Pubmed du 30/06/25

Pubmed du jour

1. Andersen RE, Talukdar M, Sakamoto T, Exposito-Alonso D, Song JHT, Qian X, Lee S, Murugan N, Delgado RN, Zhao S, Eichfeld G, Harms J, Page DC, Walsh CA. Parallel Functional Interrogations of Autism Risk Genes Reveal Drivers of Transcriptomic Convergence and the Female Protective Effect. bioRxiv;2025 (Jun 30)

The surprising number and functional diversity of genes implicated in autism spectrum disorder (ASD) has made it challenging to identify core pathophysiological mechanisms or envision interventions with broad therapeutic potential. Here, parallel CRISPR-Cas13-based knockdown of 28 ASD genes and neighboring long non-coding RNAs reveals striking convergence on shared transcriptomic effects and neurodevelopmental phenotypes in human neural progenitor cells and cerebral organoids. Perturbations of single ASD genes caused the widespread dysregulation of other ASD genes, and de novo reconstruction of gene regulatory networks uncovered the prominent autism risk gene CHD8 as a critical driver of this transcriptomic convergence. The transcriptional activator ZFX, which escapes X chromosome inactivation in females, was also identified as a key regulator of ASD genes, revealing genetic underpinnings of the female protective effect. Thus, this study provides a crucial framework for uncovering how variants in diverse genes can cause convergent pathophysiological effects that ultimately result in a shared diagnosis.

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2. Bernal J, Menze I. Editorial for « Perivascular Space Burden in Children With Autism Spectrum Disorder Correlates With Neurodevelopmental Severity ». J Magn Reson Imaging;2025 (Jun 30)

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3. Esparza Loredo SB, García De la Torre GS, Villanueva Vilchis MDC, Aranda Romo S, Aguilar Díaz FDC. Caregivers’ Knowledge, Attitudes, and Practices in terms of Oral Care Provided to Children with Autism Spectrum Disorder. Healthcare (Basel);2025 (Jun 30);13(13)

Background/Objectives: Children with Autism Spectrum Disorder (ASD) often exhibit similar food-related behaviors, such as excessive sugar consumption, and sensory processing difficulties, which can hinder oral hygiene routines like toothbrushing and increase the risk of cavities or gum problems. Therefore, caregiver involvement in maintaining oral health is crucial. The aim of this study was to assess the knowledge, attitudes, and practices reported by caregivers in terms of oral care provided to children diagnosed with ASD between the ages of 5 and 12 years. Methods: A cross-sectional study was conducted, and the participants comprised 72 caregivers of children with ASD enrolled in four therapeutic centers in SLP, Mexico. Data on caregivers’ knowledge, attitudes, and care in terms of oral health, as well as sociodemographic characteristics, were collected through a structured and self-administered questionnaire. Results: Among the caregivers, 85% were women, and 86% recognized sugar as a cariogenic and gingival bleeding as a sign of inflammation. Despite this, over 60% reported frequent sugar consumption, 65.4% supervised toothbrushing, and floss use was minimal. More than half showed high self-efficacy, which correlated with more frequent supervised or autonomous toothbrushing. Caregivers involved in homecare brushed their children’s teeth more often. Correct knowledge of brushing frequency was associated with actual toothbrushing practices (p < 0.05). Conclusions: This study highlights a notable gap between caregivers' knowledge and oral care practices in terms of children with ASD.

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4. Ghanouni P, Eves L. Evaluation of Emotion Recognition in Individuals With Autism Spectrum Disorder: Recommended Designs for Future Studies. Health Sci Rep;2025 (Jul);8(7):e70969.

