A Very Brief Guide to Down’s Syndrome

 1. Down’s Syndrome occurs in one in a thousand live births.

Ask people to define ‘learning disability’, and they will usually describe someone with Down’s Syndrome (DS). This is because people with DS have a distinctive appearance, with eyes that are almond-shaped and slant upwards, together with other physical features including a short neck, a face that is flatter than usual, small hands and feet, short stature, and a tongue that tends to stick out of the mouth. Despite these shared characteristics, people with DS, like all of us, resemble their parents.

DS is a genetic abnormality, which occurs at conception for unknown reasons. Each person with DS has an extra copy of chromosome 21 in their body’s cells. Apart from a few rare cases, DS is not an inherited disease and can occur in all racial groups. Although the chance of having a baby with DS increases with maternal age, babies with the syndrome are born to mothers of all ages. There is as yet no means of reversing DS, but all pregnant women in England and Wales are now offered screening with the option of termination if tests prove positive for DS. The great majority (92%) choose termination, and the number of lives births with DS in England and Wales is about 750/year, equivalent to one in a thousand live births.

2. Most people with DS have multiple disabilities and health problems.

All people with DS have a learning disability, and the majority also have a range of disabilities and health problems typically associated with the syndrome. Some of these occur from birth, but most are associated with premature ageing, and the health of most people with DS deteriorates sharply after the age of 40 years. About half of all people with DS live beyond 60 years of age.

The most common disorders are:

  • Hearing loss and ear infections. Children with DS may suffer from loss of hearing, especially as a result of glue ear. The majority of people with DS have hearing problems after the age of 50 years.
  • Obstructive sleep apnoea (OSA). More than half of people with DS at all ages have a condition in which their breathing stops temporarily while they are asleep. This disrupts sleep and can cause drowsiness during the day.
  • Eye diseases. About half of children with DS have problems with their eyesight, which may include short-sight, long-sight, cataracts, lazy eye, and infections such as conjunctivitis.
  • Heart defects. About half of people with DS are born with a congenital heart defect. The most common are septal defects (a ‘hole in the heart’), which places a strain on the heart because it needs to work harder to pump blood. Surgery is essential for many children with these problems.
  • Digestive problems. These include constipation, diarrhoea and indigestion, and small bowel obstruction. About one in ten people with DS also develop coeliac disease, which involves an intolerance to gluten.
  • Musculoskeletal problems. About one in ten people with DS experience orthopaedic problems, especially with dislocated kneecaps, flat feet, and dislocation of the hip.
  • Thyroid disease. Around one in five people with DS have an underactive thyroid gland (hypothyroidism), resulting in lethargy and slower physical and mental reactions.
  • Leukemia. Children with DS in the first five years of life have a much increased risk of developing acute leukaemia.
  • Increased risk of infections.  People with DS often have a weaker immune system and have greater susceptibility to infections, particularly pneumonia.
  • Early-onset dementia. After the age of 40 years, people with DS are at increasing risk of developing Alzheimer dementia, such that the majority at the age of 60 years show the clinical signs of the disorder. This is associated with an increased risk of epilepsy, which affects about 40% of people with DS at the same age.

Many people with DS have at least one of these health problems, making it essential that they receive regular healthchecks with access to specialist diagnosis and treatment. As with all people with learning disability, they should be in regular contact with people who know them well, and who can identify changes in their appearance and behaviour.

3. People with DS can lead happy and fulfilled lives.

With suitable help and encouragement, people with DS can lead happy and fulfilled lives, with the opportunity to attend normal school and college, move into their own home, find work, and develop friendships and sexual partners. Parents of children with DS can benefit from the advice and support of other parents, and should always be advised to get in touch with the Down’s Syndrome Association. This has details of all local groups of parents of children with DS, and provides information for people with DS, their parents, and professionals.

Two excellent videos show how parents respond to having a child with DS:

http://webarchive.nationalarchives.gov.uk/+/www.nhs.uk/Video/Pages/cs_downsyndrom.aspx

http://www.nhs.uk/video/pages/downsyndrom.aspx?searchtype=Tag&searchterm=Disability__Learning&

Both videos note that the children have a reduced sense of danger.

The third video emphasises the positive aspects of the lives of people with DS, their personalities, and their sense of fun: http://youtu.be/Ju-q4OnBtNU.

Finding out more

The best source of information and help on DS is the Downs Syndrome Association, which can be contacted at: http://www.downs-syndrome.org.uk/

DR Stuart Cumella
On behalf of learningdisability.co.uk Copyright 2014