Dépouillements

Novel clustering of items from the Autism Diagnostic Interview-Revised to define phenotypes within autism spectrum disorders / Valerie W. HU in Autism Research, 2-2 (April 2009)  

Public ISBD [article]  inAutism Research > 2-2 (April 2009) . - p.67-77 Titre : Novel clustering of items from the Autism Diagnostic Interview-Revised to define phenotypes within autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Valerie W. HU, Auteur ; Mara E. STEINBERG, Auteur Année de publication : 2009 Article en page(s) : p.67-77 Langues : Anglais (eng) Mots-clés : ADI-R multivariate-cluster-analyses ASD-phenotypes Index. décimale : PER Périodiques Résumé : Heterogeneity in phenotypic presentation of Autism spectrum disorders has been cited as one explanation for the difficulty in pinpointing specific genes involved in autism. Recent studies have attempted to reduce the noise in genetic and other biological data by reducing the phenotypic heterogeneity of the sample population. The current study employs multiple clustering algorithms on 123 item scores from the Autism Diagnostic Interview - Revised (ADI-R) diagnostic instrument of nearly 2,000 autistic individuals to identify subgroups of autistic probands with clinically relevant behavioral phenotypes in order to isolate more homogeneous groups of subjects for gene expression analyses. Our combined cluster analyses suggest optimal division of the autistic probands into four phenotypic clusters based on similarity of symptom severity across the 123 selected item scores. One cluster is characterized by severe language deficits, while another exhibits milder symptoms across the domains. A third group possesses a higher frequency of savant skills while the fourth group exhibited intermediate severity across all domains. Grouping autistic individuals by multivariate cluster analysis of ADI-R scores reveals meaningful phenotypes of subgroups within the autistic spectrum, which we show, in a related (accompanying) study, to be associated with distinct gene expression profiles. En ligne : http://dx.doi.org/10.1002/aur.72 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=936 [article] Novel clustering of items from the Autism Diagnostic Interview-Revised to define phenotypes within autism spectrum disorders [Texte imprimé et/ou numérique] / Valerie W. HU, Auteur ; Mara E. STEINBERG, Auteur . - 2009 . - p.67-77. Langues : Anglais (eng) in Autism Research > 2-2 (April 2009) . - p.67-77 Mots-clés : ADI-R multivariate-cluster-analyses ASD-phenotypes Index. décimale : PER Périodiques Résumé : Heterogeneity in phenotypic presentation of Autism spectrum disorders has been cited as one explanation for the difficulty in pinpointing specific genes involved in autism. Recent studies have attempted to reduce the noise in genetic and other biological data by reducing the phenotypic heterogeneity of the sample population. The current study employs multiple clustering algorithms on 123 item scores from the Autism Diagnostic Interview - Revised (ADI-R) diagnostic instrument of nearly 2,000 autistic individuals to identify subgroups of autistic probands with clinically relevant behavioral phenotypes in order to isolate more homogeneous groups of subjects for gene expression analyses. Our combined cluster analyses suggest optimal division of the autistic probands into four phenotypic clusters based on similarity of symptom severity across the 123 selected item scores. One cluster is characterized by severe language deficits, while another exhibits milder symptoms across the domains. A third group possesses a higher frequency of savant skills while the fourth group exhibited intermediate severity across all domains. Grouping autistic individuals by multivariate cluster analysis of ADI-R scores reveals meaningful phenotypes of subgroups within the autistic spectrum, which we show, in a related (accompanying) study, to be associated with distinct gene expression profiles. En ligne : http://dx.doi.org/10.1002/aur.72 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=936

Gene expression profiling differentiates autism case-controls and phenotypic variants of autism spectrum disorders: evidence for circadian rhythm dysfunction in severe autism / Valerie W. HU in Autism Research, 2-2 (April 2009)  

