Katherine B Howell1,2,3, Jeremy L Freeman1,3, Mark T Mackay2,3, Michael C Fahey4,5, John Archer6, Samuel F Berkovic6,7, Eunice Chan1,2,3, Gabriel Dabscheck1,2,3, Stefanie Eggers8, Michael Hayman1,2,3,4, James Holberton9, Rodney W Hunt2,3,10, Susan E Jacobs11, Andrew J Kornberg1,2,3, Richard J Leventer1,2,3, Simone Mandelstam2,3,7,12, Jacinta M McMahon6, Heather C Mefford13, Julie Panetta14, Jessica Riseley8, Victoria Rodriguez-Casero1,2,3, Monique M Ryan1,2,3, Amy L Schneider6, Lindsay J Smith4, Zornitza Stark2,3, Flora Wong5,15, Eppie M Yiu1,2,3, Ingrid E Scheffer1,2,3,6,7, A Simon Harvey1,2,3. 1. Department of Neurology, Royal Children's Hospital, Melbourne, Vic, Australia. 2. Department of Paediatrics, University of Melbourne, Melbourne, Vic, Australia. 3. Murdoch Children's Research Institute, Melbourne, Vic, Australia. 4. Department of Neurology, Monash Children's Hospital, Melbourne, Vic, Australia. 5. Department of Paediatrics, Monash University, Melbourne, Vic, Australia. 6. Department of Medicine, Epilepsy Research Centre, Austin Health, University of Melbourne, Melbourne, Vic, Australia. 7. Florey Institute of Neuroscience and Mental Health, Melbourne, Vic, Australia. 8. Victorian Clinical Genetics Service, Melbourne, Vic, Australia. 9. Department of Neonatology, Mercy Hospital for Women, Melbourne, Vic, Australia. 10. Department of Neonatology, Royal Children's Hospital, Melbourne, Vic, Australia. 11. Neonatal Services, Royal Women's Hospital, Melbourne, Vic, Australia. 12. Department of Radiology, Royal Children's Hospital, Melbourne, Vic, Australia. 13. Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA. 14. Northern Health, Melbourne, Vic, Australia. 15. Monash Newborn, Monash Children's Hospital, Melbourne, Vic, Australia.
Abstract
OBJECTIVE: To study the epilepsy syndromes among the severe epilepsies of infancy and assess their incidence, etiologies, and outcomes. METHODS: A population-based cohort study was undertaken of severe epilepsies with onset before age 18 months in Victoria, Australia. Two epileptologists reviewed clinical features, seizure videos, and electroencephalograms to diagnose International League Against Epilepsy epilepsy syndromes. Incidence, etiologies, and outcomes at age 2 years were determined. RESULTS: Seventy-three of 114 (64%) infants fulfilled diagnostic criteria for epilepsy syndromes at presentation, and 16 (14%) had "variants" of epilepsy syndromes in which there was one missing or different feature, or where all classical features had not yet emerged. West syndrome (WS) and "WS-like" epilepsy (infantile spasms without hypsarrhythmia or modified hypsarrhythmia) were the most common syndromes, with a combined incidence of 32.7/100 000 live births/year. The incidence of epilepsy of infancy with migrating focal seizures (EIMFS) was 4.5/100 000 and of early infantile epileptic encephalopathy (EIEE) was 3.6/100 000. Structural etiologies were common in "WS-like" epilepsy (100%), unifocal epilepsy (83%), and WS (39%), whereas single gene disorders predominated in EIMFS, EIEE, and Dravet syndrome. Eighteen (16%) infants died before age 2 years. Development was delayed or borderline in 85 of 96 (89%) survivors, being severe-profound in 40 of 96 (42%). All infants with EIEE or EIMFS had severe-profound delay or were deceased, but only 19 of 64 (30%) infants with WS, "WS-like," or "unifocal epilepsy" had severe-profound delay, and only two of 64 (3%) were deceased. SIGNIFICANCE: Three quarters of severe epilepsies of infancy could be assigned an epilepsy syndrome or "variant syndrome" at presentation. In this era of genomic testing and advanced brain imaging, diagnosing epilepsy syndromes at presentation remains clinically useful for guiding etiologic investigation, initial treatment, and prognostication.
