Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication / LeeAnne GREEN SNYDER in Journal of Autism and Developmental Disorders, 46-8 (August 2016)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 46-8 (August 2016) . - p.2734-2748 Titre : Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication Type de document : Texte imprimé et/ou numérique Auteurs : LeeAnne GREEN SNYDER, Auteur ; Debra D’ANGELO, Auteur ; Qixuan CHEN, Auteur ; Raphael BERNIER, Auteur ; Robin P. GOIN-KOCHEL, Auteur ; Arianne S. WALLACE, Auteur ; Jennifer GERDTS, Auteur ; Stephen M. KANNE, Auteur ; Leandra N. BERRY, Auteur ; Lisa BLASKEY, Auteur ; Emily KUSCHNER, Auteur ; Timothy ROBERTS, Auteur ; Elliot SHERR, Auteur ; Christa L. MARTIN, Auteur ; David H. LEDBETTER, Auteur ; John E. SPIRO, Auteur ; Wendy K. CHUNG, Auteur ; Ellen HANSON, Auteur Article en page(s) : p.2734-2748 Langues : Anglais (eng) Mots-clés : 16p11.2 duplication  Genetics  Neuropsychological  Autism  Intellectual disability  Cognitive Index. décimale : PER Périodiques Résumé : The 16p11.2 duplication (BP4–BP5) is associated with Autism Spectrum Disorder (ASD), although significant heterogeneity exists. Quantitative ASD, behavioral and neuropsychological measures and DSM-IV diagnoses in child and adult carriers were compared with familial non-carrier controls, and to published results from deletion carriers. The 16p11.2 duplication phenotype ranges widely from asymptomatic presentation to significant disability. The most common diagnoses were intellectual disability, motor delays and Attention Deficit Hyperactivity Disorder in children, and anxiety in adults. ASD occurred in nearly 20 % of child cases, but a majority of carriers did not show the unique social features of ASD. The 16p11.2 duplication phenotype is characterized by wider variability than the reciprocal deletion, likely reflecting contributions from additional risk factors. En ligne : http://dx.doi.org/10.1007/s10803-016-2807-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=291 [article] Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication [Texte imprimé et/ou numérique] / LeeAnne GREEN SNYDER, Auteur ; Debra D’ANGELO, Auteur ; Qixuan CHEN, Auteur ; Raphael BERNIER, Auteur ; Robin P. GOIN-KOCHEL, Auteur ; Arianne S. WALLACE, Auteur ; Jennifer GERDTS, Auteur ; Stephen M. KANNE, Auteur ; Leandra N. BERRY, Auteur ; Lisa BLASKEY, Auteur ; Emily KUSCHNER, Auteur ; Timothy ROBERTS, Auteur ; Elliot SHERR, Auteur ; Christa L. MARTIN, Auteur ; David H. LEDBETTER, Auteur ; John E. SPIRO, Auteur ; Wendy K. CHUNG, Auteur ; Ellen HANSON, Auteur . - p.2734-2748. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 46-8 (August 2016) . - p.2734-2748 Mots-clés : 16p11.2 duplication  Genetics  Neuropsychological  Autism  Intellectual disability  Cognitive Index. décimale : PER Périodiques Résumé : The 16p11.2 duplication (BP4–BP5) is associated with Autism Spectrum Disorder (ASD), although significant heterogeneity exists. Quantitative ASD, behavioral and neuropsychological measures and DSM-IV diagnoses in child and adult carriers were compared with familial non-carrier controls, and to published results from deletion carriers. The 16p11.2 duplication phenotype ranges widely from asymptomatic presentation to significant disability. The most common diagnoses were intellectual disability, motor delays and Attention Deficit Hyperactivity Disorder in children, and anxiety in adults. ASD occurred in nearly 20 % of child cases, but a majority of carriers did not show the unique social features of ASD. The 16p11.2 duplication phenotype is characterized by wider variability than the reciprocal deletion, likely reflecting contributions from additional risk factors. En ligne : http://dx.doi.org/10.1007/s10803-016-2807-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=291

