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Down’s syndrome

Introduction

Down’s syndrome is the largest single cause of mental handicap and affects about 1 in 660 children born. It was sometimes referred to as “mongolism”, due to the characteristic facial appearance which resembled that of the Mongolian races, but this term is no longer used. The condition was first described in 1866, by Dr John Langdom Down. In 1959 it was shown that the basic cause of the condition was the presence of an extra chromosome in the body cells.

Main characteristics

Down’s syndrome can be identified very soon after birth because of certain characteristics which may be present. Not all children will show of the characteristics often associated with Down’s syndrome but the following are the usual.

• People with Down’s syndrome tend to be short in stature. The skull is often round and flat at the back, with no definite hairline at the neck. The fingers and toes tend to be short and stubby, and the hands and feet thick and square. There are distinctive creases on the palms and soles, and the handprints and fingerprints tend to be simpler than those of a person who does not have Down’s syndrome.

• The eyes have a characteristics shape and may have epicanthic folds (folds of skin joining the upper and lower eyelids alongside the nose) Squinting is common.

• The upper and lower jaws and the bridge of the nose may be small, so that the tongue appears too large. This is exacerbated by poor muscle control. Sinuses may be missing.

• The muscles may be slack, making the baby appear floppy, and the joints may be easily dislocated.

• There may be an umbilical hernia, due to weak abdominal muscles, but this usually corrected in the first year.

• The temperature-control mechanism is usually poorly developed and similarly the brain and nervous system in general.

• The intestines are inefficient at absorbing vitamins and nutrients and the liver at metabolism carbohydrates.

• The skin and lungs are frail, and the children are more susceptible to colds and bronchial infections. Catarrh (excessive secretion of mucus from the nasal area) can be frequent, resulting in temporary hearing loss.

• Abnormalities of the heart and circulatory system occur in about a third of children with Down’s syndrome.