Pubmed du 02/07/25
1. Agrawal R, Agrawal R. Explainable AI in early autism detection: a literature review of interpretable machine learning approaches. Discov Ment Health;2025 (Jul 1);5(1):98.
Autism spectrum disorder (ASD) is a neurodevelopmental condition especially in children with a strong hereditary basis, making its early diagnosis challenging. Early detection of ASD enables individualized treatment programs that can improve social interactions, cognitive development, and communication abilities, hence lowering the long-term difficulties linked to the disorder. Early detection helps in therapeutic interventions, which can help children acquire critical skills and lessen the intensity of symptoms. Despite their remarkable predictive power, machine learning models are frequently less accepted in crucial industries like healthcare because of their opaque character, which makes it challenging for practitioners to comprehend the decision-making process. Explainable AI (XAI), an extension to AI, has emerged due to issues like trust, accountability, and transparency caused by the opaque nature of AI models, especially deep learning. XAI aims to make AI’s decision-making processes easier to understand and more reliable. The present study delves into the extensive applications of XAI in diverse fields including healthcare, emphasizing its significance in guaranteeing an ethical and dependable implementation of AI. The article goes into additional detail in a specialized assessment of AI and XAI applications in research on ASD, showing how XAI can offer vital insights into identifying, diagnosing, and treating autism.
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2. Aitken D, Hodge G, Page M, Lastmann E, Hiller S, George RE. Navigating medical school with autism: a systematic review exploring student experiences & support provision in the United Kingdom. BMC Med Educ;2025 (Jul 1);25(1):927.
BACKGROUND: Medical education is inherently demanding, requiring students to navigate academically challenging courses, high-stake assessments, clinical training and interpersonal interactions within high stress environments. Autistic medical students can experience profound differences academically and professionally if their support needs are not identified and addressed by specific pedagogic adaptations. This systematic review aims to explore the experiences and support provision for autistic undergraduate medical students in the United Kingdom, through a critical interpretive review of the literature. METHOD: The search strategy involved the use of 6 electronic databases, supplemented by citation tracking, consultation with academic experts and library searches. Of 400 papers, 6 satisfied the inclusion and exclusion criteria. Critical interpretive synthesis (CIS) was used to analyse these papers. The study design assimilated methods adopted in conventional systematic reviews within the format of CIS, to combine the entire body of literature and generate theoretical categories. RESULTS: Three synthetic constructs (overarching themes) were produced from the analysis; ‘reassessing prevailing narratives on autism’, ‘navigation differences’ and the ‘absence of meaningful support provision’. Together these constructs generated a theoretical framework (‘synthesising argument’) defined as ‘reframing support for success’ for autistic and neurodiverse medical students, which collectively explained the findings of the review. ‘Reframing support for success’ provided an explanation for the inconsistencies in understanding the lived experiences of autistic medical students and the required adjustments and support provision. It illustrated the distinct challenges experienced by autistic students in navigating medical school as well the necessity to acknowledge the unique strengths autistic medical students bring. CONCLUSION: The review calls for enhanced awareness and training within medical schools to foster an inclusive environment that accommodates neurodiversity more broadly. It advocates for legislative compliance and change in offering reasonable adjustments and stresses the potential benefits of viewing autistic traits as strengths in medical practice.
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3. Campanale A, Siniscalco D, Di Marzo V. The endocannabinoidome-gut microbiome-brain axis as a novel therapeutic target for autism spectrum disorder. J Biomed Sci;2025 (Jul 2);32(1):60.
INTRODUCTION: Autism spectrum disorder (ASD) is characterized by disruption of the gut-brain axis, which leads to behavioral, psychiatric, metabolic and gastrointestinal symptoms. Effective ASD treatments are limited. Research highlights the roles of the endocannabinoidome (eCBome) and gut microbiome (GM), both crucial for brain and gut function. This review summarizes research on therapeutic targets within the eCBome-GM-brain axis for ASD and related comorbidities. DISCUSSION: Evidence suggests that reduced levels of eCBome mediators, like oleoylethanolamide and anandamide, and altered cannabinoid type 1 and type 2 (CB1 and CB2) receptors activity may contribute to ASD symptoms, making them promising targets. Modulating the eCBome-GM-brain axis with inhibitors of fatty acid amide hydrolase (FAAH), transient receptor potential vanilloid 1, and monoacylglycerol lipase (MAGL) may improve repetitive, stereotypical, and sensory behaviors, and alleviate sociability impairments, depression and anxiety. However, inhibition of FAAH and MAGL may also induce ADHD-like behaviors, which can be reversed by CB1 inverse agonists. Targeting metabotropic glutamate receptor 5 to increase levels of the eCBome mediator 2-arachidonoylglycerol (2-AG) may benefit ASD-related behaviors. eCBome mediators such as 2-AG, 1/2-palmitoylglycerol and palmitoylethanolamide may also help manage ASD- and GI-related symptoms, and systemic inflammation. Other potential therapeutic targets that deserve further investigation are eCBome-related receptors G-protein-coupled receptor 55 and peroxisome proliferator-activated receptors-alpha and -gamma, and the cyclooxygenase-2/prostaglandin E2 pathway, which may address hyperactivity and repetitive behaviors. Additionally, mucin-degrading genera like Akkermansia and Ruminococcus may improve ASD-related GI symptoms such as hypersensitivity and inflammation. Selective antibiotics against specific Clostridium strains may improve irritability and aggression. In ASD with ADHD and OCD, treatments may involve modulating the CB1 and CB2 receptor, and bacterial families like Ruminococcaceae and Lachnospiraceae. Lastly, modulating the abundance of anti-inflammatory genera like Prevotella and Anaeroplasma, and taxa associated with gut health such as Roseburia may also offer therapeutic value. CONCLUSION: The eCBome-GM-brain axis is a promising target for ASD treatment, meriting further clinical and preclinical research.
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4. Cancino-Barros I, Villacura-Herrera C, Castillo RD. A meta-analytic review of quantification methods for camouflaging behaviors in autistic and neurotypical individuals. Sci Rep;2025 (Jul 2);15(1):22885.
Camouflaging, a phenomenon observed in autistic individuals, refers to the conscious or unconscious strategies that individuals employ to mask, assimilate, or compensate for their autistic characteristics in social settings, in order to blend in or avoid stigmatization. These strategies may include suppression of behaviors considered atypical, imitation of neurotypical behaviors, and use of social scripts to navigate social interactions. While these behaviors have an adaptive goal, they have been linked with mental health issues. Our study examines the two assessment: Methods the Camouflaging Autistic Traits Questionnaire and the discrepancy method. Also examining differences based on sex and diagnosis. We conducted 17 independent meta-analyses, revealing significant differences between autistic individuals, with females displaying consistently higher scores. Autistic individuals showed higher scores when compared to their neurotypical counterparts. Meta-regression analysis suggests age as a relevant moderating factor, impacting comparisons between neurotypical groups. We discuss the differences in the assessment of camouflaging behaviors and the current strengths and limitations of both methods.
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5. Chan RCH, Hung FN. Correction: Sexual, Romantic, and Community Experiences of Individuals at the Intersection of Autism and Asexuality. Arch Sex Behav;2025 (Jul 2)
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6. Chojnicka I, Wawer A. Predicting autism from written narratives using deep neural networks. Sci Rep;2025 (Jul 1);15(1):20661.
