Combined linkage and linkage disequilibrium analysis of a motor speech phenotype within families ascertained for autism risk loci / J. F. FLAX in Journal of Neurodevelopmental Disorders, 2-4 (December 2010)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 2-4 (December 2010) . - p.210-223 Titre : Combined linkage and linkage disequilibrium analysis of a motor speech phenotype within families ascertained for autism risk loci Type de document : Texte imprimé et/ou numérique Auteurs : J. F. FLAX, Auteur ; A. HARE, Auteur ; M. A. AZARO, Auteur ; V. J. VIELAND, Auteur ; L. M. BRZUSTOWICZ, Auteur Article en page(s) : p.210-223 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Using behavioral and genetic information from the Autism Genetics Resource Exchange (AGRE) data set we developed phenotypes and investigated linkage and association for individuals with and without Autism Spectrum Disorders (ASD) who exhibit expressive language behaviors consistent with a motor speech disorder. Speech and language variables from Autism Diagnostic Interview-Revised (ADI-R) were used to develop a motor speech phenotype associated with non-verbal or unintelligible verbal behaviors (NVMSD:ALL) and a related phenotype restricted to individuals without significant comprehension difficulties (NVMSD:C). Using Affymetrix 5.0 data, the PPL framework was employed to assess the strength of evidence for or against trait-marker linkage and linkage disequilibrium (LD) across the genome. Ingenuity Pathway Analysis (IPA) was then utilized to identify potential genes for further investigation. We identified several linkage peaks based on two related language-speech phenotypes consistent with a potential motor speech disorder: chromosomes 1q24.2, 3q25.31, 4q22.3, 5p12, 5q33.1, 17p12, 17q11.2, and 17q22 for NVMSD:ALL and 4p15.2 and 21q22.2 for NVMSD:C. While no compelling evidence of association was obtained under those peaks, we identified several potential genes of interest using IPA. CONCLUSION: Several linkage peaks were identified based on two motor speech phenotypes. In the absence of evidence of association under these peaks, we suggest genes for further investigation based on their biological functions. Given that autism spectrum disorders are complex with a wide range of behaviors and a large number of underlying genes, these speech phenotypes may belong to a group of several that should be considered when developing narrow, well-defined, phenotypes in the attempt to reduce genetic heterogeneity. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s11689-010-9063-2) contains supplementary material, which is available to authorized users. En ligne : http://dx.doi.org/10.1007/s11689-010-9063-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342 [article] Combined linkage and linkage disequilibrium analysis of a motor speech phenotype within families ascertained for autism risk loci [Texte imprimé et/ou numérique] / J. F. FLAX, Auteur ; A. HARE, Auteur ; M. A. AZARO, Auteur ; V. J. VIELAND, Auteur ; L. M. BRZUSTOWICZ, Auteur . - p.210-223. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 2-4 (December 2010) . - p.210-223 Index. décimale : PER Périodiques Résumé : Using behavioral and genetic information from the Autism Genetics Resource Exchange (AGRE) data set we developed phenotypes and investigated linkage and association for individuals with and without Autism Spectrum Disorders (ASD) who exhibit expressive language behaviors consistent with a motor speech disorder. Speech and language variables from Autism Diagnostic Interview-Revised (ADI-R) were used to develop a motor speech phenotype associated with non-verbal or unintelligible verbal behaviors (NVMSD:ALL) and a related phenotype restricted to individuals without significant comprehension difficulties (NVMSD:C). Using Affymetrix 5.0 data, the PPL framework was employed to assess the strength of evidence for or against trait-marker linkage and linkage disequilibrium (LD) across the genome. Ingenuity Pathway Analysis (IPA) was then utilized to identify potential genes for further investigation. We identified several linkage peaks based on two related language-speech phenotypes consistent with a potential motor speech disorder: chromosomes 1q24.2, 3q25.31, 4q22.3, 5p12, 5q33.1, 17p12, 17q11.2, and 17q22 for NVMSD:ALL and 4p15.2 and 21q22.2 for NVMSD:C. While no compelling evidence of association was obtained under those peaks, we identified several potential genes of interest using IPA. CONCLUSION: Several linkage peaks were identified based on two motor speech phenotypes. In the absence of evidence of association under these peaks, we suggest genes for further investigation based on their biological functions. Given that autism spectrum disorders are complex with a wide range of behaviors and a large number of underlying genes, these speech phenotypes may belong to a group of several that should be considered when developing narrow, well-defined, phenotypes in the attempt to reduce genetic heterogeneity. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1007/s11689-010-9063-2) contains supplementary material, which is available to authorized users. En ligne : http://dx.doi.org/10.1007/s11689-010-9063-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342

Social (Pragmatic) Communication Disorder: Another name for the Broad Autism Phenotype? / J. FLAX in Autism, 23-8 (November 2019)  

