Are There Enhanced MBP Autoantibodies in Autism? / Jane E. LIBBEY in Journal of Autism and Developmental Disorders, 38-2 (February 2008)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 38-2 (February 2008) . - p.324-332 Titre : Are There Enhanced MBP Autoantibodies in Autism? Type de document : Texte imprimé et/ou numérique Auteurs : Jane E. LIBBEY, Auteur ; William M. MCMAHON, Auteur ; Janet E. LAINHART, Auteur ; Hilary H. COON, Auteur ; Nikki J. KIRKMAN, Auteur ; Thayne L. SWEETEN, Auteur ; Judith N. MILLER, Auteur ; Edward K. STEVENSON, Auteur ; Robert S. FUJINAMI, Auteur Année de publication : 2008 Article en page(s) : p.324-332 Langues : Anglais (eng) Mots-clés : Autism Tourette-syndrome Autoantibody Myelin-basic-protein Immunoglobulin Index. décimale : PER Périodiques Résumé : Autoantibodies to central nervous system antigens, such as myelin basic protein (MBP), may play a role in autism. We measured autoantibody titers to MBP in children with autism, both classic onset and regressive onset forms, controls (healthy age- and gender-matched) and individuals with Tourette syndrome via enzyme-linked immunosorbent assays. We found a significant difference in autoantibody titers to MBP, not accounted for by age or medication, between Tourette and classic autism (both significantly lower) when compared to regressive autism, but not when compared to controls. Autoantibody responses against MBP are unlikely to play a pathogenic role in autism. En ligne : http://dx.doi.org/10.1007/s10803-007-0400-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=318 [article] Are There Enhanced MBP Autoantibodies in Autism? [Texte imprimé et/ou numérique] / Jane E. LIBBEY, Auteur ; William M. MCMAHON, Auteur ; Janet E. LAINHART, Auteur ; Hilary H. COON, Auteur ; Nikki J. KIRKMAN, Auteur ; Thayne L. SWEETEN, Auteur ; Judith N. MILLER, Auteur ; Edward K. STEVENSON, Auteur ; Robert S. FUJINAMI, Auteur . - 2008 . - p.324-332. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 38-2 (February 2008) . - p.324-332 Mots-clés : Autism Tourette-syndrome Autoantibody Myelin-basic-protein Immunoglobulin Index. décimale : PER Périodiques Résumé : Autoantibodies to central nervous system antigens, such as myelin basic protein (MBP), may play a role in autism. We measured autoantibody titers to MBP in children with autism, both classic onset and regressive onset forms, controls (healthy age- and gender-matched) and individuals with Tourette syndrome via enzyme-linked immunosorbent assays. We found a significant difference in autoantibody titers to MBP, not accounted for by age or medication, between Tourette and classic autism (both significantly lower) when compared to regressive autism, but not when compared to controls. Autoantibody responses against MBP are unlikely to play a pathogenic role in autism. En ligne : http://dx.doi.org/10.1007/s10803-007-0400-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=318

