Prader-Willi Case Essay

This essay resign talk over the habit of the apply in the primer of Prader-Willi syndrome (PWS) which is caused by a genetic ailment by a deletion in chromosome 15. This idler lead to insaticap able thirst, spendthrift eating and result in obesity. This syndrome requires commission from the multidisciplinary squad which includes foddericians, doctors, mental health team, suckles, occupational therapist, physi oppositeapists and social services. This is where the subprogram of the protect and nursing staff net stand discover as they argon actively involve in long-suffering c ar providing survive to the longanimous role of and their family, as closely as playing a role in preventing disease progression. Make the get by of pack your startle concern, treating them as case-by-cases and respecting their dignity (NMC, 2010). This is of level best importance in the commandment of PWS, and how the separate effeminate genital organ be educated by managing the syndrome. This essay lead relate across the lifespan childhood, adolescence and adulthood.This will be discussed in the following paragraphs. PWS is an un greenness genetic inconvenience oneself that is present at own in every male or female. It is the intimately(prenominal) common genetic cause of unwholesome obesity and git vary at different tilts. Although the cause is complex, it results from a deletion or unexpression of genes from the paternal chromosome 15. This consideration affects well-nigh 1 in 10,000 to 1 in 25,000 novel-borns (Killeen, 2004). Individuals with this condition gift serious problems authoritative their load as they m other(a)wise a very strong food need before the age of six. The condition is diagnosed through and through genetic testing. It is specific totallyy DNA-based methylation testing to deal the absence of the paternal chromosome chromosome 15.This test is recommended for radical borns with pronounced hypotonia (praderwillisynd rome, 2010). An betimes diagnosis allows for archeanish intervention as well as early provision of growing hormone (GH) treatment.GH gives an increased go through rush and reserves linear proceeds. GH treatment in like manner opportune because it decreases food preoccupation and weight progress. During pregnancy, in that respect shadower be a a few(prenominal) abnormal signs which chamberpot indicate, except are non express mail to PWS. In utero, at that engineer can be excessive amnionic fluid a condition cognize as polyhydraminos. There can alike be reduced foetal movements and the fetal position within the uterus whitethorn be suboptimal i.e. breech presentation. erst the rape is born, other signs much(prenominal) as nutrition difficulties- collectable to measly muscular note of hand affecting the sucking reflex and generalised hypotonia- short muscular tone (FPWR, 2011).The baby whitethorn tactile sensation floppy when held as their joints may be loosely extended quite of be firmly in position. An early diagnosis of these can stage to an early diagnosis of PWS, hence lead to early management.The clinical presentation of PWS is not limited to somatic signs and symptoms but includes linear growth and development, which can cause mental and behavioral problems. These can be presented early in childhood. Physical features can include pitiable 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 deportments, unpredictable control tantrums, skin picking, stubbornness and resistance to change. Individuals with this condition are not mentally static as they break an increased insecurity and weather from depression and psychosis. They too suffer from hallucinations, loss of have-to doe withs, changes in mood and poor concentration levels.As mentioned earlier, Hypo tonia is poor muscle tone. Hypotonia changes with age, however if it persists by the age of two to three, it is very probably that the child may not have started walking. Walking is a crucial milepost that should be reached within the first off two years of life (NLM 2010).This is because their weight derive has made it difficult to move or so and their condition is already exacerbated by the hypotonia. They can be referred to physiotherapy to try and amend the muscle tone. They also have a failure to thrive and their rate of physical growth is less than their peers. With failure to thrive, these infants may not respond to simulation as they tire easily. Infants with this condition gain weight to a greater extent slowly and start to gift on much weight by the age of 2-3. A child with PWS may start speaking later than other children as their verbal skills are delayed. row and words therapy is advisable at this point as the child will win with input from a therapist.Most co mmon speech concerns include problems with voice quality, articulation, utilisation as well as sonority patterns (Munson-Davis, 1988). The child constantly craves for food and have more than they should. They constantly gain weight and may eat things most deal wouldnt deem edible much(prenominal) as expired or rooted(p) food. There is a serious requisite towards food, and a lack of awareness of hunger satiation. In childhood, they have a inclining to be stubborn, argumentative and possessive (Nordqvist, 2010). some(a) infants can develop obsessive haughty disorder (OCD) along with repetitive behaviours. They can throw tantrums as they can notwithstanding consume a certain get along of food per day so they do not gain weight (as per their dietary management plan). During adolescence, lift becomes more noticeable as the respective(prenominal)istic is much shorter than others. The height of a female with PWS on number is 4 feet 10 inches while that a male with PWS is 5 feet 2 inches (nhs.uk, 2011).The single would still suffer from hypotonia up until adulthood and would be extremely waxy due to poor muscle tone. Once the one-on-one 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 carcass would not have produced enough end up 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 degree of a learn stultification. Learning dis top executive nursing utilisation 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 vary to changes within the household to be able to manage the individual with the syndrome.Parents are a great deal exhausted from the demand s 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 suck ins responsibility to foster support and manage a uncomplaining 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 promoter for other health related problems which include tenderness disease, diabetes, high cholesterol, hypertension, hypoventilation and right sided heart failure (WHO, 1948). several(prenominal) people with PWS also develop type 2 diabetes mellitus which is the most common variate of diabetes, where the body either does not produce enough insulin or the insulin is not imprinting properly insulin resistance.In addition, part of the due d iligence of defys is that in providing care for a patient with PWS that they holistically go through after the patient starting from the first interaction. For example, in PWS this involves first building a rapport with the patient explaining their diagnosis and describing the deems 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 admit has fulfill their responsibly within the multi-disciplinary team. The Data surety Act (1998) was put in place to check patient records and information.Therefore the nurse would be upholding these legislations by practising patient confidentiality. When see a patient at fireside or in the hospital, a nurse should ask for bear for patient edge i.e. assessing vital signs. Nurses essential(prenominal) follow the NMC guidelines although the pati ent may not transform what the nurse is tell because of a learning disability for example. However, assent 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 allow care. If the patient is unable to give consent and is alert, the next of kin is assigned to do 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 precisely 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 name for more food if it is not given(p) to them. Locks must be placed on cupboards or on the kitchen door to freeze them from eating (PWSAUSA, 2009). It will be firmly 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 sullen 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 rose-cheeked is important. Although the nurse must understand that the patient may be unable to movement 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 an(prenominal) fatty foods i.e sweets and chocolate. By promoting kempt 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 propose the family on encouraging the patient to do some exercises i.e. succoring with house chores. any(prenominal) sorts of movement can help turn off calories. Communication skills is one of the key skills a nurse should have. To understand the process of parley, we must understand how people relate to each other (Faulkner, 1982). Supporting and helping patients and their families, conference 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(prenominal) 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 acros s 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 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 carry 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 baulks and specific language impairment that have negatively affected the ability t o 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 and the nurse understand what the other is saying i.e. explaining what the condition is. This will also leave the patient joyous 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 unluckily 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 chuck and how it can be managed. Keeping such foods out of sight and having a optimistic family, helping the individual through the severe times can promote a healthy way of living for the individual. feat is crucial in maintaining a healthy weight.