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Auteur Edwin H. Jr COOK |
Documents disponibles écrits par cet auteur (45)
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Literature review: Similar prevalence of ASD across the life span; amygdala enlargement in young children / Edwin H. Jr COOK in Autism Research, 2-6 (December 2009)
[article]
Titre : Literature review: Similar prevalence of ASD across the life span; amygdala enlargement in young children Type de document : Texte imprimé et/ou numérique Auteurs : Edwin H. Jr COOK, Auteur Année de publication : 2009 Article en page(s) : p.365-366 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.112 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=968
in Autism Research > 2-6 (December 2009) . - p.365-366[article] Literature review: Similar prevalence of ASD across the life span; amygdala enlargement in young children [Texte imprimé et/ou numérique] / Edwin H. Jr COOK, Auteur . - 2009 . - p.365-366.
Langues : Anglais (eng)
in Autism Research > 2-6 (December 2009) . - p.365-366
Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.112 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=968 Loci nominally associated with autism from genome-wide analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait loci / Lea K. DAVIS in Molecular Autism, (May 2012)
[article]
Titre : Loci nominally associated with autism from genome-wide analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait loci Type de document : Texte imprimé et/ou numérique Auteurs : Lea K. DAVIS, Auteur ; Eric R. GAMAZON, Auteur ; Emily KISTNER-GRIFFIN, Auteur ; Judith A. BADNER, Auteur ; Chunyu LIU, Auteur ; Edwin H. Jr COOK, Auteur ; James S. SUTCLIFFE, Auteur ; Nancy J. COX, Auteur Année de publication : 2012 Article en page(s) : 25 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Background
Autism spectrum disorder is a severe early onset neurodevelopmental disorder with high heritability but significant heterogeneity. Traditional genome-wide approaches to test for an association of common variants with autism susceptibility risk have met with limited success. However, novel methods to identify moderate risk alleles in attainable sample sizes are now gaining momentum.
Methods
In this study, we utilized publically available genome-wide association study data from the Autism Genome Project and annotated the results (P <0.001) for expression quantitative trait loci present in the parietal lobe (GSE35977), cerebellum (GSE35974) and lymphoblastoid cell lines (GSE7761). We then performed a test of enrichment by comparing these results to simulated data conditioned on minor allele frequency to generate an empirical P-value indicating statistically significant enrichment of expression quantitative trait loci in top results from the autism genome-wide association study.
Results
Our findings show a global enrichment of brain expression quantitative trait loci, but not lymphoblastoid cell line expression quantitative trait loci, among top single nucleotide polymorphisms from an autism genome-wide association study. Additionally, the data implicates individual genes SLC25A12, PANX1 and PANX2 as well as pathways previously implicated in autism.
Conclusions
These findings provide supportive rationale for the use of annotation-based approaches to genome-wide association studies.En ligne : http://dx.doi.org/10.1186/2040-2392-3-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=178
in Molecular Autism > (May 2012) . - 25 p.[article] Loci nominally associated with autism from genome-wide analysis show enrichment of brain expression quantitative trait loci but not lymphoblastoid cell line expression quantitative trait loci [Texte imprimé et/ou numérique] / Lea K. DAVIS, Auteur ; Eric R. GAMAZON, Auteur ; Emily KISTNER-GRIFFIN, Auteur ; Judith A. BADNER, Auteur ; Chunyu LIU, Auteur ; Edwin H. Jr COOK, Auteur ; James S. SUTCLIFFE, Auteur ; Nancy J. COX, Auteur . - 2012 . - 25 p.
Langues : Anglais (eng)
in Molecular Autism > (May 2012) . - 25 p.
Index. décimale : PER Périodiques Résumé : Background
Autism spectrum disorder is a severe early onset neurodevelopmental disorder with high heritability but significant heterogeneity. Traditional genome-wide approaches to test for an association of common variants with autism susceptibility risk have met with limited success. However, novel methods to identify moderate risk alleles in attainable sample sizes are now gaining momentum.
Methods
In this study, we utilized publically available genome-wide association study data from the Autism Genome Project and annotated the results (P <0.001) for expression quantitative trait loci present in the parietal lobe (GSE35977), cerebellum (GSE35974) and lymphoblastoid cell lines (GSE7761). We then performed a test of enrichment by comparing these results to simulated data conditioned on minor allele frequency to generate an empirical P-value indicating statistically significant enrichment of expression quantitative trait loci in top results from the autism genome-wide association study.
