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Auteur A. L. REISS |
Documents disponibles écrits par cet auteur (10)



Aberrant basal ganglia metabolism in fragile X syndrome: a magnetic resonance spectroscopy study / Jennifer L. BRUNO in Journal of Neurodevelopmental Disorders, 5-1 (December 2013)
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[article]
Titre : Aberrant basal ganglia metabolism in fragile X syndrome: a magnetic resonance spectroscopy study Type de document : Texte imprimé et/ou numérique Auteurs : Jennifer L. BRUNO, Auteur ; E. W. SHELLY, Auteur ; E. M. QUINTIN, Auteur ; M. ROSTAMI, Auteur ; S. PATNAIK, Auteur ; D. SPIELMAN, Auteur ; D. MAYER, Auteur ; M. GU, Auteur ; A. A. LIGHTBODY, Auteur ; A. L. REISS, Auteur Article en page(s) : p.20 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : BACKGROUND: The profile of cognitive and behavioral variation observed in individuals with fragile X syndrome (FXS), the most common known cause of inherited intellectual impairment, suggests aberrant functioning of specific brain systems. Research investigating animal models of FXS, characterized by limited or lack of fragile X mental retardation protein, (FMRP), has linked brain dysfunction to deficits in the cholinergic and glutamatergic systems. Thus, we sought to examine in vivo levels of neurometabolites related to cholinergic and glutamatergic functioning in males and females with FXS. METHODS: The study participants included 18 adolescents and young adults with FXS, and a comparison group of 18 individuals without FXS matched for age, sex and general intellectual functioning. Proton magnetic resonance spectroscopy (MRS) was used to assess neurometabolite levels in the caudate nucleus, a region known to be greatly enlarged and involved in abnormal brain circuitry in individuals with FXS. A general linear model framework was used to compare group differences in metabolite concentration. RESULTS: We observed a decrease in choline (P = 0.027) and in glutamate + glutamine (P = 0.032) in the caudate nucleus of individuals with FXS, relative to individuals in the comparison group. CONCLUSIONS: This study provides evidence of metabolite differences in the caudate nucleus, a brain region of potential importance to our understanding of the neural deficits underlying FXS. These metabolic differences may be related to aberrant receptor signaling seen in animal models. Furthermore, identification of the specific neurometabolites involved in FXS dysfunction could provide critical biomarkers for the design and efficacy tracking of disease-specific pharmacological treatments. En ligne : http://dx.doi.org/10.1186/1866-1955-5-20 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=345
in Journal of Neurodevelopmental Disorders > 5-1 (December 2013) . - p.20[article] Aberrant basal ganglia metabolism in fragile X syndrome: a magnetic resonance spectroscopy study [Texte imprimé et/ou numérique] / Jennifer L. BRUNO, Auteur ; E. W. SHELLY, Auteur ; E. M. QUINTIN, Auteur ; M. ROSTAMI, Auteur ; S. PATNAIK, Auteur ; D. SPIELMAN, Auteur ; D. MAYER, Auteur ; M. GU, Auteur ; A. A. LIGHTBODY, Auteur ; A. L. REISS, Auteur . - p.20.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 5-1 (December 2013) . - p.20
Index. décimale : PER Périodiques Résumé : BACKGROUND: The profile of cognitive and behavioral variation observed in individuals with fragile X syndrome (FXS), the most common known cause of inherited intellectual impairment, suggests aberrant functioning of specific brain systems. Research investigating animal models of FXS, characterized by limited or lack of fragile X mental retardation protein, (FMRP), has linked brain dysfunction to deficits in the cholinergic and glutamatergic systems. Thus, we sought to examine in vivo levels of neurometabolites related to cholinergic and glutamatergic functioning in males and females with FXS. METHODS: The study participants included 18 adolescents and young adults with FXS, and a comparison group of 18 individuals without FXS matched for age, sex and general intellectual functioning. Proton magnetic resonance spectroscopy (MRS) was used to assess neurometabolite levels in the caudate nucleus, a region known to be greatly enlarged and involved in abnormal brain circuitry in