Final Informative Report

Esmeralda Santa

English 21003, Section M

Professor Matyakubova

13 September 2017

Final Informative Report

                                    

                                              How Down Syndrome can affect the lives of Children

Abstract

      Often times as people we tend to not care about issues that occur unless it affects us. This is a real issue because we are missing out in increasing our knowledge on topics that go on all around us. One of the issues that many people are not aware of is the people who deal with Down syndrome. Down syndrome is the number one genetic condition that affects many people. It is a condition that has no cure and that greatly affects the lives of people. They tend to have small, squinty eyes, take longer to learn, and dependent on others.  

         “Each year about 6,000 babies born in the U.S have Down syndrome. This means Down syndrome occurs in about 1 out of every 700 babies” (Centers for Disease Control and Prevention). Down syndrome is a condition that is very common in the U.S, yet not many people know how it occurs or how it affects people. This lack of knowledge can create a wall between the disabled and nondisabled people.  A person is born with Down syndrome when they have an extra chromosome. This one extra chromosome is the reason that a person’s life can completely change. Down syndrome affects the lives of the people in many ways: physically, mentally and socially.

Discovery of Down Syndrome 

         Before the late nineteenth century, people never openly talked about Down syndrome, instead people with Down syndrome would be alluded in art, science or literature. According to the National Down Syndrome Society(NDSS), 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. John Down determined that Down syndrome was a genetic condition that involved an extra chromosome. Because of his work, people became more aware of the condition and other scientists became more interested. As time went by, the medical and science field advanced, allowing scientists to polish up John Down’s explanation. In 1959, Physician Jerome Lejeune was able to determine the extra chromosome that causes Down syndrome, it was chromosome number 21(NDSS). 

How does Down syndrome occur?

           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 (NDSS). 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. These rods are called chromosomes.  Each chromosome is made of proteins and DNA. According to Genome.gov “Passed from parents to offspring, DNA contains the specific instructions that make each type of living creature unique”. 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(NDSS). The addition of the chromosome changes the development of the child and they are born with the characteristics linked to Down syndrome. 

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 case.

        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 (NDSS). Also, the people diagnosed with mosaicism is less common only resulting in 1% of the patients (NDSS).

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

The Effects of Down syndrome on Children

               Children with Down Syndrome also face mental issues prohibiting them from thinking, reasoning, and understanding correctly. A study was conducted by a group of scientists in UCLA   School of Medicine in which they wanted to see in what ways Down syndrome affected children when it came to their non-verbal communication skills. They created two groups, the experimental group which consisted of 15 children who had Down syndrome and the control group which also had 15 children, but they had no conditions (Mundy, 236). They had previously hypothesized that the children with Down syndrome would have difficulty completing certain tasks and the results almost proved them correct. The Down syndrome children had positive results when it came to social interaction skills such as teasing or turn-taking but when it came to nonverbal requests (pointing, giving toys back to instructor etc.) they showed deficient (Mundy,235).  These findings show how slowly the mind of a Down syndrome child works. They take longer to learn the skills that one would possess at a certain age and this prohibits them from participating in society. Due to their mental deficiency, Down syndrome people face challenges all their lives doing simple tasks.

              Down syndrome affects the social life of many people.  They need special attention and sometimes require special medication; thus, they are always dependent of someone. Many people might think that a person with Down syndrome have no emotions or are not smart, but on the contrary they have the same feelings as anyone else. Some of the children like school, watching television, or making friends. They can want these things, but because of their condition they face difficulties.  For example, in 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 (Wong, 90). He needs help putting his clothes on such as his shoes and always needs to be reminded to take his medications (Wong 90). Living on his own would never be an option because he would not be able to survive.  Sophia Wong’s brother is an example of the many people born with Down syndrome who cannot 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.

What is the cure?

     As of now, there is no cure for Down syndrome but there are treatments that can aid in caring for someone with Down syndrome. Many parents might think that it is hopeless in trying to help a child with Down syndrome succeed, but it is very important to push the child to their greatest potential because they can accomplish many things. One of the most important times to push the child is early in their childhood. Children with Down syndrome who were exposed to early reading and writing materials as early as 2-1 years old were able to keep up with the grade levels as they grew up whereas children who waited to be taught faced difficulties understanding the material (Gunn, 236). Another key point in helping children with down syndrome is giving them a strong support system. These children need a lot of attention which is why it is important that the parents are there to help them. By providing children with Down syndrome these aids they can succeed. 

Closing

     All in all, people born with Down syndrome deal with physical, mental and social challenges throughout their lives. These challenges tend to make their lives difficult, but they can still live normal lives as long as they are given the chance. Since it was first discovered, year by year scientist/doctors have improved their studies to find an accurate understanding of Down syndrome but there is still no cure available. For this reason, scientist need to figure out a way to stop or take away the addition of the extra chromosome, that causes the problem.

                                                                      Works Cited

• Sophia Isako Wong “At home with Down Syndrome.” Hypatia, Vol.17, No.3, 2002, pp. 89-117.
• Peter Mundy, Marian Sigman, Connie Kasari, Nurit Yirmiya “Non-Verbal Communication    skills Down Syndrome Children.” Child Development, Vol.59, No.1,1998, pp.235-249.
• Pat Gunn, Paul Berry “Education of Infants with Down Syndrome.” European Journal of Psychology of Education, Vol.4, No.2, 1989, pp. 235-246.
• “What Is Down Syndrome.” National Down Syndrome Society, www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/. Accessed 14 Sept. 2017.
• “Chromosomes Fact Sheet.” National Human Genome Research Institute (NHGRI), www.genome.gov/26524120/chromosomes-fact-sheet/. Accessed 21 Sept. 2017.
• “Birth Defects.” Centers for Disease Control and Prevention, Centers for Disease Control and Prevention, 3 Mar. 2016, www.cdc.gov/ncbddd/birthdefects/downsyndrome.html. Accessed 21 Sept. 2017.