OPWSA: What is Prader-Willi Syndrome?

What is Prader-Willi Syndrome?

The Ontario Prader-Willi Association is a registered non-profit charity organization, established in 1982.

CHARITABLE #:
11906 8203 RR0001

What is Prader-Willi Syndrome?

Prader-Willi Syndrome (PWS) is a genetic condition which is generally caused by a deletion in Chromosome 15. The current incidence of PWS is 1-12,000. It is believed that there is a close connection between PWS and disturbance of the hypothalamus-an area of the brain which controls a number of bodily systems.The following is an overview of characteristics common to Prader-Willi Syndrome. However, not all symptoms are present in all individuals and the intensity of characteristics varies from person to person:

INFANTS

Characteristics:

Hypotonia (weak muscle tone)

Difficulty with feeding because of poor sucking ability

Delayed motor & language development

Respiratory difficulties

Helpful Interventions:
Most infants will benefit greatly from early interventions with a physio/occupational therapist who can help set up a program to encourage development and provide assistive devices which will help. A nutritionist can provide information about diet, ensuring that adequate calories are provided. As your baby grows, speech therapy may also enhance your child's skills. Most infants with PWS have a happy disposition and respond well to people. A pediatric endocrinologist can provide information on growth hormone therapy which can assist greatly in muscle development and growth.

CHILDREN & ADULTS

Characteristics:

Short stature, small hands and feet (without growth hormone treatment)

Intellectual impairment (average IQ is 70 which is just below normal)

Learning deficits such as poor short term memory, difficulty with auditory discrimination

Increased risk of obesity because of a persistent sense of hunger and lack of satiation (hyperphagia), low metabolic rate (60%) and high fat-to-muscle ratio

Serious health problems if weight is not controlled (diabetes, cardiac & respiratory complications)

Behavioral problems

Helpful Interventions:
Dietary intervention and exercise are important, especially if food foraging behaviours become evident. Everyone involved in your child's life must be aware of the need to control food intake. It is also important to understand life from the emotional and cognitive perspective of the individual with PWS. Consistency and structure will provide the support required in order for the individual to thrive and grow. With appropriate supports the person with PWS can continue to learn and contribute throughout his/her lifespan.

OTHER CHARACTERISTICS & INTERVENTIONS

Skin picking

Excessive sleepiness

High pain threshold

Lack of vomit reflex

increased risk of scoliosis (curvature of the spine) & osteoporosis (bone thinning)

Recent research indicates that growth hormone treatment can help increase height and muscle mass in children with PWS. Children and adults with PWS should be tested for sleep apnea as well as respiratory problems prior to beginning treatment.

Testosterone is often used in adolescent males to enhance maturity. Testosterone can also promote growth in height and muscle mass.

Children over the age of 10yrs should have a bone scan to test for osteoporosis. There are excellent treatment for this condition which will ensure bone strength and prevent spontaneous fractures from occurring.

Much research continues to take place in the area of genetics and obesity, bringing us closer to understanding and finding helpful medical interventions. As Prader-Willi Syndrome becomes more widely recognized more and more medical research is taking place around the world.

With your support, we can find the cure!

	This OPWSA website is intended to provide information only - not to diagnose or advocate particular treatment options. The diagnosis and treatment of Prader-Willi Syndrome should be made through a qualified medical professional. Thus, it is strongly urged that patients do not change treatment without first consulting their doctor.
	Web design courtesy of Jennifer Gignac. Site updated & maintained by OPWSA. 2006