Pubmed du 23/12/25
1. Bagale A, Ojha AR, Lamichhane M. Experience and coping strategies of parents of children with autism: A qualitative study. PLoS One. 2025; 20(12): e0339349.
BACKGROUND: The neurodevelopmental disorder known as autism spectrum disorder (ASD) affects people of all racial, ethnic, and socioeconomic backgrounds. Although the study of autism is burgeoning with important implications both for public health and society, there is little research exploring the experiences of raising a child with autism spectrum disorder (ASD) from the Parent’s perspectives. The aim of this study was to explore experiences and coping strategies of parents of children with ASD in Nepal. METHODOLOGY: A descriptive phenomenological design explored the lived experiences of nine parents raising children with ASD in Nepal. Participants were purposively selected from the Pediatric OPD of Patan Academy of Health Sciences. Data were collected through in-depth, semi-structured interviews in Nepali and analyzed using Colaizzi’s method. The interview guide, adapted from Batchelor (2017) and the Chronic Sorrow Instrument, explored emotional, social, financial, and caregiving experiences. Researcher bias was minimized through bracketing and reflexive journaling, and trustworthiness ensured via member checking, audit trails, and peer debriefing. Ethical approval was obtained from the PAHS Ethical Review Board, with informed consent and confidentiality maintained. RESULTS: Five major themes emerged: psychological impact (emotional burden, hope and uncertainty, guilt), physical impact (fatigue, sleep deprivation, safety concerns), social impact (isolation, stigma, family sacrifices), career impact (job loss, reduced opportunities), and financial impact (high costs, limited resources). Coping strategies included crying, listening to religious music (bhajans), meditation, and practicing positive thinking. Some parents reframed their experience as an opportunity to help others. CONCLUSION: Parents raising children with autism in Nepal face profound emotional strain, physical fatigue, social isolation, career disruption, and financial pressure. These challenges were especially evident among mothers, who formed the majority of caregivers. Despite early diagnosis and continued care, families reported limited resources and persistent social stigma. Yet, many parents showed determination and resilience in supporting their children’s development. These findings emphasize the need to strengthen family-centered support, accessible services, and community awareness to better address the lived realities of caregivers.
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2. Bedard A, Fyffe L. « It Changed My Perspective »: Embedding Occupational Therapy Within an Early Childhood Education Centre Provides Inclusive Developmental Support and Access to Early Intervention. Child Care Health Dev. 2026; 52(1): e70223.
BACKGROUND: Early intervention (EI) provides critical support to young children with developmental delays, aiming to optimize their development and learning readiness. However, studies have shown that 74% of eligible children never receive a referral for EI services. This pilot study explored the impact of the Occupational Therapy Embedded in Early Childhood (OTEEC) Partnership Model, where providers support all children enrolled at a childcare centre, on young children’s access to developmental support in the context of early childhood education. METHODS: We used a case study approach to explore parent, teacher and administrator perspectives on a 10-week pilot trial of embedded occupational therapy within an early childhood education centre. We collected data through pre-implementation surveys and post-implementation focus groups with centre administration, teachers and parents. We compared children served through traditional EI pre-implementation with children supported during the embedded occupational therapy trial through record review. RESULTS: Survey and focus group data were analysed using thematic analysis. The findings reflected the three primary stakeholder groups and their related subthemes: children (you catch things early, the problem was getting solved, it makes more sense), parents (when should I be worried?, What is normal?, I feel more confident) and teachers (we had more of a relationship, it changed my perspective, my stress levels went down). Of the 80 enrolled children, four were receiving EI before the embedded occupational therapy trial. During implementation, we identified 26 who needed developmental support. CONCLUSION: Embedded occupational therapy had a significant impact on the early childhood centre’s ability to support young children’s development and participation in learning. This study highlights the need to intervene at the systems level to create inclusive early childhood classrooms by focusing on helping teachers respond to early developmental concerns and empowering parents through access to developmental specialists.
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3. Cardenas-Hernandez NA, Perez-Diaz M, García-Ramó KB, Valdés Hernández MDC. Autism spectrum disorder detection using diffusion tensor imaging and machine learning. PLOS Digit Health. 2025; 4(12): e0001155.
Autism spectrum disorder (ASD) is a neurological and developmental disorder that manifests in social and behavioral deficits. The onset of symptoms may begin in early childhood, but diagnosis is often subjective, and scores can vary between specialists. Several studies suggest that diffusion tensor imaging (DTI)-derived indicators of anisotropy in water diffusion at microstructural level could be biomarkers for this disorder. Emerging advances in neuroimaging and machine learning can provide a fast and objective alternative for its early diagnosis. We propose and evaluate a machine-learning (ML)-powered computer-aided diagnosis (CAD) system for the detection of ASD from DTI. For the development and validation of the system we used the ABIDE II database (n = 150). The system involves processing the raw DTI to obtain fractional anisotropy (FA), mean diffusivity (MD), radial diffusivity (RD) and axial diffusivity (AD) in 25 ASD-relevant regions of interest defined in the JHU ICBM-DTI-81 White-Matter Labeled Atlas to train a ML binary classifier. We evaluated the use of support vector machine (SVM) with various kernels and random forest (RF) optimized for computational efficiency. The best configuration, which used RF, had a sensitivity of 100%, accuracy of 95.65%, precision of 91.67%, and a specificity of 91.67%. An external test yielded 94.73% sensitivity, 97.37% accuracy, and 100% in precision and specificity. Results in this small sample show the generalization power of the best model, and the utility of carefully leveraging imaging information with clinical knowledge on relevant white matter regions commonly affected by ASD to design a CAD system for ASD.
