Life expectancy estimates for adults with Down’s syndrome have increased in recent decades. This mirrors the improved access to medical treatment for those with a learning disability, and a shift in public attitudes during the past 20 to 30 years that has resulted in better care within the community. Improved surgical repair of congenital heart defects have also had an impact.  

Yet, people with Down’s syndrome are at risk of “accelerated ageing” such as early-onset dementia, early-onset menopause, hearing and visual impairments, and musculoskeletal problems. By the time they reach the age of 45 years they can be considered as “old”. Many family members and caregivers commonly observe that people with Down’s syndrome appear to “slow down” once they enter their late 40s or 50s.

This article discusses some of the more common health issues in the ageing patient with Down’s syndrome as well as the prevention and treatment measures available that can reduce the risk of long-term illnesses and increase quality of life.

It is important that family carers are well informed of health issues in advancing age so decisions can be made about health management.

Annual health check

Anyone who has a learning disability and is aged over 14 years, should have an annual health check with their GP. Annual health checks can identify undetected health conditions early, ensure the appropriateness of ongoing treatments and establish trust and continuity care with the medical profession.

The Royal College of General Practice (RCGP) together with NHS England have produced a toolkit with guidance and resources to help GPs, practice nurses and their wider team to organise and perform quality annual health checks on people with learning disability.

It has a syndrome specific guide for Down’s syndrome. which focuses on eyesight and hearing, feeding, bowel and bladder function, behavioural problems and decline in skills.

Mencap also have an easy read guide on what to expect from a health check.

Down’s syndrome and Alzheimer’s disease

It is well documented that adults with Down's syndrome are at higher risk of Alzheimer’s disease. This could be because of an extra copy of the amyloid-β precursor protein (APP) gene located on chromosome 21.

The US National Down Syndrome Society (NDSS) say that most adults with Down’s syndrome will not self-report concerns about memory. Instead, it will take an astute caregiver who knows the individual well to identify early changes or concerns and bring them to the attention of a medical professional.

It adds that Alzheimer’s disease is not inevitable in people with Down's syndrome. While all people with Down's syndrome are at risk, many adults will not manifest the changes of Alzheimer’s disease in their lifetime.

In addition, research from the Down’s Syndrome Resource Foundation has found that a healthy lifestyle can help the brain function more optimally and reduce the impact that genetics have on developing the disease.

Elizabeth Head and Frederick Schmitt from the University of Kentucky said that a diet rich in fruits and vegetables that contain lots of antioxidants is associated with a reduced risk of developing Alzheimer’s disease. They also said that evidence suggests that a Mediterranean diet (including foods like fruits, vegetables, nuts and grains) also appears to lower risk of disease.

A healthy diet may be particularly beneficial for people with Down’s syndrome as several genes on chromosome 21 can lead to higher levels of oxidative stress in the brain, which is modifiable with a diet rich in antioxidants.

They added that physical exercise is another lifestyle habit that can lead to vast benefits both for the heart and for the brain, especially as a recent study suggested that extra weight in midlife may lead to an earlier age of onset of Alzheimer’s disease.

Obesity is widespread in people with Down’s syndrome (89-95%), likely due to lower activity levels and a lower metabolic rate, making exercise and energy restriction critical in maintaining a healthy weight. Walking, running, playing sports, dancing and strength training all come with significant benefits to brain health.

Obstructive sleep apnoea

At least one third of people with Down’s syndrome have obstructive sleep apnoea (OSA), which may be due to a small jaw and upper airways combined with macroglossia, as well as blocked nose and most of all obesity. OSA can occur at any age and cause daytime sleepiness, behavioural change, loss of skills and other symptoms suggestive of depression or dementia.

The RCGP guide says that management should include an Epworth sleepiness score and referral for sleep studies. Weight loss, if obese, as well as a continuous positive airway pressure (CPAP) mask overnight can dramatically improve the symptoms of OSA and the wellbeing of patients.

The main symptoms to look out for, according to the Down’s Syndrome Association (DSA), are history of loud snoring combined with restless sleep, gasping noises when sleeping, drowsiness during the day, behaviour changes, poor concentration and irritability.

Mental health problems

As adults with Down’s syndrome grow older, there is increased risk of experiencing certain common mental health disorders like depression, anxiety, obsessive compulsive disorder and behavioral disturbances.

In its Getting Older guide, the DSA say that there is evidence that people with Down’s syndrome may be more prone to depression than the general population. The reasons can be multitude including the impact of events in their lives, such as past abuse or recent bereavement.

It says severe depression is initially best treated usually through the use of the newer anti-depressant medications. However, it is also important to deal with any other major issues in a person’s life, such as the quality of the environment, or bereavement. The effects of these changes should not be underestimated as individuals may experience great difficulty coping.

The RCGP guide says discriminating depression from dementia can also be difficult but is important, since the former is amenable to medical therapy. Symptoms more suggestive of depression include withdrawal and decreased appetite and speech.

Hypothyroidism

Hyperthyroidism in people with Down’s syndrome is also more common than in the general population. It affects 15-37%, increasing with age and the development of under-activity of the thyroid gland can occur slowly and go unnoticed.

The key changes that should lead to a suspicion that someone may have hypothyroidism are dry skin/brittle hair, general mental and physical slowing, increased intolerance of cold and unexplained weight increase.

Thyroid dysfunction is easily detected via a screening blood test and thyroid medication is prescribed to regulate abnormal hormone levels.

Menopause

Women with Down’s syndrome have an earlier menopause around 44 years on average. According to the DSA, the emotional symptoms of the menopause are often dismissed as challenging behaviour caused by the woman’s learning disability, rather than being correctly diagnosed.

This difficulty can be compounded by the fact that women with Down’s syndrome often have problems describing their symptoms. They are often not aware of a “hot flush”; being unable to tell the difference between a flush and feeling hot due to the weather, for example.

The early onset of the menopause is often associated with osteoporosis. Down’s syndrome is already an independent risk factor for osteoporosis, further increased by early menopause, anti-epileptic medication and other risk factors so there is an increased fracture risk in women over the age of 50 years.

Often there are no symptoms of osteoporosis, but sometimes there may be a change in the way a person walks. If osteoporosis is suspected, a bone density test may be carried out.

Planning for the future

As well as recognising and treating health issues, a person with Down’s syndrome will face many life changes as they get older, including retirement, loss of parents or other carers, and moving from home. That is why it is important to get support to plan for the future.

This could include avoiding a potential crisis situation created by illness or death of a carer, or ensuring continued access with the community after retirement.

Maintaining sources of enrichment, pleasure and stimulation are critical for individuals with Down’s syndrome and will not only improve quality of life but social interaction can help maintain physical and mental well-being.

 

Resources

Getting older: Down’s Syndrome Association

Mencap: Annual Health Checks

National Down Syndrome Society: Aging and Down Syndrome