Pubmed du 13/10/25
1. Asar MM, Amer RAR, Kabbash IA, Abdelhay MA. Assessment of psychometric properties of autism spectrum diagnostic profile (ASDP) among Egyptian children aged 2-12 years. BMC Psychiatry;2025 (Oct 13);25(1):974.
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2. Avula S, Mandefro BT, Sundara SV, Lu X, Busmail H, Weerakoon S, Malasevskaia IA. The Impact of Early Intensive Behavioral and Developmental Interventions on Key Developmental Outcomes in Young Children With Autism Spectrum Disorder: A Narrative Review. Cureus;2025 (Sep);17(9):e92055.
Autism Spectrum Disorder (ASD) affects multiple developmental domains, and early intervention is critical for optimizing long-term outcomes. Early intensive behavioral and developmental interventions (EIBIs/EDIs), including Applied Behavior Analysis (ABA), the Early Start Denver Model (ESDM), and Pivotal Response Training (PRT), have emerged as key evidence-based strategies. This narrative review aims to evaluate the effectiveness of these interventions on cognitive, language, adaptive, and social outcomes in children under seven years of age, drawing from both primary studies and systematic reviews. Findings from meta-analyses and primary studies indicate that EIBIs and naturalistic developmental behavioral interventions (NDBIs) are associated with significant improvements in IQ (gains of 9-15 points) and language development. However, effects on core autism symptoms are more variable. Parent-mediated and lower-intensity intervention models show promise in maintaining effectiveness while improving accessibility. Despite these encouraging outcomes, variability in study designs, outcome measures, and individual responses highlights the need for more personalized approaches. The key gaps include limited long-term follow-up, inconsistent symptom reduction, and disparities in access. Future research should prioritize precision medicine frameworks, adaptive intervention models, and culturally responsive implementation strategies to enhance equity and maximize developmental potential for children with ASD.
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3. Beltran F, Stetson A, Bizimana C, Kochis M, Griggs C. Removing Barriers to Bariatric Surgery: The Role of Intellectual and Developmental Disabilities on Outcomes in Adolescents and Young Adults. Clin Obes;2025 (Oct 13):e70047.
Metabolic and bariatric surgery (MBS) is an effective means of achieving weight loss for adolescents and young adults (AYA) with obesity. Intellectual and developmental disabilities (IDD) are not absolute contraindications for MBS treatment in AYA with obesity. We sought to determine whether a diagnosis of IDD is associated with weight loss after MBS. We conducted a retrospective chart review of patients ≤ 21 years who underwent MBS at a single institution, comparing outcomes among those with IDD and those without. A total of 103 patients were included. Nine were diagnosed with IDD preoperatively: two had Autism, two had Down Syndrome and five had unspecified IDD. Preoperative BMI was comparable in patients with IDD and those without. Postoperative weight loss was equivalent between AYA with and without IDD at 12 (24.7% vs. 28.9%), 24 (30.9% vs. 25.1%) and 36 months (25.3% vs. 20.8%). At 12 months, four non-IDD patients were deficient in B1, B12 or iron, while no patients with IDD were deficient in any micronutrients. AYA patients with IDD may derive equal weight loss benefit from MBS with comparable micronutrient status. Barriers to MBS in AYA with IDD need to be addressed to expand obesity treatment.
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4. Bolk J, Lagerström I. Autism and ADHD: Could Infections Early in Life Be the Cause?. Paediatr Perinat Epidemiol;2025 (Oct 12)
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5. Cox C, Fusaroli R, Nielsen YA, Cho S, Rocca R, Simonsen A, Knox A, Lyons M, Liberman M, Cieri C, Schillinger S, Lee AL, Hauptmann A, Tena K, Chatham C, Miller JS, Pandey J, Russell AS, Schultz RT, Parish-Morris J. Social Context Matters for Turn-Taking Dynamics: A Comparative Study of Autistic and Typically Developing Children. Cogn Sci;2025 (Oct);49(10):e70124.