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4. Chen Q, Xu J, Yang J, Qin X, Fan J, Ke H, Yang Z, Zheng W, Li X, Huang L, Ning W. Gut microbiota analysis in children with autism spectrum disorder and their family members. Sci Rep. 2025; 15(1): 44282.
Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by deficits in social communication and interaction, alongside restricted, and repetitive behaviors. Emerging evidence suggests that gut microbiota alterations may contribute to ASD pathogenesis via the gut-brain axis. However, many previous studies have not adequately controlled for confounding genetic and environmental variables. In this study, we examined the gut microbiota profiles of 19 children with ASD, 8 siblings with non-ASD, and 36 parents from 17 families, providing a unique design that minimized biases related to shared genetic and familial environments. Metagenomic sequencing revealed significant differences in gut microbiota diversity and composition between groups. Specifically, children with ASD had lower abundances of Bifidobacterium and higher abundances of both Bacteroides and Clostridium species compared to their siblings, with notable dysbiosis correlated to ASD-specific symptoms. These findings highlight the potential role of microbiota alterations in ASD pathogenesis and suggest familial microbiota traits influenced by both genetic and environmental factors. Further exploration of gut microbial therapies could offer promising avenues for ASD intervention.
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5. Chen X, Peng J, Zhang Z, Song Q, Li D, Zhai G, Fu W, Shu Z. Constructing a Predictive Model for Children with Autism Spectrum Disorder Based on Whole-Brain MR Radiomics: A Machine Learning Study. AJNR Am J Neuroradiol. 2025.
BACKGROUND AND PURPOSE: Current autism spectrum disorder (ASD) diagnosis depends on subjective behavioral assessments causing delays and variability. Structural MRI shows brain abnormalities but traditional analysis lacks sensitivity. This study aims to construct a prediction model based on whole-brain imaging radiomics analysis by using machine learning for identifying children with ASD. MATERIALS AND METHODS: This study used imaging and clinical data from 223 subjects in the Autism Brain Imaging Data Exchange database, including 120 patients diagnosed with ASD. These data were randomly divided into training and test sets in a 7:3 ratio. An independent external test set comprising 87 participants (38 with ASD) from the Georgetown University and University of Miami ASD data set was also utilized. Then, quantitative radiomics features of white matter, gray matter, and CSF were extracted from the whole-brain MR structural images of each subject, and feature dimensionality reduction was performed based on the training set data to construct radiomics signature. Afterward, multivariate logistic regression was used to screen independent predictors of ASD from clinical features and then, combined with radiomics signature, multiple machine learning models were constructed to predict ASD. Finally, the optimal model was selected, and the receiver operating characteristic curve was used to evaluate the training, test, and external test sets data. Simultaneously, the model divides the data set into low-risk and high-risk subgroups, comparing the actual number of individuals with ASD between the 2 subgroups to evaluate the clinical efficacy of the model. RESULTS: The areas under the curve (AUCs) of radiomics markers in the training set, test set, and external test set were 0.78 (95% CI, 0.71-0.85), 0.75 (95% CI, 0.67-0.83), and 0.74 (95% CI, 0.64-0.83), respectively. Multivariate logistic regression showed that the Verbal Intelligence Quotient (VIQ) was a predictor of ASD. The joint model constructed by the decision tree algorithm with radiomics markers performed best, with AUC of 0.87 (95% CI, 0.81-0.92), 0.84 (95% CI, 0.76-0.91), and 0.83 (95% CI, 0.74-0.91), a sensitivity of 0.89 (95% CI, 0.82-0.95), 0.84 (95% CI, 0.73-0.93), and 0.86 (95% CI, 0.72-0.96), and the specificity of 0.70 (95% CI, 0.60-0.79), 0.63 (95% CI, 0.52-0.74), and 0.66 (95% CI, 0.49-0.80), respectively. The low-risk subgroup and high-risk subgroup classified according to the cutoff value of 0.4285 of the model showed statistically significant differences in the actual number of patients with ASD in the training set (χ(2) = 21.325; P < .05), the test set (χ(2) = 5.379; P < .05), and the external test set (χ(2) = 21.52; P < .05). CONCLUSIONS: Radiomics signature for identifying ASD can be constructed based on whole-brain MRI imaging features. The performance of identifying ASD can be improved by adding VIQ data and the decision tree algorithm model, which can provide an adaptive strategy for clinical practice.
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6. Couto-Rosa L, Schultz PV, Brambila-Manso B, Rocha KSS, Ayres LR, de Araújo D, Santos Júnior GAD. Knowledge of pharmacy students about autism spectrum disorder in Brazil. Sci Rep. 2025; 15(1): 44337.
Pharmacy students’ and pharmacists’ limited knowledge about Autism Spectrum Disorder (ASD) can have negative impacts on health care for these individuals. In Brazil, no studies have assessed ASD knowledge among Pharmacy students. This study aims to assess the ASD knowledge among Pharmacy students in Brazil. A cross-sectional survey was conducted with Pharmacy students in Brazil from September 2021 to August 2022. Participants answered online questions about sociodemographic data, contact with people with ASD, and the Brazilian validated version of the Autism Stigma Knowledge – Questionnaire (ASK-Q Brazil), a 49-item questionnaire that assesses ASD knowledge and stigma. Descriptive statistics and the T test were used. This study was approved by the Research Ethics Committee (Opinion No. 4,464,411). Of the 397 students who participated, most demonstrated adequate knowledge and did not endorse ASD stigma: etiology (99.0%), diagnosis/symptoms (97.0%), treatment (98.7%), and lack of stigma endorsement (100.0%). Those who had a family member with ASD had the highest correct answers in the treatment (p = 0.001; d = 0.45) and diagnosis/symptoms (p = 0.015; d = 0.24) domains. This study showed that almost all students have adequate knowledge about ASD and do not endorse stigma. The results can contribute to the definition of strategies to improve the qualification of future pharmaceutical professionals.