BACKGROUND AND AIM: Autism spectrum disorder (ASD) is a lifetime neurodevelopmental condition, which its prevalence is on the rise. Difficulties with emotion recognition and perspective-taking are commonly observed in individuals with ASD, leading to a profound impact on their daily functions. The aim of this document was to offer a reflective perspective on the evolution of research in this area. METHODS: This document evaluates current research approaches. The analysis focused on identifying key trends, gaps, and areas for further investigations. RESULTS: Most studies that examined emotional face recognition in individuals with ASD yielded mixed findings regarding their ability in recognizing specific types of emotions. It may be considered that the heterogeneous population as well as the stimuli or experimental designs in previous studies play pivotal roles in inconsistencies in findings. CONCLUSION: This commentary critically reflects on the previous studies, highlights trends in the current literature, and suggests how assessments can be implemented in future studies.

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5. Hazra S, Gusain S, Goyal N, Daga P. Precision High Definition-Transcranial Direct Current Stimulation (HD-tDCS) for Sensory Perceptual Deficits in Childhood Disintegrative Disorder: A Case Study. J ect;2025 (Jun 30)

High-definition transcranial direct current stimulation (HD-tDCS) offers targeted neuromodulation for neurological disorders. This case study reports its use in a 10-year-old boy with childhood disintegrative disorder and sensory hyposensitivity. After localizing deficits using auditory steady-state response with a Geodesic Transcranial Electrical Neuromodulation system, 20 HD-tDCS sessions were delivered to the left primary auditory cortex over 10 days. After treatment, Autism Treatment Evaluation Checklist scores showed a 66% improvement, with sensory gains in auditory (26%) and proprioceptive (50%) domains, sustained at 1-month, 3-month and 6-month follow-ups. The intervention was well-tolerated with no adverse effects, demonstrating HD-tDCS’s potential as a viable treatment for sensory deficits in childhood disintegrative disorder.

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6. Hinde K, Hald GM, Hallford D, Lange T, Arendt M, Pavan S, Austin D. Interrater reliability of the DSM-5 and ICD-11 Criterion A for PTSD and complex PTSD in parents of children with autism using the Life Events Checklist – ERRATUM. BJPsych Open;2025 (Jun 30);11(4):e138.

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7. Huang X, Zhao W, Feng R, Zhou Y, Wang J, Xiao J, Li L, Shan X, Feng Y, Ming Y, Cao J, Kang X, Wu L, Chen H, Duan X. Linking gut microbiome profiles and white matter integrity to social behavior in young autistic children: from the perspective of individual variation. Sci Bull (Beijing);2025 (Jun 30);70(12):1927-1931.

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8. Hutchison SM, DiazPinzon N, Oberlander TF, Iarocci G. What Is the Impact of Second Language Exposure and Intellectual Disability Status on Executive Function and Functional Communication Outcomes in Children and Adolescents With and Without Autism Spectrum Disorder (ASD)?. Autism Res;2025 (Jun 30)

Over the past 10 years, research has suggested no negative effect on second language exposure in children with autism spectrum disorder (ASD), yet, parents and professionals may be concerned that using a second language with a child with ASD may negatively impact their communication and cognitive skills, especially if the child also has an intellectual disability. In this study, 396 children and adolesents (5-16 years) with and without ASD and with and without second language exposure participated in the study. Parents reported on language exposure and rated executive function (EF) and functional communication (FC) skills using a standardized questionnaire. IQ was directly measured using the WASI-II and children were classified as having an intellectual disability if they had a full-scale score of less than 70. The sample included 18 children with ASD and an intellectual disability (10 without second language exposure, 8 with second language exposure). Results showed that children with ASD and second language exposure had significantly better EF skills and were significantly less likely to have executive dysfunction in the clinical range than children with ASD with no second language exposure. Second language exposure also did not have a negative impact on EF skills in children with ASD even when an intellectual disability was present. For FC skills, we failed to find significant difference between children with ASD with and without second language exposure. For children with ASD and intellectual disability, there was no significant difference on FC skills between children with and without second language exposure. As our sample of children with ASD and intellectual disability was small, additional research with a larger sample is urgently needed.

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9. Kairu A, Dzoro E, Angwenyi V, Newton C, Hanlon C, Hoekstra RA, Abubakar A, Barasa E. Economic evaluation of caregiver interventions for children with developmental disabilities: A scoping review. PLOS Glob Public Health;2025;5(6):e0003928.

