Confirmed versus suspected: The social significance of a genetic or non-genetic diagnosis of mitochondrial disease

被引：3

作者：

Krieg, Elizabeth ^{[1
]}

Calderwood, Laurel ^{[1
]}

Campion, MaryAnn ^{[1
]}

Krepkovich, Katherine E. ^{[1
]}

机构：

[1] Boston Univ, Sch Med, Genet Counseling Program, Boston, MA 02118 USA

来源：

MITOCHONDRION | 2016年 / 28卷

关键词：

Mitochondrial disease; Genetic testing; Patient experience; Diagnosis; Physician education; Adult patient population; CHRONIC-FATIGUE-SYNDROME; IDENTITY; ILLNESS; REPRESENTATIONS; PERSPECTIVE; EXPERIENCES; CRITERIA; PATIENT; ADULTS; CARE;

D O I：

10.1016/j.mito.2016.03.008

中图分类号：

Q2 [细胞生物学];

学科分类号：

071013 [干细胞生物学];

摘要：

This study assessed attitudes and beliefs regarding the importance of a genetic versus non-genetic diagnosis within the mitochondrial disease community. Survey respondents were categorized into two groups those with a genetic diagnosis, and those with a non-genetic diagnosis of mitochondrial disease. We found that while both groups perceive problems with the support available to adult mitochondrial disease patients, the non-genetic group experiences less medical and social support due to lack of a definitive diagnosis. Understanding the efficacy of existing resources for mitochondrial disease sub-groups will allow for the development or improvement of resources designed to meet patient needs. (C) 2016 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

引用

页码：60 / 66

页数：7

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