Erratum to: The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications / M. A. GILLENTINE in Journal of Autism and Developmental Disorders, 47-3 (March 2017)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 47-3 (March 2017) . - p.563-563 Titre : Erratum to: The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications Type de document : Texte imprimé et/ou numérique Auteurs : M. A. GILLENTINE, Auteur ; Leandra N. BERRY, Auteur ; R. P. GOIN-KOCHEL, Auteur ; M. A. ALI, Auteur ; J. GE, Auteur ; D. GUFFEY, Auteur ; J. A. ROSENFELD, Auteur ; V. HANNIG, Auteur ; P. BADER, Auteur ; M. PROUD, Auteur ; M. SHINAWI, Auteur ; B. H. GRAHAM, Auteur ; A. LIN, Auteur ; S. R. LALANI, Auteur ; J. REYNOLDS, Auteur ; M. CHEN, Auteur ; T. GREBE, Auteur ; C. G. MINARD, Auteur ; P. STANKIEWICZ, Auteur ; Arthur L. BEAUDET, Auteur ; Christian P. SCHAAF, Auteur Article en page(s) : p.563-563 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1007/s10803-017-3047-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=304 [article] Erratum to: The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications [Texte imprimé et/ou numérique] / M. A. GILLENTINE, Auteur ; Leandra N. BERRY, Auteur ; R. P. GOIN-KOCHEL, Auteur ; M. A. ALI, Auteur ; J. GE, Auteur ; D. GUFFEY, Auteur ; J. A. ROSENFELD, Auteur ; V. HANNIG, Auteur ; P. BADER, Auteur ; M. PROUD, Auteur ; M. SHINAWI, Auteur ; B. H. GRAHAM, Auteur ; A. LIN, Auteur ; S. R. LALANI, Auteur ; J. REYNOLDS, Auteur ; M. CHEN, Auteur ; T. GREBE, Auteur ; C. G. MINARD, Auteur ; P. STANKIEWICZ, Auteur ; Arthur L. BEAUDET, Auteur ; Christian P. SCHAAF, Auteur . - p.563-563. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 47-3 (March 2017) . - p.563-563 Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1007/s10803-017-3047-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=304

Gene Disrupting Mutations Associated with Regression in Autism Spectrum Disorder / R. P. GOIN-KOCHEL in Journal of Autism and Developmental Disorders, 47-11 (November 2017)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 47-11 (November 2017) . - p.3600-3607 Titre : Gene Disrupting Mutations Associated with Regression in Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : R. P. GOIN-KOCHEL, Auteur ; S. TRINH, Auteur ; S. BARBER, Auteur ; Raphael BERNIER, Auteur Article en page(s) : p.3600-3607 Langues : Anglais (eng) Mots-clés : Asd  Autism  Exome  Genetics  Mutation  Regression  Simplex Index. décimale : PER Périodiques Résumé : Approximately one-third of children with autism spectrum disorder (ASD) reportedly lose skills within the first 3 years, yet a causal mechanism remains elusive. Considering evidence of strong genetic effects for ASD and findings that distinct phenotypes in ASD associate with specific genetic events, we examined rates of parent-reported regression in the Simons Simplex Collection with likely gene disrupting mutations from five distinct classes: FMRP target genes, genes encoding chromatin modifiers, genes expressed preferentially in embryos, genes encoding postsynaptic density proteins, and essential genes. Children with ASD and mutations in postsynaptic density genes were more likely to experience regression, while a trend suggested that children with ASD and mutations in embryonic genes were less likely to have skill losses. En ligne : http://dx.doi.org/10.1007/s10803-017-3256-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=325 [article] Gene Disrupting Mutations Associated with Regression in Autism Spectrum Disorder [Texte imprimé et/ou numérique] / R. P. GOIN-KOCHEL, Auteur ; S. TRINH, Auteur ; S. BARBER, Auteur ; Raphael BERNIER, Auteur . - p.3600-3607. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 47-11 (November 2017) . - p.3600-3607 Mots-clés : Asd  Autism  Exome  Genetics  Mutation  Regression  Simplex Index. décimale : PER Périodiques Résumé : Approximately one-third of children with autism spectrum disorder (ASD) reportedly lose skills within the first 3 years, yet a causal mechanism remains elusive. Considering evidence of strong genetic effects for ASD and findings that distinct phenotypes in ASD associate with specific genetic events, we examined rates of parent-reported regression in the Simons Simplex Collection with likely gene disrupting mutations from five distinct classes: FMRP target genes, genes encoding chromatin modifiers, genes expressed preferentially in embryos, genes encoding postsynaptic density proteins, and essential genes. Children with ASD and mutations in postsynaptic density genes were more likely to experience regression, while a trend suggested that children with ASD and mutations in embryonic genes were less likely to have skill losses. En ligne : http://dx.doi.org/10.1007/s10803-017-3256-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=325

