Some people with Down’s syndrome have very few health problems as a result of their condition. However, other people can be more severely affected and will need extra medical care and attention.
People with Down’s syndrome are at an increased risk of developing a number of conditions and health problems. Some of these are outlined below.
Heart defects
Around 40-50% of children with Down’s syndrome have a congenital heart defect. Around 60% require treatment in hospital. A congenital defect means that you are born with it.
There are several different heart problems that can affect people with Down’s syndrome. The most common types of congenital heart disease are known as septal defects, which account for 9 out of 10 cases.
A septal defect is where a hole develops inside one of the walls that separate the four chambers of the heart. The heart has two lower chambers known as the left and right ventricles, and two upper chambers called the left atrium and the right atrium.
Septal defects, often referred to as ‘a hole in the heart’, can cause a build-up of blood in one or more of the heart’s chambers. This can place extra strain on the heart because it has to work harder to pump blood through the four chambers.
Less common serious types of congenital heart disease in people with Down’s syndrome include:
- tetralogy of Fallot , which accounts for 6% of cases
- patent ductus ateriosus, which accounts for around 4% of cases
Tetralogy of Fallot is a combination of four different heart defects that causes a lowering of oxygen levels in the blood. This can lead to symptoms of breathlessness.
Patent ductus ateriosus (PDA) is a duct or passage in the heart that usually closes shortly after birth. However, in cases of PDA, the duct fails to completely close, which means that oxygen-rich blood that is meant to be pumped away from the lungs leaks back through the duct and into the lungs.
This can place strain on the heart and the lungs because they have to work harder to compensate for the problems caused by the duct.
If your baby is diagnosed with Down’s syndrome, their heart will be carefully assessed so that any heart defects can be detected and treated as soon as possible. In around 30% of cases, the heart defect is serious and may require immediate surgery. In other cases, the heart can be monitored and treated at a later date, if necessary.
Minor septal defects can usually be treated with minor surgery. Larger defects will need open heart surgery to correct. Tetralogy of Fallot usually requires open heart surgery, and several operations may be needed to restore normal heart function. PDA can usually be treated with medication that encourages the duct to close.
See the Health A-Z topic about Congenital heart disease for more information.
Hearing problems
Around 50% of people with Down’s syndrome have problems with their ears and hearing.
Glue ear is a condition that commonly affects people with Down’s syndrome. It is caused by a build up of fluid in the middle ear. In some cases, the fluid thickens and makes sounds appear muffled and distorted.
If your child has a hearing problem, they may find it difficult to learn and interact with other children. If your child has glue ear as a result of Down’s syndrome, they will usually be referred to an ear, nose and throat (ENT) specialist for treatment.
See the Health A-Z topic about Glue ear for more information.
Vision problems
Around 50% of people with Down’s syndrome also have problems with their eyesight.
A squint, which is a condition where one eye turns inwards, outwards, upwards or downwards, is common in people with Down’s syndrome, but can usually be successfully treated by wearing glasses. But occasionally, surgery may be used to correct a squint.
Other eye problems can include:
- lazy eye - where one eye does not develop fully so loses some focusing ability
- short sightedness - where distant objects appear blurred
- long sightedness - where nearby objects appear blurred
- eye infections - most infections occur in either the membrane that covers the eye (conjunctivitis), the middle layer of the eye (uveitis), or the eyelids (blepharitis)
- cataracts - where the lens (the transparent layer at the front of the eye) clouds over
- nystagmus - where the eyes move uncontrollably, usually from side to side
- keratoconus - where the cornea becomes thin and bulges out
Oral health
Many people with Down’s syndrome experience problems with their oral health such as:
- tooth decay - where teeth are gradually broken down by bacteria
- periodontitis - an infection of the gums and surrounding tissue and bone
People with Down’s syndrome often have poor levels of oral health because:
- they may find it difficult to brush their teeth
- they often have lower levels of saliva than most people, and saliva provides some protection against bacteria
It is recommended that all people with Down’s syndrome regularly brush their teeth with a high-fluoride toothpaste (your pharmacist can advise you about this).
People with Down’s syndrome may find using an electric toothbrush easier than using a manual one. Those who have particularly severe Down’s syndrome may need to have help brushing their teeth.
Thyroid problems
Around 10% of people with Down’s syndrome have problems with their thyroid gland. The thyroid gland is located in the neck and is responsible for controlling your metabolism (the rate at which your body uses up the energy). It does this by releasing thyroid hormones into the body.
