Dezvoltare și sprijin pentru sindromul Down.
57 de articoleThis 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 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.
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.
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.
This study develops Down syndrome-specific percentile curves for fine motor and visual motor integration skills in children aged birth to 6 years using the PDMS-2 assessment. While fine motor development is delayed compared to typical development, the curves enable clinicians to identify children requiring intervention and help parents understand their child's developmental trajectory.
Researchers developed and validated a 25-item caregiver-reported health measure for individuals with Down syndrome aged 0-21 years, consisting of 3 domains and 7 scales with strong psychometric properties (Cronbach's α: 0.77-0.96, ICC: 0.71-0.94). The measure demonstrated construct validity, test-retest reliability, and ability to differentiate between Down syndrome and autism spectrum disorder in a national sample of 542 caregivers.
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 case report describes the first documented occurrence of intralobar pulmonary pseudosequestration in a female infant with Down syndrome who presented with acute respiratory distress from RSV infection. The authors discuss the likely shared developmental mechanisms between Down syndrome and congenital pulmonary malformations, emphasizing the clinical importance of screening for these conditions in DS patients with recurrent respiratory symptoms.