beyond the training context. CONCLUSIONS: The findings suggest that Capoeira may serve as an effective integrated intervention model, supporting physical and social development in children with ASD. Capoeira was reported to be associated with improved coordination, balance, body awareness, and gains in nonverbal interaction and social engagement, all within a collaborative, non-competitive framework. Future studies should explore the short and long-term impact of such interventions through quantitative outcome measures, as well as clarify the mechanisms that promote successful integration.
Lien vers le texte intégral (Open Access ou abonnement)
22. Li J, Xi H, Zhang Q, Duan T, Li D, Shi L, Gan S, Li H, Zhu C. Reduced Attentional Capture by Topological Changes in Children with Autism Spectrum Disorder: Evidence for a Perceptual Deficit. Neuropsychiatr Dis Treat. 2025; 21: 2401-13.
BACKGROUND: Deficits in the adaptive allocation of attention are considered a feature associated with autism spectrum disorder (ASD). It remains unclear whether the attention of children with ASD can be modulated involuntarily by stimulus-driven processes. Visual processing is believed to initiate with topological perception; thus, we investigate the modulation of attention shifts in children with ASD by altering topological properties. This approach aims to elucidate the mechanism underlying atypical attentional capture in ASD. METHODS: Our study recruited 32 ASD children and 30 age-matched typically developing (TD) children. Employing an attentional capture paradigm, we systematically documented the eye movement of both ASD and TD participants in response to stimuli that included non-topological change (nTC), topological change (TC) and abrupt onset. RESULTS: The results suggest that the attention of children with ASD fails to be captured by TC and onset stimuli, and the degree of attentional bias towards TC is significantly correlated with their scores on clinical diagnostic scales. CONCLUSION: Our results suggest that atypical attentional capture in ASD children is likely a result of impaired processing of topological perception. This finding not only enhances our understanding of their attentional atypicality but also provides insights for intervention practices to improve global processing.
Lien vers le texte intégral (Open Access ou abonnement)
23. Liao X, Long J, Wang X, Han K, Tang Z, Chen J, Zhang Y, Zhang H. Multi-omics reveals cross-tissue regulatory mechanisms of autism risk loci via gut microbiota-immunity-brain axis. AMB Express. 2025; 15(1): 161.
Autism Spectrum Disorder (ASD) involves a multi-system interaction mechanism among genetics, immunity, and gut microbiota, yet its regulatory network remains undefined. This study conducted a meta-analysis on Genome-Wide Association Study data from four independent ASD cohorts to identify potential genetic loci. By integrating Polygenic Priority Score, brain region, and brain cell eQTL enrichment analyses, and combining summary-data-based Mendelian Randomisation (SMR) analyses of brain cis-eQTL and mQTL, bidirectional Mendelian Randomisation analyses of 473 gut microbiota, and SMR analysis of blood eQTL, SNPs such as rs2735307 and rs989134 with significant multi-dimensional associations were identified. These loci exert cross-tissue regulatory effects by participating in gut microbiota regulation, involving immune pathways such as T cell receptor signal activation and neutrophil extracellular trap formation, as well as cis-regulating neurodevelopmental genes (HMGN1 and H3C9P), or synergistically influencing epigenetic methylation modifications to regulate the expression of BRWD1 and ABT1. The cross-scale evidence chain constructed in this study provides a theoretical foundation for precision medicine research in ASD, holding promise to advance the development of innovative therapeutic strategies.
Lien vers le texte intégral (Open Access ou abonnement)
24. Logan M. Tylenol autism lawsuit: Drug makers are sued by Texas attorney general. Bmj. 2025; 391: r2276.
Lien vers le texte intégral (Open Access ou abonnement)
25. Loizidou M, Busse A, Lane R, Marshall S. Autism Spectrum Disorder Traits and Other Offending Risk Factors in a London-Based Forensic Youth Population. Children (Basel). 2025; 12(10).
BACKGROUND: Research exploring the context in which ASD and offending are associated is limited, despite stereotyped perceptions that individuals with ASD are more violent than their typically developing peers. To address this gap, this research explored the influence of ASD, mental health and behavioural presentation, adverse childhood experiences, and demographic characteristics on offending presentations in a forensic youth sample. METHODS: This was a cross-sectional study of a retrospective cohort, utilising secondary data of 327 young people from a forensic London-based service (83% male, M(age) = 14.9 years old, SD = 1.90). RESULTS: One hundred forty-two of these young people presented with either confirmed or suspected ASD diagnoses (83.8% male, M(age) = 14.8 years old, SD = 1.84). Five offending categories (violence, sexually harmful behaviour, drug possession/supply, gang involvement, theft) and 32 offending behaviours were analysed in total. Poisson and negative binomial regression analyses indicated that ASD traits only increased the rate ratio of violent offences (p = 0.036) and gang involvement (p = 0.002). The use of substances significantly increased the rate ratio of theft (p = 0.012), gang involvement (p = 0.004), and drug possession/supply (p = 0.012). CONCLUSIONS: Our findings suggest that ASD, in the context of substance use, may increase a young person’s risk for more variable violent offences or gang involvement. Findings are discussed in the context of current research and recommendations for clinical practice and future research are made.
Lien vers le texte intégral (Open Access ou abonnement)
26. Luna-Mendoza I, Torres-Rasgado E, Cerón-Morales JA. Autism Spectrum Disorder and Temporal Lobe Epilepsy in a Physician: A Self-Reported Case of Neuropsychiatric and Functional Adaptations. Cureus. 2025; 17(9): e93350.