The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications / M. A. GILLENTINE in Journal of Autism and Developmental Disorders, 47-3 (March 2017)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 47-3 (March 2017) . - p.549-562 Titre : The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications Type de document : Texte imprimé et/ou numérique Auteurs : M. A. GILLENTINE, Auteur ; Leandra N. BERRY, Auteur ; R. P. GOIN-KOCHEL, Auteur ; M. A. ALI, Auteur ; J. GE, Auteur ; D. GUFFEY, Auteur ; J. A. ROSENFELD, Auteur ; V. HANNIG, Auteur ; P. BADER, Auteur ; M. PROUD, Auteur ; M. SHINAWI, Auteur ; B. H. GRAHAM, Auteur ; A. LIN, Auteur ; S. R. LALANI, Auteur ; J. REYNOLDS, Auteur ; M. CHEN, Auteur ; T. GREBE, Auteur ; C. G. MINARD, Auteur ; P. STANKIEWICZ, Auteur ; Arthur L. BEAUDET, Auteur ; Christian P. SCHAAF, Auteur Article en page(s) : p.549-562 Langues : Anglais (eng) Mots-clés : 15q13.3 microduplication  CHRNA7  Neurodevelopment  Behavior  Autism spectrum disorder Index. décimale : PER Périodiques Résumé : Chromosome 15q11q13 is among the least stable regions in the genome due to its highly complex genomic architecture. Low copy repeat elements at 15q13.3 facilitate recurrent copy number variants (CNVs), with deletions established as pathogenic and CHRNA7 implicated as a candidate gene. However, the pathogenicity of duplications of CHRNA7 is unclear, as they are found in affected probands as well as in reportedly healthy parents and unaffected control individuals. We evaluated 18 children with microduplications involving CHRNA7, identified by clinical chromosome microarray analysis (CMA). Comprehensive phenotyping revealed high prevalence of developmental delay/intellectual disability, autism spectrum disorder, and attention deficit/hyperactivity disorder. As CHRNA7 duplications are the most common CNVs identified by clinical CMA, this study provides anticipatory guidance for those involved with care of affected individuals. En ligne : http://dx.doi.org/10.1007/s10803-016-2961-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=304 [article] The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 Duplications [Texte imprimé et/ou numérique] / M. A. GILLENTINE, Auteur ; Leandra N. BERRY, Auteur ; R. P. GOIN-KOCHEL, Auteur ; M. A. ALI, Auteur ; J. GE, Auteur ; D. GUFFEY, Auteur ; J. A. ROSENFELD, Auteur ; V. HANNIG, Auteur ; P. BADER, Auteur ; M. PROUD, Auteur ; M. SHINAWI, Auteur ; B. H. GRAHAM, Auteur ; A. LIN, Auteur ; S. R. LALANI, Auteur ; J. REYNOLDS, Auteur ; M. CHEN, Auteur ; T. GREBE, Auteur ; C. G. MINARD, Auteur ; P. STANKIEWICZ, Auteur ; Arthur L. BEAUDET, Auteur ; Christian P. SCHAAF, Auteur . - p.549-562. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 47-3 (March 2017) . - p.549-562 Mots-clés : 15q13.3 microduplication  CHRNA7  Neurodevelopment  Behavior  Autism spectrum disorder Index. décimale : PER Périodiques Résumé : Chromosome 15q11q13 is among the least stable regions in the genome due to its highly complex genomic architecture. Low copy repeat elements at 15q13.3 facilitate recurrent copy number variants (CNVs), with deletions established as pathogenic and CHRNA7 implicated as a candidate gene. However, the pathogenicity of duplications of CHRNA7 is unclear, as they are found in affected probands as well as in reportedly healthy parents and unaffected control individuals. We evaluated 18 children with microduplications involving CHRNA7, identified by clinical chromosome microarray analysis (CMA). Comprehensive phenotyping revealed high prevalence of developmental delay/intellectual disability, autism spectrum disorder, and attention deficit/hyperactivity disorder. As CHRNA7 duplications are the most common CNVs identified by clinical CMA, this study provides anticipatory guidance for those involved with care of affected individuals. En ligne : http://dx.doi.org/10.1007/s10803-016-2961-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=304

