精神发育迟滞的系统方法ppt课件.pptVIP

A Systematic Approach to Mental Retardation;?????;????? ????;????? ????;Mental Retardation: Prevalence;FAQ’s in Mental retardation;????? ????? ??????;Some causes of mental retardation;????? ?????? ?????? ????; ; ??????? ????? ??????????? ??????? ????? ???????????;Down syndrome 1/600 Kleinfelter 1/800 males Triple X 1/800 females Turner 1/5000 females Trisomy 18 1/3500 Trisomy 13 1/5000 TOTAL ~1/285 ;Down syndrome;?????????? ????????????;Microdeletions: Examples;Velo-cardio-facial syndrome (Shprintzen-DiGeorge syndrome) ;VCFS;;Unique telomere region (site of FISH probes);Subtelomeric rearrangements: A frequent cause of idiopathic mental retardation (10.6%);Telomer painting;Motor retardation 100 % Severe mental retardation 96 % Seizures 75 % Specific facial dysmorphy 100 %;?????????? ?????? ??????????:;;????? ???? ????? ?? ???????? X;Fragile X;Fragile X: Main findings;Fragile X: Molecular basis;???? ???? ?????? ?? ??? ?? ????? ???? ?? ??????;??????? ??????;Russel –Silver Syn.;?????? ? PDD;????? ?????? ??????? ? PDD;Inborn Errors of Metabolism;“Flag sign” of protein malnutrition (Lysinurgic (Dibasic) aminoaciduria) ;?????? ????????????;Tay Sachs Disease Neimann- Pick Disease Infantile Gaucher Disease Lipofuscinosis (NCL);Smith-Lemli-Opitz Syndrome (SLO); Smith Lemli OpitzDiagnosis: Plasma 7-dehydrocholesterol;Carbohydrate Deficient Glycoprotein Syndromes (CDG);Isotransferrins Measured by Isoelectric Focussing ;CDG Type 3: Fucosilation failure;Peroxisomal DisordersInfantile Refusm DiseaseNeonatal AdrenoleukodystorphyZellweger/Zellweger like;Recommendations for work-up;Prader- Willi;???? ????? ?????? ???? ??????;Mental Retardation: “Routine”;Complete blood count (CBC);Inborn errors of metabolism“Routine biochemistry”;Inborn Errors of Metabolism?????? ????????, ??? ?‘;Inborn