Engaging in fluent conversation is a surprisingly complex task that requires interlocutors to promptly respond to each other in a way that is appropriate to the social context. In this study, we disentangled different dimensions of turn-taking by investigating how the dynamics of child-adult interactions changed according to the activity (task-oriented vs. freer conversation) and the familiarity of the interlocutor (familiar vs. unfamiliar). Twenty-eight autistic children (16 male; Mage = 10.8 years) and 20 age-matched typically developing children (8 male; Mage = 9.6 years) participated in seven task-orientated face-to-face conversations with their caregivers (336 total conversations) and seven more telephone conversations alternately with their caregivers (144 total conversations, 60 with the typical development group) and an experimenter (191 total conversations, 112 with the autism group). By modeling inter-turn response latencies in multi-level Bayesian location-scale models, we found that inter-turn response latencies were consistent across repeated measures within social contexts, but exhibited substantial differences across social contexts. Autistic children exhibited more overlaps, produced faster response latencies and shorter pauses than typically developing children-and these group differences were stronger when conversing with the unfamiliar experimenter. Unfamiliarity also made the relation between individual differences and latencies evident: only in conversations with the experimenter were higher sociocognitive skills and lower social awareness associated with faster responses. Information flow and shared tempo were also influenced by familiarity: children adapted their response latencies to the predictability and tempo of their interlocutor’s turn, but only when interacting with their caregivers and not the experimenter. These results highlight the need to construe turn-taking as a multicomponential construct that is shaped by individual differences, interpersonal dynamics, and the affordances of the context.
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6. Fu X, Shi P. The intervention effect of structured martial arts games on behavioral impairments and motor functions in children with autism spectrum disorder. Front Psychol;2025;16:1660040.
OBJECTIVE: This study aims to explore the intervention effect of an intervention program based on structured martial arts games on behavioral and motor function disorders in children with autism spectrum disorder (ASD), and to provide a novel and effective intervention strategy for ASD children to enhance their rehabilitation outcomes. METHODS: A randomized controlled trial design was adopted. Fifty-six ASD children were selected from a special education school and randomly divided into an experimental group (28 people) and a control group (28 people). The experimental group received a 24-week structured martial arts game intervention, 3 times a week, 60 min each time; the control group received traditional rehabilitation training. The autism treatment evaluation checklist, autism behavior checklist, and gross motor function measure were used to evaluate the relevant indicators of the two groups of children before and after the intervention, and SPSS 26.0 software was used for statistical analysis. RESULTS: After the intervention, the improvement of the experimental group in language ability, social communication ability, perceptual ability, health behavior and total score was significantly better than that of the control group (p < 0.05). The experimental group was significantly better than the control group in sensory ability, social ability, motor ability, language ability, self-care ability and total score (p < 0.05). The improvement of the experimental group in lying and rolling, sitting, crawling and kneeling, standing, walking, running and jumping, and total score was significantly higher than that of the control group (p < 0.05). CONCLUSION: The structured martial arts game intervention can effectively improve the behavioral and motor disorders of ASD children. This intervention method is both interesting and structured, and can be used as a new approach for the rehabilitation of ASD children. It is recommended to incorporate it into the regular curricula of special education schools and rehabilitation institutions.
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7. Guo Z, Chen R, Xiao S, Sun S, Chen G, Chen P, Tang X, Huang L, Wang Y. Distinct and similar multimodal brain alterations of function and structure in autism spectrum disorder and obsessive-compulsive disorder. J Psychiatr Res;2025 (Sep 30);191:617-627.
BACKGROUND: Resting-state functional and structural brain alterations in autism spectrum disorder (ASD) and obsessive-compulsive disorder (OCD) are commonly reported, thus necessitating a meta-analysis to summarize their shared and distinct alterations. METHODS: We conducted a whole-brain meta-analysis to identify resting-state regional homogeneity (ReHo) and gray matter volume (GMV) alterations between ASD/OCD and neurotypical control participants (NCs). RESULTS: We included 17 ReHo studies of ASD and 18 ReHo studies of OCD for functional analysis, and 52 studies of ASD and 62 studies of OCD for structural analysis. Overall, ASD individuals demonstrated decreased ReHo mainly in the left insula and inferior frontal gyrus (IFG). OCD individuals demonstrated increased ReHo mainly in the left IFG, insula, and bilateral anterior cingulate cortex/medial prefrontal cortex (ACC/mPFC). ASD individuals displayed decreased GMV in the left cerebellum, and OCD individuals displayed decreased GMV in the bilateral IFG, insula, and ACC/mPFC. Overlapping analysis revealed that ASD and OCD exhibited convergent ReHo changes in the left IFG and insula. Furthermore, both functional and structural alterations in ASD and OCD were spatially associated with serotonergic, dopaminergic, GABAergic, and glutamatergic neurotransmitter systems in the brain. CONCLUSIONS: The multimodal meta-analysis identified distinct and similar patterns in the functional and structural alterations in ASD and OCD individuals, and found alterations associated with neurotransmitter systems in the brain.
