{"title":"Rett Syndrome","authors":"Namrata Negi","doi":"10.52711/2454-2660.2023.00041","DOIUrl":null,"url":null,"abstract":"Rett syndrome is a rare developmental disorder which affects the brain development and the symptoms grows as the age progresses. It is first seen at the age of 6-18 months and predominantly seen in females; cases with male children are limited. 95% of the Rett syndrome cases are known to be due to mutation in MeCP2 genes present in the X chromosome. Approximately 3, 50,000 cases have been reported worldwide and the cases are growing. In India, 6 cases of Rett syndrome were encountered in the year 1992 and 1993 but was misdiagnosed; correctly reported in the year 1994. The cure is unknown for the syndrome but multidisciplinary approach helps in addressing the symptoms effectively.","PeriodicalId":197062,"journal":{"name":"International Journal of Nursing Education and Research","volume":"116 4 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2023-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Journal of Nursing Education and Research","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.52711/2454-2660.2023.00041","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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摘要

Rett综合征是一种罕见的影响大脑发育的发育障碍,症状随着年龄的增长而增加。它首先在6-18个月大时出现,主要见于女性;男童病例有限。已知95%的Rett综合征病例是由于存在于X染色体上的MeCP2基因突变。全世界报告了大约35万例病例,而且病例还在增加。在印度,1992年和1993年发现了6例Rett综合征,但被误诊;1994年正确报道。该综合征的治疗方法尚不清楚,但多学科方法有助于有效地解决症状。
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Rett Syndrome
Rett syndrome is a rare developmental disorder which affects the brain development and the symptoms grows as the age progresses. It is first seen at the age of 6-18 months and predominantly seen in females; cases with male children are limited. 95% of the Rett syndrome cases are known to be due to mutation in MeCP2 genes present in the X chromosome. Approximately 3, 50,000 cases have been reported worldwide and the cases are growing. In India, 6 cases of Rett syndrome were encountered in the year 1992 and 1993 but was misdiagnosed; correctly reported in the year 1994. The cure is unknown for the syndrome but multidisciplinary approach helps in addressing the symptoms effectively.
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