SummaryPurpose-Associations between rolandic epilepsy (RE) with reading disability (RD) and speech sound disorder (SSD) have not been tested in a controlled study. We conducted a case-control study to determine whether (1) RD and SSD odds are higher in RE probands than controls and (2) an RE proband predicts a family member with RD or SSD, hence suggesting a shared genetic etiology for RE, RD, and SSD.Methods-Unmatched case-control study with 55 stringently defined RE cases, 150 controls in the same age range lacking a primary brain disorder diagnosis, and their siblings and parents. Odds ratios (OR) were calculated by multiple logistic regression, adjusted for sex and age, and for relatives, also adjusted for comorbidity of RD and SSD in the proband.Results-RD was strongly associated with RE after adjustment for sex and age: OR 5.78 (95% CI: 2. 86-11.69). An RE proband predicts RD in family members: OR 2.84 (95% CI: 1.38-5.84), but not independently of the RE proband's RD status: OR 1.30 (95% CI: 0.55-12.79). SSD was also comorbid with RE: adjusted OR 2.47 (95%CI: 1. 22-4.97). An RE proband predicts SSD in relatives, even after controlling for sex, age and proband SSD comorbidity: OR 4.44 (95% CI: 1.93-10.22).Conclusions-RE is strongly comorbid with RD and SSD. Both RD and SSD are likely to be genetically influenced and may contribute to the complex genetic etiology of the RE syndrome. Siblings of RE patients are at high risk of RD and SSD and both RE patients and their younger siblings should be screened early. KeywordsPhonologic disorder; Articulation disorder; Speech delay; Developmental dysphasia; Developmental dyslexia; Centrotemporal sharp waves; Complex genetic; Familial aggregation; Comorbidity; Cognitive deficit; Family study Address correspondence and reprint requests to Tara Clarke, Mailman School of Public Health, 722 West 168th Street, New York, NY 10032, U.S.A. E-mail: tc2226@columbia.edu. The study was conceived by DKP, LJS, BB and TC. DKP, BB, TC, PLM, JC, SF, GT, BRG, and ND designed the study. BB, TC, JC, SF, and DKP collected the data. TC, LJS, PLM and DKP analyzed the data. TC wrote the first draft. All authors contributed to redrafting. Conflict of Interest:The authors declare that they have no competing financial interests. Rolandic epilepsy (RE) is the most common epilepsy syndrome affecting children . It is a developmental epilepsy with a complex genetic inheritance that has yet to be elucidated (Bali et al., 2005). Centrotemporal spikes (CTS) are the electroencephalographic hallmark of RE. The association of RE or CTS with reading disability (RD) and language impairment has often been suggested (Staden et al., 1998;Vinayan et al., 2005), as has association with impairment in the development of speech motor control, also known as speech sound disorder (SSD) (Bladin, 1987;Doose, 1989;Lundberg et al., 2005;Park et al., 2005). Neither the association between RE and RD nor between RE and SSD has been rigorously tested in a case-control study, and thus association has not been unequivocally e...

SUMMARYWe report a three generation pedigree with 11 of 22 affected with a variant form of rolandic epilepsy, speech impairment, oromotor apraxia, and cognitive deficit. The core features comprised nocturnal rolandic seizures, interictal centrotemporal spike waves with early age of onset and late age of offset. The transmission of the phenotype was consistent with autosomal dominant inheritance, with variable expressivity but no evidence of anticipation. We found evidence that the seizure and speech traits may be dissociated. No abnormalities were found by cytogenetic analysis. Linkage analysis excluded loci at 11p, 15q, 16p12, and Xq22 for related phenotypes, suggesting genetic heterogeneity.

,d Purpose: This study aimed to test whether an approach to distinguishing errors arising in phonological processing from those arising in motor planning also predicts the extent to which repetition-based training can lead to improved production of difficult sound sequences. Method: Four individuals with acquired speech production impairment who produced consonant cluster errors involving deletion were examined using a repetition task. We compared the acoustic details of productions with deletion errors in target consonant clusters to singleton consonants. Changes in accuracy over the course of the study were also compared.Results: Two individuals produced deletion errors consistent with a phonological locus of the errors, and 2 individuals produced errors consistent with a motoric locus of the errors. The 2 individuals who made phonologically driven errors showed no change in performance on a repetition training task, whereas the 2 individuals with motoric errors improved in their production of both trained and untrained items. Conclusions:The results extend previous findings about a metric for identifying the source of sound production errors in individuals with both apraxia of speech and aphasia. In particular, this work may provide a tool for identifying predominant error types in individuals with complex deficits.