Veille Pubmed

Modifié le 27/05/2024

Genetic variants in Rps4x cause intellectual disability with dysmorphic features, microcephaly, and autism

Le Fri, 24 Apr 2026 06:00:00 -0400

X-linked intellectual disability (XLID) comprises a group of heterogeneous disorders associated with impaired cognitive function and developmental delays. It has been estimated that 10% of the genes on the X-chromosome are associated with at least one form of intellectual disability. To date, genetic variants in 172 genes have been associated with XLID. Clinically, these disorders are highly variable, with some exhibiting multi-system involvement and others limited only to intellectual...

Xerophthalmia and bilateral optic neuropathy secondary to nutritional deficiency in a patient with autism spectrum disorder: Case report and literature review

Le Fri, 24 Apr 2026 06:00:00 -0400

According to the World Health Organization (WHO), chronic vitamin A deficiency is the leading preventable cause of childhood blindness1. Patients with autism spectrum disorder (ASD) represent a high-risk group because they may present eating disorders that lead to severe nutritional deficiencies. We present the case of a pediatric patient diagnosed with ASD who developed xerophthalmia and bilateral optic neuropathy in the context of vitamin A deficiency, associated with vitamin B12 deficiency...

Epigenetic Signatures in Family Clusters: Links Between Male Fertility and Autism Risk

Le Fri, 24 Apr 2026 06:00:00 -0400

Autism spectrum disorder prevalence has increased globally. Emerging evidence implicates paternal genetic and epigenetic factors, particularly sperm DNA methylation alterations, in shaping offspring neurodevelopmental risk. Advanced paternal age is associated with increased de novo mutations and epigenetic changes in germ cells. Recent studies have explored distinct sperm methylation signatures in fathers of autistic children, often involving genes critical for neural signaling, transcription,...

Differences in Prosocial Behaviors of Preschoolers on the Autism Spectrum and Their Non-autistic Peers

Le Fri, 24 Apr 2026 06:00:00 -0400

PURPOSE: Prosocial behaviors (PBs) play a significant role in achieving desired outcomes from childhood through adulthood. This necessitates an in-depth examination in children on the autism spectrum (AS), as potential limitations in this area may pose risks for an individual's entire life. This study aimed to compare PBs of preschoolers on the AS with their non-autistic (NA) peers.

Parent Perspectives on Mobile Health Autism Screeners

Le Fri, 24 Apr 2026 06:00:00 -0400

No abstract

Mitochondrial D-Loop Region Methylation Is Not Altered in Children with Autism Spectrum Disorder

Le Fri, 24 Apr 2026 06:00:00 -0400

Background/Objectives: Although the etiopathogenesis of autism spectrum disorder (ASD) remains incompletely elucidated, current evidence supports a multifactorial model involving genetic and environmental factors that interact to induce a heterogeneous range of symptoms. In recent years, epigenetic mechanisms, particularly DNA methylation, have been recognized as key contributors to ASD pathophysiology. Alterations in mitochondrial DNA (mtDNA) methylation are also emerging as relevant...

The Intersection of Autism and Gender Diversity in the Canadian Clinical Context: Characterizing a Sample of Adults Referred to Canada's Largest Publicly Funded Adult Gender-Care Service: Intersection de l'autisme et de la diversite des identites de genre dans le contexte clinique canadien : Caracterisation d'un echantillon d'adultes orientes vers le plus grand service de soins en matiere d'identite de genre destines aux adultes finance par le secteur public au Canada

Le Fri, 24 Apr 2026 06:00:00 -0400

BackgroundResearch indicates a significant overlap between transgender and gender-diverse (TGD) and autistic identities. This intersectional population has higher risks of mental health challenges and worse mental health outcomes than individuals with just one of the two identities. Limited research focuses on adults at this intersection and their care access needs. To better characterize this population in the Canadian context, this study examines the population referred to Canada's largest...

"Tell Me What My Job Is": A Qualitative Exploration of the Experiences of Autistic Academic Staff Working in Higher Education in Ireland

Le Fri, 24 Apr 2026 06:00:00 -0400

This co-produced study explores the experiences of autistic staff working in higher education in Ireland, a group largely overlooked in existing research. While much attention has been given to autistic students, little research has explored how autistic academics navigate their professional roles. This study investigates the challenges and strengths autistic staff encounter within academic environments. Eleven autistic participants took part in semi-structured interviews, conducted flexibly to...

Exploring Autistic People's Experiences of and Attitudes Towards Cervical Screening: A Mixed-Methods Study

Le Fri, 24 Apr 2026 06:00:00 -0400

Cervical screening can be lifesaving, yet attendance rates are lower than recommended within the general population and even lower within the autistic population. There is currently no published research systematically exploring autistic people's cervical screening experiences. This research aimed to explore the experience of cervical ("smear") screening for autistic people in the United Kingdom. Autistic people (N = 97) completed an online mixed-methods questionnaire about their cervical...

Autistic Traits and Camouflaging: A Meta-Analysis

Le Fri, 24 Apr 2026 06:00:00 -0400

Autistic people sometimes camouflage their behaviour to appear non-autistic. This meta-analysis rigorously tests the relationship between autistic traits and camouflaging, examining contributing person- and study-level variables. Following Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, we searched PubMED, PsycINFO, Web of Science, and ProQuest Dissertations in April 2025. All quantitative designs examining autistic traits and camouflaging on a continuum...

Attention-deficit/hyperactivity disorder and autism spectrum disorder in chronic pain: a study in Japanese pain centers

Le Thu, 23 Apr 2026 06:00:00 -0400

Chronic pain is influenced by physical and psychosocial factors and associated with symptoms of attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD); however, the specific symptom dimension related to pain severity and the underlying psychosocial pathways remain unclear. This cross-sectional screening study included 958 adult patients with persistent chronic pain despite standard care at their initial visit to multidisciplinary pain centers (Japan). Screening...

Testing for Lipid Levels and Diabetes among Autistic Youth who are and are not Prescribed Anti-Psychotics: A Cohort Study

Le Thu, 23 Apr 2026 06:00:00 -0400

CONCLUSIONS: Most autistic youth prescribed anti-psychotics in this cohort underwent some monitoring for hyperlipidemia and diabetes, but not at a level consistent with guidelines. Many autistic youth not prescribed anti-psychotics are not getting testing for hyperlipidemia or diabetes. Providers should consider adding lipid and diabetes testing to other bloodwork, as this was positively associated with monitoring in this analysis.

Traits of autism and attention-deficit/hyperactivity disorder in irritable bowel syndrome with pronounced symptoms

Le Thu, 23 Apr 2026 06:00:00 -0400

CONCLUSIONS: We found that positive screening for ASD and ADHD were both highly prevalent in a cohort of patients with moderate-severe IBS. The patients who screened positive for ASD and/or ADHD presented significant clinical differences compared to those who did not.

Predictors of Autism Spectrum Disorder Among Children With Diagnostic Uncertainty After Initial Developmental-Behavioral Pediatric Evaluation

Le Thu, 23 Apr 2026 06:00:00 -0400

CONCLUSION: Children with ASD diagnostic uncertainty often share similar demographic and clinical features. This study found that family history of non-ASD conditions and child experiences of early adversity are significant factors in differentiating ASD and non-ASD. Child and family factors at point-of-referral may help discern need for an ASD team evaluation including structured observational tools (e.g., ADOS-2) and improve efficiency of assessment planning.

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