Prader-Willi Syndrom

Topics: Growth hormone, Sleep, Sleep apnea Pages: 5 (1477 words) Published: October 8, 1999
Prader-Willi Syndrom

Prader-Willi Syndrome is a serious genetic disorder that begins at birth with no known cure ; causing mental retardation,short stature,low muscle tone,incomplete sexual development,and its main charecteristic,the desire to eat everything and anything in sight.

Prader-Willi syndrome was first known as Prader-Labhart-Willi Syndrome after three Swiss doctors who first described the disorder in 1956. The doctors described a small group of kids with obesity, short stature and mental deficiency , neonatal hypotonia (floppiness) and a desire to constantly eat because they are always hungry. Many other features of PWS have since been described, but extreme obesity and the health problems associated with being fat are the most prominent features. Individuals with PWS have some but not all of the same features and symptoms.

PWS is a birth defect. A defect in the hypothalamus, a region of the brain, is suspected to be the cause.The hypothalamus determines hunger and satiety.They can't fell satiety,so they always have a urge to eat.Some PWS cases are so out of control thay will eat bottlecaps,glass,pencils,garbage,bugs,dogfood, and anything else they can stuff in their mouths.

"The ingenuity and determination of PWS children in surreptitiously obtaining edibles is almost legendary and belies their cognitive defects. Serial weighing may be the only way to discover whether such a child is, in fact, stealing food"(Finey,1983).

PWS occurs in about l in 10,000 births. It occurs in both males and females equally and is found in people of all races and all nations.It is one of the ten most common conditions seen in genetics clinics.

Young people with PWS resemble each other very much.Most of the time, they look like brother and sister. Most of PWS people have almond shaped eyes, narrow foreheads, downturned mouth, thin upper lip and a small chin. Other common features are : obesity , they may be short; they have small hands and feet; have a skin picking habit, thick and sticky saliiva,incomplete sexual development, a curved spine (scoliosis),and chronic sleepiness.

PWS patients also have similar personalities: talkative, friendly,extreme attempts towards getting food,arguementivness,repetitve thoughts and behavior, stubbornness, frequent temper tantrums, and sometimes sudden acts of violence.

Most people with PWS have some degree of mental deficiency. The average IQ of people with PWS is 65 ,and it ranges from 20 to 90. 41% of PWS people have IQs in the normal or borderline range.Specific academic weakness in math and writing are common, but reading and art are considered strengths.A delay in getting to early developmental milestones is common in PWS. The average IQ testing shows that people with PWS are mildly retarded, the range is from severely retarded to not retarded, with 40% having borderline retardation or just a low normal intelligence. Most affected children, besides their IQ scores, will have many, severe learning disabilities,and will show poor academic performance no matter what their IQ shows to their mental abilities.

There are many signs and symptoms of PWS that show up before birth.some are decreased fetal movement in 80-90% and having an abnormal delivery in 20-30% due to having a really floppy baby. There are two distinct clinical stages of PWS.

Stage 1

Babys with PWS are called "floppy babies" a lot. Thats because they have weak muscles, officially it is known as hypotonia. This hypotonia,which h almost always
occurs, could be mild to severe. Neonatal hypotonia makes sucking difficult, and a special feeding method called a gavage is used.A gavage the placing of a tube into the stomach through the mouth.They use it during the first days of life a lot.. Decreased caloric intake from the special feeding difficulties may lead to failure to gain weight. To keep the baby's weight under control supervision by a professional nutritionist or a specialist...
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