1. Akhtar A, Rahaman SKB. The Interplay of Oxidative Stress, Mitochondrial Dysfunction, and Neuroinflammation in Autism Spectrum Disorder: Behavioral Implications and Therapeutic Strategies. Brain Sci;2025 (Aug 11);15(8)

Autism spectrum disorder (ASD) deals with several symptoms, including language and speech impairment and developmental delays. The main brain regions affected could be the prefrontal cortex (PFC) or the temporal lobe. The detrimental features could include oxidative stress, mitochondrial dysfunction, and neuroinflammation. Most often, these phenomena are interrelated and can lead to one another, creating a vicious cycle. They also influence the regulation of certain genes involved in the pathogenesis of ASD or related behavior. In the brain regions prone to these detrimental features, a cascade of free radicals, inflammatory cytokines, and mitochondrial energy disruptions is initiated. These actions during the prenatal or developmental stage of the child potentially lead to ASD symptomatic features, such as social isolation, communication difficulty, speech and language impairment, cognitive dysfunction, and intellectual disability. The more recent theories, including genetics, epigenetics, and the gut-brain axis, have been demonstrated to play a greater role in ASD pathology, often being associated with the more common ones as mentioned above. We also introduced some of the neurological disorders possessing shared genetic and behavioral traits with ASD. Many genes playing a role in ASD-like features and their potential targeted drugs were explained briefly. However, there are limited therapeutic options, and molecular pathways related to this disorder are less explored. Currently, researchers and therapists are racing to uncover a concrete remedy. This review also provides a brief outline of potential antioxidant, mitochondrial, and anti-inflammatory therapies. We finally included some novel strategies to diagnose and manage autistic pathology and symptoms.

Lien vers le texte intégral (Open Access ou abonnement)

2. Alexandrovsky M, Frayne M, Lai MC. What is autism? Identity in jeopardy and the collaborative way ahead. Autism;2025 (Aug 30):13623613251371485.

Lien vers le texte intégral (Open Access ou abonnement)

3. Allard J, Henley W, McLean B, Watkins L, Parrett M, Rajakulendran S, Maguire M, Ellawela S, Tittensor P, Bransgrove J, Sen A, Mohanraj R, Bagary M, Ram S, Pashley S, Shankar R. Levetiracetam in epilepsy and autism spectrum disorder: analysis of safety, tolerability, and efficacy. Epilepsy Behav;2025 (Aug 28);172:110678.

PURPOSE: One in five people with autism spectrum disorder have epilepsy and take Anti-Seizure Medications (ASM). However, the impact of ASM on people with autism is under researched. This study evaluates the efficacy and tolerability of Levetiracetam (LEV) for autistic people and epilepsy. METHOD: Data was derived from the English Epilepsy Research Database Register which compares ASM responses in those with neurodevelopmental disorders to those without. Age range was 18-50 years as there were no autistic research participants with autism prescribed LEV over 50. Twelve-month ASM data, including withdrawal rate, seizure frequency and adverse effects were compared. Fisher’s exact test was used to assess univariate associations between outcomes and autism with significance accepted as p < 0.05. Logistic regression was used to assess autism group differences after adjustment for potential confounders (age, gender, presence of baseline physical and mental health conditions). RESULTS: Of 175 (aged 18-50) research participants across 18 NHS Trusts, prescribed LEV between 2000 and 2020, 40 were autistic. There was no significant association between withdrawal rate (P = 0.626), or grouped side effects (physical P = 0.165, mental health P = 0.791). Autism was significantly associated with aggression with LEV in univariable analysis but this association was no longer significant after accounting for multiple testing A significant non-linear relationship between efficacy and the autism group (P < 0.001) was found. CONCLUSIONS: This study supports the use of LEV for people with autism and epilepsy as there is no difference in response noted to those without autism. However, they may have less prominent changes in efficacy.

Lien vers le texte intégral (Open Access ou abonnement)

4. Alshamsi MA, Al Teneiji MT, Kar SS, Dube R. Exploring the Association Between Glucose-6-Phosphate Dehydrogenase Deficiency and Autism Spectrum Disorder: A Narrative Review. Children (Basel);2025 (Aug 11);12(8)

Autism spectrum disorder (ASD) is a complex neurodevelopmental disease of multifactorial etiologies, manifesting as persistent challenges in social interactions, restrictive interests, and repetitive behaviors. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzymopathy affecting red blood cell function. Although G6PD enzyme deficiency is known for its role in hemolytic anemia, emerging studies have suggested a potential association between G6PD deficiency and neurodegenerative and neurodevelopmental disorders, including autism. This narrative review explores the possible connection between G6PD deficiency and autism by analyzing relevant literature from the PubMed and Scopus databases. Current evidence points to plausible biological links, particularly oxidative stress and folate metabolism, warranting further investigation into G6PD deficiency as a potential risk modifier in ASD. Moreover, further research is necessary to elucidate the nature of this relationship and its implications for clinical practice.

Lien vers le texte intégral (Open Access ou abonnement)

5. Amate JJS, Luque de la Rosa A, Tadeu P. Educational Discrimination and Challenges of Inclusion During the Pandemic: The Case of Students with Autism Spectrum Disorder (ASD) from an International Perspective. Brain Sci;2025 (Aug 8);15(8)

Background: The COVID-19 pandemic exposed the fragility of educational systems in ensuring inclusive schooling, especially for students with Autism Spectrum Disorder (ASD). Disruptions to daily routines, the shift to remote learning, and the suspension of specialized services intensified pre-existing inequalities and affected the educational continuity and well-being of this group. Methods: This narrative review analyzes the educational discrimination experienced by students with ASD during the pandemic. A structured search was conducted across databases including Scopus, Web of Science, PubMed, ERIC, Dialnet, and Google Scholar. Sixteen empirical studies published between 2020 and 2024 were selected based on criteria such as open access, focus on compulsory education, and direct analysis of pandemic-related exclusion. Results: The findings reveal four key challenges: unequal access to digital resources, the interruption of support services, increased family burden, and limited institutional responses. These factors contributed to emotional distress, regression in skills, and reduced participation in educational and social settings. Conclusions: The review concludes that the pandemic acted as a magnifying glass for structural barriers already present in inclusive education. Moving forward, educational systems must develop flexible, sustainable, and equity-oriented frameworks to ensure that students with ASD are not left behind during future crises.

Lien vers le texte intégral (Open Access ou abonnement)

6. Andreou G, Argatzopoulou A. Investigating Foreign Language Vocabulary Recognition in Children with ADHD and Autism with the Use of Eye Tracking Technology. Brain Sci;2025 (Aug 18);15(8)

BACKGROUND: Neurodivergent students, including those with Autism Spectrum Disorder (ASD) and Attention Deficit/Hyperactivity Disorder (ADHD), frequently encounter challenges in several areas of foreign language (FL) learning, including vocabulary acquisition. This exploratory study aimed to investigate real-time English as a Foreign Language (EFL) word recognition using eye tracking within the Visual World Paradigm (VWP). Specifically, it examined whether gaze patterns could serve as indicators of successful word recognition, how these patterns varied across three distractor types (semantic, phonological, unrelated), and whether age and vocabulary knowledge influenced visual attention during word processing. METHODS: Eye-tracking data were collected from 17 children aged 6-10 years with ADHD or ASD while they completed EFL word recognition tasks. Analyses focused on gaze metrics across target and distractor images to identify percentile-based thresholds as potential data-driven markers of recognition. Group differences (ADHD vs. ASD) and the roles of age and vocabulary knowledge were also examined. RESULTS: Children with ADHD exhibited increased fixations on phonological distractors, indicating higher susceptibility to interference, whereas children with ASD demonstrated more distributed attention, often attracted by semantic cues. Older participants and those with higher vocabulary scores showed more efficient gaze behavior, characterized by increased fixations on target images, greater attention to relevant stimuli, and reduced attention to distractors. CONCLUSIONS: Percentile-based thresholds in gaze metrics may provide useful markers of word recognition in neurodivergent learners. Findings underscore the importance of differentiated instructional strategies in EFL education for children with ADHD and ASD. The study further supports the integration of eye tracking with behavioral assessments to advance understanding of language processing in atypical developmental contexts.

Lien vers le texte intégral (Open Access ou abonnement)

7. Archer J, Goh S, Miteff C, O’Donnell S, Park K, Goel H. CRELD1-Associated Neurodevelopmental Disorder: Three New Individuals from Unrelated Families. Genes (Basel);2025 (Aug 18);16(8)

Background:CRELD1 encodes a cell adhesion molecule initially implicated in atrioventricular septal defects (AVSDs). More recently, biallelic CRELD1 variants have been associated with syndromic and non-syndromic neurodevelopmental disorders (NDDs). Methods: We describe three individuals from unrelated families with compound heterozygous CRELD1 variants, identified through exome sequencing. Clinical and genetic data were reviewed to delineate shared and divergent features. Results: All three patients presented with developmental delay, intellectual disability, seizures, hypotonia, and dysmorphic facial features. Patient 1 and patient 2 carried a recurrent variant combination previously reported in five individuals, while Patient 3 harboured the recurrent frameshift p.(Gln320Argfs*25) variant in trans with a novel missense variant. The milder clinical course of patient 3 highlights phenotypic heterogeneity. Notably, none of the patients had cardiac anomalies or immunological abnormalities, further expanding the clinical spectrum associated with CRELD1. Conclusion: Our findings reinforce genotype-phenotype correlations and provide additional evidence that biallelic CRELD1 variants underlie a distinct autosomal recessive neurodevelopmental disorder, broadening both the phenotypic and genetic spectrum of this emerging syndrome.

Lien vers le texte intégral (Open Access ou abonnement)

8. Bloomer BF, Bolbecker AR, Gildea EL, Kennedy DP, Wisner KM, O’Donnell BF, Hetrick WP. Postural sway dynamics in adults across the autism spectrum: a multifactor approach. Mol Autism;2025 (Aug 28);16(1):44.

