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.

What are the causes for 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 for 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

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.

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 for 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.

REFERENCES

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.

  • Condition: Children and Adolescents with Prader-Willi Syndrome (PWS)
  • Journal: Nutrients
  • Treatment Used: Bifidobacterium Animalis Subsp. Lactis Strain (BPL1)
  • Number of Patients: 39
  • Published —
This study evaluated Bifidobacterium animalis subsp. lactis strain (BPL1) in children and adolescents with Prader-Willi syndrome (PWS), a rare genetic disorder.
  • Condition: Prader-Willi Syndrome
  • Journal: Orphanet journal of rare diseases
  • Treatment Used: Growth Hormone Treatment
  • Number of Patients: 43
  • Published —
The study researched the outcomes of growth hormone treatment for adults with Prader-Willi syndrome.
Clinical Trial
  • Status: Not yet recruiting
  • Phase: Phase 2
  • Intervention Type: Other, Dietary Supplement
  • Participants: 14
  • Start Date: March 15, 2021
Mitochondrial Complex I Dysfunction in Prader Willi Syndrome: A New Therapeutic Target
Clinical Trial
  • Status: Not yet recruiting
  • Intervention Type: Biological
  • Participants: 300
  • Start Date: March 15, 2021
Circulating Levels of Ghrelin in Patients With a Rare Disease Associated With Intellectual Disability, and Hyperphagia, and / or Overweight, and / or Obesity