Williams Syndrome Research Paper
Prognosis The prognosis for Williams Syndrome is not bright in some areas and bright in others. Since there is no cure for this genetic disorder, treatment in no way can change the prognosis unless it is to alleviate a symptom of this disorder. Cardiovascular symptoms aside, individuals suffering from this disorder can live a healthy and long life if properly cared for and nurtured, but this is very rare. There are several ways to discuss the prognosis for this disorder and they are: life expectancy, quality of life, and expected outcome. First, according to the Williams Syndrome Association, life expectancy is something that has not been published about Williams Syndrome and is not currently underway, according to the Williams Syndrome Association (Williams Syndrome Association, 2017). The disorder is not widely known and is thus not under study. Williams syndrome does not have average life expectancy, in fact, there have only been a few cases of people living to the age of 60 (Williams Syndrome Association, 2017). Most individuals suffering with this condition only reach the ages of thirties and forties and do not have full functionality (Williams Syndrome Association, 2017). The
…show more content…
cardiovascular problems also present a difficult challenge to overcome, especially for newborn children (Eronen, 2002). If people suffering from this disorder are not under medical supervision they can easily suffer a heart attack, a mitral valve collapse, or an aneurism that kills them (Eronen, 2002). These cardiovascular symptoms greatly reduce the patient’s lifespan. Second, the quality of life can often be very poor for patients suffering from Williams Syndrome (Howlin, 2006). Patients often can suffer from depression and have so many adverse symptoms. They suffer from cardiovascular difficulties, mental cognition problems, facial distortion, lethargy, and much more (Collins, 2013). There is a low quality of life because there is limited functionality of the body. However, this can change from person to person because it depends on which symptoms the patient is suffering from and which are worse than others. This means that some individuals can work and perform day to day tasks and other require constant care in order that they can be sustained (Adams, 2012). There are some cases where patients have to have someone take them to the bathroom because they are incapable of doing it themselves due to the neurological problems Williams Syndrome brings (Howlin, 2006). The greatest problem beside the apparent physiological issues for quality of life is the fact that most of these patients cannot support themselves which is disheartening to them (Howlin, 2006). It also shows that this condition is life altering and affects the quality of life. Third, the expected outcome of this disease is limited functionality and dependence on others.
The outcome of this disease is easily seen. Williams syndrome is the deletions of genes on the seventh chromosome, which alter brain functionality, cardiovascular health, energy, and physical features (Adams, 2012).
In summary, three factors affect the prognosis. Those factors are life expectancy, quality of life, and expected outcomes. There is currently no life expectancy study done on Williams and none in the process. Quality of life can range from patient to patient and can often be quite poor if symptoms and cardiovascular difficulties plague the patient. And finally, the expected outcomes are limited functionality of the body, brain, and cardiovascular system.
Conclusion In conclusion, Genetic disorders mutate the DNA and in some cases, delete portions of it. Williams Syndrome is a genetic disorder that affects the genetic material on the seventh chromosome. The locus of 7q11.23 has over 25 genes deleted, which is why Williams Syndrome has so many implications and symptoms. Distinct facial features and structure characterize Williams Syndrome. It is also marked by some severe cardiovascular difficulties and issues that make life quite difficult for the patients suffering from this disorder. Williams also affects the mental capacity and logical thinking of the brain. This means daily tasks and school work can be greatly affected and require special care. Williams Syndrome is also considered an autosomal dominant disorder. This means it only must be inherited by one parent to have this condition. It also does not have to be passed down and inherited in order for some to have this genetic disorder occur in their genetic material at the locus of 7q11.23. If the parent and grandparent generations have rearrangements of the DNA in this area the F2 generation will be able to have this disorder. The treatments for this disorder are limited but include surgery and medications for cardiovascular symptoms, physical therapy, and occupational therapy. Finally, the prognosis for this disorder is not too bright. The patients suffering from Williams Syndrome often do not have as long as a life span as an average person and do not benefit from the greatest quality of life as clearly seen from the aforementioned symptoms. The outcome and prognosis means limited functionality of the neurological systems of the body and cardiovascular systems resulting in a limited quality of life. Williams Syndrome is a life altering disease and can affect almost every part of the body. With help patients, can have a decent quality of life.
cardiovascular problems also present a difficult challenge to overcome, especially for newborn children (Eronen, 2002). If people suffering from this disorder are not under medical supervision they can easily suffer a heart attack, a mitral valve collapse, or an aneurism that kills them (Eronen, 2002). These cardiovascular symptoms greatly reduce the patient’s lifespan. Second, the quality of life can often be very poor for patients suffering from Williams Syndrome (Howlin, 2006). Patients often can suffer from depression and have so many adverse symptoms. They suffer from cardiovascular difficulties, mental cognition problems, facial distortion, lethargy, and much more (Collins, 2013). There is a low quality of life because there is limited functionality of the body. However, this can change from person to person because it depends on which symptoms the patient is suffering from and which are worse than others. This means that some individuals can work and perform day to day tasks and other require constant care in order that they can be sustained (Adams, 2012). There are some cases where patients have to have someone take them to the bathroom because they are incapable of doing it themselves due to the neurological problems Williams Syndrome brings (Howlin, 2006). The greatest problem beside the apparent physiological issues for quality of life is the fact that most of these patients cannot support themselves which is disheartening to them (Howlin, 2006). It also shows that this condition is life altering and affects the quality of life. Third, the expected outcome of this disease is limited functionality and dependence on others.
The outcome of this disease is easily seen. Williams syndrome is the deletions of genes on the seventh chromosome, which alter brain functionality, cardiovascular health, energy, and physical features (Adams, 2012).
In summary, three factors affect the prognosis. Those factors are life expectancy, quality of life, and expected outcomes. There is currently no life expectancy study done on Williams and none in the process. Quality of life can range from patient to patient and can often be quite poor if symptoms and cardiovascular difficulties plague the patient. And finally, the expected outcomes are limited functionality of the body, brain, and cardiovascular system.
Conclusion In conclusion, Genetic disorders mutate the DNA and in some cases, delete portions of it. Williams Syndrome is a genetic disorder that affects the genetic material on the seventh chromosome. The locus of 7q11.23 has over 25 genes deleted, which is why Williams Syndrome has so many implications and symptoms. Distinct facial features and structure characterize Williams Syndrome. It is also marked by some severe cardiovascular difficulties and issues that make life quite difficult for the patients suffering from this disorder. Williams also affects the mental capacity and logical thinking of the brain. This means daily tasks and school work can be greatly affected and require special care. Williams Syndrome is also considered an autosomal dominant disorder. This means it only must be inherited by one parent to have this condition. It also does not have to be passed down and inherited in order for some to have this genetic disorder occur in their genetic material at the locus of 7q11.23. If the parent and grandparent generations have rearrangements of the DNA in this area the F2 generation will be able to have this disorder. The treatments for this disorder are limited but include surgery and medications for cardiovascular symptoms, physical therapy, and occupational therapy. Finally, the prognosis for this disorder is not too bright. The patients suffering from Williams Syndrome often do not have as long as a life span as an average person and do not benefit from the greatest quality of life as clearly seen from the aforementioned symptoms. The outcome and prognosis means limited functionality of the neurological systems of the body and cardiovascular systems resulting in a limited quality of life. Williams Syndrome is a life altering disease and can affect almost every part of the body. With help patients, can have a decent quality of life.