Globally, families with children with developmental disabilities (DDs) experience challenges, including social isolation, stigma, and poverty, especially in low-income settings in Africa. Most children with DDs in Africa remain unidentified and receive no formal support. Caregiver interventions focusing on education and training for the carers/parents have been shown to be adaptable and low intensity in implementation, although the economic evidence is limited. This review aimed to describe the evidence and methodological aspects of economic evaluations for caregiver interventions for DDs. The Arksey and O’Malley framework was applied. Seven electronic databases, grey literature and cited references were systematically searched to identify eligible studies. published from 1993 to 2023. We assessed the quality of the included studies using the Drummond checklist. Data were systematically extracted, tabulated, and qualitatively synthesised using inductive thematic analysis. From 7811 articles, twenty studies all in high-income countries were included, and focused on caregiver interventions for autism spectrum disorder (n = 7), attention deficit hyperactivity disorder (ADHD) (n = 6), disruptive behaviour and behaviour problems with ADHD (n = 5), intellectual disabilities (n = 1) and language delay (n = 1). Economic evaluation analyses included cost effectiveness (n = 11), costing (n = 3), cost utility (n = 2), cost consequence (n = 1) cost benefit (n = 1), and combined analyses (n = 2). Nine studies reported the interventions as cost effective and five studies reported the intervention to be cost saving. The main methodological challenges were related to costing, outcome measurement in children and the appropriate time horizon for modelling. Caregiver interventions demonstrate cost-effectiveness, with the available evidence supporting the adoption of the interventions as a promising avenue to strengthen access and reduce the associated healthcare costs. The identified key methodological challenges highlighted further research areas. Prioritizing more economic evaluation studies in this area would inform decision-making on efficient resource allocation, promote inclusivity and equitable access to services for children with DDs.

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10. Ono M, Harada I, Itagaki K, Usami M. Comprehensive multidisciplinary approach in the long-term hospitalization of a child with obsessive – compulsive disorder and autism spectrum disorder: Emphasizing nursing practice. GHM Open;2025 (Jun 30);5(1):62-66.

This article presents the case of a boy diagnosed with both obsessive-compulsive disorder (OCD) and autism spectrum disorder. Long-term hospitalization was required to improve the patient’s OCD symptoms and family relationship. In his last year of compulsory schooling, a multidisciplinary team, led by a nurse, took various approaches to help him self-determine his pathway. In their role of assisting the patient with daily living, the nurses were at risk of becoming involved in his compulsive behavior and developing negative feelings. To support his self-determination, having a mutually supportive environment was essential between the multidisciplinary team and team members, which included discussing his daily living concerns and venting out negative feelings. In this case, ongoing dialog with the medical staff was important for the individual and parents to move forward positively within a supportive framework.

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11. Pal A, Goel F, Sharma A, Garg VK. Oxidative stress and antioxidant therapeutics in autism spectrum disorder: a biochemical and structure-activity relationship perspective. Mol Divers;2025 (Jun 30)

Autism spectrum disorder is a multifaceted neurodevelopmental disorder that involves impaired social interaction, communication challenges, and repetitive behavior. The developing evidence emphasizes a key pathophysiological role for oxidative stress in ASD, which is initiated by an imbalance between ROS generation and antioxidant defense mechanisms. Increased levels of lipid peroxidation, protein oxidation, and DNA damage have been repeatedly found in ASD patients, indicating generalized oxidative damage and mitochondrial impairment. Redox homeostasis disruption is responsible for synaptic dysfunction, neuroinflammation, and disrupted neuronal signaling, worsening the fundamental symptoms of ASD. In this regard, antioxidant therapeutics have attracted a great deal of attention as putative modulators of oxidative stress and neuroinflammation in ASD. Promising candidates such as N-acetylcysteine, glutathione precursors, coenzyme Q10, vitamin E, and polyphenols have been found to be potentially effective against oxidative damage and enhancing behavioral outcomes. The therapeutic potency of such compounds is directly related to their structure-activity relationships, which control their antioxidant activity, bioavailability, and blood-brain barrier permeability. SAR studies have revealed key functional groups, such as thiols, phenolic hydroxyls, and quinone moieties, which increase the free radical scavenging activity and neuroprotective properties of these compounds. In spite of promising preclinical and clinical outcomes, the best dosing, treatment duration, and combinatorial strategies for antioxidant treatments in ASD are poorly characterized. In this review, the biochemical basis of oxidative stress in ASD is examined, the mechanistic understanding of antioxidant-based interventions is assessed, and the structure-activity relationships that dictate their therapeutic value are discussed. Clarifying these molecular complexities will facilitate the development of more potent and targeted antioxidant therapies, bringing new hope for controlling ASD-related oxidative pathologies.

