Association of GTF2i in the Williams-Beuren Syndrome Critical Region with Autism Spectrum Disorders / Patrick MALENFANT in Journal of Autism and Developmental Disorders, 42-7 (July 2012)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 42-7 (July 2012) . - p.1459-1469 Titre : Association of GTF2i in the Williams-Beuren Syndrome Critical Region with Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Patrick MALENFANT, Auteur ; Xudong LIU, Auteur ; Melissa HUDSON, Auteur ; Ying QIAO, Auteur ; Monica HRYNCHAK, Auteur ; Noémie RIENDEAU, Auteur ; M. Jeannette HILDEBRAND, Auteur ; Ira L. COHEN, Auteur ; Albert E. CHUDLEY, Auteur ; Cynthia FORSTER-GIBSON, Auteur ; Elizabeth C.R. MICKELSON, Auteur ; Evica RAJEAN-SEPAROVIC, Auteur ; M. E. Suzanne LEWIS, Auteur ; Jeanette J. A. HOLDEN, Auteur Année de publication : 2012 Article en page(s) : p.1459-1469 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorders (ASDs)  Gene association  GTF2i gene  7q11.23 duplication  Williams-Beuren Syndrome (WBS) Index. décimale : PER Périodiques Résumé : Duplications of 7q11.23, deleted in Williams-Beuren Syndrome, have been implicated in autism spectrum disorders (ASDs). A 1.5 Mb duplication was identified in one girl with severe expressive language deficits and anxiety among 1,142 ASD individuals screened for this duplication. Family-based association studies of Tag-SNPs in three genes (STX1A , CYLN2 and GTF2i) in two multiplex autism family cohorts revealed strong association of two GTF2i SNPs and their haplotype in Cohort 1 and the combined families. The risk alleles and haplotype were associated with severe problems in social interaction and excessive repetitive behaviors. Our findings suggest the GTF2i gene is important in the etiology of autism in individuals with this duplication and in non-duplication cases with severe social interaction problems and repetitive behaviors. En ligne : http://dx.doi.org/10.1007/s10803-011-1389-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=166 [article] Association of GTF2i in the Williams-Beuren Syndrome Critical Region with Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Patrick MALENFANT, Auteur ; Xudong LIU, Auteur ; Melissa HUDSON, Auteur ; Ying QIAO, Auteur ; Monica HRYNCHAK, Auteur ; Noémie RIENDEAU, Auteur ; M. Jeannette HILDEBRAND, Auteur ; Ira L. COHEN, Auteur ; Albert E. CHUDLEY, Auteur ; Cynthia FORSTER-GIBSON, Auteur ; Elizabeth C.R. MICKELSON, Auteur ; Evica RAJEAN-SEPAROVIC, Auteur ; M. E. Suzanne LEWIS, Auteur ; Jeanette J. A. HOLDEN, Auteur . - 2012 . - p.1459-1469. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 42-7 (July 2012) . - p.1459-1469 Mots-clés : Autism Spectrum Disorders (ASDs)  Gene association  GTF2i gene  7q11.23 duplication  Williams-Beuren Syndrome (WBS) Index. décimale : PER Périodiques Résumé : Duplications of 7q11.23, deleted in Williams-Beuren Syndrome, have been implicated in autism spectrum disorders (ASDs). A 1.5 Mb duplication was identified in one girl with severe expressive language deficits and anxiety among 1,142 ASD individuals screened for this duplication. Family-based association studies of Tag-SNPs in three genes (STX1A , CYLN2 and GTF2i) in two multiplex autism family cohorts revealed strong association of two GTF2i SNPs and their haplotype in Cohort 1 and the combined families. The risk alleles and haplotype were associated with severe problems in social interaction and excessive repetitive behaviors. Our findings suggest the GTF2i gene is important in the etiology of autism in individuals with this duplication and in non-duplication cases with severe social interaction problems and repetitive behaviors. En ligne : http://dx.doi.org/10.1007/s10803-011-1389-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=166

