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Détail de l'auteur
Auteur Jennifer L. BRUNO |
Documents disponibles écrits par cet auteur (3)



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 : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=3455
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 : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=3455 Empathy and Anxiety in Young Girls with Fragile X Syndrome / Jonas G. MILLER in Journal of Autism and Developmental Disorders, 52-5 (May 2022)
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Titre : Empathy and Anxiety in Young Girls with Fragile X Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Jonas G. MILLER, Auteur ; Kristi L. BARTHOLOMAY, Auteur ; Cindy H. LEE, Auteur ; Jennifer L. BRUNO, Auteur ; Amy A. LIGHTBODY, Auteur ; Allan L. REISS, Auteur Article en page(s) : p.2213-2223 Langues : Anglais (eng) Mots-clés : Anxiety Anxiety Disorders/psychology Autism Spectrum Disorder/complications Empathy Female Fragile X Syndrome/psychology Humans Adolescence Childhood Females Fragile X syndrome Index. décimale : PER Périodiques Résumé : We tested whether empathy is impaired and associated with anxiety in girls with fragile X syndrome (FXS). We measured parent-reported empathy and self-reported anxiety in young girls with FXS and in a developmentally-matched comparison group. Girls with FXS received higher parent-reported scores on cognitive and affective empathy but also self-reported more severe anxiety symptoms, particularly separation anxiety and phobia symptoms, than girls in the comparison group. Girls with FXS who received higher cognitive empathy scores, however, appeared buffered against risk for separation anxiety and phobia symptoms. Girls with FXS experience elevated empathy and anxiety relative to their developmentally-matched peers. Higher cognitive empathy in girls with FXS may indicate resilience against specific forms of anxiety that are commonly observed in FXS. En ligne : http://dx.doi.org/10.1007/s10803-021-05105-6 Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=4764
in Journal of Autism and Developmental Disorders > 52-5 (May 2022) . - p.2213-2223[article] Empathy and Anxiety in Young Girls with Fragile X Syndrome [Texte imprimé et/ou numérique] / Jonas G. MILLER, Auteur ; Kristi L. BARTHOLOMAY, Auteur ; Cindy H. LEE, Auteur ; Jennifer L. BRUNO, Auteur ; Amy A. LIGHTBODY, Auteur ; Allan L. REISS, Auteur . - p.2213-2223.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 52-5 (May 2022) . - p.2213-2223
Mots-clés : Anxiety Anxiety Disorders/psychology Autism Spectrum Disorder/complications Empathy Female Fragile X Syndrome/psychology Humans Adolescence Childhood Females Fragile X syndrome Index. décimale : PER Périodiques Résumé : We tested whether empathy is impaired and associated with anxiety in girls with fragile X syndrome (FXS). We measured parent-reported empathy and self-reported anxiety in young girls with FXS and in a developmentally-matched comparison group. Girls with FXS received higher parent-reported scores on cognitive and affective empathy but also self-reported more severe anxiety symptoms, particularly separation anxiety and phobia symptoms, than girls in the comparison group. Girls with FXS who received higher cognitive empathy scores, however, appeared buffered against risk for separation anxiety and phobia symptoms. Girls with FXS experience elevated empathy and anxiety relative to their developmentally-matched peers. Higher cognitive empathy in girls with FXS may indicate resilience against specific forms of anxiety that are commonly observed in FXS. En ligne : http://dx.doi.org/10.1007/s10803-021-05105-6 Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=4764 The cognitive developmental profile associated with fragile X syndrome: A longitudinal investigation of cognitive strengths and weaknesses through childhood and adolescence / Eve-Marie QUINTIN in Development and Psychopathology, 28-4 pt2 (November 2016)
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Titre : The cognitive developmental profile associated with fragile X syndrome: A longitudinal investigation of cognitive strengths and weaknesses through childhood and adolescence Type de document : Texte imprimé et/ou numérique Auteurs : Eve-Marie QUINTIN, Auteur ; Booil JO, Auteur ; Scott S. HALL, Auteur ; Jennifer L. BRUNO, Auteur ; Lindsay C. CHROMIK, Auteur ; Mira M. RAMAN, Auteur ; Amy A. LIGHTBODY, Auteur ; Arianna MARTIN, Auteur ; Allan L. REISS, Auteur Article en page(s) : p.1457-1469 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Few studies have investigated developmental strengths and weaknesses within the cognitive profile of children and adolescents with fragile X syndrome (FXS), a single-gene cause of inherited intellectual impairment. With a prospective longitudinal design and using normalized raw scores (Z scores) to circumvent floor effects, we measured cognitive functioning of 184 children and adolescents with FXS (ages 6 to 16) using the Wechsler Scale of Intelligence for Children on one to three occasions for each participant. Participants with FXS received lower raw scores relative to the Wechsler Scale of Intelligence for Children normative sample across the developmental period. Verbal comprehension, perceptual organization, and processing speed Z scores were marked by a widening gap from the normative sample, while freedom from distractibility Z scores showed a narrowing gap. Key findings include a relative strength for verbal skills in comparison with visuospatial–constructive skills arising in adolescence and a discrepancy between working memory (weakness) and processing speed (strength) in childhood that diminishes in adolescence. Results suggest that the cognitive profile associated with FXS develops dynamically from childhood to adolescence. Findings are discussed within the context of aberrant brain morphology in childhood and maturation in adolescence. We argue that assessing disorder-specific cognitive developmental profiles will benefit future disorder-specific treatment research. En ligne : http://dx.doi.org/10.1017/s0954579415001200 Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=2944
in Development and Psychopathology > 28-4 pt2 (November 2016) . - p.1457-1469[article] The cognitive developmental profile associated with fragile X syndrome: A longitudinal investigation of cognitive strengths and weaknesses through childhood and adolescence [Texte imprimé et/ou numérique] / Eve-Marie QUINTIN, Auteur ; Booil JO, Auteur ; Scott S. HALL, Auteur ; Jennifer L. BRUNO, Auteur ; Lindsay C. CHROMIK, Auteur ; Mira M. RAMAN, Auteur ; Amy A. LIGHTBODY, Auteur ; Arianna MARTIN, Auteur ; Allan L. REISS, Auteur . - p.1457-1469.
Langues : Anglais (eng)
in Development and Psychopathology > 28-4 pt2 (November 2016) . - p.1457-1469
Index. décimale : PER Périodiques Résumé : Few studies have investigated developmental strengths and weaknesses within the cognitive profile of children and adolescents with fragile X syndrome (FXS), a single-gene cause of inherited intellectual impairment. With a prospective longitudinal design and using normalized raw scores (Z scores) to circumvent floor effects, we measured cognitive functioning of 184 children and adolescents with FXS (ages 6 to 16) using the Wechsler Scale of Intelligence for Children on one to three occasions for each participant. Participants with FXS received lower raw scores relative to the Wechsler Scale of Intelligence for Children normative sample across the developmental period. Verbal comprehension, perceptual organization, and processing speed Z scores were marked by a widening gap from the normative sample, while freedom from distractibility Z scores showed a narrowing gap. Key findings include a relative strength for verbal skills in comparison with visuospatial–constructive skills arising in adolescence and a discrepancy between working memory (weakness) and processing speed (strength) in childhood that diminishes in adolescence. Results suggest that the cognitive profile associated with FXS develops dynamically from childhood to adolescence. Findings are discussed within the context of aberrant brain morphology in childhood and maturation in adolescence. We argue that assessing disorder-specific cognitive developmental profiles will benefit future disorder-specific treatment research. En ligne : http://dx.doi.org/10.1017/s0954579415001200 Permalink : http://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=2944