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7. Enav Y, Barel Refaeli L, Levinger I. Parental reflective functioning: A study of siblings in families with autistic versus typically developing children. Res Dev Disabil. 2025; 168: 105194.
Parental Reflective Functioning (PRF) refers to parents’ ability to understand and respond to their child’s mental states. Prior research found that parents show heightened PRF toward their autistic children compared to their typically developing (TD) siblings. However, little is known about how such patterns vary across families with and without an autistic child. This study aimed to replicate previous findings and examine how families with and without autistic children differ in PRF. Thirty parents with autistic and TD child, and 30 parents with only TD children completed for each of their children the Parental Reflective Functioning Questionnaire (PRFQ) and the Five-Minute Speech Sample (FMSS-RF) resulting in 120 individual PRF assessments. Data were analyzed using one-way ANOVAs and χ² tests to compare PRF across siblings and family types. RESULTS: showed significantly higher PRF for autistic children compared to their TD siblings. This pattern emerged across both positive (e.g., interest and curiosity) and negative (e.g., pre-mentalizing modes, which capture distorted or absent mentalization) dimensions, suggesting a complex and potentially ambivalent parental stance. When comparing between families, those including an autistic child showed similarly elevated levels of pre-mentalizing towards both children, whereas families of only TD children exhibited greater differentiation in pre-mentalizing across siblings – indicating a distinct within-family pattern in autism contexts. These findings underscore the unique demands on parents raising autistic children and highlight a potential disparity in PRF that may impact TD siblings. The study calls for further research and family support strategies.
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8. Gautam A, Kaelber D, Davis P, Terebuh P, Xu R. Developing Topics. Alzheimers Dement. 2025; 21 Suppl 7(Suppl 7): e108233.
BACKGROUND: While intellectual disability (ID), which often co-occurs with autism, is a known risk factor for dementia, the risk of dementia in higher-functioning adults with ASD remains understudied. METHOD: This retrospective cohort study used electronic health records data from the TriNetX analytics platform, which contains over 134 million aggregated, deidentified U.S. records, to construct four cohorts of adults 30 years or older with: ASD only (n = 21,648), ID only (n = 42,343), both ASD and ID (n = 8,252), and neither diagnosis (n = 3,050,072). After propensity-score matching cohorts for age and dementia risk factors, the risk of dementia after 3 and 10 years was compared by Kaplan-Meier curves and hazard ratios. RESULT: The mean age of the ASD and general population cohorts after matching was 35.6 ± 9.42 and 35.5 ± 9.39, respectively. A new diagnosis of dementia was substantially more common in the population with ASD (HR=5.8; 95% CI: 3.9-8.5) at 3 years and (HR=5.0; 95% CI: 3.9-6.3) at 10 years. The HR for the cohort with both ASD and ID (mean age 36.2 ± 9.61 and 36.2 ± 9.62, respectively) was even greater compared to the general population (HR=12.5; 95% CI: 6.1-25.6) at 3 years and (HR=8.0; 95% CI: 4.4-14.6) at 10 years. CONCLUSION: Our findings suggest that adults diagnosed with ASD may be at higher risk of developing dementia compared to peers without ASD. Smaller studies of ASD patients have also shown an association between ASD alone and ASD with ID and increased dementia risk compared to the general population, but both of less magnitude. These cumulative findings underscore the importance of heightened awareness and earlier dementia screening in autistic adults.
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9. Harker SA, Piras I, Huentelman MJ, Taguinod F, Lewis CR, Braden BB. Public Health. Alzheimers Dement. 2025; 21 Suppl 6(Suppl 6): e100506.
BACKGROUND: Recent evidence from Medicare data suggests that older autistic adults are 18 times more likely to be diagnosed with Alzheimer’s disease (AD) compared to non-autistic adults but understanding of heterogeneity in cognitive and brain aging with autism is lacking. Genetics explain substantial variance in cognitive aging outcomes and incidence of neurodegenerative disease, but there are no genetically-informed studies of aging with autism. Polygenic risk scores (PRS) are a tool to measure an individual’s genetic liability to a certain trait, which has shown to be very effective for predicting AD cases. We aim to 1) Determine whether autistic individuals carry a higher cumulative genetic risk for AD compared to non-autistic individuals and 2) Determine if AD-PRS differentially moderates memory performance in autistic vs. non-autistic adults METHOD: Participants were 53 autistic and 48 non-autistic adults ages 18-70 (38.62±16.75). DNA was extracted from saliva using Oragene’s DNA purification protocol and genotyped on the Illumina Global Diversity Array with an additional 180K neurodegenerative disease markers, then imputed for whole genome coverage through the TOPMed server. AD-PRS was generated from a Genome Wide Association Study of 71,880 AD and 383,378 controls using the PRSice-2 software. We performed an ANCOVA to test a diagnostic group difference in AD-PRS, controlling for sex, and the interaction between group and sex. Additionally, we tested a diagnostic group difference in long-term memory (AVLT A7), controlling for sex, age, AD-PRS, and the interaction between group, sex, and AD-PRS. RESULT: The autism group had a significantly larger AD-PRS (p = 0.030), and significantly worse long-term memory scores (p = 0.043) than non-autistic controls. There was an interaction between autism diagnosis and AD-PRS (p = 0.05) that was driven by a negative slope in the autism group. CONCLUSION: This study was the first to investigate cumulative genetic risk for AD in autistic adults and found that autistic adults have a greater genetic risk in comparison to non-autistic adults. Synoptically, we found that the Alzheimer’s PRS has a greater negative impact on cognitive function in autistic adults compared to non-autistic adults.
