Annotation: Rett syndrome: recent progress and implications for research and clinical practice

摘要: Background: Rett syndrome was first described 40 years ago as a profoundly disabling condition in girls. Method: Over the last 20 years' national surveys, neuropathological and neurophysiological research have steadily improved understanding of its character natural history. Results: In two identification causative mutations gene methyl CpG binding protein 2 (Xq28) has led to sudden expansion knowledge about underlying developmental disorder, with important implications for clinical practice new opportunities develop more effective intervention. Conclusions: It is now clear that disorder occurs males females there wide range severity.