Downs Syndrome Essay, Research Paper
IntroductionIn the United States about one in every 1000 live births is a child with Downs Syndrome. Downs Syndrome affects all races and genders. It is caused by extra genetic material on the twenty-first chromosome. There are three different types of Downs Syndrome known to man today. The first case of reported was in the late 1950?s, but the condition was identified in the late 1960?s. In most cases it is simple to identify an individual with Downs Syndrome. In most cases the facial features give it away, but today with new technology it is easy to make these features less noticeable. While there is no ?cure? for Downs Syndrome, there are treatments that can help patient?s live full and happy lives. These treatments are not proven to be one hundred percent affective, but they have helped many patients to live happier, more comfortable lives. The Medical problems are involved with Downs Syndrome are more severe in Downs then they would be in that of a healthy child.
What is Downs Syndrome?Named for a British Doctor, John Langdon Down, who first clinically identified the condition in 1866, Downs Syndrome is a genetic condition caused by extra genetic genes from the twenty-first chromosome(figure 1). It is unknown what causes the extra chromosome, but tit produces extra proteins, and when the extra chromosome is present the production of the proteins are doubled and causes the typical Downs Syndrome features. (?The Story of Downs Syndrome?)
What are the Different Types of Downs Syndrome? Figure 2
Downs Syndrome, sometimes refereed to as DS or Downs, can occur in three different forms, Trisomy 21 (figure 2), Translocation, and Mosiac. The most common of the three, Trisomy 21, affecting 95 percent of patients with Downs Syndrome is caused by an extra 21st chromosome. Usually a person has twenty-three pairs of chromosomes, each made up of genes, but in Trisomy 21 (nondisjunction) the person has three number 21 chromosomes instead\ad of two. This occurs when the formation of the egg or sperm a double-dose of the chromosome goes to the egg or sperm. Usually when the egg or sperm are forming they split so that only one chromosome is in the egg or sperm, but in trisomy 21 they don?t split causing the individual to have more chromosomes then they need.
In the second form, translocation, which occurs in about three or four percent of Downs cases. In this form an extra part of chromosome number 21 joins with another chromosome. In half of Downs cases with translocation one of the parents? caries an extra 21st chromosome in a balanced or hidden form.
In the third form, mosaic, the individual with Downs has an extra 21st chromosome only in some of the cells. This however, is extremely rare and only affects about 2% of the Downs cases.
What are the odds of having a child with Downs Syndrome?The odds of having a child with DS are various. Anywhere from 1 in 800 live births to 1 in 1100 live births. There is no greater chance of having a child with Downs associated with particular race, culture or geographic region. In recent studies, however, it has been proven that most Downs Syndrome cases are associated to a mother?s age. The odds of having a child with Downs Syndrome increases as the age of the mother increases in which she reproduces. A mother who is 25 has about a 1 in 1400, 35 is a 1 in 350, but as the mother reaches 40 her chances increase to about 1 in every 100 live births. Another factor is if the parent already has Trisomy 21 it is 1 in 100 at any age.
What is the fertility rate in Downs Syndrome?The chances of a woman with Downs Syndrome becoming pregnant is about 50%, however, most males are sterile and can?t have children. In history there is one story of a man producing a pregnancy and the mother had Downs Syndrome as well. The Pregnancy miscarried about halfway through.
What are some of the treatments for downs?While Downs Syndrome can?t be cured or outgrown in any way providing good medical care can modify the affects. None of the following treatments have been proven 100% affective, many people have said that they help them a little, but some also belief that this is because they have a positive outlook because there may be some hope. Some treatments include thyroid, hormone, pituitary extract, glutimic acid, dimthyl sulfoxide, sica cell therapy, five hydroxythptophan, various vitamin and mineral therapies, and most recently, nootropic drugs like piracetam. The most dangerous out of all these treatments is the sicca cell therapy. The vitamin and mineral therapies can help to regulate a lot of body functions and that is why it is most commonly used.
