Dezvoltare și sprijin pentru sindromul Down.
57 de articoleThis systematic review synthesizes research on how performing cognitive tasks simultaneously affects balance and walking abilities in people with Down syndrome. The study examines evidence-based findings on dual-task interference and its implications for motor control assessment and intervention in this population.
This large German study of 46,362 individuals with Down syndrome found lower overall cancer prevalence compared to matched controls, but significantly elevated risks for hematologic malignancies and testicular cancer, while breast, digestive, and skin cancers were less frequent. Notably, individuals with Down syndrome participated in cancer screening programs at substantially lower rates, highlighting a gap in preventive care access and adherence.
This scientific review synthesizes findings from brain, cerebrospinal fluid, and blood-based proteomic studies to characterize molecular pathways underlying Alzheimer's disease in Down syndrome, with focus on disruption of proteostasis, mitochondrial function, and immune signaling. The analysis positions Down syndrome-associated Alzheimer's disease as a network-level disorder where amyloid and tau pathology interact with immune responses, providing insights applicable to broader Alzheimer's disease biology.
Researchers identified elevated necroptosis markers (RIPK1, RIPK3, MLKL, and lncRNA MEG) in brains of aged Ts65dn mice and post-mortem tissue from Down syndrome subjects, suggesting this controlled cell death pathway may contribute to neuronal loss in DS. These findings propose necroptosis as a potential therapeutic target for developing new treatments in Down syndrome.
A cross-sectional study of 268 pregnant women examined the prevalence of Down syndrome screening using dual and quadruple serum marker tests during weeks 11-22 of gestation. Among 200 screened women (74.63%), 84% showed low-risk results and 16% showed high-risk results, with findings comparable to similar institutional studies.
This editorial addresses endocrine complications commonly associated with Down syndrome, including thyroid dysfunction, metabolic issues, and growth abnormalities. The piece discusses clinical manifestations and management considerations for healthcare providers treating individuals with Down syndrome across the lifespan.
Individuals with Down syndrome experience dysregulation of both innate and adaptive immune systems, resulting in increased susceptibility to autoimmunity and severe infections compared to the general population. Documented immune alterations include elevated cytokine levels, increased interferon signaling, shifts toward memory T-cell phenotypes, and reduced B-cell compartment size, which contribute to both autoinflammatory conditions and heightened infection severity.
A 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 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.