Medical management of children with Down syndrome

Down syndrome, trisomy 21, is the most common autosomal trisomy, and commonest identifiable cause of learning disability. Despite current prenatal screening practice birth prevalence continues to be around 1/1000 live births.Children with Down syndrome have an increased risk of congenital abnormalities and a wide range of treatable medical problems. Paediatricians have a key role in ensuring that these are recognized and treated so that the children’s progress is not hampered by additional secondary but preventable disability, and so that health problems do not prevent them reaching their potential.In this article we consider the paediatrician’s role with a suggested approach to medical management throughout childhood, and a review of the most frequently occurring health issues. These are cardiac, respiratory, gastrointestinal and haematological disorders, thyroid dysfunction, hearing and vision problems, cervical spine and other orthopaedic problems, immune and autistic spectrum disorders, growth and sexual development.