Pubmed du 21/07/25
1. Akomolafe AF, Abdallah BM, Mahmood FR, Elshoeibi AM, Al-Khulaifi AA, Mahmoud E, Dweidri Y, Darwish N, Yousif D, Khalid H, Al-Theyab M, Azeem MW, Shahwar D, Kamal M, Alabdulla M, Khaled SM, Chivese T. Estimates of the prevalence of autism spectrum disorder in the Middle East and North Africa region: A systematic review and Meta-Analysis. BMC Public Health;2025 (Jul 21);25(1):2519.
BACKGROUND: Prevalence estimates for autism spectrum disorder (ASD) in the Middle East and North Africa (MENA) region are not readily available, amid a lack of recent evidence. In this study, we estimated the prevalence of ASD in the MENA region by synthesising evidence from published studies. METHODS: We conducted a systematic review and meta-analysis, searching PubMed, EMBASE, Scopus, and CINAHL for studies assessing ASD prevalence in the MENA region. Risk of bias was assessed using the Newcastle Ottawa scale. A bias-adjusted inverse variance heterogeneity meta-analysis model was used to synthesize prevalence estimates from included studies. Cochran’s Q statistic and the I(2) statistic were used to assess heterogeneity, and publication bias assessed using funnel and Doi plots. RESULTS: Of 3,739 studies identified, 19 met the inclusion criteria, published during the period 2007-2025, from Iran, Oman, Libya, Egypt, Saudi Arabia, Lebanon, United Arab Emirates, Bahrain, and Qatar, Iraq. Country specific prevalence estimates ranged from 0.01% in Oman in 2009 to 6.50% in one study from Iraq in 2024. The overall prevalence of ASD in the MENA region was 0.14% (95%CI 0.02- 0.36%), with significant heterogeneity (I(2) = 99.8%). Overall ASD prevalence was 0.04% (95%CI 0.00-0.13, I(2) = 99.4%) for studies done before 2015 and 0.45% (95%CI 0.17-0.87, I(2) = 99.4%) for studies after 2015. Overall ASD prevalence was high in studies that used the Modified Checklist for Autism in Toddlers (M-CHAT) only [1.66% (95%CI 0.15-4.33, I(2) = 97.5%)] while the overall ASD prevalence was 0.14% (95%CI 0.00-0.46, I(2) = 99.9%) for studies that used the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV) criteria for diagnosis. CONCLUSION: Estimates of the prevalence of ASD vary widely across the MENA region, with variability in ASD prevalence estimates by diagnostic methods and sampling approaches. While the data suggest a possible increase in prevalence during the study period, this observation warrants further investigation through more robust, longitudinal, and methodologically consistent studies. REGISTRATION: PROSPERO registration ID CRD42024499837.
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2. Alsubai S. MDNCT: a multi-domain neurocognitive transformer architecture approach for early prediction of autism spectrum disorders. Sci Rep;2025 (Jul 21);15(1):26378.
Intellectual disability (ID) refers to a disorder involving intelligence and adaptive behavior that meets specific criteria involving deviance from the norm in terms of degree. ID is more common in males than females, and the causes can be genetic or environmental. This population has historically been characterized by significantly decreased life expectancy because they have not been diagnosed and treated for such diseases as cardiovascular and respiratory ones. However, medical progress in the last few years has slightly narrowed this gap, highlighting that understanding ID requires its consideration as a comorbidity to neurodevelopmental and cognitive diseases like Autism Spectrum Disorder (ASD), dementia, or learning disability. Thus, this work proposes the multi-domain NeuroCognitive Transformer (MDNCT) suitable for different prediction tasks on different datasets. Therefore, MDNCT obtains high performance based on the adequate preprocessing level according to the domain data’s specific characteristics, more advanced feature extraction methods, and the use of Transformer-based neural networks. The structure of the framework incorporates common means to align multiple features across modalities and also other state-of-the-art features like multi-head self-attention and residual connections for learning. The use of the MDNCT includes important domains, including early dementia diagnostics for health purposes, social media comments toward learning disabilities, and effective identification of ASD in toddlers.
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3. Amorim K, Vandewouw MM, Huynh N, de Villa K, Safati C, Almonte A, Nicolson R, Kelley E, Crosbie J, Brian J, Anagnostou E, Taylor MJ, Sato J. A transdiagnostic study of theory of mind in children and youth with neurodevelopmental conditions. Mol Autism;2025 (Jul 20);16(1):37.
