The prader-Willi syndrome results from the deletion or lack of expression of seven of the genes found on chromosome 15. It is as a result of disruptions in the paternal chromosome 15.
Disruptions in similar regions of the maternal chromosome result in the Angelman Syndrome (Eiholzer, 2005).
The syndrome’s incidence falls between 1out of 10,000 and 1 out of 25000 births that are live. It affects young children, adolescents and even adults. In some cases, it may affect fetuses developing in their mother’s wombs. Children suffering from the syndrome exhibit lethargy, retarded growth and coordination difficulties. They also sleep a lot and often experience difficulties during feeding. Adolescents may become obese and show slowness in development.
Adults suffering from the syndrome also exhibit obesity and have a high tendency of suffering from diabetes mellitus (Whittington, & Holland, 2004).
The chromosomal disruptions affect the hypothalamus’s function of regulating appetite. The patients therefore have an extreme appetite that is insatiable and the result is obesity. Raised ghrelin levels are also found in the patients. The elevated ghrelin levels have a direct relationship with the obesity and appetite. Diabetes mellitus is common in the patients. The patients also suffer from anxiety and psychiatric disorders.
In some cases, patients get depression, paranoia and hallucinations which mostly result in hospitalization. A major characteristic of the syndrome is hypogonadism. Males have testes that are undescended. The situation may be self rectifying.
If this does not happen, replacement of testosterone or surgery may be applied. Females have an adrenarche that is premature and benign. The treatment used for this condition is the replacement of hormones.
Patients of the syndrome exhibit a deficiency in growth hormones and are therefore short in stature (Whittington, & Holland, 2004).
Heinrich Willi, Guido Fanconi, Alexis Labhart, Andrea Prader and Andrew Zielger were the first people to explain the Prader -Willi Syndrome. This was done in the year 1956. It has been found that over 400, 000 people worldwide have the syndrome and this is a significantly large number. Research has been extremely useful in the diagnosis of the syndrome. This is done by carrying out tests of a genetic nature on the patients.
Research has aided in the prevention of erroneous diagnosis because the symptoms of the Prader – Willi syndrome closely resemble those of Down syndrome. Although there is no known cure for the Prader Willi syndrome, various treatments are being used to deal with the symptoms exhibited by patients of the syndrome. These include therapies for improved speech and muscular tone in infants, injection of growth hormones to support growth and reduce the rate at which the patients gain weight. Research has also shown that machines can be used for proper passage of air in the respiratory tracts of extremely obese patients when they sleep (Eiholzer, 2005).
There are specific programs that have been implemented to ensure that patients suffering from the syndrome are well accommodated in the recreation and leisure field.
These programs ensure the safety of patients. They also ensure that the patients are able to live a full life without feeling discriminated against. Such programs create forums for parents to voice their concerns during meetings. Families are able to share what they are going through and support each other by encouraging talk and sharing ideas on how to improve the life and health of patients. Where patients have retarded coordination, therapists are availed to assist. These facilities are able to exhibit professionalism as a result of proper management and leadership. The facilities are important as they ensure that the society lives in harmony without discrimination, regardless of the conditions that the various people are suffering from (Whittington, & Holland, 2004).
There is a significant number of people suffering from the Prader – Willi syndrome and it is therefore necessary to ensure that their lives are protected.
This is achieved by taking them for treatment and helping them to live as normally as they can (Eiholzer, 2005).
Eiholzer, U. (2005). Prader-willi syndrome: Coping with the disease – Living with those involved. Switzerland, S. Karger AG.
Whittington, J., & Holland, T. (2004). Prada –willi syndrome: Development and manifestations. New York, Cambridge University Press.