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Sindrom Down

Dezvoltare și sprijin pentru sindromul Down.

57 de articole
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StudiuSindrom DownÎncredere bună29.06.2026

Emerging adults' emotional responses toward siblings with Down syndrome: The role of support, optimism, and sense of coherence

This study examined 292 emerging adult siblings (ages 18-27) of individuals with Down syndrome to identify factors influencing their emotional responses toward their affected sibling. Higher social support and optimism predicted more positive emotions, while stronger sense of coherence was associated with fewer negative emotions; sibling functionality and religious affiliation also moderated these relationships.

StudiuSindrom DownÎncredere înaltă27.06.2026

Extracellular Matrix Defects Destabilize Apical Cytoarchitecture and Mechanical Properties During Early Down Syndrome Neurodevelopment

This study uses cerebellar organoids and neural cultures to show that trisomy 21 causes extracellular matrix alterations that impair apical progenitor cell organization and reduce RAB11+ endosomes, leading to disrupted neural stem cell integrity. Supplementing cultures with extracellular matrix partially rescues these defects, demonstrating a functional role for ECM in maintaining proper apical organization during Down syndrome brain development.

StudiuSindrom DownÎncredere bună27.06.2026

Vaccine Response Assessment in Children With Down Syndrome: A Case Report of Improved Outcomes With Enhanced Immunization Strategy

Children with Down syndrome may have altered immune responses to routine vaccinations despite complete immunization records, resulting in inadequate protection against infections. This case describes a 5-year-old with Down syndrome who experienced recurrent respiratory infections despite adherence to standard vaccination schedules; additional pneumococcal vaccination led to notable clinical improvement, suggesting the value of immunology consultation and individualized vaccine response monitoring in this population.

StudiuSindrom DownÎncredere înaltă27.06.2026

Cancer Frequencies and Screening in Individuals With Down Syndrome: A Comprehensive Nationwide Cross-Sectional Analysis

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.

StudiuSindrom DownÎncredere înaltă27.06.2026

Multiomics and proteomic insights into Alzheimer's disease biology in Down syndrome

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.

StudiuSindrom DownÎncredere bună27.06.2026

Necroptosis in Down Syndrome: Evidence from Animal Models and Human Brain Tissue

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.

StudiuSindrom DownÎncredere înaltă23.06.2026

Social Cognition Development in Children and Adolescents With Down Syndrome: A Scoping Review

This systematic scoping review of 40 peer-reviewed studies (2008-2024) examined social cognition development in children and adolescents with Down syndrome, finding that language is the primary factor influencing social cognitive development rather than age alone. Individuals with Down syndrome demonstrate challenges in social cognition and emotion processing compared to typical development, with the review calling for more longitudinal research to clarify developmental trajectories and inform educational and clinical interventions.

StudiuSindrom DownÎncredere înaltă22.06.2026

Functional Fitness Decline in Adults with Down Syndrome: A 12-Year Longitudinal Study

This longitudinal study tracked functional fitness changes in 66 adults with Down syndrome over 12 years, finding significant deterioration in static balance, shoulder flexibility, trunk strength, and aerobic capacity for both men and women. Results suggest that adults with Down syndrome experience accelerated aging in physical fitness, indicating the need for timely physical activity interventions.

StudiuSindrom DownÎncredere înaltă22.06.2026

Ophthalmologic and neuro-ophthalmologic findings in children with Down syndrome

Children with Down syndrome (Trisomy 21) commonly present with various ocular complications including strabismus, nystagmus, refractive errors, congenital cataracts, keratoconus, and reduced visual acuity. Early ophthalmic examination and prompt intervention are essential for diagnosis and management of these vision-related manifestations.

StudiuSindrom DownÎncredere înaltă22.06.2026

Editorial: Endocrine dysfunction in patients with Down syndrome

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.

StudiuSindrom DownÎncredere înaltă22.06.2026

The Immune System in Down Syndrome: Autoimmunity and Severe Infections

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.

StudiuSindrom DownÎncredere bună22.06.2026

Hyperphagia and Down Syndrome: A Case Report of Excessive Appetite and Behavioral Management

A 14-year-old boy with Down syndrome developed severe hyperphagia between ages 10-12, with BMI increasing significantly despite adequate nutrition, accompanied by compulsive eating patterns and food-related behavioral aggression. Treatment involved evidence-based behavioral interventions including token economy systems, structured meal scheduling, coping skills training, and communication supports to address eating behaviors.

StudiuSindrom DownÎncredere înaltă22.06.2026

Balance and Gait: Associations With Cognitive Impairment and Dementia in Individuals With Down Syndrome

This study of 66 adults with Down syndrome found that lower gait performance scores on the Performance-Oriented Mobility Assessment independently predicted prodromal dementia and dementia risk. Higher BMI and gait dysfunction were both significant predictors of cognitive decline, suggesting mobility assessment may be useful in monitoring dementia progression in this population.

StudiuSindrom DownÎncredere bună22.06.2026

Insights into Children with Down Syndrome: A Medical Student's Perspective

Down syndrome is the most common chromosomal abnormality causing intellectual disability in liveborn infants, but children with appropriate medical care and support can achieve fulfilling lives and reach their potential. The article advocates for increased awareness of Down syndrome's genetic causes, associated health conditions, and developmental delays through experience-based learning at a care facility.