Down Syndrome

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Down Syndrome
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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

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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

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Causes of Down Syndrome

• Chromosomal abnormality
• Extra part or whole 21st chromosome

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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

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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

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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)