Despite the heterogeneity of language and communication abilities within the autistic population, challenges associated with the pragmatic (social) use of speech remain consistently observable across the entire spectrum of autism. Therefore, the study of narrative competence is particularly relevant, and there has been a considerable rise in research on narrative skills in autism. Most studies have focused on spoken narratives, with some describing the potential use of automated computational methods. In this study, we analyzed written narratives collected in a standardized manner during a national exam. We gathered 363 essays from students in the final eighth grade of primary school: 193 from autistic students (ASD Group) and 168 non-autistic peers (non-ASD Group). We tested several deep neural models to predict whether an essay was written by an autistic student or a student from the non-ASD Group. Several models achieved promising results, exceeding values of 0.85 for sensitivity, specificity, and accuracy coefficients. In addition to studying narrative competence, the data from national exams and their utility in distinguishing autistic individuals may potentially pave the way for large-scale and cost-effective epidemiological studies on autism in the future.
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7. Dahake U, Dongre A, Girish M. Experiential learning in autism intervention module training. Med Educ;2025 (Jul 1)
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8. Dufour I, Chiu Y, Brodeur S, Courteau M, Courteau J, Dubé É, Lesage A, Fombonne É, Couture M. Pathways to autism diagnosis in adulthood. J Neurodev Disord;2025 (Jul 1);17(1):35.
BACKGROUND: This study explored Trajectories of Diagnoses (TDs) preceding a first diagnosis of autism in adulthood. METHODS: This retrospective cohort study used health administrative data from Quebec, Canada, and included all adults with a first recorded diagnosis of autism between 2012 and 2017. A TDs was defined as a succession of medical records of psychiatric and/or neurodevelopmental conditions over time. These TDs were retrospectively analyzed from 2002 to 2017, using a state sequence analysis of diagnoses, in order: Autism, Intellectual or developmental disabilities (IDDs), Schizophrenia spectrum disorder (SSD), Bipolar Disorder (BD), Depressive Disorder (DD), Anxiety Disorder (AD), Attention-deficit/hyperactivity disorder (ADHD), and Other psychiatric and/or neurodevelopmental conditions. RESULTS: The cohort included 2799 adults with a first recorded diagnosis of autism between 2012 and 2017. Several psychiatric and/or neurodevelopmental conditions were recorded since 2002, including AD (77.5%), DD (58.0%), SSD (49.4%), BD (48.3%), and IDDs (33.2%). Results revealed 5 distinct types of TDs. Types 1 (63.8%), 2 (17.6%) and 3 (6%) represented individuals in younger age groups with similar characteristics but with very different sequences of diagnoses, characterized by mixed diagnoses in type 1, SSD and AD in Type 2, and IDDs, DD, AD, and ADHD in type 3. Types 4 and 5 (9.0% and 3.6%), representing middle-aged/older groups, displayed distinctive TDs associated with high healthcare use, almost entirely associated with SSD (Type 4) and BD (Type 5). CONCLUSION: This study proposes a complementary examination of the multiple pathways to diagnosis experienced by adults, highlighting the need to address differential diagnosis and co-occurring psychiatric and neurodevelopmental conditions.
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9. Ebadi A, Allouch S, Mheich A, Tabbal J, Kabbara A, Robert G, Lefebvre A, Iftimovici A, Rodríguez-Herreros B, Chabane N, Hassan M. Beyond homogeneity: charting the landscape of heterogeneity in neurodevelopmental and psychiatric electroencephalography. Transl Psychiatry;2025 (Jul 2);15(1):223.
Electroencephalography (EEG) has been thoroughly studied for decades in neurodevelopmental and psychiatric research. Yet its integration into clinical practice as a diagnostic/prognostic tool remains unachieved. We hypothesize that a key reason is the underlying patient’s heterogeneity, overlooked in EEG research relying on a case-control approach. We combine high-density EEG with normative modeling to quantify this heterogeneity using two well-established and extensively investigated EEG characteristics -spectral power and functional connectivity- across a cohort of 1674 patients with attention-deficit/hyperactivity disorder, autism spectrum disorder, learning disorder, or anxiety, and 560 matched controls. Normative models showed that deviations from population norms among patients were highly heterogeneous and frequency-dependent. Deviation spatial overlap across patients did not exceed 40% and 24% for spectral and connectivity, respectively. Considering individual deviations in patients has significantly enhanced comparative analysis, and the identification of patient-specific markers has demonstrated a correlation with clinical assessments, representing a crucial step towards attaining precision psychiatry through EEG.
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10. Fernandes K, Righetto Greco AL, de Oliveira NRG, Medeiros M, Spittle A, Martins Roberto Formiga CK. Family Perceptions of Barriers and Facilitators of a Telehealth Program to Support Infants at Risk for Developmental Delays. J Mother Child;2025 (Feb 1);29(1):47-54.
BACKGROUND: Telehealth was an alternative in many countries during the COVID-19 pandemic for infants at risk of developmental delays. However, some barriers still challenge the adoption of telehealth as a care option, particularly once face-to-face interventions recommenced. This study aimed to identify the barriers and facilitators of a telehealth program to support infants at risk for developmental delays. MATERIALS AND METHODS: A prospective longitudinal study was conducted with 30 infants born at risk of developmental delay (preterm or term, with mean age of 3.1 months). Infants were enrolled between 2-12 months of corrected age. The program consisted of weekly telehealth sessions with a physical therapist focusing on supporting children’s cognitive, motor, speech, and language development. After 6 months, the caregivers answered a questionnaire on perceived barriers and facilitators of the telehealth program. RESULTS: A mean of 9.5 (range 2-12) sessions were carried out. Most caregivers (80%) felt comfortable and satisfied with the program, found the application for video calls easy to use, got help with their questions, and perceived improvements in the development of their infants. The main barrier was most caregivers rated the concern regarding their child as low (53.3%). CONCLUSION: Caregivers considered the telehealth program satisfactory and viable for complementary care and monitoring of infants’ development.
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11. Golebiowska J, Holuj M, Alenina N, Bader M, Popik P, Nikiforuk A. Tryptophan hydroxylase 2 deficiency alters autism-related behavioural phenotypes in rats. Sci Rep;2025 (Jul 1);15(1):20522.
Serotonin is a crucial neurotransmitter implicated in various physiological processes. Dysregulation of the serotonergic system, particularly in early life, may be associated with neuropsychiatric disorders, including autism spectrum disorder. This study utilises a rat model lacking the central serotonin-synthesising enzyme tryptophan hydroxylase 2 (TPH2) to investigate the effects of brain serotonin depletion on core autism-related behaviours. The animals’ social behaviour was assessed using social interaction and resident-intruder tests, along with ultrasonic vocalisation analysis to evaluate communication deficits. Repetitive behaviours were examined through the marble burying test and the attentional set-shifting task to measure cognitive flexibility. Our findings indicate that TPH2-deficient (TPH2-KO) rats displayed altered patterns of social behaviour and vocalisation. Notably, the study highlights sex differences in the behavioural responses of TPH2-KO rats, with males showing increased aggression and copulation-like behaviour. Additionally, male TPH2-KO rats demonstrated cognitive inflexibility, while females displayed significant compulsivity in marble-burying tests. This research highlights the serotonergic system’s role in socio-communicative and repetitive behaviours, establishing the TPH2-KO rat model as a valuable tool for exploring the neurobiological underpinnings of autism and related disorders. Further investigations into the differential effects of serotonin depletion across sexes may enhance our understanding of the mechanisms underlying neuropsychiatric conditions.
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12. He J, Gong Y, Yin M, Zhang L, Wu X. Optimal dosage of group-based organized physical activity for enhancing social abilities in autistic children: insights from a multilevel meta-analysis. Int J Behav Nutr Phys Act;2025 (Jul 1);22(1):87.
