Diagnostic Error in Dystonia

肌张力障碍的诊断错误

• 批准号: 7933752
• 负责人: Caroline M. Tanner
• 金额: $ 46.68万
• 依托单位: PARKINSON'S INSTITUTE
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-09-30 至 2012-09-29
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7933752
• 关键词: Diagnostic; Error; Dystonia

DESCRIPTION (provided by the PI): Primary dystonia, thought to be the third most common movement disorder, is a chronic neurological disease affecting all age groups and racial groups. Common subtypes of primary dystonia include dystonic blepharospasm, spasmodic torticollis, oromandibular dystonia, spasmodic dysphonia and focal hand dystonia (writer's cramp). Primary dystonia has adverse effects on health, employment and quality of life. There is no cure, but many forms can be effectively treated. Incorrect diagnosis at the time of presentation with dystonia is common, with estimates ranging from 50% to 90%. Correct diagnosis is often delayed for years, causing unnecessary morbidity, suffering, and greater healthcare and societal costs. Moreover, persons with dystonia are frequently misdiagnosed as malingering or as suffering from a psychiatric disorder. This serious issue has not been studied systematically. We propose to take advantage of our ongoing study in the Northern California Kaiser Permanente Medical Care Plan, which is identifying the world's largest cohort of incident cases of primary dystonia (R01 NS046340). Using computerized health utilization review and direct patient interviews we will identify and describe the frequency and characteristics of incorrect diagnosis of dystonia, including the length of time from symptom onset until diagnosis, the number and type of incorrect diagnoses, the types of medical providers seen, and the use of inappropriate treatments. We will also assess the consequences of incorrect diagnosis, including costs and adverse events, and the impact of incorrect and delayed diagnosis on patients' lives. By building on an established cohort of incident dystonia, the proposed design allows us to accomplish study aims at a fraction of the cost of conducting these studies de novo. Identifying the types of incorrect diagnoses that are made, and by whom, will provide a foundation for developing future effective interventions that can ultimately minimize this problem. If successful, this approach could be applied in other medical care settings, as well as for other rare disorders, to improve medical care and efficiency, and reduce suffering.

描述（由PI提供）：原发性肌张力障碍，被认为是第三种最常见的运动障碍，是影响所有年龄段和种族群体的慢性神经系统疾病。原发性肌张力障碍的常见亚型包括肌张力性骨痉挛，痉挛性核桃，眼颌骨肌张力障碍，痉挛性吞咽困难和局灶性手部肌张力障碍（作者的抽筋）。原发性肌张力障碍对健康，就业和生活质量有不利影响。无法治愈，但是可以有效地治疗许多形式。在肌张力障碍症中表现出来时，诊断不正确，估计为50％至90％。正确的诊断通常会延迟多年，从而导致不必要的发病率，痛苦以及更大的医疗保健和社会成本。此外，患有肌张力障碍的人经常被误诊为恶意或患有精神疾病。这个严重的问题尚未系统地研究。我们建议利用我们正在加利福尼亚州北加州Permanente医疗计划正在进行的研究，该计划正在确定世界上最大的主要肌张力障碍事件案例（R01 NS046340）。使用计算机化健康利用率审查和直接患者访谈，我们将识别并描述肌张力障碍诊断不正确的频率和特征，包括从症状发作到诊断的时间长度，不正确的诊断的数量和类型，所见医疗提供者的类型以及不适当的治疗方法的使用。我们还将评估错误诊断的后果，包括成本和不良事件，以及诊断不正确和延迟诊断对患者生活的影响。通过建立既定的事件肌张力障碍队列，拟议的设计使我们能够完成研究目标的一小部分，从而从头进行这些研究的成本。确定所做的不正确诊断的类型，并通过谁将为开发未来有效干预措施的基础，最终可以最大程度地减少此问题。如果成功，则可以将这种方法应用于其他医疗服务以及其他罕见疾病，以提高医疗保健和效率，并减少痛苦。