individuals with FXS. A general linear model framework was used to compare group differences in metabolite concentration. RESULTS: We observed a decrease in choline (P = 0.027) and in glutamate + glutamine (P = 0.032) in the caudate nucleus of individuals with FXS, relative to individuals in the comparison group. CONCLUSIONS: This study provides evidence of metabolite differences in the caudate nucleus, a brain region of potential importance to our understanding of the neural deficits underlying FXS. These metabolic differences may be related to aberrant receptor signaling seen in animal models. Furthermore, identification of the specific neurometabolites involved in FXS dysfunction could provide critical biomarkers for the design and efficacy tracking of disease-specific pharmacological treatments. En ligne : http://dx.doi.org/10.1186/1866-1955-5-20 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=345 Effects of X Chromosome Monosomy and Genomic Imprinting on Observational Markers of Social Anxiety in Prepubertal Girls with Turner Syndrome / S. S. HALL in Journal of Autism and Developmental Disorders, 52-1 (January 2022)
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Titre : Effects of X Chromosome Monosomy and Genomic Imprinting on Observational Markers of Social Anxiety in Prepubertal Girls with Turner Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : S. S. HALL, Auteur ; M. J. RILEY, Auteur ; R. N. WESTON, Auteur ; J. F. LEPAGE, Auteur ; D. S. HONG, Auteur ; B. JO, Auteur ; J. HALLMAYER, Auteur ; A. L. REISS, Auteur Article en page(s) : p.16-27 Langues : Anglais (eng) Mots-clés : Anxiety Autism Spectrum Disorder Female Genomic Imprinting Humans Monosomy Turner Syndrome/genetics X Chromosome Behavioral observations Gaze avoidance Turner syndrome Index. décimale : PER Périodiques Résumé : Previous studies have suggested that girls with Turner syndrome (TS) exhibit symptoms of social anxiety during interactions with others. However, few studies have quantified these behaviors during naturalistic face-to-face social encounters. In this study, we coded observational markers of social anxiety in prepubertal girls with TS and age-matched controls during a 10-min social encounter with an unfamiliar examiner. Results showed that girls with TS exhibited significantly higher levels of gaze avoidance compared to controls. Impairments in social gaze were particularly increased in girls with a maternally retained X chromosome (Xm), suggesting a genomic imprinting effect. These data indicate that social gaze avoidance may be a critical behavioral marker for identifying early social dysfunction in young girls with TS. En ligne : http://dx.doi.org/10.1007/s10803-021-04896-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=454
in Journal of Autism and Developmental Disorders > 52-1 (January 2022) . - p.16-27[article] Effects of X Chromosome Monosomy and Genomic Imprinting on Observational Markers of Social Anxiety in Prepubertal Girls with Turner Syndrome [Texte imprimé et/ou numérique] / S. S. HALL, Auteur ; M. J. RILEY, Auteur ; R. N. WESTON, Auteur ; J. F. LEPAGE, Auteur ; D. S. HONG, Auteur ; B. JO, Auteur ; J. HALLMAYER, Auteur ; A. L. REISS, Auteur . - p.16-27.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 52-1 (January 2022) . - p.16-27
Mots-clés : Anxiety Autism Spectrum Disorder Female Genomic Imprinting Humans Monosomy Turner Syndrome/genetics X Chromosome Behavioral observations Gaze avoidance Turner syndrome Index. décimale : PER Périodiques Résumé : Previous studies have suggested that girls with Turner syndrome (TS) exhibit symptoms of social anxiety during interactions with others. However, few studies have quantified these behaviors during naturalistic face-to-face social encounters. In this study, we coded observational markers of social anxiety in prepubertal girls with TS and age-matched controls during a 10-min social encounter with an unfamiliar examiner. Results showed that girls with TS exhibited significantly higher levels of gaze avoidance compared to controls. Impairments in social gaze were particularly increased in girls with a maternally retained X chromosome (Xm), suggesting a genomic imprinting effect. These data indicate that social gaze avoidance may be a critical behavioral marker for identifying early social dysfunction in young girls with TS. En ligne : http://dx.doi.org/10.1007/s10803-021-04896-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=454 Empathic Accuracy in Adolescent Girls with Turner Syndrome / M. KLABUNDE in Journal of Autism and Developmental Disorders, 52-5 (May 2022)
