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Purpose: Behavioral genetic studies of speech fluency have focused on participants who present with clinical stuttering. Knowledge about genetic influences on the development and regulation of normal speech fluency is limited. The primary aims of this study were to identify the heritability of stuttering and high nonfluency and to assess the relative contribution of genetic and environmental factors to the correlation between these 2 fluency phenotypes. Method: Information on 6 specific speech fluency behaviors was obtained by maternal report for over 10,500 5-year-old Dutch twin pairs. Results: Genetic analyses revealed that both fluency phenotypes were moderately heritable, with heritability estimates of 42% and 45% for probable stuttering and high nonfluency, respectively. Shared environmental factors were also significant, explaining 44% of the individual differences in probable stuttering and 32% in nonfluency. For both phenotypes, the magnitude of the genetic and environmental influences did not differ between boys and girls. The overlap between the 2 traits was substantial (tetrachoric correlation was .72). A bivariate genetic analysis showed that this overlap was due to both overlapping genetic and environmental influences. Conclusions: These findings provide a foundation to justify further studies in normal fluency control, a scientific area that has received little cross-disciplinary attention.
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PURPOSE: Using a sample of 20,445 Dutch twins, this study examined the relationship between speech fluency and attentional regulation in children. A secondary objective was to identify etiological overlap between nonfluency and poor attention using fluency-discordant twin pairs., METHOD: Three fluency groups were created at age 5 using a parent questionnaire: (a) probable stuttering (PS; N=826; 4.0%), highly nonfluent (HNF; N=547; 2.7%), and typically fluent (TF; N=19,072; 93%). Multiple scales assessing attention, primarily self-regulation/inhibition, were obtained from both parents when children were ages 5 and 7 and from teachers when children were age 7., RESULTS: When compared with the TF controls, both the PS and HNF children received higher (i.e., more problematic) scores on parental attention ratings at both ages (p<.002). Effect sizes were moderate for both groups. Teacher and parent ratings were generally comparable. The discordant co-twin analyses suggested that nonfluency and attention were influenced by potentially overlapping genetic and shared environmental factors., CONCLUSIONS: The liability to express both high nonfluency and problems with self-regulation/inhibition may arise from a common set of pathogenic mechanisms. This supports emerging models of stuttering, which propose that poor fluency may be part of a broader network of impaired self-regulatory processes.
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Purpose: To examine neural response to spoken and printed language in children with speech sound errors (SSE). Method: Functional magnetic resonance imaging was used to compare processing of auditorily and visually presented words and pseudowords in 17 children with SSE, ages 8; 6[years; months] through 10; 10, with 17 matched controls. Results: When processing spoken words and pseudowords, the SSE group showed less activation than typically speaking controls in left middle temporal gyrus. They also showed greater activation than controls in several cortical and subcortical regions (e. g., left superior temporal gyrus, globus pallidus, insula, fusiform, and bilateral parietal regions). In response to printed words and pseudowords, children with SSE had greater activation than controls in regions including bilateral fusiform and anterior cingulate. Some differences were found in both speech and print processing that that may be associated with children with SSE failing to show common patterns of task-induced deactivation and/or attentional resource allocation. Conclusion: Compared with controls, children with SSE appear to rely more on several dorsal speech perception regions and less on ventral speech perception regions. When processing print, numerous regions were observed to be activated more for the SSE group than for controls.
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The purpose of the study was to identify structural brain differences in school-age children with residual speech sound errors. Voxel based morphometry was used to compare gray and white matter volumes for 23 children with speech sound errors, ages 8;6-11;11, and 54 typically speaking children matched on age, oral language, and IQ. We hypothesized that regions associated with production and perception of speech sounds would differ between groups. Results indicated greater gray matter volumes for the speech sound error group relative to typically speaking controls in bilateral superior temporal gyrus. There was greater white matter volume in the corpus callosum for the speech sound error group, but less white matter volume in right lateral occipital gyrus. Results may indicate delays in neuronal pruning in critical speech regions or differences in the development of networks for speech perception and production. Copyright © 2013 Elsevier Inc. All rights reserved.
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Potocki-Lupski syndrome (PTLS; OMIM 610883) is a genomic syndrome that arises as a result of a duplication of 17p11.2. Although numerous cases of individuals with PTLS have been presented in the literature, its behavioral characterization is still ambiguous. We present a male child with a de novo dup(17)(p11.2p11.2) and he does not possess any autistic features, but is characterized by severe speech and language impairment. In the context of the analyses of this patient and other cases of PTLS, we argue that the central feature of the syndrome appears to be related to diminished speech and language capacity, rather than the specific social deficits central to autism. © 2011.
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