Background

We summarize the history of individuals with Sturge-Weber syndrome (SWS) to inform clinical trial design and identify variations in care.

Methods

We performed retrospective chart review of individuals with SWS from centers in New York City. We characterized data quality using a novel scoring system. For 13 clinical concepts, we evaluated if data were present and if they were of high quality.

Results

We included 26 individuals with SWS (58% female; median age at initial visit 7 years; absolute range 1 month to 56 years]). Twenty-two had nevus flammeus, 13 glaucoma, four homonymous hemianopia, and 15 hemiparesis. Nineteen of 21 had at least one confirmed seizure with a known first seizure date, all before 24 months. Most (18 of 26, 69%) epilepsy was controlled. A plurality (10 of 23, 43%) had either normal cognitive function or mild cognitive delays. Aspirin use varied by site (P = 0.02)—at four sites, use was 0% (zero of three), 0% (zero of four), 80% (four of five), and 64% (nine of 14). Data were present for more than 75% of cases for 11 of 13 clinical concepts (missing: age of diagnosis, age of glaucoma onset). There were gaps in level of detail for motor impairments, glaucoma severity, seizure history, cognition, and medication history.

Conclusions

Clinical charts have important gaps in the level of detail around core SWS clinical features, limiting value for some natural history studies. Any clinical trial in SWS designed to prevent epilepsy should begin in the first year of life. Variations in use of aspirin suggest de facto clinical equipoise and warrant a comparative effectiveness study.

中文翻译：

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Sturge-Weber 综合征的多中心评估：对自然历史数据的护理和使用变化的回顾性研究

背景

我们总结了 Sturge-Weber 综合征 (SWS) 患者的病史，为临床试验设计提供信息并确定护理方面的差异。

方法

我们对来自纽约市中心的 SWS 患者进行了回顾性图表审查。我们使用一种新颖的评分系统来表征数据质量。对于 13 个临床概念，我们评估了数据是否存在以及它们是否具有高质量。

结果

我们纳入了 26 名 SWS 患者（58% 为女性；初次就诊时的中位年龄为 7 岁；绝对范围为 1 个月至 56 岁]）。22 人患有火红色痣，13 人患有青光眼，4 人患有同向偏盲，15 人患有偏瘫。21 人中有 19 人至少有一次确诊癫痫发作，且首次发作日期已知，均在 24 个月前。大多数（26 人中的 18 人，69%）癫痫得到控制。许多人（23 人中有 10 人，占 43%）具有正常的认知功能或轻度认知延迟。阿司匹林的使用因地点而异（P = 0.02)—在四个地点，使用率为 0%（三个中的零个）、0%（四个中的零个）、80%（五个中的四个）和 64%（14 个中的九个）。对于 13 个临床概念中的 11 个（缺失：诊断年龄、青光眼发病年龄），超过 75% 的病例存在数据。在运动障碍、青光眼严重程度、癫痫发作史、认知和药物史方面的详细程度存在差距。

结论

临床图表在围绕核心 SWS 临床特征的详细程度方面存在重大差距，限制了某些自然历史研究的价值。任何旨在预防癫痫的 SWS 临床试验都应在出生后的第一年开始。阿司匹林使用的变化表明事实上的临床平衡并需要进行比较有效性研究。