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

Empathy and Anxiety in Young Girls with Fragile X Syndrome / Jonas G. MILLER in Journal of Autism and Developmental Disorders, 52-5 (May 2022)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 52-5 (May 2022) . - p.2213-2223 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 : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=476 [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 : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=476

Social gaze behavior and hyperarousal in young females with fragile X syndrome: A within-person approach / Jonas G. MILLER in Development and Psychopathology, 36-3 (August 2024)  

Public ISBD [article]  inDevelopment and Psychopathology > 36-3 (August 2024) . - p.1154-1165 Titre : Social gaze behavior and hyperarousal in young females with fragile X syndrome: A within-person approach Type de document : Texte imprimé et/ou numérique Auteurs : Jonas G. MILLER, Auteur ; Roxanna SHARIFI, Auteur ; Aaron PICCIRILLI, Auteur ; Rihui LI, Auteur ; Cindy H. LEE, Auteur ; Kristi L. BARTHOLOMAY, Auteur ; Tracy L. JORDAN, Auteur ; Matthew J. MARZELLI, Auteur ; Jennifer L. BRUNO, Auteur ; Amy A. LIGHTBODY, Auteur ; Allan L. REISS, Auteur Article en page(s) : p.1154-1165 Langues : Anglais (eng) Mots-clés : eye gaze avoidance  females  fragile X syndrome  pupil dilation Index. décimale : PER Périodiques Résumé : Children with fragile X syndrome (FXS) often avoid eye contact, a behavior that is potentially related to hyperarousal. Prior studies, however, have focused on between-person associations rather than coupling of within-person changes in gaze behaviors and arousal. In addition, there is debate about whether prompts to maintain eye contact are beneficial for individuals with FXS. In a study of young females (ages 6-16), we used eye tracking to assess gaze behavior and pupil dilation during social interactions in a group with FXS (n = 32) and a developmentally similar comparison group (n = 23). Participants engaged in semi-structured conversations with a female examiner during blocks with and without verbal prompts to maintain eye contact. We identified a social-behavioral and psychophysiological profile that is specific to females with FXS; this group exhibited lower mean levels of eye contact, significantly increased mean pupil dilation during conversations that included prompts to maintain eye contact, and showed stronger positive coupling between eye contact and pupil dilation. Our findings strengthen support for the perspective that gaze aversion in FXS reflects negative reinforcement of social avoidance behavior. We also found that behavioral skills training may improve eye contact, but maintaining eye contact appears to be physiologically taxing for females with FXS. En ligne : https://dx.doi.org/10.1017/S095457942300038X Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=538 [article] Social gaze behavior and hyperarousal in young females with fragile X syndrome: A within-person approach [Texte imprimé et/ou numérique] / Jonas G. MILLER, Auteur ; Roxanna SHARIFI, Auteur ; Aaron PICCIRILLI, Auteur ; Rihui LI, Auteur ; Cindy H. LEE, Auteur ; Kristi L. BARTHOLOMAY, Auteur ; Tracy L. JORDAN, Auteur ; Matthew J. MARZELLI, Auteur ; Jennifer L. BRUNO, Auteur ; Amy A. LIGHTBODY, Auteur ; Allan L. REISS, Auteur . - p.1154-1165. Langues : Anglais (eng) in Development and Psychopathology > 36-3 (August 2024) . - p.1154-1165 Mots-clés : eye gaze avoidance  females  fragile X syndrome  pupil dilation Index. décimale : PER Périodiques Résumé : Children with fragile X syndrome (FXS) often avoid eye contact, a behavior that is potentially related to hyperarousal. Prior studies, however, have focused on between-person associations rather than coupling of within-person changes in gaze behaviors and arousal. In addition, there is debate about whether prompts to maintain eye contact are beneficial for individuals with FXS. In a study of young females (ages 6-16), we used eye tracking to assess gaze behavior and pupil dilation during social interactions in a group with FXS (n = 32) and a developmentally similar comparison group (n = 23). Participants engaged in semi-structured conversations with a female examiner during blocks with and without verbal prompts to maintain eye contact. We identified a social-behavioral and psychophysiological profile that is specific to females with FXS; this group exhibited lower mean levels of eye contact, significantly increased mean pupil dilation during conversations that included prompts to maintain eye contact, and showed stronger positive coupling between eye contact and pupil dilation. Our findings strengthen support for the perspective that gaze aversion in FXS reflects negative reinforcement of social avoidance behavior. We also found that behavioral skills training may improve eye contact, but maintaining eye contact appears to be physiologically taxing for females with FXS. En ligne : https://dx.doi.org/10.1017/S095457942300038X Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=538

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)  

Public ISBD [article]  inDevelopment and Psychopathology > 28-4 pt2 (November 2016) . - p.1457-1469 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 : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=294 [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 : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=294

---

1 (1 - 4 / 4)