Progress of diagnosis and treatment of Rett syndrome / 中华实用儿科临床杂志

ABSTRACT

Rett 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.