Transcript Down syndromex 166KB Jan 14 2015 08:21:42 AM

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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
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Effects chromosomes.
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Associated alleles or traits.
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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.
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Nondisjunction = approximately 95% of all down’s cases.
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3-4% are due to Robertsonian translocation.
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Robertsonian translocation = breakage in two chromosomes,
usually 14th and 21st chromosomes. Part of the 14th
chromosome is replaced by part of the 21st chromosome.
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Normal number of chromosomes can still have triplication of
21st material.
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Extra set of genes leads to over expression of the affected
genes (21st ).
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Small portion of the 21st gene actually has to be tripled to see
effects of downs called the “critical region.”
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Downs is something you are born with.
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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.
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People with downs may also be born with other disorders
such as cardiac, immune, and breathing problems.
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Older mothers over age 38
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Older fathers over age 40
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Siblings with downs increases chances of having
downs to 1-100
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Family history
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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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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