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

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 changing prevalence of autism in three regions of Canada / Hélène OUELLETTE-KUNTZ in Journal of Autism and Developmental Disorders, 44-1 (January 2014)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 44-1 (January 2014) . - p.120-136 Titre : The changing prevalence of autism in three regions of Canada Type de document : Texte imprimé et/ou numérique Auteurs : Hélène OUELLETTE-KUNTZ, Auteur ; Helen COO, Auteur ; Miu LAM, Auteur ; Marlene BREITENBACH, Auteur ; Paula E. HENNESSEY, Auteur ; Paulette D. JACKMAN, Auteur ; M. E. Suzanne LEWIS, Auteur ; Deborah DEWEY, Auteur ; François P. BERNIER, Auteur ; Amy M. CHUNG, Auteur Article en page(s) : p.120-136 Langues : Anglais (eng) Mots-clés : Autism  Surveillance  Canada  NEDSAC Index. décimale : PER Périodiques Résumé : In 2002/2003, the National Epidemiologic Database for the Study of Autism in Canada started capturing information on children diagnosed with autism in different regions of the country. Based on data collected through 2008 in Newfoundland and Labrador and 2010 in Prince Edward Island and Southeastern Ontario, the estimated average annual percent increases in prevalence among children 2–14 years of age ranged from 9.7 % (95 % CI 7.8–11.6) to 14.6 % (95 % CI 11.3–18.0). Differential in-migration and identification of previously undetected cases may have contributed in part to the increases observed, but we cannot rule out the possibility of a true increase in incidence, particularly given the lack of a leveling-off of prevalence among the 6- to 9-year olds. En ligne : http://dx.doi.org/10.1007/s10803-013-1856-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=220 [article] The changing prevalence of autism in three regions of Canada [Texte imprimé et/ou numérique] / Hélène OUELLETTE-KUNTZ, Auteur ; Helen COO, Auteur ; Miu LAM, Auteur ; Marlene BREITENBACH, Auteur ; Paula E. HENNESSEY, Auteur ; Paulette D. JACKMAN, Auteur ; M. E. Suzanne LEWIS, Auteur ; Deborah DEWEY, Auteur ; François P. BERNIER, Auteur ; Amy M. CHUNG, Auteur . - p.120-136. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 44-1 (January 2014) . - p.120-136 Mots-clés : Autism  Surveillance  Canada  NEDSAC Index. décimale : PER Périodiques Résumé : In 2002/2003, the National Epidemiologic Database for the Study of Autism in Canada started capturing information on children diagnosed with autism in different regions of the country. Based on data collected through 2008 in Newfoundland and Labrador and 2010 in Prince Edward Island and Southeastern Ontario, the estimated average annual percent increases in prevalence among children 2–14 years of age ranged from 9.7 % (95 % CI 7.8–11.6) to 14.6 % (95 % CI 11.3–18.0). Differential in-migration and identification of previously undetected cases may have contributed in part to the increases observed, but we cannot rule out the possibility of a true increase in incidence, particularly given the lack of a leveling-off of prevalence among the 6- to 9-year olds. En ligne : http://dx.doi.org/10.1007/s10803-013-1856-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=220