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8. He J, Hu Q, Wang S, Gong X, Gan N, Huang L, Chen H, Dai J, Yu H, Xiang S, Peng X. Identifying Immune-related Molecular Biomarkers in Autism Spectrum Disorder Using Data-independent Acquisition Proteomics and Machine Learning. J Vis Exp;2025 (Sep 26)(223)
This study presents a reproducible protocol for identifying serum protein biomarkers associated with autism spectrum disorder (ASD) using data-independent acquisition (DIA) mass spectrometry combined with machine learning (ML). DIA enables unbiased, high-resolution profiling of the serum proteome, including low-abundance proteins, while ensuring reproducibility across samples. ML approaches were applied to select diagnostically informative protein panels and improve model robustness. The analysis included serum from 99 children with ASD and 70 age-matched controls. High-abundance proteins were depleted, peptides were prepared using standardized digestion and fractionation procedures, and DIA was performed on a high-resolution mass spectrometer. Data processing and quantification identified differentially expressed proteins, which underwent functional enrichment analysis. Eight immune-related proteins emerged as strong candidates for biomarker development. A logistic regression model trained on these proteins achieved 95.27% accuracy, a Kappa value of 0.9025, and an AUC of 1.000 in cross-validation. These findings demonstrate the potential of DIA-based proteomics, combined with machine learning, as a robust framework for biomarker discovery in ASD and for adaptation in broader clinical research.
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9. Koche S, Gajghate M, Dixit M, Kale M, Taksande B, Umekar M, Trivedi R. A narrative exploration of oxytocin and anxiety in autism spectrum disorder. Brain Res;2025 (Oct 10):149991.
This review aims to critically examine the role of oxytocin in modulating anxiety within autism spectrum disorder by integrating molecular insights with clinical observations. A qualitative thematic analysis was undertaken, drawing on preclinical studies, genetic findings, and clinical trials published over the past two decades, with particular focus on oxytocin signalling pathways, receptor polymorphisms, and therapeutic applications. The analysis highlights that dysregulation of oxytocin levels, together with variations in the oxytocin receptor gene, contribute to heightened anxiety and social impairments in autism. Evidence from animal models and human studies indicates that exogenous oxytocin can reduce anxiety symptoms and improve social behaviours, though outcomes vary depending on genetic background, developmental stage, and methodological design. The review identifies heterogeneity in clinical phenotypes, short trial durations, and limitations in delivery systems as major obstacles to therapeutic translation. Taken together, the synthesis underscores the need for personalized approaches that combine biomarker identification, genotype-specific targeting, and optimized delivery methods. The central message is that while oxytocin holds promise as an anxiolytic agent in autism, its clinical utility depends on a rigorous translational framework that accounts for biological diversity and evidential sufficiency.
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10. Liyew WA, Moges A, Girma F, Abebe W, Afework M. Investigation of the underlying factor structures of social interaction impairments in children diagnosed with autism spectrum disorder at autism centers, Addis Ababa, Ethiopia: principal component analysis of the autism treatment evaluation checklists. Pan Afr Med J;2025;51:81.
INTRODUCTION: social interaction impairments are the main feature of individuals diagnosed with autism spectrum disorder (ASD), making it a significant area of concern for both the children affected and their families. This study aimed to investigate the underlying factor structures of social interaction impairments in children diagnosed with autism spectrum disorder at autism centers in Addis Ababa, Ethiopia. METHODS: a cross-sectional study was conducted among 145 children diagnosed with autism spectrum disorder. Various traits of social interaction impairments associated with autism were measured using the Autism Treatment Evaluation Checklist. A principal component analysis (PCA) employing a varimax rotation was used to identify the underlying factor structures of social interaction impairments. RESULTS: six-factor structures of social interaction impairments were identified: challenges in interpersonal relationships and affection (eigenvalue: 4.99, variance: 13.437%), emotional insensitivity (eigenvalue: 1.714, variance: 11.837), poor gesture and attention (eigenvalue: 1.648, variance: 10.652), social withdrawal (eigenvalue: 1.40, variance: 8.932), behavioral resistance (eigenvalue: 1.270, variance: 8.011), and limited sharing (eigenvalue: 1.044, variance: 6.771). These factors accounted for approximately 60% of the total variance. CONCLUSION: the social interaction impairments in autism are multidimensional, presented in six distinct patterns. It is important to consider these patterns when supporting children with autism spectrum disorder.
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11. Long L, Zhang H, Liu J, Zhou J, Bao P. Behavioral Postprandial Distress in Autism Spectrum Disorder: Behavioral Clues Beyond Physiology. J Neurogastroenterol Motil;2025 (Oct 30);31(4):543-544.