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10. Huang H, Zhu H, Tang H, Jin S, Zhao Y, Zou Y, Peng X, Xu S. Efficacy of the Picture Exchange Communication System for children with autism in Mainland China: A systematic review and meta-analysis of randomized controlled trials. Res Dev Disabil. 2025; 168: 105190.
OBJECTIVE: This systematic review and meta-analysis aimed to investigate the efficacy of the Picture Exchange Communication System (PECS) in improving communication skills and related collateral outcomes among children with autism in Mainland China, and to identify potential moderators. METHODS: Following PRISMA 2020 guidelines, seven databases were searched from inception to July 31, 2025 for randomized controlled trials (RCTs) on PECS for children with autism in Mainland China. Pooled standardized mean differences (SMD) with 95 % confidence intervals (CI) were calculated using random-effects models. Sensitivity and subgroup analyses assessed heterogeneity and robustness. RESULTS: Thirty-seven RCTs were included (34 in meta-analysis; n = 2343). PECS demonstrated a large, significant overall effect (SMD = 0.95, 95 % CI: 0.76, 1.13), with substantial improvement in communication skills (SMD = 0.94, 95 % CI: 0.67, 1.21) and notable collateral benefits for cognitive function (SMD = 2.46), core autistic symptoms (SMD = 1.62), health-related quality of life (SMD = 0.91), social skills (SMD = 0.88), maladaptive behaviors (SMD = 0.83), mental health (SMD = 0.73), and motor skills (SMD = 0.55). No significant effect was found for language development (SMD = 0.44, 95 % CI: – 0.53, 1.41). Interventions delivered by medical professionals in clinical settings demonstrated a significant and large effect (SMD = 0.92, 95 % CI: 0.74, 1.11), whereas the limited number of studies conducted in educational settings by educational professionals produced a larger point estimate but non-significant effects. No statistically significant moderation was detected for study population, economic region, intervention frequency, PECS phase, or study quality (all interaction tests non-significant). CONCLUSION: PECS demonstrates a large and significant effect on communication skills and several collateral outcomes for children with autism in Mainland China, supporting its a promising, effective intervention.
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11. Jaimes-Buitron PA, Neely L, Svoboda MD, Gemeinhardt G, Vivas-Valencia C. Utilization of psychotropic medications in individuals with autism spectrum disorder. BMC Psychiatry. 2025.
BACKGROUND: Second-generation antipsychotics (SGAs), specifically aripiprazole and risperidone, and selective serotonin reuptake inhibitors (SSRIs), are psychotropic medications commonly prescribed to individuals with autism spectrum disorder (ASD). However, it is unclear how often individuals with ASD initiate with SGAs, how frequently they switch medications, and how utilization has changed over time. This study investigates trends in psychotropic medication use among individuals with ASD in the USA from 2012 to 2021. METHODS: We analyzed a national cohort of commercially insured individuals with ASD aged 2 to 26 years using data from the IQVIA PharMetrics Plus for Academics database. Individuals were classified as newly prescribed if they had not previously received a prescription for the medication before the study period, and no prescription in the period immediately preceding it. We examined trends in psychotropic medication utilization yearly and conducted a detailed month-by-month analysis for 2019. A Mann-Whitney U test was used to compare medication switching rates between SSRIs and SGAs. RESULTS: Among 24,730 individuals, 64.6% were prescribed SGAs or SSRIs. Medication switching was more frequent among those initially prescribed aripiprazole or risperidone (6.13% annually) compared to those starting with SSRIs (3.41%). The Mann-Whitney U test (W = 67, p < 0.05) confirmed a significant difference in switching rates between the two groups. Switching from risperidone decreased from 2012 to 2021 (Spearman's ρ = -0.32), whereas switching from aripiprazole increased (Spearman's ρ = 0.50). CONCLUSIONS: Individuals with ASD newly prescribed SGAs switched to other drug classes nearly twice as often as those prescribed SSRIs. The higher switching rate may be influenced by adverse effects or insufficient symptom improvement. Future studies should explore long-term outcomes and the clinical decision-making processes underlying medication changes. CLINICAL TRIAL NUMBER: Not applicable.
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12. Lima MES, Lopes LME, Lima FES. Impact of screen use on behavior and sleep in patients with autism spectrum disorder. Arq Neuropsiquiatr. 2025; 83(12): 1-6.
The increasing screen time among the pediatric population is a detrimental factor for cognitive and psychosocial development, especially for children with autism spectrum disorder (ASD). However, there are still many questions regarding its negative effects on behavior and sleep in this population group and, as of the writing of this study, there are no specific recommendations regarding screen use for children with ASD.To synthesize and analyze the current evidence on the association between screen exposure time, behavioral symptoms, and sleep disorders in ASD children.The authors provided a Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) checklist adapted review of studies that examined the association between screen time and both autistic symptoms and sleep disturbances in this patient population.Research indicates that excessive screen use among ASD children, particularly in preschool-aged children, may be associated with significant behavioral, emotional, and sleep quality impacts. The screen time recommendations set by the World Health Organization for the general pediatric population could also be applied to these children, at least until new studies can clarify specific guidelines, taking their particularities into account.This review article explores the current evidence on the association between excessive screen time and both autistic symptoms and sleep disturbances in ASD, underscoring the relevance of further clinical investigation.
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13. Lunsky Y, Chiu M, Thakur A, Patel P, Bobbette N, Volpe T, Balogh R, Steel L, Baskin A, Lobo A, Lake J. Public Health. Alzheimers Dement. 2025; 21 Suppl 6(Suppl 6): e104552.