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

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 38-6 (July 2008) . - p.1036-1046 Titre : Trends in Autism Prevalence: Diagnostic Substitution Revisited Type de document : Texte imprimé et/ou numérique Auteurs : Helen COO, Auteur ; Hélène OUELLETTE-KUNTZ, Auteur ; Jennifer E. V. LLOYD, Auteur ; Liza KASMARA, Auteur ; Jeanette J. A. HOLDEN, Auteur ; M. E. Suzanne LEWIS, Auteur Année de publication : 2008 Article en page(s) : p.1036-1046 Langues : Anglais (eng) Mots-clés : Autism Autistic-disorder Diagnostic-substitution Prevalence Edudata-Canada British-Columbia-Ministry-of-Education Index. décimale : PER Périodiques Résumé : There has been little evidence to support the hypothesis that diagnostic substitution may contribute to increases in the administrative prevalence of autism. We examined trends in assignment of special education codes to British Columbia (BC) school children who had an autism code in at least 1 year between 1996 and 2004, inclusive. The proportion of children with an autism code increased from 12.3/10,000 in 1996 to 43.1/10,000 in 2004; 51.9% of this increase was attributable to children switching from another special education classification to autism (16.0/10,000). Taking into account the reverse situation (children with an autism code switching to another special education category (5.9/10.000)), diagnostic substitution accounted for at least one-third of the increase in autism prevalence over the study period. En ligne : http://dx.doi.org/10.1007/s10803-007-0478-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=473 [article] Trends in Autism Prevalence: Diagnostic Substitution Revisited [Texte imprimé et/ou numérique] / Helen COO, Auteur ; Hélène OUELLETTE-KUNTZ, Auteur ; Jennifer E. V. LLOYD, Auteur ; Liza KASMARA, Auteur ; Jeanette J. A. HOLDEN, Auteur ; M. E. Suzanne LEWIS, Auteur . - 2008 . - p.1036-1046. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 38-6 (July 2008) . - p.1036-1046 Mots-clés : Autism Autistic-disorder Diagnostic-substitution Prevalence Edudata-Canada British-Columbia-Ministry-of-Education Index. décimale : PER Périodiques Résumé : There has been little evidence to support the hypothesis that diagnostic substitution may contribute to increases in the administrative prevalence of autism. We examined trends in assignment of special education codes to British Columbia (BC) school children who had an autism code in at least 1 year between 1996 and 2004, inclusive. The proportion of children with an autism code increased from 12.3/10,000 in 1996 to 43.1/10,000 in 2004; 51.9% of this increase was attributable to children switching from another special education classification to autism (16.0/10,000). Taking into account the reverse situation (children with an autism code switching to another special education category (5.9/10.000)), diagnostic substitution accounted for at least one-third of the increase in autism prevalence over the study period. En ligne : http://dx.doi.org/10.1007/s10803-007-0478-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=473

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)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 37-10 (November 2007) . - p.1941-1948 Titre : Trends in Special Education Code Assignment for Autism: Implications for Prevalence Estimates Type de document : Texte imprimé et/ou numérique Auteurs : Hélène OUELLETTE-KUNTZ, Auteur ; Helen COO, Auteur ; Jennifer E. V. LLOYD, Auteur ; Liza KASMARA, Auteur ; Jeanette J. A. HOLDEN, Auteur ; M. E. Suzanne LEWIS, Auteur Année de publication : 2007 Article en page(s) : p.1941-1948 Langues : Anglais (eng) Mots-clés : Autism autistic-disorder prevalence trends special-education Edudata-Canada British-Columbia-Ministry-of-Education Index. décimale : PER Périodiques Résumé : There is considerable controversy over reasons for observed increases in the prevalence of autism spectrum disorders. We examined trends in British Columbia education database coding of children with autism from 1996 to 2004. There was a significant linear increase in autism prevalence. The proportion of children identified by age 6 increased significantly from 1996 to 1999. When we calculated prevalence assuming onset prior to age 3, previously unidentified cases, particularly among girls in 1996 and 1997, accounted for substantial increases in estimated prevalence. The magnitude of under-identification decreased from 1996 to 2000, and rose slightly in 2001. Analyses of prevalence trends must take into account effects of earlier age at identification and inclusion of previously undetected cases on prevalence estimates. En ligne : http://dx.doi.org/10.1007/s10803-006-0326-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=219 [article] Trends in Special Education Code Assignment for Autism: Implications for Prevalence Estimates [Texte imprimé et/ou numérique] / Hélène OUELLETTE-KUNTZ, Auteur ; Helen COO, Auteur ; Jennifer E. V. LLOYD, Auteur ; Liza KASMARA, Auteur ; Jeanette J. A. HOLDEN, Auteur ; M. E. Suzanne LEWIS, Auteur . - 2007 . - p.1941-1948. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 37-10 (November 2007) . - p.1941-1948 Mots-clés : Autism autistic-disorder prevalence trends special-education Edudata-Canada British-Columbia-Ministry-of-Education Index. décimale : PER Périodiques Résumé : There is considerable controversy over reasons for observed increases in the prevalence of autism spectrum disorders. We examined trends in British Columbia education database coding of children with autism from 1996 to 2004. There was a significant linear increase in autism prevalence. The proportion of children identified by age 6 increased significantly from 1996 to 1999. When we calculated prevalence assuming onset prior to age 3, previously unidentified cases, particularly among girls in 1996 and 1997, accounted for substantial increases in estimated prevalence. The magnitude of under-identification decreased from 1996 to 2000, and rose slightly in 2001. Analyses of prevalence trends must take into account effects of earlier age at identification and inclusion of previously undetected cases on prevalence estimates. En ligne : http://dx.doi.org/10.1007/s10803-006-0326-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=219

---

1 (1 - 5 / 5)