Clinical diagnostic criteria for typical and atypical variants of Rett syndrome in children
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 v...
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| Format: | Article |
| Language: | Russian |
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Ltd. “The National Academy of Pediatric Science and Innovation”
2016-11-01
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| Series: | Rossijskij Vestnik Perinatologii i Pediatrii |
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| Online Access: | https://www.ped-perinatology.ru/jour/article/view/403 |
| _version_ | 1797875261913432064 |
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| author | S. Ya. Volgina |
| author_facet | S. Ya. Volgina |
| author_sort | S. Ya. Volgina |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-10T01:44:53Z |
| format | Article |
| id | doaj.art-bea0deadd7554612a23b3948c55ba503 |
| institution | Directory Open Access Journal |
| issn | 1027-4065 2500-2228 |
| language | Russian |
| last_indexed | 2024-04-10T01:44:53Z |
| publishDate | 2016-11-01 |
| publisher | Ltd. “The National Academy of Pediatric Science and Innovation” |
| record_format | Article |
| series | Rossijskij Vestnik Perinatologii i Pediatrii |
| spelling | doaj.art-bea0deadd7554612a23b3948c55ba5032023-03-13T09:12:43ZrusLtd. “The National Academy of Pediatric Science and Innovation”Rossijskij Vestnik Perinatologii i Pediatrii1027-40652500-22282016-11-0161517918210.21508/1027-4065-2016-61-5-179-182382Clinical diagnostic criteria for typical and atypical variants of Rett syndrome in childrenS. Ya. Volgina0ГБОУ ВПО «Казанский государственный медицинский университет им. С.В. Курашова» Минздрава РФ, КазаньRett 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.https://www.ped-perinatology.ru/jour/article/view/403детисиндром реттаклинические диагностические критериитипичный и атипичный вариантымутации генов меср2cdkl5foxg1 |
| spellingShingle | S. Ya. Volgina Clinical diagnostic criteria for typical and atypical variants of Rett syndrome in children Rossijskij Vestnik Perinatologii i Pediatrii дети синдром ретта клинические диагностические критерии типичный и атипичный варианты мутации генов меср2 cdkl5 foxg1 |
| title | Clinical diagnostic criteria for typical and atypical variants of Rett syndrome in children |
| title_full | Clinical diagnostic criteria for typical and atypical variants of Rett syndrome in children |
| title_fullStr | Clinical diagnostic criteria for typical and atypical variants of Rett syndrome in children |
| title_full_unstemmed | Clinical diagnostic criteria for typical and atypical variants of Rett syndrome in children |
| title_short | Clinical diagnostic criteria for typical and atypical variants of Rett syndrome in children |
| title_sort | clinical diagnostic criteria for typical and atypical variants of rett syndrome in children |
| topic | дети синдром ретта клинические диагностические критерии типичный и атипичный варианты мутации генов меср2 cdkl5 foxg1 |
| url | https://www.ped-perinatology.ru/jour/article/view/403 |
| work_keys_str_mv | AT syavolgina clinicaldiagnosticcriteriafortypicalandatypicalvariantsofrettsyndromeinchildren |