Madubata Chinwe C, Olsen Margaret A, Stwalley Dustin L, Gutmann David H, Johnson Kimberly J
School of Medicine, Washington University, St. Louis, Missouri, USA.
1] Department of Medicine, School of Medicine, Washington University, St. Louis, Missouri, USA [2] Department of Surgery, School of Medicine, Washington University, St. Louis, Missouri, USA.
Genet Med. 2015 Jan;17(1):36-42. doi: 10.1038/gim.2014.70. Epub 2014 Jun 5.
Neurofibromatosis type 1 has been linked to several neurological conditions, including epilepsy, Parkinson disease, headache, multiple sclerosis, and sleep disturbances, predominantly through case reports and patient series that lack comparison groups. Our objective was to assess whether specific neurological conditions occur more frequently in individuals with neurofibromatosis type 1 versus those without neurofibromatosis type 1.
We used the 2006-2010 MarketScan Commercial Claims and Encounters database to examine associations between neurological conditions and neurofibromatosis type 1. The neurofibromatosis type 1 group was identified through ≥2 International Classification of Diseases, Ninth Revision, Clinical Modification neurofibromatosis codes (237.70, 237.71) occurring ≥30 days apart or one inpatient neurofibromatosis code. A nonneurofibromatosis type 1 comparison group was frequency matched to the neurofibromatosis type 1 group on age and enrollment length at a 10:1 ratio. Unconditional logistic regression was employed to calculate adjusted odds ratios and 95% confidence intervals for associations between neurofibromatosis and neurological conditions.
Compared with the nonneurofibromatosis type 1 group (n = 85,790), the neurofibromatosis type 1 group (n = 8,579) had significantly higher odds of health insurance claims for epilepsy (odds ratio: 7.3; 95% confidence interval: 6.4-8.3), Parkinson disease (odds ratio: 3.1; 95% confidence interval: 1.3-7.5), headache (odds ratio: 2.9; 95% confidence interval: 2.6-3.1), multiple sclerosis (odds ratio: 1.9; 95% confidence interval: 1.2-2.9), and sleep disturbances/disorder (odds ratio: 1.4; 95% confidence interval: 1.2-3.6).
This large study provides strong evidence for positive associations between several neurological conditions and neurofibromatosis type 1.
1型神经纤维瘤病已与多种神经系统疾病相关联，包括癫痫、帕金森病、头痛、多发性硬化症和睡眠障碍，主要是通过缺乏对照组的病例报告和患者系列研究得出的。我们的目的是评估特定神经系统疾病在1型神经纤维瘤病患者中是否比非1型神经纤维瘤病患者更频繁地出现。
我们使用2006 - 2010年市场扫描商业索赔和病历数据库来研究神经系统疾病与1型神经纤维瘤病之间的关联。通过相隔≥30天出现的≥2个国际疾病分类第九版临床修订本神经纤维瘤病编码（237.70、237.71）或一个住院神经纤维瘤病编码来确定1型神经纤维瘤病组。一个非1型神经纤维瘤病对照组在年龄和入组时长上以10:1的比例与1型神经纤维瘤病组进行频率匹配。采用无条件逻辑回归来计算1型神经纤维瘤病与神经系统疾病之间关联的调整比值比和95%置信区间。
与非1型神经纤维瘤病组（n = 85,790）相比，1型神经纤维瘤病组（n = 8,579）癫痫医疗保险索赔的比值比显著更高（比值比：7.3；95%置信区间：6.4 - 8.3）、帕金森病（比值比：3.1；95%置信区间：1.3 - 7.5）、头痛（比值比：2.9；95%置信区间：2.6 - 3.1）、多发性硬化症（比值比：1.9；95%置信区间：1.2 - 2.9）以及睡眠障碍/紊乱（比值比：1.4；95%置信区间：1.2 - 3.6）。
这项大型研究为几种神经系统疾病与1型神经纤维瘤病之间的正相关提供了有力证据。
