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People with Down’s syndrome have a higher likelihood of several health conditions, including congenital heart defects, thyroid problems, hearing and vision difficulties and respiratory infections. This guide explains the most significant associated conditions and how they are identified and managed.
People with Down’s syndrome have an increased likelihood of a range of health conditions beyond the learning disability and developmental differences associated with the condition itself. The extra copy of chromosome 21 affects the development and function of multiple body systems, resulting in a higher rate of certain physical health conditions. Understanding these associated conditions, how to monitor for them and how to manage them effectively is important for people with Down’s syndrome, their families and the healthcare professionals who support them. With appropriate monitoring and treatment, most health conditions associated with Down’s syndrome can be well managed.
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Congenital heart defects are the most serious health condition associated with Down’s syndrome and affect around 40 to 50 percent of people with the condition. The NHS confirms that Down’s syndrome is associated with heart defects, and NADS recommends that an echocardiogram is performed on all newborns with Down’s syndrome to identify any cardiac problems. Common defects include atrioventricular septal defects, ventricular septal defects and patent ductus arteriosus. Many of these require surgical correction in infancy.
Hypothyroidism, where the thyroid gland does not produce sufficient thyroid hormone, is significantly more common in people with Down’s syndrome than in the general population. Thyroid function can also be affected by congenital hypothyroidism present from birth and by autoimmune thyroiditis developing later in life. DSMIG recommends annual thyroid function testing for all people with Down’s syndrome. Untreated hypothyroidism can affect growth, development, cognitive function and energy levels.
The majority of people with Down’s syndrome experience some degree of hearing loss at some point in their lives. Conductive hearing loss caused by recurrent ear infections and fluid in the middle ear is common in childhood. Sensorineural hearing loss may also occur. Regular hearing assessments are recommended from infancy. Hearing loss that is not identified and treated can significantly worsen language development and learning outcomes. Grommets, hearing aids and auditory training can all improve outcomes where hearing loss is identified.
Eye conditions are common in Down’s syndrome and include short-sightedness, long-sightedness, astigmatism, cataracts, squints and nystagmus. Early eye testing is recommended in all children with Down’s syndrome and glasses or other treatment are used as appropriate. Untreated vision problems can affect development and learning. Adults with Down’s syndrome should also have regular eye checks as the risk of some conditions, including cataracts, increases with age.
People with Down’s syndrome are more susceptible to respiratory infections than the general population. Structural differences in the airways, lower muscle tone in the respiratory muscles and immune system differences all contribute to this susceptibility. Pneumonia and other respiratory infections are a significant cause of morbidity and premature death. Vaccination, including flu vaccination and pneumococcal vaccination, is important for people with Down’s syndrome. Sleep apnoea is also common, particularly in adults with Down’s syndrome.
Gastrointestinal conditions including duodenal atresia, Hirschsprung’s disease and coeliac disease are more common in Down’s syndrome and should be looked for where symptoms suggest them. Atlantoaxial instability, where the joint between the first and second cervical vertebrae is less stable than usual, is present in some people with Down’s syndrome and requires careful management in relation to physical activities and surgical procedures. Skin conditions including dry skin, eczema and increased susceptibility to infections are also more common.
For related information see our articles on Heart Conditions in Down’s Syndrome and Other Conditions Alongside Down’s Syndrome.
People with Down’s syndrome have a higher likelihood of several health conditions, including congenital heart defects affecting around 40 to 50 percent, thyroid problems including hypothyroidism, hearing difficulties affecting the majority at some point, vision problems, respiratory infections, and in adult life, a significantly elevated risk of Alzheimer’s disease. Regular health monitoring is important throughout the lifespan.
No. Around 40 to 50 percent of people with Down’s syndrome are born with a congenital heart defect. The remainder do not have significant structural heart problems, though ongoing cardiac monitoring remains appropriate. For those who are born with a heart defect, many can be surgically corrected in infancy, allowing children to reach adulthood and live healthy lives.
From birth, the health monitoring schedule for people with Down’s syndrome should include an echocardiogram in the newborn period, annual thyroid function testing, regular hearing assessments, regular eye examinations and monitoring of growth and development. In adult life, monitoring for early signs of Alzheimer’s disease, sleep apnoea, hypothyroidism, and other conditions becomes increasingly important. The Down’s Syndrome Medical Interest Group publishes detailed health surveillance guidelines for different age groups.
Visit our Understanding Down’s Syndrome hub for more guides on causes, diagnosis, education, health conditions and independent living.
The information in this article is provided for educational purposes only and is not intended as medical advice. If you have concerns about Down’s syndrome or any health condition, speak to a qualified healthcare professional. SENDhelp Education Limited accepts no responsibility or liability for any loss or damage arising from reliance on this content. Any links to third-party websites are provided for convenience only and do not constitute endorsement of their content.
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