Mendizabal Adys, Singh Alvin P, Perlman Susan, Brown Arleen, Bordelon Yvette
Department of Neurology (AM, APS, SP, YB), David Geffen School of Medicine; Institute of Society and Genetics (AM); Interdepartmental Undergraduate Neuroscience Program (AM); and Division of General Internal Medicine and Health Services Research (AB), Department of Medicine, David Geffen School of Medicine, UCLA.
Neurol Clin Pract. 2023 Dec;13(6):e200200. doi: 10.1212/CPJ.0000000000200200. Epub 2023 Oct 2.
Social and structural determinants of health (SDOH) have been associated with disability in neurologic diseases. However, the association between these factors and disability in Huntington disease (HD) has not been studied. This study aimed to evaluate the association of racial and sociodemographic factors with disease severity in patients with HD in North America.
We conducted a cross-sectional study of genetically confirmed participants with HD (36+ CAG repeats) in the North American region using the ENROLL-HD 2020 periodic dataset. In this analysis, our exposure variable was the participant's race/ethnicity. The main outcome measure was disease severity, as measured by the Total Functional Capacity Score (TFC), which measures the level of disability of patients with HD. We used multivariate regression models to adjust for sociodemographic factors that may mediate or moderate a causal effect between race/ethnicity and disease severity.
Among 4,717 gene-positive participants in the North American region, 89.5% identified as White, 3.4% as Hispanic or Latino, and 2.3% as African American/Black. The average TFC score was 10.22 (SD 3.22); 48% of participants completed either secondary education (including college) or a professional degree, and 55% lived in a city and not in a town, village, or rural location. In multivariate regression models, we found that Black participants and those with less than a high school degree entered the ENROLL-HD study with lower TFC scores than White participants. We also found that compared with those with at least a high school degree, those who completed some form of higher education or professional degree had higher TFC scores ( < 0.001). This multivariate analysis did not find an association between geographic location and TFC score.
Our study found that Black participants in North America presented to ENROLL-HD with more advanced disease than White patients. We also found that higher education was associated with less advanced disease when entering the ENROLL-HD study. The role of race/ethnicity and education in HD symptom severity warrants further investigation. These findings underscore the importance of further studying the role of social and structural determinants of health in patients with HD, particularly those from historically marginalized communities.
健康的社会和结构决定因素（SDOH）已被证明与神经疾病中的残疾相关。然而，这些因素与亨廷顿舞蹈症（HD）中的残疾之间的关联尚未得到研究。本研究旨在评估北美HD患者的种族和社会人口统计学因素与疾病严重程度之间的关联。
我们使用ENROLL-HD 2020定期数据集对北美地区基因确诊的HD参与者（36个及以上CAG重复序列）进行了一项横断面研究。在本分析中，我们的暴露变量是参与者的种族/民族。主要结局指标是疾病严重程度，通过总功能能力评分（TFC）来衡量，该评分用于测量HD患者的残疾水平。我们使用多变量回归模型来调整可能介导或调节种族/民族与疾病严重程度之间因果关系的社会人口统计学因素。
在北美地区的4717名基因阳性参与者中，89.5%的人认定为白人，3.4%为西班牙裔或拉丁裔，2.3%为非裔美国人/黑人。TFC评分的平均值为10.22（标准差3.22）；48%的参与者完成了中等教育（包括大学）或专业学位，55%的人居住在城市而非城镇、村庄或农村地区。在多变量回归模型中，我们发现黑人参与者和高中以下学历的参与者在进入ENROLL-HD研究时的TFC评分低于白人参与者。我们还发现，与至少拥有高中学历的人相比，完成某种形式高等教育或专业学位的人TFC评分更高（<0.001）。该多变量分析未发现地理位置与TFC评分之间存在关联。
我们的研究发现，北美地区的黑人参与者在进入ENROLL-HD研究时的疾病比白人患者更为严重。我们还发现，在进入ENROLL-HD研究时，高等教育与疾病不太严重相关。种族/民族和教育在HD症状严重程度中的作用值得进一步研究。这些发现强调了进一步研究健康的社会和结构决定因素在HD患者，特别是来自历史上被边缘化社区的患者中的作用的重要性。
