Genetic approaches to understanding the causes of stuttering / D. DRAYNA in Journal of Neurodevelopmental Disorders, 3-4 (December 2011)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 3-4 (December 2011) . - p.374-80 Titre : Genetic approaches to understanding the causes of stuttering Type de document : Texte imprimé et/ou numérique Auteurs : D. DRAYNA, Auteur ; C. KANG, Auteur Article en page(s) : p.374-80 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Stuttering is a common but poorly understood speech disorder. Evidence accumulated over the past several decades has indicated that genetic factors are involved, and genetic linkage studies have begun to identify specific chromosomal loci at which causative genes are likely to reside. A detailed investigation of one such region on chromosome 12 has identified mutations in the GNPTAB gene that are associated with stuttering in large families and in the general population. Subsequent studies identified mutations in the functionally related GNPTG and NAGPA genes. Mutations in these genes disrupt the lysosomal targeting pathway that generates the Mannose 6-phosphate signal, which directs a diverse group of enzymes to their target location in the lysosome of the cell. While mutations in these three genes can be identified in less than 10% of cases of familial stuttering, this knowledge allows a variety of new studies that can help identify the neuropathology that underlies this disorder. En ligne : http://dx.doi.org/10.1007/s11689-011-9090-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=344 [article] Genetic approaches to understanding the causes of stuttering [Texte imprimé et/ou numérique] / D. DRAYNA, Auteur ; C. KANG, Auteur . - p.374-80. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 3-4 (December 2011) . - p.374-80 Index. décimale : PER Périodiques Résumé : Stuttering is a common but poorly understood speech disorder. Evidence accumulated over the past several decades has indicated that genetic factors are involved, and genetic linkage studies have begun to identify specific chromosomal loci at which causative genes are likely to reside. A detailed investigation of one such region on chromosome 12 has identified mutations in the GNPTAB gene that are associated with stuttering in large families and in the general population. Subsequent studies identified mutations in the functionally related GNPTG and NAGPA genes. Mutations in these genes disrupt the lysosomal targeting pathway that generates the Mannose 6-phosphate signal, which directs a diverse group of enzymes to their target location in the lysosome of the cell. While mutations in these three genes can be identified in less than 10% of cases of familial stuttering, this knowledge allows a variety of new studies that can help identify the neuropathology that underlies this disorder. En ligne : http://dx.doi.org/10.1007/s11689-011-9090-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=344

Social Inferences in Agenesis of the Corpus Callosum and Autism: Semantic Analysis and Topic Modeling / T. RENTERIA-VAZQUEZ in Journal of Autism and Developmental Disorders, 52-2 (February 2022)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 52-2 (February 2022) . - p.569-583 Titre : Social Inferences in Agenesis of the Corpus Callosum and Autism: Semantic Analysis and Topic Modeling Type de document : Texte imprimé et/ou numérique Auteurs : T. RENTERIA-VAZQUEZ, Auteur ; W. S. BROWN, Auteur ; C. KANG, Auteur ; M. GRAVES, Auteur ; F. CASTELLI, Auteur ; L. K. PAUL, Auteur Article en page(s) : p.569-583 Langues : Anglais (eng) Mots-clés : Adult  Agenesis of Corpus Callosum  Autism Spectrum Disorder  Autistic Disorder  Corpus Callosum  Humans  Semantics  Agenesis of the corpus callosum  Autism  Mental attribution  Social inference Index. décimale : PER Périodiques Résumé : Impoverished capacity for social inference is one of several symptoms that are common to both agenesis of the corpus callosum (AgCC) and Autism Spectrum Disorder (ASD). This research compared the ability of 14 adults with AgCC, 13 high-functioning adults with ASD and 14 neurotypical controls to accurately attribute social meaning to the interactions of animated triangles. Descriptions of the animations were analyzed in three ways: subjective ratings, Linguistic Inquiry and Word Count, and topic modeling (Latent Dirichlet Allocation). Although subjective ratings indicated that all groups made similar inferences from the animations, the index of perplexity (atypicality of topic) generated from topic modeling revealed that inferences from individuals with AgCC or ASD displayed significantly less social imagination than those of controls. En ligne : http://dx.doi.org/10.1007/s10803-021-04957-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455 [article] Social Inferences in Agenesis of the Corpus Callosum and Autism: Semantic Analysis and Topic Modeling [Texte imprimé et/ou numérique] / T. RENTERIA-VAZQUEZ, Auteur ; W. S. BROWN, Auteur ; C. KANG, Auteur ; M. GRAVES, Auteur ; F. CASTELLI, Auteur ; L. K. PAUL, Auteur . - p.569-583. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 52-2 (February 2022) . - p.569-583 Mots-clés : Adult  Agenesis of Corpus Callosum  Autism Spectrum Disorder  Autistic Disorder  Corpus Callosum  Humans  Semantics  Agenesis of the corpus callosum  Autism  Mental attribution  Social inference Index. décimale : PER Périodiques Résumé : Impoverished capacity for social inference is one of several symptoms that are common to both agenesis of the corpus callosum (AgCC) and Autism Spectrum Disorder (ASD). This research compared the ability of 14 adults with AgCC, 13 high-functioning adults with ASD and 14 neurotypical controls to accurately attribute social meaning to the interactions of animated triangles. Descriptions of the animations were analyzed in three ways: subjective ratings, Linguistic Inquiry and Word Count, and topic modeling (Latent Dirichlet Allocation). Although subjective ratings indicated that all groups made similar inferences from the animations, the index of perplexity (atypicality of topic) generated from topic modeling revealed that inferences from individuals with AgCC or ASD displayed significantly less social imagination than those of controls. En ligne : http://dx.doi.org/10.1007/s10803-021-04957-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455

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