Pubmed du 06/06/25

Pubmed du jour

1. Al-Dulaimi AA, Rustam T, Jawad M, Kanshina NN, Baldaniya L, Juneja B, Chaudhary K, Sharma S, Uthirapathy S, Abass ZA. Disruption of Embryogenesis Biomarkers: A Critical Issue for Autism Therapeutics. Dev Neurobiol;2025 (Jul);85(3):e22976.

Recent advancements in the field of autism research have led to significant progress in identifying biomarkers associated with autism spectrum disorder (ASD). This article provides a comprehensive update on the current landscape of biomarkers, encompassing genetic, neurobiological, and behavioral indicators. Genetic studies have identified numerous candidate genes and chromosomal abnormalities linked to ASD, highlighting the heritable nature of the disorder. Neuroimaging techniques, including functional magnetic resonance imaging (MRI) and diffusion tensor imaging, have revealed distinct patterns of brain connectivity and structural anomalies that correlate with ASD symptoms. Additionally, electrophysiological measures, such as event-related potentials and electroencephalography, offer insights into the neural mechanisms underlying social cognition and sensory processing in individuals with autism. Emerging research on metabolic and inflammatory biomarkers also shows promise in elucidating the biological pathways involved in ASD. Although these findings provide valuable avenues for early diagnosis and personalized treatment strategies, challenges remain in translating biomarker research into clinical practice. This review emphasizes the need for continued exploration of biomarkers to enhance our understanding of ASD and improve diagnostic accuracy and intervention efficacy for affected individuals.

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2. Alsaedi RH. Relation between executive functioning, sensory processing, and motor performance in children with autism. BMC Pediatr;2025 (Jun 5);25(1):457.

PURPOSE: The neurological model of autism proposes that higher-order processing disturbances underpin the condition’s behavioral features, although emerging evidence attributes these executive functioning issues to lower-order processing disturbances influenced by sensory and motor development. This raises an important question concerning the directionality and development trajectories of neurological disturbances in autism. Hence, this study sought to elucidate the overlapping relations among executive dysfunctions, sensory processing atypicalities, and motor performance disruptions in children with autism. METHODS: Data were collected from 119 children with autism and their parents/guardians, who were recruited from Bahrain, Saudi Arabia, and the United Arab Emirates. The participants’ executive functioning, sensory processing, and motor performance were assessed using standardized computerized neuropsychological tests and parent rating scales. Two models were developed to examine whether the downstream effects of sensory processing disturbances and motor performance delays predict/contribute to the cognitive disruptions observed in the children. RESULTS: The structural equation modeling results revealed there to be significant structural pathways leading from the latent sensory-motor domains to the latent executive functions, which held true for both laboratory and real-world functioning, indicating that sensory-motor issues contribute to more severe disturbances in executive functions. Notably, the model including the motor variable (measured using the BOT-2) was the best predictor of altered executive functioning in everyday and laboratory settings. CONCLUSIONS: The findings of this study indicate the potential of multifaceted and clinically integrated training programs that target both sensory and motor abilities in children with autism to improve their executive functioning. An in-depth understanding of the relations among these parameters may suggest new therapeutic approaches for these children.

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3. Bollard M, Appleby B, Kempson S. Investigating Advanced Practice for People With Intellectual Disability and Autism: A Mixed Methods Study. J Clin Nurs;2025 (Jun 5)

INTRODUCTION: Little is known about the advanced practice contribution health professionals make when working with People with Intellectual Disability and Autism. This paper shares the findings from a study investigating the delivery and impact of two university-led online postgraduate certificates. These programmes specifically focused on preparing health professionals to practice at an advanced level, with people with intellectual disability and autism across the lifespan. AIMS: The aim was to evaluate the opportunities and challenges the programmes provided, reviewing the online delivery capacity and its usefulness for preparing this group of health professionals at an advanced level across two cohorts of learners. METHODS: A concurrent mixed methods approach was adopted, collating descriptive and qualitative data virtually between February 2023 and January 2024. Adults with intellectual disability and autism were involved in the panel deciding the outcome of the research tender, as steering group members and as members of a national workforce advisory panel. No computerised software was used for the data analysis. RESULTS: Observations from minimal descriptive data, virtual focus group, nine one-to-one interviews, text-based and a jam-board data revealed online pedagogical decisions through multi-professional action learning sets. This supported enhanced practice confidence, enquiry-based practice and inter-professional capability. CONCLUSIONS: Policy and decision makers should invest in more advanced practice programmes in this field, as they strengthen the care contribution for people with intellectual disabilities and autism. IMPLICATIONS FOR PRACTICE: Advanced practice learning can raise both practice confidence levels and improve opportunities for evidence-based service change for a group of people with complex needs. REPORTING METHOD: Mixed Methods Reporting in Rehabilitation Health Science.

