Research Topic · Peer-Reviewed

Down Syndrome

Down syndrome is a genetic condition caused by the presence of an extra copy, in whole or part, of chromosome 21, a state known as trisomy 21. The additional genetic material alters development and produces a characteristic combination of features, including intellectual disability of variable degree, distinctive fa…

Curated from this journal's research 📚 9 peer-reviewed articles cited Cited 37× across the literature 🔖 ISSN 2470-5020 🗓 Reviewed July 2026

Overview

Down syndrome is a genetic condition caused by the presence of an extra copy, in whole or part, of chromosome 21, a state known as trisomy 21. The additional genetic material alters development and produces a characteristic combination of features, including intellectual disability of variable degree, distinctive facial characteristics, and increased risk of several medical conditions. From a neurological perspective, Down syndrome affects cognitive development, motor skills, and social functioning, and it is associated with a markedly raised lifetime risk of Alzheimer-type neurodegeneration. Commonly co-occurring conditions include obstructive sleep apnoea, congenital heart defects, and other systemic features, reflecting the broad effects of the chromosomal imbalance. Care is multidisciplinary, combining early intervention, therapies aimed at improving cognition, communication, and motor ability, and management of associated medical problems. Research considers the developmental neurobiology underlying the cognitive profile, the screening and treatment of complications such as sleep-disordered breathing, and evidence-based advocacy and educational or vocational programmes that support inclusion and autonomy for people with intellectual disabilities. Reproductive and psychosocial dimensions, including the wellbeing of adolescents and adults, are also studied. Understanding Down syndrome integrates genetics, neurology, and developmental science to inform interventions that enhance health, function, and quality of life across the lifespan.

Research published in this journal

9 peer-reviewed articles, ranked by relevance. Each links to its DOI.

How this research is being cited

The 9 articles above have been cited 37 times in the scholarly literature. Citation data via OpenAlex and Crossref, updated Jun 2026.

A sample of recent works citing this journal's research on Down Syndrome, linking to each citing work.

Editorial oversight

Curated from peer-reviewed research published in Neurological Research and Therapy (ISSN 2470-5020).

Journal editorial board
Ian J Martins · Australia Giuseppe Lanza · Italy Ion Codreanu · United States

This page summarises published research for orientation; it is not medical or professional advice.