OBJECTIVE: To study the epilepsy syndromes among the severe epilepsies of infancy and assess their incidence, etiologies, and outcomes. METHODS: A population-based cohort study was undertaken of severe epilepsies with onset before age 18 months in Victoria, Australia. Two epileptologists reviewed clinical features, seizure videos, and electroencephalograms to diagnose International League Against Epilepsy epilepsy syndromes. Incidence, etiologies, and outcomes at age 2 years were determined. RESULTS: Seventy-three of 114 (64%) infants fulfilled diagnostic criteria for epilepsy syndromes at presentation, and 16 (14%) had "variants" of epilepsy syndromes in which there was one missing or different feature, or where all classical features had not yet emerged. West syndrome (WS) and "WS-like" epilepsy (infantile spasms without hypsarrhythmia or modified hypsarrhythmia) were the most common syndromes, with a combined incidence of 32.7/100 000 live births/year. The incidence of epilepsy of infancy with migrating focal seizures (EIMFS) was 4.5/100 000 and of early infantile epileptic encephalopathy (EIEE) was 3.6/100 000. Structural etiologies were common in "WS-like" epilepsy (100%), unifocal epilepsy (83%), and WS (39%), whereas single gene disorders predominated in EIMFS, EIEE, and Dravet syndrome. Eighteen (16%) infants died before age 2 years. Development was delayed or borderline in 85 of 96 (89%) survivors, being severe-profound in 40 of 96 (42%). All infants with EIEE or EIMFS had severe-profound delay or were deceased, but only 19 of 64 (30%) infants with WS, "WS-like," or "unifocal epilepsy" had severe-profound delay, and only two of 64 (3%) were deceased. SIGNIFICANCE: Three quarters of severe epilepsies of infancy could be assigned an epilepsy syndrome or "variant syndrome" at presentation. In this era of genomic testing and advanced brain imaging, diagnosing epilepsy syndromes at presentation remains clinically useful for guiding etiologic investigation, initial treatment, and prognostication.
Keywords:
Dravet syndrome; West syndrome; early infantile epileptic encephalopathy; epilepsy of infancy with migrating focal seizures; epilepsy syndrome
Authors: Yan Dong; Ruijuan Xu; Yaodong Zhang; Yali Shi; Kaixian Du; Tianming Jia; Jun Wang; Fang Wang Journal: Front Pediatr Date: 2022-05-12 Impact factor: 3.569
Authors: Fiona M Baumer; John R Mytinger; Kerri Neville; Christina Briscoe Abath; Camilo A Gutierrez; Adam L Numis; Chellamani Harini; Zihuai He; Shaun A Hussain; Anne T Berg; Catherine J Chu; William D Gaillard; Tobias Loddenkemper; Archana Pasupuleti; Debopam Samanta; Rani K Singh; Nilika S Singhal; Courtney J Wusthoff; Elaine C Wirrell; Elissa Yozawitz; Kelly G Knupp; Renée A Shellhaas; Zachary M Grinspan Journal: Ann Neurol Date: 2022-04-28 Impact factor: 11.274
Authors: Elaine C Wirrell; Veronica Hood; Kelly G Knupp; Mary Anne Meskis; Rima Nabbout; Ingrid E Scheffer; Jo Wilmshurst; Joseph Sullivan Journal: Epilepsia Date: 2022-05-12 Impact factor: 6.740
Authors: Ozlem Akman; Stephen W Briggs; Wenzhu B Mowrey; Solomon L Moshé; Aristea S Galanopoulou Journal: Epilepsia Date: 2021-07-02 Impact factor: 6.740