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4. Erbescu A, Papuc SM, Budișteanu M, Dobre M, Iliescu C, Hinescu ME, Arghir A, Neagu M. Rare Copy Number Variants Intersecting Parkinson’s-associated Genes in a Cohort of children With Autism Spectrum Disorders. Neurosci Insights;2025;20:26331055251334595.

Autism spectrum disorders (ASDs) are neurodevelopmental conditions characterized by important clinical and genetic heterogeneity. Recent studies suggested an overlap between ASD and Parkinson’s disease (PD) in terms of clinical manifestation and underlying genetic defects. Our aim was to assess using a chromosomal microarray assay the frequency of rare exonic deletions that overlap with PD associated genes in a pediatric ASD group. Three hundred and five children diagnosed with ASD were enrolled in a study focused on deep phenotyping and genomic profiling by chromosomal microarrays. In the investigated group, four children with ASD harbored deletions encompassing genes involved in Mendelian forms of PD or contributing to PD risk. Deletions of Parkin RBR E3 ubiquitin protein ligase (PRKN) and synuclein alpha interacting protein (SNCAIP) were found in one patient, each; two other patients showed intragenic deletions of Rab9 effector protein with kelch motifs (RABEPK). Our study found that deletions involving genes associated with PD are rare events, as we identified approximately 1% in the ASD cohort of children. Our data adds to the previous reports of rare genomic imbalances of PD associated genes in ASD, further supporting the hypothesis that these conditions might share molecular mechanisms of pathogenesis.

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5. Geoffray MM, Oreve MJ, Jurek L, Sonie S, Schroder C, Delvenne V, Manificat S, Touzet S, Agathe J, Mengarelli F, Natacha G, Petit N, Speranza M, Bahrami S, Bouveret L, Dochez SL, Auphan P, Zelmar A, Falissard B, Carlier S, Nourredine M, Denis A, Febvey-Combes O. Early Start Denver Model effectiveness in young autistic children: a large multicentric randomised controlled trial in two European countries. BMJ Ment Health;2025 (Jun 5);28(1)

BACKGROUND: Evidence regarding early interventions based on the Naturalistic Developmental Behavioral Interventions framework, such as the Early Start Denver Model (ESDM), suggests efficacy for autistic children. However, the effectiveness of ESDM across diverse cultural contexts remains under-researched. OBJECTIVE: To assess the effectiveness of ESDM compared with treatment as usual (TAU) on overall development in young children with autism spectrum disorder (ASD). METHOD: This parallel, randomised controlled trial, using a modified Zelen design, was conducted in five Child and Adolescent Mental Health Services in France and Belgium. A total of 180 children aged 19-36 months, who met autism criteria and were referred by community professionals, were randomly assigned to either receive 12-hour weekly ESDM+TAU or TAU alone. The primary outcome was the change in developmental quotient (DQ) on the Mullen Scale of Early Learning, assessed blindly from baseline to 24 months post randomisation. FINDINGS: From September 2015 to March 2019, 180 children were randomly assigned to either ESDM+TAU (n=61, girls=21.7%) or TAU alone (n=119, girls=15.4%). Three children dropped out immediately after randomisation. Compared with TAU alone, children in the ESDM+TAU group did not significantly improve global DQ (endpoint mean difference 3.82 (95% CI -1.25 to 8.89), p=0.14). CONCLUSIONS AND CLINICAL IMPLICATIONS: Our findings suggest that ESDM+TAU cannot be universally recommended for young children with ASD. Further research is required to evaluate the long-term effectiveness of ESDM and identify subgroups that may benefit more, thereby guiding optimal implementation strategies. TRIAL REGISTRATION NUMBER: NCT02608333.