While the comorbidity of autism spectrum disorder (ASD) and epilepsy is well-documented, first-person accounts from physician-patients remain scarce. This report bridges that gap, offering both clinical and functional insights into the lived experience of this dual diagnosis. We detail the case of a 28-year-old physician, a recent medical school graduate, with confirmed ASD level 1 and structural temporal lobe epilepsy (TLE), alongside generalized anxiety disorder and major depressive disorder. The clinical picture is defined by a pronounced sensory hyper-reactivity and a lowered seizure threshold, leading to discognitive and generalized seizures often triggered by sensory or social overload. His management has required a coordinated, multidisciplinary regimen of antiepileptic and psychotropic medications. Our discussion integrates clinical data with a phenomenological perspective. The synergy between ASD and TLE appears to forge a distinct neurobiological profile that demands holistic treatment. The author’s development of functional adaptation strategies, a process of translating neurotypical demands into a neurodivergent operational framework, proved essential for navigating the rigors of medical education. This case illustrates that high professional achievement is attainable for individuals with complex neurodevelopmental comorbidities. It also makes a case for a paradigm shift in medicine and academia toward genuine neuro-inclusion, one that moves beyond simple accommodation to foster environments that truly value neurological diversity.
Lien vers le texte intégral (Open Access ou abonnement)
27. Malik W, Fahiem MA, Khan J, Jung Y, Alturise F. An Adaptive Transfer Learning Framework for Multimodal Autism Spectrum Disorder Diagnosis. Life (Basel). 2025; 15(10).
Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition with diverse behavioral, genetic, and structural characteristics. Due to its heterogeneous nature, early diagnosis of ASD is challenging, and conventional unimodal approaches often fail to capture cross-modal dependencies. To address this, this study introduces an adaptive multimodal fusion framework that integrates behavioral, genetic, and structural MRI (sMRI) data, addressing the limitations of unimodal approaches. Each modality undergoes a dedicated preprocessing and feature optimization phase. For behavioral data, an ensemble of classifiers using a stacking technique and attention mechanism is applied for feature extraction, achieving an accuracy of 95.5%. The genetic data is analyzed using Gradient Boosting, which attained a classification accuracy of 86.6%. For the sMRI data, a Hybrid Convolutional Neural Network-Graph Neural Network (Hybrid-CNN-GNN) architecture is proposed, demonstrating a strong performance with an accuracy of 96.32%, surpassing existing methods. To unify these modalities, fused using an adaptive late fusion strategy implemented with a Multilayer Perceptron (MLP), where adaptive weighting adjusts each modality’s contribution based on validation performance. The integrated framework addresses the limitations of unimodal approaches by creating a unified diagnostic model. The transfer learning framework achieves superior diagnostic accuracy (98.7%) compared to unimodal baselines, demonstrating strong generalization across heterogeneous datasets and offering a promising step toward reliable, multimodal ASD diagnosis.
Lien vers le texte intégral (Open Access ou abonnement)
28. McStravick A, Cousins R. Understanding the Support Needs of Family Caregivers Living with Severe Developmental Disability: An Interpretive Phenomenological Analysis. Healthcare (Basel). 2025; 13(20).
Background/Objectives: Living with a disabled family member has extensive implications for the whole family involved in their care, and there is dependency on healthcare support for maintaining quality of life. This qualitative study, conducted in Northern Ireland, investigated the support needs of different family members living with a severely impaired individual across the lifespan. A key objective was to identify support needs for intervention. Methods: In-depth semi-structured interviews were conducted to obtain data from eight mothers, fathers, sisters and brothers of a profoundly disabled child or sibling. Data was analyzed using Interpretive Phenomenological Analysis, allowing for the application of double hermeneutic in which the researchers derived meaning from the lived experiences of participants. Results: The analysis yielded five themes in total. Three themes were related to gaps in healthcare systems: Support Needs in Childhood, Support in Transition into Adult Services, and Worry for the Future; and two themes were linked with support needs: Associative Disability in Family Members; and Stigma. All family members had caregiving roles, and these had similarities and differences according to the relationship with the care-receiver. Participants recognized their families were survivors, however maintained a family tragedy rather than positive change outlook. Conclusions: Recommendations derived from the findings to alleviate the stressors of the situation for family members include increasing community support and age-related respite facilities. Additionally, improving and enhancing education of disabilities in schools, and immersing and further integrating individuals with disability into society, will alleviate the alienation, isolation and loneliness experienced by family members.
Lien vers le texte intégral (Open Access ou abonnement)
29. Molina Calistro L, Arancibia Y, Alarcón J, Torres RF. The Ca(2+) Bridge: From Neurons to Circuits in Rett Syndrome. Int J Mol Sci. 2025; 26(21).
Rett syndrome (RTT) is a severe neurodevelopmental disorder caused primarily by mutations in the gene encoding the methyl-CpG-binding protein 2 (Mecp2). Mecp2 binds to methylated cytosines, playing a crucial role in chromatin organization and transcriptional regulation. At the neurobiological level, RTT is characterized by dendritic spine dysgenesis and altered excitation-inhibition balance, drawing attention to the mechanisms that scale from mutations in a nuclear protein to altered neuronal connectivity. Although Mecp2 dysfunction disrupts multiple neuronal processes, emerging evidence highlights altered calcium (Ca(2+)) signaling as a central contributor to RTT pathophysiology. This review explores the link between Mecp2 and Ca(2+) regulation by highlighting how Mecp2 affects Ca(2+)-dependent transcriptional pathways, while Ca(2+) modulates Mecp2 function by inducing post-translational modifications. We discuss this crosstalk in light of evidence from RTT models, with a particular focus on the brain-derived neurotrophic factor BDNF-miR132-Mecp2 axis and the dysregulation of ryanodine receptors (RyRs). Additionally, we examine how these perturbations contribute to the reduced structural plasticity and the altered activity-driven gene expression that characterizes RTT. Understanding the intersection between Mecp2 function and Ca(2+) homeostasis will provide critical insights into RTT pathogenesis and potential therapeutic targets aimed at restoring neuronal connectivity.
Lien vers le texte intégral (Open Access ou abonnement)
30. Nair KS, Hedger N, George RL, Chandra G, Mohanakumar KP, Chakrabarti B, Rajamma U. Eye tracking demonstrates the influence of autistic traits on social attention in a community sample from India. Sci Rep. 2025; 15(1): 37552.
