摘要Rett综合征(RTT)是一组以语言倒退、手部失用及刻板样动作,伴有严重精神运动发育迟滞及倒退的疾病,出生6～18个月起病,大多数累及女性.MECP2基因突变与RTT发病密切相关.2010年新的RTT诊断标准为全球范围内RTT的诊治及临床研究提供更新的统一基础.其临床治疗尚无重大突破,但部分极有价值的治疗基础研究正在进行中.现综述RTT的遗传学研究、临床诊断与治疗研究进展,促进大家对RTT新诊断标准及基础研究的认识.

abstractsRett syndrome (RTT) is a disorder characterized by regression of spoken language and hand use,distinctive hand stereotypies,accompanying with severe psychomotor developmental retardation and retrogression.RTT becomes recognizable at 6-18 months and female are absolutely susceptive.MECP2 mutations are closely related to the development of RTT.Revised diagnostic criteria for RTT (2010) ensure a high degree of homogeneity in cases enrolled in treatment and clinical studies throughout the world.As for the treatment,no crucial advancement has been clinically applied recently,but some valuable basic research is in progress.This paper reviews the genetic research,clinical diagnosis and treatment of RTT,and promotes understanding of the new diagnostic criteria and basic research.