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)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 5-1 (December 2013) . - p.20 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 [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

Age-Related Differences in Response to Music-Evoked Emotion Among Children and Adolescents with Autism Spectrum Disorders / K. G. STEPHENSON 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.1142-1151 Titre : Age-Related Differences in Response to Music-Evoked Emotion Among Children and Adolescents with Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : K. G. STEPHENSON, Auteur ; E. M. QUINTIN, Auteur ; M. SOUTH, Auteur Année de publication : 2016 Article en page(s) : p.1142-1151 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Music  Anxiety  Emotion  Development  Skin conductance  response Index. décimale : PER Périodiques Résumé : While research regarding emotion recognition in ASD has focused primarily on social cues, musical stimuli also elicit strong emotional responses. This study extends and expands the few previous studies of response to music in ASD, measuring both psychophysiological and behavioral responses in younger children (ages 8–11) as well as older adolescents (ages 16–18). Compared to controls, the ASD group demonstrated reduced skin conductance response to music-evoked emotion. Younger groups, regardless of diagnosis, showed greater physiological reactivity to scary stimuli than to other emotions. There was a significant interaction of age group and diagnostic group in identifying scary music stimuli, possibly evidencing disrupted developmental trajectories in ASD for integrating physiological and cognitive cues that may underlie symptoms of anxiety. En ligne : http://dx.doi.org/10.1007/s10803-015-2624-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=284 [article] Age-Related Differences in Response to Music-Evoked Emotion Among Children and Adolescents with Autism Spectrum Disorders [Texte imprimé et/ou numérique] / K. G. STEPHENSON, Auteur ; E. M. QUINTIN, Auteur ; M. SOUTH, Auteur . - 2016 . - p.1142-1151. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 46-4 (April 2016) . - p.1142-1151 Mots-clés : Autism spectrum disorder  Music  Anxiety  Emotion  Development  Skin conductance  response Index. décimale : PER Périodiques Résumé : While research regarding emotion recognition in ASD has focused primarily on social cues, musical stimuli also elicit strong emotional responses. This study extends and expands the few previous studies of response to music in ASD, measuring both psychophysiological and behavioral responses in younger children (ages 8–11) as well as older adolescents (ages 16–18). Compared to controls, the ASD group demonstrated reduced skin conductance response to music-evoked emotion. Younger groups, regardless of diagnosis, showed greater physiological reactivity to scary stimuli than to other emotions. There was a significant interaction of age group and diagnostic group in identifying scary music stimuli, possibly evidencing disrupted developmental trajectories in ASD for integrating physiological and cognitive cues that may underlie symptoms of anxiety. En ligne : http://dx.doi.org/10.1007/s10803-015-2624-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=284

Erratum to: Age-Related Differences in Response to Music-Evoked Emotion Among Children and Adolescents with Autism Spectrum Disorders / K. G. STEPHENSON 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.1152-1152 Titre : Erratum to: Age-Related Differences in Response to Music-Evoked Emotion Among Children and Adolescents with Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : K. G. STEPHENSON, Auteur ; E. M. QUINTIN, Auteur ; M. SOUTH, Auteur Article en page(s) : p.1152-1152 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1007/s10803-015-2676-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=284 [article] Erratum to: Age-Related Differences in Response to Music-Evoked Emotion Among Children and Adolescents with Autism Spectrum Disorders [Texte imprimé et/ou numérique] / K. G. STEPHENSON, Auteur ; E. M. QUINTIN, Auteur ; M. SOUTH, Auteur . - p.1152-1152. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 46-4 (April 2016) . - p.1152-1152 Index. décimale : PER Périodiques En ligne : http://dx.doi.org/10.1007/s10803-015-2676-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=284

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