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Barriers to diagnosis of a rare neurological disorder in China—Lived experiences of Rett syndrome families

Authors

  • Faye Lim,

    1. Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, Western Australia, Australia
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  • Jenny Downs,

    1. Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, Western Australia, Australia
    2. School of Physiotherapy and Curtin Health Innovation Research Institute, Curtin University, Bentley, Western Australia, Australia
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  • Jianghong Li,

    1. Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, Western Australia, Australia
    2. Curtin Health Innovation Research Institute, Centre for Population Health Research, Curtin University, Bentley, Western Australia, Australia
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  • Xin-Hua Bao,

    1. Department of Paediatrics, Peking University First Hospital, Beijing, China
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  • Helen Leonard

    Corresponding author
    1. Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, West Perth, Western Australia, Australia
    • Telethon Institute for Child Health Research, Centre for Child Health Research, University of Western Australia, Perth, WA 6872, Australia.
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  • How to cite this article: Lim F, Downs J, Li J, Bao X-H, Leonard H. 2012. Barriers to diagnosis of a rare neurological disorder in China—Lived experiences of Rett syndrome families. Am J Med Genet Part A 158A:1–9.

Abstract

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. © 2011 Wiley Periodicals, Inc.

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