Modifié le 27/05/2024
Le Fri, 24 Apr 2026 06:00:00 -0400
No abstract
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...
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...
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,...
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.
Le Fri, 24 Apr 2026 06:00:00 -0400
No abstract
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...
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...
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...
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...
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...
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...
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.
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.
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.