What is Prader-Willi syndrome?
Prader-Willi Syndrome is the
most common genetic cause of life-threatening obesity in
People with Prader-Willi
syndrome have a problem in their hypothalamus, a part of
the brain that normally controls feelings of fullness or
hunger. As a result, they never feel full and have a constant
urge to eat that they cannot control.
Most cases of Prader-Willi syndrome result from a spontaneous
genetic error in genes on chromosome 15 that occurs at conception.
In very rare cases, the mutation is inherited.
What are the symptoms of Prader-Willi syndrome?
generally two stages of symptoms for people with Prader-Willi
Stage 1--As newborns, babies with
Prader-Willi can have low muscle tone, which can affect their
ability to suck properly. As a result, babies may need special
feeding techniques to help them eat, and infants may have
problems gaining weight. As these babies grow older, their
strength and muscle tone usually get better. They meet motor
milestones, but are usually slower in doing so.
Stage 2--Between the ages of 1 and 6 years
old, the disorder changes to one of constant hunger and food
seeking. Most people with Prader-Willi syndrome have an insatiable
appetite, meaning they never feel full. In fact, their brains
are telling them they are starving. They may have trouble
regulating their own eating and may need external restrictions
on food, including locked kitchen and food storage areas.
This problem is made worse because people with Prader-Willi
syndrome use fewer calories than those without the syndrome
because they have less muscle mass. The combination of eating
massive amounts of food and not burning enough calories can
lead to life-threatening obesity if the diet is not kept
under strict control.
There are other symptoms that may affect
people with Prader-Willi, including:
- Behavioral problems, usually during transitions and unanticipated
changes, such as stubbornness or temper tantrums
- Delayed motor skills and speech due to low muscle tone
- Cognitive problems, ranging from near normal intelligence
to mild mental retardation; learning disabilities are common
- Repetitive thoughts and verbalizations
- Collecting and hoarding of possessions
- Picking at skin
- Low sex hormone levels
Prader-Willi syndrome is considered
a spectrum disorder, meaning not all symptoms will occur
in everyone affected and the symptoms may range from mild
People with Prader-Willi often have some mental strengths
as well, such as skills in jigsaw puzzles. If obesity is
prevented, people with the syndrome can live a normal lifespan.
What are the treatments for Prader-Willi syndrome?
Prader-Willi syndrome cannot be cured. But, early intervention
can help people build skills for adapting to the disorder.
Early diagnosis can also help parents learn about the condition
and prepare for future challenges. A health care provider
can do a blood test to check for Prader-Willi syndrome.
Exercise and physical activity can help control weight and
help with motor skills. Speech therapy may be needed to help
with oral skills.
Human growth hormone has been found to be helpful in treating
Prader-Willi syndrome. It can help to increase height, decrease
body fat, and increase muscle mass. However, no medications
have yet been found to control appetite in those with Prader-Willi.