Many people with Down syndrome are fit and healthy. However, there are a number of medical problems that occur more frequently in Down syndrome.  

Sometimes these may present in an unusual way. Signs of pain or illness may be missed, or misinterpreted due to an individual’s learning disability. Carers or healthcare staff may assume that signs of illness are actually simply part of their diagnosis of Down Syndrome.  

If not detected early and treated, illness can affect physical health and development. Knowledge of the different patterns of disease is important therefore to help to reduce medically associated complications and so that prompt treatment can be offered. The life expectancy of people with Down syndrome has increased dramatically over the past century, mainly due to improvements in access to cardiac surgery and better treatment of respiratory infections. 

All children and young people with Down syndrome should be under the care of a paediatrician. They should coordinate care between other healthcare professionals, and provide expert advice to carers. Regular health surveillance should be undertaken, with healthcare staff and families working together to prevent avoidable health issues, and spot any which are arising before they cause major issues.  

Transfer of care from the paediatrician to the GP usually occurs at school leaving age, with additional input from specialists when required. In the UK, all those with an intellectual disability are entitled to an annual health check, usually arranged with the GP practice. 

Updated Dr Richard Harrison and Dr Liz Marder 2023