Comorbid symptoms of inattention, autism, and executive cognition in youth with putative genetic risk / Anne B. ARNETT in Journal of Child Psychology and Psychiatry, 59-3 (March 2018)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 59-3 (March 2018) . - p.268-276 Titre : Comorbid symptoms of inattention, autism, and executive cognition in youth with putative genetic risk Type de document : Texte imprimé et/ou numérique Auteurs : Anne B. ARNETT, Auteur ; Brianna E. CAIRNEY, Auteur ; Arianne S. WALLACE, Auteur ; Jennifer GERDTS, Auteur ; Tychele N. TURNER, Auteur ; Evan E. EICHLER, Auteur ; Raphael BERNIER, Auteur Article en page(s) : p.268-276 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : https://doi.org/10.1111/jcpp.12815 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=339 [article] Comorbid symptoms of inattention, autism, and executive cognition in youth with putative genetic risk [Texte imprimé et/ou numérique] / Anne B. ARNETT, Auteur ; Brianna E. CAIRNEY, Auteur ; Arianne S. WALLACE, Auteur ; Jennifer GERDTS, Auteur ; Tychele N. TURNER, Auteur ; Evan E. EICHLER, Auteur ; Raphael BERNIER, Auteur . - p.268-276. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 59-3 (March 2018) . - p.268-276 Index. décimale : PER Périodiques En ligne : https://doi.org/10.1111/jcpp.12815 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=339

Concentrations of Cortical GABA and Glutamate in Young Adults With Autism Spectrum Disorder / Tamar KOLODNY in Autism Research, 13-7 (July 2020)  

Public ISBD [article]  inAutism Research > 13-7 (July 2020) . - p.1111-1129 Titre : Concentrations of Cortical GABA and Glutamate in Young Adults With Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Tamar KOLODNY, Auteur ; Michael-Paul SCHALLMO, Auteur ; Jennifer GERDTS, Auteur ; Richard A. E. EDDEN, Auteur ; Raphael BERNIER, Auteur ; Scott O. MURRAY, Auteur Article en page(s) : p.1111-1129 Langues : Anglais (eng) Mots-clés : auditory cortex  autism spectrum disorders  glutamate  magnetic resonance spectroscopy  sensorimotor cortex  visual cortex  ?-aminobutyric acid Index. décimale : PER Périodiques Résumé : The balance of excitation and inhibition in neural circuits is hypothesized to be increased in autism spectrum disorder, possibly mediated by altered signaling of the inhibitory neurotransmitter ?-aminobutyric acid (GABA), yet empirical evidence in humans is inconsistent. We used edited magnetic resonance spectroscopy (MRS) to quantify signals associated with both GABA and the excitatory neurotransmitter glutamate in multiple regions of the sensory and sensorimotor cortex, including primary visual, auditory, and motor areas in adult individuals with autism and in neurotypical controls. Despite the strong a priori hypothesis of reduced GABA in autism spectrum disorder, we found no group differences in neurometabolite concentrations in any of the examined regions and no correlations of MRS measure with psychophysical visual sensitivity or autism symptomatology. We demonstrate high data quality that is comparable across groups, with a relatively large sample of well-characterized participants, and use Bayesian statistics to corroborate the lack of any group differences. We conclude that levels of GABA and Glx (glutamate, glutamine, and glutathione) in the sensory and sensorimotor cortex, as measured with MRS at 3T, are comparable in adults with autism and neurotypical individuals. Autism Res 2020, 13: 1111-1129. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: ?-Aminobutyric acid (GABA) and glutamate are the main inhibitory and excitatory neurotransmitters in the human brain, respectively, and their balanced interaction is necessary for neural function. Previous research suggests that the GABA and glutamate systems might be altered in autism. In this study, we used magnetic resonance spectroscopy to measure concentrations of these neurotransmitters in the sensory areas in the brains of young adults with autism. In contradiction to the common hypothesis of reduced GABA in autism, we demonstrate that concentrations of both GABA and glutamate, in all the brain regions examined, are comparable in individuals with autism and in neurotypical adults. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.2300 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=429 [article] Concentrations of Cortical GABA and Glutamate in Young Adults With Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Tamar KOLODNY, Auteur ; Michael-Paul SCHALLMO, Auteur ; Jennifer GERDTS, Auteur ; Richard A. E. EDDEN, Auteur ; Raphael BERNIER, Auteur ; Scott O. MURRAY, Auteur . - p.1111-1129. Langues : Anglais (eng) in Autism Research > 13-7 (July 2020) . - p.1111-1129 Mots-clés : auditory cortex  autism spectrum disorders  glutamate  magnetic resonance spectroscopy  sensorimotor cortex  visual cortex  ?-aminobutyric acid Index. décimale : PER Périodiques Résumé : The balance of excitation and inhibition in neural circuits is hypothesized to be increased in autism spectrum disorder, possibly mediated by altered signaling of the inhibitory neurotransmitter ?-aminobutyric acid (GABA), yet empirical evidence in humans is inconsistent. We used edited magnetic resonance spectroscopy (MRS) to quantify signals associated with both GABA and the excitatory neurotransmitter glutamate in multiple regions of the sensory and sensorimotor cortex, including primary visual, auditory, and motor areas in adult individuals with autism and in neurotypical controls. Despite the strong a priori hypothesis of reduced GABA in autism spectrum disorder, we found no group differences in neurometabolite concentrations in any of the examined regions and no correlations of MRS measure with psychophysical visual sensitivity or autism symptomatology. We demonstrate high data quality that is comparable across groups, with a relatively large sample of well-characterized participants, and use Bayesian statistics to corroborate the lack of any group differences. We conclude that levels of GABA and Glx (glutamate, glutamine, and glutathione) in the sensory and sensorimotor cortex, as measured with MRS at 3T, are comparable in adults with autism and neurotypical individuals. Autism Res 2020, 13: 1111-1129. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: ?-Aminobutyric acid (GABA) and glutamate are the main inhibitory and excitatory neurotransmitters in the human brain, respectively, and their balanced interaction is necessary for neural function. Previous research suggests that the GABA and glutamate systems might be altered in autism. In this study, we used magnetic resonance spectroscopy to measure concentrations of these neurotransmitters in the sensory areas in the brains of young adults with autism. In contradiction to the common hypothesis of reduced GABA in autism, we demonstrate that concentrations of both GABA and glutamate, in all the brain regions examined, are comparable in individuals with autism and in neurotypical adults. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.2300 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=429