BACKGROUND: In response to current research trends emphasizing training programs to develop daily living skills in autistic children, this study employs a meta-analysis to explore the impact of group-based organized physical activity (GBOPA) on the social abilities of autistic children from multiple perspectives and further investigates its dose‒response relationship to define the « optimal » dose. METHODS: We searched the PubMed, Web of Science, Embase, and Cochrane Library databases to identify relevant studies and screen their references. The effect size was calculated via Hedges’ g, and three-level random effects models were constructed via the metafor package in R. Moderation and regression analyses were conducted to explore significant influencing factors. RESULTS: This study included 24 articles from ten countries and included 1,042 participants (aged 4.56-11.11 years). The meta-analysis results clearly show that GBOPA can significantly improve social abilities (g = 0.48, Q = 114.84), including social functioning (g = 0.50, Q = 62.97) and communication (g = 0.37, Q = 48.07), in autistic children. Moderation analysis indicated that different age groups and training frequencies significantly affected social ability (between-group difference: p < 0.05). Specifically, interventions for early childhood children (g = 0.65) and a frequency of five sessions per week (g = 0.69) significantly enhanced the training effects on social ability. The multivariate meta-regression analysis results suggest that the optimal intervention for improving social ability in autistic children consists of 40 training sessions, each lasting 50 min. CONCLUSIONS: GBOPA can improve the social abilities of autistic children, including social functioning and communication. On the basis of existing evidence, GBOPA should be prioritized for early childhood autistic children (5 sessions per week, 50 min per session), followed by a transition to a maintenance intervention strategy (1-2 sessions per week) after completing the 8-week foundational cycle (a total of 2,000 min of exercise).
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13. Hong M, Lv S. The current situation and influencing factors of posttraumatic growth in parents of children with autism: a qualitative study. BMC Psychol;2025 (Jul 1);13(1):646.
BACKGROUND: There is relatively little research in China on the current situation and influencing factors of PTG of parents of children with autism, and the research conclusions are inconsistent. Quantitative research is difficult to deeply depict the dynamic process of PTG of parents of children with autism, and cannot deeply explore the main factors affecting PTG. However, qualitative research has a unique advantage in this regard. METHODS: 15 parents of autistic children from China participated in the present study. Data collected by one to one in-depth interview which was analyzed by thematic analysis. RESULTS: Four themes yielded. They are: significant increase in personal strength; significant improvement in interpersonal relationships; continuously deepening life perception; worry and confusion about the child’s future. The main influencing factors of PTG of parents of autistic children include the support of significant others and the partners, family income, cultural context, social reality and parents’ roles.Parents who experience traumatic events value money more than before, which is different from previous research findings. CONCLUSIONS: The current status and influencing factors of PTG of Chinese parents of autistic children are different from existing research results and have the characteristics of Chinese cultural context. However, more research results are needed to test it.
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14. Houck AP, Richards JK, Day TC, Goodwill JJ, Hauschild KM, Malik I, Lerner MD. Automatic and affective processing of faces as mechanisms of passing as non-autistic in adolescence. Sci Rep;2025 (Jul 2);15(1):22850.
Passing as non-autistic (PAN) is the phenomenon by which an autistic person does not present as autistic in certain contexts. Despite a proliferation of research on the construct on PAN, no study has yet examined the neurocognitive processes implicated in PAN. This study examined two well-characterized event-related potentials (ERPs) often associated with autism – the N170 and the Late Positive Potential (LPP) – in response to faces as putative mechanisms of PAN. Participants were 44 community-recruited youth (M(age) = 13.36, N(male) = 30) who completed a facial emotion recognition task during EEG recording. PAN was operationalized using best practices (moderation) for calculating the discrepancy between community informant (parent and teacher) and clinician-reported autism symptoms. Results reveal a substantial proportion (approximately 44%) of the community-recruited adolescent sample met criteria for PAN. This status was associated with faster N170 latency to faces, and attenuated LPP amplitude to facial emotions, particularly subtle facial emotions. Findings suggest autistic adolescents who PAN may have more efficient automatic process of, and reduced reactivity to, social stimuli. This study provides the first direct test of a potential neurocognitive mechanism of PAN, supporting emotion regulation-mediated PAN models.
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15. Jabbar A, Jianjun H, Jabbar MK, Ur Rehman K, Bilal A. Spectral feature modeling with graph signal processing for brain connectivity in autism spectrum disorder. Sci Rep;2025 (Jul 2);15(1):22933.
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition associated with disrupted brain connectivity. Traditional graph-theoretical approaches have been widely employed to study ASD biomarkers; however, these methods are often limited to static topological measures and lack the capacity to capture spectral characteristics of brain activity, especially in multimodal data settings. This limits their ability to model dynamic neural interactions and reduces their diagnostic precision. To overcome these limitations, we propose a Graph Signal Processing (GSP)-based framework that integrates spectral-domain features with topological descriptors to model brain connectivity more comprehensively. Using publicly available fMRI and EEG datasets, we construct subject-specific connectivity graphs where nodes represent brain regions and edges encode functional interactions. We extract advanced GSP features such as Graph Fourier Transform coefficients, spectral entropy, and clustering coefficients, and combine them using Principal Component Analysis (PCA). These are classified using a Support Vector Machine (SVM) with a radial basis function (RBF) kernel. The proposed model achieves 98.8% classification accuracy, significantly outperforming prior multimodal GSP studies. Feature ablation analysis reveals that spectral entropy contributes most to this improvement, with its removal resulting in a nearly 30% performance drop. Additionally, a 25% sparsity threshold in graph construction was found to maximize both robustness and computational efficiency. These findings demonstrate that incorporating frequency-domain information through GSP enables a more discriminative and biologically meaningful representation of ASD-related neural patterns, offering a promising direction for accurate diagnosis and biomarker discovery.
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16. Jain A, Dhir N, Prabha PK, Raja A, Sharma AR, Kaundal T, Charan S, Singh H, Singla R, Malik D, Bhatia A, Banerjee D, Saikia B, Zohmangaihi D, Goyal MK, Medhi B, Prakash A. Restoring Brain Function in Autism: GSK3β Inhibition by 6-Bromoindirubin-3′-oxime Reverses Valproic Acid-induced Neuropathology. ACS Chem Neurosci;2025 (Jul 2);16(13):2395-2419.
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by social deficits, restricted interests, and repetitive behaviors. Although aripiprazole and risperidone are FDA-approved for ASD, they primarily target comorbid symptoms and are associated with significant side effects. This study aimed to investigate the effects of 6-bromoindirubin-3′-oxime (6BIO), a glycogen synthase kinase 3β (GSK3β) inhibitor, in a VPA model of ASD. Pregnant Wistar rat dams received a single intraperitoneal (ip) injection of VPA (600 mg/kg) or an equal volume of saline on GD 12.5. Offspring prenatally exposed to VPA showed impairments in early age observations, such as nervous reflex, motor coordination, sensory function, and developmental milestones. On postnatal day (PND), 23 male and female offspring were separated and randomly assigned to receive either risperidone (2.5 mg/kg, po) or 6BIO (15 or 30 μg/kg, ip) daily until PND 82. Systemic postnatal administration of 6BIO dose-dependently ameliorated anxiety-like behavior, exploratory, social deficit, repetitive behavior, spatial cognition, recognition memory, motor coordination, gastrointestinal motility, brain edema, and blood-brain barrier functions. Furthermore, chronic 6BIO postnatal treatment significantly attenuated VPA-induced neuronal damage in the prefrontal cortex, hippocampus, and cerebellum. 6BIO also significantly suppressed the upregulated cytosolic GSK3β phosphorylation, as determined by immunohistochemistry and Western blotting. Additionally, 6BIO modulated mRNA expression levels of Wnt, CHD8, SHANK3, GAD65, and 67, and transcriptional factors such as β-catenin and NLGN3 were altered by prenatal VPA exposure. In conclusion, these findings suggest that 6BIO may exert neuroprotective effects via GSK3β inhibition, indicating its potential as a candidate compound for therapeutic intervention in ASD.
