Prader-Willi Syndrome is a rare genetic disorder. It is characterized
by:
- Developmental delays
- Insatiable appetite leading to obesity by age 6
- Mental disabilities
- Incomplete sexual development
- Short adult stature-
Causes
Prader-Willi Syndrome is believed to be caused by a genetic defect on chromosome 15, passed on by the father.
Risk Factors
A risk factor is something that increases your chance of getting a disease or condition. Since Prader-Willi Syndrome is caused by a random genetic defect, there are no known risk factors. However, in about 1% of cases, this defect may recur in the same family. Some genetic counselors recommend testing of other family members.
Symptoms
Symptoms of an infant born with
Prader-Willi Syndrome may include:
- Poor muscle tone
- Poor reflexes
- Small to normal size
- Inability to suck well
- A weak, squeaky cry
- Lethargy
As a toddler, new symptoms may include:
- Delay of normal development, such as language skills and walking
- Behavior problems, such as temper tantrums and stubbornness
As the child gets older, symptoms may include:
- Insatiable hunger, resulting in compulsive eating and often obesity
- Continuing behavior problems, such as anger and inflexibility
- Learning disabilities
- Low to normal IQ
- Incomplete sexual development, and infertility as an adult
- High threshold for pain
- Insensitivity to temperature extremes
Diagnosis
The diagnosis is usually evident shortly after birth based on symptoms and a
characteristic physical appearance:
- Almond-shaped eyes
- Narrow forehead
- Triangular-shaped mouth
- Lighter coloring compared with other family members
Diagnosis can be confirmed by genetic testing of a blood sample.
Treatment
Treatment, which continues into adulthood, is managed by the parents or
caregivers of children with
Prader-Willi Syndrome. Key areas include:
Appetite and Weight
Perhaps the most important concern is managing food intake. People with
Prader-Willi syndrome are unable to resist food. This is due to a defect in the
part of the brain that controls the normal feelings of fullness when the body
has had enough food. In addition, people with Prader-Willi syndrome have a slow
metabolism. These traits can cause excessive weight gain, morbid obesity, and
other related health problems.
Treatment:
- Food restriction and supervision
- Regular exercise
Behavior Issues
Infants and young children with Prader-Willi syndrome are typically happy and
loving. But as they get older, you may notice behavior changes. Common behaviors
include:
- Temper tantrums
- Difficulty with transitions
- Mood swings
- Obsessive-compulsive habits
Treatment:
- Daily structure and routine
- Firm rules
- Rewards for good behavior
- Psychotropic drugs may be necessary
Developmental Issues
Children with Prader-Willi syndrome may experience the following:
- Delay in motor skill development
- Cognitive delay or limits
- Delays in physical growth
- Incomplete sexual development in adolescence
Treatment:
For certain conditions, such as delayed physical growth or sexual development,
growth hormone therapy may be helpful.
Related Health Conditions
The following conditions are associated with Prader-Willi syndrome and will
require life-long management:
- Scoliosis
- Strabismus (an eye disorder)
- Osteoporosis
- Bedwetting
- Dental problems
- Obesity-related problems, such as:
- Type 2 diabetes
- High blood pressure
- Heart failure
- Skin problems
- Skin picking
Prevention
There are no guidelines for preventing Prader-Willi syndrome.