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Auteur B. F. PENNINGTON |
Documents disponibles écrits par cet auteur (2)
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Investigating the effects of copy number variants on reading and language performance / A. GIALLUISI in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)
[article]
Titre : Investigating the effects of copy number variants on reading and language performance Type de document : Texte imprimé et/ou numérique Auteurs : A. GIALLUISI, Auteur ; A. VISCONTI, Auteur ; E. G. WILLCUTT, Auteur ; S. D. SMITH, Auteur ; B. F. PENNINGTON, Auteur ; M. FALCHI, Auteur ; J. C. DEFRIES, Auteur ; R. K. OLSON, Auteur ; C. FRANCKS, Auteur ; S. E. FISHER, Auteur Article en page(s) : p.17 Langues : Anglais (eng) Mots-clés : Cldrc Copy number variants Developmental dyslexia Family-based GWAS Language Meta-analysis Reading Reading disability Index. décimale : PER Périodiques Résumé : BACKGROUND: Reading and language skills have overlapping genetic bases, most of which are still unknown. Part of the missing heritability may be caused by copy number variants (CNVs). METHODS: In a dataset of children recruited for a history of reading disability (RD, also known as dyslexia) or attention deficit hyperactivity disorder (ADHD) and their siblings, we investigated the effects of CNVs on reading and language performance. First, we called CNVs with PennCNV using signal intensity data from Illumina OmniExpress arrays (~723,000 probes). Then, we computed the correlation between measures of CNV genomic burden and the first principal component (PC) score derived from several continuous reading and language traits, both before and after adjustment for performance IQ. Finally, we screened the genome, probe-by-probe, for association with the PC scores, through two complementary analyses: we tested a binary CNV state assigned for the location of each probe (i.e., CNV+ or CNV-), and we analyzed continuous probe intensity data using FamCNV. RESULTS: No significant correlation was found between measures of CNV burden and PC scores, and no genome-wide significant associations were detected in probe-by-probe screening. Nominally significant associations were detected (p~10(-2)-10(-3)) within CNTN4 (contactin 4) and CTNNA3 (catenin alpha 3). These genes encode cell adhesion molecules with a likely role in neuronal development, and they have been previously implicated in autism and other neurodevelopmental disorders. A further, targeted assessment of candidate CNV regions revealed associations with the PC score (p~0.026-0.045) within CHRNA7 (cholinergic nicotinic receptor alpha 7), which encodes a ligand-gated ion channel and has also been implicated in neurodevelopmental conditions and language impairment. FamCNV analysis detected a region of association (p~10(-2)-10(-4)) within a frequent deletion ~6 kb downstream of ZNF737 (zinc finger protein 737, uncharacterized protein), which was also observed in the association analysis using CNV calls. CONCLUSIONS: These data suggest that CNVs do not underlie a substantial proportion of variance in reading and language skills. Analysis of additional, larger datasets is warranted to further assess the potential effects that we found and to increase the power to detect CNV effects on reading and language. En ligne : http://dx.doi.org/10.1186/s11689-016-9147-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348
in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.17[article] Investigating the effects of copy number variants on reading and language performance [Texte imprimé et/ou numérique] / A. GIALLUISI, Auteur ; A. VISCONTI, Auteur ; E. G. WILLCUTT, Auteur ; S. D. SMITH, Auteur ; B. F. PENNINGTON, Auteur ; M. FALCHI, Auteur ; J. C. DEFRIES, Auteur ; R. K. OLSON, Auteur ; C. FRANCKS, Auteur ; S. E. FISHER, Auteur . - p.17.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.17
Mots-clés : Cldrc Copy number variants Developmental dyslexia Family-based GWAS Language Meta-analysis Reading Reading disability Index. décimale : PER Périodiques Résumé : BACKGROUND: Reading and language skills have overlapping genetic bases, most of which are still unknown. Part of the missing heritability may be caused by copy number variants (CNVs). METHODS: In a dataset of children recruited for a history of reading disability (RD, also known as dyslexia) or attention deficit hyperactivity disorder (ADHD) and their siblings, we investigated the effects of CNVs on reading and language performance. First, we called CNVs with PennCNV using signal intensity data from Illumina OmniExpress arrays (~723,000 probes). Then, we computed the correlation between measures of CNV genomic burden and the first principal component (PC) score derived from several continuous reading