A Comprehensive Review of Down Syndrome: Molecular Basis, Clinical Characteristics and Therapeutic Prospects

Abstract

Trisomy 21—another name for Down syndrome—is a genetic disease brought on by the presence of an extra copy of chromosome 21. Physical, mental, and developmental traits are produced as a result of this increased genetic material. Common facial characteristics of people with Down syndrome include almond-shaped eyes and a flat nasal bridge. In addition to having a higher risk of developing certain medical diseases, such as heart defects, hearing loss, and thyroid disorders, they may also face delays in their motor and cognitive development. Down syndrome sufferers often have mild to moderate intellectual handicap, while their cognitive abilities can vary greatly. They can greatly improve their quality of life and reach their full potential with early intervention, specialised education, and supportive environments. The quality of life for those with Down syndrome is improving, and they are making a variety of contributions to their communities thanks to changes in medical treatment and societal views. Down syndrome's impacts on brain function and development are still being better understood through research into the basic factors that underlie it. The goal of these efforts is to develop tailored therapeutics to enhance cognitive and developmental outcomes by better understanding the genetic and molecular components that contribute to the condition. Overall, research into, advocacy for, and support for people with Down syndrome continues. These efforts are aimed at advancing inclusivity, equal opportunity, and a greater understanding of neuro diversity1