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6. Giblon R, Sutradhar R, Hallet J, Hansford R, Kelly C, Coburn N, Shooshtari S, Mahar A. Intellectual and Developmental Disabilities and Cancer Symptom Severity: A Matched Retrospective Cohort Study. Psychooncology;2025 (Jun);34(6):e70199.

BACKGROUND: Individuals with intellectual or developmental disabilities (IDD) face increased cancer risks and disparities in cancer care accessibility and quality. Despite these concerns, there is limited research on cancer symptomology among individuals with IDD. AIMS: This study explored differences in cancer symptoms between individuals with and without IDD. METHODS: We conducted a matched retrospective study of adults in Ontario, Canada, with and without IDD who underwent cancer symptom screening using the Edmonton Symptom Assessment Scale-revised (ESAS-r), a patient-reported outcome measure, within 5 years of a new primary cancer diagnosis. Using administrative health data, we performed 1:1 hard matching of individuals with cancer and IDD to those without IDD on age at diagnosis, sex, diagnosis year, cancer type, and registration at a regional cancer center. Conditional logistic regression models compared odds of moderate to severe and severe cancer symptoms. RESULTS: Among 873 matched pairs, individuals with IDD had higher odds of experiencing severe (vs. moderate, mild, or no) cancer-related symptoms compared to those without IDD. Symptoms included anxiety, depression, drowsiness, pain, shortness of breath, tiredness, and poor well-being. Largest magnitudes of effect were for anxiety (odds ratio; OR: 2.20; 95% confidence intervals, CI: 1.68, 2.89) and depression (OR: 2.16; 95% CI: 1.54, 3.02). Similar trends were observed for moderate to severe cancer symptoms compared to mild or no symptoms. CONCLUSIONS: Patients with both cancer and IDD report higher symptom severity than those without IDD, emphasizing the importance of tailored interventions and support services to address their unique needs and alleviate symptom burden.

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7. Jeong J, Yoo HJ, An JY, Jeong S. Dysregulated RNA Binding Proteins and Alternative Splicing: Emerging Roles in Autism Spectrum Disorder. Mol Cells;2025 (Jun 3):100237.

Dysregulation of gene expression can lead to abnormal brain function, with alternative splicing playing a crucial role in proper brain development. Emerging evidence suggests that dysregulated RNA-binding proteins (RBPs) contribute to aberrant splicing patterns, disrupting neuronal processes and increasing susceptibility to neurodevelopmental disorders such as autism spectrum disorder (ASD). Understanding how misregulated RBPs alter splicing mechanisms is crucial for elucidating their role in ASD pathogenesis. Additionally, this knowledge is essential for developing targeted therapeutic strategies aimed at correcting splicing-related abnormalities. This review highlights recent advancements in our understanding of the interplay between RBPs and alternative splicing in ASD and explores promising RNAtargeting therapeutic approaches.

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8. Kaur R. Interactive social pragmatic intervention and responsive engagement (INSPIRE): An intervention program to facilitate social skills among toddlers with autism. MethodsX;2025 (Jun);14:103352.

Pragmatic skills-how children use language in social situations-begin to develop early in life and are important for toddlers as they learn to communicate their needs, build relationships, and explore their environment. While many toddlers naturally pick up these skills through everyday interactions, there is growing recognition that some may benefit from early support. However, targeted intervention strategies for enhancing pragmatic development in toddlers are still not widely explored. The primary objective of this study was to develop a comprehensive intervention program designed to foster pragmatic skills among toddlers who are diagnosed with Autism. The overall process of development of this program, was conducted in three distinct phases. The first phase focused on creating various illustrative stories along with activities targeting specific pragmatic domains. In the second phase, an expert validation process was carried out, engaging a team of experienced speech-language pathologists, and other professionals along with parents of children with Autism. As a result, the study produced a Toolkit named INSPIRE-Core for toddlers between 1 and 3 years. The third phase focused on standardization of this toolkit by parental implementation of this program on 50 children with specific inclusion and exclusion criteria, within home environments. Overall, the study demonstrated that the intervention program served as an effective and structured resource for parents, supporting systematic planning and implementation of pragmatic language interventions.•A three-phase design was employed to systematically develop and validate the intervention program, targeting pragmatic skills in children with language delays.•Expert validation ensured the program’s robustness, involving speech-language pathologists, other professionals and parents of children with autism.•Standardization was achieved through implementation on a stratified sample of 50 children with autism, categorized by language age and trained within home environments.