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12. Pope L, Light J, Exton K. Incorporating Visual Scene Display Augmentative and Alternative Communication Supports Into Naturalistic Developmental Behavioral Interventions. Am J Speech Lang Pathol;2025 (Jul 10);34(4):2260-2279.

PURPOSE: Naturalistic developmental behavioral interventions (NDBIs) are a promising approach for supporting early language and communication development for young children on the autism spectrum.(1) However, the children with the greatest need of language supports-those with minimal speech-have limited means to participate within these interventions and are therefore the least likely to benefit from traditional NDBIs that focus primarily on speech production. METHOD: Using a single-case, multiple-probe across participants design, the current study investigated whether adding visual scene display (VSD) augmentative and alternative communication (AAC) supports with just-in-time programming and aided AAC input to NDBI procedures within an interactive storybook reading context resulted in (a) an increase in the number of symbolic communicative turns or (b) an increase in the rate of the number of different unique concepts expressed by young children on the autism spectrum with minimal speech. RESULTS: All participants tended to take more symbolic communicative turns each session and add new expressive vocabulary more rapidly with the addition of VSD AAC supports as compared to NDBI procedures alone, although with notable variation across participants. CONCLUSIONS: The results of this study indicate that including VSD-based aided AAC systems and strategies designed to support beginning communicators within the framework of an NDBI can increase both the communication frequency and expressive vocabulary of children on the autism spectrum with minimal speech, beyond the effects of NDBI procedures alone. SUPPLEMENTAL MATERIAL: https://doi.org/10.23641/asha.29374061.

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13. Potts B, Skelton E, Pavlopoulou G, Karaminis T, Malamateniou C. The A3ReAcH (Autistic, ADHD and AuDHD research accessibility in healthcare) framework: Principles for inclusive healthcare research with autistic, ADHD and AuDHD individuals in radiography and medical radiation technology. J Med Imaging Radiat Sci;2025 (Jun 30);56(5):102009.

BACKGROUND: Autistic, ADHD and AuDHD individuals are often excluded from healthcare/radiography research due to inaccessible methodologies and systemic biases, perpetuating well-documented health inequalities. While researchers can recognise this, they may be unequipped to address it effectively. This narrative review introduces the A3ReAcH (Autistic, ADHD and AuDHD Research Accessibility in Healthcare) framework, which provides practical guidance for designing and conducting accessible, inclusive and participatory research. METHOD: Two searches of peer-reviewed studies (2019-2024) were conducted using Emcare, MEDLINE, Social Policy and Practice, CINAHL, the Psychology and Behavioral Sciences Collection, Google Scholar, and PubMed. The key themes were identified, and a framework was synthesised that aligns with different stages of the research lifecycle (planning to dissemination). RESULTS: The searches retrieved 86 articles: 54 methodological and 32 original research. Key themes are presented as a 12-item framework. The A3ReAcH framework outlines practical strategies such as diversifying research teams, ensuring equitable power-sharing, prioritising participatory methods, and adapting research designs to neurodivergent needs. It also emphasises the importance of accessible recruitment, fair compensation, and inclusive dissemination. Additionally, it highlights the role of intersectionality in shaping neurodivergent experiences and provides recommendations to reduce systemic barriers in research. CONCLUSION: All healthcare/radiography research should include and respect neurodivergent experiences. The A3ReAcH framework empowers researchers to produce more equitable and actionable research by including neurodivergent voices and dismantling barriers to participation. By integrating these principles, healthcare/radiography researchers can improve the participant experience, enhance data quality, and drive systemic change in healthcare/radiography research, moving towards findings that genuinely represent the diversity of the population.

