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Condition/Disorder Synonyms

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  • Down's syndrome

  • Trisomy 21

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ICD-9-CM Code

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  • 758.0 Down's syndrome

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ICD-10-CM Codes

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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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Preferred Practice Pattern

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Key Features

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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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Clinical Findings

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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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Means of Confirmation or Diagnosis

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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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Referrals/Admittance

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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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Impairments

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  • Decreased strength, especially in trunk muscles

  • Dependent for ADLs

  • Inability to roll

  • Inability to commando crawl ...

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