BACKGROUND: Theory of mind (ToM) is fundamental for social interactions, allowing individuals to appreciate that others have their own mental states. Children and youth with neurodevelopmental conditions (e.g., autism, attention-deficit hyperactivity disorder (ADHD), and obsessive-compulsive disorder (OCD)) often show differences in ToM abilities compared to their neurotypical (NT) peers. Given the phenotypic heterogeneity and overlap associated with these conditions, this motivates a transdiagnostic investigation of ToM across neurodevelopmental conditions. METHODS: Five hundred and fifty-five participants (5-22 years; 193 ADHD, 189 autism, 33 OCD, and 140 NT) were recruited via the Province of Ontario Neurodevelopmental Disorders network. To measure ToM, participants completed the Social Attribution Task (SAT), where participants attribute social stories to videos of moving shapes. The Animation Index (ability to attribute social stories to the videos) and Pertinence Index (how pertinent the attributions are) were calculated from the descriptions. Three analyses were performed: (1) a case-control analysis, comparing the SAT indices amongst the diagnostic groups, (2) a univariate dimensional analysis, examining associations with phenotypic variables (e.g., full-scale IQ, verbal IQ, and social communication difficulties), (3) and a multivariate analysis (partial least squares) that identifies a latent space that describes the associations between the SAT and phenotypic measures. RESULTS: There were no between-group differences in the Animation Index, but the Pertinence Index was significantly lower in autism compared to the other diagnostic categories. Phenotypic variables (full-scale IQ, verbal IQ, and social communication difficulties) were found to be significantly associated with SAT performance across groups, and explained more variance than the diagnostic categories. In the multivariate analysis, the phenotypic variables contributed more strongly to the identified latent component compared to the diagnostic categories. LIMITATIONS: The verbal requirement of the SAT limited the inclusion of non-verbal participants, while the overall cognitive demand limited the participation of those with lower IQs. Additionally, our OCD group was significantly smaller than the other groups, which may have limited our ability to detect OCD-specific effects. CONCLUSIONS: In a large sample, we found that transdiagnostic measures, such as IQ and social communication difficulties, are related to SAT abilities across neurodivergent and neurotypical children and youth and better describe differences in SAT performance compared to the individual diagnostic categories. Although poorer performance on ToM tasks has been classically associated with autism, this study highlights that transdiagnostic, phenotypic variables are a stronger predictor of SAT performance than diagnostic group.
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4. Cording KR, Tu EM, Wang H, Agopyan-Miu A, Bateup HS. Cntnap2 loss drives striatal neuron hyperexcitability and behavioral inflexibility. Elife;2025 (Jul 21);13
Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by two major diagnostic criteria – persistent deficits in social communication and interaction, and the presence of restricted, repetitive patterns of behavior (RRBs). Evidence from both human and animal model studies of ASD suggests that alteration of striatal circuits, which mediate motor learning, action selection, and habit formation, may contribute to the manifestation of RRBs. CNTNAP2 is a syndromic ASD risk gene, and loss of function of Cntnap2 in mice is associated with RRBs. How the loss of Cntnap2 impacts striatal neuron function is largely unknown. In this study, we utilized Cntnap2(-/-) mice to test whether altered striatal neuron activity contributes to aberrant motor behaviors relevant to ASD. We find that Cntnap2(-/-) mice exhibit enhanced cortical drive of direct pathway striatal projection neurons (dSPNs). This enhanced drive is due to increased intrinsic excitability of dSPNs, which make them more responsive to cortical inputs. We find that Cntnap2(-/-) mice exhibit spontaneous repetitive behaviors, increased motor routine learning, perseveration, and cognitive inflexibility. Increased corticostriatal drive may therefore contribute to the acquisition of repetitive, inflexible behaviors in Cntnap2 mice.
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5. Delgado JE, Elison JT, Helwig NE. Robust detection of signed outliers in multivariate data with applications to early identification of risk for autism. Psychol Methods;2025 (Jul 21)
This article proposes an approach for detecting multivariate outliers that combines robust estimation methods with signed detection information. Our method uses the Mahalanobis distance to quantify each observation’s extremeness from the expected value relative to the covariance matrix, and we leverage robust estimation tools, i.e., the minimum covariance determinant, to estimate the mean vector and covariance matrix used in the Mahalanobis distance calculation. Furthermore, we incorporate a signing element into the distance calculation to give researchers greater control over the specific regions of multivariate space that should be prioritized when searching for outliers, which allows for more targeted risk assessment and classification. Lastly, we unify the robust and signed elements into a framework that can be used within bilinear models such as principal components analysis and factor analysis. Using simulated and real data examples, we demonstrate that the proposed approach can result in improved risk assessment and outlier detection, particularly when the sample is contaminated with a moderate-to-large number of outliers that have noteworthy contamination strengths. Overall, our results show that making use of a robust method when assessing multivariate risk leads to more accurate estimates, particularly when combined with relevant signing information. (PsycInfo Database Record (c) 2025 APA, all rights reserved).
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6. do Nascimento Marques L, Murray C, Fortaleza L, Landeira-Fernandez J, Anunciação L. Psychometric Evaluation of Two Adult Autism Screening Tools in Brazil. Autism Res;2025 (Jul 21)
Despite increasing rates of autism spectrum disorder (ASD) in many countries, substantial evidence suggests persistent underdiagnosis of ASD in many low and middle-income countries, such as Brazil. Underdiagnosis or misdiagnosis may be particularly prevalent among women who often present subtler social and behavioral characteristics, engage in camouflaging strategies, and exhibit different symptom expressions compared to men. This study evaluates two new instruments to improve screening for ASD among adults in Brazil: the Screening for Autism in Adults (SfA-A) and the Screening for Autism in Females (SfA-F). A sample of 3302 Brazilian adults (mean age = 37.55 ± 11.34 years) completed the SfA-A, while 7738 Brazilian adult women (mean age = 38.77 ± 10.28 years) completed the SfA-F. Exploratory Structural Equation Modeling was conducted. Reliability was assessed using Cronbach’s alpha, McDonald’s omega, and test-retest. Criterion validity was determined by the AQ-10 and two autism-related questions. Norms were established based on percentiles. Exploratory and confirmatory factor analyses indicated that the SfA-A and SfA-F exhibited strong model fit, high internal consistency (α > 0.8), and initial evidence of criterion-related validity. The SfA-A and SfA-F were developed to address critical gaps in ASD screening among adults in Brazil. These tools hold promise for identifying ASD symptoms and can be used to initiate formal ASD evaluation.
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7. Dumont C, Peri E, Destrebecqz A, Kissine M. To What Extent Can Statistical Learning Explain Language Profiles in Autism? Methodological and Theoretical Challenges. Autism Dev Lang Impair;2025 (Jan-Dec);10:23969415251347878.
