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Down Syndrome

Published on Nov 18, 2015

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PRESENTATION OUTLINE

Down Syndrome

MARIANNE DUER
Photo by Connor Tarter

John Langdon Down

  • Essay in 1866
  • Superintendent in asylum
  • Waardenburn and Bleyer in 1930
  • 1959 - Lejeune and Jacobs
John Langdon was a superintendent in an asylum for mentally incapacitated children. He was the first to make the distinction between the facial features of those with the disorder and the other children. Waardenburn and Bleyer developed his theory in the 1930's, saying that it was a genetic disease. It wasn't until Dr. Jerome Lejeune and Patricia Jacobs studied further that they were able to see that it was due to the replication of the 21st chromosome

DIAGNOSIS & ORIGIN

  • Occurs at conception, irreversible
  • Genetic mutation
  • Unknown cause
  • Older women - higher chance
  • Amniotic Fluid Test
Down syndrome occurs at conception and is irreversible. It is a genetic mutation in the 21st chromosome. Each chromosome has a pair. The mutation causes there to be either a piece or a whole of a 3rd chromosome. The underlying cause is unknown, and it is not due to anything the mother or father did. Older women who have children (older than 35) are more susceptible to having a baby with Down syndrome. To 'diagnose' if a baby has Down syndrome, there is a test where they draw some of the amniotic fluid out to see the color of it and determine if the baby has the disorder. There is no treatment for trisomy 21

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Signs & symptoms

  • Decreased muscle tone
  • Flattened nose
  • Small ears and mouth
  • Upward slanting eyes
  • Short hands and fingers
There are not many signs for a person with Down syndrome, however, their physical appearance is different. Among other things, people with the disorder may have upward slanting eyes and small ears and mouth. Their physical development is slower than most as well as their social development. Although many can read and write and speak well, they are not like many others.

KEEP IN MIND

  • Patient Sensitivity
  • Morals and Values
  • Respect
It is imperative to remember that those affected by this syndrome are still humans and they continue to have feelings. Most of them feel thing much more deeply, so it is important to know that you must respect them like equals, and keep patient sensitivity in mind when in the field. Your morals and values must always be intact and they should not recieve any less attention because of an unpreventable condition.