BACKGROUND: Motor challenges are highly prevalent within autism, and increased postural sway has been consistently demonstrated in autistic youth. However, the extent to which sway anomalies extend into adulthood remains understudied. This study aimed to investigate whether increased postural sway is altered in autistic adults compared to neurotypical controls using established sway metrics including sway area and path, as well as rambling-trembling decomposition—an approach that differentiates the postural sway signal into central and peripheral nervous system components. METHODS: 49 adults with autism spectrum conditions (ASC) and 94 neurotypical controls (NC) participated in a postural sway task on a force platform with manipulations of visual input and stance width. Traditional geometric methods (sway area and path), the spatial characteristics of the body’s adjustment to maintain balance, were measured. As resulting sway measures often covary, multiple factor analysis (MFA) was applied to reduce the measures into distinct, non-redundant dimensions that simplified the data. Group comparisons were completed across these different levels of analysis. RESULTS: We observed increased sway path and medio-lateral trembling in ASC compared to NC (p < 0.05). Significant group by vision interactions revealed that ASC sway increases were more apparent in eyes-open conditions for sway area and rambling and trembling in the anterior-posterior plane (p < 0.01), possibly suggesting differential sensory reweighting of visual input by ASC, or difficulties with multisensory integration. MFA revealed two key dimensions. A fast frequency dimension, linked to peripheral processes, explained most of the overall variance (62.9%) and captured more variance in the ASC group than in NC. A slower frequency dimension, linked to central processes, explained 8.0% of the variance. LIMITATIONS: Order of sway conditions was consistent among all participants, so it is possible that participant fatigue influenced later sway conditions. CONCLUSIONS: Building upon previous research finding increased postural sway in autism, we found that combining multiple approaches collectively suggest the critical role of peripheral contributions and visual input in postural sway in autism. Fast-frequency processes that are peripherally-driven may be of particular importance in sway in autistic adults, and should be prioritized in future research to better understand balance performance in autism. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s13229-025-00676-y.

Lien vers le texte intégral (Open Access ou abonnement)

9. Castro K, Riesgo R, Gadia C. Autism spectrum disorder: overdiagnosis or are we facing a new pandemic?. J Pediatr (Rio J);2025 (Aug 30):101439.

OBJECTIVE: To critically analyze the factors influencing prevalence estimates of Autism Spectrum Disorder (ASD), considering methodological, clinical, etiological, and sociocultural determinants that shape epidemiological data and diagnostic practices. DATA SYNTHESIS: In recent decades, a substantial increase in ASD prevalence has been observed globally. This phenomenon is shaped by a combination of factors, including changes in diagnostic criteria, improved detection methods, expanded access to health services, and greater public awareness. However, it also raises concerns about possible overdiagnosis, particularly in complex clinical contexts. The interpretation of prevalence data is influenced by methodological designs, population characteristics, and sociocultural dynamics. SUMMARY OF THE FINDINGS: The absence of biological markers, the high rate of psychiatric comorbidities, and disparities in access to qualified professionals further complicate the diagnostic process. These elements highlight the need for caution when comparing data across studies, time periods, or geographic regions. CONCLUSION: The ASD prevalence reflects a multifaceted process that demands careful and comprehensive interpretation. A deeper understanding of this scenario requires critical reflection on how diagnoses are established, interpreted, and applied. Strengthening diagnostic practices and epidemiological approaches is essential to ensure more accurate data and support informed decision-making in health policies.

Lien vers le texte intégral (Open Access ou abonnement)

10. Cho B, Kim H, An S, Hwang Y, Kwon D, Park J, Lengner CJ, Kim J. Aberrant neural stem cell quiescence is the gateway to autism development linked to Arid1b. Mol Psychiatry;2025 (Aug 30)

Autism spectrum disorder is a neurodevelopmental disorder with social communication deficits, repetitive behaviors, and restricted interests. While previous studies have demonstrated a close link between aberrant neurogenesis and the development of autism, a fundamental question remains unresolved: Does the anomalous neurogenesis observed in autism serve as a causative factor, and if so, could restoring aberrant neurogenesis alleviate autistic behaviors? In this study, we demonstrate that the manifestation of autistic behaviors can be caused by the aberrant activity of quiescent neural stem cells (qNSCs), resulting from the conditional deletion of Arid1b in adult brain NSCs. Particularly, increased H3K27me3 levels in qNSCs due to conditional Arid1b deficiency precipitated autism-related phenotypes, but rescuing this through H3K27me3 inhibition effectively reversed autistic-like phenotypes. Importantly, we also found quiescent like NSCs in humans carrying the ARID1B mutation, as well as in NSCs of sporadic autism patients. These results highlight the significant role of aberrant qNSCs associated with adult neurogenesis for autism development in adult brain, offering a novel avenue for potentially controlling qNSC activity as a therapeutic strategy for autism.

Lien vers le texte intégral (Open Access ou abonnement)

11. Cikili-Uytun M, Yurumez E, Kaymak B, Dogan O, Ozturk HH, Kanoglu BNB, Oztop DB. Neuroinflammatory Pathways in Autism Spectrum Disorder: Unraveling the Role of Sirtuin 1 in Clinical Samples. Dev Neurobiol;2025 (Oct);85(4):e22981.

Despite extensive research, the etiological factors contributing to autism spectrum disorder (ASD) remain incompletely understood, with potential influences ranging from genetic predispositions to environmental factors. Sirtuin 1 (SIRT1), an NAD(+)-dependent histone deacetylase involved in mitigating oxidative stress and its association with other neurodevelopmental disorders, explores its function in ASD. This study aimed to elucidate the relationship between SIRT1 and inflammatory cytokines, specifically interleukin 6 (IL-6) and tumor necrosis factor alpha (TNF-α), in patients with ASD. This study enrolled 46 children diagnosed with ASD and 44 typically developing (TD) children aged 36-120 months. Diagnosis of ASD was confirmed using DSM-5 criteria through clinical and observational assessments conducted by three experienced child and adolescent psychiatrists at the outpatient Infant Mental Health unit of Ankara University. The Childhood Autism Rating Scale (CARS) and the Repetitive Behavior Scale-Revised (RBS-R) were used to assess autistic behaviors. Analysis of serum levels of SIRT1, IL-6, and TNF-α revealed no significant differences between the ASD group and the TD group. Correlation analysis demonstrated a significant positive relationship between SIRT1 levels and IL-6 (r = 0.71, p < 0.001) and TNF-α (r = 0.86, p < 0.001). Additionally, regression phenomena exhibited a moderate negative correlation with IL-6 (r = -0.32, p = 0.02) and TNF-α (r = -0.38, p = 0.008). Age was positively correlated with levels of IL-6, TNF-α, and SIRT1. However, no correlations were found between these parameters and gender. These findings do not support the hypothesized role of disturbances in the expression of circulating cytokines and SIRT1 as indicators of systemic inflammation in autism. Further longitudinal studies should examine these immune markers in blood samples from large sample sizes.

Lien vers le texte intégral (Open Access ou abonnement)

12. Cohen SR, Wishard Guerra A, Aragón MJ, Estrada A, Lee E. How do parents scaffold their autistic children’s bilingual language interactions in everyday settings?. Autism;2025 (Jul 27):13623613251355259.

This study examines how multilingual caregivers use their linguistic resources to support their autistic children’s language development, challenging historical narratives recommending therapists use only one language, English. Using a critical language socialization framework in which multilingualism is considered a practice that transcends linguistic competence, we analyzed 108 videos from five Spanish-dominant, Mexican heritage families. Findings showed that (1) families flexibly used their linguistic resources in daily interactions; (2) home activity settings predicted language use in distinct ways, transportation activities provided fewer constraints for interlocutors to use decontextualized language, language for abstract reasoning and prediction; and (3) variability in maternal scaffolding strategies influenced children’s decontextualized language. We recommend the implementation of asset-based interventions designed to leverage the strengths of multilingual autistic children and their families.Lay AbstractMexican heritage bilingual mothers of autistic children use a variety of language practices when talking with their children. We asked mothers to video record their language interactions with their autistic child over 10 days. Specifically, we analyzed the verbal language practices parents and children used during daily routine activities (e.g. meals). Historically, therapists have recommended that multilingual families only use English when talking with their autistic children, so as not to confuse them and interfere with their development. It is important to understand how multilingual parents use this non-empirical advice. In our sample, we found that mothers used a variety of language strategies including Spanish, English, describing and labeling their environment, action directions (directing a child to perform an action), close-ended questions (e.g. what color is this?), open-ended questions (e.g. How does the radio work?), and abstract reasoning to interact with their children. These strategies varied across activity settings. In particular, transportation was an important setting for children to use abstract language. Mothers’ verbal strategies influenced children’s language output, including children’s use of abstract reasoning and prediction, one of the most complex language strategies.

