{"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}
引用次数: 0

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.
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
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。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
来源期刊
自引率
0.00%
发文量
0
期刊最新文献
Perception of the utilization of teaching methods by student nurses in South-east Nigeria: A Cross-sectional study Effectiveness of an Educational Intervention on Prevention of health problems due to Internet addiction among students of selected college of New Delhi Gossypiboma Computer Vision Syndrome (CVS): A Brief Overview Effectiveness of an awareness programme to assess the knowledge regarding Gaming disorder among adolescents in selected school of Hubballi
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1