The ability to attend to social stimuli is fundamental for processing social cues and shaping social behavior, yet cultural variability in this capacity remains relatively unexplored. Social attention is typically tested using preferential-looking paradigms in labs, which have demonstrated that autistic individuals attend less to social stimuli. Such studies are limited, by the fact that they have almost all been conducted in Western Europe and the USA. To address this gap, our objective was to test the cultural generalizability of these results by investigating whether autistic symptoms are negatively associated with social attention in a traditionally understudied sample: Indian adults. Additionally, we tested the specificity of this relation by investigating whether a similar association exists with the traits of attention-deficit/hyperactivity disorder (ADHD). Our study involved 121 young adults from Kerala, India. Autistic and ADHD traits were evaluated using the Autism Spectrum Quotient (AQ) and Adult ADHD Self-Report Scale (ASRS), respectively. The participants’ gaze behavior was recorded during a preferential-looking task, where pairs of social and non-social images were presented simultaneously. Individuals with higher autistic traits exhibited a reduced preference for social stimuli. No such association of social attention was noted with ADHD traits. Follow-up analysis of AQ subscales indicated that the association between gaze duration and autistic traits was driven by the social, and not the attention to detail factor of autistic traits. Our results provide new evidence for the cultural generalizability of the social attention task and offer the potential for culture-agnostic phenotypic assessments for adults with autism.
Lien vers le texte intégral (Open Access ou abonnement)
31. Paditz E, Renner B, Koch R, Schneider BM, Schlarb AA. Reply to Gringras et al. Comment on « Paditz et al. The Pharmacokinetics, Dosage, Preparation Forms, and Efficacy of Orally Administered Melatonin for Non-Organic Sleep Disorders in Autism Spectrum Disorder During Childhood and Adolescence: A Systematic Review. Children 2025, 12, 648 ». Children (Basel). 2025; 12(10).
We sincerely thank Drs […].
Lien vers le texte intégral (Open Access ou abonnement)
32. Paengkumhag C, Limpornchitwilai W, Supaluk S, Chamnongthai K, Kaewkamnerdpong B. Enhancing ADL skill acquisition in children with ASD through a personalized, fuzzy logic-based tablet game: a pilot study. Sci Rep. 2025; 15(1): 37691.
Children with autism spectrum disorder (ASD) often experience challenges in performing Activities of Daily Living (ADLs), especially when tasks are complex and require the integration of cognitive, psychological, and motor skills. These difficulties are commonly linked to symptom severity, limited opportunities for practice, and lack of access to adaptive learning tools. To address these needs, we developed a Fuzzy logic-based tablet game that delivers a personalized learning experience tailored to each child’s performance. The game simulates a typical daily routine through six real-life contexts: Home, School, Canteen, Playground, Transportation, and Shopping. A Fuzzy expert system dynamically adjusts the learning path, providing a just-right challenge aligned with the learner’s ability level. This study was conducted using a one-group pre- and post-test design with 16 ASD children over a 4-week intervention period. Results showed significant improvement in ADL after gameplay (Wilcoxon Signed-Rank Test, [Formula: see text]), with the greatest gains observed in the « canteen » context ([Formula: see text]). Based on in-game performance, participants were classified into fast, moderate, and slow learning groups; all of which demonstrated positive learning trajectories over time, as measured by task accuracy and completion time. Further analysis using Spearman’s rank correlation revealed a strong relationship ([Formula: see text]) between in-game reward metrics and teachers’ assessments of learning behavior, supporting the game’s validity as a learning tool. These findings suggest that the Fuzzy logic-based adaptive game is both effective and feasible for enhancing learning for children with autism. Its ability to personalize learning in real time offers a promising strategy for promoting functional independence.
Lien vers le texte intégral (Open Access ou abonnement)
33. Petersson-Bloom L, Hansson E. A Systematic Research Review on Teachers’ Self-Efficacy in Educating Autistic Students. Autism Dev Lang Impair. 2025; 10: 23969415251392318.
BACKGROUND AND AIM: Ensuring equitable education for all students, including those with autism, is a core international commitment. The OECD (2018) defines equitable education as providing equal learning opportunities through responsive support tailored to individual needs. From this perspective, inclusive education involves both rights-based and needs-based approaches and emphasizes the importance of quality and adaptability in educational provision. Teachers’ self-efficacy-their perceived confidence and belief in their ability to teach and support autistic students-is a critical factor in achieving these aims. However, despite growing commitments to inclusion, challenges are frequently reported not only by teachers, but also by parents and autistic students, including feelings of exclusion, misunderstanding, and inadequate support within educational settings. This review aims to synthesize existing research on teachers’ self-efficacy in educating autistic students, identify influencing factors, assess methodological approaches, and outline future directions. METHODS: A mixed-methods systematic review was conducted using a convergent integrated design. Qualitative, quantitative, and mixed-methods studies were synthesized. Searches were carried out in four databases: PsycInfo, ERIC, Education Source, and SCOPUS. Study quality was assessed using the Mixed Methods Appraisal Tool (MMAT; Hong et al., 2018), and the review followed PRISMA guidelines. MAIN CONTRIBUTION: Fifty-seven studies were included. Findings indicate that although many teachers are willing to support autistic students, their self-efficacy is often undermined by limited professional development, structural barriers, and insufficient support. Key facilitators include sustained, practice-oriented professional development and supportive leadership. However, the predominance of self-report methods limits understanding of how self-efficacy translates into classroom practice. CONCLUSIONS: Teacher self-efficacy is shaped by both systemic conditions and individual perceptions of the ability to meet diverse student needs. Strengthening self-efficacy is essential to advancing equitable education for autistic students.
Lien vers le texte intégral (Open Access ou abonnement)
34. Poulizac M, Maruani A, Delepierre M, Vergnon A, Bourgeron T, Musette P, Delorme R. Bridging the gap in autism care: A qualitative analysis of policies, practices, and family experiences. Public Health. 2025; 249: 106012.
