rett syndrome website version分析课件

《rett syndrome website version分析课件》由会员上传分享，免费在线阅读，更多相关内容在教育资源-天天文库。

1、RETTSYNDROMEANUPDATERosemaryMarksDevelopmentalPaediatricianStarshipChildrensHospitalSUMMARYBackgroundRecognitionofRettsyndromeManagementofRettSyndromeRETTSYNDROMEDescribedin1966byAndreasRettFirstdescribedinEnglishbyHagbergin19831999–mutationsinMECP2genereportedMethylCpGbi

2、ndingprotein2CDKL5cyclin-dependentkinaselike5NetrinG11in10000femalesRETTPHENOTYPERettsyndromeNormalearlydevelopment*Withdrawnautisticbehaviour;lossoflanguageLossofhand-skills;stereotypichandmovementsDecelerationofheadgrowthSeizuredisorderProgressivecoursewithwelldescribeds

3、tagesCautionreprognosisasbroaderphenotyperecognisedRECOGNITIONThinkRettListentotheparentsAllgirlswithautisticbehaviourAllgirlswithhistoryofdevelopmentalstagnationorlossofskillsaroundoneyearofageBoyswithneonatalencephalopathyClinicalcriteriaforclassicalRettNecessarycriteria

4、1.Normalprenatalandperinatalhistory*2.Normalpsychomotordevelopmentforthefirst6months3.Normalheadcircumferenceatbirth4.Postnataldecelerationofheadgrowthinmostindividuals5.Lossofpurposefulhandskillsbetween6monthsand2½years6.Handstereotypies7.Evolvingsocialwithdrawal,communic

5、ationdysfunction,lossofacquiredspeech,andcognitiveimpairment8.ImpairmentordeteriorationoflocomotionClinicalcriteriaforclassicalRettSupportivecriteria1.Breathingdisturbancesduringwakinghours2.Bruxism3.Impairmentofsleepingpatternfromearlyinfancy4.Abnormalmuscletoneassociated

6、withmusclewastinganddystonia5.Peripheralvasomotordisturbances6.Progressivekyphosisorscoliosis7.Growthretardation8.Hypotrophicsmallandcoldfeetand/orhandsClinicalcriteriaforclassicalRettExclusioncriteria1.Evidenceofastoragedisorderincludingorganomegaly2.Cataract,retinopathy,

7、oropticatrophy3.Historyofperinatalorpostnatalbraindamage4.Confirmedinbornerrorofmetabolismorneurodegenerativedisorder5.AcquiredneurologicaldisorderduetosevereheadtraumaorinfectionEarlynormaldevelopmentIsitreally?AbnormalqualityofmovementTongueprotrusionPosturalstiffnessAsy

8、mmetriceyeopen/closeAbnormalhandandfingermovementsAbnormalfacialexpression/smileTremorSte