Pubmed du 28/10/25
1. Zhou X, Su H, Chen J, Liu L, Zhou Q, Xia X, Wang J. Enteromorpha prolifera Polysaccharides Alleviate Valproic Acid-Induced Neuronal Apoptosis in a Cellular Model of Autism Spectrum Disorder. Curr Issues Mol Biol. 2025; 47(10).
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by social/communication deficits and behavioral abnormalities, with neuronal apoptosis and immune-inflammatory dysregulation implicated in its pathogenesis. Marine-derived polysaccharides, particularly those from Enteromorpha prolifera (PEPs), exhibit neuroprotective and anti-inflammatory properties-yet their therapeutic potential for ASD remains unexplored. Major monosaccharide components of PEPs were identified as rhamnose, xylose, glucose, glucuronic acid, galactose, and ribose through ion chromatography analysis. Infrared spectroscopy confirmed PEPs as pyranose-type polysaccharides with α-glycosidic bonds and uronic acids, while gel permeation chromatography showed a predominant molecular weight of 3.813 kDa (83.919%). To explore the therapeutic potential of PEPs in ASD, a comprehensive method combining network pharmacology, molecular docking, and in vitro validation was conducted. A total of 235 ASD-related target proteins were predicted, with enrichment analyses indicating significant involvement in pathways such as neuroactive ligand-receptor interaction and the MAPK signaling pathway. In vitro assays using valproic acid (VPA)-induced HT22 neuronal cells showed that PEPs significantly attenuated apoptosis. Western blot analysis further confirmed the downregulation of HSP90AA1, cleaved CASP3/pro-CASP3, p-NF-κB1/NF-κB1, p-AKT1/AKT, and p-mTOR/mTOR, as well as the upregulation of IκBα after PEPs treatment. These findings suggest that PEPs exert neuroprotective effects through the modulation of apoptosis and inflammation-related signaling pathways, supporting their potential as a promising candidate for further study in ASD.
Lien vers le texte intégral (Open Access ou abonnement)
2. Zhang X, Luo W, He K, Li Y, Chen Y, Xu Z, Zhou ZK. IL-6 Inhibition Partially Ameliorates Maternal Immune Activation-Induced Autism-Like Behavioral Abnormalities in Mice. Curr Issues Mol Biol. 2025; 47(10).
Prenatal maternal immune activation (MIA) has been implicated in autism spectrum disorder (ASD) pathogenesis, with interleukin-6 (IL-6) identified as a key inflammatory mediator. We investigated the therapeutic potential of IL-6 inhibition in an MIA mouse model induced by Toxoplasma gondii soluble tachyzoite antigen (STAg). Adult MIA offspring received systemic administration of the IL-6-neutralizing antibody (MP5-20F3) or isotype control, followed by behavioral assessments one week later. Open field and elevated plus maze tests revealed heightened anxiety-like behaviors in the STAg offspring, which were largely reversed by IL-6 inhibition. Reciprocal social interaction tests showed diminished sociability in the STAg offspring, which was partially restored by IL-6 inhibition. However, core ASD-like features, including impaired social preference and recognition in the three-chamber test, as well as increased repetitive behaviors, remained resistant to IL-6 inhibition. These findings demonstrate that STAg-induced MIA elicits anxiety-like and ASD-like phenotypes in adult offspring, with IL-6 playing an important role in anxiety-like behaviors and social interaction deficits. Systemic IL-6 inhibition partially ameliorates behavioral abnormalities. This study suggests that IL-6-targeted therapies may address a subset of ASD-related symptoms, and comprehensive strategies are needed for broader efficacy.
Lien vers le texte intégral (Open Access ou abonnement)
3. Xia X, Zhou X, Ma Z, Liu L, Wang Y, Wu Y, Zhang Y, Wang J. Contributions of Retinoid Signaling to Autism-like Behaviors Induced by Early Postnatal Lead Exposure in the Mouse Cerebellum. Curr Issues Mol Biol. 2025; 47(10).
Autism spectrum disorder (ASD) is a group of neurodevelopmental dysfunctions characterized by a heterogeneous etiology that involves gene-environment interactions. Early postnatal lead (Pb) exposure has been found to be associated with the etiology of ASD, but the mechanisms remain unclear. The present study aims to investigate the effects of early Pb exposure on the emergence of ASD-like behaviors in offspring and to evaluate its potential relationship with morphological changes and underlying mechanisms in the cerebellum. The study established a mouse model to study early postnatal Pb exposure and examined ASD-like behaviors through the open field test, novel object recognition test, marble burying test, and three-chamber social test. Quantification of Pb levels was performed in cerebellar tissue, examination of Purkinje cell morphology was carried out, and identification of differential protein expression was conducted using TMT-based quantitative proteomics. The study revealed that the offspring of Pb-exposed mice showed significant social deficits, increased repetitive behaviors, and cognitive impairments. The cerebellum showed both elevated Pb levels and a reduction in Purkinje cells. Proteomic analysis identified 45 proteins that were differentially expressed, showing disruption in the retinoid signaling pathway. These findings demonstrate that early postnatal Pb exposure leads to ASD traits and that retinoid signaling may be a key pathway in the cerebellum, at least in part.
Lien vers le texte intégral (Open Access ou abonnement)
4. Woodruff Jameson A, Kelley C, Westmark D, Willett S, Snyder K. Interventions to increase cervical screening rates for women with intellectual and developmental disabilities: a scoping review. J Intellect Dev Disabil. 2025: 1-11.
Background: Women with intellectual and developmental disabilities face barriers to cervical screening. This scoping review charts the literature on interventions designed to improve cervical screening receipt and knowledge in this population. Method: A systematic search of Embase (Elsevier), PubMed.gov, CINHAL (EBSCO), and Scopus (Elsevier) yielded 199 results, six of which met the inclusion criteria of women aged 21-65 years with intellectual and developmental disabilities, intervention studies, and outcomes of cervical screen receipt or knowledge. Results: All interventions, using the socioecological model (SEM) as a framework, reported an increase in receipt or knowledge of cervical screening. Interventions at the individual, interpersonal, and organisational levels of the SEM included education, physical therapy, health assessment programs, provider accompaniment, and screening adaptations. Conclusion: There are interventions that have potential to address disparities in cervical screening for women with intellectual and developmental disabilities. More research would help identify which women would benefit from interventions.
