Assessment of Cognitive Outcome Measures in Teenagers with 15q13.3 Microdeletion Syndrome / Emeline CRUTCHER in Journal of Autism and Developmental Disorders, 46-4 (April 2016)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 46-4 (April 2016) . - p.1455-1463 Titre : Assessment of Cognitive Outcome Measures in Teenagers with 15q13.3 Microdeletion Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Emeline CRUTCHER, Auteur ; May ALI, Auteur ; John HARRISON, Auteur ; Judit SOVAGO, Auteur ; Baltazar GOMEZ-MANCILLA, Auteur ; Christian P. SCHAAF, Auteur Article en page(s) : p.1455-1463 Langues : Anglais (eng) Mots-clés : Neuropsychiatric disease  Autism  Intellectual disability  Cognitive tests  Cognitive function Index. décimale : PER Périodiques Résumé : 15q13.3 microdeletion syndrome causes a spectrum of cognitive disorders, including intellectual disability and autism. We aimed to determine if any or all of three cognitive testing systems (the KiTAP, CogState, and Stanford–Binet) are suitable for assessment of cognitive function in affected individuals. These three tests were administered to ten individuals with 15q13.3 microdeletion syndrome (14–18 years of age), and the results were analyzed to determine feasibility of use, potential for improvement, and internal consistency. It was determined that the KiTAP, CogState, and Stanford–Binet are valid tests of cognitive function in 15q13.3 microdeletion patients. Therefore, these tests may be considered for use as objective outcome measures in future clinical trials, assessing change in cognitive function over a period of pharmacological treatment. En ligne : http://dx.doi.org/10.1007/s10803-015-2694-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=284 [article] Assessment of Cognitive Outcome Measures in Teenagers with 15q13.3 Microdeletion Syndrome [Texte imprimé et/ou numérique] / Emeline CRUTCHER, Auteur ; May ALI, Auteur ; John HARRISON, Auteur ; Judit SOVAGO, Auteur ; Baltazar GOMEZ-MANCILLA, Auteur ; Christian P. SCHAAF, Auteur . - p.1455-1463. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 46-4 (April 2016) . - p.1455-1463 Mots-clés : Neuropsychiatric disease  Autism  Intellectual disability  Cognitive tests  Cognitive function Index. décimale : PER Périodiques Résumé : 15q13.3 microdeletion syndrome causes a spectrum of cognitive disorders, including intellectual disability and autism. We aimed to determine if any or all of three cognitive testing systems (the KiTAP, CogState, and Stanford–Binet) are suitable for assessment of cognitive function in affected individuals. These three tests were administered to ten individuals with 15q13.3 microdeletion syndrome (14–18 years of age), and the results were analyzed to determine feasibility of use, potential for improvement, and internal consistency. It was determined that the KiTAP, CogState, and Stanford–Binet are valid tests of cognitive function in 15q13.3 microdeletion patients. Therefore, these tests may be considered for use as objective outcome measures in future clinical trials, assessing change in cognitive function over a period of pharmacological treatment. En ligne : http://dx.doi.org/10.1007/s10803-015-2694-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=284

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

Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome / Molly Mishler THOMASON in Journal of Autism and Developmental Disorders, 50-7 (July 2020)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 50-7 (July 2020) . - p.2491-2500 Titre : Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Molly Mishler THOMASON, Auteur ; John MCCARTHY, Auteur ; Robin P GOIN-KOCHEL, Auteur ; Lauren R. DOWELL, Auteur ; Christian P. SCHAAF, Auteur ; Leandra N. BERRY, Auteur Article en page(s) : p.2491-2500 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Behavior  Magel2  Neurodevelopment  Prader-Willi syndrome  Schaaf-Yang syndrome Index. décimale : PER Périodiques Résumé : Truncating variants of the MAGEL2 gene, one of the protein-coding genes within the Prader-Willi syndrome (PWS) critical region on chromosome 15q11, cause Schaaf-Yang syndrome (SYS)-a neurodevelopmental disorder that shares several clinical features with PWS. The current study sought to characterize the neurobehavioral phenotype of SYS in a sample of 9 patients with molecularly-confirmed SYS. Participants received an assessment of developmental/intellectual functioning, adaptive functioning, autism symptomatology, and behavioral/emotional functioning. Compared to individuals with PWS, patients with SYS manifested more severe cognitive deficits, no obsessions or compulsions, and increased rates of autism spectrum disorder. En ligne : http://dx.doi.org/10.1007/s10803-018-3775-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=426 [article] Neurocognitive and Neurobehavioral Phenotype of Youth with Schaaf-Yang Syndrome [Texte imprimé et/ou numérique] / Molly Mishler THOMASON, Auteur ; John MCCARTHY, Auteur ; Robin P GOIN-KOCHEL, Auteur ; Lauren R. DOWELL, Auteur ; Christian P. SCHAAF, Auteur ; Leandra N. BERRY, Auteur . - p.2491-2500. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 50-7 (July 2020) . - p.2491-2500 Mots-clés : Autism spectrum disorder  Behavior  Magel2  Neurodevelopment  Prader-Willi syndrome  Schaaf-Yang syndrome Index. décimale : PER Périodiques Résumé : Truncating variants of the MAGEL2 gene, one of the protein-coding genes within the Prader-Willi syndrome (PWS) critical region on chromosome 15q11, cause Schaaf-Yang syndrome (SYS)-a neurodevelopmental disorder that shares several clinical features with PWS. The current study sought to characterize the neurobehavioral phenotype of SYS in a sample of 9 patients with molecularly-confirmed SYS. Participants received an assessment of developmental/intellectual functioning, adaptive functioning, autism symptomatology, and behavioral/emotional functioning. Compared to individuals with PWS, patients with SYS manifested more severe cognitive deficits, no obsessions or compulsions, and increased rates of autism spectrum disorder. En ligne : http://dx.doi.org/10.1007/s10803-018-3775-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=426

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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