Prader-Willi Syndrome

What is Prader-Willi Syndrome?

Rare genetic disorder caused by a defect on chromosome 15

Has numerous mental, physical and behavior problems associated with it
Can affect individuals from all ethnic backgrounds
Happens in approximately 1 of every 15,000 births
Diagnosed through genetic testing after symptoms present themselves
There is no cure for Prader-Willi Syndrome, but it is manageable
Key feature is the constant need to eat because the individual always feels
hungry

What are the signs of PWS?

Infants

Weak muscle tone

Failure to thrive (poor growth)
Difficulty feeding
Poor responsiveness
Difficulty with eye coordination
Delayed development
Distinct facial features
Poor sexual development noticeable right after birth (abnormally small
penis, undescended testicles, under-developed genitalia)
Early Childhood
Typically much shorter than their peers by age 2
Begin showing signs of behavioral problems, such as sudden rages,
extreme stubbornness, controlling or manipulative behavior, persistent
lying, compulsive behaviors
Mild to moderate intellectual impairment
Food cravings and weight gain typically begin
Speech problems
Sleep disorders usually begin
Scoliosis

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Other endocrine problems (thyroid)
High pain tolerance
Difficulty regulating body temperature
Adulthood
Weight gain typically leads to obesity
Delayed puberty such as a woman not starting her menstrual cycle until
her 30s or not at all, or a man not developing facial hair or their voice
deepening
Infertility

There is no cure for PWS, but it can be controlled. Even once it is controlled,
individuals with PWS can binge eat. This can lead to a ruptured stomach.
Any pain an individual with PWS complains of should be taken very seriously
because of their tendency to have a very high pain tolerance.

Helpful Resources
Foundation for Prader-Willi Research:
http://www.fpwr.org/
The Mayo Clinic:
http://www.mayoclinic.org/diseases-conditions/prader-willi-syndrome
Sample letter for classroom teacher:
http://www.brandonuteachertools.net/praderwillisyndrome.html
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