Learn About Prader-Willi Syndrome

What is the definition of Prader-Willi Syndrome?

Prader-Willi syndrome is a disease that is present from birth (congenital). It affects many parts of the body. People with this condition feel hungry all the time and become obese. They also have poor muscle tone, reduced mental ability, and underdeveloped sex organs.

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What are the causes of Prader-Willi Syndrome?

Prader-Willi syndrome is caused by a missing gene on chromosome 15. Normally, parents each pass down a copy of this chromosome. The defect can occur in a couple of ways:

  • The father's genes are missing on chromosome 15
  • There are defects or problems with the father's genes on chromosome 15
  • There are two copies of the mother's chromosome 15 and none from the father

These genetic changes occur randomly. People who have this syndrome usually do not have a family history of the condition.

What are the symptoms of Prader-Willi Syndrome?

Signs of Prader-Willi syndrome may be seen at birth.

  • Newborns are often small and floppy
  • Male infants may have undescended testicles

Other symptoms may include:

  • Trouble feeding as an infant, with poor weight gain
  • Almond-shaped eyes
  • Delayed motor development
  • Narrowed head at the temples
  • Rapid weight gain
  • Short stature
  • Slow mental development
  • Very small hands and feet in comparison to the child's body

Children have an intense craving for food. They will do almost anything to get food, including hoarding. This can result in rapid weight gain and morbid obesity. Morbid obesity may lead to:

  • Type 2 diabetes
  • High blood pressure
  • Joint and lung problems
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What are the current treatments for Prader-Willi Syndrome?

Obesity is the greatest threat to health. Limiting calories will control weight gain. It is also important to control a child's environment to prevent access to food. The child's family, neighbors, and school must work together, because the child will try to get food wherever possible. Exercise can help a child with Prader-Willi syndrome gain muscle.

Growth hormone is used to treat Prader-Willi syndrome. It can help:

  • Build strength and agility
  • Improve height
  • Increase muscle mass and decrease body fat
  • Improve weight distribution
  • Increase stamina
  • Increase bone density

Taking growth hormone therapy may lead to sleep apnea. A child who takes hormone therapy needs to be monitored for sleep apnea.

Low levels of sex hormones may be corrected at puberty with hormone replacement.

Mental health and behavioral counseling are also important. This can help with common problems such as skin picking and compulsive behaviors. Sometimes, medicine may be needed.

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What are the support groups for Prader-Willi Syndrome?

The following organizations can provide resources and support:

  • Prader-Willi Syndrome Association -- www.pwsausa.org
  • Foundation for Prader-Willi Research -- www.fpwr.org
What is the outlook (prognosis) for Prader-Willi Syndrome?

The child will need the right education for their IQ level. The child will also need speech, physical, and occupational therapy as early as possible. Controlling weight will allow for a much more comfortable and healthy life.

What are the possible complications of Prader-Willi Syndrome?

Complications of Prader-Willi can include:

  • Type 2 diabetes
  • Right-sided heart failure
  • Bone (orthopedic) problems
When should I contact a medical professional for Prader-Willi Syndrome?

Call your health care provider if your child has symptoms of this condition. The disorder is frequently suspected at birth.

What are the latest Prader-Willi Syndrome Clinical Trials?
GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age

Summary: Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive medical care from 3-4 medical specialists. Increased...

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A Randomized, Double-Blind, Placebo-Controlled Phase 2 Study to Evaluate the Safety and Efficacy of Pitolisant in Patients With Prader-Willi Syndrome, Followed by an Open Label Extension

Summary: The primary objective of this study is to evaluate the safety and efficacy of pitolisant compared with placebo in treating excessive daytime sleepiness (EDS) in patients with Prader Willi syndrome (PWS) ages 6 to 65 years.

What are the Latest Advances for Prader-Willi Syndrome?
The Efficacy, Safety, and Pharmacology of a Ghrelin O-Acyltransferase Inhibitor for the Treatment of Prader-Willi Syndrome.
Genetic analysis of a case with mosaicism of a small supernumerary marker chromosome derived from idic(15).
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Who are the sources who wrote this article ?

Published Date: March 25, 2020
Published By: Charles I. Schwartz MD, FAAP, Clinical Assistant Professor of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, General Pediatrician at PennCare for Kids, Phoenixville, PA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

What are the references for this article ?

Cooke DW, DiVall SA, Radovick S. Normal and aberrant growth in children. In Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ eds. Williams Textbook of Endocrinology. 14th ed. Philadelphia, PA: Elsevier; 2020:chap 25.

Escobar O, Viswanathan P, Witchel SF. Pediatric endocrinology. In: Zitelli, BJ, McIntire SC, Nowalk AJ, eds. Zitelli and Davis' Atlas of Pediatric Diagnosis. 7th ed. Philadelphia, PA: Elsevier; 2018:chap 9.

Kumar V, Abbas AK, Aster JC. Genetic and pediatric diseases. In: Kumar V, Abbas AK, Aster JC, eds. Robbins Basic Pathology. 10th ed. Philadelphia, PA: Elsevier; 2018:chap 7.