OBJECTIVES: France has significantly expanded its provision of care and services for autistic children over the past decade. Yet, there is little research on families’ experiences accessing these services, particularly for the most socially vulnerable. This study investigates autism care pathways in France, focusing on how a Centre of excellence for autism located in a socially disadvantaged area, impact families. STUDY DESIGN: Qualitative research with semi-structured interviews. METHODS: Following fieldwork to describe the practices of healthcare professionals involved in the care of autistic children in the environment of the Centre d’excellence, located in the Robert Debré University Hospital in Paris, we conducted semi-structured interviews with 31 families followed at the Centre d’excellence. We analyzed the data using reflexive thematic analysis. RESULTS: The findings reveal persistent gaps between national policies and the realities experienced by the most vulnerable families. While excellence centres improve diagnostic accuracy and promote innovative interventions, they often seem distant from local practices. Many families experience delays in receiving diagnoses and struggle to navigate the care system due to administrative and financial barriers. The study identifies four family coping profiles, ranging from well-informed to disconnected families, illustrating how social backgrounds shape engagement with autism services. CONCLUSIONS: The research underscores the importance of parental guidance and trust-building to reduce disparities in access and improve outcomes for children with autism.
Lien vers le texte intégral (Open Access ou abonnement)
35. Pullano V, Rondot F, Carelli I, Trajkova S, Carestiato S, Cardaropoli S, Carli D, Biamino E, Sirchia F, Reynolds G, Keller R, Shukarova-Angelovska E, Ferrero GB, Brusco A, Mussa A. Expanding Clinical and Genetic Landscape of SATB2-Associated Syndrome. Genes (Basel). 2025; 16(10).
BACKGROUND: SATB2-associated syndrome (SAS), also known as Glass syndrome, is a neurodevelopmental disorder (NDD) characterized by intellectual disability, developmental delay, absent or limited speech, and distinctive craniofacial and dental anomalies. It is caused by autosomal dominant pathogenic variants in the SATB2 gene, which plays a crucial role in brain, dental, and jaw development. Due to its variable phenotype, clinical diagnosis can be challenging, necessitating genetic confirmation. METHODS: We present six new cases of SAS with SATB2 germline variants identified through next generation sequencing (NGS) technologies, expanding the known genetic and clinical spectrum of the syndrome. Detailed clinical phenotyping was performed for all patients. RESULTS: Our cohort exhibits a broad range of clinical manifestations consistent with SAS, encompassing severe intellectual disability, profound speech delay, various palatal and dental abnormalities. We report the oldest adult patient (56 years old) carrying an in-frame duplication, and a pediatric patient with a missense variant who presented a significant reduction in visual acuity, likely of neurological or cortical origin, in the absence of ophthalmological abnormalities. SATB2 variants include three missenses, two in-frame deletion/duplication and one frameshift variant, several of which are novel and classified as likely pathogenic or pathogenic according to ACMG guidelines. CONCLUSIONS: This report provides new clinical and genetic insights into the landscape of SAS. Our findings confirm the phenotypic heterogeneity of SAS and highlight the critical role of comprehensive genetic testing for accurate diagnosis in NDD patients.
Lien vers le texte intégral (Open Access ou abonnement)
36. Rajerison T, Desnavailles P, Zekriyazdi FS, Combalbert N. Dual process in moral decision making in autistic adults without intellectual disability: features and skills. Acta Psychol (Amst). 2025; 261: 105841.
OBJECTIVE: Dual thinking distinguishes between heuristic- and deliberate-led processes. Applied to general cognition, these processes are similar in autistic and neurotypical subjects. This study in the field of moral cognition aimed to compare the use of heuristic and deliberative moral decision-making in autistic adults and neurotypical adults, both without intellectual disability (ID). METHOD: Sixty-one adults (30 autistic, 31 neurotypical; mean age = 39.2 years) without intellectual disability completed six moral dilemmas (Heinz, trolley, footbridge, collision, obstacle, crying baby) under heuristic (immediate response) and deliberative conditions (20-second reflection time). Moral judgments (acceptance, blame, punishment) and justifications were collected. Group comparisons used χ(2)/Fisher’s exact tests and Mann-Whitney tests, complemented by Bayesian analyses and ordinal logistic regression to strengthen inference and account for ordinal response distribution. RESULTS: Autistic adults and neurotypical adults mostly used the same heuristic and deliberative moral decision-making except for the heuristic in the Heinz dilemma. Estimation of moral action acceptability differed significantly between autistic and neurotypical subjects in the accidental action (collision) dilemma. The justifications proposed by the former differed significantly from those of the latter for certain dilemmas (Heinz, Trolley, footbridge and obstacle). CONCLUSION: Moral judgment in autistic adults is complex. For moral decisions that are identical to those of neurotypical people, the cognitive processing and the justifying arguments may differ depending on the context.
Lien vers le texte intégral (Open Access ou abonnement)
37. Roche-Martínez A, Ramírez-Mallafré A, Joga-Elvira L, Manso-Bazus C, Rubio-Roy M, Baena-Diez N. Personalized Follow Up and Genetic Diagnosis Update of FMR1-Related Conditions: A Change in Diagnosis, Prognosis and Expectations. Int J Mol Sci. 2025; 26(20).
Fragile X syndrome (FXS, OMIM#300624) is the most common inherited cause of X-linked intellectual disability and behavior difficulties. In 99% of cases, it is caused by the pathological expansion (>200 repeats, full mutation -FM) of the CGG trinucleotide located at the 5′ UTR of the FMR1 (Fragile X Messenger Ribonucleoprotein 1) gene, leading to the lack of production of the FMRP. Clinical manifestations are well known in boys but are sometimes overlooked in girls, who may remain underdiagnosed. Premutation (PM) populations (55-200 repeats) may present other medical issues, such as FXPOI or FXTAS. Mosaic conditions, such as a combination of PM and FM lines in the same patient, may lead to milder phenotypes. With the improvement of genetic testing, information regarding the exact number of CGG triplet repeats and methylation status could help explain milder phenotypes in patients who may produce some FMRP. Chromosome X preferential inactivation (XCI) in FXS women can also play a role in clinical severity. We present four non-related families who were followed up in our FXS clinic. Some of their members showed FM on Southern blot, but had milder symptoms than expected. To rule out size mosaicism, a RT-PCR was performed, giving a different and more consistent molecular diagnosis. When mosaicism was not present, methylation status was performed, excluding full methylation. For females, XCI showed preferential inactivation in one case. Revisiting old molecular diagnoses should be considered in clinical practice, especially for patients with a milder phenotype than expected from their molecular reports. This personalized follow up may change their former diagnosis, prognosis, and expectations.
