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 • 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.
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.
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.
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.
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
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.
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