Pubmed du 02/05/25

Pubmed du jour

1. Banks J, Lamichhane K, Thomas M. Engaging ethnically diverse families of children with intellectual and developmental disabilities: a systematic review. Disabil Rehabil. 2025: 1-12.

PURPOSE: Culture is a critical component of family engagement, particularly for ethnically diverse children with intellectual and developmental disabilities and their family members. Ethnically diverse families of children with intellectual and developmental disabilities often encounter challenges when attempting to access special education and social services. The purpose of this systematic literature review is to explore the ways cultural demographics impact family engagement and types of professional strategies that contribute to increased engagement for ethnically diverse family members of children with intellectual and developmental disabilities. METHODS: We conducted a systematic review of the literature using three databases and studies were published during a 22-year period. RESULTS: Twenty studies met the inclusion criteria for our systematic review of literature. Studies included ethnically diverse family members from 11 different countries. Studies included children with intellectual and developmental delays between 1 to 21 years of age. Our findings highlight cross-cultural factors that influence family engagement. CONCLUSIONS: Our findings emphasize the importance of developing professionals who understand the expectations, assumptions, and values of ethnically diverse families which can enhance outcomes for family members across various contexts. Ethnically diverse children with intellectual and developmental disabilities and their family members experience barriers when accessing services due to language difference, stigma, and lack of collaboration between families and professional service providers.Educators, clinicians, and service providers should understand the ways in which culture, religion, ethnicity, and regional location converge to create different needs for ethnically diverse families of children with intellectual and developmental disabilitie.Recent trends in globalization underscore the need to implement culturally relevant interventions for ethnically diverse children with intellectual and developmental disabilities and their family. eng.

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2. Bhusri B, Sutheeworapong S, Kittichotirat W, Kusonmano K, Thammarongtham C, Lertampaiporn S, Prommeenate P, Praphanphoj V, Kittitharaphan W, Dulsawat S, Paenkaew P, Cheevadhanarak S. Author Correction: Characterization of gut microbiota on gender and age groups bias in Thai patients with autism spectrum disorder. Sci Rep. 2025; 15(1): 15298.

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3. Feldman D, Prigge M, Alexander A, Zielinski B, Lainhart J, King J. Publisher Correction: Flexible nonlinear modeling reveals age-related differences in resting-state functional brain connectivity in autistic males from childhood to mid-adulthood. Mol Autism. 2025; 16(1): 28.

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4. Grossman RB, Sager M, Ventresca H, Mertens J, Zane E. Positive emotional valence in spontaneous facial expressions of autistic adolescents. Sci Rep. 2025; 15(1): 15341.

Facial expressions produced by autistic individuals are often perceived as difficult to interpret. Most data on facial expression production rely on posed or mimicked facial expressions, which may not be representative of spontaneous expressiveness. In this paper, we analyze facial expressions produced spontaneously in response to brief video clips. We presented a pseudo-randomized sequence of humorous and disgusting YouTube clips to autistic and non-autistic adolescents and videotaped their spontaneous facial reactions to the videos. Facial feature movements were coded for the duration (in milliseconds) and valence (positive or negative) of the expression. All coders were naïve to diagnosis and all videos were independently double coded. Autistic participants produced longer emotional facial expression durations (positive and negative) in response to video stimuli compared to non-autistic participants. Autistic adolescents specifically produced longer positive facial expressions, including in response to negative videos, a pattern not seen in non-autistic adolescents. These data provide important information regarding spontaneous facial expression production of autistic and non-autistic adolescents. Results indicate that social miscommunication between autistic and non-autistic adolescents may in part be based on autistic facial feature movements that are perceived as positive, even when they are prompted by stimuli with negative content.

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5. Gunelson AM, Kim KS, Steigerwald CG, Segal D, Abreu NJ, Yi JJ. Autism and intellectual disability due to a novel gain-of-function mutation in UBE3A. J Hum Genet. 2025.