BACKGROUND AND AIMS: Language development in autism varies widely, from fluently verbal to minimally verbal individuals, with socio-communicative difficulties often cited as key explanatory factors. Statistical learning (SL)-the ability to detect regularities in language-has also emerged as a potential contributor to language acquisition in autism. However, SL research in autism has predominantly focused on verbally fluent individuals, leaving non- and minimally verbal populations underexplored. This study aimed to examine the predictive roles of joint attention and statistical learning, specifically nonadjacent dependency learning, on expressive vocabulary and morphosyntactic outcomes in autistic children. METHODS: Participants included 40 autistic children aged 5-8 years with diverse linguistic profiles, ranging from verbally fluent to minimally verbal, and 40 non-autistic children. Joint attention was assessed during a semi-structured play protocol, which also provided naturalistic language samples for analysis. Measures of expressive vocabulary and morphosyntax were derived from the number of different words and verb flexions produced, respectively. Sensitivity to nonadjacent dependencies was evaluated through an artificial language learning task. RESULTS: Neither joint attention nor sensitivity to nonadjacent dependencies predicted expressive vocabulary or morphosyntactic skills in autistic children. Response to joint attention scores were significantly lower in autistic children than in non-autistic children but higher than in previous research. This may be due to the less structured and, therefore, more ecologically valid context in which joint attention was assessed (free play), in conjunction with age and maturation factors. Regarding the SL task, both autistic and non-autistic children demonstrated sensitivity to nonadjacent dependencies. Most interestingly perhaps, only 15 autistic children completed the SL task, with non-verbal cognitive abilities significantly predicting task completion. CONCLUSIONS AND IMPLICATIONS: This study highlights the complexity of investigating the role of statistical learning in language development in autism. It underscores the limitations of behavioral SL paradigms for minimally verbal children. Future research should prioritize developing more ecologically valid and accessible paradigms to accurately assess statistical learning in minimally verbal children, thereby clarifying the role SL may play in language acquisition in autism.
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8. Ferziger N, Feldman R, Zivotofsky A. Gaze responses in children with cerebral palsy, cerebral visual impairment, and severe intellectual and developmental disabilities. Dev Med Child Neurol;2025 (Jul 20)
AIM: To identify gaze responses of children with cerebral palsy (CP), cerebral visual impairment (CVI), and severe intellectual and developmental disabilities (IDD) to unimodal and bimodal sensory stimuli. METHOD: Forty children (27 female; mean age 8 years 3 months [range: 3-21 years] with two participants [ages 20 years and 21 years] representing outliers; Gross Motor Function Classification System [GMFCS] level V, Manual Ability Classification System level V, Communication Function Classification System level V) with spastic and dyskinetic CP and severe IDD (20 CVI, 20 no visual impairment) participated in an experimental-observational study. Unimodal (light, auditory, tactile) and bimodal (visual-auditory, visual-tactile) stimuli were presented in a darkened room. Standardized and validated microanalysis of video recordings assessed gaze frequency, duration, and latency. RESULTS: Compared to children with no visual impairment, children with CVI had significantly longer gaze latency to static visual and visual-tactile stimuli (p <0.05) and shorter overall gaze duration (p = 0.005). The CVI group showed sensory enhancement, responding more frequently to bimodal stimuli than unimodal non-visual stimuli (p = 0.014) and with significantly longer gaze duration to bimodal visual-auditory stimuli than unimodal auditory stimuli (p = 0.005). INTERPRETATION: This study provides evidence that bimodal sensory stimulation can enhance visual engagement in children with CP, CVI, and severe IDD. Gaze frequency, duration, and latency are important considerations for interventions and adapting sensory environments.
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9. García-Villamisar D, Álvarez-Couto M, Sáez-Suanes GP. Understanding Mental Health in Autism: A Lifespan Perspective. Brain Sci;2025 (Jul 21);15(7)
Understanding and studying the mental health of people with ASD across the spectrum, from childhood to adulthood, is undoubtedly a pressing need and a challenge […].
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10. Hu XD, Flores LY, Nowell KP. Psychological Well-Being in Autistic College Students: Testing and Extending the Social Cognitive Well-Being Model. J Autism Dev Disord;2025 (Jul 21)
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11. Iwasaki S, Yoshimura Y, Hasegawa C, Tanaka S, Ikeda T, Yaoi K, Hirosawa T, Kikuchi M. Sleep problems and sensory features in children with low-average cognitive abilities and autism spectrum disorder. Sci Rep;2025 (Jul 21);15(1):24509.
Children with Autism Spectrum Disorder (ASD) often have more sleep disturbances than typically developing children. These sleep disturbances have been suggested to be associated with atypical sensory features in children with ASD. Sleep habits have also been linked to intelligence and cognitive function in children. However, it remains unclear whether sleep disturbances in children with ASD are related to intelligence or sensory features. This study examined whether sleep disturbances in children can be explained by the presence or absence of ASD characteristics, sensory features, and cognitive skills. Sleep disturbances and atypical sensory features were determined using the Japanese Sleep Questionnaire for Preschoolers and the Caregiver Sensory Profile, as reported by their caregivers. Cognitive skills were assessed using the Japanese translation of the Kaufman Assessment Battery for Children. Consequently, children with below-average cognitive scores demonstrated that higher sensory scores were associated with poorer sleep quality; children with above-average cognitive scores showed no such patterns. These findings may aid in the development of support for sleep disturbances in various subtypes of ASD.
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12. Kakuszi B, Hetesy S, Czobor P. [Quantitative analysis of autism online forums]. Psychiatr Hung;2025;40(1):49-59.
