Ashley Hackett1, Katie Liu2, Helena Yan3, Camille Corre4, Kerry Gao3, Daniel Kelly5, Gabrielle Ghabash6, Jordan Goodman7, William Benko8, Robert Thompson-Stone4, Ali Fatemi7, Gerald Raymond9, Stephanie Keller1, Florian Eichler10, Maria Escolar11, Joshua Bonkowsky6, Eric Mallack3
1Emory University/Children’s Healthcare of Atlanta, 2Emory University, 3Weill Cornell, 4University of Rochester, 5Harvard University, 6University of Utah, 7Kennedy Krieger Institute, 8Department of Neurology, University of California Davis, 9Johns Hopkins, 10Massachusetts General Hospital, 11Children’s Hospital of Pittsburgh
Objective:
Identify seizure risk factors and quantify the efficacy of anti-seizure medications in patients with leukodystrophy
Background:
Seizures are an understudied feature of leukodystrophies. Poorly understood aspects include disease-specific prevalence, clinical characteristics, and EEG patterns conferring the greatest risk of seizures. The natural history and optimum treatment for seizures in leukodystrophies are not well known.
Design/Methods:
This is a cross-sectional retrospective analysis of 706 pediatric patients across 8 health centers (Appendix 1) from 1/1/2013 to 3/31/2020. This study made use of a limited dataset from an established database, so no consent process was required. Patient characteristics were reported with median values and interquartile ranges for continuous variables and frequency and percentage for categorical variables. Wilcoxon rank sum test, Chi-squared test and Fisher’s exact test were used to calculate p values. Logistic regression was performed to assess seizure risk factors.
Results:
Seizures occur in 29% of patients. Every one-year increase in age, the patient is 1.13 times more likely to have seizure (p<0.001). Patients with focal slowing are 3.58 times more likely to have seizure (p<0.001), and those with generalized epileptiform discharges are 13.46 times more likely to have seizure (p=0.019). Diffuse slowing and transplant status were not significantly associated with seizure (p=0.159 and p=0.377, respectively). 37% of patients with seizures require more than one antiseizure medication to control their seizures. 80% of patients taking lacosamide and 72% of patients taking levetiracetam report these medications as beneficial, while only 33% of patients taking oxcarbazepine report benefit.
Conclusions:
Age, focal slowing, and epileptiform discharges are significant predictors for seizure in this population. Abnormal MRI brain and generalized slowing on EEG are widespread in this cohort and do not confer increased seizure risk. Patients with generalized discharges have higher risk of seizures compared with focal discharges. Levetiracetam and lacosamide were deemed effective antiseizure medications in this population.