Lien vers le texte intégral (Open Access ou abonnement)

13. Costanza C, Gallai B, Sorrentino M, Gnazzo M, Pisanò G, Parisi L, Germanò E, Maltese A, Esposito M, Roccella M, Carotenuto M. The Prevalence and Clinical Significance of Toe Walking in Autism Spectrum Disorder: A Cross-Sectional Study in an Italian Pediatric Sample. Medicina (Kaunas);2025 (Jul 25);61(8)

Background and Objectives: Toe walking (TW) is frequently observed in children with Autism Spectrum Disorder (ASD), yet its clinical significance and association with comorbid conditions remain poorly understood. This study aimed to examine the prevalence of TW in a large Italian cohort of children with ASD and to explore its association with ASD severity, sleep disturbances, feeding behaviors, and gastrointestinal symptoms. Materials and Methods: A total of 289 children with ASD and 289 typically developing controls (TDC), matched for age and sex, were evaluated in a multicentric observational study. TW was assessed during neurodevelopmental evaluations. Sleep quality was assessed using the Sleep Disturbance Scale for Children (SDSC), feeding behaviors via the Brief Autism Mealtime Behavior Inventory (BAMBI), and gastrointestinal symptoms through clinical reporting. Statistical analyses included Chi-square tests, Mann-Whitney U tests, Spearman correlations, and logistic regressions. Results: TW was significantly more prevalent in the ASD group (27.3%) than in TDC (5.5%, p < 0.0001). Within the ASD group, TW occurred in 50.5% of children with Level 3 severity but was absent in Levels 1 and 2 (p < 0.0001). Males exhibited TW more frequently than females. Children with TW had higher SDSC scores (ρ = 0.33, p < 0.0001), though no subscale independently predicted TW. Constipation was reported in 100% of children with Level 3 ASD and was strongly correlated with SDSC total scores (ρ = 0.58, p < 0.0001). The Disorders of Arousal (DA) subscale emerged as an independent predictor of constipation (β = 0.184, p = 0.019). Conclusions: TW in ASD appears to be a marker of greater neurodevelopmental severity and is associated with sleep disturbances and gastrointestinal dysfunction. These findings support the hypothesis that TW may reflect broader dysfunctions involving the gut-brain axis, sensory processing, and motor control. The routine clinical assessment of TW should include the evaluation of sleep and somatic symptoms to better understand the multisystemic nature of ASD phenotypes.

Lien vers le texte intégral (Open Access ou abonnement)

14. Diken IH, Diken O, Isik U. Development and Validation of the Autism Behavior Assessment Scale (ABAS). Children (Basel);2025 (Aug 8);12(8)

Background: Autism Spectrum Disorder (ASD) encompasses a range of neurodevelopmental conditions characterized by impairments in social communication, restricted and repetitive behaviors, and sensory sensitivities. Despite increased awareness, timely diagnosis in Türkiye remains limited due to the lack of culturally appropriate, psychometrically robust assessment tools. Objective: This study aimed to develop, validate, and standardize the Autism Behavior Assessment Scale (ABAS) as a reliable and culturally adapted tool for assessing ASD-related behaviors in individuals aged 3-24 years in Türkiye. Methods: Employing a three-phase, nine-step scale development framework, data were gathered from 1275 informants (parents and professionals) across 14 provinces. The ABAS comprises 36 items rated on a three-point Likert scale, spanning four subscales: Restricted Repetitive Behaviors & Sensory Sensitivity (RRBSS), Social Interaction (SI), Social Communication (SC), and Non-Developmental Speech (NDS). Psychometric analyses included exploratory and confirmatory factor analysis, reliability testing, and validation against established instruments. Results: The four-factor structure was confirmed via EFA and CFA with excellent model fit. The ABAS demonstrated strong internal consistency (α = 0.91-0.96), test-retest reliability (r = 0.83), and criterion validity (r = 0.93 with GARS-2-TV; r = 0.84 with U-ODKL). Discriminant validity analyses showed that the ABAS accurately differentiated individuals with ASD from individuals with intellectual disabilities (ID) and individuals with hearing impairments (AUC = 0.99). Conclusions: The ABAS is a psychometrically sound, developmentally sensitive, and culturally grounded instrument for identifying and monitoring ASD-related behaviors in Türkiye. It holds promise for improving early detection and guiding educational and clinical interventions.

Lien vers le texte intégral (Open Access ou abonnement)

15. Dobre M, Gaina G, Erbescu A, Glangher A, Linca FI, Ioana D, Severin EM, Rad F, Iliescu MC, Papuc SM, Hinescu ME, Arghir A, Budișteanu M. FMR1 Methylation Pattern and Repeat Expansion Screening in a Cohort of Boys with Autism Spectrum Disorders: Correlation of Genetic Findings with Clinical Presentations. Genes (Basel);2025 (Jul 29);16(8)

BACKGROUND/OBJECTIVES: Autism spectrum disorders (ASDs) are neurodevelopmental conditions with early onset of clinical manifestations. ASD etiology is highly heterogeneous, with genetic factors being strong determinants of the behavioral problems and neurodevelopmental deficits. Fragile X syndrome (FXS) (OMIM #300624), caused by the transcriptional silencing of the FMR1 gene, represents the most common monogenic cause of autism. Our study included 226 boys with a diagnosis of ASD, for a systematic screening of genetic and epigenetic defects in the FMR1 gene promoter in a Romanian pediatric cohort. METHODS: The methods, methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) and triplet-primed PCR (TP-PCR)/melt curve analysis (MCA), were chosen for their ability to detect the methylation anomalies (the former) as well as repeat expansions in the FMR1 promoter (the latter). RESULTS: Both methods used in our screening generated concordant results, detecting FMR1 full mutation in 4 out of 226 patients (~1.8%). This yield is similar to data obtained in larger studies. Three out of four boys presented the typical clinical features, in correlation with genetic findings. CONCLUSIONS: The combined use of MS-MLPA and TP-PCR/MCA-based assay was, in our experience, useful to fully describe the genetic defects responsible for FXS. A significant variability of clinical presentations was observed in our small group of children with FXS, from mild to severe intellectual disability and from atypical to characteristic dysmorphic features, as well as various behavioral problems.

Lien vers le texte intégral (Open Access ou abonnement)

16. Falivene A, Scaccabarozzi G, Busti Ceccarelli S, Molteni M, Klingels K, Verbecque E, Storm FA, Biffi E, Crippa A. Virtual Reality-Based Postural Balance Training in Autistic Children: A Pilot Randomized Controlled Trial. J Clin Med;2025 (Aug 8);14(16)

Background/Objectives: Beyond the core characteristics of the condition, autistic individuals often significantly struggle with postural balance. This pilot study aimed to investigate the effects of an immersive virtual reality-based training administered with Gait Real-time Analysis Interactive Lab (GRAIL) on postural balance of autistic children. Methods: A total of 20 autistic participants aged 6 to 13 were enrolled in a 5-week randomized, parallel-group, open-label, controlled trial, and received either balance training with the GRAIL system or no training. The trial was registered at ClinicalTrials.gov (identifier: NCT04276571). The primary outcome measures were the change in center of pressure (CoP) metrics during GRAIL balance assessments and the change in motor skills as assessed with Movement Assessment Battery for Children-2. Secondary outcome measures included parent-report Developmental Coordination Disorder Questionnaire, center of mass metrics, and gait parameters evaluated with GRAIL. ANCOVA tests were performed for all outcomes, with time (T0 and T1) as within-subjects factor, the group (training and control groups) as between-subjects factor, and considering age as covariate. Results: Slight but significant time by group interactions were found in some CoP metrics (i.e., sway path length, velocity in the antero-posterior direction, and the jerk). Conclusions: These findings preliminarily suggest that a virtual reality-based training may induce slight modifications in postural balance strategies, which can be enhanced with longer or more intensive training.

Lien vers le texte intégral (Open Access ou abonnement)

17. Fallea A, Costanza C, L’Episcopo S, Bartolone M, Rundo F, Smirni D, Roccella M, Elia M, Ferri R, Vetri L. Virtual Reality-Based Versus Traditional Teaching Approaches in the Oral Hygiene Education of Children with Autism Spectrum Disorder. J Clin Med;2025 (Aug 15);14(16)

Background/Objectives: Maintaining proper oral hygiene is particularly challenging for individuals with autism spectrum disorder (ASD) due to sensory sensitivities, communication difficulties, and anxiety. Traditional oral hygiene education methods may be ineffective for this population, thereby necessitating innovative solutions. This study evaluates the effectiveness of a virtual reality (VR)-based educational program in improving home oral hygiene practices among children and adolescents with ASD. Methods: Sixty-four children with ASD (Level 1) were recruited and divided into two groups. Group 1 received traditional oral hygiene education, while Group 2 used a VR-based intervention featuring a virtual domestic bathroom with an avatar demonstrating proper brushing and flossing techniques. The intervention lasted eight weeks, with two one-hour sessions per week. The oral health assessment tool (OHAT) was used to evaluate oral hygiene status before and after the intervention. An unpaired t-test compared outcomes between groups. Results: Both groups showed improvements in oral hygiene, but the VR intervention group exhibited a significantly greater reduction in OHAT scores compared to the traditional education group (p < 0.001) due to a greater improvement in oral health. The VR-based approach enhanced engagement and adherence to oral hygiene routines, particularly benefiting children with ASD who struggle with conventional methods. Conclusions: VR-based education appears to be a promising tool for improving oral hygiene habits in children with ASD by providing an interactive and immersive learning experience. Future research should explore long-term adherence and the broader application of VR in healthcare education.

Lien vers le texte intégral (Open Access ou abonnement)

18. Fluegge K, Fluegge K. Comment on Frye et al. Air Pollution and Maximum Temperature Are Associated with Neurodevelopmental Regressive Events in Autism Spectrum Disorder. J. Pers. Med. 2022, 12, 1809. J Pers Med;2025 (Aug 15);15(8)

Frye et al. […].

Lien vers le texte intégral (Open Access ou abonnement)

19. Frye RE. Reply to Fluegge, K.; Fluegge, K. Comment on « Frye et al. Air Pollution and Maximum Temperature Are Associated with Neurodevelopmental Regressive Events in Autism Spectrum Disorder. J. Pers. Med. 2022, 12, 1809 ». J Pers Med;2025 (Aug 15);15(8)

I would like to thank Fluegge and Fluegge for their comments on our study which identified air pollution and maximum temperature as potential environmental factors associated with neurodevelopmental regression (NDR) in children with autism spectrum disorder (ASD) […].

