Role of the Nurse in the Context of Prader-Willi Syndrome

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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 treatment also advantageous because it decreases food preoccupation and weight gain. During pregnancy, there can be a few abnormal signs which can indicate, but are not limited to PWS. In utero, there can be excessive amniotic fluid; a condition known as polyhydraminos. There can also be reduced fetal movements and the fetal position within the uterus may be suboptimal i.e. breech presentation. Once the baby is born, other signs such as feeding difficulties- due to poor muscular tone affecting the sucking reflex and generalised hypotonia-poor muscular tone (FPWR, 2011).The baby may feel floppy when held as their joints may be loosely extended instead of being firmly in position. An early diagnosis of these can point to an early diagnosis of PWS, hence lead to early management. The clinical presentation of PWS is not limited to physical signs and symptoms but includes linear growth and development, which can cause mental and behavioural problems. These can be presented early in childhood. Physical features can include short stature, small hands and feet, low birth weight, and classic facial features including narrow forehead, almond-shaped eyes and “down-turned” mouth (Holm et al, 1993). Behavioural symptoms can include obsessive behaviours, unpredictable temper tantrums, skin picking, stubbornness and resistance to change. Individuals with this condition are not mentally stable as they have an increased risk and suffer from depression and psychosis. They also suffer from hallucinations, loss of interests, changes in mood and poor concentration levels. As mentioned earlier, Hypotonia is poor muscle tone. Hypotonia improves with age, however if it persists by the age of two to three, it is very likely that the child may not have started walking. Walking is a crucial milestone that should be reached within the first two years of life (NLM 2010).This is because their weight gain has made it difficult to move around and their condition is already exacerbated by the...
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