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14. Suzuki Y, Nakamura K, Shimizu T, Asami M, Hara H. Successful left atrial access through GORE CARDIOFORM ASD occluder using an integrated transseptal wire system after failed RF needle approach. J Arrhythm;2025 (Aug);41(4):e70123.

An integrated transseptal wire system enabled successful left atrial access through the elastic resistance posed by a large GORE CARDIOFORM ASD occluder after failed RF needle attempt, allowing large-bore cryoballoon sheath advancement via sequential sheath technique for atrial fibrillation ablation without procedural complications.

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15. Wang M, Liu Y, Zhu T, Huang R, Huang L, Zhang L, Zhang Q, Sun Y, Zhou W, Pu Y, Chen J, He H, Wang S, Chen W, Zhang Q, Luo Q, Ren T, Li F. Parental psychopathology, family conflict, brain function, and child autistic-like traits in early adolescents. Psychol Med;2025 (Jun 30);55:e178.

BACKGROUND: Parental psychopathology is a known risk factor for child autistic-like traits. However, symptom-level associations and underlying mechanisms are poorly understood. METHODS: We utilized network analyses and cross-lagged panel models to investigate the specific parental psychopathology related to child autistic-like traits among 8,571 adolescents (mean age, 9.5 years at baseline), using baseline and 2-year follow-up data from the Adolescent Brain Cognitive Development study. Parental psychopathology was measured by the Adult Self Report, and child autistic-like traits were measured by three methods: the Kiddie Schedule for Affective Disorders and Schizophrenia for DSM-5 autism spectrum disorder (ASD) subscale, the Child Behavior Checklist ASD subscale, and the Social Responsiveness Scale. We also examined the mediating roles of family conflict and children’s functional brain connectivity at baseline. RESULTS: Parental attention-deficit/hyperactivity problems were central symptoms and had a direct and the strongest link with child autistic-like traits in network models using baseline data. In longitudinal analyses, parental attention-deficit/hyperactivity problems at baseline were the only significant symptoms associated with child autistic-like traits at 2-year follow-up (β = 0.014, 95% confidence interval [0.010, 0.018], FDR q = 0.005), even accounting for children’s comorbid behavioral problems. The observed association was significantly mediated by family conflict (proportion mediated = 11.5%, p for indirect effect <0.001) and functional connectivity between the default mode and dorsal attention networks (proportion mediated = 0.7%, p for indirect effect = 0.047). CONCLUSIONS: Parental attention-deficit/hyperactivity problems were associated with elevated autistic-like traits in offspring during adolescence.

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16. Zane E, Luyster RJ. An Autistic « Linguatype »? Neologisms, New Words, and New Insights. Autism Res;2025 (Jun 30)

In this commentary, we present new ideas about autistic neologisms. This essay has two primary goals. First, we argue that an autistic predilection to form neologisms generates intriguing new hypotheses about language in autism, including the possibility that a tendency to use neologisms could be a featural element of an autistic « linguatype » (as in « phenotype »). Second, we suggest that the study of neologism meaning, form, and use can yield insights about a specific speaker and about autistic language, generally. To support both aims, we present the largest collection to date of autistic neologisms. We supply an initial framework for considering and analyzing them, and we apply this framework to some of our collected examples, showing how individual neologisms can offer insights about their creators. Importantly, we suggest that neologism creation may sometimes signify linguistic giftedness, pushing back against traditional notions suggesting autistic neologisms are always evidence of language deficit. We hope this exercise will convince our community that autistic neologisms are deserving of more scientific attention and study. More broadly, by demonstrating the potential value of one feature of autistic language, we aspire to advance collective appreciation for the complexity of autistic language and thought.

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