What is Prader-Willi Syndrome?

Prader-Willi syndrome (PWS) is a complex genetic disorder resulting from abnormality on the 15th chromosome.  PWS causes low muscle tone, short stature if not treated with growth hormone, cognitive deficits, problem behaviors, and most notable, a chronic feeling of hunger which, when coupled with a metabolism that uses drastically fewer calories than normal, can lead to excessive eating and life-threatening obesity.  

 

While PWS is rare, the Utah Prader-Willi Syndrome Association (UPWSA) is a strong group offering support and hope to families, providers, and communities, starting with a new diagnosis and throughout the PWS journey. 

Other issues that people with PWS may deal with are: short stature, small hands and feet, respiratory issues, small muscle mass, sleep apnea, hypothyroidism, incomplete sexual maturity, global developmental delays, difficult behaviors, skin picking, obsessive compulsive tendencies, scoliosis and mild mental retardation. Not all people with PWS experience all of these issues. There is a wide spectrum of severity within the syndrome. Some individuals are enrolled in special education and group homes, and others attend public school and lead fairly independent lives.

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Failure to Thrive Stage

Prader-Willi Syndrome is a multistage disorder of chromosome 15.  Newborns are usually weak, floppy, have a poor sucking reflex, rarely cry, and are very lethargic with weak muscle tone. They are generally fair-headed and fair-skinned compared to their siblings. Babies with PWS are often fed with assistance from an NG tube and may need supplemental oxygen early on.

 

Typically, this hypotonia (low muscle tone) continues to improve throughout the toddler years with the help of physical therapy, speech therapy and occupational therapy, until they have almost caught up to their peers developmentally. Babies and toddlers with PWS can be easy-going and good-natured.

Other issues that people with PWS may deal with are: short stature, small hands and feet, respiratory issues, small muscle mass, sleep apnea, hypothyroidism, incomplete sexual maturity, global developmental delays, difficult behaviors, skin picking, obsessive compulsive tendencies, scoliosis and mild mental retardation. Not all people with PWS experience all of these issues. There is a wide spectrum of severity within the syndrome. Some individuals are enrolled in special education and group homes, and others attend public school and lead fairly independent lives.

Thriving Too Well Stage

Sometime between 2-4 years the child shows an abnormal interest in food. The hypothalamus of the brain does not register the sensation of being full properly and this causes the child with PWS to have an uncontrollable urge to eat all the time.

 

If left unmanaged and calories are not restricted, this hyperphagia (extreme appetite) can lead to diabetes, respiratory or heart failure and life-threatening obesity. Most of the medical problems in PWS are related to obesity, hypotonia, and hypothalamic dysfunction. 

 

Gaining excessive weight over time is not the only concern. Other factors include adverse reactions to medications, high pain tolerance, gastrointestinal and respiratory issues, and unstable temperature.  Adrenal insufficiency may occur as well.

 

Since people with PWS generally have a high pain tolerance, there have been incidences when an unsupervised person with PWS will over-eat, not knowing when to stop, causing their stomach to rupture. The need for constant food supervision is crucial! There is currently no medical or surgical intervention that can cure this eating obsession.

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Occurence Facts

Even though PWS occurs in 1:15,000 to 1:25,000 births, Prader-Willi Syndrome is one of the ten most common conditions seen by geneticists. PWS occurs equally in males and females and in all races. Based on the national average, 80% of people who have the syndrome are left undiagnosed.

Other PWS Issues

Other issues that people with PWS may deal with are: generalized hypotonia, short stature, small hands and feet, respiratory issues, small muscle mass, swallowing abnormalities, sleep apnea, hypothyroidism, incomplete sexual development, global developmental delays, chronic and difficult behaviors, skin picking, obsessive compulsive tendencies, chronic constipation, stomach necrosis and rupture following binge eating, scoliosis, hip dysplasia, osteoporosis, and cognitive impairment. Not all people with PWS experience all of these issues. A wide spectrum exsits in the severity of the syndrome. Some individuals are enrolled in special education and group homes, and others attend public school.

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Reason to Hope

While there is no cure for Prader-Willi syndrome, recently there have been some medical developments that give parents and their children with PWS reason to hope. Growth hormone, thyroid treatments, and psychotropic medications are helping many people with PWS grow taller, have more energy, minimize developmental delays, increase lean muscle mass, regulate behaviors, and lead more active lives in general.