The loss of maternal UBE3A causes Angelman syndrome whereas its duplication is associated with a heterogeneous neurodevelopmental disorder. Here, we describe two affected brothers who possess a novel UBE3A(L734S) variant that is not present in two neurotypical siblings. The UBE3A(L734S) variant was confirmed to be maternally inherited, and the affected individuals exhibited early global developmental delay, ongoing learning difficulties, and autistic features. Their phenotypes were inconsistent with Angelman syndrome. Biochemical characterization showed the UBE3A(L734S) variant causes a dramatic increase in the activity of the UBE3A enzyme, suggesting that a gain in UBE3A activity is the driver of neurodevelopmental disease. Our observations document an emerging class of neurodevelopmental disorders caused by gain-of-function mutations in UBE3A.

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6. Liu Y, Zhao Q, Zhao L, Liu Y, Li X. Modeling Temporal Dependencies in Brain Functional Connectivity to Identify Autism Spectrum Disorders Based on Heterogeneous rs-fMRI Data. Exp Neurobiol. 2025; 34(2): 77-86.

Brain functional connectivity has shown promise for developing objective biomarkers for autism spectrum disorder (ASD). Although many imaging studies have demonstrated its potential, most have focused on static measurements. In this study, we explored the dynamic changes in functional connectivity over time to uncover potential temporal dependencies. These dynamic patterns were abstracted into high-level representations and used as predictors to identify individuals at risk of ASD. To achieve this, we employed a deep learning framework that combines attention mechanism with long short-term memory (LSTM) neural network. Experiments were conducted using heterogeneous resting-state functional magnetic resonance imaging (rs-fMRI) data from the Autism Brain Imaging Data Exchange (ABIDE) database. The resulting classification achieved an accuracy of 74.9% and precision of 75.5% under intra-site cross-validation, outperforming traditional classifiers such as support vector machines (SVM), random forests (RF), and single LSTM network. Further analyses demonstrated the robustness and generalizability of our model, with classification performance less affected by subjects’ gender or age. The optimal model’s weights revealed atypical temporal dependencies in the brain functional connectivity of individuals with ASD, highlighting the potential for these patterns to serve as biomarkers. Our findings underscore the importance of dynamic functional connectivity in understanding ASD and suggest that our deep learning framework could aid in the development of more accurate and reliable diagnostic tools for this disorder.

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7. Pelizza L, Federico A, Leuci E, Quattrone E, Palmisano D, Pupo S, Paulillo G, Pellegrini C, Pellegrini P, Menchetti M. Autism characteristics in young patients with first episode of schizophrenia spectrum disorder: findings from a 2-year longitudinal research. J Psychiatr Res. 2025; 186: 407-15.

PURPOSE: The PANSS Autism Severity Score (PAUSS) is a recent popular measure of autistic characteristics in Schizophrenia Spectrum Disorders (SSD). Evidence on its factor structure, longitudinal course, and treatment response is poor. The main aims of this investigation were: to examine its internal consistency and factor configuration in young patients with first-episode SSD treated in an Early Intervention (EI) service, and to compare clinical outcomes between SSD individuals with or without « autistic features » across 2 years of follow-up, as well as their treatment response. METHODS: SSD participants completed the Positive And Negative Syndrome Scale (PANSS), the Global Assessment of Functioning (GAF), and the Health of the Nation Outcome Scale (HoNOS) across the follow-up. Statistical tests included the α statistic, Exploratory Factor Analysis, Kaplan-Meyer survival analysis, mixed-design ANOVA, and multiple linear regression analysis. RESULTS: 170 SSD individuals were enrolled (58 [34.1 %] scoring above the PAUSS cut-off [PAUSS+]). Internal consistency of the PAUSS was acceptable (α = .792). EFA identified a 3-factor model. At baseline, PAUSS + individuals showed greater severity in psychopathology and social decline. Across the follow-up, PAUSS + individuals had lower incidence rates of symptomatic remission. No PAUSS long-term stability was found, but a significant reduction that was predicted by lower antipsychotic dosage and higher number of case management sessions offered along the follow-up. CONCLUSIONS: The PAUSS seems to capture a SSD subgroup characterized by higher baseline severity levels in psychopathology and poorer outcomes.

