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  • Down’s syndrome
  • Trisomy 21

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  • 758.0 Down’s syndrome

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  • Q90.0 Trisomy 21, nonmosaicism (meiotic nondisjunction)
  • Q90.1 Trisomy 21, mosaicism (mitotic nondisjunction)
  • Q90.2 Trisomy 21, translocation
  • Q90.9 Down syndrome, unspecified

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Description

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  • Genetic disorder characterized by cognitive impairment and stereotypical physical features
    • Hypotonia
    • Short stature
    • Simian crease
    • Upward-slanting eyes
    • Protruding tongue

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Essentials of Diagnosis

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  • Abnormality of chromosome 21 with three arms rather than two, or translocation

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General Considerations

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  • Associated disorders
    • 50% have heart defects
    • 52% have scoliosis2
    • 60 to 80% have hearing deficits2
    • 90% have umbilical hernia2
    • 15% have atlantoaxial instability3
    • Leukemia
    • Hip subluxation
    • Congenital or adult-onset cataracts or other visual deficits

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  • 1 per 700 births4

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Signs and Symptoms

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  • Hypotonia
  • Ligamentous laxity
  • Protruding tongue
  • Pes planus
  • Obesity
  • Delays
    • Gross motor skills
    • Fine motor skills
    • Oral motor skills
    • Perceptual motor skills
    • Social-emotional skills
    • Speech and language skills

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Functional Implications

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  • Poor head and trunk control as infant
  • Refusal to bear weight on feet
  • Learn to sit independently between 12 to 15 months of age instead of 6 to 8 months5
  • Learn to commando crawl or creep on hands and knees between 2.5 to 4 years of age instead of 9 months5
  • Learn to ambulate between 18 months to 3 years old instead of 12 months5
  • Excessive motion in acetabulofemoral joint resulting in use of extreme hip abduction (“a split”) to transition between sitting and quadruped

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Possible Contributing Causes

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  • Gene deletions
  • Chromosome translocation
  • Chance mutation
  • Angelman syndrome

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Differential Diagnosis

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  • Trisomy 18
  • Prader-Willi syndrome
  • Multiple X chromosomes
  • Zellweger syndrome

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Laboratory Tests

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Imaging

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  • MRI or lateral x-ray to assess for atlantoaxial instability

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Diagnostic Procedures

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  • Electrocardiogram for heart defects

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  • To geneticist for diagnostic tests
  • To cardiologist for cardiac assessment
  • To ophthalmologist for visual assessment
  • To audiologist for hearing assessment
  • To occupational therapist for impaired functional abilities
  • To speech therapy for speech/language deficits
  • To orthotist for musculoskeletal abnormalities, scoliosis
  • Hospital admission for respiratory illness or cardiac repair

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  • Decreased strength, especially in trunk muscles
  • Dependent for ADLs
  • Inability to roll
  • Inability to commando crawl or creep on hands and knees
  • Inability to sit independently
  • Inability to stand
  • Inability to transfer without assistance
  • Inability to ambulate without assistance
  • Poor sitting or standing balance
  • Gait deviations, especially wide-based gait

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