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9. Lee JH, Park YM, Han K, Park YB, Kim BS, Jung JH, Nam GE. Intellectual developmental disability and all-cause and cause-specific mortality among individuals with type 2 diabetes mellitus. Diabetes Res Clin Pract;2025 (Jun 3);226:112305.

AIMS: Individuals with intellectual developmental disabilities (IDD) face unique challenges in managing type 2 diabetes mellitus (T2DM), but evidence on their impact on mortality is limited. This study assessed the association between IDD and mortality in T2DM using nationwide Korean data. METHODS: A retrospective cohort of 2,522,244 individuals with T2DM who underwent health screenings through the Korea National Health Insurance Service 2015-2016 was analyzed. IDD presence and severity were evaluated, and mortality risks were estimated using multivariable Cox proportional hazards models. RESULTS: Among a total population, 0.22 % (n = 5,627) had IDD. Over a six-year median follow-up, 201,153 deaths (7.98 %) occurred. Individuals with IDD had significantly higher risk of all-cause mortality (hazard ratio [HR] 3.40, 95 % CI: 3.14-3.68), with greater severity correlating with higher risk (P < 0.001). Cause-specific mortality risks were significantly elevated for cardiovascular (HR 3.77, 95 % CI: 3.12-4.55), cancer (HR 1.52, 95 % CI: 1.24-1.86), and respiratory diseases (HR 7.71, 95 % CI: 6.27-9.48). Younger individuals showed stronger associations. CONCLUSIONS: Individuals with T2DM and IDD, particularly those with severe IDD, have a significantly higher mortality risk. Tailored healthcare strategies and enhanced social support are urgently required to reduce disparities in this vulnerable population.

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10. Li Z, Wang B, Yang L, Niu Y, Luo Q, Zhao S. Structure-function connectomics reveals aberrant left hemispheric developmental trajectory in autism spectrum disorder. Cereb Cortex;2025 (Jun 4);35(6)

Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by structural and functional brain differences relative to typically developing individuals. Although previous work has identified abnormalities in rich-club (RC) organization and left-right asymmetry in ASD, the developmental trajectory of these anomalies remains unclear. In this study, we examined how age influences structure-function coupling and structural proportions in RC networks using data from 140 participants (aged 5-26 years) drawn from ABIDE II. Our findings revealed significant, age-related differences in the left hemisphere of ASD participants compared to controls, with the RC network predominantly localized in this region. Furthermore, an interaction effect in local RC organization-though not in global RC or feeder connections-was observed between diagnostic groups and brain lateralization. Notably, rightward lateralization in local RC networks increased with age in ASD individuals, whereas it decreased with age in controls. These results underscore an atypical, age-dependent pattern of hemispheric asymmetry in ASD and offer new insights into abnormal neurodevelopmental trajectories within RC organization.

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11. Pal A, Goel F, Garg VK. Zebrafish as a tool for autism research: unraveling the roles of Shank3, Cntnap2, Neuroligin3, and Arid1b in synaptic and behavioral abnormalities. Neurogenetics;2025 (Jun 6);26(1):48.

Autism Spectrum Disorder, a complex neurodevelopmental disorder, is manifested by deficits in social communication and restricted, repetitive patterns of behavior, interests, or activities. Its molecular mechanism of pathology is not that much understood, though various genetic mutations have been established in its causation. The most important genes are Shank3, Cntnap2, Neuroligin3, and Arid1b. Recently, zebrafish (Danio rerio) have emerged as a highly valuable model organism to study these genetic contributions to ASD, given their genetic tractability, transparent embryos, and ease of behavioral assessment. This review discusses the models of zebrafish used to examine the roles of Shank3, Cntnap2, Neuroligin3, and Arid1b in synaptic function, neuronal connectivity, and behavioral abnormalities characteristic of ASD. We discuss the molecular pathways affected by mutations in these genes, including synapse formation, excitatory/inhibitory balance, and neuronal signaling, which lead to the neurodevelopmental impairments observed in ASD. We have also highlighted the various behavioral assays in zebrafish, such as social interaction tests, sensory processing assays, and repetitive behavior measurements, which are used to study ASD-like phenotypes. The unique advantages of zebrafish include high-throughput potential, the ability to monitor real-time neuronal activity, and the ease with which genetic manipulations can be done. The review focuses on the advancement of zebrafish in understanding ASD and their potential for rising targeted interventions to address core symptoms of the disorder.