Lien vers le texte intégral (Open Access ou abonnement)
5. Westgate V, Thompson C, Caramaschi D, O’Mahen G. « I ask them what autism means for them »: a qualitative study of staff experiences of working with autistic women and birthing people in community perinatal mental health teams. BMC Psychiatry. 2025; 25(1): 1024.
BACKGROUND: Autistic women and birthing people (AWBP) face an increased risk of perinatal mental health issues and may be referred to Community Perinatal Mental Health Teams (CPMHTs). However, staff members of CPMHTs often lack sufficient training and knowledge about autism, leading to barriers in providing appropriate care. To date, no studies have examined the experiences of staff supporting autistic women and birthing people within CPMHTs. METHODS: We carried out individual qualitative interviews with 20 staff members from different professional backgrounds across four CPMHTs in England to understand their experiences working with AWBP and to identify how CPMHTs could better meet their needs. Thematic analysis was used to synthesise findings. RESULTS: We identified four key themes: (1) recognizing the complexities of AWBP, (2) addressing the unique needs of AWBP (3) varying levels of knowledge and understanding across both the CPMHTs and individual clinicians, and (4) envisioning improvements for the future. Staff reported that working with AWBP was an unexpected aspect of their roles, further complicated by difficulties in accessing autism assessments for those who had not yet received a formal diagnosis. They highlighted both barriers to providing appropriate care and the adjustments they could make to improve their practice. Additionally, staff expressed a need for targeted training and suggested other areas for development, including appointing an autism champion, employing autistic peer support workers, and involving individuals with lived experience of autism and perinatal mental health challenges in co-producing service improvements. CONCLUSIONS: Working with AWBP is a current area of challenge for CPMHTs. Perinatal-focused autism training and expert supervision are important for staff to feel confident in making appropriate adaptions to care to provide the best possible support.
Lien vers le texte intégral (Open Access ou abonnement)
6. Warrick JE, Attili D, van Eeuwen T, Pastore B, Hoffmann-Weitsman SE, Forsyth NC, Tang W, Barmada SJ, Kearse MG. An autism spectrum disorder mutation in Topoisomerase 3β causes accumulation of covalent mRNA intermediates by disrupting metal binding within the zinc finger domain. Nucleic Acids Res. 2025; 53(20).
The loss and mutation of Topoisomerase 3β (TOP3B), the only known eukaryotic topoisomerase with the ability to catalyze RNA strand passage reactions, is linked to schizophrenia, autism, and intellectual disability. Uniquely, TOP3B primarily localizes to the cytoplasm and has been shown to regulate translation and stability of a subset of mRNA transcripts. Three neurological disease-linked de novo TOP3B point mutations outside of the active site have been identified but their impact on TOP3B activity in cells remains poorly understood. Upon establishing a new Neuro2A cell-based TOP3B activity assay, we provide genetic and biochemical evidence that the autism-linked C666R mutation causes accumulation of unresolved TOP3B•mRNA covalent intermediates by directly disrupting metal coordination via an atypical D1C3-type metal binding motif within the zinc finger domain. Furthermore, we show that primary neurons are sensitive to TOP3B•mRNA covalent intermediates, including those formed by the C666R mutant TOP3B, and that such adducts are capable of causing ribosome collisions. Together, these data identify a previously underappreciated role of the zinc finger domain and how non-active site disease-linked mutations affect TOP3B activity and neuronal toxicity.
Lien vers le texte intégral (Open Access ou abonnement)
7. Wang J, Zhou XL, Ma ZH, Liu L, Zhou Q, Wen JW, Wen JH, Su H, Zhang YH, Xia XC. Cerebellar Mechanisms Underlying Autism-like Cognitive Deficits in Mouse Offspring with Prenatal Valproic Acid Exposure. Toxics. 2025; 13(10).
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by impairments in social communication and repetitive behaviors, involving various brain regions. Emerging evidence highlights the critical role of the cerebellum in the pathophysiology of autism; however, the underlying molecular mechanisms remain poorly understood. This study aimed to establish a prenatal valproic acid (VPA)-induced mouse model of ASD and explore the potential molecular mechanisms underlying cerebellar ASD-like phenotypes through DIA-based proteomics and bioinformatics analyses. Significant cognitive impairment and anxiety-like behaviors were detected using an open field test and novel object test following VPA exposure, respectively. Additionally, reduced numbers of Purkinje cells with irregular arrangement were observed in the cerebellum. Furthermore, cerebellar proteomics analyses revealed that they identified 193 differentially expressed proteins (DEPs) involved in multiple pathways, including axon guidance, glutamatergic synapse, long-term potentiation, and calcium signaling, among others. Notably, dysfunction of glutamate receptor signaling and disruptions in axon-guidance signaling appear to be major molecular mechanisms underlying cerebellar impairment. Together, these findings suggest that Grin2b may serve as a critical molecule linking synaptic neurotransmission and neurodevelopmental disorders. Thus, Grin2b may represent a potential therapeutic target for addressing cognitive impairment in ASD.
Lien vers le texte intégral (Open Access ou abonnement)
8. Szubielska M, Trawiński T. Seeing beyond the image: Contextualising autism in art to shape aesthetic experience. Perception. 2025: 3010066251387847.
We explored whether providing information that artistic photography depicts individuals on the autism spectrum and their special interests influences viewers’ preferences. Our findings demonstrated a positive impact of providing such information on participants’ ratings of aesthetic emotions and judgments. The present study suggests that artistic activities showing autistic individuals can serve as positive self-advocacy tools when framed by contextual information.
Lien vers le texte intégral (Open Access ou abonnement)
9. Robinson M, Wettschurack K, Halurkar MS, Chen X, Zhang Z, Zhang J, Yang Y. Precision medicine for sodium channelopathy-related autism and epilepsy. Trends Mol Med. 2025.
Precision medicines for monogenic brain disorders are rapidly advancing. Voltage-gated sodium channel (VGSC) genes are the leading monogenic cause of severe epilepsy and profound autism spectrum disorder (ASD), most notably SCN1A, SCN2A, SCN3A, and SCN8A. Recent advances in animal and human induced pluripotent stem cell (hiPSC) disease models provide a powerful platform for advancing precision medicines. Thanks to the genomic revolution, many gene therapies are in preclinical studies and clinical trials for VGSC-related diseases, including viral vector gene replacement, clustered regularly interspaced short palindromic repeats (CRISPR) base editing, prime editing, and genetic modulation strategies including antisense oligonucleotides, engineered tRNAs, and CRISPR activation/interference (CRISPRa/i). This review highlights the latest advances in disease modeling and next-generation therapeutic development to advance precision medicine for VGSC-related brain disorders.