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12. Lu YA, Lin CC, Huang YC. Case Report: A 14-year-old boy with recurrent pancreatitis and autism-response to steroid and rituximab therapy. Front Pediatr;2025;13:1594539.
We report the case of a 14-year-old boy with a history of recurrent pancreatitis, autism, and learning disabilities who presented with non-bilious vomiting, epigastric pain, and a progressively enlarging abdominal mass. He was diagnosed with IgG4-related autoimmune pancreatitis. Initial corticosteroid therapy achieved only temporary remission, with disease relapse occurring after 4 months. Rituximab was subsequently introduced, resulting in sustained disease control by depleting B lymphocytes and reducing disease flares, consistent with previous reports. The patient has remained clinically stable for 1 year. This case highlights the clinical presentation, diagnostic challenges, and therapeutic considerations of this rare condition.
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13. Meringolo M, Montanari M, D’Antoni S, Martella G, El Atiallah I, Ponterio G, Tassone A, Reverte I, Caprioli D, Strimpakos G, Pieroni L, Catania MV, Bonsi P. Impairment of Group I Metabotropic Glutamate Receptors in the Dorsal Striatum of the R451C-Neuroligin 3 Mouse Model of Autism Spectrum Disorder. J Neurochem;2025 (Oct);169(10):e70253.
Human genetics indicates enrichment of synaptic pathway-related mutations in Autism Spectrum Disorder (ASD). Accordingly, several preclinical studies have reported synaptic alterations in different brain areas of relevant ASD mouse models. In particular, we previously showed that corticostriatal long-term synaptic depression is impaired in the dorsal striatum of mice carrying the ASD-associated R451C mutation in the neuroligin3 (NL3) gene, coding for the postsynaptic protein neuroligin 3. Here, we used behavioral, proteomic, biochemical, and electrophysiological approaches to explore the dorsal striatum-dependent functions in the R451C-NL3 knock-in mouse model of ASD. A detailed behavioral analysis confirmed striatum-dependent alterations in these mice. We further explored the synaptic function in the dorsal striatum, revealing modifications of the glutamatergic postsynaptic density protein composition and the impairment of different forms of corticostriatal long-term synaptic plasticity involving the activation of group I metabotropic glutamate receptors, namely activity-dependent depression and potentiation, and pharmacological 3,5-DHPG-induced synaptic depression. Notably, activation of group I metabotropic glutamate receptors was not able to potentiate NMDA receptor-mediated currents despite unaltered kinetics of the ionotropic receptors. Protein expression levels of type 5 metabotropic glutamate receptors were reduced at striatal synapses. Overall, our findings point to a significant impairment of metabotropic glutamate receptor type 5 signaling in NL3 knock-in mice, affecting the dorsal striatum circuitry, which is implicated in autism-related behaviors.
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14. Pliska L, Kunina-Habenicht O, Ritterfeld U. Media use among children with ASD: Perspectives and concerns of parents. PLoS One;2025;20(10):e0332504.
Digital media is a significant part of daily life for both adults and children, raising concerns among parents about its impact on child development, particularly for those with autism spectrum disorder (ASD). This study explores the differing perspectives and concerns of parents with and without ASD regarding their children’s media use. A total of 117 parents of children with ASD and 58 parents of typically developing (TD) children participated in an online survey. The study employed group comparisons, correlations, and hierarchical regressions. Results show that parents of children with ASD expressed greater concern about media use compared to TD parents, especially regarding potential negative effects on health and behavior. However, these concerns did not extend to child development or intensification of ASD symptoms. Key predictors of parental concern included challenges in limiting media use, perceptions of media preference and addiction, and children’s ability to cope without media. While parents of children with ASD have notable concerns about media use, these are not excessively pronounced compared to TD parents. Many report allowing digital media as a means for self-regulation in their children. Future research should also examine positive aspects of digital media usage as potential influencing factors.
