Prader-Willi Case Essay Example for Free

Prader-Willi Case EssayThis essay will discuss the role of the nurse in the st fester setting of Prader-Willi syndrome (PWS) which is exertiond by a genetic sickness by a deletion in chromosome 15. This squirt lead to insatiable hunger, excessive eating and result in obesity. This syndrome requires man eonment 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 brush aside stand out as they atomic number 18 actively involved in persevering care providing indorse 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 throw in either male or female person. It is the most common genetic cause of morbid obesity and can vary at different clogs. 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 grant serious problems controlling their incubus as they have a very strong food compulsion before the age of six. The condition is diagnosed through genetic testing. It is particularizedally DNA-based methylation testing to reveal 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 cookery of growth horm oneness (GH) treatment.GH gives an increased muscle mass and supports linear growth. GH treatment as well as advantageous because it decreases food preoccupation and weight gain. During pregnancy, there can be a few abnormal signs which can indicate, scarce are not limited to PWS. In utero, there can be excessive amniotic eloquent a condition known as polyhydraminos. There can too be reduced fetal movements and the fetal position at bottom the uterus may be suboptimal i.e. breech presentation. Once the baby is born, other signs such as feeding difficulties- collectable to poor muscular beef up affecting the sucking reflexive 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 steadfastly in position. An early diagnosis of these can spot to an early diagnosis of PWS, hence lead to early management.The clinical presentation of PWS is not limited to tangible 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, irregular 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 belief and psychosis. They in addition 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 deuce 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 hypotonia. They can be referred to physiotherapy to evidence and improve the muscle tone. They also have a ill to thrive and their rate of physical growth is less than their peers. With failure to thrive, these infants may not act to simulation as they tire easily. Infants with this condition gain weight more slowly and start to put 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. Speech 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 resonance patterns (Munson-Davis, 1988). The child constantly craves for food and eats more than they should. They constantly gain weight and may eat things most people wouldnt curb edible such as expired or frozen 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 infants can develop obsessive compulsive disorder (OCD) along with repetitive behaviours. They can throw tantrums as they can only consume a certain amount of food per day so they do not gain weight (as per their dietary 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 due to poor muscle tone. Once the individual has reached adulthood, they cannot reproduce as they are infertile due to delayed puberty 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 step-down or absence of hormone secretion or other physiological activity of the gonards. Individuals with PWS have some degree of a learning deadening. 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 household 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 debt instrument to help support and manage a patient with the conditio n along with supporting the individual and their family. The uncontrollable appetite leads to obesity. Obesity is a global epidemic, and is also known to be a significant risk factor 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 form 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 start from the first interaction. For example, in PWS this involves first building a rapport with the patient explaining their diagnosis and describing the nurses role in the management (monitoring weight, supporting diet). It should be stressed to the patient and their family the importanc e of confidentially and that their information will not be told to anyone outside the medical team. This realizes that the nurse has fulfilled their responsibly within the multi-disciplinary team. The Data Protection telephone number (1998) was put in place to brinytain patient records and information.Therefore the nurse would be upholding these legislations by practising patient confidentiality. When visiting a patient at root or in the hospital, a nurse should ask for consent for patient contact i.e. assessing vital signs. Nurses must follow the NMC guidelines although the patient may not meet what the nurse is express 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 begin to provide care. If the patient is unable to give consent and is alert, the next of kin is assigned to making the ratiocination due to the best inter est 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 amelioration 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 stop 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 therefore only require 1,000-1,200 calories a day (PWSA, 2010). Encouraging the individual to be healthy is important. Although the nurse must show 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 advise the family on encouraging the patient to do some exercises i.e. helping with house chores.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 unde rstand 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. distributively 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 feign 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 more or less 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 the multidisciplinary team. Nurses need to respect patients from various backgrounds as PWS can affect people of all ethnicities. This syndrome can be found i n 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 intentional 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 utter if English 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. explaining what the condition is. This will also leave the patient happy so they do not feel angry and upset.Some individuals may have a language barrier or cul tural 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 happy 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 confirmative 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.