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学科主题临床医学
Barriers to Diagnosis of a Rare Neurological Disorder in China-Lived Experiences of Rett Syndrome Families
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
2012
DOI10.1002/ajmg.a.34351
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
Cited Times:5[WOS]   [WOS Record]     [Related Records in WOS]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/61674
Collection北京大学第一临床医学院_儿科
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
GB/T 7714
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.
APA Lim, Faye,Downs, Jenny,Li, Jianghong,Bao, Xin-Hua,&Leonard, Helen.(2012).Barriers to Diagnosis of a Rare Neurological Disorder in China-Lived Experiences of Rett Syndrome Families.AMERICAN JOURNAL OF MEDICAL GENETICS PART A,158A(1),1-9.
MLA Lim, Faye,et al."Barriers to Diagnosis of a Rare Neurological Disorder in China-Lived Experiences of Rett Syndrome Families".AMERICAN JOURNAL OF MEDICAL GENETICS PART A 158A.1(2012):1-9.
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