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8. Shibu P, Ra D, Robins JE, Joseph S, Anteraper S. Terra Incognita – Contributions of the Olivo-Cerebellar System to Autism Spectrum Disorder. Cerebellum. 2025; 24(4): 93.

The inferior olivary nuclei (ION), a key component of the olivo-cerebellar system, remain understudied in autism spectrum disorder (ASD) research despite evident cerebellar involvement. This perspective piece aims to elucidate the critical role of the ION in cerebellar microcircuitry and its potential implications in ASD pathophysiology. We review the olivo- cerebellar system and the structural and functional alterations of the ION in autism, highlighting findings from neuroanatomical, neuroimaging, and behavioral studies. ION disruptions, although underexplored, may have a major role in the symptomatology of ASD, particularly higher-order cognitive abilities, rapid stimuli processing, and motor coordination. Specifically, we highlight how anomalies in olivary neuron morphology and olivo-cerebellar connectivity patterns may underlie deficits in temporal processing and motor learning observed in ASD. Furthermore, we discuss the challenges in brainstem imaging and recent advancements in ultra-high field (UHF) 7 T MRI technology, as standard neuroimaging techniques. As these neuroimaging techniques continue to evolve, further investigation of the functional territories of the ION holds promise for providing essential understandings into ASD processes and may lead to pioneering therapeutic options targeting this crucial brainstem area.

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9. Teke H, Balci S, Neselioglu S, Teke S, Erel O, Tamer L, Toros F. Oxidative Stress and Dynamic Thiol/Disulfide Homeostasis in Autism: A Focus on Early Childhood. J Mol Neurosci. 2025; 75(2): 62.

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with multifactorial etiopathogenesis, where oxidative stress (OS) has been implicated as a key contributing factor. This study aimed to evaluate the plasma dynamic thiol/disulfide homeostasis (DTDH) parameters-a relatively novel OS biomarker-alongside classical OS biomarkers, including total oxidant status (TOS), total antioxidant status (TAS), oxidative stress index (OSI), glutathione, and glutathione peroxidase (GPx), in preschool children diagnosed with ASD. A total of 49 children with ASD and 31 age- and sex-matched typically developing children between the ages of 2 and 6 years were included. In addition to sociodemographic data collection, the Childhood Autism Rating Scale (CARS) and Clinical Global Impression-Severity Scale (CGI-S) were administered to assess autism severity. Blood samples were analyzed using automated spectrophotometric techniques to determine OS biomarkers. The results demonstrated that DTDH parameters and classical OS markers exhibited parallel changes; however, no statistically significant differences were detected between the ASD and control groups across all OS markers. Furthermore, no significant association was found between OS biomarkers and autism severity. Moreover, we intentionally restricted our sample to a younger age group to enable a focused examination of OS dynamics during early developmental stages. This study underscores the potential impact of age as a critical determinant in OS-related alterations in autism and highlights the need for further age-stratified investigations to elucidate the role of OS in ASD pathophysiology and its potential diagnostic relevance.

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10. Wang HW, Zhao J, Lin Y, Zhang YT, Jiang F. [Relationship between screen exposure behaviors and developmental risks in children aged 3-4 years]. Zhonghua Er Ke Za Zhi. 2025; 63(5): 484-90.