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12. Pastore SF, Xie CTY, Derwish R, Muhammad T, Blahova T, El-Masri SC, Frankland PW, Hamel PA, Vincent JB. Autism-Associated PTCHD1 Missense Variants Bind to the SNARE-Associated Protein SNAPIN but Exhibit Impaired Subcellular Trafficking. Biol Psychiatry Glob Open Sci;2025 (Jul);5(4):100492.

BACKGROUND: PTCHD1 is a susceptibility gene for autism spectrum disorder and intellectual disability. Its function in brain development and neurotransmission remains elusive. Studies have sought to characterize PTCHD1 function by elucidating its neural network of interacting proteins. However, given the current paucity of functional information, many PTCHD1 missense variants in clinical databases are classified as variants of uncertain significance (VUSs), severely limiting the health care resources available to patients and families. METHODS: A yeast 2-hybrid assay was used to identify synaptic PTCHD1-interacting proteins. Candidate binding partners were validated by cloning; transient overexpression in human embryonic kidney (HEK) 293T cells, followed by co-immunoprecipitation and immunoblotting; and immunocytochemistry in differentiated P19 cells. Site-directed mutagenesis was used to evaluate the pathogenicity of clinical missense variants, followed by transient overexpression and immunocytochemistry in non-neuronal (HEK293T) and neuronal (Neuro-2a cells) systems. RESULTS: A novel interaction was identified between the first lumenal loop of PTCHD1 and the SNARE-associated protein SNAPIN, which is implicated in synaptic vesicle exocytosis. Clinically associated missense variants within this region did not disrupt SNAPIN binding, indicating that the pathoetiology of these variants is unrelated to this interaction. However, 6 of the 12 missense variants tested exhibited pronounced retention within the endoplasmic reticulum and impaired neuronal and non-neuronal trafficking to the plasma membrane. CONCLUSIONS: These data yield insights into the role of PTCHD1 in neurodevelopment and neurotransmission and suggest a neuropathological mechanism for missense variants. These findings provide a platform for diagnostic assay and VUS interpretation, allowing for clinical reclassification of these variants. Loss-of-function variants in the X-linked PTCHD1 gene result in autism spectrum disorder and/or intellectual disability in males. However, missense variants in PTCHD1 are typically reported as variants of uncertain significance by diagnostic laboratories, in part due to the limited understanding of PTCHD1 protein function and the lack of a functional assay. Pastore et al. (article#) identify the SNARE-associated protein SNAPIN as a candidate protein interacting partner for PTCHD1 through PTCHD1 external loop 1. However, clinically reported missense variants in loop 1 do not impact the protein-protein interaction. Of 12 PTCHD1 missense variants tested, 6 exhibited pronounced retention within the endoplasmic reticulum and impaired neuronal and non-neuronal trafficking to the plasma membrane, suggesting a putative (and assayable) neuropathological mechanism. eng

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13. Patwardhan A, Choe KY. The social salience network hypothesis of autism: Disrupted network activity, oxytocin signaling, and implications for social symptoms. Prog Neurobiol;2025 (Jun 6);251:102787.

Autism Spectrum Disorder (ASD) is a complex condition characterized by its heterogeneity, with significant variability in symptoms across subtypes and associated comorbidities. Despite the urgent need to develop mechanism-based therapies for the core social symptoms of ASD, progress has been hindered by the heterogeneous etiology of this neurodevelopmental disorder and our still limited understanding of the neural mechanisms underlying social behavior. The evaluation of sociosensory cues and the modulation of motivation to engage socially are fundamental components of social interaction, thought to be coordinated by a network of interconnected brain regions called the social salience network (SSN). This network is strongly modulated by the neurohormone oxytocin (OXT) to facilitate appropriate social responses. It is increasingly recognized that disruptions within the SSN contribute to the atypical social perception and engagement observed in autistic individuals. This review will summarize evidence from current clinical and preclinical literature that provides compelling evidence for SSN disruptions as a possible mechanism that underlies the social symptoms of ASD. Furthermore, we discuss OXT-mediated correction of SSN disruptions at the regional and circuit levels that rescues social phenotypes in preclinical models of ASD-risk factors. These molecular, cellular, and circuit mechanisms within the SSN could serve as promising treatment targets which may propel the development of novel and effective options for alleviating the social difficulties of autistic individuals.