Adults with intellectual and/or developmental disabilities (IDD) face increased risks of age-related health issues, including dementia, yet current brain health initiatives often overlook the needs of this unique population. To address this gap, our team developed the Brain Health-IDD program – a co-designed virtual education initiative aimed at promoting brain health among aging adults with IDD (aged 40+), and family caregivers. The program utilizes an integrated Knowledge Mobilization (KMb) approach, engaging individuals with lived experience, community members, and professionals throughout the co-design process to ensure relevance and inclusivity. Family caregivers of individuals with IDD are at a heightened risk of developing dementia themselves, due to the chronic stress associated with the caregiver role. Although some supports focus on assisting aging parents and siblings supporting these individuals, minimal attention has focused on the long term impacts of caregiving on their brain health. The Brain Health-IDD Family course aims to mitigate this risk by providing caregivers with critical information on brain health, stress management, and strategies for improving their own cognitive and physical well-being. By improving caregiver self-efficacy, the program seeks to reduce stress, promote resilience, and ultimately improve the long-term health outcomes for caregivers, in addition to the individuals they support. Because the program is virtual, it is available to aging family caregivers from across Canada, and not reliant on local expertise. The Brain Health-IDD Family course consists of 6 weekly 90-minute virtual sessions, co-led by interdisciplinary teams of caregivers, brain health experts and clinician scientists. The primary objectives of the program are to encourage changes in health behaviors, physical and mental well-being, and the initiation of cognitive screening among participants. To evaluate impact of our Program, we use a mixed-methods, pre-post study to collect caregivers’ outcomes at baseline, 7 weeks (post-intervention), and 18 weeks. Data from satisfaction surveys, qualitative interviews, and open-text surveys from the first cohort have informed the iterative refinement of course content and delivery. The third cohort will participate in the program between February and March of 2025, with analysis completed on over 100 aging family caregivers by summer of 2025.
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14. Machado S, Ferreira-Garcia R, Gonçalves LL, Carta MG, Appolinario JC, Nardi AE. Virtual Reality as a Neuroaffirmative Tool for Autistic Individuals: Progress and Limitations. Braz J Psychiatry. 2025.
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15. Russo N, Osborne J, Soto EF, Zemla JC, Burack JA. The Developmental Approach to Autism Science: Considering Cognitive Ability in the Age of Neuroimaging Research. Dev Psychobiol. 2026; 68(1): e70114.
Over the last 75 years, the developmental approach to developmental disability has touted-as one of its central tenets-the need to consider development in our understanding of developmental difference. This idea can be examined in many ways, but operationally and pragmatically, it has meant considering the impact of cognitive ability on our dependent variables and being mindful of the comparisons we make, and in the conclusions that we draw from those comparisons. The argument for considering the role of cognitive ability in our understanding of group differences originates in the study of intellectual disability, where there was a desire to understand profiles of strengths and weaknesses. This profile, or group difference approach, is also common to the field of autism and is particularly relevant to neuroscience-focused work. While many autistic people do not have co-occurring intellectual disability, IQ differences between groups can still obscure findings. Here, we aim to highlight reasons why the consideration of cognitive ability in neuroscience research on autism is relevant and critical to the field.
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16. Shea L, Vivanti GL, Lee WL, Ventimiglia JL, Benevides T, Gitlin LN, Klinger L, Lyall KL, Lee BL, Lee NR, Rast JL, Schendel DL, Wallace GL. Public Health. Alzheimers Dement. 2025; 21 Suppl 6(Suppl 6): e100521.
BACKGROUND: Small sample sizes have constrained the examination of dementia subtypes in Autism Spectrum Disorder (ASD) compared to other groups. Data from Medicaid and Medicare, which enroll tens of millions of Americans, can address this limitation and support identification of system-level improvements to address needs of those with ASD and co-occurring dementia. This study sought to examine dementia subtypes among autistic individuals compared to other groups. METHOD: Individually-linked national Medicare and Medicaid data from 2014-2016 included individuals age 30 and older with dementia from mutually exclusive groups with ASD (2,229 with no intellectual disability (ID), 4,263 with ID), 52,198 with ID, 1,199 with Down Syndrome (DS), and a random sample of 237,009 individuals without these diagnoses (RS). The validated Bynum algorithm was organized into the subtypes shown in Table 1. The last observed dementia diagnosis was used for dementia subtype. Following preliminary analyses showing similar data for those with ASD with and without ID, a single ASD category (ASD only and ASD+ID) was used. RESULT: Unspecified dementia represented the largest proportion of cases for all groups (50.0% for ASD, 56.3% for ID, 42.1% for DS, and 54.3% for RS). The ASD group had the lowest proportion of Alzheimer’s disease cases (11.7%), compared to ID (14.2%), DS (32.2%), and RS (22%). Senile dementia represented a larger proportion of ASD dementia cases (11.5%) than the other categories combined (ID=1.5%, DS=0%, RS=0.1%). The relative proportion of other dementia subtypes did not differ substantially between ASD versus ID. The proportion of all dementia subtypes among autistic females was an average of 25% lower than females in RS. A lower proportion of all dementia cases in non-white adults was observed for ASD compared to RS. CONCLUSION: Examination of dementia subtypes suggests a lower proportion of Alzheimer’s disease and a higher proportion of Senile dementia in ASD compared to other populations under examination, whereas the proportion of other dementia subtypes was generally aligned with that of participants with ID. Non-white adults might be misdiagnosed or underdiagnosed in the ASD population, pointing to the possibility of ASD-specific service implications amid the backdrop of rising dementia cases nationally.