Autism Spectrum Disorder Reclassified: A Second Look at the 1980s Utah/UCLA Autism Epidemiologic Study / Judith S. MILLER in Journal of Autism and Developmental Disorders, 43-1 (January 2013)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 43-1 (January 2013) . - p.200-210 Titre : Autism Spectrum Disorder Reclassified: A Second Look at the 1980s Utah/UCLA Autism Epidemiologic Study Type de document : Texte imprimé et/ou numérique Auteurs : Judith S. MILLER, Auteur ; Deborah A. BILDER, Auteur ; Megan A. FARLEY, Auteur ; Hilary H. COON, Auteur ; Judith PINBOROUGH-ZIMMERMAN, Auteur ; William R. JENSON, Auteur ; Catherine E. RICE, Auteur ; Eric FOMBONNE, Auteur ; Carmen B. PINGREE, Auteur ; Edward R. RITVO, Auteur ; Riva-Ariella RITVO, Auteur ; William M. MCMAHON, Auteur Année de publication : 2013 Article en page(s) : p.200-210 Langues : Anglais (eng) Mots-clés : Autism  Epidemiology  Prevalence  Diagnostic criteria  Intellectual disability Index. décimale : PER Périodiques Résumé : The purpose of the present study was to re-examine diagnostic data from a state-wide autism prevalence study (n = 489) conducted in the 1980s to investigate the impact of broader diagnostic criteria on autism spectrum disorder (ASD) case status. Sixty-four (59 %) of the 108 originally 'Diagnosed Not Autistic' met the current ASD case definition. The average IQ estimate in the newly identified group (IQ = 35.58; SD = 23.01) was significantly lower than in the original group (IQ = 56.19 SD = 21.21; t = 5.75; p .0001). Today's diagnostic criteria applied to participants ascertained in the 1980s identified more cases of autism with intellectual disability. The current analysis puts this historic work into context and highlights differences in ascertainment between epidemiological studies performed decades ago and those of today. En ligne : http://dx.doi.org/10.1007/s10803-012-1566-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=187 [article] Autism Spectrum Disorder Reclassified: A Second Look at the 1980s Utah/UCLA Autism Epidemiologic Study [Texte imprimé et/ou numérique] / Judith S. MILLER, Auteur ; Deborah A. BILDER, Auteur ; Megan A. FARLEY, Auteur ; Hilary H. COON, Auteur ; Judith PINBOROUGH-ZIMMERMAN, Auteur ; William R. JENSON, Auteur ; Catherine E. RICE, Auteur ; Eric FOMBONNE, Auteur ; Carmen B. PINGREE, Auteur ; Edward R. RITVO, Auteur ; Riva-Ariella RITVO, Auteur ; William M. MCMAHON, Auteur . - 2013 . - p.200-210. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 43-1 (January 2013) . - p.200-210 Mots-clés : Autism  Epidemiology  Prevalence  Diagnostic criteria  Intellectual disability Index. décimale : PER Périodiques Résumé : The purpose of the present study was to re-examine diagnostic data from a state-wide autism prevalence study (n = 489) conducted in the 1980s to investigate the impact of broader diagnostic criteria on autism spectrum disorder (ASD) case status. Sixty-four (59 %) of the 108 originally 'Diagnosed Not Autistic' met the current ASD case definition. The average IQ estimate in the newly identified group (IQ = 35.58; SD = 23.01) was significantly lower than in the original group (IQ = 56.19 SD = 21.21; t = 5.75; p .0001). Today's diagnostic criteria applied to participants ascertained in the 1980s identified more cases of autism with intellectual disability. The current analysis puts this historic work into context and highlights differences in ascertainment between epidemiological studies performed decades ago and those of today. En ligne : http://dx.doi.org/10.1007/s10803-012-1566-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=187

