Causes and Effects of Down Syndrome - Essay Example

Running Head: DOWN SYNDROME Down Syndrome By Introduction The Down syndrome is a genetic aberration that results in an overproduction of a certain human chromosome. People with DS are easily recognizable and can easily be spotted from the crowd because of distinguishing physical attributes that set them apart from the rest. These same physical attributes also make DS victims almost indistinguishable from one another. “Outwardly slanted eyes, exaggerated fold of skin on the inside of the eye, flat ears set slow on the head, small teeth, relatively short arms and legs” (Birth Defects-Trisomy Disorder 2007) are some of the usual characteristics of DS victim. Theoretically, scientists know how DS came about but not what triggers it although there are so-called risk factors to DS incidences. DS is a condition that needs to be extensively studied not only so that it can be totally eliminated but also to help those born with this genetic defects live the closest to normal existence as possible. The purpose of this paper is to study the causes and effects of Down syndrome including its medical consequences and the accepted appropriate clinical, sociological, nutritional and psychological approaches in dealing with DS victims. References Used For This Study In undertaking the study of this paper, the writer used several books, articles and other references to meet its objective, which is to understand the causes of Down syndrome, anticipate its medical consequences and how to best deal with DS patients, clinically, psychologically and socially. The article Down Syndrome culled from the Parenting and Child health website was vital in giving a complete overview of the genetic disorder. It familiarizes the reader, although rather cursorily, with the disorder. This was important so that a complete overview of the topic can be instantly had without having to read longer accounts initially (2008). This was likewise true with the article Birth Defects-Trisomy Disorders which can be found in the Better Health Channel website (2007). To find out the frequency of DS occurrence vis-à-vis birth rates in Australian, a visit to the WD website and a reading of the article Statistics by Country for Down Syndrome proved helpful although the statistics therein presented were products of mere extrapolation (2008). The article Down Syndrome and Genetic Cleansing by Rachel Mealy provided an idea how Australian mothers can anticipate a DS birth and how Australian pregnant women actually deal with knowledge of imminent DS births (Mealy 2002). The book Prescription for Nutritional Healing: A Practical A-To-Z Reference to Drug Free Remedies Using Vitamins, Minerals, Herbs & Food Supplements by Phyllis Balch provided a more detailed study of the cell processes leading to the Down syndrome and the triplication of the 21st chromosome. The book was also helpful in describing the medical consequences that commonly accompany Down syndrome in birth and in old age. The book reveals two modern-day approaches to Down syndrome: the Nutritional Approach, and; the Developmental Stimulation Approach (Balch 2006 pp 375-376). The book Brief Reference of Student Disabilities – with Strategies for the Classroom was also used in this research because it contained a more detailed discussion of the faulty cell division called ‘nondisjunction’ as well as the three kinds of trisomy disorders: standard trisomy; mosaicism, and; translocation. Also there are diseases discussed in the book which the DS victim is prone to not discussed in other books. In addition to congenital heart defects and gastrointestinal problems discussed in other books, this reference also discussed other ailments like atherosclerosis, ear infections and hearing loss as a result of fluid retention, speech impediments because of tongue enlargement, and atlantoaxial instability or the misalignment of the top vertebrae of the neck. In addition, a section is devoted entirely to the strategies for educators handling students with DS (Nielsen 2002 pp 60-65). Another book Focus on Medical Genetics and Down Syndrome Research discusses the possible use of the drug donepezil to treat Alzheimer’s disease specifically of DS adults (Firthel 2007 pp 101-105). The incidences of epilepsy on persons with DS and the treatment for them is also tackled in the book The Treatment of Epilepsy: Principles and Practice (Wyllie 2005 pp482). On the other hand, the book Diseases and Disorders published by Cavendish was valuable for its detailed discussion of the methods with which pregnant mothers can be tested for DS positive fetuses as well as the ‘treatment’ and lifestyle of the person with DS (2007 p 291). It was also insightful to know the history of DS from the time it was identified by Dr. Down which made a quick and cursory reading of the book Down Syndrome by Philip Margulies helpful (2006 pp 5-9). Research Overview The objective of the research was to delve into the subject of Down syndrome. It is easy to spot people suffering from DS considering the distinctive physical attributes that the victims share and which are recognizable at first glance: flat faces, upwardly slanted eyes, indistinctively shaped heads, undefined chins, and short limbs. The question is how does Down syndrome develop in humans and what causes it and what can be done to help people with the affliction live a normal or close to normal lives? To attain the objectives of the research, the first thing on the agenda was to browse through articles and books that will give a bird’s eye view of what the condition is all about, what causes it, preventive measures, in other