Prader-Willi Syndrome Association of South Africa (PWS)
What is Prader-Willi Syndrome?
People with Prader-Willi Syndrome (PWS) have a chromosomal abnormality that gives rise to the syndrome. PWS, like all syndromes, is a combination of a number of symptoms that occur together and characterise a medical disorder. Doctors A Prader, H Willi and A Labhart originally described this syndrome in 1956.
What are the Symptoms?
PWS is a complex medical condition that affects boys and girls equally and continues to affect them throughout their lives. People with PWS have a multiple handicap, which may include the most, but not necessarily all, of the following:
- Hypotonia or poor muscle tone and strength. This is at its worst during infancy. Children usually get stronger as they grow older. Infants with hypotonia (the so called floppy baby) often lack the ability to control their head, arms and have a weak cry and poor sucking ability.
- Insatiable appetite (from about the age of 2) and an obsession with eating that can lead to gross obesity and associated problems, if food intake is not controlled.
- Weight problems. People with PWS are faced with a triple weight problem. 90% of people with PWS are always hungry, they put on weight with fewer kilojoules and they have difficulty in exercising due to poor muscle strength and co-ordination.
- Underdeveloped genitals and incomplete sexual development.
- Short adult stature, small hands and feet.
- Developmental milestones are usually delayed.
- Variable degree of mental or functional retardation. Great variety in the level of intelligence with the majority falling in the borderline or mildly retarded range. Most suffer from learning disabilities and can have difficulties with balance, co-ordination, speech and language.
- Other conditions include behavior problems ranging from stubbornness to occasional temper tantrums. Strabismus and myopia (cross-eyed ness and near-sightedness). Back problems (scoliosis). Scratching and picking at sores or insect bites. Excessive sleepiness. High pain threshold. Dental problems.