Yaiza Hernández Vega1, Anna Smith1, Hannah Cockerill1, Shan Tang2, Zaloa Agirre-Arrizubieta3, Sushma Goyal4, Marisa Pina4, Cigdem I Akman5, Nicola Jolleff3, Colm McGinnity1, Kumudini Gomez6, Rajesh Gupta7, Elaine Hughes4, John Jackman4, David McCormick4, Caroline Oren8, David Scott9, Jacqueline Taylor10, John Trounce11, Tara Clarke12, Steven Kugler13, David E Mandelbaum14, Patricia McGoldrick15, Steven Wolf15, Lisa J Strug16, Deb K Pal17. 1. King's College London, UK. 2. King's College London, UK; King's Health Partners, London, UK. 3. East Kent Hospitals University NHS Foundation Trust, Canterbury, UK. 4. King's Health Partners, London, UK. 5. Neurological Institute, Columbia University, NY, USA. 6. Lewisham Hospital, UK. 7. Tunbridge Wells Hospital, UK. 8. Northwick Park Hospital, UK. 9. Conquest Hospital, UK. 10. Barnet and Chase Farm Hospitals, UK. 11. Brighton and Sussex University Hospitals, UK. 12. Department of Epidemiology, Columbia University, NY, USA. 13. Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, PA, USA. 14. Hasbro Children's Hospital and the Warren Alpert Medical School of Brown University, Providence, RI, USA. 15. Beth Israel Medical Center, NY, USA. 16. Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Canada; Dalla Lana School of Public Health, University of Toronto, Canada. 17. King's College London, UK; King's Health Partners, London, UK. Electronic address: deb.pal@kcl.ac.uk.
Abstract
OBJECTIVE: The high prevalence and impact of neurodevelopmental comorbidities in childhood epilepsy are now well known, as are the increased risks and familial aggregation of reading disability (RD) and speech sound disorder (SSD) in rolandic epilepsy (RE). The risk factors for RD in the general population include male sex, SSD, and ADHD, but it is not known if these are the same in RE or whether there is a contributory role of seizure and treatment-related variables. METHODS: An observational study of 108 probands with RE (age range: 3.6-22 years) and their 159 siblings (age range: 1-29 years; 83 with EEG data) were singly ascertained in the US or UK through a proband affected by RE. We used a nested case-control design, multiple logistic regression, and generalized estimating equations to test the hypothesis of an association between RD and seizure variables or antiepileptic drug treatment in RE; we also assessed an association between EEG focal sharp waves and RD in siblings. RESULTS: Reading disability was reported in 42% of probands and 22% of siblings. Among probands, RD was strongly associated with a history of SSD (OR: 9.64, 95% CI: 2.45-37.21), ADHD symptoms (OR: 10.31, 95% CI: 2.15-49.44), and male sex (OR: 3.62, 95% CI: 1.11-11.75) but not with seizure or treatment variables. Among siblings, RD was independently associated only with SSD (OR: 4.30, 95% CI: 1.42-13.0) and not with the presence of interictal EEG focal sharp waves. SIGNIFICANCE: The principal risk factors for RD in RE are SSD, ADHD, and male sex, the same risk factors as for RD without epilepsy. Seizure or treatment variables do not appear to be important risk factors for RD in probands with RE, and there was no evidence to support interictal EEG focal sharp waves as a risk factor for RD in siblings. Future studies should focus on the precise neuropsychological characterization of RD in families with RE and on the effectiveness of standard oral-language and reading interventions.
OBJECTIVE: The high prevalence and impact of neurodevelopmental comorbidities in childhood epilepsy are now well known, as are the increased risks and familial aggregation of reading disability (RD) and speech sound disorder (SSD) in rolandic epilepsy (RE). The risk factors for RD in the general population include male sex, SSD, and ADHD, but it is not known if these are the same in RE or whether there is a contributory role of seizure and treatment-related variables. METHODS: An observational study of 108 probands with RE (age range: 3.6-22 years) and their 159 siblings (age range: 1-29 years; 83 with EEG data) were singly ascertained in the US or UK through a proband affected by RE. We used a nested case-control design, multiple logistic regression, and generalized estimating equations to test the hypothesis of an association between RD and seizure variables or antiepileptic drug treatment in RE; we also assessed an association between EEG focal sharp waves and RD in siblings. RESULTS: Reading disability was reported in 42% of probands and 22% of siblings. Among probands, RD was strongly associated with a history of SSD (OR: 9.64, 95% CI: 2.45-37.21), ADHD symptoms (OR: 10.31, 95% CI: 2.15-49.44), and male sex (OR: 3.62, 95% CI: 1.11-11.75) but not with seizure or treatment variables. Among siblings, RD was independently associated only with SSD (OR: 4.30, 95% CI: 1.42-13.0) and not with the presence of interictal EEG focal sharp waves. SIGNIFICANCE: The principal risk factors for RD in RE are SSD, ADHD, and male sex, the same risk factors as for RD without epilepsy. Seizure or treatment variables do not appear to be important risk factors for RD in probands with RE, and there was no evidence to support interictal EEG focal sharp waves as a risk factor for RD in siblings. Future studies should focus on the precise neuropsychological characterization of RD in families with RE and on the effectiveness of standard oral-language and reading interventions.
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