Prader-Willi Syndrome - Term Paper Example

Running Head: Prader-Willi Syndrome Page Prader-Willi Syndrome. A research paper. Prader-Willi Syndrome Page 3. Abstract This research paper gives an overview of the Prader-Willi Syndrome (PWS). It includes a brief history of the discovery and research done relating to this disorder. It also provides a comprehensive guide line to the teachers entrusted with educating these special children. This paper is a short appraisal of what a teacher involved with teaching students with PWS must be aware of, in order to meet the peculiar needs of these kids. Prader-Willi Syndrome Page 3. Introduction: Until the year 1971 students with profound and multiple learning difficulties (PMLD), were denied access to education system being deemed uneducable. They were mostly cared for in long-stay institutions where they spent their lives hidden away laying on mats and beds, and only their most basic needs were attended to. A very sad and deplorable situation, as these special children were considered a scourge of God by the society, in general and a punishment by God for the sins of their parents, in particular. And this medieval perception and superstitious notion continued up till the twentieth century, when concrete research was undertaken by scholars and physicians, and the condition of these mentally and/or physically impaired children was looked into , with humane consideration, and solutions to better their quality and standard of life were sought to be improved. By the middle of the twentieth century, these children and the stigma attached to their peculiar mental and/or physical handicap was seriously analysed, and relevant research was undertaken by, albeit, a few in the beginning, to ameliorate their cause. And it is due to the painstaking efforts of those pioneers that these children, previously considered a burden on the society and their families, were brought into the mainstream. According to Butler & Lee (2009),"Prader-Willi syndrome was apparently first documented in an adolescent female by J. Langdon Down in 1887, but it was not described in medical literature until about 70 years later...In 1956, Prader Labhart, and Willi reported nine individuals...Since 1970s, the disorder has been referred to as the Prader-Willi Syndrome " (p3). For more than 30 years after this disorder was identified only a few major features were known and very few physicians knew about it and according to Butler & Lee (2009). "Typically, the doctors might have found a paragraph or two about PWS in a few medical references but little about management..." (p xxi) During the 80s, awareness about the PWS considerably improved. Holm, Sulzbacher, and Pipes published the book, ‘Prader-Willi Syndrome’, in 1981. The same year, Dr. David Prader-Willi Syndrome Page 4. Ledbetter discovered the deletion of information on the 15th chromosome in the people suffering from PWS. In 1983, Dr. Martin Butler recognised the deletion causing PWS occurred in the chromosome 15 inherited from the father. While in 1989, Dr. Nicholas identified uniparental disomy 15, and proposed the role of genomic imprinting. Since the last decade of the twentieth century till 2011, a lot has been understood, about the disorder by researchers and integration of this knowledge with that in the literature has lead to new hypotheses and interpretation of some hitherto unknown aspects of PWS. Today we know much more about this syndrome than ever before but still a lot has to be discovered and to be learnt about PWS. According to Whittington & Holland,( 2004), "From the practical perspective, research directed towards identifying and managing the complex medical, nutritional, psychological, education, social and therapeutic needs of the people with PWS is obviously desirable." (p 4). Prader-Willi Syndrome is a non-heritable genetically determined condition. The PWS is divided into two distinct stages. The first stage occurs during the neonatal and early infancy periods and is characterized by varying degrees of hypotonia, a week cry, a narrow forehead, developmental delay, temperature instability, poor suck reflex, sticky saliva, feeding difficulties, especially failure to thrive is noted during this stage. The second stage usually begins around 2 years of age and is characterized by continued developmental delay and psycho motor retardation and onset of hyperphagia, leading to obesity. Other features include speech articulation problems; foraging for food; rumination; unmotivated sleepiness; physical inactivity; decreased pain sensitivity; skin picking and other forms of self-injurious behaviour; prolonged periods of hypothermia; strabismus; hypopigmentation; scoliosis; obstructive sleep apnea and abnormal oral pathology. Early in the second stage, infants and toddlers are easy going and affectionate, but personality problems develop between 3-5 years of age. The behavioural problems associated