Results
Our findings show a global enrichment of brain expression quantitative trait loci, but not lymphoblastoid cell line expression quantitative trait loci, among top single nucleotide polymorphisms from an autism genome-wide association study. Additionally, the data implicates individual genes SLC25A12, PANX1 and PANX2 as well as pathways previously implicated in autism.
Conclusions
These findings provide supportive rationale for the use of annotation-based approaches to genome-wide association studies.En ligne : http://dx.doi.org/10.1186/2040-2392-3-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=178 Measuring Anxiety as a Treatment Endpoint in Youth with Autism Spectrum Disorder / Luc LECAVALIER in Journal of Autism and Developmental Disorders, 44-5 (May 2014)
[article]
Titre : Measuring Anxiety as a Treatment Endpoint in Youth with Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Luc LECAVALIER, Auteur ; Jeffrey J. WOOD, Auteur ; Alycia K. HALLADAY, Auteur ; Nancy E. JONES, Auteur ; Michael G. AMAN, Auteur ; Edwin H. Jr COOK, Auteur ; Benjamin L. HANDEN, Auteur ; Bryan H. KING, Auteur ; Deborah A. PEARSON, Auteur ; Victoria HALLETT, Auteur ; Katherine Anne SULLIVAN, Auteur ; Sabrina N. GRONDHUIS, Auteur ; Somer L. BISHOP, Auteur ; Joseph P. HORRIGAN, Auteur ; Geraldine DAWSON, Auteur ; Lawrence SCAHILL, Auteur Année de publication : 2014 Article en page(s) : p.1128-1143 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Anxiety Instrument Measure Assessment Treatment Intervention Index. décimale : PER Périodiques Résumé : Despite the high rate of anxiety in individuals with autism spectrum disorder (ASD), measuring anxiety in ASD is fraught with uncertainty. This is due, in part, to incomplete consensus on the manifestations of anxiety in this population. Autism Speaks assembled a panel of experts to conduct a systematic review of available measures for anxiety in youth with ASD. To complete the review, the panel held monthly conference calls and two face-to-face meetings over a fourteen-month period. Thirty eight published studies were reviewed and ten assessment measures were examined: four were deemed appropriate for use in clinical trials, although with conditions; three were judged to be potentially appropriate, while three were considered not useful for clinical trials assessing anxiety. Despite recent advances, additional relevant, reliable and valid outcome measures are needed to evaluate treatments for anxiety in ASD. En ligne : http://dx.doi.org/10.1007/s10803-013-1974-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=232
in Journal of Autism and Developmental Disorders > 44-5 (May 2014) . - p.1128-1143[article] Measuring Anxiety as a Treatment Endpoint in Youth with Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Luc LECAVALIER, Auteur ; Jeffrey J. WOOD, Auteur ; Alycia K. HALLADAY, Auteur ; Nancy E. JONES, Auteur ; Michael G. AMAN, Auteur ; Edwin H. Jr COOK, Auteur ; Benjamin L. HANDEN, Auteur ; Bryan H. KING, Auteur ; Deborah A. PEARSON, Auteur ; Victoria HALLETT, Auteur ; Katherine Anne SULLIVAN, Auteur ; Sabrina N. GRONDHUIS, Auteur ; Somer L. BISHOP, Auteur ; Joseph P. HORRIGAN, Auteur ; Geraldine DAWSON, Auteur ; Lawrence SCAHILL, Auteur . - 2014 . - p.1128-1143.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 44-5 (May 2014) . - p.1128-1143