Lien vers le texte intégral (Open Access ou abonnement)
10. Pavlopoulou G, Chandler S, Lukito S, Kakoulidou M, Matejko M, Jackson I, Balwani B, Boyens T, Poulton D, Harvey-Nguyen L, Glen Z, Wilson A, Ly E, Macauley E, Hurry J, Baker S, Sonuga-Barke EJS. Situating emotion regulation in autism and ADHD through neurodivergent adolescents’ perspectives. Sci Rep. 2025; 15(1): 37464.
Accounts of emotional dysregulation in autism and ADHD are typically based on external adult observations anchored in neurotypical notions of appropriate emotional responses1. These often fail to account for neurodivergent people’s efforts to regulate in the context of the upsetting experiences they face, and to explore how neurodivergent young people manage emotional burden or find effective strategies to reduce distress and increase resilience. We interviewed 57 adolescents (11-15 years; 19 females) with diagnoses of ADHD (n=24), autism (n=21) or both (n=12), about their experience of upsetting events using a codesigned semi-structured interview schedule. We analysed data using reflexive thematic analysis which generated shared themes with diagnostic nuances. Three themes were found: (1) What helps prevent experiences from becoming upsetting, (2) Managing emotional responses during periods of upset and (3) Leveraging own strengths. Participants highlighted the importance of consistent, neurodivergent-affirming environments, flexible supports, and being genuinely accepted. Autonomy in choosing self-regulation strategies, co-regulation and expressing distress without stigma were key to emotional wellbeing. These findings underscore the value of stable, trusting relationships and the need for predictable routines. Results offer actionable insights for educators, caregivers, and professionals aiming to foster inclusive, emotionally supportive environments for neurodivergent youth.
Lien vers le texte intégral (Open Access ou abonnement)
11. 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)
12. Osredkar J, Kumer K, Jekovec Vrhovšek M, Čuturić L, France Štiglic A, Fabjan T. Urinary Porphyrin Profiles and Trace Element Imbalances in Children with Autism Spectrum Disorders: Insights into Environmental and Metabolic Biomarkers. Int J Mol Sci. 2025; 26(21).
Porphyrins are intermediates in heme biosynthesis and have been proposed as biomarkers of metabolic dysfunction and environmental exposure in autism spectrum disorder (ASD). This study aimed to evaluate urinary porphyrin fractions and trace element ratios in children with ASD compared to neurotypical controls. Urinary porphyrins were quantified using high-performance liquid chromatography (HPLC), and trace elements were measured via inductively coupled plasma mass spectrometry (ICP-MS) normalized to urinary creatinine. Trace element ratios (e.g., Zn/Cu, Se/Pb) were calculated. Statistical comparisons were made using the Mann-Whitney U-test. Children with ASD showed significantly elevated urinary levels of coproporphyrin (median: 1.94 µg/g creatinine vs. 1.32 in controls; p = 0.02) and pentacarboxyporphyrin (0.86 vs. 0.57; p = 0.01), and reduced hexacarboxyporphyrin (0.12 vs. 0.23; p = 0.03). Lead (Pb) levels were significantly higher in ASD (median: 1.96 µg/g creatinine vs. 0.82; p = 0.004), while mercury (Hg) was not significantly different. Several trace element ratios differed significantly: Zn/Cu (ASD 41.9 vs. controls 49.1; p = 0.021), Se/Pb (12.9 vs. 25.7; p = 0.002), Cu/Se (0.49 vs. 0.38; p = 0.008), and Zn/Pb (19.5 vs. 44.8; p = 0.002). The Hg/Se ratio did not differ significantly.: Children with ASD demonstrate altered porphyrin profiles and trace element imbalances, including increased Pb and disrupted Zn/Cu and Se/Pb ratios, indicating oxidative stress and impaired detoxification. Combined assessment of porphyrins and trace element ratios may provide valuable non-invasive biomarkers for environmental and metabolic disturbances in ASD.
Lien vers le texte intégral (Open Access ou abonnement)
13. Osredkar J, Fabjan T, Kumer K, Jekovec-Vrhovšek M, Giebułtowicz J, Bobrowska-Korczak B, Avguštin G, Godnov U. Urinary Uremic Toxin Signatures and the Metabolic Index of Gut Dysfunction (MIGD) in Autism Spectrum Disorder: A Stool-Phenotype-Stratified Analysis. Int J Mol Sci. 2025; 26(21).
Gut-derived uremic toxins may play a key role in neurodevelopmental conditions such as autism spectrum disorder (ASD) via host-microbe metabolic interactions. We evaluated five uremic toxins-p-cresyl sulfate (PCS), indoxyl sulfate (IS), trimethylamine N-oxide (TMAO), asymmetric dimethylarginine (ADMA), and symmetric dimethylarginine (SDMA)-in urine samples of 97 children with ASD and 71 neurotypical controls, stratified by Bristol Stool Chart (BSC) consistency types. Four of these toxins (PCS, IS, TMAO, ADMA) were integrated into a novel composite biomarker called the Metabolic Index of Gut Dysfunction (MIGD), while SDMA was measured as a complementary renal function marker. While individual metabolite levels showed no statistically significant differences, group-wise analysis by stool phenotype revealed distinct trends. ASD children with hard stools (BSC 1-2) showed elevated PCS levels and the MIGD score (median 555.3), reflecting phenolic fermentation dominance with reduced indolic detoxification. In contrast, children with loose stools (BSC 6-7) had the lowest MIGD values (median 109.8), driven by higher IS and lower ADMA concentrations, suggestive of enhanced indole metabolism. These findings indicate that MIGD may serve as a novel biomarker to stratify metabolic phenotypes in ASD, linking urinary metabolite patterns to gut function. Further validation in larger and longitudinal cohorts is warranted to confirm its potential utility in precision microbiota-targeted interventions.
Lien vers le texte intégral (Open Access ou abonnement)
14. O’Shea RT, Priebe NJ, Brager DH. Impaired thalamic burst firing in fragile X syndrome. Cell Rep. 2025; 44(10): 116309.