Excess Mortality and Causes of Death in Autism Spectrum Disorders: A Follow up of the 1980s Utah/UCLA Autism Epidemiologic Study / Deborah A. BILDER in Journal of Autism and Developmental Disorders, 43-5 (May 2013)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 43-5 (May 2013) . - p.1196-1204 Titre : Excess Mortality and Causes of Death in Autism Spectrum Disorders: A Follow up of the 1980s Utah/UCLA Autism Epidemiologic Study Type de document : Texte imprimé et/ou numérique Auteurs : Deborah A. BILDER, Auteur ; Elizabeth L. BOTTS, Auteur ; Ken R. SMITH, Auteur ; Richard PIMENTEL, Auteur ; Megan A. FARLEY, Auteur ; Joseph VISKOCHIL, Auteur ; William M. MCMAHON, Auteur ; Heidi BLOCK, Auteur ; Edward R. RITVO, Auteur ; Riva-Ariella RITVO, Auteur ; Hilary H. COON, Auteur Article en page(s) : p.1196-1204 Langues : Anglais (eng) Mots-clés : Autism spectrum disorders  Mortality  Causes of death  Epilepsy  Intellectual disability Index. décimale : PER Périodiques Résumé : This study’s purpose was to investigate mortality among individuals with autism spectrum disorders (ASD) ascertained during a 1980s statewide autism prevalence study (n = 305) in relation to controls. Twenty-nine of these individuals (9.5 %) died by the time of follow up, representing a hazard rate ratio of 9.9 (95 % CI 5.7–17.2) in relation to population controls. Death certificates identified respiratory, cardiac, and epileptic events as the most common causes of death. The elevated mortality risk associated with ASD in the study cohort appeared related to the presence of comorbid medical conditions and intellectual disability rather than ASD itself suggesting the importance of coordinated medical care for this high risk sub-population of individuals with ASD. En ligne : http://dx.doi.org/10.1007/s10803-012-1664-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=195 [article] Excess Mortality and Causes of Death in Autism Spectrum Disorders: A Follow up of the 1980s Utah/UCLA Autism Epidemiologic Study [Texte imprimé et/ou numérique] / Deborah A. BILDER, Auteur ; Elizabeth L. BOTTS, Auteur ; Ken R. SMITH, Auteur ; Richard PIMENTEL, Auteur ; Megan A. FARLEY, Auteur ; Joseph VISKOCHIL, Auteur ; William M. MCMAHON, Auteur ; Heidi BLOCK, Auteur ; Edward R. RITVO, Auteur ; Riva-Ariella RITVO, Auteur ; Hilary H. COON, Auteur . - p.1196-1204. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 43-5 (May 2013) . - p.1196-1204 Mots-clés : Autism spectrum disorders  Mortality  Causes of death  Epilepsy  Intellectual disability Index. décimale : PER Périodiques Résumé : This study’s purpose was to investigate mortality among individuals with autism spectrum disorders (ASD) ascertained during a 1980s statewide autism prevalence study (n = 305) in relation to controls. Twenty-nine of these individuals (9.5 %) died by the time of follow up, representing a hazard rate ratio of 9.9 (95 % CI 5.7–17.2) in relation to population controls. Death certificates identified respiratory, cardiac, and epileptic events as the most common causes of death. The elevated mortality risk associated with ASD in the study cohort appeared related to the presence of comorbid medical conditions and intellectual disability rather than ASD itself suggesting the importance of coordinated medical care for this high risk sub-population of individuals with ASD. En ligne : http://dx.doi.org/10.1007/s10803-012-1664-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=195

