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Multi-Center Assessment of Sturge-Weber Syndrome: A Retrospective Study of Variations in Care and Use of Natural History Data

      Summary

      Objective

      We summarize the history of individuals with SWS to inform clinical trial design and identify variations in care.

      Methods

      Retrospective chart review of individuals with SWS from centers in NYC. We characterized data quality using a novel scoring system. For 13 clinical concepts, we evaluated if data were present and if high quality.

      Results

      We included 26 individuals with SWS (58% female; median age at initial visit 7y; absolute range 1m - 56y]). Twenty-two had nevus flammeus, 13 glaucoma, 4 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 (18/26, 69%) epilepsy was controlled. A plurality (10/23, 43%) had either normal cognitive function or mild cognitive delays. Aspirin use varied by site (p = 0.02) – at four sites, use was 0% (0 of 3), 0% (0 of 4), 80% (4 of 5), and 64% (9 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.

      Key Words

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