The thalamus performs a critical role in sensory processing by gating the flow of sensory information to the neocortex and directing sensory-guided behaviors, functions that are disrupted in people with autism spectrum disorder (ASD). We have identified cellular changes in thalamic neurons in a mouse model of fragile X syndrome (FX) that alter how the thalamus transmits sensory information to neocortical circuits. In awake wild-type (WT) mice, thalamic neurons shift between two firing modes, burst and tonic, which may gate input to the neocortex. Thalamic neurons in FX mice, however, do not shift between these modes and instead fire primarily in the tonic mode. Voltage-clamp recordings reveal that macroscopic Ca(2+) currents are significantly smaller at hyperpolarized membrane potentials in FX LGN neurons compared to those of the WT. In agreement with the voltage-clamp results, we demonstrate that the Ca(2+)-dependent low-threshold spike, which underlies normal bursting, is reduced or absent at membrane potentials at or around the resting membrane potential.
Lien vers le texte intégral (Open Access ou abonnement)
15. Nematollahi M, Rigi ZE, Bagherian B, Fard SB. A journey from suffering to appreciation: mother living with autistic child- a hermeneutic phenomenological study. BMC Womens Health. 2025; 25(1): 517.
BACKGROUND: Raising an autistic child probably entails many challenges, but this issue is not always specific and may also have its advantages. To better understand the experiences of mothers in the field of raising an autistic child, this phenomenological study was conducted. METHODS: This qualitative study was conducted using a phenomenological hermeneutic approach influenced by Ricoeur in southeastern Iran. Purposeful sampling was used to obtain rich information. Eight mothers underwent in-depth and semi-structured interviews. Guba and Lincoln’s criteria were used for data accuracy and consistency. RESULTS: Three hundred fifty codes remained after constant comparison, compression, and merging. A total of three themes and nine subthemes were obtained. (1) Navigating social and emotional pressures alongside unconscious resistance to reality; this theme consisted of three subthemes: « Concerns about social commitments », « Hiding the truth » and « Feeling exhausted from the overwhelming responsibilities »; (2) Illuminating darkness of neglect and rejection by supportive bonds and collective experiences: which consisted of three sub-themes: « Learning from peers with common pain », « Being attended in supportive social organizations » and « Being supported by family and close friends » and; (3) Opening doors of perception to higher reality: expanding consciousness; which consisted of three sub-themes: « Learning to be authentic and self-respect », » Learning to live in the present moment in the light of higher power » and « Learning to live with innate intuitive child ». CONCLUSIONS: Mothers of autistic children had an appreciative approach. At first, suffering much from the social label of autism was annoying. Subsequently, the support from the Autism Centre and the opportunity to share experiences with other mothers in friendly groups enabled them to transition from a challenging situation to a more positive one. All these experiences led to the acceptance of autism and a better understanding of their child, and ultimately, the expansion of mothers’ consciousness.
Lien vers le texte intégral (Open Access ou abonnement)
16. Ndou-Chikwena NN, Sefotho MM, Ameen N. Resilient narratives of a single mother raising a child with autism spectrum disorder: A neurodiversity perspective. Afr J Disabil. 2025; 14: 1727.
BACKGROUND: Research on experiences of mothers with children living with autism spectrum disorder (ASD) has predominantly focused on psychological distress and caregiving burdens, presenting deficit-centred narratives which inadequately capture other complex narratives of single mothers. OBJECTIVES: This study explored the experiences of a South African single mother, Buhle, in raising a daughter with ASD, focusing on resilience development and acceptance within cultural contexts where ASD and her social status are misunderstood. The study adopts neurodiversity theory and the concept of resilience as its conceptual framework. METHOD: Employing an interpretivism paradigm and a single case study research design, data were collected through semi-structured and unstructured interviews. Ethics approval was obtained from the University of Johannesburg. Buhle provided informed consent, allowing her information to be used for research. RESULTS: Narrative analysis was used to delve deeply into Buhle’s personal and emotional experiences. These narrative themes emerged: navigating the initial trauma of prognosis and diagnosis, building a network of understanding, managing resources without shared responsibilities and transforming challenges to empowerment through social networking, education and advocacy. CONCLUSION: The findings challenge deficit narratives by revealing how some single mothers can foster resilience despite significant challenges in raising neurodivergent children in an African cultural context. The South African government’s provision of social and economic support also partly enables resilience. CONTRIBUTION: Community-based initiatives should boost public awareness and alleviate the cultural stigma surrounding neurodevelopmental conditions; prioritise resilience, strategy sharing, and advocacy to empower single mothers from survival to empowerment. Public healthcare support services must be improved.
Lien vers le texte intégral (Open Access ou abonnement)
17. Navarro L, Mallah NEZ, Nowak W, Pardo-Seco J, Gómez-Carballa A, Pischedda S, Martinón-Torres F, Salas A. The effect of music interventions in autism spectrum disorder: a systematic review and meta-analysis. Front Integr Neurosci. 2025; 19: 1673618.
INTRODUCTION: Several disciplines have explored the relationship between autism spectrum disorder (ASD) and music, though most insights derive from cognitive sciences. This systematic review and meta-analysis synthesize evidence on the therapeutic effects of music-based interventions (MI) on communication, behavior, social engagement, attention, and quality of life in autistic individuals. It also examines how participants perceive and process music, situating therapeutic findings within this perceptual framework. METHODS: From a total of 346 publications screened in PubMed, Cochrane Library, and WILEY Online Library databases, 120 were included, of which 15 met the criteria for quantitative evaluation and meta-analysis, to assess the state- of-the-art of research on music and autism in the fields of neuropsychology and cognitive sciences. The reviewed studies span a range of methodologies, including randomized controlled trials and qualitative research, and incorporate diverse MI strategies, such as active music-making, structured listening, and improvisational techniques. RESULTS: Despite methodological heterogeneity, the findings suggest a moderate overall beneficial effect of MI, particularly in enhancing social interaction (z = 1.89, p-value = 0.06), verbal communication-especially vowel articulation (z = 2.93, p-value = 0.01), behavior (z = 1.92, p-value = 0.06; after outlier removal), and quality of life (z = 1.67, p-value = 0.09). DISCUSSION: This study highlights music’s potential as a non-invasive, engaging therapeutic medium that elicits emotional, cognitive, and social responses in individuals on the spectrum. Given evidence of context-sensitive and domain-specific strengths in musical abilities, music emerges as a promising therapeutic approach. Future studies should investigate individual variability in response to MI, aim to standardize outcome measures, and assess long-term effects. Such efforts will support more personalized, neurodiversity-affirming therapeutic models in autism care.
