1. PRADER WILLI SYNDROME
Esther Ogbu
Andrea Johnson
Tina Glendadakis

2. WHAT IS PRADER WILLI SYNDROME?
 Prader–Willi syndrome (PWS) is a rare
genetic disorder in which seven genes on
chromosome 15 are deleted or unexpressed
on the paternal chromosome.
 It was first described in 1956 by Andrea
Prader, Heinrich Willi, Alexis Labhart,
Andrew Ziegler, and Guido Fanconi of
Switzerland

3. CHARACTERISTICS
 Symptoms are believed to
be caused by dysfunction
of a portion of the brain
called the hypothalamus.
 The hypothalamus is a
small endocrine organ at
the base of the brain that
plays a crucial role in
many bodily functions like,
hunger and satiety,
temperature and pain
regulation, fluid balance,
puberty, emotions, and
fertility.
 Although hypothalamic
dysfunction is believed to
lead to the symptoms of
PWS, it is unclear how the
genetic abnormality causes
hypothalamic dysfunction.
 There are two generally
recognized stages of the
symptoms associated
with PWS

4. WWW.FPWR.ORG/ABOUT-PRADER-WILLI-SYNDROME
Stage 1
In the first stage, infants with PWS
are hypotonic or "floppy", with very
low muscle tone.
Weak cry and a poor suck reflex are
typical. Babies with PWS usually are
unable to breastfeed and frequently
require tube feeding.
These infants may suffer from
"failure to thrive" if feeding
difficulties are not carefully
monitored and treated.
As these children grow older,
strength and muscle tone generally
improve.
Motor milestones are achieved, but
are usually delayed.
Stage 2
 An unregulated appetite
characterizes the second stage of
PWS.
 This stage most commonly begins
between ages 2 and 6 years old.
 Individuals with PWS lack normal
hunger and satiety cues.
 They usually are not able to control
their food intake and will overeat if
not closely monitored.
 Food seeking behaviors are very
common.
 In addition, the metabolic rate of
persons with PWS is lower than
normal.
 Left untreated, the combination of
these problems will lead to morbid
obesity and its many complications.

5. OTHER CHARACTER ISTICS
o Prader-Willi syndrome is
considered a spectrum disorder,
meaning not all symptoms will
occur in everyone affected and
the symptoms may range from
mild to severe.
o People with Prader-Willi often
have some mental strengths as
well, such as skills in jigsaw
puzzles.
o If obesity is prevented, people
with the syndrome can live a
normal lifespan.
o Behavioral problems, usually
during transitions and
unanticipated changes, such as
stubbornness or temper tantrums
o Delayed motor skills and speech
due to low muscle tone
o Cognitive problems, ranging from
near normal intelligence to mild
mental retardation; learning
disabilities are common
o Repetitive thoughts and
verbalizations
o Collecting and hoarding of
possessions
o Picking at skin
o Low sex hormone levels

6. FISH (fluorescence in situ hybridization)
 A cytogenetic technique used to detect and localize the presence or absence of
specific DNA sequences on chromosomes.
FISH uses fluorescent probes that bind to only those parts of the chromosome with
which they show a high degree of sequence similarity.
Fluorescence microscopy can be used to find out where the fluorescent probe
bound to the chromosomes.
FISH is often used for finding specific features in DNA for use in genetic
counseling, medicine, and species identification.
FISH can also be used to detect and localize specific mRNAs within tissue samples.
In this context, it can help define the spatial-temporal patterns of gene expression
within cells and tissues.

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8. TREATMENT
In multiple studies, human growth hormone (HGH) has been found to be beneficial
in treating Prader-Willi syndrome.
In June of 2000, HGH was officially recognized by the Federal Drug Administration
(FDA) in the United States and other countries for use in patients with Prader-Willi
syndrome.
HGH is effective not only in increasing height, but also
Decreasing body fat, increasing muscle mass
 Improving weight distribution
 Increasing stamina,
 Increasing bone mineral density
Despite this, many difficult symptoms associated with PWS remain untreated.
To date, no effective medications have been found to regulate appetite.
Inability to control food intake is often the biggest obstacle keeping those with
PWS from living independently.
In addition, medical treatment of the psychiatric and behavioral issues associated
with PWS has produced inconsistent results.

9. OTHER TREATMENTS
Exercise and physical activity can help control weight and help
with motor skills.
Speech therapy may be needed to help with oral skills.