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Example research essay topic: Downs Syndrome Genetic Disorder - 1,468 words

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... y common in Downs Syndrome babies. Another thing that should be checked is for congenital dislocation of the hips. Extra care should be taken during the usual neonatal examination.

In about 13 % of Downs Syndrome newborns there are already version problems with congenital cataracts. The removal of this early is very crucial. The sooner removed the better the babies vision is. (How to treat people with Downs Syndrome) Infancy It is extremely important to watch that the child during infancy doesnt develop any kind of seizure problems. A child with Downs Syndrome is 10 % more likely to have seizers during the first year of life then a child without Downs Syndrome. It is also important that the early intervention programs are looked into. Early intervention is a program that is home or office based and consists of speech therapy and physical therapy.

Childhood At this point in life the delays become more evident. The child is usually ready to enter school at the same age of a child without Downs Syndrome, but milestones most likely will not be reached until after the children of regular ages reach them. Again in the matter of what class to place a child in is entirely dependent on the severity of the Downs Syndrome. Frequent doctor visits will help the child in dental care, medical issues, etc. Adulthood By the age of 25 an individual with Downs Syndrome is usually living out of the home, whether in a home with other Downs Syndrome people or in a regular independent environment can usually take care of themselves for the most part. Usually a parental guardian is appointed in the case of medical issues or in the instance that the Downs Syndrome patient and no longer cares for themselves. Famous people with Downs One of the most famous people with Downs Syndrome is Chris Burke (see figure 4, second from the right) He played Charles Core Thacher on the ABC hit sitcom Life Goes On.

In The show he played a high school Boy going through lifes struggles with Downs Syndrome. The show talked many issues such as homelessness, AIDS, Drunk Driving, and disabilities. Chris was not originally considered for the role. He was chosen after interviewing two other children with Downs Syndrome.

They were to young or not what the casting director was looking for. One of the two suggested that they try Chris. His dream was to be an actor, but with Downs Syndrome it seemed that his dreams were going to be shattered. They viewed his audition tape and they knew he was the person they wanted fro the role. They spent more time on this one-hour sitcom then any other. It was extremely hard to the lines perfect because they had to take many cuts.

Chris had a hard time remembering his lines, but when he did the scenes were perfect. Chris is an example of a high-functioning Downs Syndrome patient. He held a job at home and graduated from high school. Support groups One thing parents can do to help a child with Downs Syndrome to become a more social child is a support group. There a support groups that are online as well as in schools. People get together and discuss the issues they are facing with their children and how they handle these situations. They also let the children interact with one another.

Interaction with other children with Downs Syndrome is important because it helps the child to understand that there are other children with Downs Syndrome. Parents also need these groups to understand all the things their children are going through. Most support groups are held at a parents house to help both the child and parent fell more comfortable with the group. What kinds of delays do Downs Syndrome patients have? During childhood usually have speech impediments or language problems of some kind. They also may have intellectual delays. This is why it is important for the child to have speech therapists and attend early intervention beginning early in life. What is prenatal testing? At the time there are many different types of prenatal testing to determine if the child will have Downs Syndrome. These tests include amniocentesis, chronic villus sampling, and percutaneous umbilical blood sampling.

Before undergoing any of these diagnostic tests, it is important that patients and their families get detailed genetic counseling. Amniocentesis is the removal and analysis of a small sample of fetal cells from the amniotic fluids. This cant be done until the 14 th to 18 th week of pregnancy. Chorionic villus sampling is conducted at 9 to 11 weeks of Pregnancy and involves extracting a tiny amount of chorionic villi, tissue extensions that eventually develop into a placenta.

The tissue can be tested for the presence of extra material from chromosome 21. And another type, percutaneous umbilical blood sampling is the most accurate method and can be used to confirm the results of CVS or amniocentesis. This cannot be performed until later in the pregnancy, during the 18 th to 22 nd weeks, and carries the greatest risk of miscarriage. New prenatal diagnostic techniques are currently being developed. The NICHD has supported the development of a new, noninvasive test performed during the first trimester of pregnancy, which samples and separates fetal cells from the mother's blood.

The goal is to compare the accuracy of this type of cellular level analysis with results obtained by amniocentesis or CVS. (Prenatal screening for Downs Syndrome) Downs Syndrome in the future? At the time it is being disputed whether Downs Syndrome Patients would benefit from medical intervention that includes amino acid supplements and a drug known as piracetam. Piracetam is a type of psychoactive drug. Some believe that it may improve cognitive function. However, there have been no controlled studies using Piracetam to treat Down syndrome in the United States that shows its efficiency. Down syndrome researchers have developed a mouse model to analyze the developmental consequences of Down syndrome. Mice are used because a large stretch of mouse chromosome 16 has many genes in common with those on human chromosome 21.

Studying these models at varying stages so development will enhance our basic understanding of down syndrome and facilitate the development of effective interventions and treatment strategies. (Future Directions in Down Syndrome Research) Conclusion Downs is a well spread genetic disorder that does not discriminate against race or genders. The only thing that is known about what causes the features is the extra amount of proteins that the 21 st chromosome produces. Another major point that plays a role in Downs Syndrome is the mothers age. The greater age the greater the chances of producing a child with the genetic disorder. The only major thing that a parent can do if they have a child with Downs Syndrome the best thing you can do is to join a support group and learn as much as you can about Downs Syndrome from other parents and children with experience with Downs Syndrome.

The best thing that can be done for a child with Downs Syndrome is to love them unconditionally and make regular doctor visits to check on the heart, eyes, ears and skin. Bibliography Internet King, David. Genetic Diseases: Down Syndrome. 14 March, 2002. < web diseases / downs . html> Trouble, Stephen. How to Treat People with Down Syndrome. 1993. < web > Royce, Brenda Scott. Life Goes On. 2001. < web >> Lesbian, Len.

Trisomy 21: The Origin Of Downs Syndrome. September 20, 2000. <
web >> Books Coleman, Mary and Rogers. Medical Care in Down Syndrome: A Preventative Medicine Approach. Marcel Dekker, Inc, NY, 1992.

Hernandez D and Fisher EMC. Down syndrome genetics: unravelling a multi factorial disorder. Hum. mol. Genet. , 5: 1411 - 1416, 1996. Shapiro, BL.

Whither Down syndrome critical regions? Hum Genet 99: 421 - 423, 1997. Saenz, Rebecca. Primary care of infants and young children with Down syndrome, American Family Physician, volume 59, number 2, January 15, 1999, pages 381 - 390.

Harold, Patterson, D. (Eds. ). Down Syndrome: A Promising Future, Together. New York: Wiley Liss, 1998. Saenz, Rebecca.

Primary care of infants and young children with Down syndrome, American Family Physician, volume 59, number 2, January 15, 1999, pages 381 - 390. Stray-Gunderson, K. Babies with Down Syndrome. Rockville, M. D. , Woodbine House, 1995. National Down Syndrome Society, About Down Syndrome, New York, N.

Y. , December 1999.


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