Lien vers le texte intégral (Open Access ou abonnement)
18. 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)
19. Kılıçaslan F, Babacan S, Çolak B, Bayazit H, Deniz M. Facial Morphometric Features in Autism Spectrum Disorder: Preliminary Findings From Canonical Discriminant Analysis. Dev Neurobiol. 2025; 85(4): e23011.
Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by impairments in social communication and the presence of restricted, repetitive behaviors. Although there is no cure for ASD, early diagnosis and evidence-based interventions can significantly improve developmental outcomes. However, many children are diagnosed later than recommended, limiting timely access to appropriate support services. This proof-of-concept study examines whether facial morphometric characteristics, analyzed through canonical discriminant analysis (CDA), can differentiate children with ASD from their typically developing (TD) peers. The study included 40 children diagnosed with ASD and 40 age- and gender-matched TD controls. Standardized facial photographs were taken in the Frankfurt Horizontal plane in accordance with biometric photography guidelines. Anthropometric landmarks were identified, and inter-landmark distances were measured using the ImageJ software. CDA was then performed in SPSS 28.0 to develop a statistical classification model. CDA was conducted to differentiate ASD and TD groups based on facial morphometric features. While overall facial morphology alone did not significantly distinguish the groups, specific regions-particularly the eyes and lips-showed significant discriminatory power. The nasal profile demonstrated moderate differentiation, and the strongest separation was achieved when combining overall facial and organ-specific features, with a canonical correlation of 0.74 and a significant Wilks’ Lambda (Λ = 0.453, χ²(8) = 58.651, p 〈 0.001). The present findings suggest that specific facial regions, particularly the eyes and lips, may carry morphometric features that significantly differentiate children with ASD from their TD peers. While overall facial morphology alone did not provide sufficient discrimination, combining overall facial and organ-specific measurements improved group separation (canonical correlation = 0.74). These results should be regarded as preliminary, highlighting the potential of facial morphometrics as a supplementary, non-invasive research tool. External validation with larger, ethnically diverse samples remains essential before any clinical or screening applicability can be considered.
Lien vers le texte intégral (Open Access ou abonnement)
20. Hnoonual A, Arunthong W, Plong-On O, Sangmanee P, Limprasert P. Clinical Utility and Performance of Methylation-Specific Triplet-Primed PCR for Fragile X Syndrome Diagnosis. J Mol Diagn. 2025.
Fragile X syndrome (FXS) is the most common cause of intellectual disability. It is usually caused by the expansion of the CGG trinucleotide repeat (>200 repeats) in FMR1, resulting in DNA hypermethylation and gene silencing. Conventional FXS diagnosis is based on a combination of PCR and Southern blot (SB) analysis, which is technically challenging and labor-intensive. Methylation-specific triplet repeat-primed PCR (msTP-PCR) has been proposed to overcome these limitations in detecting FMR1 expansion and methylation status. However, its performance in FXS diagnosis in clinical laboratory settings has not been extensively studied. We validated and implemented an msTP-PCR assay and compared it versus the conventional diagnostic protocol in clinical samples. A total of 420 clinical samples (339 male subjects and 81 female subjects) previously genotyped for FMR1 CGG repeat expansion using reference methods (PCR-based methods and/or SB analysis) were investigated using msTP-PCR. The results showed high concordance with the reference results for allele categorization, repeat number correlation, and methylation status. However, discordant results were observed in rare cases of female patients with complex mosaic normal, premutation, and full mutation alleles, which need further confirmation via SB analysis. Nonetheless, these results confirm that the msTP-PCR method is a useful alternative technique for FXS diagnosis and prenatal testing, as it is rapid, reliable, cost-effective, and can potentially reduce the requirement for SB analysis.
Lien vers le texte intégral (Open Access ou abonnement)
21. 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)
22. Ferrante GR, Munson J, St John T, Pandey J, Zwaigenbaum L, Dager SR, Marrus N, Hazlett HC, Piven J, de la Iglesia HO, Estes A. Lunar rhythms in sleep patterns of children with a family history of autism. Sleep. 2025.
Lien vers le texte intégral (Open Access ou abonnement)
23. Ferina J, Dando E, Anderson C, Foster J, Lantz J, Hamlin T, Hahn J. Approaches for Predicting the Occurrence of Challenging Behaviors in Individuals with Autism Spectrum Disorder: A Narrative Review. J Pers Med. 2025; 15(10).
The presentation of autism spectrum disorder can be highly heterogeneous, and a significant percentage of individuals with autism exhibit challenging behaviors. However, the frequency and severity of challenging behaviors can vary significantly over time, even for the same person, and it is often unclear what triggers a behavior. Being able to predict the occurrence of challenging behaviors has significant potential for improving the safety of individuals with ASD, as well as quality of life for them and their caregivers. Given the large heterogeneity found in the presentation of autism, most predictions need to be personalized to the individual or at least a subgroup of individuals. This work reviews the state of research in the field for predicting behaviors, ranging from short-term predictions just a few moments before a behavior occurs to predicting the probability of challenging behaviors a day in advance. Several reviewed approaches provide promising initial results, but few studies have been conducted on populations large and diverse enough to determine their generalizability.
Lien vers le texte intégral (Open Access ou abonnement)
24. Dolfi A, Faur D, Scălcău MR, Chișcu A, Tudose C. Autism in Adults in Romania: Challenges in Diagnosis and Screening. Alpha Psychiatry. 2025; 26(5): 39058.
BACKGROUND: Due to the absence of validated screening tools for Autism Spectrum Disorder (ASD) in adults without intellectual or language deficits in Romania, clinicians often overlook ASD during evaluations, leading to frequent misdiagnoses. To screen for symptoms of comorbid pathologies in an ASD sample compared with a non-ASD sample using the Psychiatric Diagnostic Screening Questionnaire (PDSQ) and to establish cut-off scores for the Romanian-translated versions of the Autism Quotient (AQ) and Empathy Quotient (EQ). METHODS: The study included 143 participants, 31 diagnosed with ASD and 112 from the general population. Both groups completed the PDSQ, AQ, and EQ. Analyses focused on the factorial structure, reliability, criterion validity, sensitivity, and specificity of the AQ and EQ, as well as correlations between AQ/EQ scores and PDSQ scores. RESULTS: Higher AQ scores were associated with anxiety, trauma, and obsessive-compulsive disorder (OCD) symptoms. A cut-off score of 21 on the AQ accurately classified 100% of clinically diagnosed ASD participants and correctly identified 80% of non-ASD participants, yielding an overall accuracy of 84%. For the EQ, a cut-off score of 26 achieved the highest specificity while maintaining optimal sensitivity, with an overall accuracy of 88%. Both AQ and EQ demonstrated good internal consistency and reliability. CONCLUSION: The Romanian versions of the AQ and EQ are highly reliable screening tools for clinical use. Correlations between AQ scores and elevated anxiety, OCD, and trauma symptoms on the PDSQ highlight the importance of assessing ASD comorbidities during clinical evaluations.
