Cristal Ashley D, Chen Karen P, Hernandez Nora Cristina, Factor-Litvak Pam, Clark Lorraine N, Ottman Ruth, Louis Elan D
Division of Movement Disorders, Department of Neurology, Yale School of Medicine, Yale University, New Haven, CT, United States.
Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, United States.
Front Neurol. 2018 Jan 26;9:27. doi: 10.3389/fneur.2018.00027. eCollection 2018.
Essential tremor (ET) is among the most common neurological diseases and it often runs in families. How knowledgeable ET patients and their families are about their disease has been the subject of surprisingly little scholarship.
To fill this gap in knowledge, we administered a comprehensive 32-item survey (i.e., questions about etiology, pathophysiology, symptoms and signs, natural history, and treatments) to 427 participants, including 76 ET probands, 74 affected relatives (AFRs), 238 unaffected relatives, and 39 spouses of unaffected relatives, all of whom were participating in two ET family studies. We hypothesized that there would be gaps in knowledge about ET and furthermore, that probands and AFRs would be the most knowledgeable, followed by unaffected relatives and then spouses of unaffected relatives, who would be the least knowledgeable.
Overall, ET patients lacked knowledge about their disease. Nearly one-third of probands answered "yes" or "do not know" to the question, "is ET the same or different from the type of tremor that many normal people can get when they become old and frail?" A similar proportion did not know whether children could get ET or they responded "no." Nearly one-fourth of affecteds (i.e., probands and AFRs) did not know whether or to what degree (e.g., very well, moderately well, not well) the symptoms of ET could be medically controlled, and 38.0% either reported that there was no brain surgery for ET or reported that they did not know. Nearly 17% of affecteds did not endorse genes as a cause for ET, which was surprising given the fact that this was a family study of ET. Probands and AFRs were the most knowledgeable, followed by unaffected relatives. Spouses of unaffected relatives were the least knowledgeable.
We targeted a large group of ET patients and their families, as this group is perhaps most likely to be informed about the disease. ET patients and their AFRs were more knowledgeable about the features of ET than their family members without ET. Overall, however, knowledge of ET was very limited and this lack of knowledge encompassed all aspects of the disease including its underlying causes, the nature of the symptoms and signs, its natural history and its treatment. Further ET awareness education and programs targeting both families of ET patients and the public would help alleviate this gap in knowledge.
特发性震颤（ET）是最常见的神经系统疾病之一，且常常具有家族遗传性。令人惊讶的是，关于ET患者及其家属对该疾病的了解程度，相关学术研究极少。
为填补这一知识空白，我们对427名参与者进行了一项包含32个项目的全面调查（即关于病因、病理生理学、症状体征、自然病史和治疗方法的问题），这些参与者包括76名ET先证者、74名患病亲属（AFR）、238名未患病亲属以及39名未患病亲属的配偶，他们均参与了两项ET家族研究。我们假设，关于ET的知识存在差距，此外，先证者和AFR的知识最为丰富，其次是未患病亲属，而未患病亲属的配偶知识最匮乏。
总体而言，ET患者对自身疾病缺乏了解。近三分之一的先证者对“ET与许多正常人年老体弱时出现的震颤类型相同还是不同？”这个问题回答“是”或“不知道”。类似比例的人不知道儿童是否会患ET，或者回答“不会”。近四分之一的患病者（即先证者和AFR）不知道ET症状在医学上能否得到控制以及控制程度如何（例如，很好、一般、不好），38.0%的人要么表示ET没有脑部手术，要么表示不知道。近17%的患病者不认为基因是ET的病因，鉴于这是一项ET家族研究，这一结果令人惊讶。先证者和AFR知识最丰富，其次是未患病亲属。未患病亲属的配偶知识最匮乏。
我们针对的是一大群ET患者及其家属，因为这个群体可能最有可能了解该疾病。ET患者及其AFR比没有患ET的家庭成员对ET的特征了解更多。然而，总体而言，对ET的了解非常有限，这种知识匮乏涵盖了该疾病的各个方面，包括其潜在病因、症状体征的性质、自然病史和治疗方法。针对ET患者家属和公众开展进一步的ET认知教育及相关项目，将有助于缩小这一知识差距。