words, everything about the subject all at once. A lot of articles of this kind can be found in medical journals and internet websites, articles that although give a comprehensive coverage of the subject do not go into the intricate details. These articles initially show that Down syndrome is a genetic disorder that affects the chromosomal make-up of cells, an over-duplication or triplication of one chromosome in the DNA strand. These cursory readings also show that DS occurs in 1 out of 800 to 1000 births, although the book Diseases and Disorders published by Cavendish sees this statistics as one of the most common disorders worldwide (Cavendish 2007 p 291). Among the risk factors to a DS occurrence are the advanced ages of parents at the time of the conception of the child. Between the parents, it is the maternal age which is heavily favored to be the origin of the risk and the father’s of secondary nature. Another risk factor is the number of childbirths that the mother has gone through – the more childbirths the higher the risk. The comprehensive but briefer articles also state that there is no known treatment to correct DS but there are measures that can be adopted, like special education classes, to help DS victims live normal lives as possible. Ultrasound, amniocentesis and serum sampling are the known methods which can be given to pregnant women to test for DS even before the child is born. The usual solution adopted by Australian pregnant women who have tested positive for DS unborn fetuses is to terminate their pregnancies (Mealy 2000). The books used for this research provide the details not given in the shorter articles in addition to other facts about DS. Dr. John Langdon-Down first identified the syndrome, thus the name Down syndrome, and the singling out of the genetic disorder in the DNA strand which caused the syndrome was made in the late 1950s by Dr. Lejeune. DS was pinpointed to occur at a specific time during cell division which led to the triplication of chromosome number 21, adding, in effect, a lone chromosome to the supposedly 23 pairs. An important aspect of the research is the medical consequences of being afflicted with the Down syndrome. This is vital because it would seem that the genetic disorder does not come simply as a complete package of physical and mental symptoms but accompanied with serious medical ailments like heart condition, ear disorder, blood disorder and the like and even when the DS victim is able to survive these afflictions in childhood and reach old age, there are still diseases that will most likely afflict him/her like Alzheimer’s disease. Finally, the research paved the way for the discovery of modern methods being used today to help DS victims not only survive longer but also function in a productive way. The research has established that DS victims have different metabolic processes and rate compared to normal humans and that they lack or are deficient in certain biochemical elements. One researcher developed a nutritional formula appropriate for DS victims. Subsequently, some researchers caught on with the idea and a big pharmaceutical company located in Canada developed a formula called MSBPlus which is a mixture of vitamins, minerals, amino acids, antioxidants and enzymes that are missing in the biochemical make-up of a person with DS. Another development is the HAP CAPs program where the person suffering from DS is subjected to a multi-treatment by practitioners in different fields like physical therapists, optometrists, psychologists, speech therapists under the supervision of chief physicians. Another modern approach to DS is the Developmental Stimulation Approach where the emphasis is placed on the parents, guardians and the people who has charge of the DS victims. These persons are trained and educated on every aspect of the DS so that they can give the proper attention to the DS victim in their physical, mental and social needs. The book Diseases and Disorders, notes that the mental retardation due to DS are of varying degrees, and special education and early intervention programs have proved to be useful in the past to minimize the mental retardation in DS patients. Also, advances in medical technology have made life easier and longer for DS patients. The open heart technology, for example, have made helped DS patients to live longer than nine years, the average life span of DS afflicted children in the 1930s. Today, many persons afflicted with DS make it into their 50s. And because mental retardation among DS persons varies, generalization or stereotyping should be avoided. Therefore, there is a need to gauge their abilities on a case to case. However, most DS persons suffer from difficulty in focusing on stimuli and thus there may be a need to use visual aids and other strategies to help them focus. The research also revealed that DS persons have short memories which make the use of visual aids and similar strategies necessary not only to capture their attention and interest but also to for memory retention. Another characteristic of DS persons is ‘elopement’ which refers to the propensity of persons with DS to impulsively wander away. Critique and Interpretation Most articles and references on Down syndrome fail to describe the reasons why the triplication of the 21st chromosome of the DNA strand affects the DS patient not only physically but also mentally. Neither do these references explain why there are varying degrees of mental retardation among DS victims although generally the physical abnormalities are almost identical when the same nature of chromosomal defect accompanies it. In addition, all these references