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34 recherche sur le mot-clé 'specific language impairment'




An investigation of NFXL1, a gene implicated in a study of specific language impairment / R. NUDEL in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)
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Titre : An investigation of NFXL1, a gene implicated in a study of specific language impairment Type de document : Texte imprimé et/ou numérique Auteurs : R. NUDEL, Auteur Article en page(s) : p.13 Langues : Anglais (eng) Mots-clés : Cerebellum Language disorder Nfxl1 Neurodevelopment Neurogenetics Specific language impairment Transcription factor Index. décimale : PER Périodiques Résumé : BACKGROUND: A recent study identified NFXL1 as a candidate gene for specific language impairment. The protein encoded by this gene is predicted to be a transcription factor based on domain similarities with NFX1, a repressor of HLA class II genes, which have themselves been implicated in specific language impairment. However, there is very little literature on the function of NFXL1. METHODS: This report describes a study of NFXL1 expression in several human tissues and an investigation of differential expression in several specific brain regions through quantitative PCR as well as a study of the protein's sub-cellular localization in HEK cells and SH-SY5Y cells through immunofluorescence. RESULTS: The NFXL1 transcript was found in all investigated tissues. In the brain, a high level of NFXL1 expression was found in the cerebellum. An analysis of the sub-cellular localization of the protein showed a cytoplasmic pattern in the investigated cells. CONCLUSIONS: The NFXL1 transcript was present in samples from different tissues; in the brain, a high expression level was found in a region implicated in some language-related pathologies. NFXL1 did not show nuclear localization, suggesting that, if it regulates transcription, certain conditions may be required for it to translocate to the nucleus. En ligne : http://dx.doi.org/10.1186/s11689-016-9146-9 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.13[article] An investigation of NFXL1, a gene implicated in a study of specific language impairment [Texte imprimé et/ou numérique] / R. NUDEL, Auteur . - p.13.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.13
Mots-clés : Cerebellum Language disorder Nfxl1 Neurodevelopment Neurogenetics Specific language impairment Transcription factor Index. décimale : PER Périodiques Résumé : BACKGROUND: A recent study identified NFXL1 as a candidate gene for specific language impairment. The protein encoded by this gene is predicted to be a transcription factor based on domain similarities with NFX1, a repressor of HLA class II genes, which have themselves been implicated in specific language impairment. However, there is very little literature on the function of NFXL1. METHODS: This report describes a study of NFXL1 expression in several human tissues and an investigation of differential expression in several specific brain regions through quantitative PCR as well as a study of the protein's sub-cellular localization in HEK cells and SH-SY5Y cells through immunofluorescence. RESULTS: The NFXL1 transcript was found in all investigated tissues. In the brain, a high level of NFXL1 expression was found in the cerebellum. An analysis of the sub-cellular localization of the protein showed a cytoplasmic pattern in the investigated cells. CONCLUSIONS: The NFXL1 transcript was present in samples from different tissues; in the brain, a high expression level was found in a region implicated in some language-related pathologies. NFXL1 did not show nuclear localization, suggesting that, if it regulates transcription, certain conditions may be required for it to translocate to the nucleus. En ligne : http://dx.doi.org/10.1186/s11689-016-9146-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 Attention during social interaction in children with autism: Comparison to specific language impairment, typical development, and links to social cognition / Mary HANLEY in Research in Autism Spectrum Disorders, 8-7 (July 2014)
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Titre : Attention during social interaction in children with autism: Comparison to specific language impairment, typical development, and links to social cognition Type de document : Texte imprimé et/ou numérique Auteurs : Mary HANLEY, Auteur ; Deborah M. RIBY, Auteur ; Teresa MCCORMACK, Auteur ; Clare CARTY, Auteur ; Lisa COYLE, Auteur ; Naomi CROZIER, Auteur ; Johanna ROBINSON, Auteur ; Martin MCPHILLIPS, Auteur Article en page(s) : p.908-924 Langues : Anglais (eng) Mots-clés : Autism Specific language impairment Eye-tracking Social interaction Implicit mentalising Index. décimale : PER Périodiques Résumé : Abstract Eye-tracking studies have shown how people with autism spend significantly less time looking at socially relevant information on-screen compared to