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17. Traetta ME, Codagnone MG, Litvak E, Maleville Corpa MJ, Uccelli NA, Zárate SC, Reinés AG. Uncovering the female phenotype in the VPA autism model: Brain-region specific synaptic pattern, microglial priming and behavioral singularity. Prog Neuropsychopharmacol Biol Psychiatry. 2025; 144: 111591.
Neurodevelopmental disorders, such as autism spectrum disorders (ASD), exhibit a poorly understood male bias. While sex differences may provide key insights into ASD etiology and treatment, the female side of animal models, such as prenatal valproic acid (VPA) exposure, remains incompletely characterized. Here, we evaluated the behavioral, synaptic, and microglial profiles of female VPA rats. Female VPA animals exhibited social deficits, including a decreased sociability index in the three-chamber test and reduced play and social-recognition behaviors in a peer-interaction test, while exploratory and repetitive activities were preserved. At the synaptic level, the medial prefrontal cortex (mPFC) showed increased synaptophysin (SYN) immunostaining, whereas the hippocampal subfield CA3, displayed reduced SYN. Additionally, CA3 neurons exhibited increased neuronal cell adhesion molecule (NCAM) immunostaining, while the mPFC showed increased levels of its polysialylated form (PSA-NCAM), resulting in distinct NCAM/PSA-NCAM ratio shifts in each region. In vitro, hippocampal and cortical neurons from female VPA animals exhibited preserved synaptic puncta number and dendritic tree length and responded to glutamate-induced remodeling similarly to controls, suggesting no intrinsic neuronal alterations. Microglia from the mPFC and the hippocampus exhibited a less ramified morphology, with increased cell numbers in the mPFC. Isolated and cultured microglia retained this reactive phenotype, yet they responded to the exposure to synaptic terminals similarly to controls. Our findings indicate that female VPA rats display a distinctive social deficit linked to brain-area-specific synaptic remodeling impairment and microglial reactivity. Sex-differences in the VPA model could provide valuable insights into neuron-glia interactions underlying autism.
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18. Tran L, Vu F, Tran ZV. Developing Topics. Alzheimers Dement. 2025; 21 Suppl 7(Suppl 7): e108250.
BACKGROUND: Alzheimer’s disease (AD) and Rett syndrome (Rett) share overlapping genetic and molecular features. NA-831, a small-molecule drug, promotes neuroprotection and neurogenesis for AD treatment. NA-921, an analog of NA-831, modulates MeCP2 expression and function for Rett treatment. METHOD: NA-831: A randomized clinical trial was conducted in 112 participants with mild to moderate AD. Subjects were randomized to receive either NA-831 or placebo. Patients with mild cognitive impairment (MCI) received 10 mg/day of NA-831 or placebo orally, while patients with mild to moderate AD received 30 mg/day. Subjects with MCI to meet the NIA-AA core clinical criteria, CDR score of 0.5 and a Memory Box score of 0.5 or greater at Screening and Baseline and an MMSE ≥22. Subjects with mild to moderate AD had MMSE scores between 17-21. (ClinicalTrials.gov ID: NCT03538522) NA-921: A randomized, double-blind, placebo-controlled Phase 2/3 study evaluated NA-921 (Bionetide) in girls and women with Rett syndrome. (ClinicalTrials.gov ID: NCT06849973) RESULT: NA-831: After 24 weeks of treatment, patients with mild to moderate AD receiving NA-831 showed a significant improvement in ADAS-Cog-13 scores, with an average change of 4.1 compared to placebo (p = 0.001; ITT). CIBIC-Plus results showed improvement in 78% of patients (p = 0.01; ITT). NA-831 was well tolerated at 30 mg/day, with no serious adverse events observed, suggesting a safer oral alternative to current AD treatments. NA-921: NA-921 significantly improved outcomes in Rett syndrome. On the Rett Syndrome Behavior Questionnaire (RSBQ), the least squares mean change at week 12 was -5.5 for NA-921 vs. -1.6 for placebo (p = 0.001; n = 86 vs. 87). For Clinical Global Impression-Improvement (CGI-I), scores at week 12 were 3.60 (NA-921) vs. 3.83 (placebo), with a significant effect size of 0.42 (p = 0.0020). NA-921 is a potential treatment for Rett Syndrome with fewer side effects and improved patient retention rates. CONCLUSION: These findings support a potential mechanistic link between Alzheimer’s disease and Rett syndrome. Both NA-831 and NA-921 show promise as novel, well-tolerated therapeutic agents. Further studies are warranted to validate these results and deepen our understanding of the shared molecular pathways between this neurodegenerative and neurodevelopmental disorder.
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19. Wendelken ME, Williams DL. Effects of an asynchronous, online training program for caregivers of children with autism using augmentative and alternative communication. Augment Altern Commun. 2025: 1-14.
Individuals with autism who are minimally speaking often use augmentative and alternative communication (AAC). Communication partner training is an integral element of AAC intervention, and caregivers are ideal communication partners for supporting their child’s language development. Asynchronous, online trainings may offer caregivers an accessible and flexible medium to learn to support their child’s AAC communication. The current study used a single-case randomized multiple-probe design to evaluate the effects of an asynchronous, online caregiver training on caregiver’s AAC strategy use in the context of shared book reading. Visual and statistical analyses were used to determine the presence and magnitude of effects. Four out of five caregivers acquired the target strategy. A functional relation was observed between the online training and caregiver strategy use in addition to individual components of the strategy (e.g., modeling). Tau-U nonoverlap calculations suggested medium to large effects of the intervention on caregiver strategy use. Asynchronous, online trainings may offer a valuable resource to caregivers of children who use AAC for communication, and caregivers may prefer the flexibility and accessibility that is associated with asynchronous trainings. Future research should work toward identifying how online programs can most effectively support widespread parent training and improve outcomes for children who require AAC.
