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dc.contributor.authorAlbizua, Igor
dc.contributor.authorCharen, Krista
dc.contributor.authorShubeck, Lisa
dc.contributor.authorTalboy, Amy
dc.contributor.authorBerry-Kravis, Elizabeth
dc.contributor.authorKaufmann, Walter E.
dc.contributor.authorStallworth, Jennifer L.
dc.contributor.authorDrazba, Katy T.
dc.contributor.authorErickson, Craig A.
dc.contributor.authorSweeney, John A.
dc.contributor.authorTartaglia, Nicole
dc.contributor.authorWarren, Steven F.
dc.contributor.authorHagerman, Randi
dc.contributor.authorSherman, Stephanie L.
dc.contributor.authorWarren, Stephen T.
dc.contributor.authorJin, Peng
dc.contributor.authorAllen, Emily G.
dc.date.accessioned2022-10-25T18:56:55Z
dc.date.available2022-10-25T18:56:55Z
dc.date.issued2022-07-18
dc.identifier.citationAlbizua, Igor et al. “Descriptive analysis of seizures and comorbidities associated with fragile X syndrome.” Molecular genetics & genomic medicine vol. 10,8 (2022): e2001. doi:10.1002/mgg3.2001en_US
dc.identifier.urihttp://hdl.handle.net/1808/33622
dc.description.abstractBackground Fragile X syndrome is characterized by a myriad of physical features, behavioral features, and medical problems. Commonly found behavioral features are hyperactivity, anxiety, socialization difficulties, and ASD. There is also a higher incidence than in the general population of strabismus, otitis media, and mitral valve prolapse. In addition, one of the most common medical problems associated with FXS is an increased risk of seizures. A subset of individuals carrying the full mutation of the FMR1 gene and diagnosed with fragile X syndrome (FXS) are reported to experience seizures, mostly during the first 10 years of their life span.

Methods As part of a larger project to identify genetic variants that modify the risk of seizures, we collected clinical information from 49 carriers with FXS who experienced seizures and 46 without seizures. We compared seizure type and comorbid conditions based on the source of data as well as family history of seizures.

Results We found that the concordance of seizure types observed by parents and medical specialists varied by type of seizure. The most common comorbid condition among those with seizures was autism spectrum disorder (47% per medical records vs. 33% per parent report compared with 19% among those without seizures per parent report); the frequency of other comorbid conditions did not differ among groups. We found a slightly higher frequency of family members who experienced seizures among the seizure group compared with the nonseizure group.

Conclusion This study confirms previously reported features of seizures in FXS, supports additional genetic factors, and highlights the importance of information sources, altogether contributing to a better understanding of seizures in FXS.
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dc.publisherWiley Open Accessen_US
dc.rights© 2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License.en_US
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/en_US
dc.subjectADHDen_US
dc.subjectAutism spectrum disorderen_US
dc.subjectEpilepsyen_US
dc.subjectFragile X syndromeen_US
dc.subjectSeizuresen_US
dc.titleDescriptive analysis of seizures and comorbidities associated with fragile X syndromeen_US
dc.typeArticleen_US
kusw.kuauthorWarren, Steven F.
kusw.kudepartmentSpeech‐Language‐Hearing: Sciences & Disordersen_US
kusw.oanotesPer Sherpa Romeo 10/25/2022:

Molecular Genetics and Genomic Medicine [Open panel below]Publication Information TitleMolecular Genetics and Genomic Medicine [English] ISSNsElectronic: 2324-9269 URLhttps://onlinelibrary.wiley.com/journal/23249269 PublishersWiley Open Access [Commercial Publisher] DOAJ Listinghttps://doaj.org/toc/2324-9269 Requires APCYes [Data provided by DOAJ] [Open panel below]Publisher Policy Open Access pathways permitted by this journal's policy are listed below by article version. Click on a pathway for a more detailed view.

Published Version NoneCC BYPMC Any Website, Journal Website, +3 OA PublishingThis pathway includes Open Access publishing EmbargoNo Embargo LicenceCC BY Copyright OwnerAuthors Publisher DepositPubMed Central Location Any Website Institutional Repository Named Repository (PubMed Central) Subject Repository Journal Website Conditions Hosting site must incorporate publisher-supplied amendments or retractions issued Published source must be acknowledged Must link to published article with DOI
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dc.identifier.doi10.1002/mgg3.2001en_US
dc.identifier.orcidhttps://orcid.org/0000-0002-8675-1352en_US
kusw.oaversionScholarly/refereed, publisher versionen_US
kusw.oapolicyThis item meets KU Open Access policy criteria.en_US
dc.identifier.pmidPMC9356544en_US
dc.rights.accessrightsopenAccessen_US


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© 2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License.
Except where otherwise noted, this item's license is described as: © 2022 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License.