Downʹs syndrome

The sequencing of chromosome 21 and the use of models of Downʹs syndrome in mice have allowed us to relate genes and sets of genes to the neuropathogenesis of this syndrome, and to better understand its phenotype. Research in prenatal screening and diagnosis aims to find methods to identify fetuses with Downʹs syndrome, and reduce or eliminate the need for amniocentesis. Other areas of active research and clinical interest include the association of Downʹs syndrome with coeliac disease and Alzheimerʹs disease, and improved median age of death. Medical management of the syndrome requires an organised approach of assessment, monitoring, prevention, and vigilance. Improvements in quality of life of individuals with Downʹs syndrome have resulted from improvements in medical care, identification and treatment of psychiatric disorders (such as depression, disruptive behaviour disorders, and autism), and early educational interventions with support in typical educational settings. Approaches and outcomes differ throughout the world.