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17. Jin Q, He Z, Xu D, Lin R, Zhang T, Lv B, Zhao Y. Autism spectrum disorders and childhood caries: a comprehensive Mendelian randomization study. BMC Pediatr;2025 (Jul 2);25(1):484.
BACKGROUND: This study aimed to investigate the causal relationships between autism spectrum disorder (ASD) or pervasive developmental disorder (PDD) (excluding ASD and Asperger’s syndrome [AS]) and childhood caries (primary teeth and permanent teeth). METHODS: We conducted two-sample Mendelian randomization (MR) analysis by utilizing summary-level data of ASD and PDD (excluding ASD and AS) as exposures, and childhood caries (primary teeth and permanent teeth) as outcomes. RESULTS: The results showed that PDD (excluding ASD and AS) to be causally associated with caries in permanent teeth according to the inverse-variance weighted (IVW) (odds ratio [OR]: 1.151, 95%CI: 1.043-1.270, P = 0.005) and weighted median (OR: 1.159, 95%CI: 1.029-1.306, P = 0.015). However, according to the IVW (OR: 0.923, 95%CI: 0.873-1.003, P = 0.051), ASD might be causally associated with caries in permanent teeth. The results also showed no causal association between ASD or PDD (excluding ASD and AS) and caries in primary teeth. CONCLUSIONS: Our study showed PDD (excluding ASD and AS) to have pathogenic effects on childhood caries of permanent teeth among a population of European ancestry. However, ASD was shown to have protective effects on childhood caries of permanent teeth.
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18. Le Bras A. Understanding the roots of social avoidance in autism. Lab Anim (NY);2025 (Jul);54(7):175.
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19. Li W, Liu Y, Tao R, Chen L, Liu Y, Mo D, Liu H, Zhang X. Association of insomnia with suicide attempts in Chinese chronic schizophrenia patients with and without autistic symptoms. BMC Psychiatry;2025 (Jul 1);25(1):604.
BACKGROUND: Numerous studies have shown that people with schizophrenia (SCZ) have a higher risk of suicide, and insomnia symptoms are common in SCZ patients. Autism symptoms (AS) are common in SCZ patients, and they are strongly linked to suicide. This study explored the connection between insomnia, autistic symptoms, and suicide attempts in Chinese patients with SCZ, it has not yet been investigated. METHODS: 955 Chinese chronic SCZ patients provided demographic and clinical information for data collection. Insomnia Symptom Severity Index (ISI) was used to assess the severity of insomnia symptoms, and Beck Scale for Suicide Ideation (BSS) was used to assess the risk of suicide. PANSS Autism Severity Score (PAUSS) was used to assess autistic symptoms. RESULTS: The incidence of insomnia was higher in AS-SCZ patients than in non-AS-SCZ patients, but the incidence of suicide attempts was lower than that in non-AS-SCZ patients (all p < 0.05). In SCZ patients, insomnia severity scores were strongly associated with suicide attempts. Further correlational analysis showed that this association was only present in non-AS-SCZ patients (p < 0.05). CONCLUSIONS: Insomnia in patients with chronic SCZ may be influenced by autistic symptoms, potentially impacting the association between suicide attempts and insomnia. TRIAL REGISTRATION: The study was a cross-sectional study, so there was no clinical trial registration. CLINICAL TRIAL NUMBER: not applicable.
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20. Liu X, Yang Z, Lu Y, Tan S, Wang K, Wang C, Wang N, Feng Z, Wei H, Cheng M, Zhao X. Investigating cerebral blood flow dysregulation and serum zinc correlation in 2-4 year-old children with autism spectrum disorder. Eur J Med Res;2025 (Jul 1);30(1):534.
BACKGROUND: Autism spectrum disorder (ASD) is a severe neurodevelopmental condition. Its incidence is on the rise worldwide, and in severe cases, it can lead to disability. While emerging evidence implicates cerebrovascular dysfunction in the pathophysiology of neurodevelopmental impairments associated with ASD, systematic characterization of cerebral hemodynamic variations across clinically stratified severity subgroups, particularly among mild-moderate and severe ASD presentations and typically developing (TD) children, remains a critical unmet research need. METHODS: This cross-sectional neuroimaging study enrolled 121 children aged 2 to 4 years: 16 with severe autism (Childhood Autism Rating Scale (CARS) score > 36), 60 with mild-moderate autism (CARS score between 30 and 36), and 45 TD children. CBF measurements were obtained from nine regions of interest (ROI) in both hemispheres: temporal lobe, parietal lobe, occipital lobe, putamen, thalamus, caudate nucleus, globus pallidus, hippocampus, and amygdala. Intergroup comparisons of CBF values were performed among the three groups. Particular emphasis was placed on analyzing the correlation between thalamic CBF values and serum zinc levels in autistic children. RESULTS: Children with severe autism exhibited significantly lower CBF in the temporal lobe, putamen, thalamus, and hippocampus compared to TD children (p < 0.05). Within the autism cohort, severe cases demonstrated further CBF reductions in the putamen and thalamus compared to mild-moderate cases (p < 0.05). Similarly, children with mild-moderate autism showed reduced CBF in the temporal lobe, putamen, thalamus, and hippocampus compared to TD children (p < 0.05). Notably, a significant difference in CBF was observed between the left and right thalamus in both mild-moderate and severe autism groups, with lower blood flow in the left thalamus (p < 0.05). A positive correlation was found between thalamic CBF values and serum zinc levels in the autism group. CONCLUSIONS: Children with severe autism show significantly reduced CBF in critical brain regions. Thus, 3D-pCASL may enable the precise stratification of ASD severity in children and provide an imaging foundation for subsequent therapeutic evaluation.
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21. Ljungberg B, Westergren A. Perspectives: Digital media use in children with autism: balancing benefits and risks. A nursing perspective. J Res Nurs;2025 (Jun);30(4):406-410.
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22. Lunsky Y, Carter M, Hutton S, Wozniak J, Chen S, Weiss J. Virtual group-based mindfulness for autistic adults: A randomized controlled trial. Autism;2025 (Jul 1):13623613251340101.
There is evidence for mindfulness as a mental health intervention for autistic adults, but most of the research has focused on in-person interventions. This randomized controlled trial evaluated the impact of a 6-week manualized autistic-informed group-based virtual mindfulness intervention in comparison to a waitlist control. Sixty-three autistic adults from across Canada were randomly assigned to treatment or waitlist. Both groups completed surveys prior to randomization, at 7 and 15 weeks, and the waitlist group was followed for two additional time points after receiving mindfulness. We compared outcomes at the first three time points by group using linear mixed models with a secondary analysis including outcome measures from the waitlist group after intervention. Improvements in overall distress and stress, as well as self-compassion, mindfulness, and mental wellbeing were reported in the treatment condition, maintained at follow-up. No changes were reported in the waitlist condition. Neither group reported changes in terms of autistic commnity connectedness, or interoceptive sensitivity following intervention or follow-up. This study supports the virtual delivery of autistic-informed mindfulness-based programs. Further work could explore the unique benefits of synchronous group-based virtual mindfulness in contrast to more asynchronous ways to build mindfulness skills and in-person instruction.Lay abstractSome studies have shown that learning mindfulness helps autistic people, but most of these studies were done in person. We wanted to know if learning mindfulness online in a group would help improve autistic adults’ mental health. We randomly put people into two groups (a waitlist and people who got to be in the mindfulness group right away). This means people did not get to pick which group they went into. A total of 63 autistic adults were in the project. After 6 weeks of mindfulness, the people who learned mindfulness said they felt less stressed, and they were more mindful, and had better wellbeing, and more compassion or kindness for themselves, and these changes were still there 8 weeks later. The people who did not get to do mindfulness right away did not say they felt any different. Neither group said they felt more connected to other autistic people and neither group said they were more aware of the sensations they could feel inside their bodies. This tells us that we can teach groups of autistic people to do mindfulness online together, and it can help at least some autistic adults with their mental health. We need to do more research to find out how much mindfulness training people need, if it is better to learn in person or online, and if it is better to learn as part of a group or alone.
