Seizures in Fragile X Syndrome: Characteristics and Comorbid Diagnoses
Abstract
A national survey of caregivers of individuals with fragile X syndrome addressed characteristics of epilepsy and co-occurring conditions. Of the 1,394 individuals (1,090 males and 304 females) with the full mutation, 14% of males and 6% of females reported seizures. Seizures were more often partial, began between ages 4 and 10 years, and were infrequent and easily treated. Similar characteristics and patterns were seen in medical chart review data from a large clinic cohort of patients with fragile X syndrome. National survey data showed that autism was significantly associated with seizures as a co-occurring condition. Although seizures in fragile X syndrome are typically not severe and easily treated with medications, they appear to be associated with developmental–behavioral comorbidity that impacts function.
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FXS patients are characterized by a high incidence of hyperexcitable EEG patterns and cortically derived seizures.
“In addition to developmental delay, FXS patients are characterized by a high incidence of hyperexcitable EEG patterns and cortically derived seizures 102 .”
From Developmental timing and critical windows for the treatment of psychiatric disorders (2016) · cites this paper as [102]
Cites
Verkerk, A. J. M. H., Pieretti, M., Sutcliffe, J. S., Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M. F., Zhang, F., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90397-h · Cited by 3,481 · see citing works
Abnormal dendritic spines in fragile X knockout mice: Maturation and pruning deficits
Comery, T. A., Harris, J. B., Willems, P. J., Oostra, B. A., Irwin, S. A., Weiler, I. J., & Greenough, W. T. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.10.5401 · Cited by 1,046 · see citing works
The role of epilepsy and epileptiform EEGs in autism spectrum disorders
Spence, S. J., & Schneider, M. T. (2009) · Pediatric Research · doi:10.1203/pdr.0b013e31819e7168 · Cited by 418 · see citing works
Weiler, I. J., Spangler, C. C., Klintsova, A. Y., Grossman, A. W., Kim, S. H., Bertaina-Anglade, V., Khaliq, H., de Vries, F. E., Lambers, F. A. E., Hatia, F., et al. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0407533101 · Cited by 210 · see citing works
Understanding fragile X syndrome
Berry-Kravis, E., Grossman, A. W., Crnic, L. S., & Greenough, W. T. (2002) · Current Paediatrics · doi:10.1054/cupe.2002.0305 · Cited by 29 · see citing works
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Hagerman, R. J., Berry-Kravis, E., Hazlett, H. C., Bailey, D. B., Moine, H., Kooy, R. F., Tassone, F., Gantois, I., Sonenberg, N., Mandel, J. L., et al. (2017) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2017.65 · Cited by 838 · see citing works
Self-citationDevelopmental timing and critical windows for the treatment of psychiatric disorders
Marín, O. (2016) · Nature Medicine · doi:10.1038/nm.4225 · Cited by 374 · see citing works
Autism spectrum disorder in fragile X syndrome: cooccurring conditions and current treatment
Kaufmann, W. E., Kidd, S. A., Andrews, H. F., Budimirovic, D. B., Esler, A., Haas-Givler, B., Stackhouse, T., Riley, C., Peacock, G., Sherman, S. L., et al. (2017) · PEDIATRICS · doi:10.1542/peds.2016-1159f · Cited by 268 · see citing works
Fragile X syndrome: a review of associated medical problems
Kidd, S. A., Lachiewicz, A., Barbouth, D., Blitz, R. K., Delahunty, C., McBrien, D., Visootsak, J., & Berry-Kravis, E. (2014) · Pediatrics · doi:10.1542/peds.2013-4301 · Cited by 255 · see citing works
Self-citationFragile X and autism: intertwined at the molecular level leading to targeted treatments
Hagerman, R., Hoem, G., & Hagerman, P. (2010) · Molecular Autism · doi:10.1186/2040-2392-1-12 · Cited by 247 · see citing works
Modeling fragile X syndrome in the <i>Fmr1</i> knockout mouse
Kazdoba, T. M., Leach, P. T., Silverman, J. L., & Crawley, J. N. (2014) · Intractable & Rare Diseases Research · doi:10.5582/irdr.2014.01024 · Cited by 241 · see citing works
Lozano, R., Rosero, C. A., & Hagerman, R. J. (2014) · Intractable & Rare Diseases Research · doi:10.5582/irdr.2014.01022 · Cited by 186 · see citing works
Fragile X: Leading the Way for Targeted Treatments in Autism
Wang, L. W., Berry-Kravis, E., & Hagerman, R. J. (2010) · Neurotherapeutics · doi:10.1016/j.nurt.2010.05.005 · Cited by 176 · see citing works
Self-citationFragile X syndrome: a review of clinical and molecular diagnoses
Ciaccio, C., Fontana, L., Milani, D., Tabano, S., Miozzo, M., & Esposito, S. (2017) · Italian Journal of Pediatrics · doi:10.1186/s13052-017-0355-y · Cited by 160 · see citing works
Chonchaiya, W., Au, J., Schneider, A., Hessl, D., Harris, S. W., Laird, M., Mu, Y., Tassone, F., Nguyen, D. V., & Hagerman, R. J. (2012) · Human Genetics · doi:10.1007/s00439-011-1106-6 · Cited by 109 · see citing works
FMR1 premutation and full mutation molecular mechanisms related to autism
Hagerman, R., Au, J., & Hagerman, P. (2011) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-011-9084-5 · Cited by 85 · see citing works
Metformin treatment in young children with fragile X syndrome
Biag, H. M. B., Potter, L. A., Wilkins, V., Afzal, S., Rosvall, A., Salcedo‐Arellano, M. J., Rajaratnam, A., Manzano‐Nunez, R., Schneider, A., Tassone, F., et al. (2019) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.956 · Cited by 68 · see citing works
Brand, B. A., Blesson, A. E., & Smith-Hicks, C. L. (2021) · Brain Sciences · doi:10.3390/brainsci11070904 · Cited by 39 · see citing works
- Authors
- Berry-Kravis, E., Raspa, M., Loggin-Hester, L., Bishop, E., Holiday, D., & Bailey, D. B.
- Affiliations
- Rush University Medical Center
- RTI International (US)
- Rush University Medical Center (US)
- Venue
- American Journal on Intellectual and Developmental Disabilities
- Publisher
- Informa UK Limited
- Published
- 2010-11-01
- Volume
- 115
- Issue
- 6
- Pages
- 461-472
- ISSN
- 1944-7558 (ISSN-L)
- 1944-7515
- OpenAlex
- W2030308305
- Cited by
- 155
- References
- 5
- Citations by year
- 2026: 2 · 2025: 2 · 2024: 6 · 2023: 8 · 2022: 13 · 2021: 13 · 2020: 13 · 2019: 11 · 2018: 4 · 2017: 18 · 2016: 9 · 2015: 7 · 2014: 19 · 2013: 9 · 2012: 7
- FWCI
- 5.41
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal on Intellectual and Developmental Disabilities (publishedVersion)
- PubMed (publishedVersion)
- Funders
- U.S. Public Health Service (U50/CCU 300860)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Health Sciences › Medicine › Psychiatry and Mental health › Epilepsy research and treatment
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Keywords
- fragile X syndrome, seizures, epilepsy, autism spectrum disorder, comorbidities, seizure characteristics, seizure medications, full mutation, intellectual disability
- MeSH terms
- Adult, Anticonvulsants, Child, Child, Preschool, Epilepsy, Family Health, Female, Fragile X Syndrome, Health Surveys, Humans, Male, Parents, Physicians, Severity of Illness Index, Comorbidity, Prevalence, Age of Onset
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