those developing typically. This has been suggested to impact on the development of socio-cognitive skills in autism. We present novel evidence of how attention atypicalities in children with autism extend to real-life interaction, in comparison to typically developing (TD) children and children with specific language impairment (SLI). We explored the allocation of attention during social interaction with an interlocutor, and how aspects of attention (awareness checking) related to traditional measures of social cognition (false belief attribution). We found divergent attention allocation patterns across the groups in relation to social cognition ability. Even though children with autism and SLI performed similarly on the socio-cognitive tasks, there were syndrome-specific atypicalities of their attention patterns. Children with SLI were most similar to TD children in terms of prioritising attention to socially pertinent information (eyes, face, awareness checking). Children with autism showed reduced attention to the eyes and face, and slower awareness checking. This study provides unique and timely insight into real-world social gaze (a)typicality in autism, SLI and typical development, its relationship to socio-cognitive ability, and raises important issues for intervention. En ligne : http://dx.doi.org/10.1016/j.rasd.2014.03.020 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=233
in Research in Autism Spectrum Disorders > 8-7 (July 2014) . - p.908-924[article] Attention during social interaction in children with autism: Comparison to specific language impairment, typical development, and links to social cognition [Texte imprimé et/ou numérique] / Mary HANLEY, Auteur ; Deborah M. RIBY, Auteur ; Teresa MCCORMACK, Auteur ; Clare CARTY, Auteur ; Lisa COYLE, Auteur ; Naomi CROZIER, Auteur ; Johanna ROBINSON, Auteur ; Martin MCPHILLIPS, Auteur . - p.908-924.
Langues : Anglais (eng)
in Research in Autism Spectrum Disorders > 8-7 (July 2014) . - p.908-924
Mots-clés : Autism Specific language impairment Eye-tracking Social interaction Implicit mentalising Index. décimale : PER Périodiques Résumé : Abstract Eye-tracking studies have shown how people with autism spend significantly less time looking at socially relevant information on-screen compared to those developing typically. This has been suggested to impact on the development of socio-cognitive skills in autism. We present novel evidence of how attention atypicalities in children with autism extend to real-life interaction, in comparison to typically developing (TD) children and children with specific language impairment (SLI). We explored the allocation of attention during social interaction with an interlocutor, and how aspects of attention (awareness checking) related to traditional measures of social cognition (false belief attribution). We found divergent attention allocation patterns across the groups in relation to social cognition ability. Even though children with autism and SLI performed similarly on the socio-cognitive tasks, there were syndrome-specific atypicalities of their attention patterns. Children with SLI were most similar to TD children in terms of prioritising attention to socially pertinent information (eyes, face, awareness checking). Children with autism showed reduced attention to the eyes and face, and slower awareness checking. This study provides unique and timely insight into real-world social gaze (a)typicality in autism, SLI and typical development, its relationship to socio-cognitive ability, and raises important issues for intervention. En ligne : http://dx.doi.org/10.1016/j.rasd.2014.03.020 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=233 Atypical audiovisual word processing in school-age children with a history of specific language impairment: an event-related potential study / N. KAGANOVICH in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)
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Titre : Atypical audiovisual word processing in school-age children with a history of specific language impairment: an event-related potential study Type de document : Texte imprimé et/ou numérique Auteurs : N. KAGANOVICH, Auteur ; J. SCHUMAKER, Auteur ; C. ROWLAND, Auteur Article en page(s) : p.33 Langues : Anglais (eng) Mots-clés : Audiovisual matching Event-related potentials Lexical processing Specific language impairment Speech-in-noise perception Index. décimale : PER Périodiques Résumé : BACKGROUND: Visual speech cues influence different aspects of language acquisition. However, whether developmental language disorders may be associated with atypical processing of visual speech is unknown. In this study, we used behavioral and ERP measures to determine whether children with a history of SLI (H-SLI) differ from their age-matched typically developing (TD) peers in the ability to match auditory words with corresponding silent visual articulations. METHODS: Nineteen 7-13-year-old H-SLI children and 19 