Lien vers le texte intégral (Open Access ou abonnement)
38. Rowe M, Shergill S, Maitra R. The relationships between anxiety, psychotic-like experiences and autism: a systematic review. Front Psychol. 2025; 16: 1549886.
INTRODUCTION: Research has suggested that anxiety may be responsible for the elevated levels of psychotic-like experiences (PLEs) seen in Autism. However, there has been no previous systematic review examining this relationship. METHOD: We conducted three separate searches of PubMed and Ovid (MEDLINE, PsycINFO, Global Health and EMBASE) until 31st June 2024 for articles reporting on the association between anxiety, Autism and PLEs. A total of 54 articles were reviewed, including research exploring the links between anxiety and PLEs (28 studies), Autism and PLEs (12 studies), Autism and anxiety (14 systematic reviews and meta-analyses). RESULTS: Studies of Anxiety and PLEs: Thirteen reported a significant positive correlation, and ten studies indicated that individuals with anxiety were more likely to experience PLEs. Studies of Autism and PLEs: Seven identified a significant positive correlation, with three longitudinal studies reporting that autistic traits predicted PLEs. Studies of Autism and Anxiety: Seven reviews revealed increased prevalence rates of anxiety disorders among autistic individuals, while 9 identified potential mediators of this relationship, such as intolerance of uncertainty and IQ. CONCLUSIONS: These findings demonstrate the association of PLEs with Autism and anxiety disorders, suggesting that co-occurring Autism and anxiety may represent an at-risk group for psychosis. Such insights have important implications for psychosis prevention, indicating that anxiety intervention in autistic populations may reduce PLE incidence. However, application of these findings to autistic individuals is significantly limited by the lack of included studies utilizing clinical populations. Future research is needed to establish the causal role of anxiety in this relationship, particularly using clinical adult samples. SYSTEMATIC REVIEW REGISTRATION: https://www.crd.york.ac.uk/PROSPERO/view/CRD42024555930.
Lien vers le texte intégral (Open Access ou abonnement)
39. Silva NI, Sabadini G, Cabezas D, González C, González P, Luo J, Salas CO, Mellado M, Lorca M, Romero-Parra J, Mella J. Structure-Guided Discovery of Benzoic-Acid-Based TRPC6 Ligands: An Integrated Docking, MD, and MM-GBSA SAR Study: Potential Therapeutic Molecules for Autism Spectrum Disorder. Pharmaceuticals (Basel). 2025; 18(10).
Background: TRPC6 is recognized as a therapeutically relevant cation channel, whose activation is governed by specific ligand-pocket interactions. Methods: An integrated in silico workflow was employed, comprising structure-based docking, 100-nanosecond molecular dynamics (MD) simulations, and MM-GBSA calculations. Benzoic-acid-based compounds were designed and prioritized for binding to the TRPC6 pocket, using a known literature agonist as a reference for benchmarking. Results: Within the compound series, BT11 was found to exhibit a representative interaction profile, characterized by a key hydrogen bond with Trp680 (~64% occupancy), persistent salt-bridge interactions with Lys676 and Lys698, and π-π stacking with Phe675 and Phe679. A favorable docking score (-11.45 kcal/mol) was obtained for BT11, along with a lower complex RMSD during MD simulations (0.6-4.8 Å), compared with the reference compound (0.8-7.2 Å). A reduction in solvent-accessible surface area (SASA) after ~60 ns was also observed, suggesting decreased water penetration. The most favorable binding energy was predicted for BT11 by MM-GBSA (-67.72 kcal/mol), while SOH95 also ranked highly and slightly outperformed the reference. Conclusions: These convergent computational analyses support the identification of benzoic-acid-derived chemotypes as potential TRPC6 ligands. Testable hypotheses are proposed, along with structure-activity relationship (SAR) guidelines, to inform experimental validation and guide the design of next-generation analogs.
Lien vers le texte intégral (Open Access ou abonnement)
40. Sturm KL, Semak D, Scheier ZA, Ramos RL, Otazu GH. Odor Experience Stabilizes Glomerular Output Representations in Two Mouse Models of Autism. eNeuro. 2025; 12(10).
Novel stimuli can be stressful for individuals with autism spectrum disorders (ASD), though repeated exposure can reduce this effect. In Cntnap2(-/-) and Shank3B(+/-) mouse models of ASD, novel background odors impaired behavioral target odor recognition but that deficit improved with training. To investigate the neural basis of this improvement, we used wide-field calcium imaging to measure olfactory bulb responses in Cntnap2(-/-) and Shank3B(+/-) mice and WT mice of either sex. Training with background odors enhanced both behavioral performance and neural discriminability of odor mixtures in both Cntnap2(-/-) and Shank3B(+/-) as well as WT mice. Naive Cntnap2(-/-) and Shank3B(+/-) mice showed greater trial-to-trial neural variability than WT mice, but training stabilized neural responses. Critically, training produced a widespread reduction in olfactory bulb responses to background odors in ASD models, but not in WT mice. Thus, despite similar behavioral improvements as WT mice, Cntnap2(-/-) and Shank3B(+/-) mice relied on a distinct broad suppression of background odor responses to enhance olfactory coding in the presence of background odors.
