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学科主题: 临床医学
题名:
Barriers to Diagnosis of a Rare Neurological Disorder in China-Lived Experiences of Rett Syndrome Families
作者: Lim, Faye1; Downs, Jenny1,2,3; Li, Jianghong1,4; Bao, Xin-Hua5; Leonard, Helen1
关键词: China ; Rett syndrome ; diagnosis ; developing countries ; qualitative research
刊名: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
发表日期: 2012
DOI: 10.1002/ajmg.a.34351
卷: 158A, 期:1, 页:1-9
收录类别: SCI ; SSCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Genetics & Heredity
研究领域[WOS]: Genetics & Heredity
关键词[WOS]: AUTISM SPECTRUM DISORDER ; HONG-KONG ; CHILDREN ; PARENTS ; HEALTH ; DISABILITIES ; INCOME ; MECP2 ; INEQUALITY ; MUTATIONS
英文摘要:

Rett syndrome is a rare neurological disorder affecting girls and usually caused by a mutation on the MECP2 gene. It is estimated that approximately 1,000 girls are born every year in China with Rett syndrome but far fewer have received a diagnosis. Fourteen of 74 Chinese families known to the International Rett Syndrome Phenotype Database participated in this qualitative study. Telephone interviews were conducted in Mandarin to explore pathways to a diagnosis of Rett syndrome in China and associated barriers. Families consulted multiple clinical centers and eventually received a diagnosis at a centrally located hospital. Over the course of this pathway, families encountered lack of knowledge and diagnostic expertise for Rett syndrome at local levels and a heavily over-burdened hospital system. There was a paucity of information available to guide management of this rare disorder after the diagnosis had been received. Our study suggests that the frustrations experienced by families could in part be addressed by the provision of information, education, and training related to Rett syndrome for clinicians, additional resources to allow clinicians to request genetic testing for confirmation of the clinical diagnosis and for information and support services for families. (C) 2011 Wiley Periodicals, Inc.

语种: 英语
WOS记录号: WOS:000299381800003
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/61674
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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作者单位: 1.Univ Western Australia, Telethon Inst Child Hlth Res, Ctr Child Hlth Res, Perth, WA, Australia
2.Curtin Univ, Sch Physiotherapy, Bentley, WA, Australia
3.Curtin Univ, Curtin Hlth Innovat Res Inst, Bentley, WA, Australia
4.Curtin Univ, Curtin Hlth Innovat Res Inst, Ctr Populat Hlth Res, Bentley, WA, Australia
5.Peking Univ, Dept Paediat, Hosp 1, Beijing 100871, Peoples R China

Recommended Citation:
Lim, Faye,Downs, Jenny,Li, Jianghong,et al. Barriers to Diagnosis of a Rare Neurological Disorder in China-Lived Experiences of Rett Syndrome Families[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A,2012,158A(1):1-9.
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