Charmaine Scott, Contributor

Down's syndrome (DS) occurs when body cells divide and an extra chromosome (threadlike structure which carries genes) becomes present in some or all cells. This causes a characteristic group of physical features associated with learning difficulties. The condition was first described by English doctor - John Langdon Down - and is named after him. It has been estimated that DS is present in one in every 1,000 babies born.

Features

Floppiness due to decreased muscle tone.

Flat nasal bridge.

Small nose and mouth with tongue appearing large.

Eyes slanted upwards and outwards, with extra skin in the middle corner.

Space between first and second toes.

A single crease across the palm.

Below average weight and length at birth.

Short broad hands.

Short curved fifth finger.

Causes

The human body is made up of cells. Each cell usually contains 23 pairs of chromosomes. Half of these are inherited from the mother, and the other half from the father. These pairs of chromosomes are numbered and each person should have a total of 46 single ones.

In persons with DS however, the 21st pair of chromosomes have three instead of two, resulting in the total of 47 chromosomes.

The true cause of DS, remains a mystery. This condition may affect anyone, an a woman's chance of having a child with DS increases with age, two-thirds of all children with this condition are born to mothers under the age of 35 years. Tests may be done on samples of amniotic fluid (water which surrounds the baby in the mother's womb) to detect whether the unborn baby will have DS.

Health care issues

Children with DS may face a number of different health care issues. Some children may suffer from none of these medical conditions, others from only some of them, and others from all. Each child is an individual and as such will be unique with respect to their medical problems. Some of these issues may present at birth, others may occur throughout their lives. These health care issues include:

Learning difficulties

Heart disorders

Digestive difficulties

Dental and oral problems

Hearing difficulties

Vision impairment

Infections

Thyroid dysfunction

Blood disorders

Epilepsy

Cervical spine instability

Breathing difficulties

Heart disorders are the most devastating of these issues. These are found in about half of babies born with DS, and can significantly affect the quality of life of children with DS. They are challenging and expensive to treat.

It is very important that as soon as your child is diagnosed with DS, cardiac screening, which must include Echodoppler (ultrasound ) examination, be done. You should also ensure that you register with the early stimulation programme nearest to you; this will give your child the best opportunity to develop his/her intellectual potential. Regular visits to your paediatrician will help to identify problems present in your child.

We are currently conducting a study to establish the pattern of DS in Jamaican children. This information will be very useful in implementing strategies to help children and families of children with DS. Please call 968-3273 for more information, or you may email us at jamaicadownssyndrome@cwjamaica.com.