Lien vers le texte intégral (Open Access ou abonnement)

20. Gargus JJ. Genetic Dissection of Energy Deficiency in Autism Spectrum Disorder. Genes (Basel);2025 (Jul 31);16(8)

Background/Objectives: An important new consideration when studying autism spectrum disorder (ASD) is the bioenergetic mechanisms underlying the relatively recent rapid evolutionary expansion of the human brain, which pose fundamental risks for mitochondrial dysfunction and calcium signaling abnormalities and their potential role in ASD, as recently highlighted by insights from the BTBR mouse model of ASD. The rapid brain expansion taking place as Homo sapiens evolved, particularly in the parietal lobe, led to increased energy demands, making the brain vulnerable to such metabolic disruptions as are seen in ASD. Methods: Mitochondrial dysfunction in ASD is characterized by impaired oxidative phosphorylation, elevated lactate and alanine levels, carnitine deficiency, abnormal reactive oxygen species (ROS), and altered calcium homeostasis. These dysfunctions are primarily functional, rather than being due to mitochondrial DNA mutations. Calcium signaling plays a crucial role in neuronal ATP production, with disruptions in inositol 1,4,5-trisphosphate receptor (ITPR)-mediated endoplasmic reticulum (ER) calcium release being observed in ASD patient-derived cells. Results: This impaired signaling affects the ER-mitochondrial calcium axis, leading to mitochondrial energy deficiency, particularly in high-energy regions of the developing brain. The BTBR mouse model, with its unique Itpr3 gene mutation, exhibits core autism-like behaviors and metabolic syndromes, providing valuable insights into ASD pathophysiology. Conclusions: Various interventions have been tested in BTBR mice, as in ASD, but none have directly targeted the Itpr3 mutation or its calcium signaling pathway. This review presents current genetic, biochemical, and neurological findings in ASD and its model systems, highlighting the need for further research into metabolic resilience and calcium signaling as potential diagnostic and therapeutic targets for ASD.

Lien vers le texte intégral (Open Access ou abonnement)

21. Gellert B, Ostrowski J, Pinkas J, Religioni U. Underdiagnosed and Misunderstood: Clinical Challenges and Educational Needs of Healthcare Professionals in Identifying Autism Spectrum Disorder in Women. Behav Sci (Basel);2025 (Aug 7);15(8)

Autism Spectrum Disorder (ASD) remains significantly underdiagnosed in women, resulting in a persistent gender gap with important clinical, functional, and psychosocial implications. This narrative review explores the multifactorial barriers contributing to diagnostic disparities, including the male-oriented structure of current diagnostic criteria, the prevalence of co-occurring psychiatric conditions, and the phenomenon of social camouflaging shaped by culturally reinforced gender norms. These factors frequently lead to delayed identification, clinical misinterpretation, and suboptimal care. The review synthesizes evidence from clinical, psychological, and sociocultural research to demonstrate how the under-recognition of ASD in women impacts mental health outcomes, access to education, occupational stability, and overall quality of life. Special emphasis is placed on the consequences of missed or late diagnoses for healthcare delivery and the educational needs of clinicians involved in ASD assessment and care. This article concludes with actionable, evidence-based recommendations for enhancing diagnostic sensitivity, developing gender-responsive screening strategies, and integrating training on female autism presentation into medical and allied health education. Addressing these challenges is essential to reducing diagnostic inequities and ensuring timely, accurate, and person-centered care for autistic women throughout their lifespan.

Lien vers le texte intégral (Open Access ou abonnement)

22. Hann F, Pesthy O, Brezóczki B, Vékony T, Nagy CA, Sapey-Triomphe LA, Tóth-Fáber E, Farkas BC, Farkas K, Németh D. Autistic traits relate to speed/accuracy trade-off but not statistical learning and updating. Sci Rep;2025 (Aug 30);15(1):32001.

Cognitive and social alterations characterize Autism Spectrum Disorder (ASD), yet comprehensive explanations are challenged by ASD’s heterogeneity. One candidate framework is predictive processing, which posits that predictive processes are altered in ASD (e.g., slower internal model updating). We tested this framework using the spectrum approach, which suggests that subclinical autistic traits are continuously distributed in the general population, with most diagnosed individuals above a threshold. We recruited neurotypical adults (N = 296) to examine the relationship between autistic traits and predictive processing. Using an implicit statistical learning task, we tested model updating in an unsupervised, ecologically valid manner, and assessed speed/accuracy trade-off to control for potential visuomotor performance confounds in ASD. We found no difference in model updating rate along autistic traits, suggesting no relationship between these traits and model updating in the general population, contrary to the slow updating hypothesis. However, our results reveal a difference in the evolution of speed/accuracy trade-off along the degree of autistic traits, potentially indicating a shift in the balance of goal-directed and habitual systems related to autistic traits. These findings set the stage for further research on the interaction between executive functions and predictive, habitual processes related to autistic symptoms.

Lien vers le texte intégral (Open Access ou abonnement)

23. Higuchi Y, Ozawa A, Kobayashi R, Konno T, Arakawa H. Functional disruption of oxytocin projections participates atypical social and anxiety-like behaviours in BTBR mouse model of autism. Open Biol;2025 (Aug);15(8):240387.

Oxytocin (OXT) neurons in the paraventricular nucleus of the hypothalamus (PVN), which send projections to the medial amygdala (MeA) and the bed nucleus of the stria terminalis (BnST), are implicated in regulation of prosocial-emotional behaviours and abnormalities resembling autism spectrum disorders (ASD). Compared with standard C57BL6J (B6) mice, BTBR mice, a behaviour-based ASD model, exhibited decreased densities of OXT(PVN) neurons and attenuated OXT neuronal responses to a social encounter. OXT receptor mRNA expressions in the MeA and BnST as a response to a social encounter were blunted in BTBR mice. OXT promoter retrograde viral tracing revealed that the OXT(PVN→BnST) projections were defective in those BTBR mice. Thus, chemogenetic excitation of OXT(PVN→MeA) neurons using OXT promoter adeno-associated viruses (AAV) enhanced anxiety-like behaviour and facilitated social investigation in both strains, while excitation of OXT(PVN→BnST) neurons attenuated anxiety-like behaviour along with social investigation in B6 mice and failed to induce a change in their socio-emotional behaviours in BTBR mice. Altogether, OXT circuits serve as a key regulator for socio-emotional behaviour; MeA-OXT projection facilitates social investigation and anxiety-like behaviour, while BnST-OXT projection conversely attenuates these behaviours; hence a defect of the OXT(PVN→BnST) circuits contributes to the development of ASD-like social phenotypes in BTBR mice.

Lien vers le texte intégral (Open Access ou abonnement)

24. Hirose N, Tashiro Y, Takasaki T. Effects of a 12-Week Exercise Intervention on Primitive Reflex Retention and Social Development in Children with ASD and ADHD. Children (Basel);2025 (Jul 28);12(8)

Objective: Retained primitive reflexes are associated with delayed motor and behavioral development in children with autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). This study examined the effects of a 12-week structured exercise intervention on reflex integration, motor coordination, and socio-behavioral outcomes in these populations. Method: Fifteen children with ASD (13 boys, 2 girls) and twelve with ADHD (8 boys, 4 girls), aged 6-12 years, participated in rhythmic, balance, and coordination-based exercises. Primitive reflexes, including the asymmetrical tonic neck reflex (ATNR), were assessed using standardized protocols, and fine motor coordination was evaluated using the Finger and Thumb Opposition Test (FOT). Behavioral outcomes were measured using the Social Responsiveness Scale-2 (SRS-2) for the ASD group and the Conners 3 for the ADHD group. Results: The ASD group showed significant reductions in left-standing ATNR retention scores (p = 0.012) and improvements in right-hand FOT scores (p = 0.023). In the ADHD group, significant improvements were also observed in right-hand FOT scores (p = 0.007). Furthermore, Conners 3 Total and Global Index scores significantly decreased in the ADHD group (p = 0.016 and 0.020, respectively). Reflex retention patterns appeared broader and more bilateral in ASD than in ADHD, suggesting distinct motor developmental profiles. Conclusions: Short-term rhythmic, balance, and whole-body coordination exercise interventions may support behavioral and motor development in children with ASD and ADHD. Tailored programs emphasizing reflex integration hold promise for clinical and educational applications.

Lien vers le texte intégral (Open Access ou abonnement)

25. Lewandowska-Pietruszka Z, Figlerowicz M, Mazur-Melewska K. Oral Microbiota Composition and Its Association with Gastrointestinal and Developmental Abnormalities in Children with Autism Spectrum Disorder. Microorganisms;2025 (Aug 4);13(8)

Autism Spectrum Disorder (ASD) is frequently accompanied by gastrointestinal disturbances, dietary selectivity, and altered stress responses, with growing evidence pointing to gut-brain axis involvement. While intestinal microbiota has been extensively studied, the role of the oral microbiota remains underexplored. This study investigates the associations between oral microbiota composition and behavioral, gastrointestinal, dietary, and neuroendocrine parameters in children with ASD. A total of 45 children aged 2-18 years comprised the study group. Data collection included oral swabs for 16S rRNA gene sequencing, salivary cortisol sampling, dietary records, and standardized behavioral assessments using the Vineland Adaptive Behavior Scale. A total of 363 microbial species across 11 phyla were identified. Significant correlations were observed between specific bacterial taxa and functional gastrointestinal disorders (FGIDs), dietary patterns, salivary cortisol rhythms, and functioning. Children with FGIDs, food selectivity, or macronutrient imbalances exhibited enriched pro-inflammatory taxa (e.g., Selenomonas, Megasphaera), whereas those with typical cortisol secretion or higher adaptive functioning showed greater microbial diversity and abundance of health-associated genera (e.g., Bifidobacterium dentium). These findings suggest that oral microbiota profiles may reflect systemic physiological and neurobehavioral traits in children with ASD. Further longitudinal studies are needed to clarify causal relationships and support the development of microbiota-targeted interventions.