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Titre : Empathic Accuracy in Adolescent Girls with Turner Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : M. KLABUNDE, Auteur ; A. PICCIRILLI, Auteur ; J. BRUNO, Auteur ; M. GENDRON, Auteur ; A. L. REISS, Auteur Article en page(s) : p.2203-2212 Langues : Anglais (eng) Mots-clés : Adolescent Autism Spectrum Disorder Child Empathy Female Humans Male Psychomotor Performance Turner Syndrome/psychology Social cognition and neurogenetic disorders Theory of mind Turner syndrome Index. décimale : PER Périodiques Résumé : To examine the potential mechanisms underlying social deficits in Turner Syndrome, we administered the empathic accuracy task (EAT) -a naturalistic social cognition task- and a (control) visual-motor line-tracking task to 14 girls with TS was compared to 12 age-matched typically developing girls (TD; ages 12 to 17). Empathic accuracy was compared across positive and negative emotionally valanced videos. We found that TS differs from TD on empathic accuracy ratings for negative videos; no differences were detected for the positive videos or for the control line tracking task. Thus, our findings suggest impaired detection of negatively valanced empathic interactions in TS and may help inform the future development of social-cognition treatment strategies for girls with TS. En ligne : http://dx.doi.org/10.1007/s10803-021-05089-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=476
in Journal of Autism and Developmental Disorders > 52-5 (May 2022) . - p.2203-2212[article] Empathic Accuracy in Adolescent Girls with Turner Syndrome [Texte imprimé et/ou numérique] / M. KLABUNDE, Auteur ; A. PICCIRILLI, Auteur ; J. BRUNO, Auteur ; M. GENDRON, Auteur ; A. L. REISS, Auteur . - p.2203-2212.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 52-5 (May 2022) . - p.2203-2212
Mots-clés : Adolescent Autism Spectrum Disorder Child Empathy Female Humans Male Psychomotor Performance Turner Syndrome/psychology Social cognition and neurogenetic disorders Theory of mind Turner syndrome Index. décimale : PER Périodiques Résumé : To examine the potential mechanisms underlying social deficits in Turner Syndrome, we administered the empathic accuracy task (EAT) -a naturalistic social cognition task- and a (control) visual-motor line-tracking task to 14 girls with TS was compared to 12 age-matched typically developing girls (TD; ages 12 to 17). Empathic accuracy was compared across positive and negative emotionally valanced videos. We found that TS differs from TD on empathic accuracy ratings for negative videos; no differences were detected for the positive videos or for the control line tracking task. Thus, our findings suggest impaired detection of negatively valanced empathic interactions in TS and may help inform the future development of social-cognition treatment strategies for girls with TS. En ligne : http://dx.doi.org/10.1007/s10803-021-05089-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=476 A preliminary study of orbitofrontal activation and hypersociability in Williams Syndrome / M. MIMURA in Journal of Neurodevelopmental Disorders, 2-2 (June 2010)
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Titre : A preliminary study of orbitofrontal activation and hypersociability in Williams Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : M. MIMURA, Auteur ; F. HOEFT, Auteur ; M. KATO, Auteur ; N. KOBAYASHI, Auteur ; K. SHEAU, Auteur ; J. PIGGOT, Auteur ; D. MILLS, Auteur ; A. GALABURDA, Auteur ; J. R. KORENBERG, Auteur ; Ursula BELLUGI, Auteur ; A. L. REISS, Auteur Article en page(s) : p.93-98 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Individuals with Williams syndrome (WS) demonstrate an abnormally positive social bias. However, the neural substrates of this hypersociability, i.e., positive attribution bias and increased drive toward social interaction, have not fully been elucidated. METHODS: We performed an event-related functional magnetic