1088 recherche sur le mot-clé 'fragile-X-syndrome'

Autism Spectrum Phenotype in Males and Females with Fragile X Full Mutation and Premutation / Sally M. CLIFFORD in Journal of Autism and Developmental Disorders, 37-4 (April 2007)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 37-4 (April 2007) . - p.738-747 Titre : Autism Spectrum Phenotype in Males and Females with Fragile X Full Mutation and Premutation Type de document : texte imprimé Auteurs : Sally M. CLIFFORD, Auteur ; Cheryl DISSANAYAKE, Auteur ; Quang M. BUI, Auteur ; Richard HUGGINS, Auteur ; Annette K. TAYLOR, Auteur ; Danuta Z. LOESCH, Auteur Année de publication : 2007 Article en page(s) : p.738-747 Langues : Anglais (eng) Mots-clés : Fragile-X-syndrome-(FXS) Fragile-X-premutation-(FXP) Autism-Spectrum-Disorder-(ASD) Autism-Diagnostic-Observation-Schedule- Generic-(ADOS-G) Autism-Diagnostic-Interview-Revised-(ADI-R) Index. décimale : PER Périodiques Résumé : The behavioural phenotype of autism was assessed in individuals with full mutation and premutation fragile X syndrome (FXS) using the Autism Diagnostic Observation Scale-Generic (ADOS-G) and the Autism Diagnostic Interview (ADI-R). The participants, aged 5–80 years, comprised 33 males and 31 females with full mutation, 7 males and 43 females with premutation, and 38 non-fragile X relatives (29 males, 9 females). In the full mutation group, a total of 67% males and 23% females met either the Autism Disorder (AD) or the Autism Spectrum Disorder (ASD) criteria on at least one of the diagnostic tests. In the premutation group, 14% males and 5% females met the ADOS-G criteria for ASD. The presence of autism manifestations in males and females with full mutation and premutation provide support for a spectrum view. En ligne : http://dx.doi.org/10.1007/s10803-006-0205-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=977 [article] Autism Spectrum Phenotype in Males and Females with Fragile X Full Mutation and Premutation [texte imprimé] / Sally M. CLIFFORD, Auteur ; Cheryl DISSANAYAKE, Auteur ; Quang M. BUI, Auteur ; Richard HUGGINS, Auteur ; Annette K. TAYLOR, Auteur ; Danuta Z. LOESCH, Auteur . - 2007 . - p.738-747. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 37-4 (April 2007) . - p.738-747 Mots-clés : Fragile-X-syndrome-(FXS) Fragile-X-premutation-(FXP) Autism-Spectrum-Disorder-(ASD) Autism-Diagnostic-Observation-Schedule- Generic-(ADOS-G) Autism-Diagnostic-Interview-Revised-(ADI-R) Index. décimale : PER Périodiques Résumé : The behavioural phenotype of autism was assessed in individuals with full mutation and premutation fragile X syndrome (FXS) using the Autism Diagnostic Observation Scale-Generic (ADOS-G) and the Autism Diagnostic Interview (ADI-R). The participants, aged 5–80 years, comprised 33 males and 31 females with full mutation, 7 males and 43 females with premutation, and 38 non-fragile X relatives (29 males, 9 females). In the full mutation group, a total of 67% males and 23% females met either the Autism Disorder (AD) or the Autism Spectrum Disorder (ASD) criteria on at least one of the diagnostic tests. In the premutation group, 14% males and 5% females met the ADOS-G criteria for ASD. The presence of autism manifestations in males and females with full mutation and premutation provide support for a spectrum view. En ligne : http://dx.doi.org/10.1007/s10803-006-0205-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=977

Brain function and gaze fixation during facial-emotion processing in fragile X and autism / Kim M. DALTON in Autism Research, 1-4 (August 2008)  

