If your child has been diagnosed with Prader-Willi syndrome (PWS), or if you’ve newly met someone with this intellectual and developmental disability (IDD)—whether a family member, friend or part of a friend’s family, co-worker, neighbor, or someone else—you wouldn’t be alone in realizing you don’t know much about it. So, here’s some introductory information and facts about Prader-Willi syndrome—also sometimes called Prader-Labhart-Willi syndrome—to help you understand it better.
Basic Facts About Prader-Willi Syndrome
- The correct pronunciation is PRAH-dur VIL-e.
- PWS is a genetic disorder that affects many of the body’s systems. It’s caused by loss of gene function in a particular area of chromosome 15. About 70% of cases result from part of the paternal chromosome 15 being deleted.
- This condition was first described by Swiss doctors Andrea Prader, Alexis Labhart, and Heinrich Willi in 1956, after they observed it in nine children they examined.
- Prader-Willi syndrome affects males and females equally. It occurs in all ethnic groups and areas of the world.
- It’s estimated that this IDD appears in about 1 in every 10,000 to 30,000 births.
- Genetic testing is necessary for diagnosing Prader-Willi syndrome.
- Signs and symptoms in infancy typically include poor muscle tone, feeding difficulties related to a weak suck, a weak cry, impaired development, and delayed growth.
- In childhood—usually around the age of 2—kids with PWS develop an insatiable appetite. This generally leads to chronic overeating. This in turn often causes weight problems and obesity, and sometimes hypertension, type 2 diabetes, respiratory problems, sleep apnea, and other health problems associated with excess weight.
- Other common signs and symptoms of Prader-Willi syndrome include mild to moderate intellectual impairment, learning disabilities, behavioral problems (stubbornness, temper outbursts, compulsive behaviors like skin picking), sleep abnormalities, speech problems, narrow forehead, almond-shaped eyes, thin upper lip, downturned mouth, scoliosis, short stature, small hands and feet, increased susceptibility to respiratory infections, underdeveloped genitals, and infertility. Some people also have especially pale skin, hair, and eyes (hypopigmentation), adrenal insufficiency, or hypothyroidism.
- There is no cure for Prader-Willi syndrome. Treatment—which includes a wide range of therapies—focuses on managing the symptoms and complications.
- Early intervention and strict adherence to treatment regimens can greatly improve many areas affected by this IDD. Effective care requires the help of many specialists, often including a pediatrician, geneticist, endocrinologist, orthopedist, psychologist, physical and occupational therapist, nutritionist, dietitian, speech therapist, and others.
- Individuals with Prader-Willi syndrome usually require some level of ongoing care throughout their lives.
- People with PWS generally live well into adulthood. The most common causes of death are obesity-related problems with the heart or lungs.