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20. Wu S, Gong J. Effects of Peer Relationships and Teacher-Student Relationships on Aggressive Behaviors in Chinese Children With Autism Spectrum Disorders Placed in Regular Classrooms and the Mediating Role of Perceived Discrimination. Autism Res. 2025.
This study investigates the associations of peer relationships and teacher-student relationships with aggressive behaviors in Chinese children with autism spectrum disorder (ASD) placed in regular classrooms, with a specific focus on the mediating role of perceived discrimination. Data are collected from multiple sources, involving 189 ASD children and their teachers across 22 regular primary schools in Guangzhou, Guangdong Province, China. Following behavioral experiments, questionnaire assessments, and data analysis using partial least squares structural equation modeling (PLS-SEM), this study reveals three key findings: (1) both peer relationships and teacher-student relationships negatively affect aggressive behaviors in children with ASD; (2) perceived discrimination positively influences such aggressive behaviors; and (3) both peer and teacher-student relationships indirectly influence aggressive behaviors through the mediation of perceived discrimination. These findings emphasize the need of enhancing on-campus social connections to reduce perceived discrimination among ASD children, thereby mitigating aggressive behaviors, and highlight the necessity of fostering a supportive integrated educational environment in regular classroom settings. This study assesses the quality of peer relationships and teacher–student relationships, and explores their associations with aggressive behaviors in Chinese children with ASD placed in regular classrooms. Partial least squares‐structural equation modeling (PLS‐SEM) analysis revealed that conflicts with peers or teachers exert a significant effect on aggressive behaviors, with perceived discrimination as a critical mediator. Strengthening peer bonds and enhancing teacher support were found to reduce perceived discrimination and aggressive behaviors, offering practical strategies for inclusive education globally. eng.
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21. Yasmin ST, Thonse U, Amrtavarshini R, Soans S, Praharaj SK. Awareness and Knowledge About Autism Among ASHA Workers: A Cross-sectional Study. Indian J Psychol Med. 2025: 02537176251405026.
BACKGROUND: Early identification and management are associated with better outcomes for individuals with autism. However, the limited awareness of autism among frontline healthcare workers has led to delays in referrals and diagnoses. This study aims to assess awareness and knowledge about autism among Accredited Social Health Activists (ASHA) workers. METHODS: This cross-sectional study was conducted with 103 ASHA workers in Udupi district, Karnataka, India. A semi-structured assessment was used to collect socio-demographic information and assess basic awareness of autism. Knowledge of autism signs and symptoms was evaluated using items from the Indian Autism Screening Questionnaire (IASQ), which was modified for the study. RESULTS: Among the participants, 70.5% categorized autism as a mental illness. Additionally, 58.8% identified the earliest age for autism diagnosis as 03 years. Furthermore, 68.2% knew that children with autism require medication alongside other treatment modalities, such as counseling, speech therapy, and occupational therapy. Compared with those without such experience, ASHA workers with prior experience attending lectures on developmental disorders had greater knowledge of identifying symptoms of autism, including social communication deficits and restricted, repetitive patterns of behavior and interest. Three percent of the participants reported no knowledge of autism symptoms. CONCLUSION: This study revealed that ASHA workers had limited awareness and knowledge regarding autism, including its symptoms, course, and management. These findings suggest the need for more specific awareness-building programs in addition to existing training programs available for ASHA workers, which might help with the early identification and referral of children with autism for early psychosocial intervention.
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22. Yu YY, Wyman A, Faulk CJ, Fulop LJ, Greenberg RL, Benecke RM, Steinbeck LK, Foy J, Kim C, Emory GO, Storch EA, Zampella CJ, Yerys BE, Schultz RT, Parish-Morris J, Herrington JD, Clements CC. An Examination of Racial Bias in Scoring the Autism Diagnostic Observation Schedule (ADOS) Module 3: An Item Response Theory Analysis. Autism Res. 2025.
Given the rising prevalence of autism among racial minority children in the United States, but persistent service use disparities, this study examines potential bias in specific items from the autism diagnostic observation schedule (ADOS), a highly regarded autism evaluation. We leveraged unidimensional item response theory graded response models and a sample of 735 children to analyze the differential item functioning (DIF) of items within ADOS Module 3. Three items showed significant signs of racial bias: A1 (overall language level), A5 (offers information), and D5 (compulsions and rituals). On these items, Black/African American and Asian children were usually more likely to be rated as showing autistic behaviors than White children with similar autism levels. The impact of racial bias on the item score was small, and the impact on the overall test score was even smaller: on a scale of 0-48 points, the effect of racial bias was estimated at 0.23 total points for Black/African American children and 0.16 points for Asian children. Furthermore, none of the items showing significant bias contribute to the autism classification algorithm. This analysis suggests a small but detectable amount of bias in several specific ADOS items, but not in items central to informing an autism diagnosis. Thus, bias appears statistically, but not clinically, significant. This contributes to examinations of racial bias in the ADOS as the first analysis of Asian children and the first in-depth look at all items in the most commonly used version among school-aged children. In the ADOS, a widely used autism assessment, school‐age children with fluent language who are Asian or Black/African American are slightly more likely to be rated as showing autistic behaviors on 3 out of 24 items. These small differences appear on items that do not affect the total score. Still, clinicians should be aware of possible bias when evaluating Asian and Black/African American children, especially when scoring ADOS Module 3 items A1 (overall language level), A5 (offers information), and D5 (compulsions and rituals). eng.