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14. Siqueiros J, Holloway K, Lin ML, Neely L, Cordova A, Land W, Oyama S, Park SW. Influence of loud auditory noise on postural stability in autistic children: an exploratory study. Sci Rep;2025 (Jun 6);15(1):19882.

Autistic children often experience sensory processing challenges and postural instability. While auditory noise has been reported to improve balance in various populations, its effects in autistic children remain unclear. This study examined whether auditory noise could similarly influence balance in this population. Sixteen autistic and sixteen typically developing (TD) children aged 6-12 years performed a tandem stance task with and without auditory noise. Postural stability was assessed via stance duration and center of pressure (CoP) velocity. Sensory processing difficulties were evaluated using a parent-report questionnaire. Autistic children stood longer in the presence of auditory noise, while all TD children reached the maximum duration regardless of condition. A reduction in CoP velocity with auditory noise was observed across both groups. Although postural stability was correlated with sensory processing difficulties, the effect of auditory noise was not. These findings suggest that the beneficial effect of auditory noise on postural stability is applicable to autistic children, regardless of individual sensory processing profiles. This exploratory study highlights the potential of sensory-based interventions to support postural control in autism. Future research with larger samples is needed to confirm these findings and to identify the auditory stimulus characteristics that most effectively improve balance in autistic individuals.

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15. Terada K, Imaizumi T, Ueda K, Nishikawa N, Yoshida H, Taki Y, Fujii S, Li L, Komori M, Kato K, Kumazaki H. Visual feature analysis on selective appetite in individuals with autism spectrum disorders. PLoS One;2025;20(6):e0325416.

BACKGROUND: Individuals with autism spectrum disorders (ASD) experience more severe selective eating problems than their neurotypical peers. Identifying the causes of selective eating behavior poses a considerable challenge, even for caregivers. Accurate identification of the underlying causes of this behavior is essential for developing interventions aimed at overcoming dysfunctional, unbalanced diets. However, studies that meticulously identify the causes of selective eating behaviors are scarce. This investigation aims to explore the differences in preferences for sunny-side-up eggs between individuals with ASD and those with typical development (TD), focusing on the factors influencing their likes and dislikes through a systematic analysis of visual features. METHOD: Thirty-nine individuals with ASD (mean age, 23.4 ± 4.7 years; 82% men) and fifty individuals with TD (mean age, 22.2 ± 1.3 years; 64% men) participated in this study. We used a total of 50 images of sunny-side-up eggs as visual stimuli. Using Non-negative Matrix Factorization and Decision Tree analysis, factors associated with visual preferences for sunny-side-up eggs were identified. DATA AND RESULTS: We could identify factors associated with visual preferences for sunny-side-up eggs. Subsequent linear regression analysis provided insight into how these visual features delineate preference boundaries between liked and disliked foods, with noteworthy distinctions emerging between the ASD and TD groups. CONCLUSIONS: This study provides novel insights into the visual determinants of food preferences in individuals with ASD through systematic analysis of image features. Our findings indicated the potential to predict preferences while elucidating the causes of selective eating behaviors, thereby offering solutions for individuals with ASD.

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16. Wachtel LE, Ghaziuddin N. Dire Need and Disproportionate Access: ECT In Youth With Autism Spectrum Disorders and Other Neurodevelopmental Disorders. J ect;2025 (Jun 2)

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17. Wang F, Liu Z, Hu J, Cheng Z, Liu S, Tian W, Zhang Y, Yang L, Liu T, Sun C, Zou M. Activation of CB1R alleviates autism spectrum disorder-like behavior and synaptic impairments. Life Sci;2025 (Jun 6);377:123797.

