Richards Jackson, Korgenski E Kent, Srivastava Rajendu, Bonkowsky Joshua L
From the Division of Inpatient Medicine, Department of Pediatrics (R.S.), and Division of Pediatric Neurology, Department of Pediatrics (J.L.B.), University of Utah School of Medicine (J.R.), Salt Lake City; Institute for Health Care Delivery Research (R.S.), Intermountain Healthcare (E.K.K.), Salt Lake City, UT.
Neurology. 2015 Sep 29;85(13):1167-70. doi: 10.1212/WNL.0000000000001974. Epub 2015 Aug 28.
Our objective was to determine the extent of testing and costs solely related to diagnosis (the diagnostic odyssey) in a cohort of children with inherited leukodystrophies.
We determined all inpatient and outpatient laboratory testing, including brain MRIs obtained for the purpose of diagnosis, over an 8-year time period in a retrospective population cohort of children with inherited leukodystrophies. Costs were determined from an activity-based cost accounting system and were standardized to 2013 constant US dollars.
Each patient had on average 20 tests (range 2-42 tests), with costs of $4,200 (range $357-$15,611). Diagnostic yield plateaued after 25 tests, and costs increased significantly after 32 tests. Fifty-three percent of patients were diagnosed in 20 or fewer tests, compared with 17% if more than 20 tests were performed.
Our findings provide details on the amount and costs of testing in children who often undergo a diagnostic odyssey. Our results suggest that diagnostic testing is a relatively modest contributor to the overall health care costs in patients with leukodystrophy, and offer insights into the diagnostic odyssey of children with neurologic impairment.
我们的目的是确定一组遗传性脑白质营养不良患儿仅与诊断相关的检查范围和费用（诊断历程）。
我们在一个遗传性脑白质营养不良患儿的回顾性人群队列中，确定了8年期间所有的住院和门诊实验室检查，包括为诊断目的而进行的脑部磁共振成像。费用根据基于活动的成本核算系统确定，并标准化为2013年不变美元。
每位患者平均进行20项检查（范围为2 - 42项检查），费用为4200美元（范围为357 - 15611美元）。25项检查后诊断率趋于平稳，32项检查后费用显著增加。53%的患者在20项或更少的检查中被确诊，而进行超过20项检查时这一比例为17%。
我们的研究结果提供了关于经常经历诊断历程的儿童检查数量和费用的详细信息。我们的结果表明，诊断检查在脑白质营养不良患者的总体医疗费用中占比相对较小，并为神经功能障碍儿童的诊断历程提供了见解。
