Dezvoltare și sprijin pentru sindromul Down.
57 de articoleA survey of 532 parents/caregivers of people with Down syndrome explored attitudes toward potential therapeutic interventions to improve neurocognition and phenotype. Responses revealed tensions between desires to enhance quality of life and concerns about erasing identity and personality, with some rejecting interventions as ableist and promoting the erasure of neurodiversity.
This specialist research examines biomarkers associated with amyloid protein pathology in individuals with Down syndrome, who have elevated risk for early-onset Alzheimer's disease. Understanding these molecular markers may help identify progression and guide early interventions in this population.
This study examines differences in attitudes toward research participation between decision-makers for individuals with Down syndrome and those without the condition. The research explores barriers and facilitators to research engagement in Down syndrome populations versus general populations.
This study examines glial fibrillary acidic protein (GFAP) as a potential biomarker for visuospatial cognitive abilities in individuals with Down syndrome. The research explores the relationship between this neurobiological marker and specific neurocognitive outcomes in this population.
This multicenter study developed and piloted a Down syndrome-specific musculoskeletal screening tool to identify inflammatory arthritis (DA) in individuals with DS, finding a 2% confirmed diagnosis rate among positive screens. The tool is simple and feasible for clinical use, with symptoms of joint swelling, redness, warmth, and stiffness being most predictive of DA.
This retrospective study evaluated surgical outcomes for strabismus correction in 37 Down syndrome patients across esotropia, fourth nerve palsy, and mixed strabismus groups. Overall surgical success rates ranged from 40-86% depending on strabismus type, with 73% of cases achieving correction with a single procedure.
Study examining abnormal high-frequency brain oscillations occurring during sleep in individuals with Down syndrome. Research likely aims to characterize neurophysiological differences and their potential relationship to cognitive and developmental outcomes.
This study examines longitudinal screening approaches and population-level health strategies to enable earlier identification of Alzheimer's disease in individuals with Down syndrome. The research focuses on preventive detection methods and systematic screening protocols for this high-risk population.
This study investigates the relationship between chronic life stress exposure and dementia development in adults with Down syndrome, who have elevated baseline dementia risk. The research explores whether psychosocial stress factors may accelerate cognitive decline in this vulnerable population.
Individuals with Down syndrome have significantly elevated risk for early-onset Alzheimer's disease due to the extra copy of chromosome 21, which contains the amyloid precursor protein gene. This condition represents a major health concern requiring specialized screening, management strategies, and caregiver support in this population.