Using latent class analysis to identify treatment-use subgroups among parents of children with autism spectrum disorder / S. S. MIRE in Autism Research, 12-5 (May 2019)  

Public ISBD [article]  inAutism Research > 12-5 (May 2019) . - p.843-854 Titre : Using latent class analysis to identify treatment-use subgroups among parents of children with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : S. S. MIRE, Auteur ; S. MCQUILLIN, Auteur ; M. RACINE, Auteur ; R. P. GOIN-KOCHEL, Auteur Article en page(s) : p.843-854 Langues : Anglais (eng) Mots-clés : Asd  autism  developmental regression  latent class analysis  treatment Index. décimale : PER Périodiques Résumé : Among parents of 2,582 children (ages 4-17 years old) with autism spectrum disorder (ASD), we used latent class analysis to identify subgroups and profiles of treatment users and included annual household income in the specification of the models, then described characteristics of each subgroup. Based on three indicators of fit (Akaike's Information Criterion, Bayesian Information Criterion, and Lo-Mendell-Rubin), six latent classes of treatment users emerged. Subgroups included users of: (a) mostly private and school speech and occupational therapies; (b) nearly all treatment types; (c) mostly speech and occupational therapies, plus intensive behavioral and "other" treatments, but little medication use; (d) private therapies almost exclusively; (e) primarily psychotropic medications; and (f) mostly school-based therapies. Income significantly predicted class differences for all but one latent class. Probabilities of families' lifetime use of nine treatment types varied depending on latent classification. Proportions of families reporting having observed children's developmental regression were largest in those with the highest overall treatment use, and these children also had the lowest cognitive and adaptive-functioning scores and the highest ASD symptom scores. Understanding patterns of treatment use among families of children with ASD is an important first step in enhancing treatment-related selection and implementation. Autism Research 2019, 12: 843-854. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: We identified six different groups of treatment users to help explain patterns in treatment implementation among parents of children and adolescents with autism. These included families who used: (a) mostly used private and school speech and occupational therapies; (b) nearly all treatment types (private and school therapies, intensive behavioral, biomedical, psychotropic medications, and other treatments); (c) mostly speech and occupational therapies, plus intensive behavioral and "other" treatments, but little medication use; (d) private therapies almost exclusively; (e) primarily psychotropic medications; and (f) mostly school-based therapies. En ligne : http://dx.doi.org/10.1002/aur.2107 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=397 [article] Using latent class analysis to identify treatment-use subgroups among parents of children with autism spectrum disorder [Texte imprimé et/ou numérique] / S. S. MIRE, Auteur ; S. MCQUILLIN, Auteur ; M. RACINE, Auteur ; R. P. GOIN-KOCHEL, Auteur . - p.843-854. Langues : Anglais (eng) in Autism Research > 12-5 (May 2019) . - p.843-854 Mots-clés : Asd  autism  developmental regression  latent class analysis  treatment Index. décimale : PER Périodiques Résumé : Among parents of 2,582 children (ages 4-17 years old) with autism spectrum disorder (ASD), we used latent class analysis to identify subgroups and profiles of treatment users and included annual household income in the specification of the models, then described characteristics of each subgroup. Based on three indicators of fit (Akaike's Information Criterion, Bayesian Information Criterion, and Lo-Mendell-Rubin), six latent classes of treatment users emerged. Subgroups included users of: (a) mostly private and school speech and occupational therapies; (b) nearly all treatment types; (c) mostly speech and occupational therapies, plus intensive behavioral and "other" treatments, but little medication use; (d) private therapies almost exclusively; (e) primarily psychotropic medications; and (f) mostly school-based therapies. Income significantly predicted class differences for all but one latent class. Probabilities of families' lifetime use of nine treatment types varied depending on latent classification. Proportions of families reporting having observed children's developmental regression were largest in those with the highest overall treatment use, and these children also had the lowest cognitive and adaptive-functioning scores and the highest ASD symptom scores. Understanding patterns of treatment use among families of children with ASD is an important first step in enhancing treatment-related selection and implementation. Autism Research 2019, 12: 843-854. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: We identified six different groups of treatment users to help explain patterns in treatment implementation among parents of children and adolescents with autism. These included families who used: (a) mostly used private and school speech and occupational therapies; (b) nearly all treatment types (private and school therapies, intensive behavioral, biomedical, psychotropic medications, and other treatments); (c) mostly speech and occupational therapies, plus intensive behavioral and "other" treatments, but little medication use; (d) private therapies almost exclusively; (e) primarily psychotropic medications; and (f) mostly school-based therapies. En ligne : http://dx.doi.org/10.1002/aur.2107 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=397

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