Mots-clés : Autism spectrum disorder Anxiety Instrument Measure Assessment Treatment Intervention Index. décimale : PER Périodiques Résumé : Despite the high rate of anxiety in individuals with autism spectrum disorder (ASD), measuring anxiety in ASD is fraught with uncertainty. This is due, in part, to incomplete consensus on the manifestations of anxiety in this population. Autism Speaks assembled a panel of experts to conduct a systematic review of available measures for anxiety in youth with ASD. To complete the review, the panel held monthly conference calls and two face-to-face meetings over a fourteen-month period. Thirty eight published studies were reviewed and ten assessment measures were examined: four were deemed appropriate for use in clinical trials, although with conditions; three were judged to be potentially appropriate, while three were considered not useful for clinical trials assessing anxiety. Despite recent advances, additional relevant, reliable and valid outcome measures are needed to evaluate treatments for anxiety in ASD. En ligne : http://dx.doi.org/10.1007/s10803-013-1974-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=232 Measuring repetitive behaviors as a treatment endpoint in youth with autism spectrum disorder / Lawrence SCAHILL in Autism, 19-1 (January 2015)
[article]
Titre : Measuring repetitive behaviors as a treatment endpoint in youth with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Lawrence SCAHILL, Auteur ; Michael G. AMAN, Auteur ; Luc LECAVALIER, Auteur ; Alycia K. HALLADAY, Auteur ; Somer L. BISHOP, Auteur ; James W. BODFISH, Auteur ; Sabrina GRONDHUIS, Auteur ; Nancy JONES, Auteur ; Joseph P. HORRIGAN, Auteur ; Edwin H. Jr COOK, Auteur ; Benjamin L. HANDEN, Auteur ; Bryan H. KING, Auteur ; Deborah A. PEARSON, Auteur ; James T. MCCRACKEN, Auteur ; Katherine Anne SULLIVAN, Auteur ; Geraldine DAWSON, Auteur Année de publication : 2015 Article en page(s) : p.38-52 Langues : Anglais (eng) Mots-clés : Assessment autism spectrum disorders instrument intervention repetitive behavior restricted interests measure treatment; Index. décimale : PER Périodiques Résumé : Restricted interests and repetitive behaviors vary widely in type, frequency, and intensity among children and adolescents with autism spectrum disorder. They can be stigmatizing and interfere with more constructive activities. Accordingly, restricted interests and repetitive behaviors may be a target of intervention. Several standardized instruments have been developed to assess restricted interests and repetitive behaviors in the autism spectrum disorder population, but the rigor of psychometric assessment is variable. This article evaluated the readiness of available measures for use as outcome measures in clinical trials. The Autism Speaks Foundation assembled a panel of experts to examine available instruments used to measure restricted interests and repetitive behaviors in youth with autism spectrum disorder. The panel held monthly conference calls and two face-to-face meetings over 14 months to develop and apply evaluative criteria for available instruments. Twenty-four instruments were evaluated and five were considered “appropriate with conditions” for use as outcome measures in clinical trials. Ideally, primary outcome measures should be relevant to the clinical target, be reliable and valid, and cover the symptom domain without being burdensome to subjects. The goal of the report was to promote consensus across funding agencies, pharmaceutical companies, and clinical investigators about advantages and disadvantages of existing outcome measures. En ligne : http://dx.doi.org/10.1177/1362361313510069 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=245
in Autism > 19-1 (January 2015) . - p.38-52[article] Measuring repetitive behaviors as a treatment endpoint in youth with autism spectrum disorder [Texte imprimé et/ou numérique] / Lawrence SCAHILL, Auteur ; Michael G. AMAN, Auteur ; Luc LECAVALIER, Auteur ; Alycia K. HALLADAY, Auteur ; Somer L. BISHOP, Auteur ; James W. BODFISH, Auteur ; Sabrina GRONDHUIS, Auteur ; Nancy JONES, Auteur ; Joseph P. HORRIGAN, Auteur ; Edwin H. Jr COOK, Auteur ; Benjamin L. HANDEN, Auteur ; Bryan H. KING, Auteur ; Deborah A. PEARSON, Auteur ; James T. MCCRACKEN, Auteur ; Katherine Anne SULLIVAN, Auteur ; Geraldine DAWSON, Auteur . - 2015 . - p.38-52.