Genome-wide linkage analyses of two repetitive behavior phenotypes in Utah pedigrees with autism spectrum disorders / Dale CANNON in Molecular Autism, (February 2010)  

Public ISBD [article]  inMolecular Autism > (February 2010) . - 13 p. Titre : Genome-wide linkage analyses of two repetitive behavior phenotypes in Utah pedigrees with autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Dale CANNON, Auteur ; William M. MCMAHON, Auteur ; Hilary H. COON, Auteur ; Kristina ALLEN-BRADY, Auteur ; Reid ROBISON, Auteur ; Judith S. MILLER, Auteur ; Michele E. VILLALOBOS, Auteur ; Natalie K. WAHMHOFF, Auteur Année de publication : 2010 Article en page(s) : 13 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Background It has been suggested that efforts to identify genetic risk markers of autism spectrum disorder (ASD) would benefit from the analysis of more narrowly defined ASD phenotypes. Previous research indicates that 'insistence on sameness' (IS) and 'repetitive sensory-motor actions' (RSMA) are two factors within the ASD 'repetitive and stereotyped behavior' domain. The primary aim of this study was to identify genetic risk markers of both factors to allow comparison of those markers with one another and with markers found in the same set of pedigrees using ASD diagnosis as the phenotype. Thus, we empirically addresses the possibilities that more narrowly defined phenotypes improve linkage analysis signals and that different narrowly defined phenotypes are associated with different loci. Secondary aims were to examine the correlates of IS and RSMA and to assess the heritability of both scales. Methods A genome-wide linkage analysis was conducted with a sample of 70 multiplex ASD pedigrees using IS and RSMA as phenotypes. Genotyping services were provided by the Center for Inherited Disease Research using the 6 K single nucleotide polymorphism linkage panel. Analysis was done using the multipoint linkage software program MCLINK, a Markov chain Monte Carlo (MCMC) method that allows for multilocus linkage analysis on large extended pedigrees. Results Genome-wide significance was observed for IS at 2q37.1-q37.3 (dominant model heterogeneity lod score (hlod) 3.42) and for RSMA at 15q13.1-q14 (recessive model hlod 3.93). We found some linkage signals that overlapped and others that were not observed in our previous linkage analysis of the ASD phenotype in the same pedigrees, and regions varied in the range of phenotypes with which they were linked. A new finding with respect to IS was that it is positively associated with IQ if the IS-RSMA correlation is statistically controlled. Conclusions The finding that IS and RSMA are linked to different regions that only partially overlap regions previously identified with ASD as the phenotype supports the value of including multiple, narrowly defined phenotypes in ASD genetic research. Further, we replicated previous reports indicating that RSMA is more strongly associated than IS with measures of ASD severity. En ligne : http://dx.doi.org/10.1186/2040-2392-1-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=102 [article] Genome-wide linkage analyses of two repetitive behavior phenotypes in Utah pedigrees with autism spectrum disorders [Texte imprimé et/ou numérique] / Dale CANNON, Auteur ; William M. MCMAHON, Auteur ; Hilary H. COON, Auteur ; Kristina ALLEN-BRADY, Auteur ; Reid ROBISON, Auteur ; Judith S. MILLER, Auteur ; Michele E. VILLALOBOS, Auteur ; Natalie K. WAHMHOFF, Auteur . - 2010 . - 13 p. Langues : Anglais (eng) in Molecular Autism > (February 2010) . - 13 p. Index. décimale : PER Périodiques Résumé : Background It has been suggested that efforts to identify genetic risk markers of autism spectrum disorder (ASD) would benefit from the analysis of more narrowly defined ASD phenotypes. Previous research indicates that 'insistence on sameness' (IS) and 'repetitive sensory-motor actions' (RSMA) are two factors within the ASD 'repetitive and stereotyped behavior' domain. The primary aim of this study was to identify genetic risk markers of both factors to allow comparison of those markers with one another and with markers found in the same set of pedigrees using ASD diagnosis as the phenotype. Thus, we empirically addresses the possibilities that more narrowly defined phenotypes improve linkage analysis signals and that different narrowly defined phenotypes are associated with different loci. Secondary aims were to examine the correlates of IS and RSMA and to assess the heritability of both scales. Methods A genome-wide linkage analysis was conducted with a sample of 70 multiplex ASD pedigrees using IS and RSMA as phenotypes. Genotyping services were provided by the Center for Inherited Disease Research using the 6 K single nucleotide polymorphism linkage panel. Analysis was done using the multipoint linkage software program MCLINK, a Markov chain Monte Carlo (MCMC) method that allows for multilocus linkage analysis on large extended pedigrees. Results Genome-wide significance was observed for IS at 2q37.1-q37.3 (dominant model heterogeneity lod score (hlod) 3.42) and for RSMA at 15q13.1-q14 (recessive model hlod 3.93). We found some linkage signals that overlapped and others that were not observed in our previous linkage analysis of the ASD phenotype in the same pedigrees, and regions varied in the range of phenotypes with which they were linked. A new finding with respect to IS was that it is positively associated with IQ if the IS-RSMA correlation is statistically controlled. Conclusions The finding that IS and RSMA are linked to different regions that only partially overlap regions previously identified with ASD as the phenotype supports the value of including multiple, narrowly defined phenotypes in ASD genetic research. Further, we replicated previous reports indicating that RSMA is more strongly associated than IS with measures of ASD severity. En ligne : http://dx.doi.org/10.1186/2040-2392-1-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=102

