Created by: LALO Leiel Eden
Informatics: Presentation tools 2016, SOTE
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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