Role of the Nurse in the Context of Prader-Willi Syndrome
This essay will discuss the role of the nurse in the context of Prader-Willi syndrome (PWS) which is caused by a genetic disease by a deletion in chromosome 15. This can lead to insatiable hunger, excessive eating and result in obesity. This syndrome requires management from the multidisciplinary team which includes dieticians, doctors, mental health team, nurses, occupational therapist, physiotherapists and social services. This is where the role of the nurse and nursing staff can stand out as they are actively involved in patient care providing support to the patient and their family, as well as playing a role in preventing disease progression. “Make the care of people your first concern, treating them as individuals and respecting their dignity” (NMC, 2010). This is of utmost importance in the management of PWS, and how the individual can be educated by managing the syndrome. This essay will relate across the lifespan; childhood, adolescence and adulthood. This will be discussed in the following paragraphs.
PWS is an uncommon genetic disorder that is present at birth in either male or female. It is the most common genetic cause of morbid obesity and can vary at different weights. Although the cause is complex, it results from a deletion or unexpression of genes from the paternal chromosome 15. This condition affects approximately 1 in 10,000 to 1 in 25,000 new-borns (Killeen, 2004). Individuals with this condition have serious problems controlling their weight as they have a very strong food compulsion before the age of six.
The condition is diagnosed through genetic testing. It is specifically DNA-based methylation testing to distinguish the absence of the paternal chromosome; chromosome 15.This test is recommended for new borns with pronounced hypotonia (praderwillisyndrome, 2010). An early diagnosis allows for early intervention as well as early provision of growth hormone (GH) treatment. GH gives an increased muscle mass and supports linear growth. GH
PWS is an uncommon genetic disorder that is present at birth in either male or female. It is the most common genetic cause of morbid obesity and can vary at different weights. Although the cause is complex, it results from a deletion or unexpression of genes from the paternal chromosome 15. This condition affects approximately 1 in 10,000 to 1 in 25,000 new-borns (Killeen, 2004). Individuals with this condition have serious problems controlling their weight as they have a very strong food compulsion before the age of six.
The condition is diagnosed through genetic testing. It is specifically DNA-based methylation testing to distinguish the absence of the paternal chromosome; chromosome 15.This test is recommended for new borns with pronounced hypotonia (praderwillisyndrome, 2010). An early diagnosis allows for early intervention as well as early provision of growth hormone (GH) treatment. GH gives an increased muscle mass and supports linear growth. GH