Social media platforms are becoming increasingly popular for discussing health-related topics. Our research focused on analyzing autism-related posts on the Reddit platform, including the r/autism, r/aspergers, and r/AutismIn – Women subreddits. We employed multiple approaches in our investigation: we conducted word frequency and sentiment analysis, defined symptom-based categories, and explored their interrelations. For the analyses, we used machine learning models in a Python environment, including BERT and DistilRoBERTa. Final statistical analyses were performed using SAS version 9.4. Our findings indicate that the discussions primarily focus on challenges related to emotional regulation, social relationships, and sensory issues. In the textual data analysis, emotional expressions prominently featured fear beyond the neutral category, while expressions of joy were less prevalent. The results of our study highlight the distinctive characteristics of online conversations about autism. These insights can help professionals and healthcare providers better understand the everyday challenges and needs of individuals with autism, enabling them to offer more effective and targeted support.
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13. Koltai BG, Pados E, Rácz J. [Fathers and Their Adult Autistic Sons. An Interpretative Phenomenological Analysis of a Lifelong Experience]. Psychiatr Hung;2025;40(1):32-48.
INTRODUCTION: Autism is a unique pathway of human development, rooted in the atypical development and functioning of the neurocognitive system. Its lifelong nature affects not only the individual but also the lives of family members. Although an increasing number of studies address the experiences of parents raising autistic children, the fathers’ perspective – particularly in the context of adult autistic children – remains underexplored. This study aims to explore the experiences and meaning-making processes of fathers raising autistic children, from early childhood through adulthood. METHODS: This qualitative study involved semi-structured interviews with ten fathers whose sons had been diagnosed with autism spectrum disorder and had reached the age of 18. The interview data were analysed using the method of Interpretative Phenomenological Analysis (IPA). RESULTS: Four main group experiential themes were identified, revealing experiences that deeply influenced participants’ parental roles and identities: (1) Dual control: A revolving cycle around losing and regaining control; (2) Crossing boundaries: accep ting and adapting; (3) Being in the world as a father: experiences of eternality and liminality; and (4) Personal growth through pervading experience. CONCLUSION: Fathers’ experiences were fundamentally shaped by the unpredictability of the future and the lack of systemic support. Our findings may inform the development of support services that are sensitively attuned to the specific needs of fathers raising autistic children.
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14. Kuroda Y, Nagai K, Kawai Y, Naruto T, Saijou H, Morikawa S, Goto T, Sato M, Kurosawa K. Genotype-phenotype correlations and phenotypic expansion in a case series of ReNU syndrome associated with RNU4-2 variants. J Med Genet;2025 (Jul 21);62(8):531-535.
RNU4-2 encodes U4 small nuclear RNA (snRNA), a non-coding RNA forming the spliceosome complex via the U4/U6 snRNA duplex. RNU4-2 heterozygous variants cause ReNU syndrome, which is characterised by intellectual disability, developmental delay, epilepsy, short stature and distinctive dysmorphic features. ReNU syndrome accounts for 0.4-0.5% of all cases of developmental delay, and RNU4-2 variants are located in the T-loop or stem III region of U4 snRNA, of which approximately 80% are the n.64_65insT variant in the T-loop. We identified four Japanese patients (4.3%) with novel and recurrent RNU4-2 variants from 93 individuals of developmental delay with negative results from exome sequencing. Genotype-phenotype correlations were observed in the present case series and a literature review. T-loop variants manifested severe developmental delay with more than 70% of cases being non-verbal. Stem III region variants resulted in milder developmental delay with fluent speech and nearly normal gross motor development milestones. In addition, we report a patient demonstrating intractable epilepsy with neurological regression harbouring a novel de novo heterozygous RNU4-2 variant (n.66A>G). This report expands the phenotypic spectrum of ReNU syndrome and suggests the presence of phenotypic variability related to variant location.
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15. Lee H, Shin Y, Moon H, Choi Y, Lee A. Effects of digital interventions on neuroplasticity and brain function of individuals with developmental disabilities: A systematic review. Internet Interv;2025 (Sep);41:100850.
Developmental disabilities (DDs) impact individuals’ cognitive, psychological, and motor functions, and result in specific neural differences. Interventions to enhance neuroplasticity are important for this population. This review examined relevant existing studies to understand the effects of digital interventions on neuroplasticity and neural functions of individuals with DDs. A systematic review was conducted on PubMed, PsycINFO, CINAHL, and Scopus databases. Studies that focused on digital interventions to enhance neuroplasticity of individuals with DDs and used neuroimaging methods to evaluate effectiveness were included. The results of the current review were synthesized based on Roy’s adaptation model. Of 3433 retrieved studies, 37 were included. The included studies used cognitive training, neuromodulation, and social cognitive training integrated with digital devices such as a computer, mobile app, or virtual reality. Neuroimaging results after digital interventions demonstrated changes in brain wave patterns and increased activation in certain regions. Behavioral assessments exhibited significant improvements including attention- deficit/hyperactivity disorder symptoms, attention, emotional recognition, and social skills. Digital interventions may enhance neural functions and neuroplasticity in individuals with DDs. Further studies with diverse methodologies and a broader spectrum of DDs are essential to fully understand the potential of digital interventions in neurodevelopmental challenges among the population.
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16. Lin YJ, Wu YY, Tsai WC, Chang JC, Shang CY, Gau SS. Developmental changes of visuospatial working memory in autistic children and adolescents. Psychol Med;2025 (Jul 21);55:e202.
