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Prader-Willi syndrome

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    AMA Citation
    Prader-Willi syndrome. In: Shamus E. Shamus E(Ed.),Ed. Eric Shamus.eds. Quick Answers: Physiotherapy. McGraw-Hill; Accessed July 02, 2020. https://accessphysiotherapy.mhmedical.com/content.aspx?bookid=855&sectionid=49734969
    APA Citation
    Prader-willi syndrome. Shamus E. Shamus E(Ed.),Ed. Eric Shamus. (2012). Quick Answers: Physiotherapy. McGraw-Hill. https://accessphysiotherapy.mhmedical.com/content.aspx?bookid=855&sectionid=49734969
    MLA Citation
    "Prader-Willi syndrome." Quick Answers: Physiotherapy Shamus E. Shamus E(Ed.),Ed. Eric Shamus. McGraw-Hill, 2012, https://accessphysiotherapy.mhmedical.com/content.aspx?bookid=855&sectionid=49734969.

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  • 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 ...

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