Down’s syndrome frequently co-occurs with other conditions including thyroid disorders, autism, coeliac disease and, in adult life, Alzheimer’s disease. This guide explains the most significant co-occurring conditions, how they are identified and how they affect support needs.
Down’s syndrome can co-occur with a range of other conditions that are more prevalent in people with the chromosomal condition than in the general population. Understanding these co-occurring conditions, how to identify them and how they affect support and care is important for families, educators and healthcare professionals. Some co-occurring conditions such as hypothyroidism are present from birth or early childhood, while others such as dementia tend to emerge in adult life. All require appropriate monitoring and management as part of the overall health care of people with Down’s syndrome.
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Hypothyroidism, where the thyroid gland produces insufficient thyroid hormone, is significantly more common in people with Down’s syndrome. It can be present from birth as congenital hypothyroidism or develop later through autoimmune thyroiditis. DSMIG recommends annual thyroid function testing for all people with Down’s syndrome. Untreated hypothyroidism can cause fatigue, weight gain, constipation, cognitive difficulties and slowed development. With appropriate treatment through thyroid hormone replacement, hypothyroidism is well managed.
Research suggests that autism co-occurs in a significant proportion of people with Down’s syndrome, with estimates ranging from around 16 to 18 percent depending on the study and diagnostic criteria used. Diagnosing autism in people with Down’s syndrome can be challenging because the social difficulties and communication differences associated with Down’s syndrome can mask or mimic some autism features. Where autism is suspected, specialist assessment is needed. Identifying co-occurring autism is important because it affects the type of support that will be most helpful.
Adults with Down’s syndrome have a significantly elevated risk of developing Alzheimer’s disease, related to the presence of an extra copy of the amyloid precursor protein gene on chromosome 21. The Alzheimer’s Society confirms that around one in three people with Down’s syndrome develop Alzheimer’s disease by age 60, with the proportion rising with age. Onset typically occurs at an earlier age than in the general population, often in the 40s or 50s. Symptoms may include memory loss, personality changes, loss of skills and increased confusion.
Coeliac disease, an immune reaction to gluten that damages the lining of the small intestine, is more common in people with Down’s syndrome than in the general population. Symptoms may include digestive problems, failure to thrive in children, fatigue and nutritional deficiencies, but some people have no obvious symptoms. Screening for coeliac disease through blood tests is recommended as part of routine health surveillance for people with Down’s syndrome. The treatment is a strict gluten-free diet.
People with Down’s syndrome are at increased risk of mental health conditions including depression and anxiety, particularly in adult life. Depression may present differently in people with Down’s syndrome compared to the general population and may be underdiagnosed as a result. Increased awareness of the signs of depression and anxiety in people with Down’s syndrome, and access to appropriate mental health support, are important for quality of life and wellbeing. Mental health conditions in people with Down’s syndrome can often be effectively treated.
Epilepsy and other seizure disorders are more common in people with Down’s syndrome than in the general population. Infantile spasms can occur in babies with Down’s syndrome. In adults with Down’s syndrome, new-onset seizures may be associated with the development of Alzheimer’s disease. Anyone with Down’s syndrome who experiences seizures should be assessed by a neurologist and appropriate treatment prescribed. Carers and families should be trained in seizure first aid and given guidance on when to seek emergency medical attention.
For related information see our articles on Down’s Syndrome Health Conditions and Heart Conditions in Down’s Syndrome.
Down’s syndrome commonly co-occurs with thyroid conditions including hypothyroidism, autism spectrum disorder in around 16 to 18 percent of cases, Alzheimer’s disease in adults particularly from the 40s onwards, coeliac disease, mental health conditions including depression and anxiety, epilepsy and various other health conditions at higher rates than in the general population.
Diagnosing autism in a person with Down’s syndrome requires specialist assessment by a clinician with expertise in both conditions. The social difficulties and communication differences associated with Down’s syndrome can mask or mimic some autism features, making standard autism assessment tools less reliable in this population. Signs that autism may be co-occurring include increased sensory sensitivities, rigid routines or extreme distress at change, reduced social interest compared to what is typical for Down’s syndrome, and communication regression.
Early signs of dementia in adults with Down’s syndrome may include memory loss, particularly for recent events, changes in personality or behaviour, loss of previously held skills, increased confusion, changes in sleep patterns and loss of interest in previously enjoyed activities. Because people with Down’s syndrome already have a learning disability, changes from the person’s own baseline are more useful than comparison to the general population. A baseline cognitive assessment in the late twenties or early thirties is recommended to provide a reference point for later comparison.
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.