and language traits, both before and after adjustment for performance IQ. Finally, we screened the genome, probe-by-probe, for association with the PC scores, through two complementary analyses: we tested a binary CNV state assigned for the location of each probe (i.e., CNV+ or CNV-), and we analyzed continuous probe intensity data using FamCNV. RESULTS: No significant correlation was found between measures of CNV burden and PC scores, and no genome-wide significant associations were detected in probe-by-probe screening. Nominally significant associations were detected (p~10(-2)-10(-3)) within CNTN4 (contactin 4) and CTNNA3 (catenin alpha 3). These genes encode cell adhesion molecules with a likely role in neuronal development, and they have been previously implicated in autism and other neurodevelopmental disorders. A further, targeted assessment of candidate CNV regions revealed associations with the PC score (p~0.026-0.045) within CHRNA7 (cholinergic nicotinic receptor alpha 7), which encodes a ligand-gated ion channel and has also been implicated in neurodevelopmental conditions and language impairment. FamCNV analysis detected a region of association (p~10(-2)-10(-4)) within a frequent deletion ~6 kb downstream of ZNF737 (zinc finger protein 737, uncharacterized protein), which was also observed in the association analysis using CNV calls. CONCLUSIONS: These data suggest that CNVs do not underlie a substantial proportion of variance in reading and language skills. Analysis of additional, larger datasets is warranted to further assess the potential effects that we found and to increase the power to detect CNV effects on reading and language. En ligne : http://dx.doi.org/10.1186/s11689-016-9147-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 Verbal short-term memory deficits in Down syndrome: phonological, semantic, or both? / N. RAITANO LEE in Journal of Neurodevelopmental Disorders, 2-1 (March 2010)
[article]
Titre : Verbal short-term memory deficits in Down syndrome: phonological, semantic, or both? Type de document : Texte imprimé et/ou numérique Auteurs : N. RAITANO LEE, Auteur ; B. F. PENNINGTON, Auteur ; J. M. KEENAN, Auteur Article en page(s) : p.9-25 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The current study examined the phonological and semantic contributions to the verbal short-term memory (VSTM) deficit in Down syndrome (DS) by experimentally manipulating the phonological and semantic demands of VSTM tasks. The performance of 18 individuals with DS (ages 11-25) and 18 typically developing children (ages 3-10) matched pairwise on receptive vocabulary and gender was compared on four VSTM tasks, two tapping phonological VSTM (phonological similarity, nonword discrimination) and two tapping semantic VSTM (semantic category, semantic proactive interference). Group by condition interactions were found on the two phonological VSTM tasks (suggesting less sensitivity to the phonological qualities of words in DS), but not on the two semantic VSTM tasks. These findings suggest that a phonological weakness contributes to the VSTM deficit in DS. These results are discussed in relation to the DS neuropsychological and neuroanatomical phenotype. En ligne : http://dx.doi.org/10.1007/s11689-009-9029-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342
in Journal of Neurodevelopmental Disorders > 2-1 (March 2010) . - p.9-25[article] Verbal short-term memory deficits in Down syndrome: phonological, semantic, or both? [Texte imprimé et/ou numérique] / N. RAITANO LEE, Auteur ; B. F. PENNINGTON, Auteur ; J. M. KEENAN, Auteur . - p.9-25.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 2-1 (March 2010) . - p.9-25
Index. décimale : PER Périodiques Résumé : The current study examined the phonological and semantic contributions to the verbal short-term memory (VSTM) deficit in Down syndrome (DS) by experimentally manipulating the phonological and semantic demands of VSTM tasks. The performance of 18 individuals with DS (ages 11-25) and 18 typically developing children (ages 3-10) matched pairwise on receptive vocabulary and gender was compared on four VSTM tasks, two tapping phonological VSTM (phonological similarity, nonword discrimination) and two tapping semantic VSTM (semantic category, semantic proactive interference). Group by condition interactions were found on the two phonological VSTM tasks (suggesting less sensitivity to the phonological qualities of words in DS), but not on the two semantic VSTM tasks. These findings suggest that a phonological weakness contributes to the VSTM deficit in DS. These results are discussed in relation to the DS neuropsychological and neuroanatomical phenotype. En ligne : http://dx.doi.org/10.1007/s11689-009-9029-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342