Seizures in Fragile X Syndrome: Associations and Longitudinal Analysis of a Large Clinic-Based Cohort
Author
Berry-Kravis, E.Filipink, R.A.
Frye, R.E.
Golla, S.
Morris, S.M.
Andrews, H.
Choo, T.-H.
Kaufmann, W.E.
FORWARD Consortium
Affiliation
Department of Child Health, University of Arizona College of Medicine–PhoenixIssue Date
2021
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Frontiers Media S.A.Citation
Berry-Kravis, E., Filipink, R. A., Frye, R. E., Golla, S., Morris, S. M., Andrews, H., Choo, T.-H., Kaufmann, W. E., & The FORWARD Consortium. (2021). Seizures in Fragile X Syndrome: Associations and Longitudinal Analysis of a Large Clinic-Based Cohort. Frontiers in Pediatrics.Journal
Frontiers in PediatricsRights
Copyright © 2021 Berry-Kravis, Filipink, Frye, Golla, Morris, Andrews, Choo, Kaufmann and the FORWARD Consortium. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY).Collection Information
This item from the UA Faculty Publications collection is made available by the University of Arizona with support from the University of Arizona Libraries. If you have questions, please contact us at repository@u.library.arizona.edu.Abstract
Fragile X syndrome (FXS), the most common inherited cause of intellectual disability, learning disability, and autism spectrum disorder, is associated with an increased prevalence of certain medical conditions including seizures. The goal of this study was to better understand seizures in individuals with FXS using the Fragile X Online Registry with Accessible Research Database, a multisite observational study initiated in 2012 involving FXS clinics in the Fragile X Clinic and Research Consortium. Seizure data were available for 1,607 participants, mostly male (77%) and white (74.5%). The overall prevalence of at least one seizure was 12%, with this rate being significantly higher in males than females (13.7 vs. 6.2%, p < 0.001). As compared to individuals with FXS without seizures, those with seizures were more likely to have autism spectrum disorder, current sleep apnea, later acquisition of expressive language, more severe intellectual disability, hyperactivity, irritability, and stereotyped movements. The mean age of seizure onset was 6.4 (SD 6.1) years of age with the great majority (>80%) having onset of seizures which was before 10. For those with epilepsy, about half (52%) had seizures for more than 3 years. This group was found to have greater cognitive and language impairment, but not behavioral disruptions, compared with those with seizures for <3 years. Antiepileptic drugs were more often used in males (60.6%) than females (34.8%), and females more often required more than one medication. The most commonly used anticonvulsants were oxcarbazepine, valproic acid, lamotrigine, and levetiracetam. The current study is the largest and first longitudinal study ever conducted to describe seizures in FXS. Overall, this study confirms previous reports of seizures in FXS and extends previous findings by further defining the cognitive and behavioral phenotype of those with epilepsy in FXS. Future studies should further investigate the natural history of seizures in FXS and the characteristics of seizures in FXS in adulthood. Copyright © 2021 Berry-Kravis, Filipink, Frye, Golla, Morris, Andrews, Choo, Kaufmann and the FORWARD Consortium.Note
Open access journalISSN
2296-2360Version
Final published versionae974a485f413a2113503eed53cd6c53
10.3389/fped.2021.736255
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Except where otherwise noted, this item's license is described as Copyright © 2021 Berry-Kravis, Filipink, Frye, Golla, Morris, Andrews, Choo, Kaufmann and the FORWARD Consortium. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY).

