Down's Syndrome

Down's Syndrome

Down's syndrome is caused by an abnormality in a baby's chromosomes, which results in particular physical characteristics, and a degree of mental retardation that can range from very mild to severe.

The normal number of chromosomes in a person is 46, but a Down's baby has 47, and that one extra chromosome is responsible for all the changes associated with the condition.

The disorder occurs in about 1 in 650 births, with the likelihood increasing with maternal age, e.g the chance of a Down's baby being born to a 25 year old mother is 1 in 1,205 births. For a 35 year old mother, it is 1 in 365 births, and for a 40 year old mother, it is 1 in 40 births!

An infant born with Down's syndrome has a small head, the face is flat and the eyes are oval and slant slightly upward. There is a broad ridge to the nose, the mouth angles downwards at the corners and tends to hang open. The back of the head and neck is usually flat, and the baby feels unusually floppy when handled. Often, the tongue is enlarged and protrudes from the mouth. The hands are typically broad and short. Whilst some affected babies will be of average size, many grow slowly and remain small. About 25% of Down's children suffer heart defects, whilst others develop abnormalities of the intestines. Others are prone to repeated ear infections and possible deafness.

There is no cure or treatment for Down's syndrome, though surgery can repair cardiac and other physical defects.

Despite their problems, most Down's children are very loving, happy, cheerful, especially enjoy music and get along well with the rest of the family. Many go to school, learn and enter the workforce in sheltered workshops, whilst the more severely affected need the constant attention of loving carers.

A simple blood test, usually referred to as the `triple test' is available for pregnant mothers at increased risk of having a Down's syndrome baby. Most ante natal clinics offer this free of charge, whilst others may charge a fee for such a special test to be performed!
IMPORTANT NOTICE : This content is from the Dr Chris Steele personal archive and is provided for convenience only. Information contained here may no longer agree with the most up to date medical advice. Please check with a medical professional before taking any action.

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