BACKGROUND: Limited longitudinal research examining developmental changes in visuospatial working memory (WM) among children and adolescents with autism spectrum disorder (ASD) has prompted our investigation. METHODS: We assessed 123 autistic children and adolescents and 145 typically developing controls (TDC) using the Cambridge Neuropsychological Test Automated Battery at baseline (Time 1 [mean age ± SD]: ASD: 13.04 ± 2.86; TDC: 11.53 ± 2.81) and 2-9 years later (Time 2: ASD: 18.08 ± 3.17; TDC: 16.41 ± 3.09) to measure changes of visuospatial (working) memory over time. The linear mixed model was used to compare the differences between ASD and TDC and estimate the effect of changes over time, age, ASD diagnosis, and interactions of Time×Age×ASD. The overall Age×ASD effect was calculated in the spline regression. RESULTS: Autistic children and adolescents exhibited significantly poorer performance on all spatial tasks and some visual tasks than their TDC counterparts at Time 1 and Time 2, after adjusting for sex, age, attention deficit/hyperactivity disorder (ADHD), and full-scale intelligence quotient. There was an overall improvement from Time 1 to Time 2 across all tasks with significant Age×Time interactions. Significant Age×ASD interactions were observed in the delayed matching to sample, pattern recognition memory (PRM), spatial span (SSP), and spatial working memory (SWM) tasks with no significant Time×ASD interactions. In the quadratic nonlinear model, Age×ASD interactions were significant in PRM and SSP. CONCLUSION: Despite significant improvements during the follow-up period, autistic children and adolescents continue to experience persistent deficits in SWM, with a weaker age-related improvement in visuospatial WM than TDC.
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17. Olsson NC, Björkman JN, Lackell R, Bergens O, Fischer H, Döllinger L, Bergström J, Carlbring P, Laukka P. Feasibility of internet-based multimodal emotion recognition training in adolescents with and without autism: A pilot study. Internet Interv;2025 (Sep);41:100861.
BACKGROUND: Research suggests that individuals with autism spectrum disorder (ASD) have difficulties in emotion recognition (ER), which could lead to social difficulties. ER can be enhanced through targeted interventions, but generalization to everyday functioning poses a challenge. Using dynamic multimodal emotional expressions for training may increase similarities to everyday situations. This pilot study investigated the feasibility of internet-based multimodal emotion recognition training (iMERAT) for adolescents with ASD. METHOD: Eight adolescents with ASD and nine typically developing (TD) adolescents took part in the iMERAT intervention, which included brief online training sessions conducted each weekday during a 3-week period. Training was performed on dynamic facial, vocal and multimodal emotional expressions, with outcome feedback provided after each response. A survey was conducted to explore participants’ experiences of the training. ER was measured pre- and post-training using a multimodal ER test. RESULTS: Participants reported that the training was moderately difficult, instructions were relatively easy to understand, and the duration of training was appropriate. Content analysis of open-ended responses suggested further adaptations, such as providing more explanations of emotions and further tailoring content and language for adolescents. ER increased from pre- to post-intervention, with large effect sizes for both ASD and TD adolescents. CONCLUSION: Results suggest that the iMERAT intervention is feasible for adolescents with ASD. Gains in ER ability were observed, but the small sample size and lack of a control group render these findings tentative. Further research is required to assess the effectiveness of the iMERAT and possible impact on broader social skills.
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18. Pais ML, Sereno J, Tomé VA, Fonseca C, Seco C, Ribeiro I, Martins J, Fortuna A, Abrunhosa A, Pinto L, Castelo-Branco M, Gonçalves J. Sex-specific cortical networks drive social behavior differences in an autism spectrum disorder model. Transl Psychiatry;2025 (Jul 21);15(1):251.
Social behavior is highly sensitive to brain network dysfunction caused by neuropsychiatric conditions like autism spectrum disorders (ASDs). Some studies suggest that autistic females show fewer social skill impairments than autistic males. However, the relationship between sex differences in social behavior and sexually dimorphic brain neurophysiology in ASD remains unclear. We hypothesize that sex-specific changes in cortical neurophysiology drive the sexual dimorphism observed in social behavior for ASD. To test this, we used male and female Tsc2(+/-) mice, a genetic ASD model, to examine cortical neuron morphology, the serotonergic system, E/I balance, structural connectivity, and social behavior. At the cellular level, transgenic males had shorter and less complex cortical basal dendrites, while transgenic females showed the opposite in apical dendrites. Notably, only Tsc2(+/-) females exhibited changes in the serotonergic system and E/I balance, with reduced cortical 5-HT(1A) receptor density and increased excitability. Additionally, activation of these serotonin receptors in transgenic animals correlated with E/I imbalance, highlighting inherent sexual dimorphisms in neuronal connectivity. In parallel, the TSC2 mouse model displayed sex-dependent changes in the structural connectivity of the cortex-amygdala-hippocampus circuit and social behavior: females showed a reduced number of axonal fiber pathways and reduced sociability, while males exhibited a loss of tissue density and deficits in social novelty. Moreover, in our ASD mouse model, better social performance correlated with the cortical serotonergic system. Our findings suggest that sex-dependent alterations in cortical neurophysiology, particularly in the serotonergic system, may contribute to the sexually dimorphic social behaviors observed in ASD.
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19. Qi K, Sun Z, Shi Y, Xiong X, Liu Y, Cai K, Chen A, Białas M. Effects of ball combination training program combined with cTBS intervention on motor disorder in children with autism spectrum disorder. Sci Rep;2025 (Jul 21);15(1):26418.
