1. Clinical diagnostic criteria for typical and atypical variants of Rett syndrome in children
- Author
-
Array Я. Волгина
- Subjects
Mental development ,Pediatrics ,medicine.medical_specialty ,business.industry ,CDKL5 ,Rett syndrome ,the clinical diagnostic criteria for typical and atypical variant ,Gene mutation ,medicine.disease ,RJ1-570 ,foxg1 ,FOXG1 ,children ,Pediatrics, Perinatology and Child Health ,Hereditary Diseases ,medicine ,cdkl5 ,business ,Psychiatry ,rett syndrome ,gene mutations mesr2 - Abstract
Rett Syndrome is one of the most socially significant neuropsychiatric hereditary diseases in children. This syndrome is mainly found in girls: its frequency is 1:10000–15000. Currently mutations in X-linked gene MESR2 considered as the main cause of the syndrome. Diagnosis of typical and atypical variants of the syndrome is based on the use of clinical criteria, determining gene mutations МЕСР2, CDKL5 and FOXG1. In 2010, the Expert Consortium for Rett syndrome have revised the existing diagnostic criteria for the syndrome and come to a new consensus. If there is a regression of mental development for the diagnosis of Rett syndrome exemplary embodiment only four basic criteria for the diagnosis of atypical variant — two of the four main criteria, and five of the eleven additional criteria.
- Published
- 2016