Authors :
Presenting Author: Isabelle Iannotti, BA – Boston Children's Hospital
Anne Comi, MD – Neurology – Kennedy Krieger Institute; Yangming Ou, PhD – Radiology – Boston Children's Hospital; Anna Pinto, MD – Neurology – Boston Children's Hospital; Chelsea Valery, Research assistant – Kennedy Krieger Institute
Rationale:
Sturge-Weber syndrome (SWS) is a rare vascular disorder in which ages 0-2 are a critical period for a child’s development and early intervention. Bilateral brain involvement in SWS can be associated with earlier seizure onset during this period. Clinical data from Boston Children’s Hospital (BCH) and Kennedy Krieger Institute (KKI) was aggregated to determine the success of presymptomatic treatment in delaying seizures and improving neurologic outcomes.
Methods: BCH and KKI reviewed records from SWS patients with leptomeningeal angioma (year of birth: 2008-2021) in an IRB-approved retrospective study. Information recorded included demographics, age of seizure onset, brain involvement extent (unilateral versus bilateral), port wine birthmark (PWB) extent, family history of seizure, history of presymptomatic treatment (PS), SWS neuroscore, and seizure medication. Two-group comparison for seizure outcome and neuroscore (treated vs. untreated) was conducted using Pearson chi-squared test and Mann-Whitney U test.
Results: Ninety SWS patients were included (48 female) and 30 of these patients received presymptomatic treatment. The PS treatment group was significantly more likely to have seizure freedom at age two compared to patients not treated presymptomatically (p=0.0019). In untreated patients, median neuroscore (range: 0-15) was worse (4) compared to that of the PS group (2.5), although this was not significant (p=0.199).
Conclusions: Treating SWS patients before seizure onset proves to be a promising approach of delaying seizure onset, which may lead to improved cognition. The long-term neurologic outcome of these patients requires further study as well as investigation into the most effective presymptomatic treatment. Additionally, these findings could lead to clinical trials that target seizure prevention during the critical period.
Funding: Award Number: 1R21TR004265-01