We frequently hear that DNA is genetic blueprint of life. Just as a thread wound neatly around a spool, a cell wraps the DNA in the nucleus with a similar mechanism. All traits of a living being are stored in the DNA of its genes. Chromosomes are genetic units created by condensation of DNA, which pass on hereditary characteristics for all life forms. Humans have 23 pairs of chromosomes.
Down syndrome (also known as “mongolism” or “trisomy 21”) is a genetic disorder caused by an extra Chromosome 21.
Newborns with Down syndrome have a distinctive facial appearance. The head of an individual with Down syndrome is smaller, the back of the head is flat, and the back of the neck is short and thick. The bridge of the nose is smaller than usual, ears are set lower on the head, and eyes appear independent and slant slightly upward. (Since this appearance was likened to the characteristics of the Mongolian race, the condition is also called “mongolism.”)
The tongue is very wide and hinders speaking. There are often nodes on the back of the neck. Infants with Down syndrome have low muscle tone. They have wide hands, short and chubby fingers, and a single line called the “Simian line” in one or both of their hands. Their little finger is usually bent inward, and their body short and stocky. They have a larger gap between their big toe and other toes, and their tongue appears loose. They may have respiratory diseases and cardiac disorders from childhood. While they had a shorter life span in the past century, recent developments in medicine and good care extend their life expectancy to 50 years today.
Children with Down syndrome usually grow, gain weight and learn more slowly, and have more difficulty solving problems and making decisions than other children. Their IQ scores are below average. However, a good education started in the early years results in a significant increase in IQ. With the right education, children with Down syndrome can lead a normal life. Given the opportunity, they can have a profession. They can reach the level of making their own life decisions. They need psychotherapy, special education and language therapy. They should receive a well-planned and professional education for all of these.
The family’s support as well as social and medical support beginning in the early years of childhood may allow individuals with Down syndrome to integrate into a normal life.
Down Syndrome was first described by the British physician John Langdon Down in 1866. Each year, March 21 is celebrated as the Down Syndrome Awareness Day.