Disorders Of Development And Learning - Research Paper Example

 1 Disorders Of Development And Learning Introduction The word Down Syndrome almost always send shivers of trepidation and concern to most parents because of the universal dread of conceiving a ‘mongoloid baby’, which is how it was demeaningly called in the past. A source of the anxiety and fear it generates is that parents are usually at a loss on what to do, what treatments to prescribe, how to raise the child afflicted with it whenever unfortunately they beget one. But the worst effect is that most parents are eaten with guilt when they perceive the unnatural condition that their child gets himself or herself into. For mothers who are detected by means of the latest detection machines to be carrying a fetus with a Down Syndrome, another source of dilemma crops up i.e. whether to abort the child or not. This paper defines and describes Down Syndrome, its causes with emphasis on the chromosomal aberrations that generate the defects in the child, what defects may the child suffer, how it affects the child and how to raise a child affected with the disease. The Down Syndrome Down Syndrome also called Trisomy 21 is a chromosomal disorder in which the presence of an extra genetic material causes the retardation or delay in the development of a child afflicted with it. At the outset, it is stressed that it is not a mental illness. In fact some have attained fame as actors, musicians, painters and other artists. BAFTA award-winning actress Paula Sage has DS. So do other actors like Notes on a Scandal starrer Max Lewis; Touched By An Angel star Chris Burke; Stephane Ginnsz of Duo fame; Tommy Jessop of Coming Down The Mountain. Miguel Tomasin of the Argentinian rock band Reynols admitted being afflicted with DS. Michael Johnson, Raymond Hu and Sujeet Desai achieved fame as painters. Desai, an honor 2 student graduate in Music and Human Services, works as a musician, playing trombone, violin, flute and piano and is happily married (www.about-down-syndrome.com/famous-people-with-down-syndrome.html). One DS afflictee, Eric Ruthven, even garnered a membership in the Order of the British Empire in 2007 for achievement in community services (Deeprose 1) . Down Syndrome is but a mental and physical disadvantage where the child is left out in the mental and physical development vis-à-vis the other children of his own chronological age. Those with DS are at a physical disadvantage because their physical features are characterized with traits that would classify them as belonging to “the great Mongolian family”, thus the term “mongoloid”. Briton John Langdon Down in 1866 first identified those bearing the affliction, thus the name Down Syndrome. He observed that many patients in Earlswood Asylum and in outpatient clinics share the same physical traits i.e. broad head and flat faces that are devoid of prominence; small noses with flat nose bridges; almond, oblique-shaped eyes (which later on was attributed to the presence of epicanthic fold in the inner corner of the eyes and weak eyelid muscles); rounded face which extends laterally; elongated tongue (Carr 1). Later, this enumeration is buttressed with other traits i.e. the presence of Brushfield spots or white “necklace of pearls circling the iris”(Wolraich 213) ; a single fold of one or both palms termed as Simian crease; poor muscle tone; short but broad hands possessing incurved fifth digits; short neck with loose skin on the nape; low-set ears with a folded appearance; wide gap between the first and second toes in the feet and patterns of ridged skin (Nussbaum & MacInnes 158). Those with Down’s Syndrome are mentally disadvantaged because their mental and neural developments are delayed or retarded. A microscopic analysis of the neurons or brain nerve cells of most patients with Down Syndrome shows neurons that have specific degeneration 3 “in the nucleus basalis of Meynert” and exhibit neurofibrillary tangles and senile or amyloid plaques, where the denser and the more numerous the plaques, the more severe the retardation (Kaplan & Sadock 107,130,131). Thus, the mental retardation is variable as well as the IQ of those with DS but in general, it is in the range of 15 to 50 (Vinken et al 21). But some have been found to have IQs approaching 80 (Springhouse 451). The impairment of learning disability is also variable but it is evident already during the infancy of the afflicted child who almost always finds difficulty in turning over, sitting, standing and walking but even more noticeable is the difficulty in speaking and talking (Rees 202). This delay in the development of gross motor skills is caused by hypotonia or poor muscle tone of the larger body muscles. But still this is variable as some begin to walk at the age of two while others can only do so at the age of 4. Even more delayed is the development of his fine motor skills i.e. the use of his smaller muscles such as those located in fingers and hands. Thus he is handicapped in the dexterity and coordination of the hands and finds it difficult to write, draw, grasp, point and even eat, dress and take care of himself (Slentz & Krogh 143) Birth Defects or Health Problems Associated With Down Syndrome One study made in USA showed that the average lifespan of one with DS is 49 years old. This is because the genetic aberration causes birth defects, the most notable of which is congenital heart disease and other cardiovascular anomalies such as ventricular septal defects where practically 40% of those with DS are afflicted with. This is also a major cause of deaths (20%) for those with DS (Gorlin & Hennekam 39). Other birth defects that those with