Prader Willi Syndrome - a child under strict control

Prader Willi Syndrome
The cause of hunger or lack of satiety, lies in the foul of the work center for satiety in the brain and has not found a cure ...
Prader Willi syndrome (PWS) causing genetic abnormality, in most cases, is not inherited. It is estimated that PWS occurs in one of 15,000 cases, which means that the world has a population of 350,000 or more people with PWS. Equally affects both male and female, regardless of race, characterized by two phases.
The first phase of slower growth. A child is born with pronounced hypotonia muscles of the entire body (flabbiness) and in the first month of life, we need tube feeding. The second phase starts from the first to the third year of life, when it occurs abnormal demand for food, which is why, if the child is under strict control, this phase is characterized by rapid weight gain in the early years. It is essential that the child is in an environment where food is not readily available and where they feel safe, because otherwise rapid weight gain, and all the problems that go along with the thickness drastically reduce his age.
Many people with PWS have a slight degree of mental retardation, which is different from person to person. In addition, and motor skills are slow and some of the characteristics of this syndrome are and hypogonadism (decreased function of the gonads) and lower body height.

The disorder center for satiety

The cause of hunger or lack of satiety, lies in the foul of the work center for satiety in the brain and has not found a cure that would treat this problem. Since it is necessary to control food intake, people with PWS functionally-on are limited and in most cases require 24-hour support, especially if the degree of intelligence (IQ) below average.
Before not too many years ago, a child born with Prader Willi syndromee  had very little chance to survive due to the fact that the then equipment and techniques available in the intensive care unit were not as advanced as today. Until recently, the majority of PWS diagnosed only at puberty, when it became evident that sexual development is slow, body weight extremely increased and behavior (especially near food) inappropriate.
Now diagnosis can be set already in the first month of life DNA analysis (available in most countries). Thus, early diagnosis allows parents and families to organize on time a plan for appropriate care and monitoring of the child.  Specifically, support and control of another person are extremely important, because food intake must control all his life, and that is something that people with PWS could not be alone. It's very easy to increase, and very difficult to reduce body weight. This happens because of the special structure of the body of patients with PWS muscles are small, low muscle tone and motor activity level usually below normal. For all that is required to intake less calories than normal. To be well-balanced diet, it should consult with the dietitian.

Important instructions and advice to parents of patients

Adverse reactions to some medications - People with Prader Willi syndrome  may have unusual reactions to standard medication. With great caution must be dosed medications for sedation because it is recorded prolonged and increased activity, and should be closely monitored respiratory function.
The accumulation of water in the body is associated with the use of certain drugs acting diuretic (reduced excretion of urine) as well as introducing large amounts of fluid.

Low levels of pain sensation - Lack of sensation of pain is a common symptom in patients with PWS. Can mask the presence of infection or injury, because people do not complain of pain until the infection is advanced. It happens that people with PWS can not accurately determine the location of pain. Because of this, any small change in behavior or physical condition should be checked by a doctor in order to cause said.

Breathing - People with PWS have an increased risk of respiratory ailments. Hypotonia, weak muscles of the chest and interruption of breathing during sleep, are the most important factors of these complications. All persons with the observed snoring, regardless of age, should perform testing to verify the presence of interruptions of breathing during sleep. When children are sick, they usually have serious airway problems, so it is essential needs of a laboratory test of respiratory function.

Vomiting - People with Prader Willi syndrome  rarely vomit. Emetic generally have no effect, and repeat dose leads to poisoning. This feature is especially worrying because of the presence of excessive appetite (hyperphagia), which are assimilated with large amounts of food, but also the possible entry of raw, burnt or any unhealthy food. If a person vomits, it can be a signal of a dangerous illness, and requires follow-up doctor.

Stomach distress - abdominal bloating, pain and vomiting may be signals of inflammation in the digestive system or life-threatening necrosis, much more frequent in people with PWS than in other populations. Although less common than localized pain, may be present and a sense of general weakness. If a person with PWS has these symptoms, requires a prompt and thorough medical treatment.

Body temperature - In patients with PWS was observed unexplained high or low body temperature. High temperature (hyperthermia) may occur, but also in mild disease or with surgery requiring anesthesia. On the other hand, fever and fever may be absent even in severe infections. Blood tests (complete blood count) may help determine the severity of the disease.

Skin injuries - Because habit of picking the skin, which occurs frequently in individuals with PWS may appear open wounds. In addition, the skin is sensitive to knocks and bruises arise when very light strokes. The wounds and bruises can lead to the wrong suspicion of physical abuse persons with PWS.

Appetite - Excessive appetite (hyperphagia) can lead to life-threatening obesity, which can progress very quickly even in spite of the implementation of low-calorie diets. People with PWS must be supervised at all times, especially in an environment where food is available. Those with normal body weight achieved thanks to the parents or carers who carry out strict control of their diet.

Swelling - For unknown reasons, people with PWS may have swelling because of which are necessary careful clinical monitoring and giving diuretics (drugs that increase the excretion of urine).

Death - The American Association of Prader Willi syndrome has established a database that recorded the death notices and information about the causes of death of people with PWS. In this way it has been proved that the cause of death of people with PWS in almost all cases associated with overweight.. See also Nephrotic syndrome.

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