Survey of essential tremor patients on their knowledge about the genetics of the disease
Survey of essential tremor patients on their knowledge about the genetics of the disease
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DOI：
10.1002/mds.10085
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发表时间：
2002-03-01
影响因子：
8.6
通讯作者：
Louis, ED
中科院分区：
文献类型：
--
作者：
Watner, D;Jurewicz, EC;Louis, ED
对一组原发性震颤（ET）患者进行了ET遗传学知识的调查，以便为临床医生提供重要信息，为患者提供有关这种疾病的护理和教育。ET患者由哥伦比亚长老会医学中心的神经学家确定。进行5至10分钟的调查，以评估ET遗传学知识。50名ET患者平均生活了24.2年。大约一半（n = 27）报告了ET家族史。当被问到“是什么导致ET”时，12人（24%）回答说这是“遗传性的”。即使在27名报告有家族史的人中，也只有25.9%的人回答说这是“遗传性的”。少数患者（12 [24%]）认为他们的家庭其他成员有一天会患上这种疾病。三名患者知道已经建立了遗传连锁。我们的研究结果表明，大多数ET患者对疾病的遗传基础并不了解。由于遗传研究的最新进展，医生可能需要将更多的遗传信息和教育纳入他们的实践，包括关于其他家庭成员和基因检测的风险信息。希望这些调查结果可用于改善患者教育，并为临床医生提供对患者观点的进一步了解。(C)2002运动障碍协会。
A group of essential tremor (ET) patients were surveyed on their knowledge of the genetics of ET in order to provide important information to clinicians who care for and educate patients about this disease. ET patients were ascertained from neurologists at Columbia-Presbyterian Medical Center. A 5- to 10-minute survey was administered to assess knowledge of the genetics of ET. Fifty ET patients had been living with their disease for a mean of 24.2 years. Approximately half (n = 27) reported a family history of ET. When asked, "What causes ET," 12 (24%) replied that it was "hereditary." Even among the 27 who reported a family history, only 25.9% replied that it was "hereditary." A minority of patients (12 [24%]) thought that it was "very likely" that other members of their family would develop the disease some day. Three patients were aware that genetic linkage had been established. Our findings suggest that the majority of patients with ET are not well informed about the genetic basis for the disease. Because of recent advances in genetic research, physicians may need to incorporate more genetic information and education into their practice, including information on risk to other family members and genetic testing. It is hoped that these survey results could be used to improve patient education and to provide clinicians with further insight into patients' perspectives. (C) 2002 Movement Disorder Society.