Biology - Prader-Willi Syndrome Research Paper Example | Topics and Well Written Essays - 1000 words

Biology - Prader-Willi Syndrome - Research Paper Example It was first described by Andrea Prader and Heinrich Willi in 1956. It is a rare genetic disorder in which seven genes or some subsets are deleted, translocated or unexpressed on the paternal chromosome 15. For the genes affected in PWS, the paternal copy is expressed while the maternal one is silenced. The PWS genes are maternally imprinted making the copy inherited from the father active. With this copy absent in PWS due to chromosomal translocation, both copies are imprinted in the maternal realm making the normal genes absent. Therefore people with PWS have a working and a non-working copy. The characteristics of PWS are stunted development in the intellectual functioning same as those associated with intellectual disability. A chronic feeling of hunger that can lead to excessive hunger and life –threatening obesity arises. Then there is a likelihood of strange behavior or complications that may have effect on ones quality life or on the family members negatively. These ch aracteristics draw the quest for scientific research because the genes which are not expressed and thought to be responsible for the disorder are imprinted. PWS is an example that shows the function of imprinted genes in development. This knowledge has led to extensive research about imprinted genes, their occurrence and process of imprinting. There are two different genotypes for PWS which ultimately lead to two phenotypes, causing the need to understand the causes of the phenotypic differences, identifying the gene and their products and discern whether they are imprinted or no (Butler 12). However, the effects of the syndrome vary from individual to individual and on different factors. This has made the exact nature of the abnormality and whether one or more genes are involved to be unknown. Some physical and behavioral features are inherently present while others are not. The syndrome poses major implications for the developing baby in the uterus and throughout the personâ€℠¢s life. At birth there is extreme floppiness and subsequent cognitive, physical and behavioral abnormalities that eventually lead to widespread medical and social needs. Information on the disorder is got from parents whose children have ever developed it, or medical practitioners who have had such a case. The following are clinical features and signs of PWS at different levels of development: In utero, there is decrease in fetal movement, frequent abnormal fetal position and seldom excessive amniotic fluid, a condition known as polyhydramnios. At birth, there is often caesarian births, difficulties in feeding due to poor muscle tone affecting the sucking process, and respiratory difficulties. At infancy level, the difficulties in feeding advances, oversleeping is evident, crossed eyes and delay in intellectual development. At childhood there are notable delays in speech production, overeating from the age of 2-4 years leading to excessive weight gain and sleeping problems. At adol escence, puberty delays, obesity sets in followed by extreme flexibility and a short physique. In adulthood, infertility is common in males and females, vulnerability to diabetes mellitus, learning disabilities, obesity and reduced growth of pubic hair. The general physical appearance of a PWS adult victim comprise the following characteristics: incomplete sexual development, excess fat on the central part of the body, high, narrow forehead, small hands and feet, light skin and hair unlike other family members, and delayed motor development (Waters 85). Cognitively, PWS patients have low or below average intelligent quotient that is generally unusual. Children portray a high visual and perception capacity on reading and writing with poor articulatory and understanding processes. Coordinating received information word by word is relatively hard for them as well as poor arithmetic skills, leading to memory lapses and auditory retention span. Abnormal behavioral patterns include insati able appetite resulting in increased obesity. The cause for

Change Management and Leadership Research Paper

Change Management and Leadership - Research Paper Example Secondly, the leadership should have the power to motivate and empower the followers so that they become ready to adapt to changes without resistance. Also, they should be encouraged to accept the shared vision and get ready to accept challenging goals. Another important point is that the leadership should be able to enforce enough discipline to execute the plans and policies. Most of the time, organizations come up with impressive strategic plans but they lack the change management skills to properly operate the strategies to reach the expected goals. As Kaminski insists, whenever there is a plan, there should be properly developed performance measures and targets. Thirdly, the leadership should be fully prepared to change at any time as an organization might need to change as a result of environmental changes. So, only a fully prepared leadership can ensure that the organization has an environment that proactively observes and responds to changes in both external and internal facto rs. Finally, the leadership should understand change as a long and continuous process which has to be implemented over a long period of time. Leadership as the Visionary The first role of leadership is that of a visionary. ... Leadership as the Inspirer Leadership should have the ability to inspire and motivate the people under it. It is often achieved by identifying specific benefits to the people and minimizing potential losses. Also, there is participative decision making and open communication which will make the followers feel that there is a compelling reason for change. Leadership as Supporter In fact, leadership acts as supporter through providing enough resources, enough time, recognition and rewards. Also, from time to time, leadership will publicise vivid stories about the success of the change. Moreover, the leadership will provide such a picture that the success of all people is dependent on the success of the change. Leadership as Supporter Leadership also acts as supporter during changes. It actively listens to the problems and criticisms of people. Also, it offers as much empathy and care as possible to the people affected by the change. Leadership and Change Strategies There was a seminar named ‘Transforming Organisations’ organised by the European Foundation for the Improvement of Living and Working Conditions in Madrid on 23 and 24 September 2003. In the seminar, all the participants agreed to the fact that change management is the most important role of leadership. In fact, most of the changes introduced in organizations are aimed at improving either performance or productivity. The various strategies the companies adopt to ensure transformation range from growth, innovation and skills development, downsizing, layoff, replacements, altering assets and resources, and so on and on (cited in Dhondt, Kraan and Sloten). June Kaminski