with PWS are temper tantrums; depression; stubbornness; obsessive compulsivity; sudden acts of violence; poor peer interactions; immaturity; and inappropriate social behaviour. In the words of Shelley Kinash, ( 2007), "Altough infants with PWS may be tube fed in the beginning but around the age of 2years their feeding behaviour changes radically and an insatiable appetite appears. Because of a genetic twist persons with Prader-Willi Syndrome (PWS) are not able to internally control their urge to eat ". (p 10). Prader-Willi Syndrome Page 5. Shelley Kinash (2007), in her book, ARecipe For Success writes: "PWS is a genetic condition in which people gain approximately 20-30% more weight on50% less calorie, and have an ability to eat all of the time due to an overly developed food drive. The food sights, smells, and even sounds that abound in todays world drive people with PWS to distraction. It is very difficult for people with PWS to maintain the recommended body weight. For many, obesity results in secondary ailments and death." (p 2) . These secondary ailments and life threatening diseases are arthritis, type II diabetes and heart diseases, among others. School going children with PWS have special needs that that must be catered to in order for them to perform well in their academic pursuits and the most important people to ensure this are teachers. It is the teachers responsibility to be aware of what they are dealing with. These teachers must be aware of the disabilities faced by these special students and hence they need to design a curriculum that best suits their special pupils. In addition, they must inform other class fellows of these students of their special needs and the space and quite they need to thrive in the class room environment. According to Butler& Lee (2009), "Many children with PWS begin school in mainstream. About 5% attend regular school until secondary level, but the intellectual impairment and potential behavioural problems present in the majority of children with the syndrome require special education and support." (p13, 14) Most of these children have low cognitive levels plus an average IQ of 65. Therefore, they have problems with speech, language; difficulty in problem solving; use of complex grammar; limited vocabulary; problems with writing, cutting and other motor tasks. So, the teacher must be adequately educated and trained and assisted, if need be, by experts. He/she must also have first- hand knowledge of first aid, as children with PWS are prone to self-inflicted injuries, and bruising and skin picking, and as they have a high pain threshold, an untrained teacher may not be aware of an injury or illness of his/her student, till it is too late. Prader-Willi Syndrome Page 6. A good teacher must be also be adept at coping with the behavioural issues of his students, as children with PWS thrive on consistency and routine and are easily upset when disruptions in their regular routine occur. In short a teacher of pupils with PWS must be a qualified nutritionist, dietician, psychologist, psychiatrist and a nurse. Cartwright & Wind-Cowie (2005), in their book , Profound And Multiple Learning Difficulty, write: "In establishing educational programmes for pupils with PMLD their personal needs and physical management cannot be ignored. Consideration for daily living skills and general mobility is essential, not as separate programmes developed apart from general curriculum but as an integral part of school life. The key to developing programmes lies in the ability of he teacher to realize the pupils personal desires and motivations and to combine it with collaborative approach with other professionals. Such programmes should concentrate on facilitating independence, transferring control and establishing communication.” (p 5) Conclusion: Children with PWS need special care and with the right approach and carefully designed curriculum, and extra-curricular activities, they can be made a valuable asset of our society. This must be the ultimate goal of a teacher who is entrusted with imparting providing education and moral values to these special kids. Prader-Willis Syndrome Page 7. References. Corinna Carthwright & Sarah Wind-Cowie, (2005), Profound And Multiple Learning Difficulties, Copywright Continnum International Publishing Group, 15 East 26 Street New York, NY 10010. Joyce Whittington & Tony Holland, (2004),Prader-Willi Syndrome Development And Manifestations, Copyright Cambridge University Press, London. Merlin G. Butler & Phillip D. K. Lee & Barbara Y. Whitman (editors ),(2009), (1995), Copyright by the Prader-Willi Syndrome Association (USA), Management of Prader-Willi Syndrome, Printed in the United States Of America, Springer Science+Media, Inc. 233 Spring Street, New York, NY 10013,USA. Shelley Kinash, (2007), A Recipe For Success, Copyright IAP__Information Age Publishing, Inc., Printed in the United States Of America. Read More