Lien vers le texte intégral (Open Access ou abonnement)
25. Deng Y, Bu C, Basang Z, Zhaxi Q. A Case Report: Co-Occurrence of TNRC6B Gene Variant and Xq28 Microdeletion Syndrome With Comprehensive Literature Review. Birth Defects Res. 2025; 117(11): e2521.
BACKGROUND: TNRC6B encodes a protein crucial for RNA silencing, and heterozygous variants of TNRC6B have been associated with developmental delay/intellectual disability, speech and language delay, fine and motor delay, and a range of neurobehavioral phenotypes, including autism and attention deficit and hyperactivity disorder (ADHD). Rett syndrome (RTT) is a neurodevelopmental disorder primarily affecting girls, characterized by loss of acquired speech and motor skills, repetitive hand movements, breathing irregularities, seizures, and is a prevalent cause of intellectual disability in females. Most RTT cases are due to pathogenic variants in the MECP2 gene located at Xq28, encoding methyl-CpG binding protein 2 (MeCP2). The phenotypic spectrum of heterozygous TNRC6B variants combined with MECP2 gene deletion has not been well described. CASE PRESENTATION: A 17-month-old Chinese female patient with severe malnutrition and global developmental delay (GDD) was enrolled in this study. Whole-exome sequencing was conducted, and clinical data were obtained retrospectively from medical history and formal neuropsychological evaluation. The heterozygous TNRC6B variants (c.1409A > G; p.Asp470Ser) and a 4.066 Kb intragenic deletion of Xq28 encompassing the MECP2 gene were found. This expands the genetic spectrum of TNRC6B variants. The patient exhibited GDD, behavioral abnormalities, stunting, underweight, microcephaly and facial dysmorphism, including low-set ears, wide-set eyes, upslanting lateral canthi, underbite and hypertonia. The patient has received feeding guidance and rehabilitation training, and is currently under regular follow-up. This case broadens the phenotypic spectrum associated with TNRC6B variants and MECP2 gene deletion. CONCLUSION: This is the first report of a Xq28 microdeletion encompassing the MECP2 gene combined with heterozygous variants in TNRC6B. Our study expands the genotypic and phenotypic spectrum of TNRC6B deficiency syndrome and Rett syndrome. Our findings suggest that patients with TNRC6B and MECP2 gene deficiencies may experience more severe developmental delay and malnutrition.
Lien vers le texte intégral (Open Access ou abonnement)
26. DaWalt LS, Hong J, Gaspar CR, Woodman A, Berry-Kravis EM, Mailick MR. FMR1 Premutation Carrier Mothers’ Daily Negative Affect and Cortisol: Probing the Impacts of Stress Exposure, Coping Style, and CGG Repeats. Am J Intellect Dev Disabil. 2025; 130(6): 512-31.
This study utilized a daily diary methodology to investigate negative affect and cortisol secretion of mothers of adolescents and adults with fragile X syndrome (n = 104). We investigated whether coping style moderated the effects of child behavior problems on daily stress responses for these mothers and whether mothers with varying numbers of CGG repeats differed in the extent to which their coping style impacted daily outcomes. Results indicated that high levels of problem-focused coping buffered the effects of behavior problems on mothers’ negative affect and cortisol secretion. There was a significant interaction between CGG repeat group and coping in predicting negative affect; mothers with midrange CGG repeats were less likely to benefit from coping than those who had fewer repeats.
Lien vers le texte intégral (Open Access ou abonnement)
27. Dai B, Yuan Y, Shen Y, Li Z, Chen S, Wang Z, Zhang R, Wang C, Zheng J, Liang Q, Wang Q, Zhang Y, Zhang X, Jin Y, Wang F, Han S. A novel ASXL3 gene variant in a Chinese Boy causing Bainbridge. BMC Infect Dis. 2025; 25(1): 1409.
BACKGROUND: Bainbridge-Ropers syndrome (BRPS) is an uncommon genetic disorder characterized by developmental delay, intellectual disability, distinctive facial features, and various congenital anomalies primarily attributed to mutations in the Additional Sex Combs Like 3 (ASXL3) gene. In this case report, we employed Next-Generation Sequencing techniques for genetic analysis to investigate the clinical phenotype, imaging manifestations, and genetic characteristics of BPRS syndrome caused by ASXL3 gene mutation to enhance our understanding of BPRS and its underlying genetic factors. CASE PRESENTATION: This study presents a case of an infant male, aged 4 months and 6 days, who was referred to our hospital with symptoms including fever, cough, and wheezing. The patient had a history of constitutional weakness, previous hospitalizations for respiratory distress, and treatment with continuous positive airway pressure (CPAP). Whole exome sequencing identified a de novo heterozygous ASXL3 gene variant located on chromosome 18 (chr18:31318777-31318779; NM_030632.3; exon 11), described as c.1409_1411delinsTT (p. His470Leufs*14), resulting in a frameshift mutation leading to the diagnosis of BRPS. This variant was classified as pathogenic based on ACMG guidelines. CONCLUSION: To the best of our knowledge, this variant in the patient has not been reported previously in the literature. This study presents a novel case of the ASXL3 gene variant, emphasizing the significance of genetic analysis in patients with complex clinical presentations. Moreover, it underscores the imperative need for further research on the genetic underpinnings of rare diseases.
