041 - Pilot Investigation of Long-term Outcome after Presymptomatic Treatment in Sturge Weber Syndrome

Publication Number: 41.6276

Kieran D. McKenney, Kennedy Krieger Institute, Baltimore, MD, United States; Matthew Ryan, Kennedy Krieger Institute, Parkville, MD, United States; Evan Bucklin, Kennedy Krieger Institute, Belcamp, MD, United States; Siddharth Gupta, Kennedy Krieger Institute, Baltimore, MD, United States; T. Andrew Zabel, Johns Hopkins University School of Medicine, Baltimore, MD, United States; Stacy Suskauer, Johns Hopkins University School of Medicine and Kennedy Krieger Institute, Baltimore, MD, United States; Anne Comi, Kennedy Krieger Institute, Baltimore, MD, United States

Background: Recent research suggests presymptomatic treatment in Sturge-Weber syndrome (SWS) may delay age of seizure onset and improve short-term neurologic outcome, however, no long-term data exists.

Objective: Thus, the aim of this pilot study is to gain a preliminary understanding of long-term neurologic outcome after presymptomatic treatment in SWS.

Design/Methods: Six subjects—3 presymptomatically treated with aspirin and an anticonvulsant (PRE group; 3 female, ages 7.4-10 years) and 3 not presymptomatically treated (POST group; 2 female, ages 8.2-10.4 years) were consented for the review of clinical records and research via an IRB approved protocol. Clinical data from neurology and occupational therapy or physiatry appointments closest to time of study visit were reviewed. Data collected included seizure history, extent of SWS brain, skin, and eye involvement, SWS Neuroscore (SWS NS), and the SWS motor battery (ABILHAND, Pediatric Evaluation of Disability Index (PEDI-CAT), modified House Functional Classification (HOUSE), and modified Erhardt Developmental Prehension Assessment (EDPA)). SWS Neuroscores were also gathered from clinical visits closest to 2 years of age. Research assessments included neuropsychological tests (ABAS-3 and WISC-V), EEG, and quantitative EEG analysis.

Results: Higher (better) cumulative HOUSE scores were noted in PRE subjects (mean rank = 4.83) compared to POST (mean rank = 2.17) (U = 8.5, p = .05, n = 6); higher HOUSE score categories were also reached (U = 8.5, p = .05, n = 6; PRE mean rank = 4.83, POST mean rank = 2.17). A single PRE subject experienced worsening total SWS NS (1 to 2) while two POST subjects experienced worsened total SWS NS (4 to 6 & 4 to 5) (Figure 1). No PRE subjects had a seizure history; all 3 POST subjects did. PRE subjects overall had higher performance across all ABAS-3 domains (Table 1) and all motor tests (Table 2) as compared to POST subjects. The PRE group had 2 abnormal qEEGs while the POST group had 1.

Conclusion(s): Quantitative analysis was severely limited by the small sample sizes. Qualitatively, this data suggests that presymptomatic subjects had better neurological, neuropsychological, and motor result; this promising result supports the need for further research; additional multi-site research is needed in a larger cohort to determine the long-term effects of presymptomatic treatment in SWS.

Change in Total Neuroscore Over Time
Figure 1.jpegThe presymptomatically treated subjects generally had lower (better) total Neuroscores that were more stable longitudinally.

ABAS-3 qualitative score results
Table 1.jpegThe ABAS-3 qualitatively describes each numeric score as either extremely low, low, below average, average, above average, or high. Qualitative descriptors which had no responses were removed from the table for ease of viewing. Presymptomatically treated subjects had higher levels of performance compared to those post symptomatically treated.

Data from the SWS motor battery
Table 2.jpegHigher scores indicate better performance for all displayed motor scales. Qualitatively, presymptomatically treated subjects appear to perform better than post symptomatically treated subjects.