 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

 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 14 th and 21 st chromosomes. Part of the 14 th chromosome is replaced by part of the 21 st chromosome.  Normal number of chromosomes can still have triplication of 21 st material.

 Extra set of genes leads to over expression of the affected genes (21 st ).  Small portion of the 21 st 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.

 Older mothers over age 38  Older fathers over age 40  Siblings with downs increases chances of having downs to  Family history

 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.

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