Langues : Anglais (eng)
in Autism > 19-1 (January 2015) . - p.38-52
Mots-clés : Assessment autism spectrum disorders instrument intervention repetitive behavior restricted interests measure treatment; Index. décimale : PER Périodiques Résumé : Restricted interests and repetitive behaviors vary widely in type, frequency, and intensity among children and adolescents with autism spectrum disorder. They can be stigmatizing and interfere with more constructive activities. Accordingly, restricted interests and repetitive behaviors may be a target of intervention. Several standardized instruments have been developed to assess restricted interests and repetitive behaviors in the autism spectrum disorder population, but the rigor of psychometric assessment is variable. This article evaluated the readiness of available measures for use as outcome measures in clinical trials. The Autism Speaks Foundation assembled a panel of experts to examine available instruments used to measure restricted interests and repetitive behaviors in youth with autism spectrum disorder. The panel held monthly conference calls and two face-to-face meetings over 14 months to develop and apply evaluative criteria for available instruments. Twenty-four instruments were evaluated and five were considered “appropriate with conditions” for use as outcome measures in clinical trials. Ideally, primary outcome measures should be relevant to the clinical target, be reliable and valid, and cover the symptom domain without being burdensome to subjects. The goal of the report was to promote consensus across funding agencies, pharmaceutical companies, and clinical investigators about advantages and disadvantages of existing outcome measures. En ligne : http://dx.doi.org/10.1177/1362361313510069 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=245 Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15q11.2, Specifically Breakpoints 1 to 2 / Pauline CHASTE in Autism Research, 7-3 (June 2014)
[article]
Titre : Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15q11.2, Specifically Breakpoints 1 to 2 Type de document : Texte imprimé et/ou numérique Auteurs : Pauline CHASTE, Auteur ; Stephan J. SANDERS, Auteur ; Kommu N. MOHAN, Auteur ; Lambertus KLEI, Auteur ; Youeun SONG, Auteur ; Michael T. MURTHA, Auteur ; Vanessa HUS, Auteur ; Jennifer K. LOWE, Auteur ; A. Jeremy WILLSEY, Auteur ; Daniel MORENO-DE-LUCA, Auteur ; Timothy W. YU, Auteur ; Eric FOMBONNE, Auteur ; Daniel GESCHWIND, Auteur ; Dorothy E. GRICE, Auteur ; David H. LEDBETTER, Auteur ; Catherine LORD, Auteur ; Shrikant M. MANE, Auteur ; Donna M. MARTIN, Auteur ; Eric M. MORROW, Auteur ; Christopher A. WALSH, Auteur ; James S. SUTCLIFFE, Auteur ; Matthew W. STATE, Auteur ; Christa Lese MARTIN, Auteur ; Bernie DEVLIN, Auteur ; Arthur L. BEAUDET, Auteur ; Edwin H. Jr COOK, Auteur ; Soo-Jeong KIM, Auteur Article en page(s) : p.355-362 Langues : Anglais (eng) Mots-clés : 15q11.2 deletion duplication penetrance autism Index. décimale : PER Périodiques Résumé : The proximal region of chromosome 15 is one of the genomic hotspots for copy number variants (CNVs). Among the rearrangements observed in this region, CNVs from the interval between the common breakpoints 1 and 2 (BP1 and BP2) have been reported cosegregating with autism spectrum disorder (ASD). Although evidence supporting an association between BP1-BP2 CNVs and autism accumulates, the magnitude of the effect of BP1-BP2 CNVs remains elusive, posing a great challenge to recurrence-risk counseling. To gain further insight into their pathogenicity for ASD, we estimated the penetrance of the BP1-BP2 CNVs for ASD as well as their effects on ASD-related phenotypes in a well-characterized ASD sample (n?=?2525 families). Transmission disequilibrium test revealed significant preferential transmission only for the duplicated chromosome in probands (20T:9NT). The penetrance of the BP1-BP2 CNVs for ASD was low, conferring additional risks of 0.3% (deletion) and 0.8% (duplication). Stepwise regression analyses suggest a greater effect of the CNVs on ASD-related phenotype in males and when maternally inherited. Taken together, the results are consistent with BP1-BP2 CNVs as risk factors for autism. However, their effect is modest, more akin to that seen for common variants. To be consistent with the current American College of Medical Genetics guidelines for interpretation of postnatal CNV, the BP1-BP2 deletion and duplication CNVs would probably best be classified as variants of uncertain significance (VOUS): they appear to have an impact on risk, but one so modest that these CNVs do not merit pathogenic status. Autism Res 2014, 7: 355–362. © 2014 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1378 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=235
in Autism Research > 7-3 (June 2014) . - p.355-362[article] Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15q11.2, Specifically Breakpoints 1 to 2 [Texte imprimé et/ou numérique] / Pauline CHASTE, Auteur ; Stephan J. SANDERS, Auteur ; Kommu N. MOHAN, Auteur ; Lambertus KLEI, Auteur ; Youeun SONG, Auteur ; Michael T. MURTHA, Auteur ; Vanessa HUS, Auteur ; Jennifer K. LOWE, Auteur ; A. Jeremy WILLSEY, Auteur ; Daniel MORENO-DE-LUCA, Auteur ; Timothy W. YU, Auteur ; Eric FOMBONNE, Auteur ; Daniel GESCHWIND, Auteur ; Dorothy E. GRICE, Auteur ; David H. LEDBETTER, Auteur ; Catherine LORD, Auteur ; Shrikant M. MANE, Auteur ; Donna M. MARTIN, Auteur ; Eric M. MORROW, Auteur ; Christopher A. WALSH, Auteur ; James S. SUTCLIFFE, Auteur ; Matthew W. STATE, Auteur ; Christa Lese MARTIN, Auteur ; Bernie DEVLIN, Auteur ; Arthur L. BEAUDET, Auteur ; Edwin H. Jr COOK, Auteur ; Soo-Jeong KIM, Auteur . - p.355-362.