Purpose In children with Autism Spectrum Disorder (ASD), motor disorders (MD) are a common occurrence, and developing effective interventions continues to be challenging. This study aims to investigate the effects of a 12-week ball combination training program (BCTP) combined with continuous theta burst stimulation (cTBS) on MD in children with ASD. METHODS: The study employed a 4 (cTBS, BCTP, cTBS*BCTP, control group) × 2 (pre-test, post-test) mixed design methodology. 50 participants were allocated to three experimental groups(38) and one control group(12), receiving interventions for a period of 12 weeks. MD were measured using the Movement Assessment Battery for Children – Second Edition (MABC-2). RESULTS: Results indicated that the cTBS*BCTP group significantly improved the overall MABC-2 scores (P < 0.05) and Manual dexterity scores (P < 0.05) in children with ASD, and the BCTP group also significantly improved overall MABC-2 scores. Compared to the control group, the effect size for the cTBS*BCTP group was 1.03 (95% CI: 0.13 to 1.94), showing the best intervention effect, outperforming the BCTP group (effect size: 0.82, 95% CI: -0.09 to 1.72) and the cTBS group (effect size: 0.43, 95% CI: -0.38 to 1.23). CONCLUSION: Overall, the BCTP*cTBS group showed the most significant intervention effects across various dimensions, demonstrating the efficacy of combined interventions in improving MD in children with ASD, confirming that combined interventions are superior to single interventions.
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20. Salmerón Medina M, Blázquez A, Cercos A, Calvo R. Application of White Noise in Minors with Autism Spectrum Disorder. Behav Sci (Basel);2025 (Jul 21);15(7)
Individuals with Autism Spectrum Disorder (ASD) often experience sensory hyperreactivities that interfere with daily life activities. White noise, characterized by its uniformity and its ability to mask environmental sounds, may serve as a tool to improve sensory and emotional regulation in children with ASD. The primary objective was to evaluate the response to white noise in improving self-regulation in minors with ASD. As a secondary objective, the study assessed whether there were differences in the response to white noise between patients with ASD and those with ASD and Intellectual Disability (ID). This study was conducted in the Child and Adolescent Psychiatry and Psychology Department of Hospital Clínic of Barcelona. A total of 54 patients, aged between 7 and 17 years, were included. The patients were divided into two groups: Group 1 consisted of patients diagnosed with ASD (n = 21), and Group 2 included patients diagnosed with ASD and ID (n = 33). White noise was offered to the patients, and their response was evaluated before and after the exposure using the Conners Teacher Rating Scale. Overall, the response to white noise in the sample was positive, with a significant difference in scores on the Conners Teacher Rating Scale (p < 0.001). When dividing the sample into the ASD group and the ASD + ID group, it was observed that the ASD + ID group tolerated white noise better and had a longer exposure time, although both groups showed improved scores on the Conners Teacher Rating Scale. White noise may be a valuable tool to enhance well-being in individuals with ASD, reduce motor restlessness, and increase attention span and emotional stability. However, its effectiveness varies across individuals. It is recommended to tailor its use to individual needs and to extend future research by incorporating physiological measures and larger sample sizes.
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21. Sánchez B, Jordán de Urríes FB, Verdugo M, Abena CJ, Sanblás V. Strategies to Prevent Work Ability Decline and Support Retirement Transition in Workers with Intellectual and Developmental Disabilities. Healthcare (Basel);2025 (Jul 21);13(14)
Background/Objectives: The aging of workers with intellectual and developmental disabilities is an emerging reality attributed to the rise in life expectancy and improved labor market access. In this study, « workers » is used as an inclusive, neutral term covering all individuals engaged in paid labor-whether employees, self-employed, freelancers, or those performing manual or non-manual tasks. It encompasses every form of work. It is crucial to comprehend the reality of aging workers from the perspectives of the primary individuals involved: the workers, their families, and supporting professionals. Methods: A qualitative study was developed, involving 12 focus groups and 107 participants, using NVivo 12 Pro for analysis; we used a phenomenological methodology and grounded theory. Results: A set of concrete needs was highlighted: among them, 33 were related to declining work ability due to aging and disability (WADAD), and 30 to transition to retirement. These needs were grouped into categories: workplace accommodations, coordination and collaboration, personal and family support, counseling and training, and other types of needs. Conclusions: This study establishes an empirical basis tailored to the needs of this group, enabling the development of prevention and intervention protocols that address WADAD and the transition to retirement.
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22. Santhanam SP, Bellon-Harn ML, Kashinath S, Wilson K, VanUitert V, Barnett A. The Speech-Language Pathologist’s Role in Supporting Autistic Students in Postsecondary Education Settings. Am J Speech Lang Pathol;2025 (Jul 21):1-14.
PURPOSE: Navigating the postsecondary landscape is a complex and daunting journey for many autistic students due to widespread misconceptions about autism among nonautistic peers and educators. Additionally, barriers to self-advocacy limit students’ academic and social integration, ultimately compromising their ability to graduate. Despite these challenges, there remains inadequate support for this population with social communication, executive functioning, and self-advocacy. Speech-language pathologists (SLPs) are well positioned to reduce existing barriers and provide support to autistic students and their postsecondary communities in these needed areas. This clinical focus article highlights the pivotal role SLPs could play in establishing personalized supports for autistic college students and describes how SLPs can leverage their unique skills to fulfill this role. METHOD: Drawing from existing literature, clinical expertise, the neurodiversity framework, and lived experiences of autistic college students, we offer guidelines for the indirect and direct supports that SLPs can provide. In addition, we provide a case example and personalized support plan to illustrate the application of direct supports. CONCLUSIONS: Targeted direct and indirect supports are crucial to autistic students’ retention, success, and graduation rates and to building a welcoming postsecondary community. This article emphasizes how SLP supports for autistic college students fall within the scope of practice and how these supports can be operationalized through the concrete examples provided. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.29496335.