Can Downs Syndrome patients be educated?With the right education and attention of parental figures the individual with Downs Syndrome can learn to do things such as read. Teaching them however takes a great amount of patience. Downs carries delays such as in learning areas. Many people have learned to walk, talk, swim, ride a bike, read and live lives as most other children do. The earlier a child is taught the better the chance of a child learning to do things such as read. Adults can do these things too, but it will most likely take longer and require a greater amount of time and patience.
What are Commom characteristics or features linked to downs?Some of the most Commom features of an individual with downs are: poor muscle tone, slanted eyes with folds of skin at the inner corners, hyperflexablitliy, short broad hands with a crease across the palm or palms, broad feet with short toes, flat bridge of the nose, small head, small mouth opening (Figure 3) as well as high-pitched cries as an infant. Even with these features being common it is very rare to find a person with all or most of the features. Aside from these physical features most Downs Syndrome cases are at a lower intellectual development level then other kids their age. Children with Downs Syndrome usually have a lot of health related problems such a lower residence to infection, which makes them more prone to repertory problems. Hearing and sight is also another issue in Downs Syndrome. They usually are near or farsighted or cross-eyed, moderate hearing loss and speech difficulty.
In specifics what do these features mean?Low muscle tone or, hypotnia means that the muscle appears to be relaxed, or floppy. This will affect movement of the body. Skin is one of the most sensitive areas of an individual with Downs Syndrome. The skin is fair, and is to irritation or cracking. Their hair is usually very short, and fine, as well as sparse.
What are the most common skin problems?As a newborn they usually will have blue hands and feet for several days after birth. Another common skin problem among newborn babies is a bluish molting of the skin cutis (marmarata). This case of skin problem is common in all babies but generally last longer in ds babies. Chronic skin conditions are common in Downs Syndrome. It causes dry, rough skin. It is associated with a vitamin A deficiency. This condition is best managed best with nondrying soaps, adding oils to bath water, and using moisturizers daily.
What is the life expectancy of a child with Downs Syndrome?Generally Downs Syndrome reduces a person?s life by about 10 to 20 years. There have been people with Downs Syndrome who have lived well into their 80?s. Because Downs Syndrome patients age prematurely they usually have medical issues which causes the to die at an earlier age.
Are people with Down Syndrome at high risk of developing Alzheimer’s disease later in life?It would depend on your view of Alzheimer?s. Although it is true that some of the Alzheimer-like changes in the physical brain occur in most, if not all, people with Down Syndrome as they age, the clinical appearance of dementia does not always occur. The latest thinking is that because of premature aging, Alzheimer’s dementia that does develop comes on at an earlier age but that the incidence of dementia may or may not be increased. It would be wrong to assume that an adult with Down Syndrome who appears to have developed dementia does in fact have Alzheimer’s dementia. There are many medical and psychiatric conditions that may mimic dementia. This is particularly true if the individual is less than 40 or 50 years of age. (National Downs Syndrome Assoc.)
How should a parent and doctor care for a child with Downs?Neonatal periodDirectly from birth the first place a Downs Syndrome baby should be taken is to then exam room for diagnosis to determine more serious problems such as a heart condition. The first defects that should be tested for are mostly heart related. Heart defects are extremely 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?)
InfancyIt is extremely important to watch that the child during infancy doesn?t 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.
ChildhoodAt 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.
AdulthoodBy 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 DownsOne of the most famous people with Downs Syndrome is Chris Burke (see figure 4, second from the right) He played Charles ?Corkey? Thacher on the ABC hit sitcom Life Goes On. In The show he played a high school Boy going through life?s 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 groupsOne 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 parent?s 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 fluidis. This can?t be done until the 14th to 18th 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 18th to 22nd 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)
ConclusionDowns 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 21st chromosome produces. Another major point that plays a role in Downs Syndrome is the mother?s 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.
BibliographyInternetKing, David. Genetic Diseases: Down Syndrome. 14 March, 2002.
Trumble, Stephen. How to Treat People with Down Syndrome. 1993.
Royce, Brenda Scott. Life Goes On. 2001.
Leshin, Len. Trisomy 21: The Origin Of Downs Syndrome. September 20, 2000.
BooksColeman, 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 multifactorial 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.
Hassold, 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.