Health FAQs

Some medical problems are more common in people with Down's syndrome. However, none of these problems are unique to Down's syndrome, and some children with Down's syndrome are as fit and healthy as any other children. Because we are aware of common medical problems in people with Down's syndrome, screening programmes can be set up so that any problems are picked up and treated as soon as possible.

Some of the common problems which children with Down's syndrome have included:

• 40 - 50 of babies with Down's syndrome are born with heart problems, half of which require surgery.
• A significant number of people with Down's syndrome have hearing or sight impairment
• Thyroid disorder
• Poor immune system
• Respiratory problems, coughs and colds
• Obstructed gastrointestinal tract.

Information on some of these conditions can be found on our website. With advances and increased access to medical care, people with Down's syndrome are living much longer. Life expectancy for people with Down's syndrome is now at around 60 - 65 years.

The current opinion of the Down Syndrome Medical Interest Group (DSMIG) is that all routine immunisations should be offered to children with Down's syndrome, and that certain additional immunisations, such as influenza immunisation, should be considered. There is some evidence that children with Down's syndrome are more susceptible to various infections, while there is no evidence that children with Down's syndrome are more likely to have an adverse reaction to immunisations.

Concern is often expressed particularly about the MMR vaccination, in the light of the controversy over a suggested link with autism. Again, the advice from the DSMIG is that there is no reason to withhold the vaccine from children with Down's syndrome. All independent research bodies, who have looked into the evidence relating to MMR and autism, have found no good quality evidence linking the two. There is no reason to suggest that children with Down's syndrome would be any more at risk of adverse side effects. The diseases which MMR protects against would be likely to be serious for a child with Down's syndrome, and single vaccines would leave the child at risk from these diseases for longer.

The human body is made up of cells. Each cell is a like tiny factory, which makes the materials, needed for growth and maintenance of the body. All cells contain a nucleus in which genes are stored. Genes are grouped along rod-like structures called chromosomes. Usually, the nucleus of each cell contains 23 pairs of chromosomes, 23 we inherit from our mother and 23 we inherit from our father.

In people with Down's syndrome the cells contain 47 chromosomes, an extra copy of chromosome 21. This additional genetic material results in Down's syndrome.

There are three types of Down's syndrome:

• Trisomy 21 - in which all the cells have an extra chromosome 21. About 94% of people with Down's syndrome will have this type
• Translocation - in which extra chromosome 21 material is attached to another chromosome. Around 4% of people with Down's syndrome have this type.
• Mosaic - in which only some of the cells have an extra chromosome 21. About 2% of people with Down's syndrome have this type.

The diagnosis of Down's syndrome is usually picked up soon after the birth of the baby because of the way it looks. There are many physical characteristics associated with the condition, which may lead a parent, or medical professional to suspect that the baby has Down's syndrome. A collection of characteristics need to be present for an initial diagnosis to be made. Not every child with Down's syndrome will clearly have all of these characteristics.

Some of the characteristics include:

• Reduced muscle tone which results in floppiness (hypotonia)
• A flat facial profile, flat nasal bridge, small nose
• Eyes that slant upwards and outwards. Often with a fold of skins that runs vertically between the lids at the inner corner of the eye (epicanthic fold)
• A small mouth, which makes the tongue, seem slightly large
• A big space between the first and second toe (sandal gap)
• Broad hands with short fingers and a little finger that curves inwards. The palm may have only one crease across it (palmar crease)
• Below average weight and length at birth

Many of these features are found in the general population. Therefore a chromosome test would need to be done on the baby before a definite diagnosis could be made. Taking blood from the baby and then analysing the chromosomes does this. The result is called a karyotype.

Down's syndrome causes delays in all areas of development for babies born with the condition. All children are different so each child with have their own strengths and weaknesses. It is impossible to predict at birth what level of help a child will need. We now have a better understanding of what children with Down's syndrome are good at and what areas of development they may need extra help with. Early intervention programmes, which are now widespread for children with learning disabilities, help in all areas of child development. These programmes can include speech and physical therapy as well as home teaching programmes for the child and family.

We do know that every baby born with Down's syndrome will have some degree of learning disability. This means that it takes longer to process information, to learn new skills, and that tasks and learning may need to be broken down into smaller steps. It does not mean that people cannot learn. Children with Down's syndrome do learn to walk,talk and be toilet trained but in general will reach these developmental milestones later than other children. Children and adults with Down's syndrome can and do continue to learn throughout their lives just like the rest of the population.