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23. McCrossin J, Lach L, Biette S, Cappe É. Caregiver Peer Support for Families of Autistic Children in France. Child Care Health Dev;2025 (Jul);51(4):e70123.
BACKGROUND: Caring for autistic children presents significant emotional and practical challenges, impacting family well-being and creating a need for social supports. In France, these challenges are compounded by historical reliance on psychoanalytic approaches to autism care. This study aims to identify caregiver peer support programmes for families of autistic children in France and explore their contributions to autism care. METHODS: An environmental scan was conducted to identify relevant caregiver peer support programmes. This approach involved an internet search using keywords related to autism, caregiver peer support and France, supplemented by informal consultations in the autism support community to contextualize findings and refine the identification of programmes. Inclusion criteria focused on services offering ongoing support to caregivers by peers. Data extraction was performed on publicly available sources and through direct correspondence with service administrators. RESULTS: Sixteen organizations were identified, offering various forms of caregiver peer support, including group meetings and individual follow-ups. Most services were in-person, with some online options. Peer support roles varied between paid and volunteer positions. Few organizations reported offering training to peers. Key support formats included informal gatherings like discussion groups focusing on emotional support, sharing experiences and advocacy. However, inconsistencies in the availability of detailed information about services and peer training highlight limited clarity in programme descriptions, which may pose challenges for families seeking support. CONCLUSIONS: Caregiver peer support is underdeveloped in France. Insufficient detail regarding service delivery models, support structures and training hinders broader accessibility and adoption. Aligning terminology and promoting the value of caregiver peer support could enhance its role in autism care. Future research should evaluate the impact of these programmes on caregiver and family outcomes and explore stakeholder experiences to refine support mechanisms. SUMMARY: Caregiver peer support for autism is underdeveloped in France. Despite its recognized value in improving family well-being, these services remain limited and inconsistently implemented across the country. Many programmes lack peer support training for caregivers, highlighting opportunities to improve the quality and sustainability of the support provided to families of autistic children. There is significant variation in how caregiver peer support services are offered, ranging from informal gatherings to individualized support, with a recent shift towards professionalizing the role of peer supporters. Standardizing terminology, promoting caregiver expertise and researching programme outcomes could enhance the impact of caregiver peer support on family well-being and autism care in France. The unique challenges and developments in France’s caregiver peer support system offer valuable insights into the broader processes and evolution of peer support on a global scale.
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24. Nakamura T, Nakagawa S, Horikawa S, Nagahama J, Yasudome Y, Abematsu T, Kodama Y, Nishikawa T, Okamoto Y. Safety and efficacy of sedation for pediatric patients with cancer and developmental disabilities. Pediatr Int;2025 (Jan-Dec);67(1):e70142.
BACKGROUND: Children with developmental disabilities (DDs) tend to have more fear of loud noises and needles than those without. However, how DDs affect sedation during painful procedures in pediatric patients with cancer is unclear. This study aimed to evaluate the sedative doses and adverse events (AEs) associated with sedation using a combination of midazolam and ketamine for bone marrow aspiration and intrathecal therapy. METHODS: The AEs evaluated included hypoxia, vomiting, tremors, excitement, disturbances, apnea, and bradycardia. The study included seven participants with autism spectrum disorder, attention deficit hyperactivity disorder, and specific learning disorders, alongside 30 control participants without DD. The types of cancers included acute lymphoblastic leukemia, acute myeloid leukemia, and diffuse large B-cell lymphoma. A total of 107 procedures were performed in the DD group and 378 in the control group. RESULTS: There were no significant differences in the sedative doses and AEs between patients with DD and controls, except for increased tremors after sedation in the DD group. CONCLUSIONS: Sedation using a combination of midazolam and ketamine can be safely performed for painful procedures in pediatric patients with cancer and DD without excessive concern.
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25. Novak R, Lin T, Kaushal S, Sperry M, Vigneault F, Gardner E, Loomba S, Shcherbina K, Keshari V, Dinis A, Vasan A, Chandrasekhar V, Takeda T, Nihalani R, Umur S, Turner JR, Levin M, Ingber DE. AI-enabled drug prediction and gene network analysis reveal therapeutic use of vorinostat for Rett Syndrome in preclinical models. Commun Med (Lond);2025 (Jul 1);5(1):249.
BACKGROUND: Many neurodevelopmental genetic disorders, such as Rett syndrome, are caused by a single gene mutation but trigger changes in expression of numerous genes. This impairs functions of multiple organs beyond the central nervous system (CNS), making it difficult to develop broadly effective treatments based on a single drug target. This is further complicated by the lack of sufficiently broad and biologically relevant drug screens, and the inherent complexity in identifying clinically relevant targets responsible for diverse phenotypes that involve multiple organs. METHODS: Here, we use computational drug prediction that combines artificial intelligence, human gene regulatory network analysis, and in vivo screening in a CRISPR-edited, Xenopus laevis tadpole model of Rett syndrome to carry out target-agnostic drug discovery. Four-week-old MeCP2-null male mice expressing the Rett phenotype are used to validate the therapeutic efficacy. RESULTS: This approach identifies the FDA-approved drug, vorinostat, which broadly improves both CNS and non-CNS (e.g., gastrointestinal, respiratory, inflammatory) abnormalities in X. laevis and MeCP2-null mice. To our knowledge, this is the first Rett syndrome treatment to demonstrate pre-clinical efficacy across multiple organ systems when dosed after the onset of symptoms. Gene network analysis also reveals a putative therapeutic mechanism for the cross-organ normalizing effects of vorinostat based on its impact on acetylation metabolism and post-translational modifications of microtubules. CONCLUSIONS: Although vorinostat is an inhibitor of histone deacetylases (HDAC), it unexpectedly reverses the Rett phenotype by restoring protein acetylation across hypo- and hyperacetylated tissues, suggesting its activity is based on a previously unknown therapeutic mechanism. Traditional drug discovery platforms focus on singular targets and take several years to validate treatment efficacy before entering clinical trials. Here, we describe a discovery platform that leverages artificial intelligence (AI) and gene expression profiles in combination with a genetically engineered tadpole and mouse models of a form of autism, known as Rett syndrome, to identify an existing FDA approved anticancer drug (vorinostat) that may be repurposed as a treatment for this condition. We show that vorinostat improves both the neurological and non-neurological symptoms of Rett syndrome in both models. Analysis of vorinostat’s therapeutic action reveals that internal structural elements in cells, known as microtubules, represent a suitable target for treatment of this disease. This AI-based computational discovery platform demonstrates the possibility of rapidly identifying alternative uses for existing FDA approved drugs for treatments of patients with complex genetic disorders. eng in Unravel Biosciences, Inc.; R.N., F.V., and D.E.I. are members of its board of directors; M.L. and D.E.I. are members of its scientific advisory board; and R.N., F.V., E.G., S.U. and R.Ni. are current or past employees of the company.
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26. Potts B, Skelton E, Pavlopoulou G, Karaminis T, Malamateniou C. The A3ReAcH (Autistic, ADHD and AuDHD research accessibility in healthcare) framework: Principles for inclusive healthcare research with autistic, ADHD and AuDHD individuals in radiography and medical radiation technology. J Med Imaging Radiat Sci;2025 (Jun 30);56(5):102009.
