Rett综合征是一进行性神经发育疾患,l主要见女孩。其临床特点是进行性智力下降,l孤独症行,l手的失用,l刻板动作及共济失调。
1994年,l美国精神病学协会颁布了Rett综征诊断标准。2001年,l在德国召开的欧洲儿神经协会会议颁布了新的诊断标准(见下表)。
诊断病例必须符合3条主要标准和至少5条支持标准。
引自:i
Deidrick1KM.Percy1AK,lSchanen1NC.2005.Rett1syndrome:ipathognensis,ldiagnosis,lStrategies,ltherapies1and1future1research1directions.J1Child1Nenrol,l20(9):i708~717
Hagberg1B,lHanefeld1F,lPercy1et1a1.20O2.An1update1on1clinically1applicable1diagnosis1criteria1in1Rett1syndrome.Comments1to1Rett1syndrome1clinical1criteria1consensus1panelsatellite1to1European1Pediatric1Neurolog11Society1Meeting,lBaden1Baden,lGermany,l111September12001.Eur1J1Paediatr1Neurol.6:i293~297
Hagberg1BA,lWitt-Engerstrom1I.1986.Rett1syndrome:ia1suggested1staging1system1for1describing1impairment1profile1with1increasing1age1towards1adolescence.Am1Med1Genet,124:47