Prader-Willi Syndrome
Definition
Prader-Willi syndrome is a rare genetic disorder. It is characterized by:
- Developmental delays
- Insatiable appetite leading to obesity by age six
- 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.
Genetic Material
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 affected children to identify very rare situations where the risk of recurrence might be 50%.
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
- Strabismus (misalignment of the eyes)
- Thin upper lip
- Narrow forehead
- Down-turned 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. Research into the use of novel anti-obesity medications is underway.
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
- Osteoporosis
- Bed-wetting
- 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.
Resources:
March of Dimes
Prader-Willi Syndrome Association (USA)
Canadian Resources:
Foundation for Prader-Willi Research
The Hospital for SICK Kids
References:
Missouri Developmental Disability Resource Center website. Available at: http://www.moddrc.org/.
Smith’s Recognizable Patterns of Human Malformation. 6th Edition. Elsevier Saunders, 2006.
Wattendorf DJ, Muenke M. Prader-Willi syndrome. Am Fam Physician. 2005; 72(5):827-830.
Last reviewed November 2009 by Rimas Lukas, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.