BACKGROUND: Autistic, ADHD and AuDHD individuals are often excluded from healthcare/radiography research due to inaccessible methodologies and systemic biases, perpetuating well-documented health inequalities. While researchers can recognise this, they may be unequipped to address it effectively. This narrative review introduces the A3ReAcH (Autistic, ADHD and AuDHD Research Accessibility in Healthcare) framework, which provides practical guidance for designing and conducting accessible, inclusive and participatory research. METHOD: Two searches of peer-reviewed studies (2019-2024) were conducted using Emcare, MEDLINE, Social Policy and Practice, CINAHL, the Psychology and Behavioral Sciences Collection, Google Scholar, and PubMed. The key themes were identified, and a framework was synthesised that aligns with different stages of the research lifecycle (planning to dissemination). RESULTS: The searches retrieved 86 articles: 54 methodological and 32 original research. Key themes are presented as a 12-item framework. The A3ReAcH framework outlines practical strategies such as diversifying research teams, ensuring equitable power-sharing, prioritising participatory methods, and adapting research designs to neurodivergent needs. It also emphasises the importance of accessible recruitment, fair compensation, and inclusive dissemination. Additionally, it highlights the role of intersectionality in shaping neurodivergent experiences and provides recommendations to reduce systemic barriers in research. CONCLUSION: All healthcare/radiography research should include and respect neurodivergent experiences. The A3ReAcH framework empowers researchers to produce more equitable and actionable research by including neurodivergent voices and dismantling barriers to participation. By integrating these principles, healthcare/radiography researchers can improve the participant experience, enhance data quality, and drive systemic change in healthcare/radiography research, moving towards findings that genuinely represent the diversity of the population.
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27. Rao MG, Wen T, D’Alton M, Logue TC, Friedman A, Zork N. Adverse outcomes during delivery hospitalizations among patients with an intellectual or developmental disability diagnosis. Am J Obstet Gynecol;2025 (Jul 2)
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28. Razavi A, Varela-Castillo P, Yang XJ. Bromodomain and PHD Finger-Containing Protein 1: From Functions to a Developmental Disorder, Cancer, and Therapeutics. Results Probl Cell Differ;2025;75:411-434.
Bromodomain and PHD finger-containing protein 1 (BRPF1) is an essential epigenetic regulator and plays a key role in post-translational modification of histones. It is a chromatin reader that recognizes acetylated histones and interacts with the paralogous lysine acetyltransferases KAT6A and KAT6B to promote histone acetylation and related acylations, such as propionylation, at lysine 23 of histone H3, thereby influencing gene expression and regulating developmental programs. BRPF1 contributes to a variety of cellular processes such as cell cycle progression, cell proliferation, cell differentiation, and responses to cellular stresses, including DNA damage. Moreover, BRPF1 is implicated in hematopoiesis, embryonic development, skeletal development, neurodevelopment, neurogenesis, learning, and memory. BRPF1 gene knockout in mice leads to severe bone marrow failure, anemia, and eventual death in a few weeks after birth. This review provides a brief overview of BRPF1 and its contribution to the molecular structure and biological functions of KAT6A and KAT6B complexes. We will explore the emerging evidence linking BRPF1 dysfunction to human diseases, particularly cancer and abnormal neurodevelopment, to highlight promising therapeutic opportunities for treating associated pathology.
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29. Reed ZE, Bastiani O, Eastwood A, Penton-Voak IS, Jarrold C, Munafò MR, Attwood AS. Assessing the effectiveness of multi-session online emotion recognition training in autistic adults. PLoS One;2025;20(7):e0327424.
Difficulties with emotion recognition can occur in neurodevelopmental conditions, including in autistic individuals. Providing interventions to support this would therefore be beneficial, particularly in terms of downstream effects on wellbeing, social relationships and education. In this online experimental study, we examined the effect of a recently developed facial emotion recognition training task versus a sham/control task in an adult population who self-identified as autistic over four sessions in a 2-week period, with a fifth follow-up session (N = 184). Our main analyses showed that facial emotion recognition accuracy was greater in Session 4 in the active group, with an estimated improvement of 14% (equivalent to approximately 7 additional correct responses), compared to 2% (equivalent to approximately 1 additional correct responses) in the sham group (p = 4×10-09). Additional analyses suggested training effects were generalisable to facial stimuli that participants had not been trained on and were still present, although attenuated, two weeks later. We also observed some self-reported improvements in social interactions post-training. Overall, this study demonstrated improved emotion recognition with this training task in an adult sample who self-identified as autistic. Future work is needed to investigate the effect of this task on emotion recognition accuracy in those with a formal diagnosis of autism, and in autistic children where support could be most beneficial.
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30. Riera R, de Toledo IP, Farinasso CM, Pacheco RL, Silva RB, Colpani V, Martimbianco ALC, Cruz CM, Parreira P, Latorraca COC. Therapeutic Use of Cannabis Derivatives and Their Analogs for Autism Spectrum Disorder: A Systematic Review. J Clin Pharmacol;2025 (Jul 2)
Autism spectrum disorders are characterized by some difficulties with social interactions and communication, atypical patterns of behavior, and unusual reactions to emotions. Studies have found promising results regarding the effects of cannabis on autism. We conducted a systematic review of randomized clinical trials on the effects of cannabis derivatives and their analogs for autism. This review was developed according to the Cochrane Handbook for Systematic Reviews of Interventions and reported according to PRISMA 2020. The protocol was prospectively published in the PROSPERO database (CRD42023468300). We included randomized controlled trials with autism-diagnosed participants treated with any cannabis derivate or its analogs for therapeutic purposes. Two reviewers assessed titles and abstracts independently and potentially eligible full texts were assessed to confirm eligibility. After that, they extracted data using a standardized worksheet. Searches retrieved 1264 references, only 11 RCTs were included, four with available results for children/adolescents with autism. Five different cannabis presentations were tested. One trial pointed that cannabis may improve global assessment symptoms, but for other outcomes results were uncertain. No included study assessed quality of life. The certainty of evidence ranged from very low to low certainty for the assessed outcomes. Cannabis whole plant extract may improve global assessment symptoms, but the different cannabis presentations, outcome assessments and very low certainty of evidence from the included studies make it difficult to draw conclusions about cannabis for people with autism. This scenario of uncertainties impacts directly clinical practice and decision making.
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31. Ripley KR. Strategies for supporting neurodivergent nursing students in practice placements. Nurs Stand;2025 (Jul 2);40(7):61-66.
Neurodivergent conditions include autism, attention deficit hyperactivity disorder (ADHD) and dyslexia. An increasing number of people with these conditions are entering higher education. Neurodivergent nursing students may experience increased challenges during their practice placements and require reasonable adjustments to be made. Despite the best intentions of staff, these students’ placement experiences and outcomes can be adversely affected, and without appropriate support they may become less likely to engage with some learning opportunities. Additionally, staff may not always have a clear understanding of these students’ needs or confidence in meeting them. This article provides an overview of some of the challenges that neurodivergent nursing students may experience during their placements, and outlines some potential strategies that staff supporting them can use.