Evidence for broader autism phenotype characteristics in parents from multiple-incidence autism families / Raphael BERNIER in Autism Research, 5-1 (February 2012)  

Public ISBD [article]  inAutism Research > 5-1 (February 2012) . - p.13-20 Titre : Evidence for broader autism phenotype characteristics in parents from multiple-incidence autism families Type de document : Texte imprimé et/ou numérique Auteurs : Raphael BERNIER, Auteur ; Jennifer GERDTS, Auteur ; Jeffrey MUNSON, Auteur ; Geraldine DAWSON, Auteur ; Annette ESTES, Auteur Année de publication : 2012 Article en page(s) : p.13-20 Langues : Anglais (eng) Mots-clés : broader autism phenotype  autism spectrum disorders  genetics  autism assessment Index. décimale : PER Périodiques Résumé : The broader autism phenotype (BAP) was assessed in parents who have two or more children with autism spectrum disorder (ASD) (multiplex (MPX) autism), parents who have no more than one child with ASD (simplex autism), parents who have a child with developmental delay without ASD, and parents who have typically developing children. Clinicians, naive to parent group membership status, rated BAP characteristics from videotaped administration of the Broader Autism Phenotype Symptom Scale (BPASS). Differences among groups in BPASS scores in the four assessed domains (social motivation, conversational skills, expressiveness, and restricted interests) were examined using multivariate ANOVA and post hoc comparisons. Further, ratings of videotapes by observers naïve to family status were compared with live, non-naive ratings by observers who were aware of family status (non-naïve). Findings demonstrate that the BPASS is an instrument resistant to rater bias. Parents from MPX autism families showed significantly more autism phenotype characteristics than the parents in the other groups. Moreover, the parents from simplex autism families did not differ from the parents of children with developmental delay or typical development. Finally, no differences between live, non-naive ratings and videotaped, naive ratings were observed. These findings suggest that characteristics of the BAP, specifically in the social and communication domains, are present in MPX autism parents to a greater degree than simplex autism and control parents. Further, the results provide support for the notion that genetic transmission mechanisms may differ between families with more than one child with autism and families with only one child with autism. En ligne : http://dx.doi.org/10.1002/aur.226 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=153 [article] Evidence for broader autism phenotype characteristics in parents from multiple-incidence autism families [Texte imprimé et/ou numérique] / Raphael BERNIER, Auteur ; Jennifer GERDTS, Auteur ; Jeffrey MUNSON, Auteur ; Geraldine DAWSON, Auteur ; Annette ESTES, Auteur . - 2012 . - p.13-20. Langues : Anglais (eng) in Autism Research > 5-1 (February 2012) . - p.13-20 Mots-clés : broader autism phenotype  autism spectrum disorders  genetics  autism assessment Index. décimale : PER Périodiques Résumé : The broader autism phenotype (BAP) was assessed in parents who have two or more children with autism spectrum disorder (ASD) (multiplex (MPX) autism), parents who have no more than one child with ASD (simplex autism), parents who have a child with developmental delay without ASD, and parents who have typically developing children. Clinicians, naive to parent group membership status, rated BAP characteristics from videotaped administration of the Broader Autism Phenotype Symptom Scale (BPASS). Differences among groups in BPASS scores in the four assessed domains (social motivation, conversational skills, expressiveness, and restricted interests) were examined using multivariate ANOVA and post hoc comparisons. Further, ratings of videotapes by observers naïve to family status were compared with live, non-naive ratings by observers who were aware of family status (non-naïve). Findings demonstrate that the BPASS is an instrument resistant to rater bias. Parents from MPX autism families showed significantly more autism phenotype characteristics than the parents in the other groups. Moreover, the parents from simplex autism families did not differ from the parents of children with developmental delay or typical development. Finally, no differences between live, non-naive ratings and videotaped, naive ratings were observed. These findings suggest that characteristics of the BAP, specifically in the social and communication domains, are present in MPX autism parents to a greater degree than simplex autism and control parents. Further, the results provide support for the notion that genetic transmission mechanisms may differ between families with more than one child with autism and families with only one child with autism. En ligne : http://dx.doi.org/10.1002/aur.226 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=153

