Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee.
Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, Tennessee.
JAMA Netw Open. 2020 Dec 1;3(12):e2027920. doi: 10.1001/jamanetworkopen.2020.27920.
Functional seizures (formerly psychogenic nonepileptic seizures), paroxysmal episodes that are often similar to epileptic seizures in their clinical presentation and display no aberrant brain electrical patterns, are understudied. Patients experience a long diagnostic delay, few treatment modalities, a high rate of comorbidities, and significant stigma due to the lack of knowledge about functional seizures.
To characterize the clinical epidemiology of a population of patients with functional seizures observed at Vanderbilt University Medical Center (VUMC).
DESIGN, SETTING, AND PARTICIPANTS: This case-control study included patients with functional seizures identified in the VUMC electronic health record (VUMC-EHR) system from October 1989 to October 2018. Patients with epilepsy were excluded from the study and all remaining patients in the VUMC medical center system were used as controls. In total, the study included 1431 patients diagnosed with functional seizures, 2251 with epilepsy and functional seizures, 4715 with epilepsy without functional seizures, and 502 200 control patients who received treatment at VUMC for a minimum of a 3 years. Data were analyzed from November 2018 to March 2020.
Diagnosis of functional seizures, as identified from the VUMC-EHR system by an automated phenotyping algorithm that incorporated International Classification of Diseases, Ninth Revision (ICD-9) codes, International Statistical Classification of Diseases and Related Health Problems, Tenth Revision (ICD-10) codes, Current Procedural Terminology codes, and natural language processing.
Associations of functional seizures with comorbidities and risk factors, measured in odds ratios (ORs).
Of 2 346 808 total patients in the VUMC-EHR aged 18 years or older, 3341 patients with functional seizures were identified (period prevalence, 0.14%), 1062 (74.2%) of whom were women and for which the median (interquartile range) age was 49.3 (39.4-59.9) years. This assessment replicated previously reported associations with psychiatric disorders including posttraumatic stress disorder (PTSD) (OR, 1.22; 95% CI, 1.21-1.24; P < 3.02 × 10-5), anxiety (OR, 1.14; 95% CI, 1.13-1.15; P < 3.02 × 10-5), and depression (OR, 1.14; 95% CI, 1.13-1.15; P < 3.02 × 10-5), and identified novel associations with cerebrovascular disease (OR, 1.08; 95% CI, 1.06-1.09; P < 3.02 × 10-5). An association was found between functional seizures and the known risk factor sexual assault trauma (OR, 10.26; 95% CI, 10.09-10.44; P < 3.02 × 10-5), and sexual assault trauma was found to mediate nearly a quarter of the association between female sex and functional seizures in the VUMC-EHR.
This case-control study found evidence to support previously reported associations, discovered new associations between functional seizures and PTSD, anxiety, and depression. An association between cerebrovascular disease and functional seizures was also found. Results suggested that sexual trauma may be a mediating factor in the association between female sex and functional seizures.
功能性发作(以前称为心因性非癫痫性发作),其临床表现常类似于癫痫发作,且无异常脑电模式,目前研究较少。由于对功能性发作缺乏了解,患者的诊断延迟时间长,治疗方法少,合并症发生率高,且存在严重的耻辱感。
描述范德比尔特大学医学中心(VUMC)观察到的功能性发作患者的临床流行病学特征。
设计、地点和参与者:这项病例对照研究纳入了 1989 年 10 月至 2018 年 10 月 VUMC 电子健康记录(VUMC-EHR)系统中诊断为功能性发作的患者。排除了癫痫患者,VUMC 医疗中心系统中所有其余患者均作为对照。共有 1431 例功能性发作患者、2251 例癫痫伴功能性发作患者、4715 例癫痫无功能性发作患者和 502200 例在 VUMC 接受至少 3 年治疗的对照患者纳入研究。数据分析于 2018 年 11 月至 2020 年 3 月进行。
通过纳入国际疾病分类第 9 版(ICD-9)代码、国际疾病分类第 10 版(ICD-10)代码、当前程序术语代码和自然语言处理的自动表型算法,从 VUMC-EHR 系统中识别功能性发作的诊断。
使用比值比(OR)衡量功能性发作与合并症和危险因素的关联。
在 VUMC-EHR 中,年龄在 18 岁及以上的 2346808 名患者中,共发现 3341 例功能性发作患者(期间患病率为 0.14%),其中 1062 例(74.2%)为女性,中位(四分位距)年龄为 49.3(39.4-59.9)岁。该评估复制了先前报告的与精神障碍的关联,包括创伤后应激障碍(PTSD)(OR,1.22;95%CI,1.21-1.24;P<3.02×10-5)、焦虑(OR,1.14;95%CI,1.13-1.15;P<3.02×10-5)和抑郁(OR,1.14;95%CI,1.13-1.15;P<3.02×10-5),并确定了与脑血管疾病的新关联(OR,1.08;95%CI,1.06-1.09;P<3.02×10-5)。功能性发作与已知危险因素性侵犯创伤之间存在关联(OR,10.26;95%CI,10.09-10.44;P<3.02×10-5),并且在 VUMC-EHR 中发现性侵犯创伤几乎可以解释女性性别与功能性发作之间关联的四分之一。
这项病例对照研究提供了支持先前报告的关联的证据,发现了 PTSD、焦虑和抑郁与功能性发作之间的新关联。还发现了脑血管疾病与功能性发作之间的关联。结果表明,性创伤可能是女性性别与功能性发作之间关联的中介因素。