Public ISBD [article]  inAutism > 23-8 (November 2019) . - p.1982-1992 Titre : Social (Pragmatic) Communication Disorder: Another name for the Broad Autism Phenotype? Type de document : Texte imprimé et/ou numérique Auteurs : J. FLAX, Auteur ; C. GWIN, Auteur ; S. WILSON, Auteur ; Y. FRADKIN, Auteur ; Steven BUYSKE, Auteur ; L. M. BRZUSTOWICZ, Auteur Article en page(s) : p.1982-1992 Langues : Anglais (eng) Mots-clés : autism spectrum disorder and Diagnostic and Statistical Manual of Mental  Disorders (5th ed.)  broad autism phenotype  language disorder  social communication  social pragmatic communication disorder Index. décimale : PER Périodiques Résumé : The Diagnostic and Statistical Manual of Mental Disorders' (5th ed.) Social (Pragmatic) Communication Disorder is meant to capture the social elements of communication dysfunction in children who do not meet autism spectrum disorder criteria. It is unclear whether Social (Pragmatic) Communication Disorder captures these elements without overlapping with Autism Spectrum Disorder or the Diagnostic and Statistical Manual of Mental Disorders' (5th ed.) Language Disorder. Standardized behavioral assessments administered during a family genetics study were used to evaluate the social communication impairment and the restricted interests and repetitive behaviors in persons with autism spectrum disorder, language impairment, or neither. Social communication impairment and restricted interests and repetitive behavior were significantly correlated in all family members regardless of affection status. Rates of social communication impairment and restricted interests and repetitive behavior were highest in individuals with autism spectrum disorder. One-third of family members with language impairment presented with at least mild/moderate levels of social communication impairment (36.6%) and restricted interests and repetitive behavior (43.3%). A subset of unaffected members also presented with mild/moderate levels of social communication impairment (parents = 10.1%, siblings 11.6%) and restricted interests and repetitive behavior (parents = 14.0%, siblings = 22.1%). The majority of child family members with mild/moderate levels of social communication impairment had similar restricted interest and repetitive behavior levels reflecting criteria representing the Broad Autism Phenotype. These data suggest that social pragmatic communication disorder does not capture the profiles of children who have both social communication impairment and restricted interests and repetitive behavior but are in need of clinical services. En ligne : http://dx.doi.org/10.1177/1362361318822503 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=407 [article] Social (Pragmatic) Communication Disorder: Another name for the Broad Autism Phenotype? [Texte imprimé et/ou numérique] / J. FLAX, Auteur ; C. GWIN, Auteur ; S. WILSON, Auteur ; Y. FRADKIN, Auteur ; Steven BUYSKE, Auteur ; L. M. BRZUSTOWICZ, Auteur . - p.1982-1992. Langues : Anglais (eng) in Autism > 23-8 (November 2019) . - p.1982-1992 Mots-clés : autism spectrum disorder and Diagnostic and Statistical Manual of Mental  Disorders (5th ed.)  broad autism phenotype  language disorder  social communication  social pragmatic communication disorder Index. décimale : PER Périodiques Résumé : The Diagnostic and Statistical Manual of Mental Disorders' (5th ed.) Social (Pragmatic) Communication Disorder is meant to capture the social elements of communication dysfunction in children who do not meet autism spectrum disorder criteria. It is unclear whether Social (Pragmatic) Communication Disorder captures these elements without overlapping with Autism Spectrum Disorder or the Diagnostic and Statistical Manual of Mental Disorders' (5th ed.) Language Disorder. Standardized behavioral assessments administered during a family genetics study were used to evaluate the social communication impairment and the restricted interests and repetitive behaviors in persons with autism spectrum disorder, language impairment, or neither. Social communication impairment and restricted interests and repetitive behavior were significantly correlated in all family members regardless of affection status. Rates of social communication impairment and restricted interests and repetitive behavior were highest in individuals with autism spectrum disorder. One-third of family members with language impairment presented with at least mild/moderate levels of social communication impairment (36.6%) and restricted interests and repetitive behavior (43.3%). A subset of unaffected members also presented with mild/moderate levels of social communication impairment (parents = 10.1%, siblings 11.6%) and restricted interests and repetitive behavior (parents = 14.0%, siblings = 22.1%). The majority of child family members with mild/moderate levels of social communication impairment had similar restricted interest and repetitive behavior levels reflecting criteria representing the Broad Autism Phenotype. These data suggest that social pragmatic communication disorder does not capture the profiles of children who have both social communication impairment and restricted interests and repetitive behavior but are in need of clinical services. En ligne : http://dx.doi.org/10.1177/1362361318822503 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=407