Brief Report: Telephone Administration of the Autism Diagnostic Interview—Revised: Reliability and Suitability for Use in Research / Jessica WARD-KING in Journal of Autism and Developmental Disorders, 40-10 (October 2010)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 40-10 (October 2010) . - p.1285-1290 Titre : Brief Report: Telephone Administration of the Autism Diagnostic Interview—Revised: Reliability and Suitability for Use in Research Type de document : Texte imprimé et/ou numérique Auteurs : Jessica WARD-KING, Auteur ; Jeanette J. A. HOLDEN, Auteur ; Ira L. COHEN, Auteur ; Henderika PENNING, Auteur Année de publication : 2010 Article en page(s) : p.1285-1290 Langues : Anglais (eng) Mots-clés : Autism-spectrum-disorders Autism-diagnostic-interview—revised Telephone-interview Reliability Index. décimale : PER Périodiques Résumé : The Autism Diagnostic Interview—Revised is one of the “gold standard” diagnostic tools for autism spectrum disorders. It is traditionally administered face-to-face. Cost and geographical concerns constrain the employment of the ADI-R for large-scale research projects. The telephone interview is a reasonable alternative, but has not yet been examined for reliability with face-to-face administration. In this study, participants were interviewed both face-to-face and on the telephone using the complete ADI-R interview. Results indicate that there was no significant difference between the algorithm scores or the diagnoses arrived at for face-to-face and telephone administrations. Reliability statistics across the two modalities were very good and indicate that telephone interviews using the ADI-R are a viable option for researchers. En ligne : http://dx.doi.org/10.1007/s10803-010-0987-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=111 [article] Brief Report: Telephone Administration of the Autism Diagnostic Interview—Revised: Reliability and Suitability for Use in Research [Texte imprimé et/ou numérique] / Jessica WARD-KING, Auteur ; Jeanette J. A. HOLDEN, Auteur ; Ira L. COHEN, Auteur ; Henderika PENNING, Auteur . - 2010 . - p.1285-1290. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 40-10 (October 2010) . - p.1285-1290 Mots-clés : Autism-spectrum-disorders Autism-diagnostic-interview—revised Telephone-interview Reliability Index. décimale : PER Périodiques Résumé : The Autism Diagnostic Interview—Revised is one of the “gold standard” diagnostic tools for autism spectrum disorders. It is traditionally administered face-to-face. Cost and geographical concerns constrain the employment of the ADI-R for large-scale research projects. The telephone interview is a reasonable alternative, but has not yet been examined for reliability with face-to-face administration. In this study, participants were interviewed both face-to-face and on the telephone using the complete ADI-R interview. Results indicate that there was no significant difference between the algorithm scores or the diagnoses arrived at for face-to-face and telephone administrations. Reliability statistics across the two modalities were very good and indicate that telephone interviews using the ADI-R are a viable option for researchers. En ligne : http://dx.doi.org/10.1007/s10803-010-0987-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=111

Development and Initial Validation of a Parent Report Measure of the Behavioral Development of Infants at Risk for Autism Spectrum Disorders / Maurice FELDMAN in Journal of Autism and Developmental Disorders, 42-1 (January 2012)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 42-1 (January 2012) . - p.13-22 Titre : Development and Initial Validation of a Parent Report Measure of the Behavioral Development of Infants at Risk for Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Maurice FELDMAN, Auteur ; Rebecca A. WARD, Auteur ; Danielle SAVONA, Auteur ; Kaleigh REGEHR, Auteur ; Kevin PARKER, Auteur ; Melissa HUDSON, Auteur ; Henderika PENNING, Auteur ; Jeanette J. A. HOLDEN, Auteur Année de publication : 2012 Article en page(s) : p.13-22 Langues : Anglais (eng) Mots-clés : Early identification  At-risk infants Index. décimale : PER Périodiques Résumé : We developed and evaluated a new parent report instrument—Parent Observation of Early Markers Scale (POEMS)—to monitor the behavioral development of infants at risk for autism spectrum disorder (ASD) because they have older affected siblings. Parents of 108 at-risk infants (74 males, 34 females) completed the POEMS from child age 1–24 months. The POEMS had acceptable psychometric properties and promising predictive validity. Most concerning items were social and communication deficits, and intolerance to waiting. Results provide preliminary evidence that prospective parent report measures can help to detect early ASD symptoms in infants at biological risk. We invite researchers to join us in multi-center studies of the POEMS. En ligne : http://dx.doi.org/10.1007/s10803-011-1208-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=151 [article] Development and Initial Validation of a Parent Report Measure of the Behavioral Development of Infants at Risk for Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Maurice FELDMAN, Auteur ; Rebecca A. WARD, Auteur ; Danielle SAVONA, Auteur ; Kaleigh REGEHR, Auteur ; Kevin PARKER, Auteur ; Melissa HUDSON, Auteur ; Henderika PENNING, Auteur ; Jeanette J. A. HOLDEN, Auteur . - 2012 . - p.13-22. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 42-1 (January 2012) . - p.13-22 Mots-clés : Early identification  At-risk infants Index. décimale : PER Périodiques Résumé : We developed and evaluated a new parent report instrument—Parent Observation of Early Markers Scale (POEMS)—to monitor the behavioral development of infants at risk for autism spectrum disorder (ASD) because they have older affected siblings. Parents of 108 at-risk infants (74 males, 34 females) completed the POEMS from child age 1–24 months. The POEMS had acceptable psychometric properties and promising predictive validity. Most concerning items were social and communication deficits, and intolerance to waiting. Results provide preliminary evidence that prospective parent report measures can help to detect early ASD symptoms in infants at biological risk. We invite researchers to join us in multi-center studies of the POEMS. En ligne : http://dx.doi.org/10.1007/s10803-011-1208-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=151