resonance imaging study while individuals with WS and typically developing controls (TD) matched positive and negative emotional faces. WS compared to TD showed reduced right amygdala activation during presentation of negative faces, as in the previous literature. In addition, WS showed a unique pattern of right orbitofrontal cortex activation. While TD showed medial orbitofrontal cortex activation in response to positive, and lateral orbitofrontal cortex activation to negative, WS showed the opposite pattern. In light of the general notion of a medial/lateral gradient of reward/punishment processing in the orbitofrontal cortex, these findings provide an additional biological explanation for, or correlate of positive attribution bias and hypersociability in WS. En ligne : http://dx.doi.org/10.1007/s11689-009-9041-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342
in Journal of Neurodevelopmental Disorders > 2-2 (June 2010) . - p.93-98[article] A preliminary study of orbitofrontal activation and hypersociability in Williams Syndrome [Texte imprimé et/ou numérique] / M. MIMURA, Auteur ; F. HOEFT, Auteur ; M. KATO, Auteur ; N. KOBAYASHI, Auteur ; K. SHEAU, Auteur ; J. PIGGOT, Auteur ; D. MILLS, Auteur ; A. GALABURDA, Auteur ; J. R. KORENBERG, Auteur ; Ursula BELLUGI, Auteur ; A. L. REISS, Auteur . - p.93-98.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 2-2 (June 2010) . - p.93-98
Index. décimale : PER Périodiques Résumé : Individuals with Williams syndrome (WS) demonstrate an abnormally positive social bias. However, the neural substrates of this hypersociability, i.e., positive attribution bias and increased drive toward social interaction, have not fully been elucidated. METHODS: We performed an event-related functional magnetic resonance imaging study while individuals with WS and typically developing controls (TD) matched positive and negative emotional faces. WS compared to TD showed reduced right amygdala activation during presentation of negative faces, as in the previous literature. In addition, WS showed a unique pattern of right orbitofrontal cortex activation. While TD showed medial orbitofrontal cortex activation in response to positive, and lateral orbitofrontal cortex activation to negative, WS showed the opposite pattern. In light of the general notion of a medial/lateral gradient of reward/punishment processing in the orbitofrontal cortex, these findings provide an additional biological explanation for, or correlate of positive attribution bias and hypersociability in WS. En ligne : http://dx.doi.org/10.1007/s11689-009-9041-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342 Repetitive and self-injurious behaviors: associations with caudate volume in autism and fragile X syndrome / J. J. WOLFF in Journal of Neurodevelopmental Disorders, 5-1 (December 2013)
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Titre : Repetitive and self-injurious behaviors: associations with caudate volume in autism and fragile X syndrome Type de document : Texte imprimé et/ou numérique Auteurs : J. J. WOLFF, Auteur ; Heather C. HAZLETT, Auteur ; A. A. LIGHTBODY, Auteur ; A. L. REISS, Auteur ; J. PIVEN, Auteur Article en page(s) : p.12 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : BACKGROUND: Following from previous work suggesting that neurobehavioral features distinguish fragile X and idiopathic variants of autism, we investigated the relationships between four forms of repetitive behavior (stereotypy, self-injury, compulsivity, ritual behavior) and caudate nuclei volume in two groups: boys with fragile X syndrome, a subset of whom met criteria for autism, and a comparison group of boys with idiopathic autism. METHODS: Bilateral caudate nuclei volumes were measured in boys aged 3 to 6 years with fragile X syndrome (n = 41), the subset of boys with fragile X syndrome and autism (n = 16), and boys with idiopathic autism (n = 30). Repetitive behaviors were measured using the Repetitive Behavior Scales-Revised. RESULTS: For boys with idiopathic autism, left caudate volume was modestly associated with self-injury, while both compulsive and ritual behaviors showed significant positive correlations with bilateral caudate nuclei volumes, replicating previous results. For boys with fragile X syndrome, there was