Dezvoltare și sprijin pentru sindromul Down.
57 de articoleA 50-year-old female with Down syndrome developed severe bilateral pneumonia caused by cytomegalovirus (CMV), requiring intensive care and mechanical ventilation, which resolved after ganciclovir treatment. This case highlights that CMV-induced pneumonia, rarely reported in Down syndrome patients, can be a life-threatening condition requiring early recognition and prompt antiviral intervention.
This study compared interhemispheric communication efficiency between 11 individuals with Down syndrome and 13 controls using a fingertip cross-localization test. Results showed significantly reduced interhemispheric transfer efficiency in the Down syndrome group, suggesting potential corpus callosum dysfunction that may contribute to cognitive development differences.
This scoping review systematically analyzed existing research on bone growth, development, maintenance, and repair in individuals with Trisomy 21 (Down syndrome), identifying 16 relevant articles. Animal model studies revealed differences in bone development and reduced bone maintenance/repair, with evidence of osteoporotic bone phenotype in both male and female mice, highlighting the need for further understanding of bone health complications in this population.
This clinical study documents a congenital dermatological finding in 39 children with Down syndrome characterized by rough, brownish skin in knee and elbow dimples, confirmed by dermoscopy and biopsy showing hyperkeratosis and papillomatosis. The condition was observed to resolve spontaneously in followed cases and may represent a characteristic skin marker associated with Down syndrome.
This research explores the role of hypothalamic dysfunction as a potential mechanism and biomarker in Alzheimer's disease development among individuals with Down syndrome. The study contributes to understanding neuropathological pathways specific to this population, which shows elevated Alzheimer's risk due to trisomy 21.
Individuals with Down syndrome have significantly elevated risk for early-onset Alzheimer's disease due to trisomy 21-related pathophysiology. Precision medicine approaches aim to tailor interventions based on individual genetic and biochemical profiles to improve outcomes in this high-risk population.
This article addresses reproductive health and fertility outcomes in individuals with Down syndrome. The topic examines the biological and medical factors affecting reproductive capacity in this population.
This research investigates how the APOE4 genetic variant influences Alzheimer's disease neuropathological changes in individuals with Down syndrome. The study provides molecular insights into why individuals with Down syndrome have elevated risk for early-onset Alzheimer's disease.
This research investigates the timing and pattern of cognitive and functional decline across different developmental domains in individuals with Down syndrome. The study identifies age-related deterioration in specific areas, providing important insights for clinical monitoring and intervention planning throughout the lifespan.
Down syndrome patients show significantly elevated prevalence of autoimmune thyroid diseases (Hashimoto's thyroiditis and Graves' disease) compared to age-matched controls without the chromosomal abnormality. These conditions manifest at earlier ages in Down syndrome populations and do not correlate with gender or family history of autoimmune disease.
This research examines the role of mitochondrial dysfunction as a biological mechanism contributing to Alzheimer's disease development in individuals with Down syndrome. The study explores cellular energy production impairment and related pathological processes underlying early-onset dementia in this population.
This study examines patterns and characteristics of music participation among adults with Down syndrome. The research provides insights into how individuals with Down syndrome engage with music as a form of recreation and social activity.
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.
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.