Downs Syndrome Essay Research Paper IntroductionIn the free essay sample

Downs Syndrome Essay, Research Paper IntroductionIn the United States about one in every 1000 unrecorded births is a kid with Downs Syndrome. Downs Syndrome affects all races and genders. It is caused by excess familial stuff on the 21st chromosome. There are three different types of Downs Syndrome known to adult male today. The first instance of reported was in the late 1950? s, but the status was identified in the late 1960? s. In most instances it is simple to place an person with Downs Syndrome. In most instances the facial characteristics give it off, but today with new engineering it is easy to do these characteristics less noticeable. While there is no? remedy? for Downs Syndrome, there are interventions that can assist patient? s unrecorded full and happy lives. These interventions are non proven to be one hundred per centum affective, but they have helped many patients to populate happier, more comfy lives. The Medical jobs are involved with Downs Syndrome are more terrible in Downs so they would be in that of a healthy kid. What is Downs Syndrome? Named for a British Doctor, John Langdon Down, who foremost clinically identified the status in 1866, Downs Syndrome is a familial status caused by excess familial cistrons from the 21st chromosome ( figure 1 ) . It is unknown what causes the excess chromosome, but tit green goodss excess proteins, and when the excess chromosome is present the production of the proteins are doubled and causes the typical Downs Syndrome characteristics. ( ? The Story of Downs Syndrome? ) What are the Different Types of Downs Syndrome? Figure 2 Downs Syndrome, sometimes umpire to as DS or Downs, can happen in three different signifiers, Trisomy 21 ( figure 2 ) , Translocation, and Mosiac. The most common of the three, Trisomy 21, impacting 95 per centum of patients with Downs Syndrome is caused by an excess 21st chromosome. Normally a individual has 23 braces of chromosomes, each made up of cistrons, but in Trisomy 21 ( nondisjunction ) the individual has three figure 21 chromosomes insteadad of two. This occurs when the formation of the egg or sperm a double-dose of the chromosome goes to the egg or sperm. Normally when the egg or sperm are organizing they split so that merely one chromosome is in the egg or sperm, but in trisomy 21 they wear? t split doing the person to hold more chromosomes so they need. In the 2nd signifier, translocation, which occurs in about three or four per centum of Downs instances. In this signifier an excess portion of chromosome figure 21 articulations with another chromosome. In half of Downs instances with translocation one of the parents? cavities an excess 21st chromosome in a balanced or concealed signifier. In the 3rd signifier, mosaic, the person with Downs has an excess 21st chromosome merely in some of the cells. This nevertheless, is highly rare and lone affects about 2 % of the Downs instances. What are the odds of holding a kid with Downs Syndrome? The odds of holding a kid with DS are assorted. Anywhere from 1 in 800 unrecorded births to 1 in 1100 unrecorded births. There is no greater opportunity of holding a kid with Downs associated with peculiar race, civilization or geographic part. In recent surveies, nevertheless, it has been proven that most Downs Syndrome instances are associated to a female parent? s age. The odds of holding a kid with Downs Syndrome increases as the age of the female parent additions in which she reproduces. A female parent who is 25 has about a 1 in 1400, 35 is a 1 in 350, but as the female parent reaches 40 her opportunities addition to about 1 in every 100 unrecorded births. Another factor is if the parent already has Trisomy 21 it is 1 in 100 at any age. What is the birthrate rate in Downs Syndrome? The opportunities of a adult female with Downs Syndrome going pregnant is about 50 % , nevertheless, most males are unfertile and can? t have kids. In history there is one narrative of a adult male bring forthing a gestation and the female parent had Downs Syndrome every bit good. The Pregnancy miscarried about halfway through. What are some of the interventions for downs? While Downs Syndrome can? t be cured or outgrown in any manner supplying good medical attention can modify the affects. None of the undermentioned interventions have been proven 100 % affectional, many people have said that they help them a small, but some besides belief that this is because they have a positive mentality because there may be some hope. Some interventions include thyroid, endocrine, pituitary infusion, glutimic acid, dimthyl sulfoxide, sica cell therapy, five hydroxythptophan, assorted vitamin and mineral therapies, and most late, nootropic drugs like piracetam. The most unsafe out of all these interventions is the sicca cell therapy. The vitamin and mineral therapies can assist to modulate a batch of organic structure maps and that is why it is most normally used. Can Downs Syndrome patients be educated? With the right instruction and attending of parental figures the person with Downs Syndrome can larn to make things such as read. Teaching them nevertheless takes a great sum of forbearance. Downs carries holds such as in larning countries. Many people have learned to walk, talk, swim, sit a motorcycle, read and unrecorded lives as most other kids do. The earlier a kid is taught the better the opportunity of a kid larning to make things such as read. Adults can make these things excessively, but it will most likely return longer and necessitate a greater sum of clip and forbearance. What are Commom features or characteristics linked to toss off? Some of the most Commom characteristics