Draft #1 Of Informative Report

Esmeralda Santa

English 21003, Section M

Professor Matyakubova

13 September 2017

First Draft of Informative Report

                                                                           Down Syndrome

        “1 in every 700 babies are born with down syndrome. This means every year about 6,000 babies are born with it” (Down syndrome society). A person is born with Down syndrome when they have an extra chromosome. This extra chromosome cause mental and physical problems as they develop into adulthood. Down syndrome affects the lives of the people in many ways mentally, physically, and socially. 

What is Downsyndrome?(genetic info)

       Down Syndrome is a condition in which a child is born with an extra chromosome. A person is born with trillion of cells and each one of our cells contain a nucleus that stores our genetic information inside our genes(Gunn, 236). Genes are very important because they contain codes that are in charge of our inherited traits. These codes are in groups that are shaped like rods. Therefore, these rods are called chromosomes. Normally, the nucleus of each cell contains 23 pairs of chromosomes, 12 coming from the mother and 12 coming from the father, but sometimes a child is born with an extra chromosome 21, giving them an excess of genetic material. The addition of the chromosome changes the development of the child and they are born with the characteristics linked to Down syndrome. 

Discovery of Down Syndrome (background info)

       The discovery of Down syndrome has come a long way. After it was discovered, year by year scientist/doctors improved their studies to find an accurate understanding of this condition. Before the late nineteenth century people noticed the people who were born with Down syndrome because they looked different except that they didn’t know it was a condition or how they got it. According to the national down syndrome society, this all changed when an English physician named, John Langdon Down was able to publish a scholarly work that contained a clear explanation of a person with Down syndrome. Therefore, the condition was named after him. As time went by, the medical and science field advanced, allowing doctors to polish up John Down’s explanation. In 1959, Physician Jerome Lejeune was able to determine which extra chromosome children with Down syndrome were born with, chromosome 21.

Types of Down syndrome 

       There are three types of Down syndrome that a child can be born with, trisomy 21 (nondisjunction), translocation, and mosaicism. According the National Down syndrome society, Trisomy 21 refers to the nondisjunction that can occur during cell division.  Nondisjunction is an error and it involves the embryo having three copies of chromosome 21 instead of the typical two. The extra chromosome 21 fails to separate, causing it to be replicated in every cell of the body, as the embryo develops. Trisomy 21 accounts for 95% of the cases of Down syndrome.

      Mosaicism is the mixture of two types of cells. For example, there can be a mixture of a cell that has 46 chromosomes and another cell that has 47 chromosomes. The cells that have the 47 chromosomes are the ones with the extra chromosome 21. Based on many studies, people with mosaicism Down syndrome have fewer characteristic associated with Down syndrome. Also, the people diagnosed with mosaicism are less common only resulting in 1% of the patients.

      Translocation is also less common among Down syndrome patients, only representing about 4%.  This occurs when an extra copy of chromosome 21 attaches itself to chromosome 14 leading to the characteristics of Down syndrome.

Effects of Down syndrome (physical and mentally)

       People with down syndrome are affected both physically and mentally. All children born with Down syndrome have the tendency to have similar characteristics that set them apart from normal people. Although they can have traits that come from their parents such as blue eyes, they still have the Down syndrome physical characteristics. The physical feature include a flat facial profile, small ears, a protruding tongue, and upward slant in the eyes. Besides these common features, some can also have low muscle tone, short height, and small head.

       Children with Down syndrome also face mental issues prohibiting them from thinking, reasoning, and understanding correctly. In the journal Nonverbal Communication skills in Down syndrome children by Peter Mundy, Marian Sigman etc. they write about their findings after they conduct a research in which they try to see how different the non verbal communication skills of Down syndrome kids are from normal kids. It says, “they displayed a significant strength in nonverbal social interaction skills. However, also displayed significant deficiency in  nonverbal requests” (Mundy, 1). These findings show how more slowly the mind of a Down syndrome child works. They take longer to learn the skills that one would posses at a certain age and this prohibits them from participating in society. Due to their lack of mental acknowledgment, Down syndrome people face challenges all their lives doing simple tasks.

       People with Down syndrome live very different lives than people who are born normal. They need special attention and sometimes require special medication, thus they are always dependent of someone. The article At home with Down syndrome and Gender by Sophia Wong she describes the life of her brother who is born with Down syndrome. He has all these dreams of going to law school, having kids, and moving to the city, but in reality she knows that none of these things will ever happen because he has Down syndrome affecting his ability to function by himself. Sophia Wong’s brother is an example of  the many people born with Down syndrome who can not celebrate the many achievements many accomplish. They need special attention because they can sometimes forget to do everyday tasks, can’t cook for themselves, and sometimes show signs of weakness. These things prohibit them from living independently.

      All in all, Down syndrome is a condition that frequently occurs in the world, yet many people lack the knowledge of it’s effects. People born with Down syndrome have physical and mental problems that distinguish them from others.  From the time that Down syndrome was discovered, the research has come a long way but there is still no cure available. For this reason doctors should figure out a way to stop or take away the addition of the extra chromosome, that causes the problem.