Prader-Willi Case Essay Example for Free

Prader-Willi Case EssayThis essay get out controvert the role of the maintain in the context of Prader-Willi syndrome (PWS) which is caused by a genetic disease by a deletion in chromosome 15. This shtup lead to insatiable hunger, excessive eating and result in obesity. This syndrome requires solicitude from the multidisciplinary team which includes pabulumicians, doctors, mental health team, nurses, occupational therapist, physiotherapists and social services. This is where the role of the nurse and nursing staff drive out stand out as they be actively involved in patient role like providing bear to the patient and their family, as well as commanding a role in preventing disease progression. take up the care of people your premier concern, treating them as various(prenominal)s and respecting their dignity (NMC, 2010). This is of utmost importance in the focussing of PWS, and how the case-by-case bath be educated by managing the syndrome. This essay entrust re late 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 all male or feminine. It is the most common genetic cause of morbid obesity and notify vary at different encumbrances. Although the cause is complex, it results from a deletion or unexpression of genes from the paternal chromosome 15. This delimitate guesss almost 1 in 10,000 to 1 in 25,000 new-borns (Killeen, 2004). Individuals with this condition set aside serious problems controlling their incubus as they look at a very strong solid food compulsion before the age of six. The condition is diagnosed through with(predicate) 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 hypotonicity (praderwillisyndrome, 2010). An wee diagnosis allows for early interventi on as well as early provision of maturation hormone (GH) treatment.GH gives an increased vigor mass and supports linear growth. GH treatment also advantageous because it decreases food concentration and weight exonerate. During pregnancy, there can be a few abnormal signs which can indicate, save are non limited to PWS. In utero, there can be excessive amniotic fluid a condition known as polyhydraminos. There can also be reduced foetal movements and the fetal position within the uterus may be suboptimal i.e. breech presentation. Once the baby is born, other signs much(prenominal) as feeding ruggedies- out-of-pocket to sad muscular tone affecting the sucking reflex and generalized hypotonia- unretentive muscular tone (FPWR, 2011).The baby may feel floppy when held as their joints may be in the main extended instead of being firmly in position. An early diagnosis of these can transmit 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 seventh cranial nerve features including narrow forehead, almond-shaped eyes and down-turned mouth (Holm et al, 1993). Behavioural symptoms can include obsessive behaviours, unpredictable pettishness tantrums, skin picking, stubbornness and resistance to change. Individuals with this condition are not mentally stable as they cede 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 mends with age, however if it persists by the age of 2 to three, it is very likely that the child may not consider started walking. Walking is a c rucial milepost 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 hypotonia. They can be referred to physiotherapy to try and improve the muscle tone. They also have a failure to thrive and their rate of physical growth is slight than their peers. With failure to thrive, these infants may not respond to simulation as they tire easily. Infants with this condition gain weight more slowly and start to contrive on more weight by the age of 2-3. A child with PWS may start speaking later than other children as their verbal skills are delayed. voice communication and language therapy is advisable at this point as the child will benefit with input from a therapist.Most common speech concerns include problems with voice quality, articulation, usage as well as plangency patterns (Munson-Davis, 1988). The child constantly craves for food and eats mor e than they should. They constantly gain weight and may eat things most people wouldnt deem edible such as expired or polar food. There is a serious compulsion towards food, and a lack of awareness of hunger satiation. In childhood, they have a tendency to be stubborn, argumentative and possessive (Nordqvist, 2010). some(prenominal) infants can develop obsessive domineering disorder (OCD) along with repetitive behaviours. They can throw tantrums as they can single consume a certain amount of food per day so they do not gain weight (as per their dietetical management plan). During adolescence, height becomes more noticeable as the individual is much shorter than others. The height of a female with PWS on average is 4 feet 10 inches while that a male with PWS is 5 feet 2 inches (nhs.uk, 2011).The individual would still suffer from hypotonia up until adulthood and would be extremely flexible repayable to poor muscle tone. Once the individual has reached adulthood, they cannot r eproduce as they are infertile due to delayed pubescence in both male and female from a young age. The reproductive system would not have produced enough sex hormones, which results in undeveloped sex organs. Hypogonadism is a medical term for the reduction or absence of hormone secretion or other physiological activity of the gonards. Individuals with PWS have some story of a accomplishment dis tycoon. Learning disability nursing practice reflected current philosophies of supporting people with learning disabilities (Clifton et al. 1992). The presence of PWS in a family can create substantial stress. Families would have had to adapt to changes within the business firm to be able to manage the individual with the syndrome.Parents are often exhausted from the demands of their time and energy for diet control, specialized programmes, therapy appointments and behavioural supervision. Siblings are also affected as they often feel neglected as the PWS sibling receives more attention and appears to be more loved. (Tomase-ski-Heinemann 1998) It is a nurses responsibility to economic aid support and manage a patient with the condition along with supporting the individual and their family. The uncontrollable propensity leads to obesity. Obesity is a global epidemic, and is also known to be a significant risk work out for other health related problems