Peds

Prader-Willi Syndrome

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Prader-Willi Syndrome

  • Epidemiology
  1. Incidence: 1 in 16,000 births
  2. Most common form of Genetic Syndrome related Obesity
  • Pathophysiology
  1. Associated with defect on long arm of Chromosome 15
  • Signs
  1. Newborn
    1. Hypotonia
    2. Poor sucking reflex
    3. Diminished cry
    4. Somnolence
  2. Infant
    1. Feeding difficulties and Failure to Thrive
    2. Increased eating starts after 1 year
  3. Early childhood (ages 1 to 6)
    1. Hyperphagia
    2. Rapid weight gain
  4. Classic dysmorphic facial features
    1. Narrow face at temples
    2. Almond shaped eyes
    3. Mouth corners turn downward
    4. Narrow Nasal Bridge
    5. Strabismus
    6. Thin upper lip
  5. Other features
    1. Morbid Obesity (onset after 12 months)
    2. Developmental Delay and learning disabilities
    3. Short Stature
    4. Hypogonadism (e.g. Cryptorchidism, small Testes)
    5. Skin Hypopigmentation
  1. Indications: All suspected cases of Prader-Willi
  2. Test Sensitivity: 100%
  3. Tests (both are done)
    1. High resolution karyotype
    2. Methylation analysis (specific for PWS)
  • Associated conditions
  1. Sleep Apnea
  • Management
  1. Consultations
    1. Ophthalmology for Strabismus and Myopia
    2. Pediatric endocrinology for possible Growth Hormone
    3. Developmental pediatrician
    4. Speech therapy
    5. Physical therapy and occupational therapy
  2. Conditions to observe for and manage
    1. Failure to Thrive as infant
    2. Hypoventilation
    3. Respiratory infections
  3. Preventive strategies
    1. Closely supervise dietary intake
    2. Daily Physical Activity
  • Resources
  1. Prader-Willi Syndrome Association
    1. http://www.pwsausa.org
  • References
  1. Wattendorf (2005) Am Fam Physician 72(5):827-30 [PubMed]
  2. Wigren (2003) Child Care Health Dev 29:449-56 [PubMed]