Lien vers le texte intégral (Open Access ou abonnement)
41. Su C, Hu Y, Liu Y, Zhang N, Tan L, Zhang S, Yi A, Xiao Y. Linking Connectivity Dynamics to Symptom Severity and Cognitive Abilities in Children with Autism Spectrum Disorder: An FNIRS Study. J Neurosci. 2025; 45(44).
Functional near-infrared spectroscopy (fNIRS) has emerged as a valuable tool for investigating neurobiological markers in children with autism spectrum disorder (ASD). While previous studies have identified abnormal functional connectivity in ASD children compared with typically developing (TD) peers, brain connectivity dynamics and their associations with autism symptoms and cognitive abilities remain underexplored. We analyzed fNIRS data from 44 children (30 boys, 21 ASD/23 TD) aged 2.08-6.67 years while they viewed a silent cartoon. Using sliding window correlation and k-means clustering, we assessed group differences in dynamic connectivity and the correlations with symptom severity and cognitive performance. Our results revealed that children with ASD showed reduced dwell time in a specific brain state and fewer state transitions compared with TD children. These atypical brain state patterns were negatively correlated with autism symptom severity and positively correlated with adaptive behavior and cognitive performance across participants. Mediation analysis revealed that adaptive behavior fully mediated the relationship between brain dynamics and cognitive performance. Furthermore, dynamic connectivity features achieved 74.4% accuracy in distinguishing ASD from TD children. Importantly, the link between brain dynamics and cognitive performance was replicated in an independent TD sample, underscoring the robustness of this finding. Together, these findings highlight altered brain dynamics in young children with ASD and underscore the critical role of adaptive behavior in bridging neural activity and cognitive performance. These insights advance our understanding of neural mechanisms underlying ASD and point to potential pathways for early interventions and clinical applications.
Lien vers le texte intégral (Open Access ou abonnement)
42. Suzuki D, Motomura E, Hisatomi K, Nakayama Y, Watanabe T, Okada M, Inui K. Paired Pulse Suppression and Prepulse Inhibition in Patients with Autism Spectrum Disorder and Attention Deficit Hyperactivity Disorder. Brain Sci. 2025; 15(10).
Objectives: We examined whether sensory inhibition was altered in patients with autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD) as deficits in the neural inhibition are considered to be involved in both disorders. Methods: By using auditory change-related brain potentials as the test response, paired pulse suppression (PPS) and prepulse inhibition (PPI) were compared among healthy controls (n = 57), patients with ASD (n = 22), and ADHD (n = 8). The test change-related response was elicited by an abrupt sound pressure increase in a continuous sound. In the PPS experiment, two 15 dB change stimuli were given 600 ms apart to elicit two change-related responses. In the PPI experiment, the test stimulus of a 10 dB increase and prepulse of a 2 dB increase were given with an interval of 50 ms. Evoked potentials were recorded from Cz referenced to the linked mastoids. Results: PPS differed significantly among the three groups, with a significantly lower value for ADHD than controls. PPI was significantly lower for ASD and ADHD than normal controls. Conclusions: Since these two measures are thought to represent changes in circuit excitability due to preceding stimuli via GABAergic transmission, the present results support the idea that dysfunction of the GABAergic system contributes to the etiology of these disorders. The present results showed that the pattern of dysfunction differed between the two disorders and suggest that measurements of inhibitory function may be able to differentiate between the two disorders.
Lien vers le texte intégral (Open Access ou abonnement)
43. Thomas SD, Mohammed HA, Hamad MIK, Oz M, Statsenko Y, Sadek B. The Emerging Role of Phosphodiesterase Inhibitors in Fragile X Syndrome and Autism Spectrum Disorder. Pharmaceuticals (Basel). 2025; 18(10).
Autism spectrum disorder (ASD) and Fragile X syndrome (FXS) are neurodevelopmental disorders marked by deficits in communication and social interaction, often accompanied by anxiety, seizures, and intellectual disability. FXS, the most common monogenic cause of ASD, results from silencing of the FMR1 gene and consequent loss of FMRP, a regulator of synaptic protein synthesis. Disruptions in cyclic nucleotide (cAMP and cGMP) signaling underlie both ASD and FXS contributing to impaired neurodevelopment, synaptic plasticity, learning, and memory. Notably, reduced cAMP levels have been observed in platelets, lymphoblastoid cell lines and neural cells from FXS patients as well as Fmr1 KO and dfmr1 Drosophila models, linking FMRP deficiency to impaired cAMP regulation. Phosphodiesterase (PDE) inhibitors, which prevent the breakdown of cAMP and cGMP, have emerged as promising therapeutic candidates due to their ability to modulate neuronal signaling. Several PDE isoforms-including PDE2A, PDE4D, and PDE10A-have been implicated in ASD, and FXS, as they regulate pathways involved in synaptic plasticity, cognition, and social behavior. Preclinical and clinical studies show that PDE inhibition modulates neuroplasticity, neurogenesis, and neuroinflammation, thereby ameliorating autism-related behaviors. BPN14770 (a PDE4 inhibitor) has shown promising efficacy in FXS patients while cilostazol, pentoxifylline, resveratrol, and luteolin have showed improvements in children with ASD. However, challenges such as isoform-specific targeting, optimal therapeutic window, and timing of intervention remain. Collectively, these findings highlight PDE inhibition as a novel therapeutic avenue with the potential to restore cognitive and socio-behavioral functions in ASD and FXS, for which effective targeted treatments remain unavailable.
Lien vers le texte intégral (Open Access ou abonnement)
44. Tınkır Kayıtmazbatır E, Güler HA, Acar Duyan Ş, Bozkurt Oflaz A, Bozkurt B. Visual Health in Autism Spectrum Disorder: Screening Outcomes, Clinical Associations, and Service Gaps. Medicina (Kaunas). 2025; 61(10).