Lien vers le texte intégral (Open Access ou abonnement)
28. D’Mello SR. Autism Spectrum Disorder: The Cerebellum, Genes, and Pathways. Neurol Int. 2025; 17(10).
Autism spectrum disorder (ASD) is a complex, heterogenous, and prevalent neurodevelopmental disorder characterized by core symptoms, including social communication deficits, restrictive interests, and repetitive behaviors. Although environmental factors contribute to the etiology of ASD, the disorder has a strong genetic basis, although the specific genes involved in causing or contributing to the disorder remain to be conclusively identified. Whereas previous studies have focused on the cerebral cortex, hippocampus, and associated brain regions to uncover the underpinnings of ASD, emerging evidence indicates that dysfunction of the cerebellum is one of the most consistent associates of ASD. Traditionally thought to function solely in motor control, more recent studies have established that projections from the cerebellum make mono- and polysynaptic connections to a variety of non-motor areas including the cerebral cortex, hypothalamus, and hippocampus, and is involved in a range of cognitive, sensory, and behavioral functions. While several reviews of the molecular underpinnings of ASD have focused on the other brain regions, primarily the cortex, in this review we describe the key role that the cerebellum plays in the development of ASD and then focus on genetic variations that cause ASD, focusing on genes expressed and studied in the cerebellum. We have divided the ASD-associated genes in two subgroups-those that have been identified through a candidate gene approach with knowledge of their function in the cerebellum and their relationship to ASD subsequently confirmed in experimental models, and those identified through unbiased genetic analyses of individuals with ASD, many of which have not yet been characterized extensively and/or not studied in animal models. We also provide recently reported information on non-genetic factors that combine with genetic factors to promote ASD. Together, we hope our review will provide information on recent and significant findings related to the cerebellar underpinnings in ASD.
Lien vers le texte intégral (Open Access ou abonnement)
29. Chen Y, He W, Deng Q, Peng Z, Tai Z, Ma Y, Wang T, Wang Y, Yan W, Zhou H. Taurine supplementation in children with autism spectrum disorders: a study protocol for an exploratory randomized, double-blind, placebo-controlled trial. BMC Pediatr. 2025; 25(1): 871.
BACKGROUND: ASD is the most common neurodevelopment dysfunction and disabling disorder in childhood, with a lack of specific clinical treatment methods. Evidence-based study reveals that nutrients supplement can improve the core symptom of ASD. Our previous study demonstrated the children with ASD were found to have lower taurine levels in serum and urine samples. However, whether or not the taurine supplementation can improve the core symptom of ASD is unclear. METHODS: This is an exploratory randomized, double-blind, placebo-controlled trial. Sixty children with ASD will be randomly allocated to receive daily taurine supplementation (taking orally with the recommended dose) or placebo in a 1:1 ratio for 3 months. All children will receive behavioral treatment throughout the study period. All researchers, participants and their caregivers will be blinded until the completion of data analysis, and randomization and allocation will be fully concealed from all mentioned parties. Follow-up will be conducted at the baseline, 1st month, 2nd month, 3rd month, 6th month, 9th month and 12th month. The primary outcomes will focus on changes in scores of ASD-specific questionnaires. DISCUSSION: To our knowledge there are no randomized controlled trials assessing the effects of daily taurine supplementation on the core symptoms of ASD. This trial would help evaluate the efficacy of taurine supplementation on ASD, and initially explore if its potential value on clinical application outweighs the risk. TRIAL REGISTRATIONS: ClinicalTrials Registry NCT05980520. Registered on July 31, 2023.
Lien vers le texte intégral (Open Access ou abonnement)
30. Carnahan CR, Stark SS, Weinbrandt D, Norland KM, DenBleyker E. An Exploratory Investigation of the Postsecondary STEM Opportunities for People With Intellectual and Developmental Disabilities in the United States. Am J Intellect Dev Disabil. 2025; 130(6): 458-74.
This study investigates the alignment of Postsecondary Education (PSE) programs with Science, Technology, Engineering, and Math (STEM) career demands for people with intellectual and developmental disabilities (IDD) in the United States. Using a mixed methods design to explore what programs are offering STEM opportunities, a national survey was conducted with 56 PSE representatives, revealing 14 programs offering STEM experiences. Follow-up interviews provided insights into STEM pathways in these identified programs, emphasizing access to STEM for students with IDD, instruction on STEM skills and knowledge, support provided in STEM pathways, and the role of bias as a barrier to inclusion. The findings offer directions for future research on integrating STEM instruction and technical training in PSE programs for students with IDD while addressing barriers and supporting people with IDD.
Lien vers le texte intégral (Open Access ou abonnement)
31. 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)
32. Byers R, Juhasz A. Improving Health Education Evaluation for All by Promoting Accessibility for Adults With Intellectual and Developmental Disabilities. Health Promot Pract. 2025: 15248399251387142.
This article discusses the importance of accessibility in health education evaluation. The authors describe the process of adapting components of an existing evaluation and the informed consent process of a research project to maximize accessibility for individuals with intellectual and/or developmental disabilities. Adaptations were made through the application of principles of accessibility and universal design, and by working directly with people with lived experience of disability throughout the adaptation process to identify specific ways to increase accessibility of the materials. Contributions from people with lived experience of disability were crucial to the process. Implications for practice include broadening the involvement of people with disabilities in evaluation design and implementation and increasing practitioner knowledge of accessibility and universal design principles. Implications for policy include ensuring that funding mechanisms actively support inclusion of people with disabilities and the consideration that meaningful engagement of individuals with lived experience is a worthwhile process.
Lien vers le texte intégral (Open Access ou abonnement)
33. Burke MM, Ramos-Torres S, DaWalt LS, Taylor JL. Comparing Indicators of Advocacy Ability and Service Access Between Latino and White Families of Transition-Aged Youth With Autism. Am J Intellect Dev Disabil. 2025; 130(6): 490-502.
Although access to services is critical for autistic youth, families often face challenges navigating service delivery systems. Barriers to service access are compounded among Latino families. Interventions which target advocacy ability (i.e., knowledge about services, perceived advocacy skills, and empowerment) may help families access services. By comparing advocacy ability and service access between Latino and white families, unique areas of strength and vulnerability can be identified, leveraged, and targeted in interventions. In this study, 94 parents (48 white; 46 Latino) of autistic youth completed surveys about their advocacy ability and service access. White (versus Latino) participants were significantly more knowledgeable about services, comfortable with advocacy, and empowered in the community/political system. Latino (versus white) participants reported significantly greater family empowerment.
Lien vers le texte intégral (Open Access ou abonnement)
34. Bolado Peña A, Menéndez-Vega F, Van Vaerenbergh S, Arias-Pastor M, González-Bernal JJ. The Educational Inclusion of Students with Autism Spectrum Disorder: Teachers’ Feelings, Attitudes, and Concerns About Inclusion in Spain. Eur J Investig Health Psychol Educ. 2025; 15(10).