Lien vers le texte intégral (Open Access ou abonnement)

26. Marano G, Kotzalidis GD, Anesini MB, Barbonetti S, Rossi S, Milintenda M, Restaino A, Acanfora M, Traversi G, Veneziani G, Picilli M, Callovini T, Lai C, Mercuri EM, Sani G, Mazza M. Exploring the Autistic Brain: A Systematic Review of Diffusion Tensor Imaging Studies on Neural Connectivity in Autism Spectrum Disorder. Brain Sci;2025 (Jul 31);15(8)

Background/Objectives: Autism spectrum disorder (ASD) has been extensively studied through neuroimaging, primarily focusing on grey matter and more in children than in adults. Studies in children and adolescents fail to capture changes that may dampen with age, thus leaving only changes specific to ASD. While grey matter has been the primary focus, white matter (WM) may be more specific in identifying the particular biological signature of the neurodiversity of ASD. Diffusion tensor imaging (DTI) is the more appropriate tool to investigate WM in ASD. Despite being introduced in 1994, its application to ASD research began in 2001. Studies employing DTI identify altered fractional anisotropy (FA), mean diffusivity, and radial diffusivity (RD) in individuals with ASD compared to typically developing (TD) individuals. Methods: We systematically reviewed literature on 21 May 2025 on PubMed using the following strategy: (« autism spectrum »[ti] OR autistic[ti] OR ASD[ti] OR « high-functioning autism » OR Asperger*[ti] OR Rett*[ti]) AND (DTI[ti] OR « diffusion tensor »[ti] OR multimodal[ti] OR « white matter »[ti] OR tractograph*[ti]). Our search yielded 239 results, of which 26 were adult human studies and eligible. Results: Analysing the evidence, we obtained regionally diverse WM alterations in adult ASD, specifically in FA, MD, RD, axial diffusivity and kurtosis, neurite density, and orientation dispersion index, compared to TD individuals, mostly in frontal and interhemispheric tracts, association fibres, and subcortical projection pathways. These alterations were less prominent than those of children and adolescents, indicating that individuals with ASD may improve during brain maturation. Conclusions: Our findings suggest that white matter alterations in adults with ASD are regionally diverse but generally less pronounced than in younger populations. This may indicate a potential improvement or adaptation of brain structure during maturation. Further research is needed to clarify the neurobiological mechanisms underlying these changes and their implications for clinical outcomes.

Lien vers le texte intégral (Open Access ou abonnement)

27. Martínez Moreno CM, Hernández Garre JM, Echevarría Pérez P, Morales Moreno I, Vegue Parra E, Valero Merlos E. Effectiveness of Equine-Assisted Intervention as a Therapeutic Strategy for Improving Adaptive Behaviour in Children with Autism Spectrum Disorder. Healthcare (Basel);2025 (Aug 15);13(16)

Background/Objectives: This study examines the effectiveness of equine-assisted intervention (EAI) in improving adaptive behaviour and motor skills in children with autism spectrum disorder (ASD). Methods: To that effect, a self-controlled experimental analytical study has been designed, which is longitudinal and prospective in nature, with pre- and post-intervention measures, using the Vineland Adaptive Behavior Scale II (VABS-II) as the assessment instrument. The sample consists of 19 children who participated in weekly therapeutic sessions involving horses for eight months; these sessions included horseback riding, groundwork, hygiene, and preparation of the horse. Results: The results show significant improvements both in the overall score of the VABS-II test (x¯pre: 65.84 ± 10.38-x¯post: 72.47 ± 16.21, p = 0.003) and in the areas of communication (x¯pre: 64.84 ± 15.50 ~ x¯post: 72.26 ± 21.93, p = 0.010), social skills (x¯pre: 61.26 ± 8.99 ~ x¯post: 66.53 ± 13.79, p = 0.008) and daily living skills (DLS) (x¯pre: 66.21 ± 11.15 ~ x¯post: 69.95 ± 12.32, p = 0.0004), as well as a non-significant slight improvement in motor skills (x¯pre: 72.50 ± 8.83 ~ x¯post: 75.17 ± 7.88, p = 0.363). In addition, these gains were greater in those children attending standard classroom settings and receiving early stimulation. Conclusions: This study suggests equine-assisted intervention (EAI) may contribute to improvements in adaptive behaviour, including communication, social skills, and daily living skills, in children with autism spectrum disorder (ASD). Benefits were notably enhanced in children receiving early stimulation within standard classroom settings.

Lien vers le texte intégral (Open Access ou abonnement)

28. Monti M, Molholm S, Foxe JJ, Cuppini C. Is Competition the Default Configuration of Cross-Sensory Interactions?. Eur J Neurosci;2025 (Aug);62(4):e70233.

Several theories have been proposed about the default configuration of the brain’s networks underlying unisensory and multisensory processing abilities and the development of multisensory integration during childhood. Recent empirical findings from animal models and behavioral data collected from typically developing (TD) children and children with autism spectrum disorder (ASD), however, are consistent with the idea that in the immature brain, prior to systematic cross-sensory exposures typically encountered in everyday life, the individual sensory systems interact in a competitive manner. Which neural architecture and mechanisms best describe the brain’s naïve configuration are still unknown. To fill this gap, this study investigates how sensory modalities interact in the young brain by comparing the predictions of two alternative biologically plausible neuro-computational models to empirical data. The neural substrates responsible for the altered development of multisensory integrative processes observed in ASD children are also investigated. Linking the framework suggested by empirical data to a plausible neural implementation, our results challenge the classical notion of cross-sensory brain organization at birth, whereby the various sensory pathways do not initially interact. Instead, we suggest that direct inhibitory interactions between sensory modalities are taking place in the immature brain, and we suggest that these inhibitory interactions play a crucial role in the altered multisensory perceptual abilities of children with autism.

Lien vers le texte intégral (Open Access ou abonnement)

29. Nachkebia N, Bezhanishvili K, Maglakelidze N, Rogava N, Chkhartishvili E, Babilodze M, Shavgulidze M, Pipia N, McHedlidze O, Tsomaia V, Khachidze I, Chijavadze E. INCIDENCE AND CHARACTER OF SUBJECTIVE SLEEP DISORDERS IN THE GEORGIAN POPULATION OF CHILDREN AND ADOLESCENTS WITH AUTISM SPECTRUM DISORDER. Georgian Med News;2025 (Jun)(363):6-11.

AIM OF THE STUDY: This study aims to assess the incidence and characteristics of sleep disorders in children and adolescents with Autism Spectrum Disorder (ASD) in Georgia. This research is particularly relevant because ASD is a neurodevelopmental disorder, and one of its most challenging issues is sleep disorders. In Georgia, the number of children and adolescents with ASD has increased significantly over the past two decades, yet sleep disorders among this population have not been studied at all to date. MATERIAL AND METHODS: The parents (volunteers) of 500 ASD children/adolescents (without comorbid conditions and medication-free) participated in this study. Children and adolescents with ASD who had sleep disorders were identified based on subjective data collected from their parents using a modified version of the Children’s Sleep Habits Questionnaire, as well as the Simonds & Paraga modified version. The control group consisted of typically developing, age-matched peers. Results treated statistically by ANOVA, with Student’s t criteria. RESULTS AND CONCLUSION: For the first time, we discovered serious sleep disorders in 61% of Georgian children and adolescents with ASD characterized by: a) difficulties falling asleep, significant increases in sleep latency, and heightened sleep resistance; b) frequent awakenings and challenges in maintaining nighttime sleep; and c) a notable increase in anxiety and nightmares. All of these considerably worsen sleep quality, which can, in turn, have further consequences on the behavioral symptoms of ASD. The results will serve as diagnostic criteria for clinicians to prescribe personalized sleep therapy for each child or adolescent with ASD, in conjunction with behavioral therapy.

Lien vers le texte intégral (Open Access ou abonnement)

30. Naranjo-Galvis CA, Trejos-Gallego DM, Correa-Salazar C, Triviño-Valencia J, Valencia-Buitrago M, Ruiz-Pulecio AF, Méndez-Ramírez LF, Zabaleta J, Meñaca-Puentes MA, Ruiz-Villa CA, Orjuela-Rodriguez M, Carmona-Hernández JC, Salamanca-Duque LM. Anti-Inflammatory Diet and Probiotic Supplementation as Strategies to Modulate Immune Dysregulation in Autism Spectrum Disorder. Nutrients;2025 (Aug 18);17(16)

Background/Objectives: Autism spectrum disorder (ASD) is a neurodevelopmental condition associated with behavioral and cognitive impairments. Increasing evidence also links ASD with systemic immune dysregulation, including abnormal cytokine profiles and chronic low-grade inflammation. Emerging evidence suggests that targeted dietary strategies and probiotic supplementation may modulate immune responses and gut-brain interactions in patients with ASD. This study aimed to evaluate the immunomodulatory effects of a structured anti-inflammatory diet (NeuroGutPlus) compared to multi-strain probiotics in children with ASD. NeuroGutPlus is a nutritionally complete anti-inflammatory dietary protocol that targets gut integrity, inflammation, and mitochondrial function. It includes a diet low in gluten, FODMAPs, casein, and artificial additives, and a high intake of omega-3 fatty acids, polyphenols, and fermentable fibers. Methods: A total of 30 children with ASD and 12 neurotypical controls were enrolled in a 12-week randomized controlled nutritional trial. Participants received either a NeuroGutPlus anti-inflammatory diet, probiotic supplementation (16 strains of Lactobacillus and Bifidobacterium), or no intervention. Plasma levels of 20 cytokines and chemokines were measured pre- and post-intervention using multiplex Luminex immunoassays. Principal component analysis (PCA) was used to explore shifts in the immune profile. Results: Patients treated with the NeuroGutPlus diet significantly reduced IFN-γ levels (p = 0.0090) and showed a stabilizing effect on immune profiles, as evidenced by PCA clustering. Probiotic supplementation led to a significant increase in IL-8 (+66.6 pg/mL; p = 0.0350) and MIP-1β (+74.5 pg/mL; p = 0.0100), along with a decrease in IFN-γ (p = 0.0070), suggesting reconfiguration of innate immune responses. Eight out of eleven biomarkers showed significant post-intervention differences between groups, indicating distinct immunological effects. Conclusions: This study provides evidence that anti-inflammatory diets exert broader and more consistent immunoregulatory effects than probiotics alone in children with ASD. These findings support the inclusion of precision dietary strategies as non-pharmacological interventions to mitigate immune-related dysfunction in patients with ASD.

