Predictive modeling for clinical features associated with Neurofibromatosis Type 1

Objective: Perform a longitudinal analysis of clinical features associated with Neurofibromatosis Type 1 (NF1) based on demographic and clinical characteristics, and to apply a machine learning strategy to determine feasibility of developing exploratory predictive models of optic pathway glioma (OPG) and attention-deficit/hyperactivity disorder (ADHD) in a pediatric NF1 cohort. Methods: Using NF1 as a model system, we perform retrospective data analyses utilizing a manually-curated NF1 clinical registry and electronic health record (EHR) information, and develop machine-learning models. Data for 798 individuals were available, with 578 comprising the pediatric cohort used for analysis. Results: Males and females were evenly represented in the cohort. White children were more likely to develop OPG (OR: 2.11, 95%CI: 1.11-4.00, p=0.02) relative to their non-white peers. Median age at diagnosis of OPG was 6.5 years (1.7-17.0), irrespective of sex. Males were more likely than females t...研究目标：基于人口统计学与临床特征，开展与1型神经纤维瘤病（Neurofibromatosis Type 1, NF1）相关的临床特征纵向分析，并应用机器学习策略，评估在儿童NF1队列中构建视神经通路胶质瘤（optic pathway glioma, OPG）与注意缺陷多动障碍（attention-deficit/hyperactivity disorder, ADHD）探索性预测模型的可行性。 研究方法：以NF1作为模型系统，采用人工编纂的NF1临床登记库与电子健康档案（electronic health record, EHR）信息开展回顾性数据分析，并构建机器学习模型。本研究共纳入798名个体的可用数据，其中578名构成用于本次分析的儿童队列。 研究结果：队列中男性与女性占比均衡。相较于非白人儿童，白人儿童发生OPG的风险更高（优势比[Odds Ratio, OR]：2.11，95%置信区间[95% Confidence Interval, 95%CI]：1.11~4.00，p=0.02）。无论性别如何，OPG确诊时的中位年龄为6.5岁（范围1.7~17.0岁）。男性相较于女性更易……