Background and Objectives: Children with autism spectrum disorder (ASD) often experience visual problems, yet their ophthalmic health remains underexplored due to testability challenges and limited-service access. This study evaluated ophthalmic screening outcomes in children with ASD and examined whether autism severity influenced ocular findings or cooperation during examinations. Materials and Methods: This cross-sectional study included 210 children with ASD (mean age 8.18 ± 4.99 years; 83.3% male). Examinations were conducted in an autism education center using non-contact methods: stereopsis (LANG I stereotest; LANG-STEREOTEST AG, Küsnacht, Switzerland), cover-uncover, and Hirschberg tests for strabismus, Spot Vision Screener (Welch Allyn Inc., Skaneateles Falls, NY, USA) for refractive errors, and Brückner test for red reflex. Autism severity was assessed with the Turkish version of the Adapted Autism Behavior Checklist (AABC). Results: Refractive errors were identified in 22.3% of participants: astigmatism in 15.2%, myopia in 5.2% (including 3 high myopia), and hyperopia in 1.9%. Strabismus was present in 11.9%, most commonly intermittent exotropia. Nearly half (49.5%) could not complete stereopsis testing, and a weak positive correlation was observed between AABC scores and the higher absolute spherical equivalent (SE) value between the two eyes (r = 0.173, p = 0.044). Children unable to complete stereopsis testing had significantly higher AABC scores (22.66 ± 9.69 vs. 13.39 ± 9.41, p < 0.001). Notably, 50 children (23.8%) had never undergone an eye examination prior to this study. Conclusions: Ophthalmic findings, particularly astigmatism and strabismus, are common in children with ASD. Greater autism severity was associated with reduced testability and modestly worse refractive error status. These findings suggest that tailored, accessible eye-care approaches and systematic vision screening may help to reduce overlooked visual problems and support more equitable care for children with ASD.
Lien vers le texte intégral (Open Access ou abonnement)
45. Torices Callejo L, Herrero L, Pérez Nieto M. Anxiety and autistic traits in adults: a systematic review and meta-analysis. Front Psychol. 2025; 16: 1680267.
BACKGROUND: Autistic traits are distributed along a continuum, and some individuals exhibit subclinical characteristics without meeting diagnostic criteria for autism spectrum disorder (ASD). This population, referred to as the broader autism phenotype (BAP), has been associated with increased prevalence of anxiety symptoms. Given that these individuals often do not access clinical services or receive interventions, understanding how anxiety manifests within this group is essential for improving psychological well-being and quality of life. Although research on autism and psychopathology has expanded in recent years, few studies have explored this relationship in adults with BAP from a dimensional and transdiagnostic perspective. OBJECTIVE: This study aimed to systematically review and synthesize recent empirical evidence on the relationship between autistic traits and anxiety symptoms in adults, and to assess whether this association is statistically significant. METHODS: A systematic search was conducted across four databases (PubMed, Web of Science, Scopus, Dialnet) for peer-reviewed articles published between 2013 and 2023. Studies were included if they used validated instruments to assess autistic traits (e.g., AQ, ADOS-2) and anxiety (e.g., HADS, STAI, GAD-7, BAI). A total of 18 independent samples from 13 studies were included. Effect sizes (Hedges’ g) were calculated and synthesized using a random-effects model. Heterogeneity and publication bias were also examined. RESULTS: Findings were mixed: 55% of the included studies reported positive effect sizes and 45% negative. However, the overall effect size was not statistically significant (g = 0.0234, SE = 0.235, 95% CI: -0.438 to 0.483, p = 0.921), with substantial heterogeneity across studies (I (2) = 99.83%). Larger studies tended to report positive associations, while smaller studies yielded negative or inconsistent effects. Inconsistencies in measurement tools, particularly across AQ versions, contributed to this variability. CONCLUSION: Although a significant association was not confirmed, the high heterogeneity highlights the need for more standardized approaches to evaluating autistic traits in non-clinical adult populations. These findings underscore the complexity of subclinical autism and support the relevance of transdiagnostic research frameworks to better understand its relationship with anxiety.
Lien vers le texte intégral (Open Access ou abonnement)
46. Trifonova EA, Pashchenko AA, Ivanov RA, Kochetov AV, Lashin SA. Genetic and Pathogenic Overlaps Between Autism Spectrum Disorder and Alzheimer’s Disease: Evolutionary Features and Opportunities for Drug Repurposing. Int J Mol Sci. 2025; 26(20).
Autism spectrum disorder (ASD) and Alzheimer’s disease (AD) are neurodevelopmental and neurodegenerative disorders, respectively. While exome sequencing is routinely employed during the early stages of ASD diagnosis, it rarely influences therapeutic strategies. To address this gap, we have reconstructed and analyzed the gene networks linking autism spectrum disorders, Alzheimer’s disease, and mTOR signaling. In addition, we have performed a phylostratigraphic analysis that reveals similarities and differences in the evolution of both ASD and Alzheimer’s disease predisposition genes. We have shown that almost half of the genes predisposing to autism and two-fifths of the genes predisposing to Alzheimer’s disease are directly related to the mTOR signaling pathway. Analysis of Phylostratigraphic Age Index (PAI) value distributions revealed a significant enrichment of evolutionarily ancient genes in both ASD- and AD-related gene sets. When studying the distribution of ASD predisposition genes by Divergence Index (DI) values, a significant enrichment with genes having extremely low DI = 0 has been found. Such low DI values indicate that most likely these genes are under stabilizing selection. Using the ANDVisio tool, both pharmacological and natural mTOR regulators with potential for ASD treatment were selected, such as propofol, dexamethasone, celecoxib, statins, berberine, resveratrol, quercetin, myricetin, mio-inositol, and several amino acids.
Lien vers le texte intégral (Open Access ou abonnement)
47. Ugartemendia-Yerobi M, Pereda-Goikoetxea B, Trespaderne MI, Lacalle J. Tools for Detecting Ageing in People with Autism Spectrum Disorder: A Scoping Review. Healthcare (Basel). 2025; 13(20).