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23. Tangviriyapaiboon D, Sirithongthaworn S, Thaineua V, Kanshana S, Sriminipun A, Lersilp S, Panyo K, Changsom K, Panyaphab M, Srikummoon P, Thumronglaohapun S, Sricharoen N, Traisathit P. Study protocol for a multi-centre randomised controlled trial of the Thai early intervention for autism: Assistive Technology for Caregivers (TEI4A-ATC) across nine hospitals in health region 1, northern Thailand. BMJ Open;2025 (Jul 21);15(7):e095359.
INTRODUCTION: The management of autism spectrum disorder (ASD) involves a varied and comprehensive range of support services at various stages of an autistic individual’s life. In Thailand, parents/legal guardians of children with ASD often encounter challenges such as difficulty travelling from rural areas to access support services. The aim of the present study is to investigate the effectiveness of a computer-based intervention programme for caregivers of children with ASD called the Thai Early Intervention for Autism-Assistive Technology for Caregivers (TEI4A-ATC), designed and implemented by a multidisciplinary team. METHOD AND ANALYSIS: 160 children and their caregivers are being recruited. They will be randomised 1:1 into two treatment arms: access to TEI4A-ATC for the intervention group and standard care for the control group. Before enrolment, ASD diagnosis will be conducted using the Thai Diagnostic Autism Scale: children’s ASD scores will be determined using the Thai Autism Treatment Evaluation Checklist for evaluating communication, sociability and sensory/cognitive awareness and the Thai Early Developmental Assessment for Intervention for evaluating motor skills, social interaction, language development and problem-solving. Both assessment tools will be used again after 3 months of treatment. Similarly, the caregivers’ knowledge, attitude and practice (KAP) for ASD care will be assessed using a questionnaire at enrolment and again after treatment. Comparison of the children’s ASD scores and caregivers’ KAP responses between the treatment groups and before and after treatment will be performed based on the intention-to-treat principle. ETHICS AND DISSEMINATION: This study was approved by the Human Research Ethics Committee for Mental Health and Psychiatry, Department of Mental Health, Ministry of Public Health (DMH.IRB.COA 037/2565). Written informed consent will be obtained from the participants prior to enrolment. The study’s findings may be disseminated through scientific publications and conference presentations. The results of the study will be shared with key stakeholders, including caregivers, psychiatrists, policymakers and the general public, via appropriate dissemination channels to aid in creating appropriate practice and policy guidelines. TRIAL REGISTRATION NUMBER: This study was registered with the Thai Clinical Trials Registry (TCTR20240320010) on 20 March 2024.
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24. Tollit MA, Maloof T, Hoq M, Haebich K, Pace CC, Rodriguez ZM, Sial M, Payne JM, Pang K. Corrigendum to « A comparison of gender diversity in transgender young people with and without autistic traits from the Trans 20 cohort study » [The Lancet Regional Health-Western Pacific Volume 47, 2024, 101084]. Lancet Reg Health West Pac;2025 (Jul);60:101631.
[This corrects the article DOI: 10.1016/j.lanwpc.2024.101084.].
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25. Wang HB, Smale NE, Brown SH, Villanueva S, Zhou D, Mulji A, Bhandal DS, Nguyen-Ngo K, Harvey JR, Ghiani CA, Colwell CS. Scheduled feeding improves behavioral outcomes and reduces inflammation in a mouse model of Fragile X syndrome. bioRxiv;2025 (Jul 21)
Fragile X syndrome (FXS), a leading inherited cause of intellectual disability and autism, is frequently accompanied by sleep and circadian rhythm disturbances. In this study, we comprehensively characterized these disruptions and evaluated the therapeutic potential of a circadian-based intervention in the fragile X mental retardation 1 (FMR1) knockout (KO) mouse. The Fmr1 KO mice exhibited fragmented sleep, impaired locomotor rhythmicity, and attenuated behavioral responses to light, linked to an abnormal retinal innervation and reduction of light-evoked neuronal activation in the suprachiasmatic nucleus. Behavioral testing revealed significant deficits in social memory and increased repetitive behaviors in the mutants, which correlated with sleep fragmentation. Remarkably, a scheduled feeding paradigm (6-hour feeding/18-hour fasting) significantly enhanced circadian rhythmicity, consolidated sleep, and improved social deficits and repetitive behaviors in the Fmr1 KO mice. This intervention also normalized the elevated levels of some pro-inflammatory cytokines, including IL-12 and IFN-γ, in the mutants’ blood, suggesting that its benefits extend to inflammatory pathways. These findings highlight the interplay between circadian disruption, behavior, and an inflammatory response in FXS, and provide compelling evidence that time-restricted feeding may serve as a promising non-pharmacological approach for improving core symptoms in neurodevelopmental disorders.
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26. Wang M, Fok M, Kim J, Izaac V, Hornburg CB, Scarpa A, Jeon M, Kim S. Exploring Neurodiverse Collaboration Between Autistic and Non-autistic Adults in an Online Setting: A Pilot Study. Proc Hum Factors Ergon Soc Annu Meet;2024 (Sep);68(1):611-612.
Employment is an important aspect of independent adulthood, yet autistic adults typically face substantial barriers in the labor market, including high rates of un- and under-employment. To promote an inclusive workplace, the present study explored collaboration dynamics between autistic and non-autistic adults as they worked toward shared team goals in an online setting. We recruited nine dyads, including three dyads of non-autistic adults with an autistic adult (NA-AA), and six dyads of non-autistic adults (NA-NA). Our findings demonstrated that neurodiverse collaboration (autistic and non-autistic adults together) could lead to improved task efficiency at the group level and higher perceived team performance in individuals. However, in these collaborative settings, autistic adults reported higher levels of depression, anxiety, and stress compared to their non-autistic partners. Our findings demonstrate the unique contributions that autistic adults may bring into the workplace and highlight the need to develop workplace technologies supporting their collaborative experiences.
