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Down Syndrome

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Down Syndrome. Identified as a chromosomal disorder ... Named after John Langdon Down, the first doctor to identify the syndrome ... – PowerPoint PPT presentation

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Title: Down Syndrome


1
Down Syndrome
2
Down Syndrome
  • Identified as a chromosomal disorder
  • Caused by presence of all or part of an extra
    21st chromosome
  • Named after John Langdon Down, the first doctor
    to identify the syndrome
  • One of the leading clinical causes of cognitive
    delay

3
Signs / Symptoms
  • Low muscle tone
  • Flat facial profile
  • Upwardly slanted eyes
  • Short stature
  • Small nose with low nasal bridge
  • Spots at the periphery of the iris
  • Mental retardation
  • Delay in physical, intellectual, and language
    development
  • 30-50 have heart defects
  • 8-12 have gastrointestinal tract abnormalities

4
Causes of Down Syndrome
  • Chromosomal abnormality
  • Extra part or whole 21st chromosome

5
Incidence/Prevalence
  • 1 in every 800 - 1,000 live births
  • Occurs in all ethnic and economic groups
  • Maternal age influences chances
  • Under 30 Less than 1 in 1,000
  • Age 35 1 in 400
  • Age 40 1 in 105
  • Age 49 1 in 12

6
Testing/Prognosis
  • Prenatal screening
  • Early intervention
  • Specialized programs
  • Speech therapists
  • Occupational therapists
  • Social workers
  • Live span of 50
  • Varies between ethnic and socio-economic groups
  • Many individuals with Down Syndrome go on to have
    jobs and live independently

7
Down Syndrome
  • For more information
  • http//www.nichd.nih.gov/publications/pubs/downsyn
    drome.cfmDownSyndrome (National Institutes of
    Health)
  • http//www.healthcare.uiowa.edu/cdd/patients/downs
    yndrome.asp (University of Iowa Health Care)
  • http//www.nlm.nih.gov/medlineplus/downsyndrome.ht
    ml (MedlinePlus Medical Encyclopedia)
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