Gene × Environment interactions in speech sound disorder predict language and preliteracy outcomes / Lauren M. MCGRATH in Development and Psychopathology, 19-4 (Fall 2007)  

Public ISBD [article]  inDevelopment and Psychopathology > 19-4 (Fall 2007) . - p.1047-1072 Titre : Gene × Environment interactions in speech sound disorder predict language and preliteracy outcomes Type de document : texte imprimé Auteurs : Lauren M. MCGRATH, Auteur ; Shelley DAVIS, Auteur ; Bruce F. PENNINGTON, Auteur ; Erik G. WILLCUTT, Auteur ; Richard BOADA, Auteur ; Lawrence D. SHRIBERG, Auteur Année de publication : 2007 Article en page(s) : p.1047-1072 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Few studies have investigated the role of gene × environment interactions (G × E) in speech, language, and literacy disorders. Currently, there are two theoretical models, the diathesis–stress model and the bioecological model, that make opposite predictions about the expected direction of G × E, because environmental risk factors may either strengthen or weaken the effect of genes on phenotypes. The purpose of the current study was to test for G × E at two speech sound disorder and reading disability linkage peaks using a sib-pair linkage design and continuous measures of socioeconomic status, home language/literacy environment, and number of ear infections. The interactions were tested using composite speech, language, and preliteracy phenotypes and previously identified linkage peaks on 6p22 and 15q21. Results showed five G × E at both the 6p22 and 15q21 locations across several phenotypes and environmental measures. Four of the five interactions were consistent with the bioecological model of G × E. Each of these four interactions involved environmental measures of the home language/literacy environment. The only interaction that was consistent with the diathesis–stress model was one involving the number of ear infections as the environmental risk variable. The direction of these interactions and possible interpretations are explored in the discussion. En ligne : http://dx.doi.org/10.1017/s0954579407000533 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=182 [article] Gene × Environment interactions in speech sound disorder predict language and preliteracy outcomes [texte imprimé] / Lauren M. MCGRATH, Auteur ; Shelley DAVIS, Auteur ; Bruce F. PENNINGTON, Auteur ; Erik G. WILLCUTT, Auteur ; Richard BOADA, Auteur ; Lawrence D. SHRIBERG, Auteur . - 2007 . - p.1047-1072. Langues : Anglais (eng) in Development and Psychopathology > 19-4 (Fall 2007) . - p.1047-1072 Index. décimale : PER Périodiques Résumé : Few studies have investigated the role of gene × environment interactions (G × E) in speech, language, and literacy disorders. Currently, there are two theoretical models, the diathesis–stress model and the bioecological model, that make opposite predictions about the expected direction of G × E, because environmental risk factors may either strengthen or weaken the effect of genes on phenotypes. The purpose of the current study was to test for G × E at two speech sound disorder and reading disability linkage peaks using a sib-pair linkage design and continuous measures of socioeconomic status, home language/literacy environment, and number of ear infections. The interactions were tested using composite speech, language, and preliteracy phenotypes and previously identified linkage peaks on 6p22 and 15q21. Results showed five G × E at both the 6p22 and 15q21 locations across several phenotypes and environmental measures. Four of the five interactions were consistent with the bioecological model of G × E. Each of these four interactions involved environmental measures of the home language/literacy environment. The only interaction that was consistent with the diathesis–stress model was one involving the number of ear infections as the environmental risk variable. The direction of these interactions and possible interpretations are explored in the discussion. En ligne : http://dx.doi.org/10.1017/s0954579407000533 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=182