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23. Zaben B, Tuqan AR, Hammad O, Jweiles R, Awad S, Barabrah AM, Atawneh O, Jo’beh S. Infantile-Onset Unverricht-Lundborg Disease: A Unique Case With Severe Neurological Impairment and Positive Family History. J Investig Med High Impact Case Rep. 2025; 13: 23247096251407837.
Progressive myoclonus epilepsies (PMEs) are a group of genetic disorders marked by myoclonus, epilepsy, and progressive neurological decline. Unverricht-Lundborg disease (ULD) is among the more common forms, though prevalence varies. We present the case of an 8-year-old male with infantile-onset ULD, notable for significant developmental delay and recurrent seizures. The patient developed early myoclonic jerks and tonic seizures, accompanied by cognitive impairment and global developmental delay. Family history revealed similar neurological challenges in siblings. Genetic testing confirmed a homozygous missense pathogenic variant in the cystatin B (CSTB) gene. With antiepileptic medications, seizure control improved, highlighting the role of early therapeutic intervention. ULD results from loss-of-function mutations in CSTB, leading to CSTB deficiency and impaired protease regulation. Although progressive in nature, management with appropriate therapy can reduce seizure burden and improve quality of life. This case emphasizes that PME may present early in childhood with tonic seizures and cognitive dysfunction, and early recognition is essential for optimal care.
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24. Zhang M, Zhou X. Basic Science and Pathogenesis. Alzheimers Dement. 2025; 21 Suppl 1(Suppl 1): e097126.
BACKGROUND: Sex differences significantly influence the risk and progression of neurodevelopmental and neurodegenerative disorders. Females exhibit higher susceptibility to Alzheimer’s disease (AD), while males are more prone to Parkinson’s disease and autism spectrum disorder (ASD). Despite these observations, the molecular mechanisms driving these sex differences remain poorly understood. METHOD: RNA-seq data from 2,211 samples spanning 13 brain regions and 980 individuals were obtained from the GTEx database. Autosomal genes with sex-differential expression were identified using robust linear regression, followed by meta-analysis. Genes meeting the significance thresholds (p < 0.05 and Q_pval < 0.05) were subjected to Gene Ontology analysis to explore their biological functions. Associations with neurological disorders were assessed using annotations from the GWAS Catalog. Single-cell RNA-seq data from the PsychENCODE Knowledge Portal (syn25922167) were analyzed to investigate the cell-type-specific expression patterns of the identified genes. RESULT: A total of 2,294 genes met the significance criteria (p < 0.05 and Q_pval < 0.05). Among autosomal genes with sex-differential expression, 1002 were more abundant in females and were primarily associated with neural-related pathways (e.g., synapse; p = 9.61 × 10⁻¹⁰) and immune-related pathways (e.g., lymphocyte activation; p = 3.99 × 10⁻²). Several of these neural and immune-associated genes are linked to several psychiatric disorders and AD. For instance, synaptic genes such as NRXN2 and CNTNAP2 are associated with ASD, while INPP5D, an AD GWAS hit involved in lymphocyte activation, stands out. Single-cell RNA-seq analysis revealed cell-type-specific expression patterns of these sex-associated genes. For example, INPP5D is predominantly expressed in microglia and endothelial cells, whereas NRXN2 is expressed in both excitatory and inhibitory neurons. CONCLUSION: This study highlights the critical role of sex-specific gene expression in brain disorders, particularly psychiatric disorders and AD. Synaptic and immune-associated pathways, mediated by key sex-associated genes such as NRXN2 and INPP5D, emerge as potential modulators of neurological disorders. These findings deepen our understanding of sex-specific brain pathophysiology and offer a foundation for developing personalized therapeutic strategies targeting these mechanisms.
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25. Zhong T, Wang F, Qiu J, Lu W. Brain morphological changes in autism spectrum disorder related to multiple behavioral spectrums: a behavioral-causal structural covariance network analysis. Eur Arch Psychiatry Clin Neurosci. 2025.
BACKGROUND: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by heterogeneities in behavioral symptoms and gray matter (GM) volume changes across the brain. However, progressive and causal GM volume changes and their associations with behavioral symptoms remain unclear. Our study aimed to explore the heterogeneity of causal GM volume changes in individuals with ASD across behavioral spectrums. METHODS: Brain structural imaging and clinical data of 131 autistic individuals and 246 neurotypical individuals (NTs) were included, and were clustered into neuroanatomical subtypes. A novel behavioral-causal structural covariance network (BCaSCN) analysis approach was developed. GM volume maps from each ASD subtype were sequenced according to the social responsiveness scale (SRS) value and values from each behavioral domain of SRS, generating pseudo-time series data with disease progression. We performed BCaSCN analysis on the pseudo-time series data to explore the causal relationship of the GM volume changes across behavior spectrums among ASD subtypes. RESULTS: Two neurosubtypes of ASD with distinct GM volume alterations were observed. CaSCN analysis revealed heterogeneity in causal GM volume alterations between the two ASD neurostypes. Furthermore, BCaSCN analysis across behavior spectrums demonstrated that subtype 1 exhibited higher overall out- and in-degree GC values in the cognition domain, whereas subtype 2 displayed higher overall out- and in-degree GC values in the domain of motivation, mannerism and communication. LIMITATION: CaSCN and BCaSCN applied pseudo time-series data rather than real time-series data, longitudinal data are needed to validate the results of this study in the future. Therefore, the results should be interpreted with caution. CONCLUSIONS: These findings suggest that ASD subtypes are associated with heterogeneous causal GM volume changes, which may be related to distinct behavioral domains.