age-matched TD children participated in the study. Children first heard a word and then saw a speaker silently articulating a word. In half of trials, the articulated word matched the auditory word (congruent trials), while in another half, it did not (incongruent trials). Children specified whether the auditory and the articulated words matched. We examined ERPs elicited by the onset of visual stimuli (visual P1, N1, and P2) as well as ERPs elicited by the articulatory movements themselves-namely, N400 to incongruent articulations and late positive complex (LPC) to congruent articulations. We also examined whether ERP measures of visual speech processing could predict (1) children's linguistic skills and (2) the use of visual speech cues when listening to speech-in-noise (SIN). RESULTS: H-SLI children were less accurate in matching auditory words with visual articulations. They had a significantly reduced P1 to the talker's face and a smaller N400 to incongruent articulations. In contrast, congruent articulations elicited LPCs of similar amplitude in both groups of children. The P1 and N400 amplitude was significantly correlated with accuracy enhancement on the SIN task when seeing the talker's face. CONCLUSIONS: H-SLI children have poorly defined correspondences between speech sounds and visually observed articulatory movements that produce them. En ligne : http://dx.doi.org/10.1186/s11689-016-9168-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=349
in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.33[article] Atypical audiovisual word processing in school-age children with a history of specific language impairment: an event-related potential study [Texte imprimé et/ou numérique] / N. KAGANOVICH, Auteur ; J. SCHUMAKER, Auteur ; C. ROWLAND, Auteur . - p.33.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.33
Mots-clés : Audiovisual matching Event-related potentials Lexical processing Specific language impairment Speech-in-noise perception Index. décimale : PER Périodiques Résumé : BACKGROUND: Visual speech cues influence different aspects of language acquisition. However, whether developmental language disorders may be associated with atypical processing of visual speech is unknown. In this study, we used behavioral and ERP measures to determine whether children with a history of SLI (H-SLI) differ from their age-matched typically developing (TD) peers in the ability to match auditory words with corresponding silent visual articulations. METHODS: Nineteen 7-13-year-old H-SLI children and 19 age-matched TD children participated in the study. Children first heard a word and then saw a speaker silently articulating a word. In half of trials, the articulated word matched the auditory word (congruent trials), while in another half, it did not (incongruent trials). Children specified whether the auditory and the articulated words matched. We examined ERPs elicited by the onset of visual stimuli (visual P1, N1, and P2) as well as ERPs elicited by the articulatory movements themselves-namely, N400 to incongruent articulations and late positive complex (LPC) to congruent articulations. We also examined whether ERP measures of visual speech processing could predict (1) children's linguistic skills and (2) the use of visual speech cues when listening to speech-in-noise (SIN). RESULTS: H-SLI children were less accurate in matching auditory words with visual articulations. They had a significantly reduced P1 to the talker's face and a smaller N400 to incongruent articulations. In contrast, congruent articulations elicited LPCs of similar amplitude in both groups of children. The P1 and N400 amplitude was significantly correlated with accuracy enhancement on the SIN task when seeing the talker's face. CONCLUSIONS: H-SLI children have poorly defined correspondences between speech sounds and visually observed articulatory movements that produce them. En ligne : http://dx.doi.org/10.1186/s11689-016-9168-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=349 Convergent genetic linkage and associations to language, speech and reading measures in families of probands with Specific Language Impairment / M. L. RICE in Journal of Neurodevelopmental Disorders, 1-4 (December 2009)
