Epilepsy Surgery Amongst Pediatric Patients with Genetic Etiology
Abstract number :
3.441
Submission category :
9. Surgery / 9B. Pediatrics
Year :
2022
Submission ID :
2232969
Source :
www.aesnet.org
Presentation date :
12/5/2022 12:00:00 PM
Published date :
Nov 22, 2022, 05:29 AM
Authors :
Jason Coryell, MD – OHSU; Allyson Alexander, MD – Children's Hospital Colorado; Dallas Armstrong, MD – University Texas Southwestern; Jeffrey Bolton, MD – Boston Children's Hospital; Michael Ciliberto, MD – University of Iowa; Dewi Depositario-Cabacar, MD – Children's National; Krista Eschbach, MD – Children's Hospital Colorado; Satyanarayana Gedela, MD – CHOA; Ernesto Gonzales-Giraldo, MD – University of California San Francisco; Zach Grinspan, MD – Weill Cornell Medical Center; Samir Karia, MD – University of Louisville; Jennifer koop, MD – Medical College of Wisconsin; Chad Manuel, MD – Vanderbilt University Medical Center; Ahmad Marashly, MD – The Johns Hopkins Hospital; Michael McCormack, MD – Vanderbilt University Medical Center; Nancy McNamara, MD – University of Michigan; Srishti Nangia, MD – Weill Cornell Medical Center; Joffre Olaya, MD – Children's Hospital Orange County; Adam Ostendorf, MD – Nationwide Children's Hospital; Scott Perry, MD – Cook Children's Hospital; Shilpa Reddy, MD – Vanderbilt University Medical Center; Erin Romanowski, MD – University of Michigan; Debopam Samanta, MD – University of Arkansas; Rani Singh, MD – Atrium Health/Levine Children's Hospital; Joseph Sullivan, MD – University of California San Francisco; Priyamvada Tatachar, MD – Lurie Children's Hospital; Steven Wolf, MD – Boston Children’s Health Physicians/Maria Fareri Children’s Hospital; Lily Wong-Kisiel, MD – Mayo Clinic
This is a Late Breaking abstract
Rationale: Epilepsy surgery is a necessary tool for management of pharmacoresistant epilepsy (PRE). It is increasingly appreciated that genetic etiologies are frequently present in children with PRE and structural and genetic etiologies are not mutually exclusive. This study prospectively explores surgery in children with a known genetic epilepsy at the time of surgery, the overall efficacy of surgeries, and comparative efficacy between genetic conditions with structural epileptogenic regions vs those that are typically non-lesional.
Methods: The Pediatric Epilepsy Research Consortium (PERC) surgery database identified patients < 20 years of age who completed surgery and had a known genetic etiology prior to surgical intervention, across 18 centers. Genetic etiology was confirmed at individual sites through clinical diagnosis or diagnostic testing. Single gene disorders were stratified a priori into a structural group based on common or occasional structural abnormalities associated with the disorder (ex. tuberous sclerosis) and a non-lesional category for conditions with rare or unreported structural associations (ex. channelopathies). Surgeries were identified as either curative or palliative intent at the time of surgery. Epilepsy syndromes without known pathogenic variants (e.g., Lennox-Gastaut), variants of unknown significance, and developmental malformations without known genetic associations were excluded.
Results: Of 82 children meeting above criteria, 79 had surgery type identified. The most common surgery types were: neuromodulation (21), callosotomy (17), lobectomy (12), lesionectomy (11), combined/multiple (5), thermal ablation (5), hemispherectomy (3), multilobar (2), and other (3).
Of the 69 with single gene disorders who underwent epilepsy surgery, 51 were categorized as structural genes and 18 as non-lesional (Table 1). Additional etiologies included chromosomal (9) and metabolic (1). 58/78 subjects (74%) had abnormal neuroimaging, and these were more common in structural genes (90%) and chromosomal causes (78%) relative to non-lesional genes (22%).
Outcome data were available for 66 children, with mean follow-up of 10.7 months (range 1-39), including 3 deaths (3-9 months post-surgery). Overall, 2/3 of children experienced >50% seizure reduction (Table 2), which was greatest with non-lesional genes (86%) and chromosomal disorders (78%). Additionally, 29% of children were seizure free; however, this was more common in the structural gene group (36%) relative to non-lesional genes and chromosomal cases (21 and 22%, respectively). Only 34% of all surgeries were planned with a curative intent, with a majority of these being with structural genes.
Conclusions: Epilepsy surgery provides significant seizure reduction in children known to have a genetic etiology. Focal structural lesions are associated with a higher likelihood of seizure freedom, but palliative effects are strongly seen among all groups, with 2/3 of the population having >50% seizure reduction. This data supports the continued usage of surgical approaches across a broad spectrum of genetic epilepsies.
Funding: Not applicable
Surgery