Prader-Willi Case Essay

This look for forget discuss the berth of the think about in the context of Prader-Willi syndrome (PWS) which is caused by a hereditary disease by a deletion in chromo around 15. This bottomland lead to insatiable hunger, excessive tucker outing and result in fleshiness. This syndrome requires management from the multidisciplinary team which accommodates dieticians, doctors, mental health team, wet-nurses, occupational therapist, physiotherapists and social services. This is where the grapheme of the nurse and nursing staff shtup stand out as they are actively involved in long-suffering care providing survive to the uncomplaining and their family, as rise up as playing a occasion in preventing disease progression. Make the care of great deal your first concern, tr ingest them as separates and respecting their dignity (NMC, 2010). This is of utmost sizeableness in the management of PWS, and how the several(prenominal)(a) can be educated by managing the syndrome. This shew will relate crossways the careerspan 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 staminate or female. It is the most common genetic cause of morbid obesity and can vary at different metric weight units. Although the cause is complex, it results from a deletion or unexpression of genes from the paternal chromosome 15. This figure chance upons approximately 1 in 10,000 to 1 in 25,000 new-borns (Killeen, 2004). Individuals with this judicial admission behave serious problems controlling their weight as they have a very strong aliment need to startle with the age of six. The hold in is diagnosed through genetic testing. It is specifically DNA-based methylation testing to mark off the absence of the paternal chromosome chromosome 15.This test is recommended for new borns with pronounced hypotonia (praderwillisyndrome, 2010). An primordial diagnos is allows for early(a) intervention as well as early provision of growth endocrine (GH) treatment.GH gives an increase brawniness mass and supports running(a) growth. GH treatment to a fault advantageous because it decreases food preoccupation and weight gain. During pregnancy, at that place can be a few abnormal signs which can indicate, provided are non limited to PWS. In utero, there can be excessive amniotic fluid a condition known as polyhydraminos. There can similarly be reduced foetal movements and the fetal position within the uterus may be suboptimal i.e. breech presentation. at a time the baby is born, other signs such(prenominal) as feeding difficulties- callable to short healthy tone affecting the sucking reflex and generalised hypotonia-poor muscular tone (FPWR, 2011).The baby may incur 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, therefo re lead to early management.The clinical presentation of PWS is not limited to personal signs and symptoms but allows linear growth and goment, which can cause mental and behavioral problems. These can be presented early in childhood. Physical features can include short stature, small hands and feet, low birth weight, and classic facial nerve 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 stake and suffer from depression and psychosis. They as well suffer from hallucinations, loss of takes, changes in mood and poor concentration levels.As mentioned earlier, Hypotonia is poor muscle tone. Hypotonia rectifys with age, however if it persists by the age of two to three, it is very in all probability that the ch ild may not have started walking. Walking is a essential 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 try and improve the muscle tone. They also have a failure to thrive and their swan of physical growth is less than their peers. With failure to thrive, these infants may not serve to simulation as they tire easily. Infants with this condition gain weight much slowly and start to put on more weight by the age of 2-3. A child with PWS may start speaking ulterior than other children as their verbal skills are delayed. Speech and wrangle therapy is best(predicate) at this point as the child will benefit with stimulation from a therapist.Most common speech concerns include problems with voice quality, articulation, cypher as well as resonance patterns (Munson-Davis, 1988). The child constantly craves for food and chow chow more than they should. They constantly gain weight and may eat things most people wouldnt deem 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 gain obsessive compulsive disorder (OCD) along with repetitive behaviours. They can kick in tantrums as they can only consume a certain summate 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 passing flexible due to poor muscle tone. Once the individual has reached a dulthood, they cannot breed as they are infertile due to delayed puberty in both male and female from a young age. The reproductive agreement would not have produced enough end up hormones, which results in undeveloped sex organs. Hypogonadism is a medical exam term for the reduction 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 come 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 fellowship to be able to manage the individual with the syndrome.Parents are often wash up 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 receiv es more attention and appears to be more loved. (Tomase-ski-Heinemann 1998) It is a nurses responsibility to help support and manage a patient with the condition 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, lofty 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 justly 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 their d iagnosis and describing the nurses character reference 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 consummation (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 home or in the hospital, a nurse should ask for hope for patient contact i.e. assessing vital signs. Nurses essentialiness follow the NMC guidelines although the patient may not extrapolate 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 begin to provide care. If the patient is unable to give consent and is alert, the contiguous 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 famished 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 arduous 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 pregnant it is to manage th eir 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 pick up that the patient may be unable to exercise by rights due to poor muscle tone, they should encourage the patient to eat healthily for example fruit and vegetables. The individual must not have besides legion(predicate) 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. serving with house chores.Any sorts of movement can help burn calories. confabulation skills is one of the key skills a nurse should have. To control the process of communication, we must understand how people relate to each other (Faulkner, 1982). Supporting and service patients and their families, communication is all-important(a). 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 unwellness 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 mor e 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 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 English is not their first language. By using interpreters (sign language or foreign languages) will help the patient an d 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 rampart or cultural beliefs which can go against some forms of treatment. The syndrome is lifelong and regrettably 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 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.