Objective: To investigate the current status of screen exposure among children aged 3-4 years in Shanghai and its relationship with children developmental risks. Methods: A cross-sectional study was conducted, and the stratified cluster random sampling method was used to select 22 102 children of 3-4 years of age across 16 districts in Shanghai in 2023, and their parents were surveyed online. The screen exposure behavior questionnaire (ScreenQ) was used to assess children’s screen exposure behaviors. The Chinese edition early human capability index (eHCI) was used to evaluate whether children were at developmental risk, and the overall characteristics of newly enrolled 3-4 years of age children in Shanghai were calculated by using sampling weights. After controlling for confounding factors, a stepwise Logistic regression model was used to analyze the association between screen exposure behaviors and children’s developmental status (whether at developmental risk). Results: A total of 21 454 children completed the survey, with an age of (3.8±0.3) years, including 11 275 boys (52.6%) and 10 179 girls (47.4%). After weighting, 38.4% of newly enrolled children aged 3-4 years in Shanghai had daily screen time ≥1 h; 55.3% had screen devices in their bedrooms; 40.8% and 62.5% used screens to assist with falling asleep and emotional regulation, respectively; 19.2% of children were frequently exposed to fast-paced screen content (e.g., content with rapid actions or scene changes); 10.4% of parents never discussed or asked questions about content during screen viewing; and 9.2% of parents never discussed screen content or reasons for preferences after screen use. After confirming no multicollinearity among screen exposure behaviors and controlling confounding factors, stepwise Logistic regression analysis revealed that daily screen time ≥1 h (standardized OR=1.98, P<0.001), using screens for emotional regulation (standardized OR=1.59, P<0.001), lack of parent-child interaction after screen use (standardized OR=1.38, P=0.002), presence of screen in children's bedrooms (standardized OR=1.27, P=0.012), and exposure to fast-paced screen media (standardized OR=1.23, P=0.010) were the top 5 influencing factors of children developmental risks. Conclusions: Screen exposure among preschool children is prevalent and significantly associated with developmental risks. Early screen exposure behaviors should be addressed, daily screen time should be strictly controlled, and healthy screen use habits should be established to mitigate their impact on child development.

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11. Ye QY, Zhou BR, Zhang Y, Hu CC, Gu YZ, Li XY, Li HP, Xu Q, Jia FY, Zhang L, Xu X. [Analysis of the intervention effects of skill training for parents with autism child on toddlers with autism spectrum disorder]. Zhonghua Er Ke Za Zhi. 2025; 63(5): 491-7.

Objective: To explore the intervention effects of the skill training for parents with autism child (STPAC) on toddlers with autism spectrum disorder (ASD). Methods: A multicenter non-randomized concurrent controlled study design was conducted. Thirty children with ASD aged 15-30 months, first diagnosed at the Children’s Hospital of Fudan University, the First Hospital of Jilin University, and Chengdu Women’s and Children’s Central Hospital from 2019 to 2020, were enrolled in the STPAC group. Thirty children with ASD who visited the same hospitals during the same period but refused the STPAC intervention were selected as the control group. The STPAC group received an 8-week intervention (3 h/week) followed by quarterly follow-ups for 1 year, while the control group voluntarily chose community-based routine interventions. The Griffiths development scales-Chinese (GDS-C) was used to assess the developmental levels, and the communication and symbolic behavior scales developmental profile infant-toddler checklist (CSBS-DP-ITC) was completed by the primary caregivers to evaluate social, language and symbolic behavior. The independent samples t-tests or Mann-Whitney U tests, etc.was used for inter-group comparison. The paired t-tests or Wilcoxon signed-rank tests, etc. was used for inter-group pre-post intervention comparison. Results: The STPAC group included 30 children (22 males and 8 females, aged (23.9±2.2) months), and the control group included 30 children (20 males and 10 females, aged (24.2±2.6) months). Before the intervention, there were no statistically differences in GDS-C development quotient (DQ) and CSBS-DP-ITC scores between groups (all P>0.05). After 1-year intervention, GDS-C DQ in personal-social, hearing-language, hand-eye coordination, performance domains of STPAC group and GDS-C DQ in personal-social, hearing-language domains of control group were all increased (all P<0.01). After 1-year intervention, CSBS-DP-ITC scores of both groups were all improved in socia, language, symbolic behavior, and total scores (all P<0.001). GDS-C DQ changes before and after 1 year of intervention in hearing-language, hand-eye coordination, performance domains of the STPAC group were all higher the those of control group (34(15, 48 vs. 10(-4, 39), 11±20 vs. -1±19, 23±25 vs. 8±22, all P<0.05). CSBS-DP-ITC scores changes before and after 1 year of intervention in social and total scores of the STPAC group were both higher the those of control group (10(5, 30) vs. 3(1, 7), 26±17 vs. 11±8, both P<0.001). Conclusion: Compared with the community routine interventions, the STPAC better improves the language, hand-eye coordination, visual-spatial, social communication, and play skills in ASD toddlers.

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