Public ISBD [article]  inAutism Research > 2-2 (April 2009) . - p.78-97 Titre : Gene expression profiling differentiates autism case-controls and phenotypic variants of autism spectrum disorders: evidence for circadian rhythm dysfunction in severe autism Type de document : Texte imprimé et/ou numérique Auteurs : Valerie W. HU, Auteur ; Mara E. STEINBERG, Auteur ; Tewarit SARACHANA, Auteur ; Kyung Soon KIM, Auteur ; AnhThu NGUYEN, Auteur ; Shreya KULKARNI, Auteur ; Truong LUU, Auteur ; Yinglei LAI, Auteur ; Norman H. LEE, Auteur Année de publication : 2009 Article en page(s) : p.78-97 Langues : Anglais (eng) Mots-clés : autism-phenotypes gene-expression-profiling circadian-rhythm novel-genes Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASD) are neurodevelopmental disorders characterized by delayed/abnormal language development, deficits in social interaction, repetitive behaviors and restricted interests. The heterogeneity in clinical presentation of ASD, likely due to different etiologies, complicates genetic/biological analyses of these disorders. DNA microarray analyses were conducted on 116 lymphoblastoid cell lines (LCL) from individuals with idiopathic autism who are divided into three phenotypic subgroups according to severity scores from the commonly used Autism Diagnostic Interview-Revised questionnaire and age-matched, nonautistic controls. Statistical analyses of gene expression data from control LCL against that of LCL from ASD probands identify genes for which expression levels are either quantitatively or qualitatively associated with phenotypic severity. Comparison of the significant differentially expressed genes from each subgroup relative to the control group reveals differentially expressed genes unique to each subgroup as well as genes in common across subgroups. Among the findings unique to the most severely affected ASD group are 15 genes that regulate circadian rhythm, which has been shown to have multiple effects on neurological as well as metabolic functions commonly dysregulated in autism. Among the genes common to all three subgroups of ASD are 20 novel genes mostly in putative noncoding regions, which appear to associate with androgen sensitivity and which may underlie the strong 4:1 bias toward affected males. En ligne : http://dx.doi.org/10.1002/aur.73 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=936 [article] Gene expression profiling differentiates autism case-controls and phenotypic variants of autism spectrum disorders: evidence for circadian rhythm dysfunction in severe autism [Texte imprimé et/ou numérique] / Valerie W. HU, Auteur ; Mara E. STEINBERG, Auteur ; Tewarit SARACHANA, Auteur ; Kyung Soon KIM, Auteur ; AnhThu NGUYEN, Auteur ; Shreya KULKARNI, Auteur ; Truong LUU, Auteur ; Yinglei LAI, Auteur ; Norman H. LEE, Auteur . - 2009 . - p.78-97. Langues : Anglais (eng) in Autism Research > 2-2 (April 2009) . - p.78-97 Mots-clés : autism-phenotypes gene-expression-profiling circadian-rhythm novel-genes Index. décimale : PER Périodiques Résumé : Autism spectrum disorders (ASD) are neurodevelopmental disorders characterized by delayed/abnormal language development, deficits in social interaction, repetitive behaviors and restricted interests. The heterogeneity in clinical presentation of ASD, likely due to different etiologies, complicates genetic/biological analyses of these disorders. DNA microarray analyses were conducted on 116 lymphoblastoid cell lines (LCL) from individuals with idiopathic autism who are divided into three phenotypic subgroups according to severity scores from the commonly used Autism Diagnostic Interview-Revised questionnaire and age-matched, nonautistic controls. Statistical analyses of gene expression data from control LCL against that of LCL from ASD probands identify genes for which expression levels are either quantitatively or qualitatively associated with phenotypic severity. Comparison of the significant differentially expressed genes from each subgroup relative to the control group reveals differentially expressed genes unique to each subgroup as well as genes in common across subgroups. Among the findings unique to the most severely affected ASD group are 15 genes that regulate circadian rhythm, which has been shown to have multiple effects on neurological as well as metabolic functions commonly dysregulated in autism. Among the genes common to all three subgroups of ASD are 20 novel genes mostly in putative noncoding regions, which appear to associate with androgen sensitivity and which may underlie the strong 4:1 bias toward affected males. En ligne : http://dx.doi.org/10.1002/aur.73 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=936

The MTHFR 677CT polymorphism and behaviors in children with autism: exploratory genotype-phenotype correlations / Robin P. GOIN-KOCHEL in Autism Research, 2-2 (April 2009)  

