Preventive health and screening for people with Down syndrome

Disease prevention and health promotion is equally important for people with Down syndrome as it is for the general population. Interventions include immunisation, cancer screening, a healthy diet and adequate exercise. Down syndrome is associated with an increased risk of being overweight; a particular focus is required on maintaining a healthy weight throughout life.

Proactive health surveillance is vital because many people with Down syndrome have difficulty identifying and describing symptoms, see Communicating with people with developmental disability. The general practitioner (GP) or practice nurse can:

• ensure the person or their parents or carers receive information about preventive health activities in a format they can understand
• ask about common health problems in people with Down syndrome; see also the Developmental Disabilities Primary Care Initiative, Surrey Place (Canada) Health Watch Table for Down syndrome
• ask about changes in mood or behaviour, including sleep and cognitive or functional decline; arrange a baseline functional assessment around age 30
• refer to a physiotherapist to develop a physical activity plan suited to the person’s abilities and interests; include activities as part of their daily routine and document them in the care plan
• give standard vaccinations, including influenza and pneumococcal, according to the Australian Immunisation Handbook
  • hepatitis A vaccine is recommended for people with developmental disability and their carers; hepatitis B vaccine is recommended for those who live in residential facilities or attend daycare facilities
• assess and immunise people with Down syndrome who are known to be immunocompromised (eg those with leukaemia); specialist advice may be required on specific vaccination needs
• encourage the person or their parents or carers to keep a personal health record
• ask about oral and dental problems and recommend 6-monthly dental checks
• perform standard health screening for age group; refer to the Royal Australian College of General Practitioners (RACGP) Guidelines for preventive activities in general practice. For strategies to support people who find examinations difficult, see Physical examination and investigations
• review medications (including complementary and over-the-counter medications); see Medication reviews.

Consider using a disability comprehensive health assessment template to prompt an annual assessment and identify health problems that are often missed or misdiagnosed in this group; see Comprehensive health assessments and Commonly missed health problems in people with developmental disability. Some online resources for health practitioners that are specific to care of people with Down syndrome are listed in Resources for health practitioners caring for a person with Down syndrome .

For advice on preventive health and screening at various life stages in people with developmental disability, see children, adolescents, adults or people who are ageing.