We previously found that enhancing the levels of 2-arachidonoylglycerol (2-AG) and anandamide (AEA) could improve autism spectrum disorder (ASD) symptoms. This study investigated the effect of cannabinoid type 1 receptor (CB1R) in ASD with pharmacological, genetic and brain-targeted intervention and the underlying mechanisms. Results showed that blocking CB1R counteracted the beneficial effects of boosting 2-AG or AEA on ASD-like behaviors in valproic acid (VPA)-exposed mice. Besides, CB1R knockout mice exhibited ASD-like behaviors and synaptic deficits. In CB1R-specific brain-targeted regulation, activating CB1R ameliorated synaptic dysfunction, including neuronal complexity, spine density, dendritic integrity, synaptic protein expression, and neuronal damage. Moreover, activating CB1R enhanced the expression and current density of Kir4.1, indicating that CB1R may influence synaptic activity by modulating Kir4.1. Collectively, our findings indicated a critical role for CB1R in the improvement of ASD-like behavior and synaptic dysfunction, which may offer promising avenues for developing effective treatments for ASD.

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18. Wen L, Wu Z. The impact of sensory integration based sports training on motor and social skill development in children with autism spectrum disorder. Sci Rep;2025 (Jun 6);15(1):19974.

Children with Autism Spectrum Disorder (ASD) often experience deficits in motor coordination, sensory processing, and social interaction, which hinder their participation in physical activities. While sensory integration-based interventions have shown promise, the specific impact of structured sports training incorporating sensory principles remains underexplored. This study evaluated the effects of a 12-week sensory integration-based sports training program on motor and social outcomes in children with ASD. Forty participants, aged 6-12, were randomly assigned to either an experimental group receiving sensory integration-based sports training or a control group engaged in standard physical activity. Motor coordination was assessed using the Bruininks-Oseretsky Test of Motor Proficiency (BOT-2), and social responsiveness was measured using the Social Responsiveness Scale (SRS-2). Weekly behavioral engagement was also recorded. Data were analyzed using paired t-tests and Cohen’s d for effect size. Participants in the intervention group demonstrated a significant 17.2-point increase in BOT-2 scores, reflecting improved motor coordination. SRS-2 scores decreased by 13.2 points, indicating enhanced social responsiveness. Participation rates in structured activities increased from 45 to 85% over the 12 weeks. Statistical analysis revealed a large effect size (Cohen’s d > 0.8) for both outcomes. Sensory integration-based sports training significantly improves motor and social functioning in children with ASD and offers a promising approach for therapeutic and educational rehabilitation programs.

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19. Zeng Q, Hu Y, Xie L, Zhang X, Huang Y, Ye J, Wang S, Xu J. Gut microbiota diversity and composition in children with autism spectrum disorder: associations with symptom severity. PeerJ;2025;13:e19528.

BACKGROUND: Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder impairing social and communication skills. Gut microbiota has become key in understanding ASD pathophysiology. However, the relationship between the ASD symptoms and alternation of gut microbiota still remains unknow. We hypothesize that the composition of gut microbiota in children with ASD may be strongly associated with the severity of their symptoms. METHODS: Here, fecal samples from children (divided in to three groups: neurotypical, severe ASD and mild ASD) at a hospital were collected. The symptoms of ASD were assessed by an experienced pediatric neurologist, and the severity of the symptoms in children with ASD was determined based on the assessment scores. Then the diversity and composition of gut microbiota were detected by high-throughput sequencing. RESULTS: In total, 2,021 amplicon sequence variants (ASVs) were obtained from 46 fecal samples, with highest in the neurotypical group. Alpha diversity in bacteria differed between severe and mild ASD. Microbiota health and dysbiosis indices varied with ASD severity. Beta diversity indicated that severe ASD differed from others, and mild ASD was closer to neurotypical in community structure. At the phylum level, Firmicutes was the dominant bacteria but abundances differed in different groups, and Ascomycota increased in severe ASD fungi. At the genus level, groups had distinct dominants, and mild ASD microbiota resembled that of neurotypical children. Function prediction revealed differences in bacteria and fungi, with severe ASD having higher amino acid metabolism, lower cofactor/vitamin metabolism, and more undefined saprotrophs. CONCLUSION: This study revealed gut microbiota differences between ASD children (varying symptoms) and neurotypical ones, showing milder ASD closer in microbiota aspects. It offers insights for exploring ASD pathogenesis and devising interventions.

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