Progress of diagnosis and treatment of Rett syndrome
10.3760/j.issn.2095-428X.2013.06.018
- VernacularTitle:Rett综合征的诊断和治疗研究进展
- Author:
Wen-Jie HE
1
;
Ying DAI
;
Min ZHONG
Author Information
1. 611430,四川省新津县人民医院儿科
- Keywords:
Rett syndrome;
Psychomotor disorders;
Diagnosis;
Therapy;
MECP2 gene
- From:
Chinese Journal of Applied Clinical Pediatrics
2013;28(6):462-464
- CountryChina
- Language:Chinese
-
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.