do not describe a clear cut prescription for treating the mental retardation of the DS person. No article ever mentions the use of drugs that could treat even partially mental retardation of DS persons unlike for example, the use of such drugs as donepezil in the treatment of Alzheimer’s disease and sodium valproate and topiramate (Firthel 2007 pp 101-105) in epilectic fits (Wyllie 2005 p 482) of patients with DS . The only explanation for this is maybe researchers and scientists have not found a cure for it. Applications of Findings to Practice A complete knowledge of the Down syndrome is very important because it apprises the practitioner of the nature of the disease, the physical and mental limitations of a child or person with DS, the medical consequences of DS that might arise at anytime at whatever age, and the best approaches and treatment to ease or minimise the mental as well as physical retardation that accompany DS. It is vital that a practitioner understands that DS is attended by high susceptibilities to certain kind of ailments so that he/she will be closely watching for any complications that might arise in the event that such practitioner is assigned to the care of a DS patient. This is important so that any possible complications can be anticipated and can be arrested before they get full blown and when these conditions have become severe and saving the DS patient’s life becomes doubly difficult. For example, because a DS child is susceptible to gastrointestinal disorders, the practitioner must closely monitor the DS patient to make sure that the correct diet is being implemented. Likewise, a close watch for symptoms of heart disease complications must be made because a DS child or adult is especially susceptible to it. In addition, practitioners should be aware of the different metabolic processes of DS patients from the normal persons. Knowledge of DS will alert the practitioner of the mental as well as the physical shortcomings and weaknesses of a person who is afflicted with the Down syndrome. It is already established that DS patients have slower metabolic rates than normal persons and knowledge of this shortcoming will also help the practitioner watch for and suggest the kind of diet that will take this fact into consideration. Understanding the perceptual-motor limitations of the DS patient will also guide the practitioner in anticipating the needs of the DS patient. For example, DS persons have varied mental retardation and what may be applicable approach to one may not work for another. Despite the tendency to stereotype DS patients, the practitioner must keep in mind that these persons have different IQ levels and therefore dealing with them must be made on a case to case basis depending on a DS victim’s capacity. This finding is significant because the usual impression is that DS persons have identical mental capacity in the same way that they have almost identical physical structures. As professionals, it is also important to have a background on pharmacological trends in the treatment of the many ailments that accompany the genetic disorder specially treatments, including drugs, that are specific to complications which accompany DS. Conclusion Down syndrome is a condition that carries with it the obvious stigma of physical abnormality and mental retardation. In addition, the genetic disorder is accompanied with susceptibilities to several numbers of deadly diseases like heart condition, atherosclerosis, visual impairment, leukemia and Alzheimer’s disease. On top of these is the inability of the DS patient to metabolise normally. A patient with a Down syndrome obviously requires close watch and tender care. This paper was undertaken to help the practitioner understand the nature of Down syndrome and thus understand the needs of the DS patient. Understanding DS, its causes and medical consequences as well as learning the newest advances in the treatment of and dealing with DS patients will apprise the practitioner of the things with which to keep a close watch on, like symptoms that might develop and complicate the condition of the DS patient. This research also provides the practitioner with a good idea of the recent pharmacological approaches to the treatment of ailments and diseases which are adjunct to DS. References (2007). Birth defects - trisomy disorders. Better Health Channel. http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Birth_defects_trisomy_disorders (2008). Down Syndrome. Parenting and Child Health. http://www.cyh.com/HealthTopics/HealthTopicDetails.aspx?p=114&np=306&id=1891 (2008). Statistics by Country for Down Syndrome. WD. http://www.wrongdiagnosis.com/d/down_syndrome/stats-country.htm Balch, Phyllis A. (2006). Prescription for Nutritional Healing: A Practical A-To-Z Reference to Drug-Free Remedies Using Vitamins, Minerals, Herbs & Food Supplements. Avery, pp 375-376. Cavendish, Marshall. (2007). Diseases and Disorders. Cavendish, P 291 Firthel, Richard A. (2007). Focus on medical genetics and Downs syndrome research. Nova Publishers, pp 101-105. Lindee, Susan. (2005). Moments of truth in genetic medicine. JHU Press, pp. 103-104. Nielsen, Lee. (2002). Brief Reference of Student Disabilities-- With Strategies for the Classroom: With Strategies for the Classroom. Corwin Press, pp 60-65 Margulies, Phillip. (2006). Down Syndrome. The Rosen Publishing Group, pp. 5-9 Mealey, Rachel. (2002). Downs Syndrome and genetic cleansing. PM. http://www.abc.net.au/pm/stories/s113341.htm Wyllie, Elaine & Gupta, Ajay & Lachhwani, Deepak K. (2005). The Treatment of Epilepsy: Principles and Practice. Lippincott Williams & Wilkins, pp. 482. Read More