Living With Down's Syndrome

People with Down syndrome, whatever their age, are people first. They are people with abilities, strengths and weaknesses like everyone else. They may have additional needs but first they have the same needs as everyone else of their age group. The quality of health care, education and community support provided to children and adults with Down syndrome makes a real difference to their progress throughout life. This module provides an introduction to all the issues that need to be addressed to enable individuals with Down syndrome, and their families, to enjoy full and happy lives within their communities. It offers an overview of the development of individuals with Down syndrome from infancy to adult life. It also provides a summary of the causes of Down syndrome, the incidence and prevalence of the condition, life expectancy and associated education and health care needs.

Types of Down's syndrome

• Trisomy 21 is when all the cells have an extra chromosome 21. This happens in most people with Down's syndrome.
• Translocation is when an extra fragment of chromosome 21 attaches to another chromosome. This happens in about one in 25 people with Down's syndrome.Mosaicism is when only some cells have an extra chromosome 21 while others don't. This happens in about one in 50 people with Down's syndrome.
  

  Symptoms of Down's syndrome

  The extra chromosome 21 causes characteristic physical features in people with Down's syndrome. These usually include some of the symptoms listed below.

  • Low-set eyes that slope upwards, with vertical skin folds (epicanthic folds) between the upper eyelids and the inner corner of the eye.
  • A small mouth, which means the tongue may seem big and may stick out.
  • A flattening at the back of the head.
  • A flattened bridge of the nose.
  • Broad hands with a single crease across the palm
  • Small, low-set ears.
  • A low birth weight.
  • A short stature.

  Many of these physical features can be found in the general population; having some of these characteristics doesn't necessarily mean that a person has Down's syndrome. 

  Complications of Down's syndrome

  There are a number of complications associated with Down’s syndrome. People with Down's syndrome are more likely to have the complications below.

  • Problems with the structure of the heart, which may need surgery.
  • Eye problems, such as short- or long-sightedness or cataracts.
  • Hearing problems, ranging from mild to complete deafness.
  • Thyroid problems, including low or more rarely, high levels of thyroid hormones.
  • Poor immunity, and so are more prone to chest infections, coughs and colds.
  • Problems with the digestive system, such as an obstruction; babies may have feeding problems and may not gain weight normally and need surgery.
  • Dementia at an earlier age (it occurs 20 to 30 years earlier than in the rest of the population).
  • Leukaemia.

  It's important for people with Down's syndrome to have regular health checks so that these conditions can be diagnosed and treated at an early stage.

  Because of health problems associated with Down’s syndrome, people with the condition have a lower life expectancy of around 50 to 60 years. However, advances in medical knowledge and a better awareness of healthy lifestyles have enabled people with Down’s syndrome to live longer compared to the past.

  Development

  All people with Down's syndrome have some level of learning disability but the severity can differ significantly between individuals. Children usually learn to walk, talk, read and write, but more slowly than other children of their age. People with Down's syndrome learn to do things throughout their lives at different rates. If you have a child who has Down’s syndrome, there isn’t a way to measure how your child will develop but with the right support you can help your child to reach their full potential. Early intervention programmes can offer support in all areas of child development.

  Causes of Down's syndrome

  Down's syndrome is caused by an extra chromosome as a result of a problem in cell division but it's not known what causes that to happen. However, the chance of having a baby with Down's syndrome increases with the mother's age. For women, the chance of having a baby with Down's syndrome at:

  • age 20 – is one in 1,500
  • age 30 – is one in 900
  • age 40 – is one in 100

  However, most babies with Down's syndrome are born to women under 35, since these women account for the majority of the childbearing population.

  The chance of you having a baby with Down's syndrome has nothing to do with where you live, your social class or your race. You can't do anything before or during pregnancy to change the chance of your baby having Down's syndrome.

  Diagnosis of Down's syndrome

  Babies with Down's syndrome are usually diagnosed in the first few days after birth. Doctors and midwives are trained to identify the physical characteristics associated with the condition. Some babies have almost no physical signs while others have all of them. A blood test to analyse your baby’s chromosomes is then used to confirm the diagnosis. This is sent to a laboratory for testing.

  There are also screening tests for Down's syndrome that you can have while you're pregnant. Screening takes place during either your first trimester (three months) or second trimester (six months) by either ultrasound or through a blood test, or a combination of both. Screening tests don't give a definite answer, but can tell you if your baby has an increased risk of having Down's syndrome.

  If the screening tests show that your baby has an increased risk of having Down's syndrome, you will be offered further diagnostic tests, such as chorionic villus sampling. This involves passing a needle into your womb and taking a sample of chorionic villi which are located in your placenta. You may also be offered amniocentesis, which is where a sample of amniotic fluid is taken from your womb using a needle. These tests involve some risks so are usually only offered to women if earlier screening tests suggest their baby is likely to have Down's syndrome.

  
  

  Medical and social support
  
  A team of professionals can help support people with Down's syndrome, and their families. This team may include a GP, a paediatrician, midwife, health visitor, occupational and speech therapists and a physiotherapist for example.

  Specialist doctors monitor all babies with Down's syndrome for health problems, and children with the condition have regular growth, hearing and sight, and thyroid checks. It's also important for adults with Down's syndrome to have regular sight, hearing and thyroid function tests.

  Occupational therapists can help with educational support issues. Most children with Down's syndrome go to mainstream schools, but they may also attend a school for children with special needs.