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What
is Down’s Syndrome?
Named
after Dr. Langdon Down DS is a genetic condition characterized
by the presence of 47 chromosomes, instead of 46, in the
nucleus of each cell of the carrier: therefore there is
an extra chromosome 21, and so the expression Trisomy 21.
The consequence of this alteration is a handicap characterized
by a variable degree of retardation in the mental, physical,
and motor development, and several somatic features which
are easily recognisable, such as almond eyes.
Nobody knows precisely the causes of the chromosomal alteration;
therefore, no real prevention is possible. Although we know
that the risk grows as the mother’s age increases,
many children with Down’s Syndrome are born to young
mothers.
The most used prenatal tests to diagnose Down’s Syndrome
are chorionic villus sampling (analysis of the cells from
which the placenta develops), between the 12th and the 13th
week of gestation, or amniocentesis, between the 16th and
the 18th week (analysis of the amniotic fluid).
It is calculated that in Italy there are approximately 49,000
people with DS, with a new case every 1000 new-born children.
During the last few centuries life expectancy has become
much longer, and today it may reach the age of 62.
Most people with DS can reach a fair level of personal autonomy,
though after a longer training; many can learn to read,
write, go out, go shopping, become skilled at a job and
carry it out.
It is never to be forgotten that every person with DS is
different in their own way from other people with Down’s
Syndrome, and that the degree of mental retardation is extremely
variable; this requires an individual education respecting
the pace and the inclination of each different person.
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