Health FAQs

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 recent 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. The vast majority of 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 the 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.

Some of the features 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 positive diagnosis could be made. Taking blood from the baby and then analysing the chromosomes does this. The result is called a karyotype.

Certain medical problems are more common in people with Down's syndrome. These include:

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

However, with advances and increase access to medical care most of these problems are treatable. The Down's Syndrome Association along with the Down's Syndrome Medical Interest Group have produced health care guidelines to assist families and health professionals to set up screening programmes so that health problems can be picked up early on and treated before they become more serious.

None of these problems is unique to people with Down's syndrome, they also appear in the rest of the population.

It is also important to remember that some people with Down's syndrome do not experience any health problems.

Advances and increased access to medical care have also meant that people with Down's syndrome are living much longer. Life expectancy is now put at 60-65 years old, and many people with Down's syndrome live even longer than that.