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15. Rigoutsos I, Nersisyan S, Londin E, Nazeraj I, Dong B, Vourekas A, Loher P. Organism-Specific Sequence Motifs Link Ribosomal RNAs to Brain Disorders. Mol Biol Evol;2025 (Oct 1);42(10)
We report that in humans, mice, fruit flies, and worms, the ribosomal RNAs and the transcribed spacers of 45S are densely packed with organism-specific sequence motifs that are primarily shared with nervous system genes. The human ribosomal RNAs and 45S spacers contain 1,723 such motifs. Specific combinations of these motifs are predominantly found in 3,430 human nervous system genes, of which 1,046 are genes associated with brain disorders, including autism spectrum disorder and schizophrenia. The sequences of the 1,723 motifs and their locations in the introns and exons of nervous system genes are unique to primates. Experimental evidence indicates that the motifs are contact points for ribosomal-RNA|messenger-RNA and messenger-RNA|messenger-RNA heteroduplexes, present in the binding sites of many RNA-binding proteins, and carried by endogenous small noncoding RNAs. Moreover, several of the motifs’ intergenic copies overlap genome-wide association-study-determined polymorphisms associated with brain disorders and other conditions. Lastly, based on expression data from bulk brain samples from autism spectrum disorder patients and controls, specific combinations of these motifs are enriched only among genes that are downregulated in the patients and only in the cortical areas that are responsible for language, hearing, and vision. This study shows that genomic architecture, the sequences of ribosomal RNAs/spacers, and the sequences of nervous system genes have remained interlocked across 600 million years of evolution through organism-specific motifs. The findings suggest an extensive regulatory layer and can aid in developing new molecular diagnostics and treatments for disorders considered typically human.
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16. Sarne V, Huber A, Beribisky AV, Hengstschläger M, Laccone F, Steinkellner H. Optimized clonal isolation and immortalization of Rett syndrome patient fibroblasts for in vitro modeling of MECP2 mutations. Sci Rep;2025 (Oct 13);15(1):35696.
Rett syndrome (RTT) is a severe neurodevelopmental disorder primarily caused by mutations in the X-linked MECP2 gene. Patient-derived fibroblasts serve as a practical system to study systemic aspects of RTT, however, their limited proliferative capacity due to cellular senescence poses a significant challenge. In this study, we establish a robust workflow to isolate and immortalize clonal fibroblast lines from female RTT patients heterozygous for two distinct MECP2 mutations (c.705delG and 1155del32). By employing single-cell cloning prior to hTERT-mediated immortalization, we generated stable, proliferative fibroblast clones with verified clonality and severely skewed X-chromosome inactivation. Wildtype clones exclusively expressed full-length MeCP2 protein, whereas mutant clones exhibit truncated or absent MeCP2. Immortalized lines retained elevated hTERT expression and sustained proliferation even at late passages. Notably, mutant clones recapitulated key molecular features of RTT, including histone hyperacetylation, dysregulation of oxidative stress markers, and aberrant expression of key signaling genes. Our approach provides a scalable and renewable in vitro model that faithfully captures critical aspects of RTT pathology and offers a complementary platform to existing animal and iPSC based systems. Moreover, the approach is adaptable for studying other X-linked genetic disorders and supports applications in mechanistic research and preclinical drug screening.
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17. Sirhan NJ, Benard PB, Cascio MA, Ellis KR, Varriano BM, Ragina NP. Identifying Prenatal Care Barriers for Pregnant Individuals With Intellectual and Developmental Disabilities Living in Central Michigan. AJPM Focus;2025 (Dec);4(6):100407.
INTRODUCTION: Pregnancy among individuals with intellectual or developmental disabilities poses unique challenges, with studies showing higher rates of adverse outcomes. There remains a gap in understanding patient-reported barriers to accessing health care during pregnancy, especially in rural areas such as central Michigan. This study investigates the barriers to prenatal care for pregnant individuals with intellectual or developmental disabilities in central Michigan. METHODS: Using a mixed-method approach, 9 participants from the Central Michigan University Healthcare obstetrics/gynecology clinic completed a survey designed to identify specific challenges in accessing care. RESULTS: The findings revealed several motivations for seeking prenatal care, such as learning about labor and ensuring a healthy baby, but also highlighted significant barriers, including transportation issues, discomfort with male examiners, unplanned pregnancies, and depression. CONCLUSIONS: The study underscores the need for tailored educational resources and integrated mental health support to address these challenges. Despite recruitment difficulties due to the population’s limited visibility and interaction with healthcare systems, the study provides valuable insights into the complex and intersecting factors affecting healthcare access for this vulnerable demographic. The results emphasize the necessity for further research with larger sample sizes to develop comprehensive strategies that ensure equitable prenatal care access for pregnant individuals with intellectual or developmental disabilities.
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18. So WC, Wong E, Ng W, Lay S, Wong W, So MT, Lee XH, Lee YY. Development and evaluation of robotic detection technology for assessing autism. Front Psychiatry;2025;16:1636560.