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32. Secara MT, Khan Z, Rashidi A, Oliver LD, Yu JC, Foussias G, Dickie EW, Szatmari P, Desarkar P, Lai MC, Baracchini G, Malhotra AK, Buchanan RW, Voineskos AN, Ameis SH, Hawco C. Transdiagnostic Profiles of BOLD Signal Variability in Autism and Schizophrenia Spectrum Disorders: Associations with Cognition and Functioning. bioRxiv;2025 (Jul 2)
BACKGROUND: Autism spectrum disorder (autism) and schizophrenia spectrum disorders (schizophrenia) exhibit overlapping social and neurocognitive impairment and considerable neurobiological heterogeneity. Blood-oxygen-level-dependent (BOLD) signal variability captures the brain’s moment-to-moment fluctuations, offering a dynamic marker of neural flexibility that is sensitive to cognitive capacity. This study aimed to examine intra-regional BOLD signal variability during rest and task across schizophrenia, autism, and typically developing controls (TDC) to explore transdiagnostic patterns of brain signal variability and their relationship with cognitive and functional outcomes. METHODS: Intra-regional BOLD variability, measured by mean squared successive difference (MSSD), was obtained from resting-state and Empathic Accuracy task fMRI in 176 SSD, 89 autism, and 149 TDC participants. ANCOVAs, controlling for age, sex, and motion, assessed group differences in regional and network-level BOLD variability and dimensional associations with social cognition, neurocognition, social functioning, and symptom severity. RESULTS: Both autism and schizophrenia exhibited lower BOLD signal variability than TDC across rest and task, with reduced variability observed in somatomotor, visual, and auditory networks (pFDR < 0.01). Greater network variability was positively associated with better social cognitive, neurocognitive, and functional scores across the sample. Resting-state variability showed stronger group-based differences and cognitive associations than task-based variability. CONCLUSIONS: BOLD signal variability is positively associated with social cognition, neurocognition, and social functioning across groups, suggesting that variability impacts cognitive efficiency and behaviour. Reduced variability in autism and schizophrenia may indicate similar patterns of neural rigidity among these related conditions, positioning BOLD variability as a potential biomarker for neural flexibility and a valuable target for future transdiagnostic clinical interventions.
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33. Shema N, Zamstein O, Wainstock T, Pariente G, Sheiner E. Examining the relationship between maternal preeclampsia and autism spectrum disorder in childhood. Hypertens Pregnancy;2025 (Dec);44(1):2527137.
OBJECTIVE: Autism spectrum disorder (ASD) has multifactorial origins, some related to the prenatal period. Preeclampsia, a serious pregnancy complication, is also multifactorial. This study aimed to explore the potential association between preeclampsia and ASD in a diverse population. STUDY DESIGN: A retrospective cohort study including all deliveries of Clalit Health Services-insured women at Soroka University Medical Center from 2005 to 2017. The study compared ASD incidence in offspring of mothers with varying severities of preeclampsia. Kaplan-Meier survival curves assessed cumulative ASD incidence, and Cox proportional hazards models adjusted for confounding factors. RESULTS: Of 115,081 parturients, 2,856 (2.5%) had preeclampsia, 956 (0.8%) with severe features. Preeclampsia, especially severe, was linked to adverse outcomes (e.g. fetal growth restriction, earlier delivery, cesarean delivery; p < 0.001). Among 767 (0.7%) offspring diagnosed with ASD, prevalence was higher in the preeclampsia group compared to those without preeclampsia (1.1% mild, 0.9% severe, no preeclampsia 0.7%; p = 0.02). However, Kaplan-Meier analysis showed no significant difference in cumulative ASD morbidity (log-rank p = 0.928). Cox regression models, conducted both with and without adjustment for gestational age, showed no significant association between preeclampsia and ASD after adjustment for relevant confounders. CONCLUSION: To gain a deeper understanding of the obstetrical aspects related to the development of autism spectrum disorder, our findings indicate that preeclampsia does not play a contributory role.
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34. Shin J, Konnai S, Maniruzzaman M, Tomioka Y, Hwang YS, Megumi A, Yasumura A. A multimodal approach for ADHD with coexisting ASD detection for children. Sci Rep;2025 (Jul 1);15(1):21182.
Identifying attention-deficit/hyperactivity disorder (ADHD) with coexisting autism spectrum disorder (ASD) for children is a challenging issue due to their complexity and overlapping symptoms. This study investigated from handwriting and executive function viewpoints simultaneously and developed a novel multimodal approach for identifying ADHD with coexisting ASD by fusing pen tablet and fNIRs data. This study used pen tablet and fNIRs device to compare writing dynamics and brain activity between ADHD with coexisting ASD and typically developing (TD) children during handwriting patterns. Two handwriting tasks including Zigzag line (ZL) and periodic lines (PL) were adopted for data collection. Each task had two conditions: trace and predict. Various statistical features were derived from pen tablet and fNIRs data for each task. These features were then combined by fusing features derived from the trace and predict conditions to make two datasets (PL and ZL). The potentiality of these features was evaluated using Sequential Forward Floating Selection (SFFS)-based algorithm and support vector machine (SVM) was employed to evaluate the performance of ZL and PL tasks. Data were collected from 13 ADHD children with co-occurring ASD and 15 TD children to evaluate the proposed ZL and PL tasks. The experimental results demonstrated that the proposed SFFS-SVM model achieved a classification accuracy of 96.4% for PL task. This is an improvement of more than 2% classification accuracy compared to existing studies. This approach shows promising potential and assisting physicians and clinicians to provide an objective and accurate diagnosis of ADHD with coexisting ASD. This study proposes a novel approach that increase the detection rate and provides new insights for further research.
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35. Suzuki Y, Nakamura K, Shimizu T, Asami M, Hara H. Successful left atrial access through GORE CARDIOFORM ASD occluder using an integrated transseptal wire system after failed RF needle approach. J Arrhythm;2025 (Aug);41(4):e70123.
An integrated transseptal wire system enabled successful left atrial access through the elastic resistance posed by a large GORE CARDIOFORM ASD occluder after failed RF needle attempt, allowing large-bore cryoballoon sheath advancement via sequential sheath technique for atrial fibrillation ablation without procedural complications.
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36. Ueno H, Iyanaga Y, Kunida K, Hara Y, Miura H, Nakai Y, Tanuma M, Hayashida M, Yokoyama R, Ohkubo J, Seiriki K, Hayata-Takano A, Ao T, Yamaguchi S, Kitaoka S, Furuyashiki T, Ago Y, Nakazawa T, Takuma K, Yoshimoto J, Hashimoto H, Kasai A. Recovery of centralities in medial prefrontal and sensory-related cortices associated with social behavior improvements in an autism mouse model. Sci Rep;2025 (Jul 2);15(1):22895.
Anti-epileptics and diuretics, used for unapproved purposes, have been reported to ameliorate social deficits in individuals with autism spectrum disorder. However, the underlying neural mechanisms remain unclear. Here, we explored the effects of bumetanide, clonazepam, and phenytoin, all with clinically reported properties for improving social deficits, in a prenatal valproic acid exposure male mouse model. By combining comprehensive behavioral analysis with brain-wide mapping of Arc, an immediate early gene, we found a correlation between social behaviors and Arc-positive cell counts across brain areas. Network analysis identified the medial prefrontal and sensory-related cortices as critical nodes with high centrality, playing critical roles in connecting other brain regions. These metrics are associated with both the decreased social behaviors and their recovery following drug treatment. Our findings suggest that restoring the centralities of the medial prefrontal and sensory-related cortices serve as a potential biomarker for evaluating drug efficacy in autism spectrum disorder.
