PraderWilli Syndrom Essay Research Paper PraderWilli SyndromPraderWilli

Prader-Willi Syndrom Essay, Research Paper

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 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 who understands the

syndrome might be necessary. Physical therapy is strongly recommended to improve

muscle tone. When the muscle tone improves enough, an increased appetite and

weight gain starts.The beginning of the second stage has begun. This hypotonia

does not progress and begins to improve between 8 and 11 months of age in most

cases.It improves,but it is never completly normal.

Stage 2

Stage 2 occurs between one and two years of age and is characterized by an

appetite that can not be satisfied whic causes excessive weight gain. Speech

problems, sleepiness, decreased pain sensitivity, skin picking habits and

decreased growth are also characteristics of the second stage of PWS. The

personality problems develop between ages 3 and 5 years also.

Most parents who have a kid with PWS do not have another kid affecte

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