By: Shelby Janowski
What is it?
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
- Sleep disturbances: Sleepy during the day
- Behaviors: OCD, skin picking, hard time controlling emotions
Cause and genetics
Error in one or more genes. The specific genes that cause the syndrome have not yet been identified. The general area that is affected is in chromosome 15.
Paternal genes that are supposed to be dominant are not. There are three reasons: paternal genes on chromosome 15 are not there, the individual has two copies of chromosome 15 from their mother and none from their father, and there may be a problem in the paternal genes on chromosome 15.
Prader-Willi Syndrome stops the hypothalamus portion of the brain from functioning normally. The job of this area of the brain is to control hunger and thirst, and to disperse hormones that will allow for the other substances that are responsible for growth and development to be set free. If the hypothalamus is not working because of the problem with chromosome 15, then each of it's responsibilities will not be upheld and will result in the symptoms of Prader-Willi Syndrome.
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
- Many live in residential care facilities
- Resources and services through organizations
- Health care provider can help with the transition to adult medical care
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.
About PWS. (2014, January 1). Retrieved November 15, 2014, from
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-
Prader-Willi Syndrome Information System. (2014, January 1). Retrieved November 15,
2014, from http://education.state.mn.us/MDE/054037