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

Reduced social preferences in autism: evidence from charitable donations / A. LIN in Journal of Neurodevelopmental Disorders, 4-1 (December 2012)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 4-1 (December 2012) . - p.8 Titre : Reduced social preferences in autism: evidence from charitable donations Type de document : Texte imprimé et/ou numérique Auteurs : A. LIN, Auteur ; K. TSAI, Auteur ; A. RANGEL, Auteur ; Ralph ADOLPHS, Auteur Article en page(s) : p.8 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : BACKGROUND: People with autism have abnormal preferences, ranging from an apparent lack of preference for social stimuli to unusually strong preferences for restricted sets of highly idiosyncratic stimuli. Yet the profile of preferences across social and nonsocial domains has not been mapped out in detail, and the processes responsible remain poorly understood. METHODS: To assess preferences across a range of stimuli, we measured real monetary donations to 50 charities spanning categories pertaining to people, mental health, animals, or the environment. We compared the donations made by 16 high-functioning adults with autism to those made by neurotypical controls matched on age, gender and education. We additionally collected ratings of how people evaluated the different charities. RESULTS: Compared with controls, high-functioning adults with autism donated less overall and also showed a significantly disproportionate reduction in donations to people charities compared with donations to the other charities. Furthermore, whereas controls discriminated strongly between different people charities, choosing to donate a lot of money to some and very little to others, much less discrimination was seen in the autism group. Ratings that probed how participants constructed their preferences did not differ between groups, except for a difference in the perceived impact of pictures and text information about people charities. Strikingly, there were some charities related to mental health, and autism in particular, to which the autism group donated considerably more than did the controls. CONCLUSIONS: People with autism were found to have reduced preference and sensitivity towards charities benefiting other people. The findings provide evidence for a domain-specific impairment in social cognition in autism spectrum disorder, and in particular in linking otherwise intact social knowledge to the construction of value signals on which preferences regarding other people are based. En ligne : http://dx.doi.org/10.1186/1866-1955-4-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=344 [article] Reduced social preferences in autism: evidence from charitable donations [Texte imprimé et/ou numérique] / A. LIN, Auteur ; K. TSAI, Auteur ; A. RANGEL, Auteur ; Ralph ADOLPHS, Auteur . - p.8. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 4-1 (December 2012) . - p.8 Index. décimale : PER Périodiques Résumé : BACKGROUND: People with autism have abnormal preferences, ranging from an apparent lack of preference for social stimuli to unusually strong preferences for restricted sets of highly idiosyncratic stimuli. Yet the profile of preferences across social and nonsocial domains has not been mapped out in detail, and the processes responsible remain poorly understood. METHODS: To assess preferences across a range of stimuli, we measured real monetary donations to 50 charities spanning categories pertaining to people, mental health, animals, or the environment. We compared the donations made by 16 high-functioning adults with autism to those made by neurotypical controls matched on age, gender and education. We additionally collected ratings of how people evaluated the different charities. RESULTS: Compared with controls, high-functioning adults with autism donated less overall and also showed a significantly disproportionate reduction in donations to people charities compared with donations to the other charities. Furthermore, whereas controls discriminated strongly between different people charities, choosing to donate a lot of money to some and very little to others, much less discrimination was seen in the autism group. Ratings that probed how participants constructed their preferences did not differ between groups, except for a difference in the perceived impact of pictures and text information about people charities. Strikingly, there were some charities related to mental health, and autism in particular, to which the autism group donated considerably more than did the controls. CONCLUSIONS: People with autism were found to have reduced preference and sensitivity towards charities benefiting other people. The findings provide evidence for a domain-specific impairment in social cognition in autism spectrum disorder, and in particular in linking otherwise intact social knowledge to the construction of value signals on which preferences regarding other people are based. En ligne : http://dx.doi.org/10.1186/1866-1955-4-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=344

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

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