The severe epilepsy syndromes of infancy: A population?based study

Objective To study the epilepsy syndromes among severe epilepsies of infancy and assess their incidence, etiologies, outcomes. Methods A population-based cohort was undertaken with onset before age 18 months in Victoria, Australia. Two epileptologists reviewed clinical features, seizure videos, electroencephalograms to diagnose International League Against Epilepsy syndromes. Incidence, outcomes at 2 years were determined. Results Seventy-three 114 (64%) infants fulfilled diagnostic criteria for presentation, 16 (14%) had "variants" which there one missing or different feature, where all classical features not yet emerged. West syndrome (WS) "WS-like" (infantile spasms without hypsarrhythmia modified hypsarrhythmia) most common syndromes, a combined incidence 32.7/100 000 live births/year. The migrating focal seizures (EIMFS) 4.5/100 early infantile epileptic encephalopathy (EIEE) 3.6/100 000. Structural etiologies (100%), unifocal (83%), WS (39%), whereas single gene disorders predominated EIMFS, EIEE, Dravet syndrome. Eighteen (16%) died years. Development delayed borderline 85 96 (89%) survivors, being severe–profound 40 (42%). All EIEE EIMFS delay deceased, but only 19 64 (30%) WS, "WS-like," "unifocal epilepsy" delay, two (3%) deceased. Significance Three quarters could be assigned an "variant syndrome" presentation. In this era genomic testing advanced brain imaging, diagnosing presentation remains clinically useful guiding etiologic investigation, initial treatment, prognostication.