Journal of Medical Toxicology and Clinical Forensic Medicine

Life with Downâ??s syndrome is no more challenging, rather beautiful

When many people hear the words “Down syndrome” they picture a significantly disabled person with a poor quality of life. Advances in medicine mean that stereotype no longer applies. Advocates for people with Down syndrome are trying to educate the public on their abilities. The lives of the 250,000 Americans with Down syndrome today are radically different than a generation ago, says Brian Skotko, co-director of the Down syndrome program at Massachusetts General Hospital. Medical advances and educational supports have led to increased life expectancy and better quality of life for those with Down syndrome. A survey done by Skotko showed that 99% of those with Down syndrome were happy with their lives. Additionally, the survey found that 88% of siblings felt that having a person with Down syndrome as their brother or sister had made them better people. Down syndrome was first studied and described by a doctor named John Langdon Down. In every cell in the human body there is a nucleus, where genetic material is stored in genes. Genes carry the codes responsible for all of our inherited traits and are grouped along rod-like structures called chromosomes. Typically, the nucleus of each cell contains 23 pairs of chromosomes, half of which are inherited from each parent. Down syndrome occurs when an individual has a full or partial extra copy of chromosome 21. This additional genetic material alters the course of development and causes the characteristics associated with Down syndrome. A few of the common physical traits of Down syndrome are low muscle tone, small stature, an upward slant to the eyes and a single deep crease across the center of the palm – although each person with Down syndrome is a unique individual and may possess these characteristics to different degrees, or not at all. According to the Centers for Disease Control and Prevention, approximately one in every 700 babies in the United States is born with Down syndrome, making Down syndrome the most common chromosomal condition. About 6,000 babies with Down syndrome are born in the United States each year. It can be concluded that although those with Down syndrome still face significant medical and educational challenges, it is important that the public perception of these individuals accurately reflect their abilities.

Author(s):

Swami KB

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