OBJECTIVE: An objective and standardized assessment for assessing autism is needed. This study aimed to develop and validate robotic detection technology for assessing autism. The robot HUMANE, installed with computer vision and linked with face and motion recognition technology, autonomously detected atypical eye gaze and repetitive motor movements, two of the features of autism, while narrating stories. It autonomously prompted the child if they did not establish eye gaze with the robot or produced motor movements for five seconds continuously. METHOD: The study involved 119 children aged between three and six years old (M=4.53, SD=1.89; 38 females) and included children confirmed or not confirmed with autism. They all received the Autism Diagnostic Observation Schedule-second edition (ADOS‑2), the standard diagnostic tool for autism. HUMANE’s detection performance – the number of robot prompts and the cumulative duration of inattentiveness/improper posture – was then evaluated against the calibrated severity score of ADOS-2. RESULTS: Our results showed that the average sensitivity and specificity of the detection reached 0.80, the Diagnostic Odds Ratio was beyond 30, and the AUC was .85. DISCUSSION: These results indicate that the robotic detection technology of atypical eye gaze and repetitive motor movements can contribute to the diagnostic process to identify the presence or absence of autism.
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19. Susko M, Korczak DJ, Cost KT, Charach A, Crosbie J, Anagnostou E, Birken C, Monga S, Nicolson R, Arnold PD, Maguire JL, Schachar RJ, Georgiades S, Burton CL, Kelley E. Social Skills as a Predictor of Mental Health Trajectories among Autistic Youth and Youth with ADHD during the COVID-19 Pandemic. Res Child Adolesc Psychopathol;2025 (Oct 13)
Neurodiverse youth face increased mental health risks, which may make them particularly vulnerable to the effects of the pandemic. Given high rates of co-occurrence between autism and attention-deficit/hyperactivity disorder (ADHD), it is valuable to identify shared risk factors for poor mental health. The present study investigated mental health trajectories among autistic youth and youth with ADHD from Spring 2020-Spring 2023 and explored how parent-reported youth social skills predicted these trajectories. Participants included 272 youth (autism = 143, ADHD = 129) aged 8-18. Social skills were assessed in Spring 2020. Youth- and parent-reported youth anxiety and depressive symptoms were assessed at six timepoints. Results from growth mixture modelling suggest there were different mental health trajectories during the pandemic. Trajectories of increasing, decreasing, and stable scores emerged for youth- and parent-reported youth anxiety, and parent-reported youth depression. For youth-reported depression scores, only an elevated-stable trajectory emerged. Autistic youth with better social skills were more likely to have high and increasing, and medium and stable parent-reported youth anxiety over the pandemic. Additionally, autistic youth with better social skills had lower youth-reported depression scores at the start of the pandemic. For both autistic youth and youth with ADHD, higher levels of social skills were associated with a greater probability of having low and stable parent-reported youth depression scores over the pandemic. Findings provide insight into the mental health trajectories among neurodiverse youth for the entire duration of the pandemic. Results suggest that social skills may be a valuable intervention target, especially for autistic youth.
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20. Tabatadze N, Koniashvili O, Melikishvili G, Bienvenu T, Cuisset L, Tassone F, Protic DD, Naneishvili N, Zarandia M, Gverdtsiteli S, Kakabadze S, Gachechiladze T, Melikishvili M, Kuchukashvili Z, Giunashvili T, Silagava K, Mamardashvili G, Chipashvili M, Barabadze K, Abbeduto L, Hagerman RJ. Prevalence of Fragile X syndrome in Georgian patients with autism spectrum disorder and/or intellectual disability: cross-sectional study and review of current approaches. Front Pediatr;2025;13:1645386.
Fragile X syndrome (FXS) is the most common inherited form of intellectual disability (ID) and autism spectrum disorder (ASD). Despite its clinical importance, data on FXS prevalence in Georgia remains limited. This study aims to assess the prevalence of FXS in individuals with ID and/or ASD in Georgia and to review current diagnostic and management approaches. A total of 441 patients (n = 332 males and n = 109 females) diagnosed with ID and/or ASD based on DSM-5 criteria underwent genetic testing for FXS using a PCR-based approach. The FXS full mutation was identified in 25 patients (5.7%), and four individuals were carriers of the premutation. One patient had a large FMR1 deletion, thus the prevalence of the full mutation (FM) was 5.9%, and the prevalence of a premutation was 0.9%. The FXS-positive cohort showed a significant male predominance (80.77%). Among patients with ASD, 1.9% tested positive for FXS, and these individuals displayed more severe behavioral problems, requiring more intensive intervention. Phenotypic features such as a long face (76.9%), joint hypermobility (61.5%), and flat feet (53.8%) were commonly observed. The study underscores a significant diagnostic delay, with the average age of clinical ID/ASD diagnosis at 8.42 years and a lag of 4.63 years before FXS is identified. Compared to the U.S., where FXS diagnosis occurs at 35-41 months, Georgia faces significant barriers, including low awareness, lack of early screening, and limited access to genetic testing. Efforts to address these challenges include public awareness campaigns and integration of early genetic testing protocols.