Functional Evaluation of Hidden Figures Object Analysis in Children with Autistic Disorder / Krisztina L. MALISZA in Journal of Autism and Developmental Disorders, 41-1 (January 2011)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 41-1 (January 2011) . - p.13-22 Titre : Functional Evaluation of Hidden Figures Object Analysis in Children with Autistic Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Krisztina L. MALISZA, Auteur ; Christine CLANCY, Auteur ; Deborah SHILOFF, Auteur ; Derek FOREMAN, Auteur ; Jeanette J. A. HOLDEN, Auteur ; Cheryl JONES, Auteur ; K. PAULSON, Auteur ; Randy SUMMERS, Auteur ; C.T. YU, Auteur ; Albert E. CHUDLEY, Auteur Année de publication : 2011 Article en page(s) : p.13-22 Langues : Anglais (eng) Mots-clés : Autism Disorder (AD)  Attention Deficit Hyperactivity Disorder (ADHD)  Embedded Figures Task (EFT)  Hidden Figures Task (HFT)  Functional Magnetic Resonance Imaging (fMRI) Index. décimale : PER Périodiques Résumé : Functional magnetic resonance imaging (fMRI) during performance of a hidden figures task (HFT) was used to compare differences in brain function in children diagnosed with autism disorder (AD) compared to children with attention-deficit/hyperactivity disorder (ADHD) and typical controls (TC). Overall greater functional MRI activity was observed in the two control groups compared to children with AD. Laterality differences were also evident, with AD subjects preferentially showing activity in the right medial temporal region while controls tended to activate the left medial temporal cortex. Reduced fMRI activity was observed in the parietal, ventral-temporal and hippocampal regions in the AD group, suggesting differences in the way that children with AD process the HFT. En ligne : http://dx.doi.org/10.1007/s10803-010-1013-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=114 [article] Functional Evaluation of Hidden Figures Object Analysis in Children with Autistic Disorder [Texte imprimé et/ou numérique] / Krisztina L. MALISZA, Auteur ; Christine CLANCY, Auteur ; Deborah SHILOFF, Auteur ; Derek FOREMAN, Auteur ; Jeanette J. A. HOLDEN, Auteur ; Cheryl JONES, Auteur ; K. PAULSON, Auteur ; Randy SUMMERS, Auteur ; C.T. YU, Auteur ; Albert E. CHUDLEY, Auteur . - 2011 . - p.13-22. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 41-1 (January 2011) . - p.13-22 Mots-clés : Autism Disorder (AD)  Attention Deficit Hyperactivity Disorder (ADHD)  Embedded Figures Task (EFT)  Hidden Figures Task (HFT)  Functional Magnetic Resonance Imaging (fMRI) Index. décimale : PER Périodiques Résumé : Functional magnetic resonance imaging (fMRI) during performance of a hidden figures task (HFT) was used to compare differences in brain function in children diagnosed with autism disorder (AD) compared to children with attention-deficit/hyperactivity disorder (ADHD) and typical controls (TC). Overall greater functional MRI activity was observed in the two control groups compared to children with AD. Laterality differences were also evident, with AD subjects preferentially showing activity in the right medial temporal region while controls tended to activate the left medial temporal cortex. Reduced fMRI activity was observed in the parietal, ventral-temporal and hippocampal regions in the AD group, suggesting differences in the way that children with AD process the HFT. En ligne : http://dx.doi.org/10.1007/s10803-010-1013-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=114

