Patient identification of the symptomatic impact of charcot-marie-tooth disease type 1A.
Patient identification of the symptomatic impact of charcot-marie-tooth disease type 1A.
复制标题
患者鉴定1A型charcot-marie-tooth病的症状影响。
DOI：
10.1097/cnd.0b013e31829e22e3
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发表时间：
2013-09
影响因子：
--
通讯作者：
Herrmann DN
中科院分区：
文献类型：
--
作者：
Johnson NE;Heatwole CR;Ferguson M;Sowden JE;Jeanat S;Herrmann DN
Charcot Marie Tooth 1A型是最常见的遗传性周围神经病，包括对患者生活质量的影响，其负担尚不清楚。这项研究的目的是定性地描述与Charcot Marie Tooth 1A型有关的症状范围以及对生活质量的影响。我们对16名成年Charcot Marie Tooth 1A型患者进行了定性访谈。每一次访谈都使用定性框架技术进行分析，以按主题识别和索引症状。16名患者提供了656条引文。确定了145个重要症状，代表20个症状主题。与行动和行走困难、特定活动障碍和情绪困扰相关的症状最常被提及。多种症状导致Charcot Marie Tooth 1A型疾病负担，其中一些以前被低估。改善对未被认识到的症状的认识将优化患者护理和生活质量。
The burden of Charcot Marie Tooth type 1A, the most common inherited peripheral neuropathy, including impact on patient quality of life is not well understood. This study aims to qualitatively describe the range of symptoms associated with Charcot Marie Tooth type 1A and impact on quality of life. We performed qualitative interviews with 16 adult Charcot Marie Tooth type 1A patients. Each interview was analyzed using a qualitative framework technique to identify and index symptoms by theme. Sixteen patients provided 656 quotes. One hundred and forty-five symptoms of importance were identified representing 20 symptomatic themes. Symptoms associated with difficulty with mobility and ambulation, specific activity impairment, and emotional distress were the most frequently mentioned. Multiple symptoms contribute to Charcot Marie Tooth type 1A disease burden, some previously under-recognized. Improved recognition of under-recognized symptoms will optimize patient care and quality of life.