of an person with downs are: hapless musculus tone, slanted eyes with creases of tegument at the interior corners, hyperflexablitliy, short wide custodies with a fold across the thenar or thenar, wide pess with short toes, level span of the nose, little caput, little oral cavity gap ( Figure 3 ) every bit good as high-pitched calls as an baby. Even with these characteristics being common it is really rare to happen a individual with all or most of the characteristics. Aside from these physical characteristics most Downs Syndrome instances are at a lower rational development degree so other childs their age. Children with Downs Syndrome normally have a batch of wellness related jobs such a lower abode to infection, which makes them more prone to repertory jobs. Hearing and sight is besides another issue in Downs Syndrome. They normally are close or farsighted or cross-eyed, moderate hearing loss and address trouble. In particulars what do these characteristics mean? Low musculus tone or, hypotnia means that the musculus appears to be relaxed, or floppy. This will impact motion of the organic structure. Skin is one of the most sensitive countries of an person with Downs Syndrome. The tegument is just, and is to annoyance or checking. Their hair is normally really short, and all right, every bit good as sparse. What are the most common tegument jobs? As a newborn they normally will hold bluish custodies and pess for several yearss after birth. Another common tegument job among newborn babes is a blue moult of the tegument skin ( marmarata ) . This instance of tegument job is common in all babes but by and large last longer in ds babes. Chronic tegument conditions are common in Downs Syndrome. It causes dry, unsmooth tegument. It is associated with a vitamin A lack. This status is best managed best with nondrying soaps, adding oils to bath H2O, and utilizing moisturizers daily. What is the life anticipation of a kid with Downs Syndrome? Generally Downs Syndrome reduces a individual? s life by about 10 to 20 old ages. There have been people with Downs Syndrome who have lived good into their 80? s. Because Downs Syndrome patients age prematurely they normally have medical issues which causes the to decease at an earlier age. Are people with Down Syndrome at high hazard of developing Alzheimer # 8217 ; s disease subsequently in life? It would depend on your position of Alzheimer? s. Although it is true that some of the Alzheimer-like alterations in the physical encephalon occur in most, if non all, people with Down Syndrome as they age, the clinical visual aspect of dementedness does non ever occur. The latest thought is that because of premature aging, Alzheimer # 8217 ; s dementia that does develop comes on at an earlier age but that the incidence of dementedness may or may non be increased. It would be incorrect to presume that an grownup with Down Syndrome who appears to hold developed dementedness does in fact have Alzheimer # 8217 ; s dementedness. There are many medical and psychiatric conditions that may mime dementedness. This is peculiarly true if the person is less than 40 or 50 old ages of age. ( National Downs Syndrome Assoc. ) How should a parent and physician attention for a kid with Downs? Neonatal periodDirectly from birth the first topographic point a Downs Syndrome babe should be taken is to so exam room for diagnosing to find minute re serious jobs such as a bosom status. The first defects that should be tested for are largely bosom related. Heart defects are highly common in Downs Syndrome babes. Another thing that should be checked is for inborn disruption of the hips. Extra attention should be taken during the usual neonatal scrutiny. In approximately 13 % of Downs Syndrome neonates there are already version jobs with inborn cataracts. The remotion of this early is really important. The Oklahoman removed the better the babes vision is. ( ? How to handle people with Downs Syndrome? ) InfancyIt is highly of import to watch that the kid during babyhood doesn? t develop any sort of ictus jobs. A kid with Downs Syndrome is 10 % more likely to hold shanghaiers during the first twelvemonth of life so a kid without Downs Syndrome. It is besides of import that the early intercession plans are looked into. Early intercession is a plan that is place or office based and consists of address therapy and physical therapy. ChildhoodAt this point in life the holds become more apparent. The kid is normally ready to come in school at the same age of a kid without Downs Syndrome, but milestones most likely will non be reached until after the kids of regular ages reach them. Again in the affair of what category to put a kid in is wholly dependent on the badness of the Downs Syndrome. Frequent physician visits will assist the kid in dental attention, medical issues, etc. AdulthoodBy the age of 25 an person with Downs Syndrome is normally populating out of the place, whether in a place with other Downs Syndrome people or in a regular independent environment can normally take attention of themselves for the most portion. Normally a parental defender is appointed in the instance of medical issues or in the case that the Downs Syndrome patient and no longer attentions for themselves. Celebrated people with DownsOne of the most celebrated 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 traveling through life? s battles with Downs Syndrome. The show talked many issues such as homelessness, AIDS, Drunk Driving, and disablements. Chris was non originally considered for the function. He was chosen after questioning two other kids with Downs Syndrome. They were to immature or non what the projecting manager was looking for. One of the two suggested that they