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Title: Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation.
Austin Authors: Yuskaitis, Christopher J;Ruzhnikov, Maura R Z;Howell, Katherine B;Allen, I Elaine;Kapur, Kush;Dlugos, Dennis J;Scheffer, Ingrid E ;Poduri, Annapurna;Sherr, Elliott H
Affiliation: Epilepsy Research Centre, Department of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia
Department of Epidemiology and Biostatistics/UCSF, University of California San Francisco, San Francisco, California
Department of Neurology and Division of Epilepsy, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts
The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania
Division of Medical Genetics and Department of Pediatrics, Stanford University, Stanford, California
Department of Neurology, Royal Children's Hospital, Parkville, Victoria, Australia
Departments of Neurology and Pediatrics, University of California San Francisco, San Francisco, California
Issue Date: 2018 2018-05-07
Publication information: Pediatric neurology 2018; 87: 48-56
Abstract: No large-scale studies have specifically evaluated the outcomes of infantile spasms (IS) of unknown cause, previously known as cryptogenic or idiopathic. The Epilepsy Phenome/Genome Project aimed to characterize IS of unknown cause by phenotype and genotype analysis. We undertook a retrospective multicenter observational cohort of 133 individuals within the Epilepsy Phenome/Genome Project database met criteria for IS of unknown cause with at least six months of follow-up data. Clinical medical records, imaging, and electroencephalography were examined. Normal development occurred in only 15% of IS of unknown cause. The majority (85%) had clinically documented developmental delay (15% mild, 20% moderate, and 50% severe) at last assessment (median 2.7 years; interquartile interval 1.71-6.25 years). Predictors of positive developmental outcomes included no delay prior to IS (P < 0.001), older age of IS onset (median six months old), and resolution of IS after initial treatment (P < 0.001). Additional seizures after IS occurred in 67%, with predictors being seizures prior to IS (P = 0.018), earlier age of IS onset (median five months old), and refractory IS (P = 0.008). On a research basis, whole exome sequencing identified 15% with de novo variants in known epilepsy genes. Individuals with a genetic finding were more likely to have poor developmental outcomes (P = 0.035). The current study highlights the predominately unfavorable developmental outcomes and that subsequent seizures are common in children with IS of unknown cause. Ongoing genetic evaluation of IS of seemingly unknown cause is likely to yield a diagnosis and provide valuable prognostic information.
DOI: 10.1016/j.pediatrneurol.2018.04.012
ORCID: 0000-0002-2311-2174
PubMed URL: 30174244
Type: Journal Article
Subjects: Cryptogenic infantile spasms
Developmental outcomes
Epilepsy genetics
Epileptic encephalopathy
Infantile spasms
Appears in Collections:Journal articles

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