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A 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 study investigates how altered extracellular matrix composition and increased tissue stiffness in Down syndrome contribute to congenital heart defects, particularly septal defects which occur in 70% of individuals with the condition. Using mouse models and iPSC-derived cardiomyocytes with trisomy 21, researchers found that increased collagen and hyaluronic acid stiffness impairs cardiomyocyte proliferation and sarcomere organization, disrupting normal heart development through mechanotransduction pathways.