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1、ASystematicApproachtoMentalRetardationMosheFrydmanMD,TheDanekGertnerInstituteofHumanGenetics,theChaimShebaMedicalCenter???????????????????????????????????????????????????????????????????????????????????????????????????????????????????????????????????????????"??????????????????
2、?,??????????????????????????????????????????????????????????????????????????????????????????:AmericanAssociationonMentalRetardation,1992?????????AmericanAssociationonMentalRetardation,1992?????????????????????????????????????????????????????????????????????????????????????????
3、?????????????????????-?????????MentalRetardation:PrevalenceUndertheseassumptions:2.3%willhaveanIQbetween50and700.38%ofthepopulationwillhaveanIQ<50Assumptions:TheaverageIQinthepopulationis100Intelligencefollowsanormaldistribution15IQpointsequalonestandarddeviation1.14%ofallscho
4、olchildrenintheUS,areretardedMassey&McDermott,MMWR41:61-65,1995FAQ’sinMentalretardationWhyandhowdidithappen?Whatistheriskinfuturepregnancies,andcanrecurrencebeprevented?Whatistheprognosisandfuturecomplications?Whatcanbedonetocureortotreat?Whatarethereproductiveoptions?Whatisth
5、eimpactonfuturegenerations????????????????????????????3???????????????????????????????????????????????????????????????SomecausesofmentalretardationMetabolicandendocrinedisorders1-5%Structuralbrainanomalies7-17%Complicationsofprematurity2-10%Unknown30-50%Chromosomalaberrations4
6、-28%Geneticsyndromes3-7%Monogenicdisorders3-9%Environmentalfactors5-13%Cultural-familialretardation3-12%?????????????????????????????????????????????????????????:?????????????????????,???????????????????????????????????????????????3????????????????????????????????????????"????
7、????"???????"??????"???????????????????????????????????????????????????????????????????????????????????????????-????????????-?????,??????????????????????????Downsyndrome1/600Kleinfelter1/800malesTripleX1/800femalesTurner1/5000femalesTrisomy181/3500Trisomy131/5000TOTAL~1/285???
8、??????????????????????????????????Downsyndrome???????????????