Most people with Down’s syndrome have hypothyroidism, which means their thyroid gland is under-active because it does not produce enough hormones. Symptoms of an under-active thyroid gland can include:
- lethargy (lack of energy)
- weight gain
- slow physical and mental reactions
- muscle aches and weakness
- dry, flaky skin
See the Health A-Z topic about Hypothyroidism for more information.
In rarer cases, people with Down’s syndrome can also develop hyperthyroidism, which means their thyroid gland is over-active and produces too much thyroid hormone. Symptoms of hyperthyroidism can include:
- hyperactivity
- difficulty breathing
- mood swings
- difficulty sleeping
- lethargy (lack of energy)
- muscle weakness
- the need to pass stools or urine frequently
See the Health A-Z topic about Hyperthyroidism for more information.
Increased susceptibility to infection
People with Down’s syndrome are 12 times more likely to develop an infection compared with the general population, particularly the lung infection pneumonia. This is because their immune system (the body’s natural defence against infection) has not developed properly.
Leukaemia
Children with Down’s syndrome have an increased risk of developing acute leukaemia, which is a form of cancer that affects the white blood cells (the cells responsible for fighting infection and protecting against it).
Some research suggests that children with Down’s syndrome are 56 times more likely to develop acute leukaemia before the age of five, compared with children who do not have the condition.
Even though a child with Down’s syndrome has an increased risk of developing leukaemia, it does not necessarily mean that they will develop the condition. For example, only 1 in 100 children with Down’s syndrome go on to develop acute leukaemia.
See the Health A-Z topic about Acute leukaemia for more information.
Intestinal problems
Many people with Down’s syndrome have some sort of intestinal problem. Some problems are mild and are common in people with and without Down’s syndrome. For example, constipation, diarrhoea and indigestion are all common.
However, people with Down’s syndrome are more likely to have more significant intestinal problems, such as small bowel obstruction, which stops food passing from the stomach into the large bowel.
An estimated 5-15% of people with Down’s syndrome will develop coeliac disease, which is a condition where a person has an intolerance to gluten, a type of protein found in most cereals.
Conditions such as imperforate anus (where a baby is born without an anal opening), or Hirschsprung’s disease (where the large bowel is unable to push faeces towards the anus) are relatively rare, but are slightly more common in children with Down’s syndrome. For example, approximately 2% of babies with Down’s syndrome develop Hirschsprung’s disease.
Psychological and behavioural conditions
Around 1 in 5 people with Down’s syndrome will develop a psychological or behavioural condition.
Conditions that can develop in younger children include:
Conditions that can develop in teenagers and adults include:
- depression - a condition that causes persistent feelings of extreme sadness
- obsessive compulsive disorder - a health condition that is usually associated with both obsessive thoughts and compulsive behaviour
Dementia
People with Down’s syndrome are more likely to develop dementia when they get older and, in particular, a type of dementia that is known as Alzheimer’s disease.
Alzheimer's disease attacks nerves, brain cells and neurotransmitters (chemicals that carry messages to and from the brain).
This can lead to a progressive loss of mental function, and causes symptoms such as:
- confusion
- poor memory and forgetfulness
- mood swings
- speech problems
Compared to the rest of the population, people with Down’s syndrome tend to develop Alzheimer’s disease at an early age. Approximately 40% of 50 to 59-year-olds with Down’s syndrome develop Alzheimer’s disease. Two thirds will develop Alzheimer’s disease by the time they reach 60.
A number of medications, such as donepezil and rivastigmine, can be used to slow down the loss of mental function, but it is currently uncertain whether these medications are effective in people with Down’s syndrome. Further research is required.
Dysphagia
Many older people who have Down’s syndrome will develop problems with eating, drinking and swallowing. The medical term for this is dysphagia.
Dysphagia can be caused by a number of factors, such as a complication of severe Alzheimer’s disease or the wasting of the muscles that are used in swallowing.
Dysphagia is a potentially serious condition because it is possible for small pieces of food or drink to fall down into the lungs and trigger a serious infection. This is known as aspiration pneumonia and can often be fatal.
Mild to moderate dysphagia can be treated by making simple dietary changes. For example, eating soft foods that are easy to swallow, such as soup or mashed potatoes. However, more severe cases may require the use of a feeding tube.
See the Health A-Z topic about Dysphagia for more information.
