Skip to Main Content

++

  • 759.81 Prader-Willi syndrome1

++

  • Q87.1 Congenital malformation syndromes predominantly associated with short stature2

++
++

Description

++

  • Lack of impression from several imprinted genes3
  • Genetic disorder characterized by
    • Specific facial features such as almond shaped eyes
    • Hypotonia
    • Hypogonadism
    • Strabismus5
    • Short stature
    • Cognitive deficits
    • Inability to regulate appetite
    • Males with undescended testicles6
    • Small hands and feet5,6

++

Essentials of Diagnosis

++

  • Two stages3,4
    • Stage 1 occurs during infancy with hypotonia and poor suck/swallow reflex that may result in failure to thrive
    • Stage 2 generally begins about 2 years of age with lack of satiety progressing to obesity

++

General Considerations

++

  • Growth hormone deficiency5
  • Patients often develop complications from obesity and osteoporosis as they age8

++

Demographics

++

  • 1 in 15,000 individuals4
  • Affects females and males equally

++

Signs and Symptoms

++

  • Poor suck/swallow ability at birth
  • Hypotonia in infancy
  • Specific facial features such as almond shaped eyes
  • Hypogonadism
  • Strabismus5
  • Short stature
  • Obesity
  • Cognitive deficits
  • Inability to regulate appetite
  • Hypogenitalism; males with undescended testicles6
  • Small hands and feet5,6
  • Developmental delay

++

Functional Implications

++

  • May require gastrostomy tube5
  • Cognitive impairment
  • Learning disabilities
  • Poor speech articulation
  • Behavioral problems7
  • Obsessive-compulsive disorder7
  • Scoliosis7

++

Possible Contributing Causes

++

  • Deletion in portion of chromosome 15q115
  • Possibly due to dysfunction of hypothalamus4

++

Differential Diagnosis8

++

  • Obsessive-compulsive disorder
  • Failure to thrive
  • Fragile X syndrome
  • Growth hormone disorder

++

Laboratory Tests

++

  • DNA methylation analysis4,5
  • Magnetic resonance imaging (MRI) to assess pituitary gland8

++

Imaging

++

++

  • Deletion in portion of chromosome 15q11 detected by FISH or microarray3

++

Medication

++ ++

  • Orthopedist for possible scoliosis
  • Endocrinologist
  • Geneticist
  • Nutritionist
  • Ophthalmologist
  • Gastroenterologist
  • Psychiatrist
  • Occupational therapist
  • Speech therapist

++

  • Poor head control
  • Poor trunk control
  • Inability to sit independently

++ ++

  • Behavior modification
  • Developmental activities
    • Acquisition of motor milestones through facilitation
  • Therapeutic exercise
    • Strengthening
    • Aerobics

++

  • Sustain prone position on elbows ...

Want remote access to your institution's subscription?

Sign in to your MyAccess profile while you are actively authenticated on this site via your institution (you will be able to verify this by looking at the top right corner of the screen - if you see your institution's name, you are authenticated). Once logged in to your MyAccess profile, you will be able to access your institution's subscription for 90 days from any location. You must be logged in while authenticated at least once every 90 days to maintain this remote access.

Ok

About MyAccess

If your institution subscribes to this resource, and you don't have a MyAccess profile, please contact your library's reference desk for information on how to gain access to this resource from off-campus.

Subscription Options

AccessPhysiotherapy Full Site: One-Year Subscription

Connect to the full suite of AccessPhysiotherapy content and resources including interactive NPTE review, more than 500 videos, Anatomy & Physiology Revealed, 20+ leading textbooks, and more.

$595 USD
Buy Now

Pay Per View: Timed Access to all of AccessPhysiotherapy

24 Hour Subscription $34.95

Buy Now

48 Hour Subscription $54.95

Buy Now

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.