Genome-wide linkage using the Social Responsiveness Scale in Utah autism pedigrees / Hilary H. COON in Molecular Autism, (April 2010)  

Public ISBD [article]  inMolecular Autism > (April 2010) . - 14 p. Titre : Genome-wide linkage using the Social Responsiveness Scale in Utah autism pedigrees Type de document : Texte imprimé et/ou numérique Auteurs : Hilary H. COON, Auteur ; William M. MCMAHON, Auteur ; Kristina ALLEN-BRADY, Auteur ; Dale CANNON, Auteur ; Reid ROBISON, Auteur ; Judith S. MILLER, Auteur ; Michele E. VILLALOBOS, Auteur ; Nicola J. CAMP, Auteur Année de publication : 2010 Article en page(s) : 14 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Background Autism Spectrum Disorders (ASD) are phenotypically heterogeneous, characterized by impairments in the development of communication and social behaviour and the presence of repetitive behaviour and restricted interests. Dissecting the genetic complexity of ASD may require phenotypic data reflecting more detail than is offered by a categorical clinical diagnosis. Such data are available from the Social Responsiveness Scale (SRS) which is a continuous, quantitative measure of social ability giving scores that range from significant impairment to above average ability. Methods We present genome-wide results for 64 multiplex and extended families ranging from two to nine generations. SRS scores were available from 518 genotyped pedigree subjects, including affected and unaffected relatives. Genotypes from the Illumina 6 k single nucleotide polymorphism panel were provided by the Center for Inherited Disease Research. Quantitative and qualitative analyses were done using MCLINK, a software package that uses Markov chain Monte Carlo (MCMC) methods to perform multilocus linkage analysis on large extended pedigrees. Results When analysed as a qualitative trait, linkage occurred in the same locations as in our previous affected-only genome scan of these families, with findings on chromosomes 7q31.1-q32.3 [heterogeneity logarithm of the odds (HLOD) = 2.91], 15q13.3 (HLOD = 3.64), and 13q12.3 (HLOD = 2.23). Additional positive qualitative results were seen on chromosomes 6 and 10 in regions that may be of interest for other neuropsychiatric disorders. When analysed as a quantitative trait, results replicated a peak found in an independent sample using quantitative SRS scores on chromosome 11p15.1-p15.4 (HLOD = 2.77). Additional positive quantitative results were seen on chromosomes 7, 9, and 19. Conclusions The SRS linkage peaks reported here substantially overlap with peaks found in our previous affected-only genome scan of clinical diagnosis. In addition, we replicated a previous SRS peak in an independent sample. These results suggest the SRS is a robust and useful phenotype measure for genetic linkage studies of ASD. Finally, analyses of SRS scores revealed linkage peaks overlapping with evidence from other studies of neuropsychiatric diseases. The information available from the SRS itself may, therefore, reveal locations for autism susceptibility genes that would not otherwise be detected. En ligne : http://dx.doi.org/10.1186/2040-2392-1-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=102 [article] Genome-wide linkage using the Social Responsiveness Scale in Utah autism pedigrees [Texte imprimé et/ou numérique] / Hilary H. COON, Auteur ; William M. MCMAHON, Auteur ; Kristina ALLEN-BRADY, Auteur ; Dale CANNON, Auteur ; Reid ROBISON, Auteur ; Judith S. MILLER, Auteur ; Michele E. VILLALOBOS, Auteur ; Nicola J. CAMP, Auteur . - 2010 . - 14 p. Langues : Anglais (eng) in Molecular Autism > (April 2010) . - 14 p. Index. décimale : PER Périodiques Résumé : Background Autism Spectrum Disorders (ASD) are phenotypically heterogeneous, characterized by impairments in the development of communication and social behaviour and the presence of repetitive behaviour and restricted interests. Dissecting the genetic complexity of ASD may require phenotypic data reflecting more detail than is offered by a categorical clinical diagnosis. Such data are available from the Social Responsiveness Scale (SRS) which is a continuous, quantitative measure of social ability giving scores that range from significant impairment to above average ability. Methods We present genome-wide results for 64 multiplex and extended families ranging from two to nine generations. SRS scores were available from 518 genotyped pedigree subjects, including affected and unaffected relatives. Genotypes from the Illumina 6 k single nucleotide polymorphism panel were provided by the Center for Inherited Disease Research. Quantitative and qualitative analyses were done using MCLINK, a software package that uses Markov chain Monte Carlo (MCMC) methods to perform multilocus linkage analysis on large extended pedigrees. Results When analysed as a qualitative trait, linkage occurred in the same locations as in our previous affected-only genome scan of these families, with findings on chromosomes 7q31.1-q32.3 [heterogeneity logarithm of the odds (HLOD) = 2.91], 15q13.3 (HLOD = 3.64), and 13q12.3 (HLOD = 2.23). Additional positive qualitative results were seen on chromosomes 6 and 10 in regions that may be of interest for other neuropsychiatric disorders. When analysed as a quantitative trait, results replicated a peak found in an independent sample using quantitative SRS scores on chromosome 11p15.1-p15.4 (HLOD = 2.77). Additional positive quantitative results were seen on chromosomes 7, 9, and 19. Conclusions The SRS linkage peaks reported here substantially overlap with peaks found in our previous affected-only genome scan of clinical diagnosis. In addition, we replicated a previous SRS peak in an independent sample. These results suggest the SRS is a robust and useful phenotype measure for genetic linkage studies of ASD. Finally, analyses of SRS scores revealed linkage peaks overlapping with evidence from other studies of neuropsychiatric diseases. The information available from the SRS itself may, therefore, reveal locations for autism susceptibility genes that would not otherwise be detected. En ligne : http://dx.doi.org/10.1186/2040-2392-1-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=102

How Relevant are GFAP Autoantibodies in Autism and Tourette Syndrome? / Nikki J. KIRKMAN in Journal of Autism and Developmental Disorders, 38-2 (February 2008)  

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Narrowing the broader autism phenotype: A study using the Communication Checklist - Adult Version (CC-A) / Andrew J. O. WHITEHOUSE in Autism, 14-6 (November 2010)  

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No evidence for IL1RAPL1 involvement in selected high-risk autism pedigrees from the AGRE data set / Kristina ALLEN-BRADY in Autism Research, 4-4 (August 2011)  

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A unified theory of autism revisited: linkage evidence points to chromosome X using a high-risk subset of AGRE families / Kristina ALLEN-BRADY in Autism Research, 3-2 (April 2010)  

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