BACKGROUND: People with Autism Spectrum Disorder (ASD) require a customised, multidisciplinary plan throughout their lifetime to support optimal health. The purpose of this scoping review was to synthesise research on the main scales used to detect signs of ageing in people with ASD. METHODS: Eligible papers published between January 2003 and August 2025 were identified through searches of PubMed, PsycInfo, Scopus, Web of Science, NICE and Cochrane databases. The assessment was performed using the Joanna Briggs Institute critical appraisal and extraction checklist. Of the 820 papers reviewed, 24 were found to meet the established criteria. RESULTS: Based on the evidence collected, 57 tools focusing on specific domains within the Comprehensive Geriatric Assessment were identified: 19 addressed the functional domain, 18 the mental, 6 the biomedical, 1 the social, 2 related to frailty, 1 to fall risk, and 10 to quality of life. CONCLUSIONS: This review highlights the need to obtain a ‘multi-domain’ tool for the detection of ageing in autistic people, which would facilitate the development of a Comprehensive Geriatric Assessment that makes planning customised care possible.
Lien vers le texte intégral (Open Access ou abonnement)
48. Verity L, Stewart S, Houghton S, Qualter P, Macqueen L, Hunter S. Loneliness from the Perspective of Young People with Autism and/or ADHD: A Thematic Analysis of Adolescents’ Experiences and Understanding. Children (Basel). 2025; 12(10).
Background/Objectives: Loneliness is a common experience in adolescence, typically centered around difficulties in relationships with same-age peers and friends. It is often assumed that those diagnosed with autism and/or Attention-Deficit/Hyperactivity Disorder (ADHD) are at greater risk of loneliness than their non-diagnosed peers due to documented difficulties in making and maintaining friendships. Although quantitative research on loneliness and autism exists, there remains a notable gap in studies that explore the lived experiences of loneliness from the perspective of adolescents diagnosed with autism and ADHD, particularly in relation to their peers/or peers’ experiences. Method: To address this gap in the literature, 10 focus groups were conducted with adolescents diagnosed with autism and/or ADHD to discuss their experiences of loneliness. Results: Overall, young people with autism and ADHD did not consider loneliness to be a greater issue for them compared to their neurotypical peers. Six themes with five subthemes were developed through thematic analysis of the interview data: « not feeling like you belong when socializing », « being alone can be a good thing but not when it’s not your choice », « social media can be a good thing, but it’s not as good as in real life », « not having anyone you can rely on to support you through tough times », « school support can bring young people together », and « sometimes it’s good to be distracted from negative thinking ». Conclusions: Although these themes are comparable to those emerging from research with non-autistic and non-ADHD youth, the importance of quality relationships with friends who provided support with daily functioning was viewed differently.
Lien vers le texte intégral (Open Access ou abonnement)
49. Yin Z, Xu F, Ma Y, Huang S, Ren K, Zhang L. MAMVCL: Multi-Atlas Guided Multi-View Contrast Learning for Autism Spectrum Disorder Classification. Brain Sci. 2025; 15(10).
BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by significant neurological plasticity in early childhood, where timely interventions like behavioral therapy, language training, and social skills development can mitigate symptoms. Contributions: We introduce a novel Multi-Atlas Guided Multi-View Contrast Learning (MAMVCL) framework for ASD classification, leveraging functional connectivity (FC) matrices from multiple brain atlases to enhance diagnostic accuracy. METHODOLOGY: The MAMVCL framework integrates imaging and phenotypic data through a population graph, where node features derive from imaging data, edge indices are based on similarity scoring matrices, and edge weights reflect phenotypic similarities. Graph convolution extracts global field-of-view features. Concurrently, a Target-aware attention aggregator processes FC matrices to capture high-order brain region dependencies, yielding local field-of-view features. To ensure consistency in subject characteristics, we employ a graph contrastive learning strategy that aligns global and local feature representations. RESULTS: Experimental results on the ABIDE-I dataset demonstrate that our model achieves an accuracy of 85.71%, outperforming most existing methods and confirming its effectiveness. IMPLICATIONS: The proposed model demonstrates superior performance in ASD classification, highlighting the potential of multi-atlas and multi-view learning for improving diagnostic precision and supporting early intervention strategies.
Lien vers le texte intégral (Open Access ou abonnement)
50. Zhao S, Zhang M, Luo T, Li L, Jiang Y, Situ M, Huang Y. Glymphatic system dysfunction in children with autism spectrum disorder as evidenced by the diffusion tensor imaging along perivascular spaces index. Front Psychiatry. 2025; 16: 1701816.
INTRODUCTION: This study aims to evaluate glymphatic system function in autism spectrum disorder (ASD) by employing diffusion tensor imaging along perivascular spaces (DTI-ALPS), and investigate its relationship with visual-motor integration (VMI) function. MATERIALS AND METHODS: A total of 78 individuals with ASD and 48 typically developing (TD) children were enrolled. All participants underwent diffusion tensor imaging on a 3-T MRI scanner. The DTI-ALPS index was calculated, and data on IQ and VMI function were obtained. Independent-samples t-test was used to compare the DTI-ALPS index between groups. Correlation analysis was conducted to examine the relationships between the DTI-ALPS index and clinical variables, including core symptoms, within the ASD group. Mediation analysis explored the relationship among the DTI-ALPS index, core symptoms, and VMI function. RESULTS: Compared to the TD group, ASD patients showed significantly reduced DTI-ALPS indices in the left hemisphere (DTI-ALPS-L), right hemisphere (DTI-ALPS-R), and for the whole-brain mean (Mean DTI-ALPS). In the ASD group, these indices were negatively correlated with the Autism Diagnostic Interview-Revised (ADI_R) communication score but positively correlated to the VMI score. Mediation analysis revealed that the VMI score significantly mediated the relationship between DTI-ALPS-R and the ADI_R communication score (indirect effect β = -0.082, p< 0.001). CONCLUSIONS: Our preliminary findings indicate impaired glymphatic system function in ASD, which may contribute to its pathogenesis. Furthermore, VMI function mediates the relationship between altered glymphatic system function and communication deficits in ASD.