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，是一种影响所有年龄组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障碍性眼睑痉挛、痉挛性斜颈、口颌肌张力障碍、痉挛性发声障碍和局灶性手肌张力障碍（写作痉挛）。原发性肌张力障碍对健康、就业和生活质量产生不利影响。目前尚无治愈方法，但许多形式都可以得到有效治疗。肌张力障碍出现时诊断不正确的情况很常见，估计范围为 50% 至 90%。正确的诊断往往会延迟数年，导致不必要的发病、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装病或患有精神疾病。这个严重的问题还没有得到系统的研究。我们建议利用我们在北加州 Kaiser Permanente 医疗护理计划中正在进行的研究，该计划正在确定世界上最大的原发性肌张力障碍病例组 (R01 NS046340)。通过计算机化的健康利用审查和直接患者访谈，我们将识别和描述肌张力障碍错误诊断的频率和特征，包括从症状出现到诊断的时间长度、错误诊断的数量和类型、就诊的医疗提供者的类型、以及使用不适当的治疗方法。我们还将评估错误诊断的后果，包括费用和不良事件，以及错误和延迟诊断对患者生活的影响。通过建立一组已建立的肌张力障碍事件，所提出的设计使我们能够以从头进行这些研究的一小部分成本来完成研究目标。确定错误诊断的类型以及由谁做出的错误诊断，将为开发未来有效的干预措施奠定基础，从而最终最大限度地减少这一问题。如果成功，这种方法可以应用于其他医疗机构以及其他罕见疾病，以改善医疗护理和效率，并减少痛苦。