Prader-Willi Syndrome: A Rare but Prominent Condition

Aida will do anything for food – sneaking into the pantry or refrigerator at midnight, stashing away leftovers from an earlier party… even lying and stealing, if that’s what it takes.  No, Aida is not a criminal.  Neither is she a drug addict.  Aida (an entirely fictitious name) has a condition in which she has an insatiable appetite, combined with an obsessive-compulsive need to relieve the constant hunger.  It’s a rare condition, to be sure.  Only between 1 in 10,000 and 25,000 people born have Prader-Willi syndrome (PWS), a condition first described fairly recently, in 1956, by a group of researchers after whom the disease has been named.  Aida will do anything for food – sneaking into the pantry or refrigerator at midnight, stashing away leftovers from an earlier party… even lying and stealing, if that’s what it takes.  No, Aida is not a criminal.  Neither is she a drug addict.  Aida (an entirely fictitious name) has a condition in which she has an insatiable appetite, combined with an obsessive-compulsive need to relieve the constant hunger.  It’s a rare condition, to be sure.  Only between 1 in 10,000 and 25,000 people born have Prader-Willi syndrome (PWS), a condition first described fairly recently, in 1956, by a group of researchers after whom the disease has been named.   According to the Prader-Willi Association (USA), there are nearly 309,000 documented cases of PWS in the U.S., but this figure may reflect only about one-third the true total, which means that many people with PWS are not receiving the services they need.

prader willi syndrome obesity

This 1680 portrait by
Spanish artist Juan Carreno
de Miranda (1614–1685) is
widely believed to represent
a girl with Prader–Willi
syndrome.

PHOTO: COURTESY OF
WIKIMEDIA COMMONS
(PUBLIC DOMAIN)


Symptoms at Birth and During Childhood
   Newborns and children have low muscle tone, appearing soft and floppy.  Their almond-shaped eyes are similar to those of infants and children with Down syndrome.  Because the condition is caused by a gene mutation, genetic testing is necessary to confirm the presence of PWS.  Children may have a delay in speech and intellectual development.  Although infants with PWS have difficulty feeding, children between the ages of 2 and 8 develop a habit of overeating.  Children usually receive growth-hormone therapy to control appetite, increase muscle mass (and tone), and compensate for their short stature.


Symptoms in Adults
   The desire for food continues into adulthood.  Adults also are small in stature and have a mild-to-moderate cognitive disability.  In caring for adults with PWS, the following is important:

  • Food may have to be kept locked away.  Special locks are available for refrigerators.
  • Physical contact must be with caution, as people with PWS have soft skin that bruises easily.
  • Because people with PWS are prone to diabetes, a diet low in sugar is necessary.
  • People with PWS may need a positive airway machine to help with their sleep apnea.

Skin picking and other obsessive-compulsive behaviors are common among with people with PWS, who may exhibit emotional and behavioral disorders.

A related genetic disorder is Angelman syndrome (AS), named after the British pediatrician who first described it in 1965.  Children and adults with AS often smile and have a happy demeanor, despite their severe developmental delay.  These children are often referred to as “angels,” both because of their youthful, happy appearance and the syndrome’s name.  (An older term, “happy puppet syndrome,” is considered offensive.)  With research and advocacy efforts, it is hoped that people with AS and PWS will have reason to smile.

angelman syndrome portrait painting child disability

This highly realistic portrait of a
child with a drawing by Italian
artist Giovanni Francesco Caroto
(1480–c. 1555) caught the attention
of Harry Angelman, the British
pediatrician who, in 1965, first
described a condition similar to
Prader–Willi syndrome.

PHOTO: COURTESY OF WIKIMEDIA
COMMONS (PUBLIC DOMAIN)

Did You Know?
About 1 in 10,000 and 25,000 people born have Prader-Willi syndrome.  Why the huge discrepancy?  Because the condition is so rare, not all physicians know of it to make an accurate diagnosis, and many symptoms are easily confused with other, more common conditions, such as Down syndrome.

Although this rare condition was not described in the scientific medical literature until 1956, children with PWS and Angelman syndrome have been depicted in realistic portraits by artists of the Renaissance and Baroque periods.

Oscar-nominated and winning actress Mayim Bialik is also a neuroscientist.  She completed her PhD dissertation on Prader-Willi syndrome and portrayed a neuroscientist on the popular TV series The Big Bang Theory.

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