which include heart disease, diabetes, high cholesterol, hypertension, hypoventilation and right sided heart failure (WHO, 1948). Some people with PWS also develop type 2 diabetes mellitus which is the most common conformity of diabetes, where the body either does not produce enough insulin or the insulin is not working properly insulin resistance.In addition, part of the due diligence of nurses is that in providing care for a patient with PWS that they holistically look after the patient starting from the first interaction. For example, in PWS this involves first building a rapport with the patient explaining thei r diagnosis and describing the nurses role in the management (monitoring weight, supporting diet). It should be stressed to the patient and their family the importance of confidentially and that their information will not be told to anyone outside the medical team. This ensures that the nurse has fulfilled their responsibly within the multi-disciplinary team. The Data Protection Act (1998) was put in place to maintain patient records and information.Therefore the nurse would be upholding these legislations by practising patient confidentiality. When see a patient at home or in the hospital, a nurse should ask for accord for patient contact i.e. assessing vital signs. Nurses essential follow the NMC guidelines although the patient may not understand what the nurse is saying because of a learning disability for example. However, consent must be indicated in some form such as nodding of the head. The NMC (2010) states that you should ensure that you gain their consent before you be gin to digest care. If the patient is unable to give consent and is alert, the next of kin is assigned to making the decision due to the best interest of the patient.A nurse is accountable to manage, maintain and monitor the individuals weight. The nurse does not only have to keep track but also the family should be involved in managing the weight. Nurses can book weekly appointments with the individual and their family/carer so their weight can be monitored to check for any improvement to the weight or not. The family should monitor the amount the individual consumes daily. They are constantly hungry and cry for more food if it is not given to them. Locks must be placed on cupboards or on the kitchen door to dismiss them from eating (PWSAUSA, 2009). It will be hard for the individual to cope once this is introduced as they do not know when to stop. This is where the nurse should explain to the individual how important it is to manage their weight and what it can lead to if it is not controlled. The nurse should be there to support them when the individual starts to show aggressive behaviour as it will be hard for the family as well.Adults with PWS are inactive due to their low muscle tone and consequently only require 1,000-1,200 calories a day (PWSA, 2010). Encouraging the individual to be wakeless is important. Although the nurse must understand that the patient may be unable to exercise properly due to poor muscle tone, they should encourage the patient to eat healthily for example fruit and vegetables. The individual must not have too many fatty foods i.e sweets and chocolate. By promoting healthy foods will ensure that the individual does not gain more weight than they should. It will be hard for the individual to cope with the new foods introduced to them which is why a nurse will be there to support the individual and family. The nurse can also pop the question the family on encouraging the patient to do some exercises i.e. helping with house chor es.Any sorts of movement can help burn calories. Communication skills is one of the key skills a nurse should have. To understand the process of communication, we must understand how people relate to each other (Faulkner, 1982). Supporting and helping patients and their families, communication is crucial. By managing the individual and their condition, team work is fundamental. It is important to work as team as the main focus in the patient care plan is the individual. Each health care professional has a role to play to help improve the individuals well-being. The main focus is the role of the nurse and how their professional issues can impact on the health and illness of people across the life span. It is important for a nurse to understand individuals and their condition because they can help make it somewhat easier for the patient and their family.This is because the nurse is an allied health professional who enjoys more interaction with the patient than many other members of th e multidisciplinary team. Nurses need to respect patients from various settings as PWS can affect people of all ethnicities. This syndrome can be found in people of any ethnic background (Zelweger, 1983). Nurses must respect the patients background and understand that they may not be able to communicate or understand what is being said. Makaton could be used to enhance communication and is a language programme, which is designed to provide a means of communication to individuals who cannot communicate well by speaking (Beukelman. D.R Mirenda).Makaton can also be used with individuals who have cognitive impairments and specific language impairment that have negatively affected the ability to communicate. An interpreter is also a form of communication as they are translating what the other is saying if side of meat is not their first language. By using interpreters (sign language or foreign languages) will help the patient and the nurse understand what the other is saying i.e. expla ining what the condition is. This will also leave the patient bright so they do not feel angry and upset.Some individuals may have a language barrier or cultural beliefs which can go against some forms of treatment. The syndrome is lifelong and unfortunately has no cure, but with the support and advice the nurse will have given the patient and the family, the patient will be prosperous and content (FPWR, 2010). This essay has included the role of the nurse for this condition and how it can be managed. Overall, the main point is to promote a healthy way of what the individual eats and how it can be managed. Keeping such foods out of sight and having a positive family, helping the individual through the tough times can promote a healthy way of living for the individual. Exercise is crucial in maintaining a healthy weight.