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Down Syndrome

Down Syndrome. Down Syndrome History. Discovered 1866 by Dr. John Langdon down Originally called Mongaloids Named after the Mongolians (thought to have same characteristics) 1970 changed to down syndrome by USA Down Syndrome also known as trisomy 21. . What Down Syndrome effects.

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Down Syndrome

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  1. Down Syndrome

  2. Down Syndrome History • Discovered 1866 by Dr. John Langdon down • Originally called Mongaloids • Named after the Mongolians (thought to have same characteristics) • 1970 changed to down syndrome by USA • Down Syndrome also known as trisomy 21

  3. . What Down Syndrome effects • Effects chromosomes. • Associated alleles or traits. • Nondisjunction--one cell gets 24 chromosomes the other gets 22. If they merge with a normal egg or sperm the result is usually down syndrome. • Nondisjunction = approximately 95% of all down’s cases.

  4. 3-4% are due to Robertsonian translocation. • Robertsonian translocation = breakage in two chromosomes, usually 14th and 21st chromosomes. Part of the 14th chromosome is replaced by part of the 21st chromosome. • Normal number of chromosomes can still have triplication of 21st material.

  5. Extra set of genes leads to over expression of the affected genes (21st ). • Small portion of the 21st gene actually has to be tripled to see effects of downs called the “critical region.” • Downs is something you are born with.

  6. Downs has certain features that make it very recognizable such as a: flat face, short neck, small ears, slanted eyes, small mouth, weak muscles, loose joints and some sort of mental retardation. • People with downs may also be born with other disorders such as cardiac, immune, and breathing problems.

  7. At risk people • Older mothers over age 38 • Older fathers over age 40 • Siblings with downs increases chances of having downs to 1-100 • Family history

  8. How it affects EMS • Have to treat pt’s different. • May have to have longer on scene times • Explain things better • Make everything a game and friendly • Remember that they may have the mental capabilities of a 6 year old although they are 20ish.

  9. resources • http://health.yahoo.com/children-genetic/down-syndrome-topic-overview/healthwise--hw167778.html • http://www.kidshealth.org/parent/medical/genetic/down_syndrome.html • http://www.kidshealth.org/kid/health_problems/birth_defect/down_syndrome.html • http://www.nlm.nih.gov/medlineplus/downsyndrome.html • http://www.ds-health.com/ • http://www.ds-health.com/trisomy.htm

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