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Titre : Convergent genetic linkage and associations to language, speech and reading measures in families of probands with Specific Language Impairment Type de document : Texte imprimé et/ou numérique Auteurs : M. L. RICE, Auteur ; S. D. SMITH, Auteur ; J. GAYAN, Auteur Article en page(s) : p.264-82 Langues : Anglais (eng) Mots-clés : Gene associations Gene linkage Language impairments Language, reading, speech phenotypes Specific language impairment Index. décimale : PER Périodiques Résumé : UNLABELLED: We analyzed genetic linkage and association of measures of language, speech and reading phenotypes to candidate regions in a single set of families ascertained for SLI. Sib-pair and family-based analyses were carried out for candidate gene loci for Reading Disability (RD) on chromosomes 1p36, 3p12-q13, 6p22, and 15q21, and the speech-language candidate region on 7q31 in a sample of 322 participants ascertained for Specific Language Impairment (SLI). Replication or suggestive replication of linkage was obtained in all of these regions, but the evidence suggests that the genetic influences may not be identical for the three domains. In particular, linkage analysis replicated the influence of genes on chromosome 6p for all three domains, but association analysis indicated that only one of the candidate genes for reading disability, KIAA0319, had a strong effect on language phenotypes. The findings are consistent with a multiple gene model of the comorbidity between language impairments and reading disability and have implications for neurocognitive developmental models and maturational processes. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s11689-009-9031-x) contains supplementary material, which is available to authorized users. En ligne : http://dx.doi.org/10.1007/s11689-009-9031-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=341
in Journal of Neurodevelopmental Disorders > 1-4 (December 2009) . - p.264-82[article] Convergent genetic linkage and associations to language, speech and reading measures in families of probands with Specific Language Impairment [Texte imprimé et/ou numérique] / M. L. RICE, Auteur ; S. D. SMITH, Auteur ; J. GAYAN, Auteur . - p.264-82.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 1-4 (December 2009) . - p.264-82
Mots-clés : Gene associations Gene linkage Language impairments Language, reading, speech phenotypes Specific language impairment Index. décimale : PER Périodiques Résumé : UNLABELLED: We analyzed genetic linkage and association of measures of language, speech and reading phenotypes to candidate regions in a single set of families ascertained for SLI. Sib-pair and family-based analyses were carried out for candidate gene loci for Reading Disability (RD) on chromosomes 1p36, 3p12-q13, 6p22, and 15q21, and the speech-language candidate region on 7q31 in a sample of 322 participants ascertained for Specific Language Impairment (SLI). Replication or suggestive replication of linkage was obtained in all of these regions, but the evidence suggests that the genetic influences may not be identical for the three domains. In particular, linkage analysis replicated the influence of genes on chromosome 6p for all three domains, but association analysis indicated that only one of the candidate genes for reading disability, KIAA0319, had a strong effect on language phenotypes. The findings are consistent with a multiple gene model of the comorbidity between language impairments and reading disability and have implications for neurocognitive developmental models and maturational processes. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s11689-009-9031-x) contains supplementary material, which is available to authorized users. En ligne : http://dx.doi.org/10.1007/s11689-009-9031-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=341 Differential language markers of pathology in Autism, Pervasive Developmental Disorder Not Otherwise Specified and Specific Language Impairment / Julie DEMOUY in Research in Autism Spectrum Disorders, 5-4 (October-December 2011)
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Titre : Differential language markers of pathology in Autism, Pervasive Developmental Disorder Not Otherwise Specified and Specific Language Impairment Type de document : Texte imprimé et/ou numérique Auteurs : Julie DEMOUY, Auteur ; Monique PLAZA, Auteur ; Jean XAVIER, Auteur ; Fabien RINGEVAL, Auteur ; Mohamed CHETOUANI, Auteur ; Didier PERISSE, Auteur ; Dominique CHAUVIN, Auteur ; Sylvie VIAUX, Auteur ; Bernard GOLSE, Auteur ; David COHEN, Auteur ; Laurence ROBEL, Auteur Année de publication : 2011 Article en page(s) : p.1402-1412 Langues : Anglais (eng) Mots-clés : Autism Specific Language Impairment Pervasive Developmental Disorder Not Otherwise Specified Language Prosody Index. décimale : PER Périodiques Résumé : Language impairment is a common core feature in Pervasive Developmental Disorders (PDD) and Specific Language Impairment (SLI). Many studies have tried to define the specific language profiles of these disorders, some claiming the existence of overlaps, and others conceiving of them as separate categories. Fewer have sought to determine whether and how PDD-NOS language profile, including prosody, differs from those of Autistic Disorder (AD) and SLI. Here, 12 children with AD (mean age 9.75; sd 3.5), 10 with PDD-NOS (mean age 9.83; sd 2.17), and 13 children with SLI (mean age 9.17; sd 3.9) matched for age, sex and academic skills were explored for both receptive and expressive language skills. Prosody was also assessed with an intonation imitation task analyzed through automatic speech processing and compared to 70 typical