Introduction: The educational inclusion of students with Autism Spectrum Disorder (ASD) in Spain has been promoted through regulations such as LOMCE and LOMLOE. However, its effective implementation depends on teachers’ attitudes and perceptions. This study analyzes teachers’ feelings, attitudes, and concerns regarding the inclusion of students with ASD. Methods: A quantitative, descriptive, and cross-sectional study was conducted with a sample of 2310 teachers from different educational stages in Spain. The SACIE-R and INTEA questionnaires were used to assess teachers’ perceptions of inclusion. ANOVA tests and Spearman correlations were applied for statistical analysis. Results: The results show that the variable « Attitudes » follows a normal distribution, indicating a stable perception of inclusion. In contrast, the variables « Feelings » and « Concerns » present an inverse relationship: the greater the concern, the fewer positive feelings toward inclusion. Significant differences were found based on gender, type of school, educational stage, and teaching specialty. Discussion: Positive attitudes toward inclusion are associated with greater training and specialization in diversity. Special Education teachers show better perceptions, while in Secondary Education, concerns and negative feelings prevail. Continuous training emerges as a key factor in improving teachers’ perceptions. Conclusions: The study highlights the importance of training programs and support strategies to promote effective inclusion. Strengthening support networks and teacher training is recommended to improve attitudes toward the inclusion of students with ASD.
Lien vers le texte intégral (Open Access ou abonnement)
35. Black MH, Segers J, Mahdi S, Ingard C, de Puget VG, Bölte S. Resilience in neurodivergence: professional perspectives mapped to the World Health Organisations’ International Classification of Functioning. Sci Rep. 2025; 15(1): 37360.
Individuals with childhood-onset divergent neurological development, such as autism or Attention-Deficit Hyperactivity Disorder (ADHD), may live a good life according to objectively or subjectively determined standards. Yet, most research has focused on deficits and risks for negative outcomes. This international study forms part of a larger project examining the factors contributing to well-being, mental health, and functioning outcomes in neurodivergent populations using the World Health Organization (WHO) International Classification of Functioning (ICF). Following ICF research branch methodology, 198 professionals were surveyed on the factors that they believe are important for risk and resilience in neurodivergent populations and linked responses to ICF nomenclature using a standardized linking process. A range of bio-psycho-social factors perceived to be important for risk and resilience in neurodivergent populations were identified, including temperament and personality, emotional functions, the structure of the brain, financial status, recreation and leisure, and the immediate family. Most factors identified were environmental or related to activity and participation. Findings add to the limited literature on resilience in neurodivergent populations. We identify risk- and resilience-inducing factors that operate in the context of neurodivergence across the lifespan. These serve as candidates for future investigation and provide targets for intervention and social participation support.
Lien vers le texte intégral (Open Access ou abonnement)
36. Baladaniya M, Baldania S, Hait A, Choudhary AK. Dual-Task Gait and Balance Training Integrated With Sensory-Motor Interventions for Children With Autism Spectrum Disorder: A Comprehensive Narrative Review. Cureus. 2025; 17(9): e93268.
Motor impairments, common in children with Autism Spectrum Disorder (ASD), significantly affect their developmental trajectories, impacting balance, coordination, and gait. Traditional interventions often fail to address the interconnected motor, cognitive, and sensory challenges in ASD. This narrative review explores the efficacy of integrated dual-task gait and balance training combined with sensory-motor interventions, emphasizing their potential to enhance functional outcomes in children with ASD. Following the Scale for the Assessment of Narrative Review Articles (SANRA) and Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) frameworks, a comprehensive literature search was conducted on PubMed, ScienceDirect, and Google Scholar from 2010 to June 2025. The keywords with Boolean operators consisted of « autism spectrum disorder », AND « dual-task training », AND « sensory motor integration », AND « gait training », OR « balance training », OR « motor coordination ». The studies reported that integrated dual-task and sensory-motor interventions significantly improve motor proficiency, postural control, and dynamic balance, with measurable gains in standardized assessments. Technology-enhanced modalities, including virtual reality and wearable sensors, enhance engagement and enable personalized progression, fostering neuroplasticity and functional transfer to daily activities. Benefits extend to attention regulation and executive function, supported by neuroimaging evidence of enhanced prefrontal cortical activation. However, challenges include therapist training, resource limitations, and insurance barriers, necessitating innovative solutions like scalable technology and telehealth. Future research should prioritize large-scale trials, standardized measures, and long-term follow-up to optimize protocols and support widespread clinical adoption.
Lien vers le texte intégral (Open Access ou abonnement)
37. Anderle F, Barbieri R, Pasqualotto A, Bentenuto A, Venuti P. Linking cognitive flexibility, planning, and autistic traits: The mediating role of cognitive abilities. Res Dev Disabil. 2025; 166: 105136.
Autistic children often face cognitive challenges, particularly in executive functions (EFs). Previous research has explored the relationship between EFs and autistic traits, including social abilities and restricted and repetitive behaviours (RRBs). While some consistencies emerge from ecologically valid ratings, results from performance-based measures and studies combining lab tasks with parent reports remain inconsistent. This study investigated associations between EFs and autistic traits, focusing on the mediating role of cognitive abilities. We assessed 110 autistic participants aged 4-17 years (33 with IQ <85; 77 with IQ ≥85) using a comprehensive neuropsychological battery, including the Weschler Intelligence Scale for Children (WISC-IV), performance-based EF tasks (WCST, TOL), clinician ratings (ADOS-2), and parent-reported measures (SRS-2). Results showed significant links between cognitive flexibility and clinician-observed RRBs, and between planning skills and parent-reported autistic traits. Notably, cognitive abilities mediated the relationships of cognitive flexibility and planning with clinician-rated social-communication skills. Lower IQ participants performed worse on most EF measures, except for errors in shifting and planning task timing. Clinicians reported lower social scores only in the lower IQ group. These findings reveal inconsistencies in convergence between performance-based EF measures and autistic traits from parent and clinician reports. Importantly, cognitive abilities play a significant role in clinical assessments of EF and socio-communication, highlighting the need for more sensitive and ecologically valid neuropsychological tools. Conversely, cognitive skills did not influence clinician-rated RRBs or parent reports, suggesting these behaviours may be independent of broader cognitive abilities.