The Definition of Down Syndrome

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The definition of Down Syndrome: a genetic condition that results when there is an extra copy of a specific chromosome. But how does this happen? This occurs when an error in cell division results in an extra 21st chromosome, which can be detected before or after birth. Down Syndrome affects 1 in every 700 pregnancies, and the risk is even higher if the mother is over 35 years old.

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It is considered a genetic disorder, but is not hereditary. People with Down Syndrome look different and act different from the average person. These people can have low muscle tone, short stature, a flat nasal bridge, a protruding tongue, eyes that have an upward slant, and/or white spots on their irises. They also experience developmental delays. They usually have mild to moderate intellectual disabilities, it just depends on the person.

This means that they will reach developmental milestones later than their peers. They have trouble learning basic tasks or ideas that are simple for people who do not have a learning disability. People with Down Syndrome often have other health complications. Some include: heart defects, gastrointestinal defects, immune disorders, sleep apnea, obesity, and spinal problems. There is no cure for Down Syndrome. It is considered a chronic illness, because while it cannot be medically treated, you can still live with it. The average life expectancy for a person with Down Syndrome is 60 years old. Only 5% of babies nowadays born with Down Syndrome die by the time of their first birthday. The sooner you begin education with these types of people, the better. While they are slower at learning than most people, that doesn’t mean they are completely incapable. There are ways to manage/treat this by hiring specialists to take care of them.

Helpful specialists include a speech pathologist, a physical therapist, and an occupational therapist, just to name a few. Primary care pediatricians are also a good idea to coordinate and provide routine childhood care. As for the history of this disease, the first person to give it a name was a British physician named John Langdon Down, who in 1866 called it Mongolism. Down was not accepted as the name until the early 1970’s. Professor Jerome Lejeune was the person who discovered the common extra chromosome in 1959. There are many different research organizations for Down Syndrome, but the one I found is called the NICHD, who have supported and conducted research on this disease since its founding.

Some research they have done include development of animal models to help study the syndrome, examination of specific genes and gene groups that could play a role in the syndrome, discovering how maternal age plays a part in the disorder, and figuring out ways to diagnose a child prenatally and postnatally. This group just began a program in June called INCLUDE, which aims to understand the critical health and quality of life needs for people with Down Syndrome, and find scientific discoveries to improve the health, well-being, and neurodevelopment of these people as well. In 2017, the funding for the research of Down Syndrome was around 27 million dollars.

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