Clinical Characterization of Epilepsy in Children With Angelman Syndrome.

Autor: Cassater D; Roche Pharma Product Development, Immunology, Infectious Diseases and Ophthalmology (I2O), F. Hoffmann-La Roche Ltd., Basel, Switzerland., Bustamante M; Roche Pharma Research and Early Development, pRED Informatics, Roche Innovation Center Basel, F. Hoffmann-La Roche Ltd., Basel, Switzerland., Sach-Peltason L; Roche Pharma Research and Early Development, pRED Informatics, Roche Innovation Center Basel, F. Hoffmann-La Roche Ltd., Basel, Switzerland., Rotenberg A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., Nespeca M; Department of Pediatrics, University of California, San Diego, Genetics/Dysmorphology, Rady Children's Hospital San Diego, San Diego, California; Department of Neuroscience, University of California, San Diego, Genetics/Dysmorphology, Rady Children's Hospital San Diego, San Diego, California., Tan WH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts., Bird LM; Department of Pediatrics, University of California, San Diego, Genetics/Dysmorphology, Rady Children's Hospital San Diego, San Diego, California., Hipp JF; Roche Pharma Research and Early Development, Neuroscience and Rare Diseases, Roche Innovation Center Basel, F. Hoffmann-La Roche Ltd., Basel, Switzerland. Electronic address: joerg.hipp@roche.com.
Jazyk: angličtina
Zdroj: Pediatric neurology [Pediatr Neurol] 2021 Nov; Vol. 124, pp. 42-50. Date of Electronic Publication: 2021 Aug 31.
DOI: 10.1016/j.pediatrneurol.2021.08.007
Abstrakt: Background: Epilepsy is highly prevalent in children with Angelman syndrome (AS), and its detailed characterization and relationship to the genotype (deletion vs nondeletion) is important both for medical practice and for clinical trial design.
Methods and Materials: We retrospectively analyzed the main clinical features of epilepsy in 265 children with AS who were enrolled in the AS Natural History Study, a multicenter, observational study conducted at six centers in the United States. Participants were prospectively followed up and classified by genotype.
Results: Epilepsy was reported in a greater proportion of individuals with a deletion than a nondeletion genotype (171 of 187 [91%] vs. 48 of 78 [61%], P < 0.001). Compared with participants with a nondeletion genotype, those with deletions were younger at the time of the first seizure (age: median [95% confidence interval]: 24 [21-24] months vs. 57 [36-85] months, P < 0.001) and had a higher prevalence of generalized motor seizures. Hospitalization following a seizure was reported in more children with a deletion than a nondeletion genotype (92 of 171 [54%] vs. 17 of 48 [36%], P = 0.04). The overall prevalence of absence seizures was not significantly different between genotype groups. Forty-six percent (102/219) of the individuals reporting epilepsy were diagnosed with AS concurrently or after their first seizure.
Conclusions: Significant differences exist in the clinical expression of epilepsy in AS according to the underlying genotype, with earlier age of onset and more severe epilepsy in individuals with AS due to a chromosome 15 deletion.
(Copyright © 2021 The Author(s). Published by Elsevier Inc. All rights reserved.)
Databáze: MEDLINE
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