Public ISBD [article]  inAutism Research > 2-2 (April 2009) . - p.98-108 Titre : The MTHFR 677CT polymorphism and behaviors in children with autism: exploratory genotype-phenotype correlations Type de document : Texte imprimé et/ou numérique Auteurs : Robin P. GOIN-KOCHEL, Auteur ; Sarika U. PETERS, Auteur ; Trilochan SAHOO, Auteur ; Anne E. PORTER, Auteur ; Marwan SHINAWI, Auteur ; Arthur L. BEAUDET, Auteur Année de publication : 2009 Article en page(s) : p.98-108 Langues : Anglais (eng) Mots-clés : epigenetics genetics regression clinical-psychology Index. décimale : PER Périodiques Résumé : New evidence suggests that autism may be associated with (a) varied behavioral responses to folate therapy and (b) metabolic anomalies, including those in folate metabolism, that contribute to hypomethylation of DNA. We hypothesized that children with autism who are homozygous for the MTHFR 677 T allele (TT) and, to a lesser extent those with the CT variant, would exhibit more behavioral problems and/or more severe problematic behaviors than homozygous wild-type (CC) individuals because of difficulties in effectively converting 5,10-MTHF to 5-MTHF. Data from the Autism Genetic Resource Exchange (AGRE) collection were analyzed for all children who met strict criteria for autism per the Autism Diagnostic Interview - Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS) and who had been genotyped for the 677 C to T MTHFR polymorphism (n=147). Chi-square tests, logistic regression, and one-way ANOVAs were used to determine whether differences existed among MTHFR genotypes for specific behaviors on the ADI-R and indices for level of functioning. Exploratory results indicated four behaviors from the ADI-R that were more common and problematic (95% CI) among those with at least one copy of the T allele as compared to homozygous wild-type individuals: direct gaze, current complex body movements, a history of self-injurious behavior, and current overactivity (ORs=2.72, 2.33, 2.12, 2.47, respectively). No differences existed among genotypes for level of functioning as measured with the Peabody Picture Vocabulary Test - Third Edition, Ravens Colored Progressive Matrices, or the Vineland Adaptive Behavior Scales. Findings call for further investigation of the relationship between folate metabolism and problem behaviors among children with autism. En ligne : http://dx.doi.org/10.1002/aur.70 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=936 [article] The MTHFR 677CT polymorphism and behaviors in children with autism: exploratory genotype-phenotype correlations [Texte imprimé et/ou numérique] / Robin P. GOIN-KOCHEL, Auteur ; Sarika U. PETERS, Auteur ; Trilochan SAHOO, Auteur ; Anne E. PORTER, Auteur ; Marwan SHINAWI, Auteur ; Arthur L. BEAUDET, Auteur . - 2009 . - p.98-108. Langues : Anglais (eng) in Autism Research > 2-2 (April 2009) . - p.98-108 Mots-clés : epigenetics genetics regression clinical-psychology Index. décimale : PER Périodiques Résumé : New evidence suggests that autism may be associated with (a) varied behavioral responses to folate therapy and (b) metabolic anomalies, including those in folate metabolism, that contribute to hypomethylation of DNA. We hypothesized that children with autism who are homozygous for the MTHFR 677 T allele (TT) and, to a lesser extent those with the CT variant, would exhibit more behavioral problems and/or more severe problematic behaviors than homozygous wild-type (CC) individuals because of difficulties in effectively converting 5,10-MTHF to 5-MTHF. Data from the Autism Genetic Resource Exchange (AGRE) collection were analyzed for all children who met strict criteria for autism per the Autism Diagnostic Interview - Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS) and who had been genotyped for the 677 C to T MTHFR polymorphism (n=147). Chi-square tests, logistic regression, and one-way ANOVAs were used to determine whether differences existed among MTHFR genotypes for specific behaviors on the ADI-R and indices for level of functioning. Exploratory results indicated four behaviors from the ADI-R that were more common and problematic (95% CI) among those with at least one copy of the T allele as compared to homozygous wild-type individuals: direct gaze, current complex body movements, a history of self-injurious behavior, and current overactivity (ORs=2.72, 2.33, 2.12, 2.47, respectively). No differences existed among genotypes for level of functioning as measured with the Peabody Picture Vocabulary Test - Third Edition, Ravens Colored Progressive Matrices, or the Vineland Adaptive Behavior Scales. Findings call for further investigation of the relationship between folate metabolism and problem behaviors among children with autism. En ligne : http://dx.doi.org/10.1002/aur.70 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=936

Twenty-year outcome for individuals with autism and average or near-average cognitive abilities / Megan A. FARLEY in Autism Research, 2-2 (April 2009)  

