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How should children with West syndrome be efficiently and accurately investigated? Results from the National Infantile Spasms Consortium
Journal article   Open access   Peer reviewed

How should children with West syndrome be efficiently and accurately investigated? Results from the National Infantile Spasms Consortium

Elaine C. Wirrell, Renee A. Shellhaas, Charuta Joshi, Cynthia Keator, Shilpi Kumar, Wendy G. Mitchell, PERC and Swosti Joshi
Epilepsia (Copenhagen), v 56(4), pp 617-625
01 Apr 2015
DOI: https://doi.org/10.1111/epi.12951
PMID: 25779538
Featured in Collection :   UN Sustainable Development Goals @ Drexel
url
https://doi.org/10.1111/epi.12951View
Published, Version of Record (VoR)Maybe Open Access (Publisher Bronze),  Open

Abstract

Clinical Neurology Life Sciences & Biomedicine Neurosciences & Neurology Science & Technology
ObjectiveTo prospectively evaluate the etiology of new-onset infantile spasms and evaluate the yield of genetic and metabolic investigations in those without obvious cause after initial clinical evaluation and magnetic resonance imaging (MRI). MethodsTwenty-one U.S. pediatric epilepsy centers prospectively enrolled infants with newly diagnosed West syndrome in a central database. Etiology and investigations performed within 3months of diagnosis were documented. ResultsFrom June 2012 to June 2014, a total of 251 infants were enrolled (53% male). A cause was identified in 161 (64.4%) of 250 cases (genetic,14.4%; genetic-structural, 10.0%; structural-congenital, 10.8%; structural-acquired, 22.4%; metabolic, 4.8%; and infectious, 2.0%). An obvious cause was found after initial clinical assessment (history and physical examination) and/or MRI in 138 of 161, whereas further genetic and metabolic studies were revealing in another 23 cases. Of 112 subjects without an obvious cause after initial evaluation and MRI, 81 (72.3%) had undergone genetic testing, which showed a causal abnormality in 23.5% and a variant of unknown significance in 14.8%. Although metabolic studies were done in the majority (serum, 79.5%; urine, 69.6%; and cerebrospinal fluid [CSF], 38.4%), these revealed an etiology in only five cases (4.5%). No correlation was found between type of health insurance (public vs. private) and either genetic or metabolic testing. SignificanceClinical evaluation and MRI provide a specific diagnosis in 55% of children presenting with West syndrome. We propose that a cost-effective workup for those without obvious cause after initial clinical evaluation and MRI includes an array comparative genomic hybridization (aCGH) followed by an epilepsy gene panel if the microarray is not definitive, serum lactate, serum amino acids, and urine organic acids.

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124 citations in Web of Science
134 citations in Scopus

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Collaboration types
Domestic collaboration
Web of Science research areas
Clinical Neurology
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