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Tuesday, February 28, 2017

Down Syndrome - All you need to know

Down Syndrome refers to a set of physical and mental traits caused by a genetic disorder that occurs before birth. Children who have Down Syndrome tend to have certain physical features, such as a flat face and a short neck due to delay of growth. They also have some degree of intellectual disability. This varies from person to person. But in most cases it is mild to moderate. It is a lifelong condition, but with care and support, children who have Down Syndrome can grow up to have healthy, happy and productive lives.

What Causes Down Syndrome?

Down Syndrome is caused by an extra copy of genetic material on all or part of the 21st chromosome. Every cell in the body contains genes that are grouped along chromosomes in the cell's nucleus. There are normally 46 chromosomes in each cell, 23 inherited from the mother and 23 from the father. When some or all of a person's cells have an extra, full or partial, copy of chromosome 21, it results is Down Syndrome.

The most common form of Down Syndrome is known as Trisomy 21, a condition where individuals have 47 chromosomes in each cell instead of 46. Trisomy 21 is caused by an error in cell division called nondisjunction, which leaves a sperm or egg cell with an extra copy of chromosome 21 before or at conception. This variant accounts for 95 percent of Down Syndrome cases. The remaining 5 percent of Down Syndrome cases are due to conditions called Mosaicism and Robertsonian Translocation.

Mosaic Down Syndrome results when some cells in the body are normal while others have Trisomy 21. Robertsonian Translocation occurs when part of chromosome 21 breaks off during cell division and attaches to another chromosome (usually chromosome 14). The presence of this extra part of chromosome 21 causes certain Down Syndrome characteristics. Although a person with a translocation may appear physically normal, he or she has a greater risk of producing a child with an extra 21st chromosome.

Seven worldwide facts related to Down Syndrome

1. The Reason Behind its Name: Down Syndrome is named after English physician John Langdon Down, who was the first to point it out as a mental disorder. He had initially referred to the disorder as "Mongoloid", drawing resemblance to the features of people from the Mongoloid region. However, in 1965 WHO dropped the term after requests from Mongolia People's republic, as well as from scientists when it was established that it was a genetic disorder.

2. Exact Cause: The exact cause of the extra chromosome that triggers Down syndrome is still unknown. And there is still no cure for it.

3. Most Common Chromosomal Condition: One in every 691 babies in the U.S. is born with Down Syndrome, making it the most common chromosomal condition

4. Life Expectancy: Earlier the life expectancy of a patient suffering Down Syndrome was 25 but now it is 60.

5. Developmental and Cognitive Impairment: Down Syndrome leads to short, delayed development, learning disability and speech delay in child.It also leads to intellectual disability and poor understanding among the patients.

6. Tongue Disorder: Patients have abnormally large tongue or displacement of tongue, which can be a result of Down Syndrome.

7. Impaired Eyes and Ears: Down Syndrome leads to lazy eyes or formation of spots around the eyes cavity of patients80 per cent of people suffering from down syndrome faces hearing problems as well.

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