The severe epilepsy syndromes of infancy: A population-based study.
Anticonvulsants
/ therapeutic use
Child, Preschool
Cohort Studies
Developmental Disabilities
/ epidemiology
Disease Progression
Electroencephalography
Epilepsies, Myoclonic
/ drug therapy
Epileptic Syndromes
/ drug therapy
Female
Humans
Incidence
Infant
Infant, Newborn
Lennox Gastaut Syndrome
/ drug therapy
Male
Malformations of Cortical Development
/ complications
Mortality
Severity of Illness Index
Spasms, Infantile
/ drug therapy
Victoria
/ epidemiology
Dravet syndrome
West syndrome
early infantile epileptic encephalopathy
epilepsy of infancy with migrating focal seizures
epilepsy syndrome
Journal
Epilepsia
ISSN: 1528-1167
Titre abrégé: Epilepsia
Pays: United States
ID NLM: 2983306R
Informations de publication
Date de publication:
02 2021
02 2021
Historique:
received:
05
11
2020
revised:
07
12
2020
accepted:
22
12
2020
pubmed:
22
1
2021
medline:
20
4
2021
entrez:
21
1
2021
Statut:
ppublish
Résumé
To study the epilepsy syndromes among the severe epilepsies of infancy and assess their incidence, etiologies, and outcomes. 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. 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. 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.
Substances chimiques
Anticonvulsants
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
358-370Subventions
Organisme : University of Melbourne
Organisme : Melbourne Children's Campus
Organisme : National Health and Medical Research Council
Organisme : NIH HHS
ID : NS069605
Pays : United States
Organisme : NIH HHS
ID : NS069605
Pays : United States
Informations de copyright
© 2021 International League Against Epilepsy.
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