Down Syndrome (DS) is the mostly widely known genetic disorder as found in humans. It is caused by the presence of part of all of chromosome 21 in one’s genetic structure. People with Down Syndrome may have below average IQ, delayed development of mental abilities, affected growth etc. and may develop a particular set of facial characteristics.
The disorder got its name from John Langdon Down, who was a physician of British origin. He was the first person to have described the symptoms in the year 1866. Before that it was clinically portrayed either by Jean Etienne Dominique Esquirol in the year 1838 or by Edouard Seguin in 1844.
Dr. Jérôme Lejeune was the first person to have recognized it as chromosome 21 trisomy in 1959. Unlike certain other mental conditions that affect normal growth in a child, Down syndrome can be diagnosed in a child at the time of birth or through prenatal screening during pregnancy. If the fetus is diagnosed with Down syndrome the medical abortion is often suggested.
A child born with Down syndrome suffers from below average intelligence. The presence of chromosome 21 delays the child’s mental and physical growth. However, it has been found that the different medical problems associated with the condition may vary from one to another. When some children may need extensive medical care others can live a comparatively healthy, normal life.
What causes DS?
It is a type of genetic disorder and usually occurs during copulation. When the mother conceives the fetus can be formed with an extra set of chromosome 21. In this case the child is born with 47 sets of chromosome instead of 46. The presence of the extra set of chromosome causes the abnormalities in child, affects its growth and develops certain facial characteristics.
Why this happens in certain cases, however, isn’t known. It has been observed that the mother’s age plays a role in determining whether the newborn will be exposed to DS. For women below the age of 30 the chance of conceiving a child with DS is 1 in every 1000. This rate increases to 1 in every 400 births in women age 35 years and more. The risks subsequently increase with the child bearing age of the mother. For women over 40 the risk is as high as 1 in every 100 births.
Treatments and cure of DS
Like Cerebral Palsy cure isn’t available for DS as well. But it can be traced during pregnancy through parental screening and often a fetus diagnosed with DS is terminated. A child born with DS however can be treated through therapy and special education to achieve developmental milestones.
Children with mild DS problem might not have any visible impairment. They can learn things just like a normal child and lead a normal life with minor assistance. But children with greater degree of DS would need extensive medical and therapeutic assistance.
Down Syndrome- Know Your Problem