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ICD-9-CM Code

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  • 759.81 Prader-Willi syndrome1

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ICD-10-CM Code

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

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Preferred Practice Pattern

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Key Features

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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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Clinical Findings

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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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Means of Confirmation or Diagnosis

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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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  • Fluorescence in situ hybridization (FISH)

  • Chromosomal Microarray Analysis (CMA)

  • Standard radiograph to screen for scoliosis

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Findings and Interpretation

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

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Treatment

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Medication

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  • Human growth hormones 8

    • Saizen

    • Genotropin

    • Humatrope

    • Nutropin

    • Serostim

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Referrals/Admittance

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  • Orthopedist for possible scoliosis

  • Endocrinologist

  • Geneticist

  • Nutritionist

  • Ophthalmologist

  • Gastroenterologist

  • Psychiatrist

  • Occupational therapist

  • Speech therapist

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Impairments

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  • Poor head control

  • Poor trunk control

  • Inability to sit independently

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Tests and Measures

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  • Bayley Scales ...

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