Population- and Family-Based Studies Associate the MTHFR Gene with Idiopathic Autism in Simplex Families / Xudong LIU in Journal of Autism and Developmental Disorders, 41-7 (July 2011)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 41-7 (July 2011) . - p.938-944 Titre : Population- and Family-Based Studies Associate the MTHFR Gene with Idiopathic Autism in Simplex Families Type de document : Texte imprimé et/ou numérique Auteurs : Xudong LIU, Auteur ; Fatima SOLEHDIN, Auteur ; Ira L. COHEN, Auteur ; Maripaz G. GONZALEZ, Auteur ; Edmund C. JENKINS, Auteur ; M. E. Suzanne LEWIS, Auteur ; Jeanette J. A. HOLDEN, Auteur Année de publication : 2011 Article en page(s) : p.938-944 Langues : Anglais (eng) Mots-clés : Autism spectrum disorders (ASDs)  Gene association  Methylenetetrahydrofolate reductase (MTHFR)  Functional polymorphism  Epigenetics  Methylation Index. décimale : PER Périodiques Résumé : Two methylenetetrahydrofolate reductase gene (MTHFR) functional polymorphisms were studied in 205 North American simplex (SPX) and 307 multiplex (MPX) families having one or more children with an autism spectrum disorder. Case–control comparisons revealed a significantly higher frequency of the low-activity 677T allele, higher prevalence of the 677TT genotype and higher frequencies of the 677T-1298A haplotype and double homozygous 677TT/1298AA genotype in affected individuals relative to controls. Family-based association testing demonstrated significant preferential transmission of the 677T and 1298A alleles and the 677T-1298A haplotype to affected offspring. The results were not replicated in MPX families. The results associate the MTHFR gene with autism in SPX families only, suggesting that reduced MTHFR activity is a risk factor for autism in these families. En ligne : http://dx.doi.org/10.1007/s10803-010-1120-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=130 [article] Population- and Family-Based Studies Associate the MTHFR Gene with Idiopathic Autism in Simplex Families [Texte imprimé et/ou numérique] / Xudong LIU, Auteur ; Fatima SOLEHDIN, Auteur ; Ira L. COHEN, Auteur ; Maripaz G. GONZALEZ, Auteur ; Edmund C. JENKINS, Auteur ; M. E. Suzanne LEWIS, Auteur ; Jeanette J. A. HOLDEN, Auteur . - 2011 . - p.938-944. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 41-7 (July 2011) . - p.938-944 Mots-clés : Autism spectrum disorders (ASDs)  Gene association  Methylenetetrahydrofolate reductase (MTHFR)  Functional polymorphism  Epigenetics  Methylation Index. décimale : PER Périodiques Résumé : Two methylenetetrahydrofolate reductase gene (MTHFR) functional polymorphisms were studied in 205 North American simplex (SPX) and 307 multiplex (MPX) families having one or more children with an autism spectrum disorder. Case–control comparisons revealed a significantly higher frequency of the low-activity 677T allele, higher prevalence of the 677TT genotype and higher frequencies of the 677T-1298A haplotype and double homozygous 677TT/1298AA genotype in affected individuals relative to controls. Family-based association testing demonstrated significant preferential transmission of the 677T and 1298A alleles and the 677T-1298A haplotype to affected offspring. The results were not replicated in MPX families. The results associate the MTHFR gene with autism in SPX families only, suggesting that reduced MTHFR activity is a risk factor for autism in these families. En ligne : http://dx.doi.org/10.1007/s10803-010-1120-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=130

The G22A Polymorphism of the ADA Gene and Susceptibility to Autism Spectrum Disorders / Joe A. HETTINGER in Journal of Autism and Developmental Disorders, 38-1 (January 2008)  

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The roles of dopamine and norepinephrine in autism : from behavior and pharmacotherapy to genetics / Jeanette J. A. HOLDEN

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Trends in Autism Prevalence: Diagnostic Substitution Revisited / Helen COO in Journal of Autism and Developmental Disorders, 38-6 (July 2008)  

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Trends in Special Education Code Assignment for Autism: Implications for Prevalence Estimates / Hélène OUELLETTE-KUNTZ in Journal of Autism and Developmental Disorders, 37-10 (November 2007)  

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