Prader-Willi Syndrome

By: Shelby Janowski

What is it?

A rare and congenital genetic disorder that may cause problems physically, mentally, and behaviorally. Once a child with the syndrome is 2 years old, they may begin to show a strong urge to eat without feeling full. When children show the characteristic of eating and not feeling full it is called hyperphagia, which makes it hard to control their weight. Children and adults can have Prader-Willi Syndrome, but there are doctors that can help to reduce symptoms. The specialists can also help to decrease complications, and make the quality of life better.

Symptoms

Due to dysfunction in the hypothalamus portion of the brain

Spectrum disorder: symptoms will vary between individuals

  • Poor Muscle Tone: Babies affected might have loose elbows and knees, and may seem to be floppy when held
  • Distinct Facial Features: Almond-shaped eyes, narrowing of the head at the temples, turned-down mouth, thin upper lip
  • Poor Reflexes: Poor sucking reflex, makes feeding difficult for babies (may need a feeding tube)
  • Lack of Eye Coordination (Strabismus): Eyes may not move together, may cross or wander to the side
  • Poor Responsiveness: Unusually tired, may not respond to stimulation, hard time waking up, weak cry
  • Between 2 and 8: May not be able to control food intake, overeat if not watched, low metabolism
  • Low to moderate IQs: Learning disabilities
  • Short stature
  • Small hands and feet
  • Scoliosis
  • Sleep disturbances: Sleepy during the day
  • Behaviors: OCD, skin picking, hard time controlling emotions

Cause and genetics

Incidence

Prader-Willi Syndrome is found in about one out of every 15,000 people. The syndrome has been found in about the same amount of males as females, and in all ethnicities.

Treatment

A team of doctors will work together to help the individual with the disorder.


Children will need:

  • Good nutrition for Infants: High calorie formula or special feeding methods
  • Human growth hormone treatment: Helps with growth and helps change food into energy, improves muscle tone and decreases fat
  • Sex hormone treatment: When child hits puberty so that bones don't begin to thin
  • Healthy diet: Reduced-calorie to help control weight
  • Treatment for sleep disturbances: May help to decrease sleepiness during the day and behavioral problems
  • Physical Therapy, Speech Therapy, Occupational Therapy, Developmental Therapy
  • Mental Health Care: OCD, mood disorder, medication for behavioral problems


Adults:

  • Many live in residential care facilities
  • Resources and services through organizations
  • Health care provider can help with the transition to adult medical care

Prognosis

Individuals with Prader-Willi Syndrome may be able to have a normal life expectancy if their weight is controlled and there are no other complications. The earlier that the disorder is diagnosed, the better the chance is for the individual to stay healthy. It is important for a treatment plan to be put into place to help the individual continue to be healthy. Caregivers may need guidance on following through with the treatment plan and keeping the home environment controlled.

Educational Implications

Some individuals with Prader-Willi Syndrome also have learning disabilities. The individuals may also have a hard time with short-term memory, paying attention, reading, language and auditory processing.


Children with Prader-Willi Syndrome may socialize better with adults than other children their age. These children must have supervision especially around food, and when interacting with other peers their age.

References


About PWS. (2014, January 1). Retrieved November 15, 2014, from

http://www.fpwr.org/about-prader-willi-syndrome/



Diseases and Conditions: Prader-Willi syndrome. (2014, January 1). Retrieved November 15,2014, from http://www.mayoclinic.org/diseases-conditions/prader-willisyndrome/basics/definition/con-20028982



Prader-Willi Syndrome - Description. (2006, January 1). Retrieved November 15, 2014, from http://www.medicalhomeportal.org/diagnoses-and-conditions/prader-willi-

syndrome/description


Prader-Willi Syndrome Information System. (2014, January 1). Retrieved November 15,

2014, from http://education.state.mn.us/MDE/054037