Langues : Anglais (eng)
in Autism Research > 7-3 (June 2014) . - p.355-362
Mots-clés : 15q11.2 deletion duplication penetrance autism Index. décimale : PER Périodiques Résumé : The proximal region of chromosome 15 is one of the genomic hotspots for copy number variants (CNVs). Among the rearrangements observed in this region, CNVs from the interval between the common breakpoints 1 and 2 (BP1 and BP2) have been reported cosegregating with autism spectrum disorder (ASD). Although evidence supporting an association between BP1-BP2 CNVs and autism accumulates, the magnitude of the effect of BP1-BP2 CNVs remains elusive, posing a great challenge to recurrence-risk counseling. To gain further insight into their pathogenicity for ASD, we estimated the penetrance of the BP1-BP2 CNVs for ASD as well as their effects on ASD-related phenotypes in a well-characterized ASD sample (n?=?2525 families). Transmission disequilibrium test revealed significant preferential transmission only for the duplicated chromosome in probands (20T:9NT). The penetrance of the BP1-BP2 CNVs for ASD was low, conferring additional risks of 0.3% (deletion) and 0.8% (duplication). Stepwise regression analyses suggest a greater effect of the CNVs on ASD-related phenotype in males and when maternally inherited. Taken together, the results are consistent with BP1-BP2 CNVs as risk factors for autism. However, their effect is modest, more akin to that seen for common variants. To be consistent with the current American College of Medical Genetics guidelines for interpretation of postnatal CNV, the BP1-BP2 deletion and duplication CNVs would probably best be classified as variants of uncertain significance (VOUS): they appear to have an impact on risk, but one so modest that these CNVs do not merit pathogenic status. Autism Res 2014, 7: 355–362. © 2014 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1378 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=235 Multiparameter Classification Approach to Structural Neuroimaging Data; Heterogeneity of 16p11.2 Microdeletion Clinical Presentation / Edwin H. Jr COOK in Autism Research, 3-5 (October 2010)
PermalinkDe novo autosomal dominant mutation in SYNGAP1 / Edwin H. Jr COOK in Autism Research, 4-2 (April 2011)
PermalinkParental Broader Autism Subphenotypes in ASD Affected Families: Relationship to Gender, Child's Symptoms, SSRI Treatment, and Platelet Serotonin / Tal LEVIN-DECANINI in Autism Research, 6-6 (December 2013)
PermalinkA pharmacogenetic study of escitalopram in autism spectrum disorders / Thomas OWLEY in Autism Research, 3-1 (February 2010)
PermalinkA quantitative association study of SLC25A12 and restricted repetitive behavior traits in autism spectrum disorders / Soo-Jeong KIM in Molecular Autism, (May 2011)
PermalinkReduction of increased repetitive self-grooming in ASD mouse model by metabotropic 5 glutamate receptor antagonism; randomized controlled trial of early start denver model / Edwin H. Jr COOK in Autism Research, 3-1 (February 2010)
PermalinkRepetitive behavior profiles: Consistency across autism spectrum disorder cohorts and divergence from Prader-Willi syndrome / C. G. FLORES in Journal of Neurodevelopmental Disorders, 3-4 (December 2011)
PermalinkSaccadic eye movement abnormalities in autism spectrum disorder indicate dysfunctions in cerebellum and brainstem / Lauren M. SCHMITT in Molecular Autism, (September 2014)
PermalinkThe Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses / Joseph D. BUXBAUM in Molecular Autism, (May 2014)
PermalinkTraining of child and adolescent psychiatry fellows in autism and intellectual disability / Natasha MARRUS in Autism, 18-4 (May 2014)
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