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37. Vlasits AL, Syeda M, Wickman A, Laskey E, Guzman P, Schmidt TM. Atypical Retinal Ganglion Cell Function in a Mouse Model of Fragile X Syndrome. J Neurosci;2025 (Jul 2);45(27)
The altered function of peripheral sensory neurons is an emerging mechanism for symptoms of autism spectrum disorders. Visual sensitivities are common in autism, but whether differences in the retina might underlie these sensitivities is not well understood. This includes fragile X syndrome (FXS), which is the most common syndromic cause of autism. We explored retinal function in the Fmr1 knock-out mouse model of FXS. We focused on a specific type of retinal neuron homologous with primate ganglion cells, the « sustained On alpha » retinal ganglion cell, which plays roles in contrast sensing and binocular vision in mice. We found that these cells exhibit changes in dendritic structure and dampened responses to light in male Fmr1 knock-out mice. We show that decreased light sensitivity is due to increased inhibitory input and reduced E-I balance. The change in E-I balance supports the maintenance of circuit excitability similar to what has been observed in the cortex. However, this maintenance also reshapes the tuning of this retinal ganglion cell type. These results show that loss of Fmr1 in the mouse retina affects the sensory function of one retinal neuron type. As other retinal cell types also express Fmr1, FXS may affect the tuning of retinal cells more broadly. Our findings suggest that the retina may be relevant for understanding visual function in FXS.
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38. Wang B, Dong H, Xue Y, Bai M, Cui Y, Zhao T, Jia F. Sex-Specific effects of vitamin D on autistic behavior and gastrointestinal symptoms in rats via the regulation of serotonin metabolism. Sci Rep;2025 (Jul 1);15(1):21769.
Vitamin D (VitD) deficiency (VDD) during prenatal and early brain development may be an environmental risk factor for autism spectrum disorder (ASD). While supplementation with high-dose VitD can improve core ASD symptoms, its mechanism is unclear. In addition, VitD regulates the serotonin (5-HT) pathway, which has been shown to be closely related to ASD. To explore the relationships among VitD levels, 5-HT levels and ASD symptoms, a valproic acid (VPA)-induced ASD rat model was constructed. From pregnancy to early postnatal life, VitD levels were modulated. Both VDD and ASD male rats exhibited ASD core symptoms and gastrointestinal dysfunction, with decreased 5-HT, VitD receptor (Vdr), and tryptophan hydroxylase (Tph) activity in intestinal and brain tissues. VitD supplementation alleviated ASD symptoms, improved gastrointestinal function, and increased 5-HT levels, Vdr, and Tph activity in male rats. Female rats in VDD and ASD groups showed no significant changes. Our findings suggest that 1,25(OH)(2)D(3) enhances Tph1/2 mRNA levels via Vdr activity, increasing 5-HT levels. This study provides insights into VitD, 5-HT metabolism, and ASD, offering potential directions for subtype analysis and therapeutic interventions.
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39. Wang W, Liu Z, Wu D, Qiu X, Li Y, Chen L, Zhang J, Wang S, Tian Y, Zhang Y, Zhu D, Song J, Chen J. Improving Autism Detection Through Telemedicine in China: A Comparative Analysis of Multitool-Combined Screening Protocols. Telemed J E Health;2025 (Jul 2)
Background: Autism spectrum disorder (ASD) prevalence is rising globally, yet traditional face-to-face screening faces challenges, especially during COVID-19. Telemedicine offers a viable alternative for remote ASD detection. Telemedicine offers a promising alternative for remote ASD screening. This study aimed to enhance ASD screening efficiency through telemedicine by integrating multiple early screening tools and comparing their combined efficacy in China. Methods: A cross-sectional, observational, multicenter study was conducted in three districts of Shanghai, utilizing a telemedicine system, the Early Childhood Development Screening, which includes the Warning Signs Checklist for Screening Psychological, Behavioral, and Developmental Problems of Children (WSC), the Early Behavioral Markers of Autism-Five No’s behavior, and section A of the Modified Checklist for Autism in Toddlers-23 (CHAT-23-A). Children aged 18 to 36 months were screened, and the Childhood Autism Rating Scale was used as a diagnostic tool. The study evaluated the sensitivity, specificity, and screening performance of these tools individually and in combination. Results: A total of 1,102 valid cases were screened with an effective rate of 83.30%. The WSC and the Five No’s demonstrated high sensitivity (90.9%), while the CHAT-23-A showed higher specificity (88.6%) but lower sensitivity (63.6%). In parallel testing, the combination of WSC and Five No’s maintained high sensitivity but reduced specificity. Serial testing improved specificity to 97.6% with the triple test but at the cost of lower sensitivity. The area under the receiver operating characteristic curve and the Youden index were highest for the WSC and Five No’s combination in serial testing. Conclusions: The study presents a novel ASD screening combination protocol with good sensitivity and specificity, validated through a telemedicine system. This protocol is expected to enhance the accuracy and efficiency of early ASD screening, improving long-term prognoses for children and contributing to their healthy development.
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40. Xia D, Xu Y, He Z, Chen R, Xiao X, Li X, Deng K, Deng S, Zhang L, Zhang J, Peng X, Meng Z, Wu R, Wang D, Liu Z, Chen H, Li L, Liang L. Novel ANKRD17 variants implicate synaptic and mitochondrial disruptions in intellectual disability and autism spectrum disorder. J Neurodev Disord;2025 (Jul 2);17(1):36.
ANKRD17 has recently been implicated in intellectual disability (ID) and autism spectrum disorder (ASD); however, the underlying molecular mechanisms remain unclear. Using trio whole-exome sequencing (Trio-WES) and chromosomal microarray analysis (CMA), we identified two unrelated cases with novel de novo heterozygous ANKRD17 variants. Case 1 describes a fetus with multiple congenital anomalies, where genetic analysis revealed a microdeletion at 4q13.3 truncating the ANKRD17 gene. Case 2 involves a 12-year-old male presenting with mild ID and progressive social impairments, associated with a NM_032217.5: c.1252 C > T (p.Arg418*) variation in ANKRD17. Our study highlighted in mouse models an association between Ankrd17 haploinsufficiency and deficits in social behavior, spatial learning and memory, as well as elevated anxiety. Furthermore, our studies suggest dysregulation of synaptic proteins and mitochondrial function, along with impaired neural circuits following Ankrd17 knockdown. These results expand the genetic and phenotypic spectrum of ANKRD17-related disorders, underscore the critical role of mitochondrial dysfunction in the pathophysiology of ANKRD17-related ID and ASD.
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41. Yevtushok T, Petronzi D. « Like something supernatural in your house »: an interpretative phenomenological analysis to explore the experiences and psychological challenges of parents raising children with autism spectrum disorder. BMC Psychol;2025 (Jul 1);13(1):642.
BACKGROUND: Parents raising children with ASD face profound psychological challenges. While existing research predominantly focuses on parental distress, opportunities for growth and transformation remain underexplored. Addressing these gaps, this study employs an existential framework and Interpretative Phenomenological Analysis to provide a nuanced understanding of parental psychological experiences, emphasizing how they navigate and transcend the challenges of raising a child with ASD. METHODS: Semi-structured interviews were conducted with four parents (three mothers and one father) of children diagnosed with ASD for at least three years. Participants ranged in age from 31 to 50 years, while their children, all male, were aged 11 to 22 years. The participants represented diverse geographic backgrounds, including Canada, the United Arab Emirates, the United Kingdom, and the United States. RESULTS: The analysis identified two superordinate themes: « From Existential Crisis to Enlightenment » and « Transcending Challenging Experiences. » Participants initially experienced an emotional breakdown following their child’s diagnosis, marked by grief and uncertainty. Over time, they transitioned from despair to faith, cultivating acceptance and spiritual beliefs as essential coping mechanisms. They also confronted significant emotional challenges, including guilt, fear of death, and communication struggles, ultimately fostering resilience and forming transcendent relationships with their children. CONCLUSIONS: The findings illuminate the dual dimensions of the parental experience, encompassing both distress and growth. This study offers deeper insights into the emotional and existential aspects of parenting a child with ASD and underscores the need for tailored interventions to support parents in navigating these transformative journeys.