Introducing 

Prezi AI.

Your new presentation assistant.

Refine, enhance, and tailor your content, source relevant images, and edit visuals quicker than ever before.

Loading…
Transcript

Created by: LALO Leiel Eden

Informatics: Presentation tools 2016, SOTE

Thank you for your attention

The origin of the name:

Screening

Why is it called “Down syndrome”?

The risk of delivering a child with Down Syndrome is increasing with maternal age:

  • Screening tests use blood samples and ultrasound measurements to assess your baby's chances of having certain chromosomal problems, including Down syndrome.
  • Screening tests during pregnancy
  • The label “Down syndrome” is not meant to describe those with the condition as being “down” or delayed.

Down-syndrome

  • Blood test - measures the levels of pregnancy-associated plasma protein-A (PAPP-A) and the pregnancy hormone known as human chorionic gonadotropin (HCG). Abnormal levels of PAPP-A and HCG may indicate a problem with the baby.

Common physical signs of Down syndrome:

  • Ultrasound - used to measure a specific area on the back of your baby's neck. When abnormalities are present, more fluid than usual tends to collect in this neck tissue.
  • In the 1860′s, Dr. John Langdon Down published a paper describing a certain subset of his patients at the Royal Earlswood Asylum for Idiots (as it was called at that time).

Summary

  • Down syndrome is named after Dr. John Langdon Down who published a paper describing the symptoms of "Down Syndrome"
  • Flat face with an upward slant to the eyes
  • Short neck
  • Abnormally shaped ears
  • Protruding tongue
  • Small head
  • Deep crease in the palm of the hand with relatively short fingers
  • Poor muscle tone, loose ligaments, excessive flexibility
  • Small hands and feet
  • The cause of down syndrome is a third copy of chromosome 21

Cause of Down syndrome:

  • Because their physical appearance reminded Dr. Down of people from Mongolia, he termed the condition “Mongolian idiocy” (/“Mongoloids")
  • Some languages still use this term
  • The risk of having a child with down syndrome increases with increasing maternal age.
  • Down syndrome is caused by having three copies of the genes on chromosome 21, rather than the usual two.
  • Down syndrome can be detected before birth be a screening test that combines blood test and ultrasound.
  • A person with down syndrome will show a variety of physical signs
  • The parents of the affected individual are typically genetically normal.
  • Many other health conditions are associated with down syndrome.
  • Those who have one child with Down syndrome have about a 1% risk of having a second child with the syndrome, if both parents are found to have normal karyotypes.

Health conditions frequently found in those with Down syndrome:

  • Congenital heart disease
  • Hearing problems
  • Intestinal problems
  • Eye problems
  • Thyroid dysfunctions
  • Skeletal problems
  • Dementia – similar to Alzheimer’s
  • Infectious diseases – due to abnormalities of their immune systems.
  • Etc...

Reference:

  • Wikipedia - en.wikipedia.org/wiki/Down_syndrome
  • www.ds-health.com
  • Maternal age and risk for trisomy 21 assessed by the origin of chromosome non-disjunction: a report from the Atlanta and National Down Syndrome Projects - Emily Graves Allen, Sallie B. Freeman
Learn more about creating dynamic, engaging presentations with Prezi