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  • 759.81 Prader-Willi syndrome1

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

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Description

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  • 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

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Essentials of Diagnosis

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  • 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

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General Considerations

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

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Demographics

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

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Signs and Symptoms

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  • 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

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Functional Implications

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

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Possible Contributing Causes

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

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Differential Diagnosis8

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

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Laboratory Tests

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

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Imaging

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

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Medication

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

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

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

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  • Sustain prone position on elbows ...

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