Abstract: Objectives: We assessed the adherence to neuroimaging guidelines and the diagnostically relevant yield of neuroimaging in newly presenting early life epilepsy (ELE).
Methods: There were 775 children with a new diagnosis of epilepsy (<3 years old at onset) who were recruited through the ELE study at 17 US pediatric epilepsy centers (2012-2015) and managed prospectively for 1 year. The data were analyzed to assess the proportion of children who underwent neuroimaging, the type of neuroimaging, and abnormalities.
Results: Of 725 children (93.5%) with neuroimaging, 714 had an MRI (87% with seizure protocols) and 11 had computed tomography or ultrasound only. Etiologically relevant abnormalities were present in 290 individuals (40%) and included: an acquired injury in 97 (13.4%), malformations of cortical development in 56 (7.7%), and other diffuse disorders of brain development in 51 (7.0%). Neuroimaging was abnormal in 160 of 262 (61%) children with abnormal development at diagnosis versus 113 of 463 (24%) children with typical development. Neuroimaging abnormalities were most common in association with focal seizure semiology (40%), spasms (47%), or unclear semiology (42%). In children without spasms or focal semiology with typical development, 29 of 185 (16%) had imaging abnormalities. Pathogenic genetic variants were identified in 53 of 121 (44%) children with abnormal neuroimaging in whom genetic testing was performed.
Conclusions: Structural abnormalities occur commonly in ELE, and adherence to neuroimaging guidelines is high at US pediatric epilepsy centers. These data support the universal adoption of imaging guidelines because the yield is substantially high, even in the lowest risk group.
Competing Interests: POTENTIAL CONFLICT OF INTEREST: Dr Wirrell has received a consulting fee from Biomarin; Dr Knupp has served as a consultant for Zogenix and has an additional grant funded by the Pediatric Epilepsy Research Foundation; Dr Sullivan has served as an expert witness in various cases that involve seizures in children in which he was not subpoenaed. Subjects who were enrolled in this study by Dr Sullivan were seen as part of routine clinical care; Dr Patel discloses consulting with Greenwich Biosciences, UCB Pharma, Supernus, and LivaNova. He has pending or active grants with the Pediatric Epilepsy Research Foundation, Upsher-Smith, Greenwich Biosciences, and LivaNova; Dr Loddenkemper discloses board membership service on the council (and as president) of the American Clinical Neurophysiology Society and the American Board of Clinical Neurophysiology. He serves as committee chair at the American Epilepsy Society (Special Interest Group and Investigator Workshop committees) and as founder and consortium principal investigator of the pediatric Status Epilepticus Research Group. He received grant support from federal epilepsy-related groups as well as from pharmaceutical companies, including research support from the National Institutes of Health, the Patient-Centered Outcomes Research Institute, the Epilepsy Research Fund, the American Epilepsy Society, the Epilepsy Foundation of America, the Epilepsy Therapy Project, the Pediatric Epilepsy Research Foundation, and Citizens United for Research in Epilepsy, and he received research grants from Lundbeck, Eisai, Upsher-Smith, Mallinckrodt, Sage, and Pfizer. Dr Loddenkemper is part of pending patent applications to detect and predict seizures and to diagnose epilepsy; the other authors have indicated they have no potential conflicts of interest to disclose.
(Copyright © 2018 by the American Academy of Pediatrics.)
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