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21. Taha H, Issa A, Muhanna Z, Al-Shehab M, Wadi T, Awamleh S, Ateiwi YA, Abusido M, Berggren V. Microbiota-based interventions for autism spectrum disorder: a systematic review of efficacy and clinical potential. Front Microbiol;2025;16:1648118.
PURPOSE: Autism spectrum disorder (ASD) is increasingly linked to gut microbiota imbalances, influencing both behavioral and gastrointestinal (GI) symptoms. This systematic review assesses the efficacy of microbiota-based interventions, including probiotics, prebiotics, synbiotics, and fecal microbiota transplantation (FMT), in improving ASD-related symptoms, aiming to provide insights into their therapeutic potential and inform future clinical applications. METHODS: A comprehensive systematic review was conducted following PRISMA guidelines and registered in PROSPERO (CRD42024615043). A structured literature search was performed in PubMed, Cochrane Library, and Scopus to identify peer-reviewed English-language studies. Eligible studies included randomized controlled trials (RCTs), non-randomized trials (NRTs), and retrospective studies assessing the impact of microbiota-based interventions on ASD-related behavioral and GI outcomes. Two independent reviewers conducted study selection, data extraction, and quality assessment using standardized risk-of-bias tools. RESULTS: 33 studies were included, consisting of 16 RCTs, 14 NRTs, and 3 retrospective studies. Among them, 15 assessed probiotics, 4 prebiotics, 5 synbiotics, and 9 FMT. Probiotics showed moderate behavioral improvements in ASD, with multi-strain formulations being more effective than single strains. Prebiotics and synbiotics yielded mixed results, with some studies indicating benefits in behavioral and GI symptoms. FMT demonstrated the most consistent and sustained improvements in both ASD-related behaviors and GI function. Adverse events were minimal, primarily involving transient GI symptoms. CONCLUSION: Microbiota-targeted interventions, particularly FMT, hold promise for managing ASD symptoms, though probiotics, prebiotics, and synbiotics present variable efficacy. Standardized protocols, larger controlled trials, and personalized microbiome-based approaches are necessary to refine these therapeutic strategies and enhance clinical applicability. SYSTEMATIC REVIEW REGISTRATION: https://www.crd.york.ac.uk/PROSPERO/view/CRD42024615043, identifier CRD42024615043.
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22. Varbanov V, Overton PG, Stafford T. ADHD and ASD traits are differentially associated with orientation sensitivity in a non-clinical adult sample. Front Psychol;2025;16:1632880.
OBJECTIVES: Research indicates that ADHD and ASD are associated with sensory processing difficulties. However, psychophysical testing of this has primarily focused on ASD with no equivalent research on ADHD. The relationship between ADHD, ASD and sensory processing may also be influenced by anxiety. This study investigates whether orientation discrimination performance is differentially related to ADHD and ASD traits in a non-clinical adult sample, and whether anxiety statistically explains these associations. METHODS: We measure visual orientation discrimination thresholds using a method of constant stimuli in a two-alternative forced choice paradigm with an adaptive, randomly interleaved procedure and a one up three down design. The task results are compared to reported trait expressions of ADHD, ASD and anxiety via correlational analysis. Following on this we conduct a mediation analysis to assess the possible mediating role of anxiety. RESULTS: The ADHD and ASD trait expressions were associated with similar sensory processing abnormalities. The panic and generalized anxiety traits were only specifically associated with the ADHD-Hyperactive type and respective sensory thresholds. Such effects were not observed for any ASD traits. CONCLUSIONS: These findings suggest that while both ADHD and ASD traits are linked to reduced orientation sensitivity, only ADHD traits-particularly hyperactivity-show specific associations mediated by anxiety. This points to distinct underlying mechanisms in the sensory processing profiles of ADHD and ASD, with anxiety playing a more prominent role in ADHD-related impairments.
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23. Waardenburg T, Magnée M, Teunisse JP, van der Voort M, van Dijk J. A closer look at the role of caregivers in Co-designing everyday technology for autistic young adults: A scoping review. Assist Technol;2025 (Oct 13):1-12.
