What is
Down's syndrome?
Down’s syndrome, also known as “mongolism”, a term no longer used
due to its racial connotations, is an abnormality of the
chromosomes. Also called Trisomy 21, it is caused due to erroneous
disjunction of chromosomes during cell division. Chromosomes are
present in all cells of the body and occur in pairs – one coming
from each parent. The chromosomes carry information coded in
genes, that controls the various functions of the cell. Each cell
has 23 pairs of chromosomes. In Down’s syndrome, the chromosomes
fail to separate fully at the time of cell division, resulting in
an extra chromosome in the sperm or egg. When any of these
abnormal gametes or sex cells combines with a normal mate, the
resulting fertilised egg will have an abnormal number of
chromosomes.
What are its characteristic features?
Children with Down’s syndrome have a very characteristic physical
appearance with the following features:
* Smaller than normal head or microcephaly.
* Broad forehead, flattened nose and protruding tongue.
* Upward slanting eyes, which may have a filmy fold in the inner
corner.
* Short, broad hands with short fingers. The palm may have just
one crease rather than many called a simian crease.
* These children have varying degrees of intellectual retardation.
Besides these apparent physical abnormalities, these children may
have other birth defects of the heart, oesophagus (food pipe) or
gastro-intestinal tract, which may have to be treated surgically.
How is it diagnosed?
The characteristic appearance of the baby may make the
paediatrician suspect the disorder at birth. The diagnosis can be
confirmed by performing a blood test in which the chromosomes
present in the cells can be counted. This test is called a
chromosome analysis. Other associated birth defects may require
further tests for diagnosis. Inability at birth to pass a tube
from the mouth to the stomach may indicate an oesophageal
obstruction, while excessive vomiting may be due to
gastrointestinal defects. X-rays and ECG may be done to determine
if any abnormality of the heart is present.
Can it be diagnosed before a baby is born?
Tests can now be done on a baby growing in the womb of the mother
(foetus) to find out if he has Down’s syndrome. Cells from the
foetus are taken and a chromosome analysis is done. In case it is
diagnosed, the pregnancy may be terminated. This test can be done
as early as 10 to 14 weeks of pregnancy.
What is the treatment?
Since Down’s syndrome is a condition and not a disease, it cannot
be treated or cured. The child’s average mental age even after
complete maturity is attained, is rarely more than 8 years.
However, the child can be helped to adapt to the social conditions
by way of integration. Many educational institutions catering
specifically to the needs of special children are operating in the
country. These provide academic and vocational education to these
children to make them functional members of the society.
Clinical conditions occurring in conjunction with Down’s syndrome
have to be medically treated. Since specific conditions like
epilepsy often occur in a child with this condition, medications
can be given to reduce the accompanying symptoms. The child can
also be treated for disruptive behaviours that are a result of the
intellectual impairment, and also for the increased susceptibility
to infections. Other associated disorders like visual and hearing
impairment are also potentially treatable.
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