The Hypothesis of Apraxia of Speech in Children with Autism Spectrum Disorder / Lawrence D. SHRIBERG in Journal of Autism and Developmental Disorders, 41-4 (April 2011)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 41-4 (April 2011) . - p.405-426 Titre : The Hypothesis of Apraxia of Speech in Children with Autism Spectrum Disorder Type de document : texte imprimé Auteurs : Lawrence D. SHRIBERG, Auteur ; Rhea PAUL, Auteur ; Lois M. BLACK, Auteur ; Jan P.H. VAN SANTEN, Auteur Année de publication : 2011 Article en page(s) : p.405-426 Langues : Anglais (eng) Mots-clés : Apraxia  Dyspraxia  Motor speech disorder  Speech sound disorder Index. décimale : PER Périodiques Résumé : In a sample of 46 children aged 4–7 years with Autism Spectrum Disorder (ASD) and intelligible speech, there was no statistical support for the hypothesis of concomitant Childhood Apraxia of Speech (CAS). Perceptual and acoustic measures of participants’ speech, prosody, and voice were compared with data from 40 typically-developing children, 13 preschool children with Speech Delay, and 15 participants aged 5–49 years with CAS in neurogenetic disorders. Speech Delay and Speech Errors, respectively, were modestly and substantially more prevalent in participants with ASD than reported population estimates. Double dissociations in speech, prosody, and voice impairments in ASD were interpreted as consistent with a speech attunement framework, rather than with the motor speech impairments that define CAS. En ligne : http://dx.doi.org/10.1007/s10803-010-1117-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=119 [article] The Hypothesis of Apraxia of Speech in Children with Autism Spectrum Disorder [texte imprimé] / Lawrence D. SHRIBERG, Auteur ; Rhea PAUL, Auteur ; Lois M. BLACK, Auteur ; Jan P.H. VAN SANTEN, Auteur . - 2011 . - p.405-426. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 41-4 (April 2011) . - p.405-426 Mots-clés : Apraxia  Dyspraxia  Motor speech disorder  Speech sound disorder Index. décimale : PER Périodiques Résumé : In a sample of 46 children aged 4–7 years with Autism Spectrum Disorder (ASD) and intelligible speech, there was no statistical support for the hypothesis of concomitant Childhood Apraxia of Speech (CAS). Perceptual and acoustic measures of participants’ speech, prosody, and voice were compared with data from 40 typically-developing children, 13 preschool children with Speech Delay, and 15 participants aged 5–49 years with CAS in neurogenetic disorders. Speech Delay and Speech Errors, respectively, were modestly and substantially more prevalent in participants with ASD than reported population estimates. Double dissociations in speech, prosody, and voice impairments in ASD were interpreted as consistent with a speech attunement framework, rather than with the motor speech impairments that define CAS. En ligne : http://dx.doi.org/10.1007/s10803-010-1117-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=119

Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech / Elizabeth A. WORTHEY in Journal of Neurodevelopmental Disorders, 5-1 (December 2013)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 5-1 (December 2013) . - p.29 Titre : Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech Type de document : texte imprimé Auteurs : Elizabeth A. WORTHEY, Auteur ; Gordana RACA, Auteur ; J.J. LAFFIN, Auteur ; Brandon M. WILK, Auteur ; Jeremy M. HARRIS, Auteur ; Kathy J. JAKIELSKI, Auteur ; David P. DIMMOCK, Auteur ; Edythe A. STRAND, Auteur ; Lawrence D. SHRIBERG, Auteur Article en page(s) : p.29 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : BACKGROUND: Childhood apraxia of speech (CAS) is a rare, severe, persistent pediatric motor speech disorder with associated deficits in sensorimotor, cognitive, language, learning and affective processes. Among other neurogenetic origins, CAS is the disorder segregating with a mutation in FOXP2 in a widely studied, multigenerational London family. We report the first whole-exome sequencing (WES) findings from a cohort of 10 unrelated participants, ages 3 to 19 years, with well-characterized CAS. METHODS: As part of a larger study of children and youth with motor speech sound disorders, 32 participants were classified as positive for CAS on the basis of a behavioral classification marker using auditory-perceptual and acoustic methods that quantify the competence, precision and stability of a speaker's speech, prosody and voice. WES of 10 randomly selected participants was completed using the Illumina Genome Analyzer IIx Sequencing System. Image analysis, base calling, demultiplexing, read mapping, and variant calling were performed using Illumina software. Software developed in-house was used for variant annotation, prioritization and interpretation to identify those variants likely to be deleterious to neurodevelopmental substrates of speech-language development. RESULTS: Among potentially deleterious variants, clinically reportable findings of interest occurred on a total of five chromosomes (Chr3, Chr6, Chr7, Chr9 and Chr17), which included six genes either strongly associated with CAS (FOXP1 and CNTNAP2) or associated with disorders with phenotypes overlapping CAS (ATP13A4, CNTNAP1, KIAA0319 and SETX). A total of 8 (80%) of the 10 participants had clinically reportable variants in one or two of the six genes, with variants in ATP13A4, KIAA0319 and CNTNAP2 being the most prevalent. CONCLUSIONS: Similar to the results reported in emerging WES studies of other complex neurodevelopmental disorders, our findings from this first WES study of CAS are interpreted as support for heterogeneous genetic origins of this pediatric motor speech disorder with multiple genes, pathways and complex interactions. We also submit that our findings illustrate the potential use of WES for both gene identification and case-by-case clinical diagnostics in pediatric motor speech disorders. En ligne : http://dx.doi.org/10.1186/1866-1955-5-29 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=345 [article] Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech [texte imprimé] / Elizabeth A. WORTHEY, Auteur ; Gordana RACA, Auteur ; J.J. LAFFIN, Auteur ; Brandon M. WILK, Auteur ; Jeremy M. HARRIS, Auteur ; Kathy J. JAKIELSKI, Auteur ; David P. DIMMOCK, Auteur ; Edythe A. STRAND, Auteur ; Lawrence D. SHRIBERG, Auteur . - p.29. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 5-1 (December 2013) . - p.29 Index. décimale : PER Périodiques Résumé : BACKGROUND: Childhood apraxia of speech (CAS) is a rare, severe, persistent pediatric motor speech disorder with associated deficits in sensorimotor, cognitive, language, learning and affective processes. Among other neurogenetic origins, CAS is the disorder segregating with a mutation in FOXP2 in a widely studied, multigenerational London family. We report the first whole-exome sequencing (WES) findings from a cohort of 10 unrelated participants, ages 3 to 19 years, with well-characterized CAS. METHODS: As part of a larger study of children and youth with motor speech sound disorders, 32 participants were classified as positive for CAS on the basis of a behavioral classification marker using auditory-perceptual and acoustic methods that quantify the competence, precision and stability of a speaker's speech, prosody and voice. WES of 10 randomly selected participants was completed using the Illumina Genome Analyzer IIx Sequencing System. Image analysis, base calling, demultiplexing, read mapping, and variant calling were performed using Illumina software. Software developed in-house was used for variant annotation, prioritization and interpretation to identify those variants likely to be deleterious to neurodevelopmental substrates of speech-language development. RESULTS: Among potentially deleterious variants, clinically reportable findings of interest occurred on a total of five chromosomes (Chr3, Chr6, Chr7, Chr9 and Chr17), which included six genes either strongly associated with CAS (FOXP1 and CNTNAP2) or associated with disorders with phenotypes overlapping CAS (ATP13A4, CNTNAP1, KIAA0319 and SETX). A total of 8 (80%) of the 10 participants had clinically reportable variants in one or two of the six genes, with variants in ATP13A4, KIAA0319 and CNTNAP2 being the most prevalent. CONCLUSIONS: Similar to the results reported in emerging WES studies of other complex neurodevelopmental disorders, our findings from this first WES study of CAS are interpreted as support for heterogeneous genetic origins of this pediatric motor speech disorder with multiple genes, pathways and complex interactions. We also submit that our findings illustrate the potential use of WES for both gene identification and case-by-case clinical diagnostics in pediatric motor speech disorders. En ligne : http://dx.doi.org/10.1186/1866-1955-5-29 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=345

---

1 (1 - 3 / 3) Par page : 25 50 100 200