Down Syndrome

A congenital disorder arising from a chromosome defect, causing intellectual impairment and physical abnormalities including short stature and a broad facial profile. It arises from a defect involving chromosome 21, usually an extra copy (trisomy-21). Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21. Down syndrome can be identified during pregnancy by prenatal screening followed by diagnostic testing, or after birth by direct observation and genetic testing.

Symptoms: The persons who are having down syndrome nearly always have physical and intellectual disabilities. Their mental abilities are typically similar to those of an 8- or 9-year-old. They also typically have poor immune function and generally reach developmental milestones at a later age. They also have other health problems like congenital heart disease, epilepsy, leukemia, thyroid diseases, and mental disorders, among others.

Diagnosis: Down's syndrome can be diagnosed before birth (prenatally) or after birth. During pregnancy, there are two types of tests that can be done to look for Down's syndrome - a screening test and a diagnostic test. It does not give a definite 'yes' or 'no' answer. If your screening test shows a higher risk that the baby has Down's syndrome. The two main tests that are used to diagnose Down's syndrome prenatally are amniocentesis and chorionic villus sampling.

Treament: There is no single, standard treatment for Down syndrome. Treatments are based on each individual's physical and intellectual needs as well as his or her personal strengths and limitations. People with Down syndrome can receive proper care while living at home and in the community. People with Down syndrome are at a greater risk for a number of health problems and conditions than are those who do not have Down syndrome. Many of these associated conditions may require immediate care right after birth, occasional treatment throughout childhood and adolescence, or long-term treatments throughout life.They also benefit from regular physical activity and social activities.

Epidemology: Worldwide, the incidence of Down syndrome is estimated to be about one in every 1000 births. In the United States, it is estimated that about 6000 babies are born each year with Down syndrome, which means around one in every 700 babies has the condition. There are three different types of Down syndrome but all give rise to similar physical and behavioural features. In about 95% of cases, babies are born with a whole and separate extra copy of chromosome 21.