The Broader Autism Phenotype and Its Implications on the Etiology and Treatment of Autism Spectrum Disorders / Jennifer GERDTS in Autism Research and Treatment, (May 2011)  

Public ISBD [article]  inAutism Research and Treatment > (May 2011) . - 19 p. Titre : The Broader Autism Phenotype and Its Implications on the Etiology and Treatment of Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Jennifer GERDTS, Auteur ; Raphael BERNIER, Auteur Année de publication : 2011 Article en page(s) : 19 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The presence of autism-related traits has been well documented in undiagnosed family members of individuals with autism spectrum disorder (ASD). The most common finding is mild impairments in social and communication skills that are similar to those shown by individuals with autism, but exhibited to a lesser degree. Termed the broader autism phenotype (BAP), these traits suggest a genetic liability for autism-related traits in families. Genetic influence in autism is strong, with identical twins showing high concordance for the diagnosis and related traits and approximately 20% of all ASD cases having an identified genetic mechanism. This paper highlights the studies conducted to date regarding the BAP and considers the implications of these findings for the etiology and treatment of ASD. En ligne : http://dx.doi.org/10.1155/2011/545901 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=149 [article] The Broader Autism Phenotype and Its Implications on the Etiology and Treatment of Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Jennifer GERDTS, Auteur ; Raphael BERNIER, Auteur . - 2011 . - 19 p. Langues : Anglais (eng) in Autism Research and Treatment > (May 2011) . - 19 p. Index. décimale : PER Périodiques Résumé : The presence of autism-related traits has been well documented in undiagnosed family members of individuals with autism spectrum disorder (ASD). The most common finding is mild impairments in social and communication skills that are similar to those shown by individuals with autism, but exhibited to a lesser degree. Termed the broader autism phenotype (BAP), these traits suggest a genetic liability for autism-related traits in families. Genetic influence in autism is strong, with identical twins showing high concordance for the diagnosis and related traits and approximately 20% of all ASD cases having an identified genetic mechanism. This paper highlights the studies conducted to date regarding the BAP and considers the implications of these findings for the etiology and treatment of ASD. En ligne : http://dx.doi.org/10.1155/2011/545901 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=149

The Broader Autism Phenotype in Simplex and Multiplex Families / Jennifer GERDTS in Journal of Autism and Developmental Disorders, 43-7 (July 2013)  

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