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High risk of reading disability and speech sound disorder in rolandic epilepsy families: case-control study.

ABSTRACT: 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.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.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).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.

SUBMITTER: Clarke T

PROVIDER: S-EPMC2150742 | biostudies-literature | 2007 Dec

REPOSITORIES: biostudies-literature

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High risk of reading disability and speech sound disorder in rolandic epilepsy families: case-control study.

Clarke Tara T Strug Lisa J LJ Murphy Peregrine L PL Bali Bhavna B Carvalho Janessa J Foster Suzanne S Tremont Geoffrey G Gagnon Bernadine R BR Dorta Nelson N Pal Deb K DK

Epilepsia 20070910 12

<h4>Purpose</h4>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.<h4>Methods</h4>Unmatched case-control study with 55 stringently defined RE cases, 150 control ...[more]

PMID: 17850323

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Project description:BACKGROUND:Reading disability (RD) is a common neurodevelopmental disorder with genetic basis established in families segregating "pure" dyslexia. RD commonly occurs in neurodevelopmental disorders including Rolandic Epilepsy (RE), a complex genetic disorder. We performed genomewide linkage analysis of RD in RE families, testing the hypotheses that RD in RE families is genetically heterogenenous to pure dyslexia, and shares genetic influences with other sub-phenotypes of RE. METHODS:We initially performed genome-wide linkage analysis using 1000 STR markers in 38 US families ascertained through a RE proband; most of these families were multiplex for RD. We analyzed the data by two-point and multipoint parametric LOD score methods. We then confirmed the linkage evidence in a second US dataset of 20 RE families. We also resequenced the SEMA3C gene at the 7q21 linkage locus in members of one multiplex RE/RD pedigree and the DISC1 gene in affected pedigrees at the 1q42 locus. RESULTS:In the discovery dataset there was suggestive evidence of linkage for RD to chromosome 7q21 (two-point LOD score 3.05, multipoint LOD 3.08) and at 1q42 (two-point LOD 2.87, multipoint LOD 3.03). Much of the linkage evidence at 7q21 derived from families of French-Canadian origin, whereas the linkage evidence at 1q42 was well distributed across all the families. There was little evidence for linkage at known dyslexia loci. Combining the discovery and confirmation datasets increased the evidence at 1q42 (two-point LOD?=?3.49, multipoint HLOD?=?4.70), but decreased evidence at 7q21 (two-point LOD?=?2.28, multipoint HLOD ?=?1.81), possibly because the replication sample did not have French Canadian representation. DISCUSSION:Reading disability in rolandic epilepsy has a genetic basis and may be influenced by loci at 1q42 and, in some populations, at 7q21; there is little evidence of a role for known DYX loci discovered in "pure" dyslexia pedigrees. 1q42 and 7q21 are candidate novel dyslexia loci.

Project description:PurposeLearning to read is a complex, multifaceted process that relies on several speech and language-related subskills. Individual differences in word reading outcomes are indicated among children with inaccurate speech sound productions, with some of these children developing later reading difficulties. There are inconsistent reports as to whether phonological deficits and/or weaknesses in oral language explain these subsequent reading difficulties. Thus, it remains unclear how variability in speech production accuracy in early childhood may impact reading development. Therefore, the present longitudinal study seeks to clarify the relation between speech sound production accuracy in kindergarten and subsequent reading outcomes with a focus on additional potential mediating factors.MethodSpeech accuracy, core preliteracy skills (phonological awareness, rapid naming, and letter-name knowledge), and additional potential mediators (phonological memory and oral language abilities) were characterized at the start of formal reading instruction. Word reading, decoding, reading fluency, and comprehension were assessed at the end of second grade. Mediation analyses were conducted to examine factors that mediate the relation between speech accuracy in kindergarten and subsequent reading outcomes.ResultsInitial associations between early speech sound production accuracy and subsequent reading outcomes were indicated; however, mediation effects of preliteracy skills (phonological awareness and letter-name knowledge) were identified for word reading, decoding, and reading fluency outcomes. For reading comprehension, mediation effects of preliteracy and vocabulary skills were observed.ConclusionsThe relation between speech sound production accuracy and subsequent word reading, decoding, reading fluency, and comprehension was observed to be mediated by preliteracy skills, specifically phonological awareness and letter-name knowledge. For reading comprehension only, vocabulary knowledge were of additional importance.Supplemental materialhttps://doi.org/10.23641/asha.23671491.

Project description:Objective: To study the single nucleotide polymorphism rs662702 of ELP4-PAX6 in patients with idiopathic rolandic epilepsy syndromes (IRES) in China and explore the relationship between the distribution of rolandic spike sources and the single nucleotide polymorphism rs662702 in ELP4-PAX6. Methods: First, clinical information was obtained from patients diagnosed with IRES. Next, the single nucleotide polymorphism rs662702 of ELP4 was analyzed by using the Sanger method. Resting-state magnetoencephalography data were collected from 17 patients. We analyzed the epileptic spike sources using the single equivalent current dipole (SECD) model and determined the spike distributions across the whole brain. Finally, Fisher's test was performed to assess the correlation between the single nucleotide polymorphism rs662702 of ELP4-PAX6 and rolandic spike sources. Results: ELP4 rs662702 T alleles were found in 10.7% of IRES patients and occurred four times more frequently in these patients than in the healthy controls. TT homozygosity was found in one IRES patient (1.3%), while no TT homozygosity was found in the healthy control group. The IRES rolandic spike sources were unilateral in sixteen patients (94.1%) and were mainly located in the anterior central gyrus (58.8%). The spike source of patients without the ELP4 rs662702 T allele was correlated with the central region (p < 0.05). The rolandic spikes sources were significant correlated with the non-central gyrus (frontal and temporal lobes) in patients with the ELP4 rs662702 T allele (p < 0.05). Conclusion: The rolandic spike sources of the IRES patients with the ELP4 rs662702 T allele were significantly associated with the non-central gyrus, including the frontal and temporal lobes. Our study confirmed for the first time in vivo that ELP4 rs662702 T allele overexpression is correlated with the rolandic spike distribution in patients with IRES and provides important insights into how genetic abnormalities can lead to brain dysfunction and into the precise targeting of abnormal discharge sources in the brain.

Dataset Information

High risk of reading disability and speech sound disorder in rolandic epilepsy families: case-control study.

Publications

High risk of reading disability and speech sound disorder in rolandic epilepsy families: case-control study.

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