Assistive technologies designed through co-design hold promise for enhancing independence and quality of life for autistic people. By actively involving stakeholders in the development process, co-design improves the relevance of assistive technologies and empowers stakeholders by providing them with a greater sense of control. Although stakeholders are increasingly involved in co-design, the involvement of caregivers in the co-design of everyday technology, representing their own needs rather than solely representing autistic end-users, is limited, despite caregivers frequently interacting with these technologies. It is essential to incorporate their preferences and wishes into the design process. The purpose of this scoping review is to explore the role of caregivers in co-designing everyday technologies with autistic young adults, as reflected in the current literature. This research provides insights into the extent and way caregivers contribute to the co-design of everyday technologies. We systematically queried seven databases, which returned 863 records after removing duplicates. Guided by the PRISMA-ScR approach, we selected 28 studies. The findings indicate that caregivers are minimally involved in the co-design of everyday technologies. If they are involved at all, it is mainly as proxies for autistic people. Future research should involve caregivers as key stakeholders when co-designing everyday technology.
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24. Wang Y, Qian Y, Guan L, Kong Y, Xia Z, Xu L, Gao J, Xia J, Fang H, Jiao G, Li Y, Ke X. Closed-loop pathways associated with clinical symptoms in children with autism spectrum disorder: a complex network analysis. Quant Imaging Med Surg;2025 (Oct 1);15(10):9921-9936.
BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by social communication deficits and repetitive behaviors. Neurobiomarkers for ASD are lacking, which hinders early diagnosis and personalized treatment. This study aimed to identify potential biomarkers for ASD using complex network analysis, specifically causal brain networks, to identify functional closed-loop pathways in the brains of children with ASD. METHODS: The study included 58 ASD patients and 57 typically developing (TD) children ages 6-12 years. Brain causal networks and temporal-lag networks were constructed using a deep learning model to infer the causal relationships between brain regions and the temporal-lag of signal transmissions. Statistical analysis was performed to compare differences between the TD and ASD groups and to identify the potential associations between different symptoms of the ASD group. RESULTS: The results revealed numerous aberrant functional pathways, mainly located in the junction of the frontal and parietal lobes, as well as the occipital lobes, in children with ASD, when compared to TD children. Three closed-loop pathways were significantly negatively correlated with the total score of the combined social-communication domain in the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2), including lenticular nucleus putamen left (PUT.L)→lenticular nucleus pallidum right (PAL.R)→PUT.L (r=-0.448, P=0.001), PAL.R→lenticular nucleus putamen right (PUT.R)→PAL.R (r=-0.362, P=0.012), and insula right (INS.R)→Heschl gyrus right (HES.R)→INS.R (r=-0.345, P=0.016). Importantly, a positive interaction among these closed-loop pathways was observed with a weak intensity, indicating that social impairments and stereotyped behaviors were interrelated with a weak effect in children with ASD. CONCLUSIONS: The study showed the potential of identifying multiple abnormal closed-loop pathways using complex network analysis in aiding early diagnosis and treatment of ASD. These findings provided insights into the neurobiological basis of social impairments and stereotyped behaviors in children with ASD, which may aid in the development of personalized interventions and therapeutic targets for this disorder.
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25. West M, Tincani M, Hantula D, Hong SR, Vucetic S, Dragut E. Applying Data Science Practices to Identify Characteristics of Postsecondary Autism Support Programs From Their Websites. J Autism Dev Disord;2025 (Oct 13)
PURPOSE: An increasing number of autistic students in the United States are seeking post-secondary education. In response, some post-secondary institutions have established Autism Support Programs (ASP) to address the comprehensive needs of this population. There is little up-to-date, comprehensive information about which institutions host these programs, what types of services they offer, and what is required to access them. METHODS: Expanding on previous research, we introduce a new method, which utilizes established data science techniques, to identify ASPs at post-secondary institutions in the U.S. Our technique also allows us to identify the characteristics of the ASPs, including admissions requirements, cost, structure, and supports offered. RESULTS: Results highlight our method is more efficient and more robust than previous methods from the literature. For example, we identify 49 schools hosting ASPs that were not identified in past literature searches. We report on the characteristics of identified ASPs such as application process, most common supports and program cost. CONCLUSION: The bi-directional change in the number of ASPs shows that this is an evolving field, requiring automated tools to enable regular updates to data. Although it is promising that a relative handful of U.S. schools have established these programs, a large majority of post-secondary institutions have not, and for those that host them, barriers to access exist, including the necessity of an ASD diagnosis, coupled with up-front and ongoing costs.