Public ISBD [article]  inAutism Research > 1-4 (August 2008) . - p.231-239 Titre : Brain function and gaze fixation during facial-emotion processing in fragile X and autism Type de document : texte imprimé Auteurs : Kim M. DALTON, Auteur ; Laura HOLSEN, Auteur ; Leonard ABBEDUTO, Auteur ; Richard J. DAVIDSON, Auteur Année de publication : 2008 Article en page(s) : p.231-239 Langues : Anglais (eng) Mots-clés : fragile-X-syndrome autism face-processing brain-function fMRI Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is the most commonly known genetic disorder associated with autism spectrum disorder (ASD). Overlapping features in these populations include gaze aversion, communication deficits, and social withdrawal. Although the association between FXS and ASD has been well documented at the behavioral level, the underlying neural mechanisms associated with the social/emotional deficits in these groups remain unclear. We collected functional brain images and eye-gaze fixations from 9 individuals with FXS and 14 individuals with idiopathic ASD, as well as 15 typically developing (TD) individuals, while they performed a facial-emotion discrimination task. The FXS group showed a similar yet less aberrant pattern of gaze fixations compared with the ASD group. The FXS group also showed fusiform gyrus (FG) hypoactivation compared with the TD control group. Activation in FG was strongly and positively associated with average eye fixation and negatively associated with ASD characteristics in the FXS group. The FXS group displayed significantly greater activation than both the TD control and ASD groups in the left hippocampus (HIPP), left superior temporal gyrus (STG), right insula (INS), and left postcentral gyrus (PCG). These group differences in brain activation are important as they suggest unique underlying face-processing neural circuitry in FXS versus idiopathic ASD, largely supporting the hypothesis that ASD characteristics in FXS and idiopathic ASD reflect partially divergent impairments at the neural level, at least in FXS individuals without a co-morbid diagnosis of ASD. En ligne : http://dx.doi.org/10.1002/aur.32 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=932 [article] Brain function and gaze fixation during facial-emotion processing in fragile X and autism [texte imprimé] / Kim M. DALTON, Auteur ; Laura HOLSEN, Auteur ; Leonard ABBEDUTO, Auteur ; Richard J. DAVIDSON, Auteur . - 2008 . - p.231-239. Langues : Anglais (eng) in Autism Research > 1-4 (August 2008) . - p.231-239 Mots-clés : fragile-X-syndrome autism face-processing brain-function fMRI Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is the most commonly known genetic disorder associated with autism spectrum disorder (ASD). Overlapping features in these populations include gaze aversion, communication deficits, and social withdrawal. Although the association between FXS and ASD has been well documented at the behavioral level, the underlying neural mechanisms associated with the social/emotional deficits in these groups remain unclear. We collected functional brain images and eye-gaze fixations from 9 individuals with FXS and 14 individuals with idiopathic ASD, as well as 15 typically developing (TD) individuals, while they performed a facial-emotion discrimination task. The FXS group showed a similar yet less aberrant pattern of gaze fixations compared with the ASD group. The FXS group also showed fusiform gyrus (FG) hypoactivation compared with the TD control group. Activation in FG was strongly and positively associated with average eye fixation and negatively associated with ASD characteristics in the FXS group. The FXS group displayed significantly greater activation than both the TD control and ASD groups in the left hippocampus (HIPP), left superior temporal gyrus (STG), right insula (INS), and left postcentral gyrus (PCG). These group differences in brain activation are important as they suggest unique underlying face-processing neural circuitry in FXS versus idiopathic ASD, largely supporting the hypothesis that ASD characteristics in FXS and idiopathic ASD reflect partially divergent impairments at the neural level, at least in FXS individuals without a co-morbid diagnosis of ASD. En ligne : http://dx.doi.org/10.1002/aur.32 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=932

