Autentificare
NeuroPsy InfoHubÎnțelege · Sprijin · ProgresCere sprijin
← Toate temele

Sindrom Down

Dezvoltare și sprijin pentru sindromul Down.

57 de articole
← Toate secțiunile

Studii și știri

PublicToțiPentru oricineSpecialiști
VârstăToate vârsteleCopiiTineriAdulțiVârstnici
StudiuSindrom DownÎncredere înaltă19.06.2026

Converging signalling disruptions: a threshold for Down syndrome hearts

This research explores why approximately 50% of children with Down syndrome develop heart defects by examining how multiple chromosome 21 genes, particularly the chromatin regulator HMGB1, collectively disrupt several critical developmental signaling pathways (BMP, Wnt, Notch, and calcineurin-NFAT). The authors propose a convergent threshold model suggesting that cumulative disruption of these pathways exceeds a critical level necessary for normal cardiac development.

StudiuSindrom DownÎncredere înaltă19.06.2026

Down Syndrome: Genetic Basis, Clinical Features, and Lifespan Health Management

Down syndrome (trisomy 21) is the most common viable autosomal trisomy and leading genetic cause of intellectual disability, characterized by distinctive physical features and neurodevelopmental differences with variable multi-system involvement. Individuals with Down syndrome face heightened lifelong health risks including congenital heart disease, hematologic and autoimmune disorders, sleep-disordered breathing, and early-onset Alzheimer disease, requiring coordinated interprofessional care and early detection of comorbidities.

StudiuSindrom DownÎncredere înaltă19.06.2026

Strengthening health-care pathways for people with Down syndrome

Adults with Down syndrome experience health inequalities due to fragmented services, diagnostic overshadowing, and inadequate professional training, despite longer lifespans from improved management of associated conditions. The review proposes evidence-based, life-course principles including structured care transitions, annual health checks, workforce training, and supported decision-making to address avoidable health gaps and improve outcomes.