Within-task variability on standardized language tests predicts autism spectrum disorder: a pilot study of the Response Dispersion Index / A. E. HARE-HARRIS in Journal of Neurodevelopmental Disorders, 11-1 (December 2019)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 21 p. Titre : Within-task variability on standardized language tests predicts autism spectrum disorder: a pilot study of the Response Dispersion Index Type de document : Texte imprimé et/ou numérique Auteurs : A. E. HARE-HARRIS, Auteur ; M. W. MITCHEL, Auteur ; S. M. MYERS, Auteur ; A. D. MITCHEL, Auteur ; B. R. KING, Auteur ; B. G. RUOCCO, Auteur ; C. L. MARTIN, Auteur ; J. F. FLAX, Auteur ; L. M. BRZUSTOWICZ, Auteur Article en page(s) : 21 p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Developmental difference  Intra-subtest scatter  Language impairment Index. décimale : PER Périodiques Résumé : BACKGROUND: Qualitatively atypical language development characterized by non-sequential skill acquisition within a developmental domain, which has been called developmental deviance or difference, is a common characteristic of autism spectrum disorder (ASD). We developed the Response Dispersion Index (RDI), a measure of this phenomenon based on intra-subtest scatter of item responses on standardized psychometric assessments, to assess the within-task variability among individuals with language impairment (LI) and/or ASD. METHODS: Standard clinical assessments of language were administered to 502 individuals from the New Jersey Language and Autism Genetics Study (NJLAGS) cohort. Participants were divided into four diagnostic groups: unaffected, ASD-only, LI-only, and ASD + LI. For each language measure, RDI was defined as the product of the total number of test items and the sum of the weight (based on item difficulty) of test items missed. Group differences in RDI were assessed, and the relationship between RDI and ASD diagnosis among individuals with LI was investigated for each language assessment. RESULTS: Although standard scores were unable to distinguish the LI-only and ASD/ASD + LI groups, the ASD/ASD + LI groups had higher RDI scores compared to LI-only group across all measures of expressive, pragmatic, and metalinguistic language. RDI was positively correlated with quantitative ASD traits across all subgroups and was an effective predictor of ASD diagnosis among individuals with LI. CONCLUSIONS: The RDI is an effective quantitative metric of developmental deviance/difference that correlates with ASD traits, supporting previous associations between ASD and non-sequential skill acquisition. The RDI can be adapted to other clinical measures to investigate the degree of difference that is not captured by standard performance summary scores. En ligne : https://dx.doi.org/10.1186/s11689-019-9283-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409 [article] Within-task variability on standardized language tests predicts autism spectrum disorder: a pilot study of the Response Dispersion Index [Texte imprimé et/ou numérique] / A. E. HARE-HARRIS, Auteur ; M. W. MITCHEL, Auteur ; S. M. MYERS, Auteur ; A. D. MITCHEL, Auteur ; B. R. KING, Auteur ; B. G. RUOCCO, Auteur ; C. L. MARTIN, Auteur ; J. F. FLAX, Auteur ; L. M. BRZUSTOWICZ, Auteur . - 21 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 21 p. Mots-clés : Autism spectrum disorder  Developmental difference  Intra-subtest scatter  Language impairment Index. décimale : PER Périodiques Résumé : BACKGROUND: Qualitatively atypical language development characterized by non-sequential skill acquisition within a developmental domain, which has been called developmental deviance or difference, is a common characteristic of autism spectrum disorder (ASD). We developed the Response Dispersion Index (RDI), a measure of this phenomenon based on intra-subtest scatter of item responses on standardized psychometric assessments, to assess the within-task variability among individuals with language impairment (LI) and/or ASD. METHODS: Standard clinical assessments of language were administered to 502 individuals from the New Jersey Language and Autism Genetics Study (NJLAGS) cohort. Participants were divided into four diagnostic groups: unaffected, ASD-only, LI-only, and ASD + LI. For each language measure, RDI was defined as the product of the total number of test items and the sum of the weight (based on item difficulty) of test items missed. Group differences in RDI were assessed, and the relationship between RDI and ASD diagnosis among individuals with LI was investigated for each language assessment. RESULTS: Although standard scores were unable to distinguish the LI-only and ASD/ASD + LI groups, the ASD/ASD + LI groups had higher RDI scores compared to LI-only group across all measures of expressive, pragmatic, and metalinguistic language. RDI was positively correlated with quantitative ASD traits across all subgroups and was an effective predictor of ASD diagnosis among individuals with LI. CONCLUSIONS: The RDI is an effective quantitative metric of developmental deviance/difference that correlates with ASD traits, supporting previous associations between ASD and non-sequential skill acquisition. The RDI can be adapted to other clinical measures to investigate the degree of difference that is not captured by standard performance summary scores. En ligne : https://dx.doi.org/10.1186/s11689-019-9283-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409

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