Lien vers le texte intégral (Open Access ou abonnement)

31. Nosratiyan N, Ghasemi-Kasman M, Pourghasem M, Feizi F, Sadeghi F. Plumbagin Improves Cognitive Function via Attenuating Hippocampal Inflammation in Valproic Acid-Induced Autism Model. Brain Sci;2025 (Jul 27);15(8)

Background/Objectives: The hippocampus is an essential part of the central nervous system (CNS); it plays a significant role in social-cognitive memory processing. Prenatal exposure to valproic acid (VPA) can lead to impaired hippocampal functions. In this study, we evaluated the effect of plumbagin (PLB) as a natural product on spatial learning and memory, neuro-morphological changes, and inflammation levels in a VPA-induced autism model during adolescence. Methods: Pregnant Wistar rats received a single intraperitoneal (i.p.) injection of VPA (600 mg/kg) or saline on gestational day 12.5. The male offspring were then categorized and assigned to five groups: Saline+DMSO-, VPA+DMSO-, and VPA+PLB-treated groups at doses of 0.25, 0.5, or 1 mg/kg. Spatial learning and memory were evaluated using the Morris water maze. Histopathological evaluations of the hippocampus were performed using Nissl and hematoxylin-eosin staining, as well as immunofluorescence. The pro-inflammatory cytokine levels were also quantified by quantitative real-time PCR. Results: The findings revealed that a VPA injection on gestational day 12.5 is associated with cognitive impairments in male pups, including a longer escape latency and traveled distance, as well as decreased time spent in the target quadrant. Treatment with PLB significantly enhanced the cognitive function, reduced dark cells, and ameliorated neuronal-morphological alterations in the hippocampus of VPA-exposed rats. Moreover, PLB was found to reduce astrocyte activation and the expression levels of pro-inflammatory cytokines. Conclusions: These findings suggest that PLB partly mitigates VPA-induced cognitive deficits by ameliorating hippocampal inflammation levels.

Lien vers le texte intégral (Open Access ou abonnement)

32. Papaleontiou A, Siafaka V, Voniati L, Gryparis A, Georgiou R, Tafiadis D. Validation of the Brief Autism Mealtime Behavior Inventory in Parents of Children in Cyprus. Children (Basel);2025 (Aug 14);12(8)

Background/Objectives: Autism Spectrum Disorder (ASD) includes significant feeding difficulties, behavioral issues, and communication deficits that are linked to serious medical complications and developmental challenges. The Brief Autism Mealtime Behavior Inventory (BAMBI) is a commonly used tool to screen for mealtime behavior problems in children with ASD; however, it lacks validation for use within the Greek-Cypriot population. The current study sought to present the translation, cultural adaptation, and validation of the BAMBI for Greek-Cypriot parents of children with ASD. Methods: Three bilingual experts translated the inventory into Greek, following the translation guidelines by the World Health Organization. The inventory was then administered to 117 parents: 42 children with ASD and 75 typically developing children. Principal Component Analysis was used to obtain the tool’s statistical reliability and validity. Results: BAMBI-Gr demonstrated strong internal consistency, as indicated by a Cronbach’s alpha of 0.755, and showed excellent test-retest reliability, with an intraclass correlation coefficient of 0.999. PCA identified three key factors: General Refusals, Refusing Food, and Autism-Related Features. Significant differences in BAMBI-Gr scores of the comparative group of parents of children with ASD and parents of typically developing children highlighted the tool’s sensitivity in detecting mealtime behavior problems. Receiver Operating Characteristics analysis set the cut-off points for optimum distinguishing of feeding problems at 46.00 (sensitivity 0.738, 1-specificity 0.000). Conclusions: The Greek-translated version of the BAMBI demonstrates validity and effectiveness as a parent-reported assessment tool for identifying feeding and mealtime difficulties in children with ASD.

Lien vers le texte intégral (Open Access ou abonnement)

33. Quaranta CA, Gardani A, Andorno G, Pichiecchio A, Gana S, Borgatti R, Orcesi S. Expanding the Phenotypic Spectrum of SPG4: Autism Spectrum Disorder in Early-Onset and Complex SPAST-HSP and Case Study. Genes (Basel);2025 (Aug 18);16(8)

BACKGROUND/OBJECTIVES: Hereditary spastic paraplegias (HSPs) comprise a heterogenous spectrum of rare neurogenetic disorders predominantly characterized by progressive spasticity and weakness of the lower extremities. Among autosomal-dominant forms of HSP, molecular defects in the SPAST gene-particularly those associated with the SPG4 subtype-represent the most frequent genetic cause. SPAST encodes spastin, a microtubule-severing ATPase, crucial for cytoskeletal remodeling, neuronal connectivity, and intracellular trafficking. Disruption of spastin function can impair neurite outgrowth and synaptic formation, processes increasingly implicated in neurodevelopmental disorders (NDDs). METHODS: We conducted a comprehensive clinical, neurological, and dysmorphological evaluation of a 4-year-old male. Standardized neuropsychological assessments were administered. Whole-exome sequencing (WES) was performed to identify underlying genetic causes. EEG and 3T-brain MRI were also acquired. RESULTS: The proband harbored two novel de novo heterozygous missense variants in cis of the SPAST gene, displaying the typical features of early-onset and complex HSP, in addition to global developmental delay and severe autism spectrum disorder (ASD), an underexplored manifestation in this rare genetic disorder. CONCLUSIONS: These findings broaden the clinical and mutational spectrum of SPG4, underscoring the importance of considering SPAST gene analysis in patients with ASD in the early years of life and early motor delay, even in the presence of only subtle pyramidal signs. We advocate for comprehensive neuropsychiatric assessment in the diagnostic pathway of early-onset complex HSP presentations and support further investigation into the role of spastin in neuronal connectivity.

Lien vers le texte intégral (Open Access ou abonnement)

34. Ramsey K, Prakash S, Kerkhof J, Sadikovic B, White S, Naymik M, Sloan J, Bonfitto A, Belnap N, Sanchez-Castillo M, Jepsen W, Huentelman M, Bernes S, Narayanan V, Kaur S. Integration of Genome and Epigenetic Testing in the Diagnostic Evaluation of Developmental Delay: Differentiating Börjeson-Forssman-Lehmann (BFLS) and White-Kernohan (WHIKERS) Syndromes. Genes (Basel);2025 (Aug 4);16(8)

Background: More than 1500 genes are associated with developmental delay and intellectual disability, with variants in many of these genes contributing to a shared phenotype. The discovery of variants of uncertain significance (VUS) found in these genes during genetic testing can lead to ambiguity and further delay in diagnosis and medical management. Phenotyping, additional genetic testing, and functional studies can all add valuable information to help reclassify these variants. Here we demonstrate the clinical utility of epigenetic signatures in prioritizing variants of uncertain significance in genes associated with developmental delay (DD) and intellectual disability (ID). Methods: Genome sequencing was performed in a male with developmental delay. He was found to have VUSs in both PHF6 and DDB1 genes, linked with Börjeson-Forssman-Lehmann syndrome (BFLS) and White-Kernohan syndrome (WHIKERS), respectively. These two disorders share a similar phenotype but have distinct inheritance patterns and molecular pathogenic mechanisms. DNA methylation profiling (DNAm) of whole blood was performed using the clinically validated EpiSign assay. Results: The proband’s methylation profile demonstrated a strong correlation with the BFLS methylation signature, supporting the PHF6 variant as a likely cause of his neurodevelopmental disorder. Conclusions: Epigenetic testing for disorders with distinct methylation patterns can provide diagnostic utility when a patient presents with variants of uncertain significance in genes associated with developmental delay. Epigenetic signatures can also guide genetic counselling and family planning.

Lien vers le texte intégral (Open Access ou abonnement)

35. Repiská G, Konečný M, Krasňanská G, Celušáková H, Belica I, Rašková B, Kopčíková M, Keményová P, Ostatníková D, Lakatošová S. Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia. Genes (Basel);2025 (Jul 28);16(8)

BACKGROUND: Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders characterized by a complex, multifactorial etiology with a strong genetic contribution. Our study aimed to evaluate the link between the burden of rare genetic variants within a specific panel of ASD and intellectual disability-associated genes and phenotypic variability in a cohort of children with autism in Slovakia. METHODS: Gene burden scores were calculated based on pathogenic, likely pathogenic, and uncertain significance rare DNA variants identified by whole-exome sequencing. We then assessed the effect of three different scoring methods on the variance across 15 psycho-behavioral parameters describing the phenotypic profiles of 117 ASD probands. RESULTS: The burden score showed a significant multivariate effect on the combination of psycho-behavioral parameters. This score was associated with the social affect of ADOS-2, as well as with the socialization domain, and total adaptive behavior scores from the Vineland Adaptive Behavior Scales-3 (VABS). While a score based solely on count of pathogenic and likely pathogenic variants did not show a multivariate effect, incorporating variants of uncertain significance revealed a multivariate effect on two adaptive behavior parameters: daily living skills and total adaptive behavior score (VABS). CONCLUSIONS: Our findings partially explain the variability in phenotypic manifestation in our ASD patient cohort, highlighting the importance of considering the cumulative effect of rare genetic variants, including those of uncertain significance, in shaping the diverse clinical presentation of ASD.