no such association between caudate volume and compulsive behaviors. However, we did identify significant positive correlations between self-injury total scores and number of self-injury topographies with bilateral caudate nuclei volumes. CONCLUSIONS: These findings suggest a specific role for the caudate nucleus in the early pathogenesis of self-injurious behavior associated with both idiopathic autism and fragile X syndrome. Results further indicate that the caudate may be differentially associated with compulsive behavior, highlighting the utility of isolating discrete brain-behavior associations within and between subtypes of autism spectrum disorder. En ligne : http://dx.doi.org/10.1186/1866-1955-5-12 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=345
in Journal of Neurodevelopmental Disorders > 5-1 (December 2013) . - p.12[article] Repetitive and self-injurious behaviors: associations with caudate volume in autism and fragile X syndrome [Texte imprimé et/ou numérique] / J. J. WOLFF, Auteur ; Heather C. HAZLETT, Auteur ; A. A. LIGHTBODY, Auteur ; A. L. REISS, Auteur ; J. PIVEN, Auteur . - p.12.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 5-1 (December 2013) . - p.12
Index. décimale : PER Périodiques Résumé : BACKGROUND: Following from previous work suggesting that neurobehavioral features distinguish fragile X and idiopathic variants of autism, we investigated the relationships between four forms of repetitive behavior (stereotypy, self-injury, compulsivity, ritual behavior) and caudate nuclei volume in two groups: boys with fragile X syndrome, a subset of whom met criteria for autism, and a comparison group of boys with idiopathic autism. METHODS: Bilateral caudate nuclei volumes were measured in boys aged 3 to 6 years with fragile X syndrome (n = 41), the subset of boys with fragile X syndrome and autism (n = 16), and boys with idiopathic autism (n = 30). Repetitive behaviors were measured using the Repetitive Behavior Scales-Revised. RESULTS: For boys with idiopathic autism, left caudate volume was modestly associated with self-injury, while both compulsive and ritual behaviors showed significant positive correlations with bilateral caudate nuclei volumes, replicating previous results. For boys with fragile X syndrome, there was no such association between caudate volume and compulsive behaviors. However, we did identify significant positive correlations between self-injury total scores and number of self-injury topographies with bilateral caudate nuclei volumes. CONCLUSIONS: These findings suggest a specific role for the caudate nucleus in the early pathogenesis of self-injurious behavior associated with both idiopathic autism and fragile X syndrome. Results further indicate that the caudate may be differentially associated with compulsive behavior, highlighting the utility of isolating discrete brain-behavior associations within and between subtypes of autism spectrum disorder. En ligne : http://dx.doi.org/10.1186/1866-1955-5-12 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=345 A solution to limitations of cognitive testing in children with intellectual disabilities: the case of fragile X syndrome / D. HESSL in Journal of Neurodevelopmental Disorders, 1-1 (March 2009)
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PermalinkTeasing apart the heterogeneity of autism: Same behavior, different brains in toddlers with fragile X syndrome and autism / Heather C. HAZLETT in Journal of Neurodevelopmental Disorders, 1-1 (March 2009)
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PermalinkTesting for association of the monoamine oxidase A promoter polymorphism with brain structure volumes in both autism and the fragile X syndrome / T. H. WASSINK in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)
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PermalinkThe neural basis of auditory temporal discrimination in girls with fragile X syndrome / S. S. HALL in Journal of Neurodevelopmental Disorders, 1-1 (March 2009)
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PermalinkUpdated report on tools to measure outcomes of clinical trials in fragile X syndrome / Dejan B. BUDIMIROVIC in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)
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