try Chris. His dream was to be an histrion, but with Downs Syndrome it seemed that his dreams were traveling to be shattered. They viewed his hearing tape and they knew he was the individual they wanted fro the function. They spent more clip on this one-hour situation comedy so any other. It was highly difficult to the lines perfect because they had to take many cuts. Chri s had a difficult clip retrieving his lines, but when he did the scenes were perfect. Chris is an illustration of a high-functioning Downs Syndrome patient. He held a occupation at place and graduated from high school. Support groupsOne thing parents can make to assist a kid with Downs Syndrome to go a more societal kid is a support group. There a support groups that are on-line every bit good as in schools. Peoples get together and discourse the issues they are confronting with their kids and how they handle these state of affairss. They besides let the kids interact with one another. Interaction with other kids with Downs Syndrome is of import because it helps the kid to understand that there are other kids with Downs Syndrome. Parents besides need these groups to understand all the things their kids are traveling through. Most support groups are held at a parent? s house to assist both the kid and parent fell more comfy with the group. What kinds of holds do Downs Syndrome patients hold? During childhood normally have speech hindrances or linguistic communication jobs of some sort. They besides may hold rational holds. This is why it is of import for the kid to hold address healers and attend early intercession get downing early in life. What is antenatal proving? At the clip there are many different types of antenatal proving to find if the kid will hold Downs Syndrome. These trials include amniocentesis, chronic villus sampling, and transdermal umbilical blood sampling. Before undergoing any of these diagnostic trials, it is of import that patients and their households get elaborate familial guidance. Amniocentesis is the remotion and analysis of a little sample of foetal cells from the amnionic fluidis. This can? t be done until the 14th to 18th hebdomad of gestation. Chorionic villus trying is conducted at 9 to 11 hebdomads of Pregnancy and involves pull outing a bantam sum of chorionic villi, tissue extensions that finally develop into a placenta. The tissue can be tested for the presence of excess stuff from chromosome 21. And another type, transdermal umbilical blood sampling is the most accurate method and can be used to corroborate the consequences of CVS or amniocentesis. This can non be performed until lat er in the gestation, during the 18th to 22nd hebdomads, and carries the greatest hazard of abortion. New antenatal diagnostic techniques are presently being developed. The NICHD has supported the development of a new, noninvasive trial performed during the first trimester of gestation, which samples and separates foetal cells from the female parent # 8217 ; s blood. The end is to compare the truth of this type of cellular degree analysis with consequences obtained by amniocentesis or CVS. ( Prenatal showing for Downs Syndrome ) Downs Syndrome in the hereafter? At the clip it is being disputed whether Downs Syndrome Patients would profit from medical intercession that includes aminic acid addendums and a drug known as piracetam. Piracetam is a type of psychotropic drug. Some believe that it may better cognitive map. However, there have been no controlled surveies utilizing Piracetam to handle Down syndrome in the United States that shows its efficiency. Down syndrome research workers have developed a mouse theoretical account to analyse the developmental effects of Down syndrome. Mice are used because a big stretch of mouse chromosome 16 has many cistrons in common with those on human chromosome 21. Analyzing these theoretical accounts at changing phases so development will heighten our basic apprehension of down syndrome and ease the development of effectual intercessions and intervention schemes. ( Future Directions in Down Syndrome Research ) ConclusionDowns is a good dispersed familial upset that does non know apart against race or genders. The lone thing that is known about what causes the characteristics is the excess sum of proteins that the 21st chromosome green goodss. Another major point that plays a function in Downs Syndrome is the female parent? s age. The greater age the greater the opportunities of bring forthing a kid with the familial upset. The lone major thing that a parent can make if they have a kid with Downs Syndrome the best thing you can make is to fall in a support group and larn every bit much as you can about Downs Syndrome from other parents and kids with experience with Downs Syndrome. The best thing that can be done for a kid with Downs Syndrome is to love them unconditionally and do regular physician visits to look into on the bosom, eyes, ears and tegument. BibliographyInternetKing, David. Familial Diseases: Down Syndrome. 14 March, 2002. Trumble, Stephen. How to Treat Peoples 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 Preventive Medicine Approach. Marcel Dekker, Inc, NY, 1992. Hernandez D and Fisher EMC. Down syndrome genetic sciences: unknoting a multifactorial upset. Hum. mol. Genet. , 5: 1411-1416, 1996. Shapiro, BL. Whither Down syndrome critical parts? Hum Genet 99: 421-423, 1997. Saenz, Rebecca. Primary attention of babies and immature kids with Down syndrome, American Family Physician, volume 59, figure 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 attention of babies and immature kids with Down syndrome, American Family Physician, volume 59, figure 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.