DS may carry with them are pulmonary hypertension; hearing loss due to ear structure aberration or fluid buildup in the inner ear; vision difficulties such as near and farsightedness and cataracts; 5 gastrointestinal problems; epilepsy; thyroid problems; obesity; non-immunity to infections; leukemia; pancreatic and bone tumors; periodontal disease such as gingivitis; dermatoglyphic ailments such as dermatitis and Alzheimer’s Disease(Gorlin & Hennekam 39). Cause of Down Disease When a child is conceived, he or she receives genetic information in the form of 46 chromosomes, 23 each from both mother and father. But for some obscure reason that science has yet to fathom and which cannot be traced at all to any parental act or any environmental or chemical action, an error occurs whereby the child gets an additional chromosome, an extra copy of the genetic material on the 21st chromosome i.e. giving the 21st chromosome 3 copies instead of 2, which bolsters the chromosomal number to 47 chromosomes. This triplication is caused by nondisjunction of this chromosome during meiosis I. It is this extra chromosome that imparts all the physical and mental retardation that the child has to bear in his entire life. It is not subject to prevention or to treatment (although the birth defects may be remedied by surgery or medical treatment) . It affects 1 out of every 800 babies born and its incidence rises up the older the mother gets (McCauley 150-1). A 30 year old mother’s chance of conceiving a child with DS rises to 1 in 900. When she is 35, that chance shoots up to 1 in 350 births. At age 40, it becomes 1 in 100. However recent research showed that fathers contributed to 24% of the incidence of DS. This means that 24% of the time the aberrant chromosome comes from the father (Jonsen,Veatch & Walters 282). Prenatal Diagnosis of Existence of Down Syndrome in Children Down Syndrome cannot be prevented but it can be diagnosed prenatally with the use of accurate, non-invasive SeQureDx which by sampling the maternal blood analyzes the fetal DNA 6 (PR-inside.com).This lays to rest invasive procedures like amniocentesis and CVS that threaten to cause fetal injury or worse, miscarriage. As an offshoot of these procedures were the research data showing that 92% of women who were diagnosed as having fetuses with DS terminated their pregnancies spawning howls of protest (Horrocks, BBC News). George Will condemned the prenatal diagnosis and the abortion as “eugenics by abortion” (Will, Washington Post). Many commented that children with DS, as a rule, have a zest for life, are happy people who are affectionate with a predilection of hugging and caring for others. They are also honest and genuine, straightforward and unpretentious who are “great givers” with the ability to minister to others. These people have a lust for life, enjoying dances, music, good food and celebrations like weddings where they can freely give vent to their affectionate nature. They also love to dress up. Many feel that the world is a better place to live in with people of their traits (McGuire NADS). They therefore do not deserve to be terminated or aborted. Instead they should be given a conducive family environment where love abounds and where they are treated as normal beings. It is best that they be enrolled in early intervention services where educators trained to deal with them and where speech and physical therapists aid them to accelerate their development. Their birth defects can be cured or minimized through surgery or appropriate medical treatment. Many afflicted with DS led normal lives after a good education together with normal people and after all the aforesaid actions were given them. Conclusion Down Syndrome is not a mental disease. It is not inherited and those having it can lead normal lives if proper actions are taken by their family. They can be useful to society and the world is a better place to live in with them around who have such a zest for life and who are so honest, affectionate and real, traits that are fast disappearing in this dog-eat-dog world. BIBLIOGRAPHY Carr, Janet. Down’s Syndrome. Cambridge University Press, 1995 Deeprose, Andrew. Callmac’s “Shining Star” Awarded MBE. Caledonian Macbrayne, 27 Dec. 2007. Gorlin,Robert & Hennekam,Raoul. Syndromes of the Head and Neck. Oxford University Press, 2001 Horrocks, Peter. Changing Attitudes. BBC News, 5 December 2008 Jonsen, Albert.,Veatch, Robert % LeRoy Walters. Source Book in Bioethics, Georgetown University Press, 1998 Kaplan, Harold & Sadock, Benjamin. Kaplan and Sadock’s Synopsis of Psychiatry, Lippincott William & Wilkin, 2007 McCauley, Rebecca Joan. Assessment of Language Disorders In Children, Lawrence Erlbaum Associates, 2001 McGuire, Dennis. If People With Down Syndrome Ruled The World. National Association For Down Syndrome.http://www.nads.org/pages_news/news/ruletheworld.html Nussbaum, Robert, MacInnes, Roderick &Thompson, James. Thompson and Thompson Genetics in Medicine. Elsevier Health Sciences, 2004 PR-inside.com. Sequenom Announces results of screening Studies. http://www.pr-inside.com/sequenom-announces-results-of-screeining studies-r623977.htm Rees, Alan. Consumer Health USA. Greenwood Publishing Group, 1997 Slentz, Kristine & Krogh,Suzanne. Early Childhood Development and Its Variations, 2007 Springhouse Publishing Company Staff. Pathophysiology Made Incredibly Easy. Lippincott Williams & Wilkins, 2008 Vinken, PJ. Neurobehavioural Disorders:Handbook. Elsevier Health Sciences, 2007 Will, George. Eugenics By Abortion: Is Perfection an Entitlement?. Washington Post, 1 April 2005 Wolraich, Mark. Disorders of Development and Learning. PMPH-USA, 2003 Read More