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Article Provided by The ARC of Georgia
Fact
Sheet
Prader-Willi Syndrome is a congenital condition caused by the deletion
of a gene on chromosome 15. For unknown reasons, only the copy of this
gene on chromosome 15 that is received from the father is active. When
there is a deletion of this gene on the copy received from the father,
the syndrome occurs. Suspicion of the diagnosis is first assessed
clinically, then confirmed by specialized genetic testing on a blood
sample.
Infants, because of weak limp muscles (hypotonia), usually nurse or
suck poorly and often must be fed with special nipples or tubes. They
sit up, crawl and walk later than the average child.
Around two to four, most children develop an insatiable appetite,
which can result in life-threatening obesity if not carefully
controlled. People with Prader-Willi Syndrome (PWS) have a flaw in the hypothalamus part of
their brain, which normally registers feelings of hunger and satiety.
While the problem is not yet fully understood, it is apparent that
people with this flaw never feel full.
They have a continuous urge to
eat that they cannot learn to control. To compound this problem,
people with PWS need less food than their peers without the syndrome
because their bodies have less muscle and tend to burn fewer calories.
Small hands and feet, short adult stature, poor balance and
coordination, and lack of puberty are characteristics, too. Not every
child has every characteristic and there are degrees of severity.
Mental development is slow and the IQ is often below average, but it
varies. Normal IQs, even in the 90-100 range, are accompanied by
learning disabilities. Almost all children require some form of
special education.
Children with Prader-Willi generally are very happy, smile frequently,
and are pleasant to be around, but they may have some specific
behavior characteristics that require management:
-
repetitive
thoughts and verbalizations
-
collecting
and hoarding of possessions
-
a strong
need for routine and predictability
Frustration or changes in plans can easily set off a loss of emotional
control in someone with PWS. Medication can help some individuals, but
the essential strategies for helping a person with PWS are careful
structuring of the person's environment and consistent use of positive
behavior management and supports.
Helpful Information:
Following are some health problems that can occur in people with PWS.
This does not mean that your child will be affected with all of the
problems. They are treatable.
-
A micro
penis (very small penis) in the male infant may be corrected with a
short course of testosterone.
-
Hypogonadism (impaired hormone production) may be corrected at puberty
with hormone replacement.
These
conditions are related to obesity and may be avoided with weight
control:
-
hypoxia
-
hypercapnia (an excess of carbon dioxide in the blood)
-
hyperinsulinism (too much insulin)
-
abnormal
glucose tolerance
-
orthopedic, knee, and hip problems
-
failure to
respond to luteinizing hormone releasing factor
-
skull and
narrow bifrontal diameter
Resources:
Prader-Willi
Association of Georgia
Prader-Willi
Syndrome Association
Medline Plus
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The impact of a
disability can always be lessened to some degree by early intervention. |
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