Thursday, July 10, 2014

Down Syndrome

First described by John Langdon Down in 1866, Down's Syndrome (DS) is the most commonly occurring chromosomal disorder in the world. DS effects an estimated 400,000 Americans. Meaning that 1 in 691 babies are born with DS and that 6,000 affected babies are born every year. 
DS is also known as trisomy 21 since the disorder occurs when the 21st chromosome is repeated. Human body cells normally possess 46 chromosomes. Non-body cells, know as sex-cells or gametes (like sperm and eggs) contain 23 chromosomes. When egg and sperm fertilize, they produce a cell (known as a zygote) with 46 chromosomes.  When DS occurs, the 21st chromosome from one of the parents is repeated. This in turn causes one parent to give 24 chromosomes while the other gives the normal 23 chromosomes. Consequently, there are an abnormal 47 chromosomes in the zygote.

Some physical signs of Down syndrome include…  
·         small chin,
·         slanted eyes,
·         a flattened nose,
·         only one crease in the palms
·         big gap between big toe and rest of the toes
·         low muscle tone, and more.
Note that affected individuals may express all/some of the characteristics listed


Those with Down's Syndrome are born with disabilities involving intellect. Depending on the severity of the Syndrome, the IQ of a patient ranges from 20-70. Additionally, language disabilities are common (stuttered, slurred or other irregular forms of speech), consequently; many victims will lose the ability to speak soon after age 30.  

Also, individuals with Down's Syndrome have a higher chance of getting
·         Epileptic seizures
·         Alzheimer’s
·         Sleep Apnea
·         Leukemia
·         Autism and more


The life of a person with Down's Syndrome is no doubt a tough one. However, many improvements have been made. For one, the lifespan of an individual with DS has gone from 25 up to 60 from 1983. Although most graduate successfully from high school, as of now, few receive paying jobs. But life for people with Down's Syndrome is improving with new programs in colleges that offer hope, and laws that have been passed to ensure that those with DS will be able to have a full and normal education.