developing controls matched for age and sex. A similar delay in phonology and vocabulary was observed in the three groups as were significant but variable differences between the groups in syntax, pragmatics and prosody. SLI showed correlations between chronological age and raw scores in all language tasks, while AD and PDD-NOS did not. Furthermore, SLI showed correlation within all raw scores in language tasks. Most of those correlations were also found in PDD-NOS but not in AD. In conclusion, these findings support the hypothesis that language skills in AD and SLI rely on different mechanisms, while PDD-NOS show an intermediate profile sharing some characteristics of both AD and SLI. They also suggest that expressive syntax, pragmatic skills and some intonation features could be considered as language differential markers of pathology, challenging the DSM-V proposal of broad criteria. En ligne : http://dx.doi.org/10.1016/j.rasd.2011.01.026 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=125
in Research in Autism Spectrum Disorders > 5-4 (October-December 2011) . - p.1402-1412[article] Differential language markers of pathology in Autism, Pervasive Developmental Disorder Not Otherwise Specified and Specific Language Impairment [Texte imprimé et/ou numérique] / Julie DEMOUY, Auteur ; Monique PLAZA, Auteur ; Jean XAVIER, Auteur ; Fabien RINGEVAL, Auteur ; Mohamed CHETOUANI, Auteur ; Didier PERISSE, Auteur ; Dominique CHAUVIN, Auteur ; Sylvie VIAUX, Auteur ; Bernard GOLSE, Auteur ; David COHEN, Auteur ; Laurence ROBEL, Auteur . - 2011 . - p.1402-1412.
Langues : Anglais (eng)
in Research in Autism Spectrum Disorders > 5-4 (October-December 2011) . - p.1402-1412
Mots-clés : Autism Specific Language Impairment Pervasive Developmental Disorder Not Otherwise Specified Language Prosody Index. décimale : PER Périodiques Résumé : Language impairment is a common core feature in Pervasive Developmental Disorders (PDD) and Specific Language Impairment (SLI). Many studies have tried to define the specific language profiles of these disorders, some claiming the existence of overlaps, and others conceiving of them as separate categories. Fewer have sought to determine whether and how PDD-NOS language profile, including prosody, differs from those of Autistic Disorder (AD) and SLI. Here, 12 children with AD (mean age 9.75; sd 3.5), 10 with PDD-NOS (mean age 9.83; sd 2.17), and 13 children with SLI (mean age 9.17; sd 3.9) matched for age, sex and academic skills were explored for both receptive and expressive language skills. Prosody was also assessed with an intonation imitation task analyzed through automatic speech processing and compared to 70 typical developing controls matched for age and sex. A similar delay in phonology and vocabulary was observed in the three groups as were significant but variable differences between the groups in syntax, pragmatics and prosody. SLI showed correlations between chronological age and raw scores in all language tasks, while AD and PDD-NOS did not. Furthermore, SLI showed correlation within all raw scores in language tasks. Most of those correlations were also found in PDD-NOS but not in AD. In conclusion, these findings support the hypothesis that language skills in AD and SLI rely on different mechanisms, while PDD-NOS show an intermediate profile sharing some characteristics of both AD and SLI. They also suggest that expressive syntax, pragmatic skills and some intonation features could be considered as language differential markers of pathology, challenging the DSM-V proposal of broad criteria. En ligne : http://dx.doi.org/10.1016/j.rasd.2011.01.026 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=125 Do Children with Specific Language Impairment have a Cognitive Profile Reminiscent of Autism? A Review of the Literature / Lauren J. TAYLOR in Journal of Autism and Developmental Disorders, 42-10 (October 2012)
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PermalinkEvidence for Distinct Cognitive Profiles in Autism Spectrum Disorders and Specific Language Impairment / Lauren J. TAYLOR in Journal of Autism and Developmental Disorders, 44-1 (January 2014)
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PermalinkExecutive functioning in children with specific language impairment / Lucy A. HENRY in Journal of Child Psychology and Psychiatry, 53-1 (January 2012)
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PermalinkLanguage deficits in specific language impairment, attention deficit/hyperactivity disorder, and autism spectrum disorder: An analysis of polygenic risk / Ron NUDEL in Autism Research, 13-3 (March 2020)
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PermalinkLexical Processing in School-Age Children with Autism Spectrum Disorder and Children with Specific Language Impairment: The Role of Semantics / Eileen HAEBIG in Journal of Autism and Developmental Disorders, 45-12 (December 2015)
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