Lien vers le texte intégral (Open Access ou abonnement)

36. Rincic M, Brecevic L, Liehr T, Gotovac Jercic K, Doder I, Borovecki F. Customized Chromosomal Microarrays for Neurodevelopmental Disorders. Genes (Basel);2025 (Jul 24);16(8)

BACKGROUND: Neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD), are genetically complex and often linked to structural genomic variations such as copy number variants (CNVs). Current diagnostic strategies face challenges in interpreting the clinical significance of such variants. METHODS: We developed a customized, gene-oriented chromosomal microarray (CMA) targeting 6026 genes relevant to neurodevelopment, aiming to improve diagnostic yield and candidate gene prioritization. A total of 39 patients with unexplained developmental delay, intellectual disability, and/or ASD were analyzed using this custom platform. Systems biology approaches were employed for downstream interpretation, including protein-protein interaction networks, centrality measures, and tissue-specific functional module analysis. RESULTS: Pathogenic or likely pathogenic CNVs were identified in 31% of cases (9/29). Network analyses revealed candidate genes with key topological properties, including central « hubs » (e.g., NPEPPS, PSMG1, DOCK8) and regulatory « bottlenecks » (e.g., SLC15A4, GLT1D1, TMEM132C). Tissue- and cell-type-specific network modeling demonstrated widespread gene involvement in both prenatal and postnatal developmental modules, with glial and astrocytic networks showing notable enrichment. Several novel CNV regions with high pathogenic potential were identified and linked to neurodevelopmental phenotypes in individual patient cases. CONCLUSIONS: Customized CMA offers enhanced detection of clinically relevant CNVs and provides a framework for prioritizing novel candidate genes based on biological network integration. This approach improves diagnostic accuracy in NDDs and identifies new targets for future functional and translational studies, highlighting the importance of glial involvement and immune-related pathways in neurodevelopmental pathology.

Lien vers le texte intégral (Open Access ou abonnement)

37. Sadat-Nejad Y, Vandewouw MM, Brian J, Crosbie J, Schachar RJ, Iaboni A, Kelley E, Jones J, Taylor MJ, Ayub M, Nicolson R, Syed B, Hammill C, Georgiades S, Arnold PD, Lerch JP, Anagnostou E, Kushki A. Characterizing replicability in the clustering structure of brain morphology in autism, attention-deficit/hyperactivity disorder, and obsessive compulsive disorder. Transl Psychiatry;2025 (Aug 30);15(1):333.

In neurodevelopmental research, within-diagnosis heterogeneity and across-diagnosis overlap necessitate a shift from case-control designs to data-driven clustering approaches. However, our understanding of the replicability of these clustering structures across independent datasets remains limited. Our objective was to examine the replicability of clustering structure in measures of brain morphology in neurodiverse children across two independent datasets, namely the Province of Ontario Neurodevelopmental Disorder (POND) Network and the Healthy Brain Network (HBN). POND and HBN data were collected across various institutions in Ontario, Canada, and New York, United States, respectively. Participants were 5-19 years old and had diagnoses of autism, attention deficit/hyperactivity disorder (ADHD), obsessive compulsive disorder (OCD), or were neurotypical. We used measures of cortical volume, surface area, cortical thickness, and subgroup volume from structural MRI data. Principal component analysis (PCA) and clustering were used to examine the replicability of clustering structures across the datasets. Correlations among principle components, measures of clusterability, and alignment between the four brain measures as well as male/female subsets were examined. Brain-behaviour associations were examined using univariate and multivariate approaches. The POND dataset included 747 participants with (autism n = 312, ADHD n = 220, OCD n = 70, neurotypical n = 145). The HBN dataset included 582 participants (autism n = 60, ADHD n = 445, OCD n = 19, neurotypical n = 58). Our results showed significant between-dataset correlations in 82.1% of the principal components derived from brain measures. A two-cluster structure was replicated across datasets, brain measures, and the female/male subsets, however the participant composition of clusters were only aligned between cortical volume and surface area, and cortical thickness and subcortical volume. Regional effect sizes for between-cluster differences were highly correlated across datasets (beta = 0.92+/-0.01, p < 0.0001; adjusted R-squared=0.93). Data-driven clusters did not align with diagnostic labels across datasets. Brain-behaviour associations were only replicated for male subsets and subcortical volume using multivariate analysis. We found evidence of replicability of the clustering structure across two independent datasets; however, caution must be exercised in integrating multiple measures in clustering and interpretation of brain-behaviour associations.

Lien vers le texte intégral (Open Access ou abonnement)

38. Shen Y, Xie Y, Zheng Y, Zheng Y, Liu Y. Vitamin Interventions in ASD and ADHD: Systematic Review and Meta-Analysis. Neuropsychiatr Dis Treat;2025;21:1845-1855.

BACKGROUND: Vitamin interventions have emerged as a cost-effective and accessible approach to managing Autism Spectrum Disorder (ASD) and Attention-Deficit/Hyperactivity Disorder (ADHD), primarily for alleviating gastrointestinal symptoms such as constipation. Recent studies suggest vitamins may also improve core symptoms, yet most existing research focuses on comparisons between patients and healthy controls, lacking clinically relevant, evidence-based insights. METHODS: A meta-analysis was conducted using studies retrieved from PubMed, Web of Science, and the Cochrane Library, focusing on vitamin interventions in ASD and ADHD populations. RESULTS: The findings indicate that vitamin supplementation significantly improves symptoms in both ASD and ADHD. However, the effects vary by vitamin type and disorder. Vitamin B supplementation was particularly effective in reducing ASD-related symptoms, while vitamin D supplementation showed greater efficacy in improving ADHD symptoms. CONCLUSION: Different vitamins exert disorder-specific therapeutic effects, suggesting their potential role in guiding tailored clinical interventions for ASD and ADHD.

Lien vers le texte intégral (Open Access ou abonnement)

39. Shen Z, Yu CL. How Technology Advances Research and Practice in Autism Spectrum Disorder: A Narrative Review on Early Detection, Subtype Stratification, and Intervention. Brain Sci;2025 (Aug 21);15(8)

While technology has influenced today’s society in many aspects, how does it advance research and practice in the field of autism spectrum disorder (ASD)? In this article, we provide a narrative review of how technology enhances early detection, subtype stratification, and intervention of ASD through advancements in both hardware and software, including neuroimaging, telehealth, and artificial intelligence. Furthermore, given that technology has become an intrinsic part of humans’ daily lives, we discuss how technology can be considered more broadly as a sociocultural context for individuals with ASD in future assessments, diagnoses, and research.

Lien vers le texte intégral (Open Access ou abonnement)

40. Sokunbi MO, Soula O, Ochieng B, Staff RT. Wired Differently? Brain Temporal Complexity and Intelligence in Autism Spectrum Disorder. Brain Sci;2025 (Jul 26);15(8)

Background: Autism spectrum disorder (ASD) is characterised by atypical behavioural and cognitive diversity, yet the neural underpinnings linking brain activity and individual presentations remain poorly understood. In this study, we investigated the relationship between resting-state functional magnetic resonance imaging (fMRI) signal complexity and intelligence (full-scale intelligence quotient (FIQ); verbal intelligence quotient (VIQ); and performance intelligence quotient (PIQ)) in male adults with ASD (n = 14) and matched neurotypical controls (n = 15). Methods: We used three complexity-based metrics: Hurst exponent (H), fuzzy approximate entropy (fApEn), and fuzzy sample entropy (fSampEn) to characterise resting-state fMRI signal dynamics, and correlated these measures with standardised intelligence scores. Results: Using a whole-brain measure, ASD participants showed significant negative correlations between PIQ and both fApEn and fSampEn, suggesting that increased neural irregularity may relate to reduced cognitive-perceptual performance in autistic individuals. No significant associations between entropy (fApEn and fSampEn) and PIQ were found in the control group. Group differences in brain-behaviour associations were confirmed through formal interaction testing using Fisher’s r-to-z transformation, which showed significantly stronger correlations in the ASD group. Complementary regression analyses with interaction terms further demonstrated that the entropy (fApEn and fSampEn) and PIQ relationship was significantly moderated by group, reinforcing evidence for autism-specific neural mechanisms underlying cognitive function. Conclusions: These findings provide insight into how cognitive functions in autism may not only reflect deficits but also an alternative neural strategy, suggesting that distinct temporal patterns may be associated with intelligence in ASD. These preliminary findings could inform clinical practice and influence health and social care policies, particularly in autism diagnosis and personalised support planning.

Lien vers le texte intégral (Open Access ou abonnement)

41. Spencer TD, Kirby MS. Effect of Narrative Intervention with Strategy Instruction on the Listening and Reading Comprehension of Children with Autism. Behav Sci (Basel);2025 (Jul 27);15(8)

Some children with autism may require additional support to meet academic expectations for comprehension. Because an extensive set of research links oral narration to listening and reading comprehension, the promotion of narrative-based skills may be a viable intervention approach. The purpose of this study was to examine the effect of narrative intervention with explicit strategy instruction on the listening and reading retells of children with autism after hearing and decoding novel stories. Four children with autism aged 7 and 9 years old participated in this multiple baseline across participants single-case experimental design study. Behavioral therapists delivered the narrative intervention, which included explicit instruction on the use of story grammar icons, to each child individually within the course of their therapy. Results showed that all participants improved their listening (TauU ES range = 0.64-1.06) and reading (TauU ES range = 0.72-1.15) retells, but they required extended use of the icon strategy to achieve the most benefit. When icons were completely removed, three of the four participants performed above baseline levels on the listening and reading comprehension measures.

