Authors :
Presenting Author: Christina Briscoe Abath, MD EdM – Children's Hospital of Philadelphia
Sebastian Vega, MD – Hospital Carlos Van Buren; Felipe Castro villablanca, MD – Hospital Roberto del Rio; Juan Moya, MD – Hospital Luis Calvo Mackenna; constanza Garrido, MD – Hospital Gustavo Fricke; José Marín, MD – Hospital Sótero Del Río; Carolina muñoz, MD – Hospital Regional de Concepción; Carla Soto, MD – Hospital de Iquique; Consuelo Quintanilla, MD – Hospital Gustavo Fricke; Avantika Singh, MD – Medical College of Wisconsin; Jennifer Meylor, MD – Medical College of Wisconsin; Cynthia Margarit, MD – Hospital San Juan de Dios; Lucila Andrade, MD – Hospital Carlos Van Buren; Leonardo Leal, MD – Hospital Carlos Van Buren; Alexandra Santana Almansa, MD – Boston Children's Hospital; Zainab Zaman, MD – Boston Children's Hospital; Keryma Acevedo, MD – Hospital Clínico de la Pontificia Universidad Católica; Chellamani Harini, MD – Boston Children's Hospital
Rationale:
Relapse of epileptic spasms following initial response to therapy affects approximately 20 percent of children with infantile epileptic spasms syndrome (IESS). While mean duration to epileptic spasm (ES) relapse is approximately five months, it can occur from days to 18 months later. Evidence on ES relapse risk factors has been inconsistent across studies, and some regions have been under-represented in research populations. Furthermore, whether patients with relapse are at risk for worse long-term outcomes is unknown. Challenges with predicting relapse and prognostication after relapse increase the need for close monitoring and holds psychological implications for families. Therefore, a collaboration group was formed between Boston Children’s Hospital (BCH), Hospital Carlos Van Buren (HCVB), Roberto del Rio, Clínico de la Pontificia Universidad Católica, Medical College of Wisconsin, Sótero Del Río, Gustavo Fricke, Regional de Concepción, Luis Calvo Mackenna, San Juan de Dios, and Iquique. We aimed to identify potential factors associated with IESS relapse and compare long-term outcomes in children with and without IESS relapse.
Methods:
Ethical approvals were obtained at each center to share de-identified data. A RedCap database was co-constructed by CBA and SV. At least three patients were co-coded from each center to ensure consistency. Records with questions were flagged for discussion when uncertainties arose. Inclusion criteria were: (1) IESS diagnosed between 01/15-01/22 (2) Response to therapy, with 28 days of ES freedom and no evidence of hypsarrhythmia on follow-up EEG. (3) At least 18 months of follow-up after diagnosis. Relapse was defined as clinical recurrence of epileptic spasms or return of hypsarrhythmia after response. Exclusion criteria included no clear response to therapy or insufficient follow-up. Data gathered included patient demographics, medical history prior to IESS onset, IESS disease course, epilepsy surgery data, developmental outcomes, EEG and MRI reports, and genetic/metabolic testing results.
Results: A total of 111 patients have been screened, with 34 excluded for refractory ES and 19 for insufficient follow-up. Data entry is ongoing. Of the 58 patients included, 20 (34%) patients had relapse, with average 5.4 months between ES resolution and relapse (SD 4.9, range 0.2-16.7); 12 (60%) responded to subsequent therapy. Children with relapse were more likely to have a known etiology (85% v. 58% p=0.04) (Table 1). At 24 months old, children with relapse were less likely to know their name (p=0.02), ambulate (p=0.01), and have 2-word phrases (p=0.004). At last follow-up, they were more likely to have seizures in the last 12 months (p< 0.001), take anti-seizure medications (p< 0.001), and have developmental delays (p=0.04).
Conclusions:
Concordant with prior studies, approximately one third of IESS patients relapsed by 18 months. Children with known etiology were more likely to have ES relapse. Further, children with ES relapse had significantly worse developmental and epilepsy outcomes. Our current results are limited by sample size, which is expected to increase with the addition of patients from our Chilean collaborators.
Funding: Support from BCH Epilepsy Department.