Public ISBD [article]  inAutism Research > 2-2 (April 2009) . - p.109-118 Titre : Twenty-year outcome for individuals with autism and average or near-average cognitive abilities Type de document : Texte imprimé et/ou numérique Auteurs : Megan A. FARLEY, Auteur ; Eric FOMBONNE, Auteur ; William M. MCMAHON, Auteur ; Edward R. RITVO, Auteur ; Judith N. MILLER, Auteur ; William R. JENSON, Auteur ; Michael GARDNER, Auteur ; Heidi BLOCK, Auteur ; Carmen B. PINGREE, Auteur Année de publication : 2009 Article en page(s) : p.109-118 Langues : Anglais (eng) Mots-clés : autism adult outcome longitudinal Index. décimale : PER Périodiques Résumé : Previous studies found substantial variability in adult outcome for people with autism whose cognitive functioning was within the near-average and average ranges. This study examined adult outcome for 41 such individuals (38 men and 3 women) originally identified through an epidemiological survey of autism in Utah. Mean age at the time of their previous cognitive assessment was 7.2 years (SD=4.1, range=3.1-25.9 years) and at follow-up was 32.5 years (SD=5.7 years, range=22.3-46.4 years). Outcome measures included standardized assessments of diagnostic status, cognitive ability, and adaptive behavior. Additional information collected concerned demographic variables, indicators of independence, social relationships, medical and psychiatric conditions, and social service use. Outcomes for this sample were better than outcomes described in previous work on individuals with similar cognitive functioning. For example, half of the participants were rated as Very Good or Good on a global outcome measure. As in previous studies, there was considerable variability in measured cognitive ability over time. Over half of the sample had large gains or losses of cognitive ability of greater than 1 standard deviation. Cognitive gain was associated with better outcome, as was better adaptive functioning. While all participants had baseline IQs in the nonimpaired range, there was limited evidence to support the use of other early childhood variables to predict adult outcome. En ligne : http://dx.doi.org/10.1002/aur.69 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=936 [article] Twenty-year outcome for individuals with autism and average or near-average cognitive abilities [Texte imprimé et/ou numérique] / Megan A. FARLEY, Auteur ; Eric FOMBONNE, Auteur ; William M. MCMAHON, Auteur ; Edward R. RITVO, Auteur ; Judith N. MILLER, Auteur ; William R. JENSON, Auteur ; Michael GARDNER, Auteur ; Heidi BLOCK, Auteur ; Carmen B. PINGREE, Auteur . - 2009 . - p.109-118. Langues : Anglais (eng) in Autism Research > 2-2 (April 2009) . - p.109-118 Mots-clés : autism adult outcome longitudinal Index. décimale : PER Périodiques Résumé : Previous studies found substantial variability in adult outcome for people with autism whose cognitive functioning was within the near-average and average ranges. This study examined adult outcome for 41 such individuals (38 men and 3 women) originally identified through an epidemiological survey of autism in Utah. Mean age at the time of their previous cognitive assessment was 7.2 years (SD=4.1, range=3.1-25.9 years) and at follow-up was 32.5 years (SD=5.7 years, range=22.3-46.4 years). Outcome measures included standardized assessments of diagnostic status, cognitive ability, and adaptive behavior. Additional information collected concerned demographic variables, indicators of independence, social relationships, medical and psychiatric conditions, and social service use. Outcomes for this sample were better than outcomes described in previous work on individuals with similar cognitive functioning. For example, half of the participants were rated as Very Good or Good on a global outcome measure. As in previous studies, there was considerable variability in measured cognitive ability over time. Over half of the sample had large gains or losses of cognitive ability of greater than 1 standard deviation. Cognitive gain was associated with better outcome, as was better adaptive functioning. While all participants had baseline IQs in the nonimpaired range, there was limited evidence to support the use of other early childhood variables to predict adult outcome. En ligne : http://dx.doi.org/10.1002/aur.69 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=936

Habituation to neutral faces; Language regression in ASD / Edwin H. Jr COOK in Autism Research, 2-2 (April 2009)  

Public ISBD [article]  inAutism Research > 2-2 (April 2009) . - p.119-120 Titre : Habituation to neutral faces; Language regression in ASD Type de document : Texte imprimé et/ou numérique Auteurs : Edwin H. Jr COOK, Auteur Année de publication : 2009 Article en page(s) : p.119-120 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.75 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=936 [article] Habituation to neutral faces; Language regression in ASD [Texte imprimé et/ou numérique] / Edwin H. Jr COOK, Auteur . - 2009 . - p.119-120. Langues : Anglais (eng) in Autism Research > 2-2 (April 2009) . - p.119-120 Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.75 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=936

Lay abstracts in Autism Research, 2-2 (April 2009)  

Public ISBD [article]  inAutism Research > 2-2 (April 2009) . - p.121-122 Titre : Lay abstracts Type de document : Texte imprimé et/ou numérique Année de publication : 2009 Article en page(s) : p.121-122 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.74 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=936 [article] Lay abstracts [Texte imprimé et/ou numérique] . - 2009 . - p.121-122. Langues : Anglais (eng) in Autism Research > 2-2 (April 2009) . - p.121-122 Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.74 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=936

International Society for Autism Research News in Autism Research, 2-2 (April 2009)  

Public ISBD [article]  inAutism Research > 2-2 (April 2009) . - p.123 Titre : International Society for Autism Research News Type de document : Texte imprimé et/ou numérique Année de publication : 2009 Article en page(s) : p.123 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.76 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=936 [article] International Society for Autism Research News [Texte imprimé et/ou numérique] . - 2009 . - p.123. Langues : Anglais (eng) in Autism Research > 2-2 (April 2009) . - p.123 Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1002/aur.76 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=936