Lien vers le texte intégral (Open Access ou abonnement)

42. Tzila E, Panagouli E, Tsouka M, Oikonomou S, Koumparelou A, Tsolia M. The Impact of Anime on Children with Autism Spectrum Disorder (ASD). Children (Basel);2025 (Aug 17);12(8)

Autism Spectrum Disorder (ASD) presents unique challenges in social interaction, communication and emotional regulation. Recent research has explored the potential influence of anime consumption among children with ASD, and the current findings suggest both beneficial and adverse effects. This review examines the role of anime in fostering social learning, emotional resilience, and cognitive engagement while also addressing concerns regarding its cultivation of social withdrawal, unrealistic expectations, and over-reliance on fictional narratives. By analyzing existing literature, this paper provides insights into the nuanced relationship between anime and ASD, highlighting the possibility that patterns of engagement may be associated with both positive and negative outcomes. Understanding these dynamics is crucial for parents, educators, and clinicians seeking to support the well-being and development of children with ASD.

Lien vers le texte intégral (Open Access ou abonnement)

43. Webb SJ, Kwan B, Bernier R, Charwarska K, Dawson G, Dziura J, Faja S, Hellmann G, Jeste S, Kleinhans N, Levin A, Naples A, Sabatos-DeVito M, Şentürk D, Shic F, Sugar C, McPartland JC. Face perception, attention, and memory as predictors of social change in autistic children. J Neurodev Disord;2025 (Aug 30);17(1):54.

OBJECTIVE: Social perception and attention markers have been identified that, on average, differentiate autistic from non-autistic children. However, little is known about how these markers predict behavior over time at both short and long time intervals. METHODS: We conducted a large multisite, naturalistic study of 6- to 11-year-old children diagnosed with ASD (n = 214). We evaluated three markers of social processing: social perception via the ERP N170 Latency to Upright Faces; social attention via the Eye Tracking (ET) OMI (Oculomotor Index of Gaze to Human Faces) that captures percent looking to faces from three tasks; and social cognition via the NEPSY Face Memory task. Each was evaluated in predicting social ability and autistic social behaviors derived from parental interviews and questionnaires about child behavior at + 6 months (T3) and + 4 years (T4). RESULTS: Adjusting for baseline performance, time between measurements, age, and sex, our results suggest differential prognostic relations for each of the markers. The ERP N170 Latency to Upright Faces showed limited prognostic relations, with a significant relation to short term changes in face memory. The ET OMI was related to face memory over both short and long term. Both the ET OMI and Face Memory predicted long-term autistic social behavior scores. CONCLUSIONS: In the context of a large-scale, rigorous evaluation of candidate markers for use in future clinical trials, our primary markers had significant but small-effect prognostic capability. The ET OMI and Face Memory showed significant long-term predictive relations, with increased visual attention to faces and better face memory at baseline related to increased social approach and decreased autistic social behaviors 4 years later. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s11689-025-09646-0.

Lien vers le texte intégral (Open Access ou abonnement)

44. Young SJ, Kollárovics N, Farkas BF, Torzsa T, Cseh R, Ferenczi-Dallos G, Balázs J. Acceptability and Pilot Validation of the Diagnostic Autism Spectrum Interview (DASI-2) Compared with Clinical and ADOS-2 Outcomes. Children (Basel);2025 (Aug 4);12(8)

BACKGROUND/OBJECTIVES: There is a growing need for autism spectrum disorder (ASD) assessment tools that are diagnostically aligned, clinically usable, and accessible across diverse service contexts. The Diagnostic Autism Spectrum Interview-Version 2 (DASI-2) is a freely available, semi-structured clinical interview mapped directly to DSM-5 and ICD-11 criteria. This pilot study aimed to adapt DASI-2 into Hungarian and explore the (1) acceptability of DASI-2 administration, (2) agreement with prior clinical ASD diagnoses, and (3) relationship between DASI-2 observational ratings and ADOS-2 classifications. METHODS: Following a multistep translation procedure, DASI-2 was administered to seven children previously assessed for ASD in a multidisciplinary Hungarian clinical setting. The assessment included a parent interview, direct assessment with the child or young person, and completion of the DASI observational record (OR1-OR4). DASI diagnostic outcomes were compared with prior clinical decisions, and OR scores were analyzed in relation to ADOS-2 classifications. RESULTS: All participants completed the DASI-2 interview in full. Agreement with prior clinical diagnosis was found in six of seven cases (κ = 0.70, indicating substantial agreement). When exploring the one non-aligned case, the divergence in diagnostic outcome was due to broader contextual information considered by the initial clinical team which influenced clinical opinion. The five participants diagnosed with ASD showed substantially higher DASI observational scores (mean = 15.26) than the two who were not diagnosed (mean = 1.57), mirroring ADOS-2 severity classifications. CONCLUSIONS: These findings support the acceptability and preliminary validity of DASI-2. Its inclusive structured observational record may provide a practical complement to resource-intensive tools such as the ADOS-2; however, further validation in larger and more diverse samples is needed.

Lien vers le texte intégral (Open Access ou abonnement)

45. Zang L, Han Y, Zhang Q, Luo S, Hu Z, Xia K, Ahmed A, Tian Q. Bi-Allelic Loss-of-Function Variant in MAN1B1 Cause Rafiq Syndrome and Developmental Delay. Int J Mol Sci;2025 (Aug 14);26(16)

Rafiq syndrome (RAFQS) is a rare autosomal recessive disorder that is classified as a type II congenital disorder of glycosylation (CDG-II), and caused by MAN1B1 gene mutation. To date, 24 pathogenic MAN1B1 mutations have been reported in association with MAN1B1-CDG. However, the underlying pathogenic mechanisms remain poorly understood. In this study, we recruited a consanguineous family from Pakistan with multiple affected individuals exhibiting mild facial dysmorphism, developmental delay, and intellectual disability. Utilizing exome sequencing and homozygosity mapping, we identified a novel MAN1B1 mutation (c.772_775del) that co-segregated with RAFQS in this family. Analysis of public single-cell transcriptomic data revealed that MAN1B1 is predominantly expressed in dorsal progenitors and intermediate excitatory neurons during human brain development. Knockdown of Man1b1 in primarily cultured mouse excitatory neurons disrupted axon growth, dendrite formation, and spine maturation, and could not be rescued by truncated variants identified in the family. Furthermore, in utero, electroporation experiments revealed that Man1b1 knockdown in the murine cortex impaired neural stem cells’ proliferation and differentiation, as well as cortical neuron migration. Collectively, these findings elucidate a critical role for MAN1B1 in the etiology of RAFQS and demonstrate that loss-of-function mutation in MAN1B1 disrupt neuro-developmental processes, providing mechanistic insights into the pathogenesis of this disorder.

Lien vers le texte intégral (Open Access ou abonnement)

46. Zarokanellou V, Gryparis A, Papanikolaou K. Exploring Links Between Lexical Representations and Cognitive Skills in School-Aged Children with High-Functioning Autism Spectrum Disorder. Brain Sci;2025 (Aug 14);15(8)

Background/Objectives: The study aimed to investigate how cognitive variables (performance IQ, verbal short-term memory, working memory, and ADHD symptomatology) impact lexical representations in children with high-functioning autism spectrum disorder (HF-ASD). Methods: Participants were two groups (n1 = n2 = 20) of monolingual Greek-speaking children, aged 7 to 12 years, with and without HF-ASD matched in age, gender, and cognitive skills. Results: Overall, the HF-ASD group had more immature lexical representations than the control group, even though the two groups were similar in naming. In both groups, naming was correlated moderately with verbal short-term memory but only age predicted significantly semantic knowledge. In the ASD group, a bilateral predictive relationship was revealed between output motor programming skills and stored phonological knowledge, supporting theoretical assumptions of the psycholinguistic model of speech. Finally, a different pattern of interrelations was observed between cognitive and lexical variables in the two groups. Conclusions: The findings of the current study indicate that ASD children may map and process new vocabulary differently compared to typically developing peers.

Lien vers le texte intégral (Open Access ou abonnement)

47. Zhang F, Xu W, Tang Q, Huang J. The identification of metabolites from gut microbiota in autism spectrum disorder via network pharmacology. Sci Rep;2025 (Aug 28);15(1):31765.

Autism spectrum disorder (ASD), a neurodevelopmental disorder affecting 1% of the global population, is increasingly associated with dysregulation of the microbiota-gut-brain axis. While genetic and environmental factors have been well-studied, the role of gut microbial metabolites in the pathogenesis of ASD remains underexplored. In this study, we integrated network pharmacology, molecular docking, and multi-database analysis to elucidate the molecular mechanisms by which gut microbiota-derived metabolites regulate ASD. Utilizing the gutMGene, GeneCards, and OMIM databases, we identified 51 core targets that intersect with ASD-related genes and gut metabolite targets. Validation of four topological algorithms (Degree, EPC, MCC, MNC) identified AKT1 and IL6 as key pivotal genes, as revealed by protein-protein interaction (PPI) network analysis. Functional enrichment highlighted important associations with the PI3K/Akt and IL-17 signaling pathways. The Microbiome-Metabolite-Target-Signaling (MMTS) network linked eight key metabolites (e.g., short-chain fatty acids, indole derivatives) to AKT1/IL6 regulation. Drug similarity and toxicity assessments confirmed the safety of short-chain fatty acids (acetate, butyrate, propionate) and indole derivatives of the selected metabolites. Molecular docking revealed a strong binding affinity between glycerylcholic acid (AKT1: – 10.2 kcal/mol) and 3-indolepropionic acid (IL6: – 4.9 kcal/mol), suggesting that they are closely related to ASD. This study provides a new research direction on the relationship between microbial metabolites and ASD and gives better help to future researchers.

Lien vers le texte intégral (Open Access ou abonnement)