Risk factors for reading disability in families with rolandic epilepsy

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 RE probands (age range 3.6–22 years) and their 159 siblings (age range 1–29 years; 83 with EEG data) singly ascertained in the US or UK through an affected RE proband. We used a nested case-control design, multiple logistic regression and generalized estimating equations to test the hypothesis of 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 RD 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 RE probands, 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 characterisation of RD in RE families, and on the effectiveness of standard oral-language and reading interventions.

A microRNA‐328 binding site inPAX6is associated with centrotemporal spikes of rolandic epilepsy

“…Seizures occur almost exclusively in sleep at the transition between rapid eye movement (REM) and non‐REM cycles, and may secondarily generalize. Approximately 30% of RE patients have an antecedent history of speech sound disorder (SSD, developmentally inappropriate errors in speech production that limit intelligibility, usually caused by a mild speech dyspraxia), and 42% meet ICD‐10 criteria for reading disorder . RE clinically overlaps with more severe epilepsy syndromes in the “epilepsy‐aphasia spectrum” such as atypical benign partial epilepsy (ABPE, OMIM #604827), continuous spikes in slow wave sleep (CSWSS), and Landau–Kleffner syndromes (LKS, OMIM #245570) as well as atypical forms that all share the common electroencephalographic (EEG) signature of centrotemporal spikes (CTS).…”

Decreased functional connectivity within a language subnetwork in benign epilepsy with centrotemporal spikes

“…2 Behavioral and cognitive impairments are increasingly recognized in BECTS. For example, we found that 67% of children with BECTS have attention impairments, 54% have language impairments, and 42% have reading disability; [3][4][5] our meta-analyses identified moderate effect sizes for reading and language impairments-Cohen's d = 0.7. 3 Speech dyspraxia 6…”

Core Health Outcomes in Childhood Epilepsy (CHOICE): Development of a core outcome set using systematic review methods and a Delphi survey consensus

“…RE is the most common childhood epilepsy, affecting 17%‐25% of children with epilepsy in the 5‐ to 14‐year age range . The syndrome is associated with specific neuropsychological impairments such as in speech and language, literacy, and attention as well as motor coordination deficits but is not associated with autism spectrum disorder or intellectual disability . Our study focused on children of school age (5‐16 years old) with RE, and our protocol is published .…”

“…[17][18][19] The syndrome is associated with specific neuropsychological impairments such as in speech and language, literacy, and attention as well as motor coordination deficits but is not associated with autism spectrum disorder or intellectual disability. [20][21][22] Our study focused on children of school age (5-16 years old) with RE, and our protocol is published. 23 Specifically, our objectives were to review published research to identify outcomes reported in research and to seek consensus on which outcomes were perceived to be most important to measure in research.…”