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27. Yuge K, Takahashi T, Kawahara Y, Sakai Y, Sato T, Kakuma T, Nishi A, Matsuishi T, Yamashita Y. Attenuated orexinergic signaling underlies sleep-wake problems in a Mecp2-null mouse model of Rett syndrome. Neurobiol Dis;2025 (Jul 18);214:107035.
Rett syndrome (RTT) is a severe neurodevelopmental disorder mainly caused by mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MeCP2). Previous studies reported sleep problems characterized by changes in architecture and sleep-wake patterns in both RTT patients and animal models of RTT. However, little is known about the neural mechanisms underlying the sleep-wake problems in humans or animals. In this study, Mecp2-null mice showed decreased locomotor activity during the dark period of light-dark conditions, but behaviorally showed no significant deficits in the photic regulation of circadian rhythms. Piezoelectric monitoring demonstrated that Mecp2-null mice slept mainly in short bouts and spent less time in long sleep bouts than their wild-type littermates. Electroencephalographic analysis revealed that Mecp2-null mice had very short, frequent periods of sleep during the dark period, indicating frequent state transitions between wakefulness and non-REM sleep during the dark period. Greater numbers of short sleep bouts during the dark period than during the light period could indicate that Mecp2-null mice spent more time napping during their typically active period. MeCP2 deficiency affected the expression of several neuromodulator genes in hypothalamic regions. Specifically, the expression of hypocretin/orexin receptor (Hcrtr) 1 and 2 genes were significantly lower in several brain regions of Mecp2-null mice, and these mice exhibited attenuated hypocretin/orexin receptor signaling in in vivo microdialysis studies of hypocretin/orexin receptor agonist YNT-185. These results indicate disturbance of the hypocretin/orexin system in Mecp2-null mice, which might cause sleep-wake problems such as increased somnolence in the active phase.
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28. Zeraati M, Davoodi A. ASD-GraphNet: A novel graph learning approach for Autism Spectrum Disorder diagnosis using fMRI data. Comput Biol Med;2025 (Jul 21);196(Pt B):110723.
Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition with heterogeneous symptomatology, making accurate diagnosis challenging. Traditional methods rely on subjective behavioral assessments, often overlooking subtle neural biomarkers. This study introduces ASD-GraphNet, a novel graph-based learning framework for diagnosing ASD using functional Magnetic Resonance Imaging (fMRI) data. Leveraging the Autism Brain Imaging Data Exchange (ABIDE) dataset, ASD-GraphNet constructs brain networks based on established atlases (Craddock 200, AAL, and Dosenbach 160) to capture intricate connectivity patterns. The framework employs systematic preprocessing, graph construction, and advanced feature extraction to derive node-level, edge-level, and graph-level metrics. Feature engineering techniques, including Mutual Information-based selection and Principal Component Analysis (PCA), are applied to enhance classification performance. ASD-GraphNet evaluates a range of classifiers, including Logistic Regression, Support Vector Machines, and ensemble methods like XGBoost and LightGBM, achieving an accuracy of 75.25% in distinguishing individuals with ASD from healthy controls. This demonstrates the framework’s potential to provide objective, data-driven diagnostics based solely on resting-state fMRI data. By integrating graph-based learning with neuroimaging and addressing dataset imbalance, ASD-GraphNet offers a scalable and interpretable solution for early ASD detection, paving the way for more reliable interventions. The GitHub repository for this project is available at: https://github.com/AmirDavoodi/ASD-GraphNet.
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29. Zhao S, Wang H, Hou F, Chen Y, Zhu K, Liu R, Xiang Z, Zhang J, Liang X, Li L, Song R. Regulatory roles of rs2192932 and rs10487150 in autism spectrum disorder: insights from fine-mapping and cross-population validation. Hum Mol Genet;2025 (Jul 21)
Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder with increasing global prevalence. GWAS have identified many ASD risk loci, but most are in non-coding regions, and the genetic value of nearby loci remains underexplored. We aim to conduct a fine-mapping analysis of ASD-associated SNPs and validate the signals across ethnic groups, focusing on their regulatory effects on gene expression. Variants within ±500 kb of known ASD loci were selected. Functional annotations were performed using RegulomeDB and CADD. ASD susceptibility genes were obtained from AutDB and SFARI, and screened for validation using 11 high-quality GEO datasets. eQTL analysis was conducted using GTEx database. For Chinese children, a case-control study design was adopted. Biological samples and demographic information were collected from 1244 children between 2010-2024. Extracted DNA was used for ASAMD chip. For European children, GWAS data from 46351 samples were obtained from iPSYCH-PGC-ASD project. 158 ASD susceptibility SNPs with cis-eQTL signals in brain tissue were identified. Notably, rs2192932 and rs10487150 showed consistent associations with ASD in both populations. In additive model, a G to A change at rs2192932 increased ASD risk by 29.5% (OR = 1.295, 95% CI: 1.046-1.605, P = 0.018), while an A to C change at rs10487150 increased risk by 22.7% (OR = 1.227, 95% CI: 1.008-1.495, P = 0.042). Additionally, rs2192932 and rs10487150 may influence ASD onset by regulating SERPINE1 expression. These findings offer new insights into the molecular genetics of ASD and support the potential of genetic markers for risk prediction and early screening.