Characterization of Potential Outcome Measures for Future Clinical Trials in Fragile X Syndrome / Elizabeth BERRY-KRAVIS in Journal of Autism and Developmental Disorders, 38-9 (October 2008)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 38-9 (October 2008) . - p.1751-1757 Titre : Characterization of Potential Outcome Measures for Future Clinical Trials in Fragile X Syndrome Type de document : texte imprimé Auteurs : Elizabeth BERRY-KRAVIS, Auteur ; Allison SUMIS, Auteur ; Ok-Kyung KIM, Auteur ; Rebecca LARA, Auteur ; Joanne WUU, Auteur Année de publication : 2008 Article en page(s) : p.1751-1757 Langues : Anglais (eng) Mots-clés : Fragile-X-syndrome Clinical-trials Outcome-measures FMR1 Index. décimale : PER Périodiques Résumé : Clinical trials targeting recently elucidated synaptic defects in fragile X syndrome (FXS) will require outcome measures capable of assessing short-term changes in cognitive functioning. Potentially useful measures for FXS were evaluated here in a test–retest setting in males and females with FXS (N = 46). Good reproducibility, determined by an interclass correlation (ICC) or weighted kappa (κ) of 0.7–0.9 was seen for RBANS List and Story Memory, NEPSY Tower, Woodcock–Johnson Spatial Relations and the commissions score from the Carolina Fragile X Project Continuous Performance Test (CPT). This study demonstrates the feasibility of generating test profiles containing reliability data, ability levels required for test performance, and refusal rates to assist with choice of outcome measures in FXS and other cohorts with cognitive disability. En ligne : http://dx.doi.org/10.1007/s10803-008-0564-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=605 [article] Characterization of Potential Outcome Measures for Future Clinical Trials in Fragile X Syndrome [texte imprimé] / Elizabeth BERRY-KRAVIS, Auteur ; Allison SUMIS, Auteur ; Ok-Kyung KIM, Auteur ; Rebecca LARA, Auteur ; Joanne WUU, Auteur . - 2008 . - p.1751-1757. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 38-9 (October 2008) . - p.1751-1757 Mots-clés : Fragile-X-syndrome Clinical-trials Outcome-measures FMR1 Index. décimale : PER Périodiques Résumé : Clinical trials targeting recently elucidated synaptic defects in fragile X syndrome (FXS) will require outcome measures capable of assessing short-term changes in cognitive functioning. Potentially useful measures for FXS were evaluated here in a test–retest setting in males and females with FXS (N = 46). Good reproducibility, determined by an interclass correlation (ICC) or weighted kappa (κ) of 0.7–0.9 was seen for RBANS List and Story Memory, NEPSY Tower, Woodcock–Johnson Spatial Relations and the commissions score from the Carolina Fragile X Project Continuous Performance Test (CPT). This study demonstrates the feasibility of generating test profiles containing reliability data, ability levels required for test performance, and refusal rates to assist with choice of outcome measures in FXS and other cohorts with cognitive disability. En ligne : http://dx.doi.org/10.1007/s10803-008-0564-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=605

Social behavior and cortisol reactivity in children with fragile X syndrome / David HESSL in Journal of Child Psychology and Psychiatry, 47-6 (June 2006)  

Public ISBD [article]  inJournal of Child Psychology and Psychiatry > 47-6 (June 2006) . - p.602–610 Titre : Social behavior and cortisol reactivity in children with fragile X syndrome Type de document : texte imprimé Auteurs : David HESSL, Auteur ; Bronwyn GLASER, Auteur ; Jennifer DYER-FRIEDMAN, Auteur ; Allan L. REISS, Auteur Année de publication : 2006 Article en page(s) : p.602–610 Langues : Anglais (eng) Mots-clés : Fragile-X-syndrome cortisol anxiety social-phobia FMR1-gene gaze autism Index. décimale : PER Périodiques Résumé : Objective: To examine the association between limbic-hypothalamic-pituitary-adrenal (L-HPA) axis reactivity and social behavior in children with fragile X syndrome (FXS). Method: Salivary cortisol changes and concurrent anxiety-related behaviors consistent with the behavioral phenotype of FXS were measured in 90 children with the fragile X full mutation and their 90 unaffected siblings during a social challenge task in the home. Results: Boys and girls with FXS demonstrated more gaze aversion, task avoidance, behavioral signs of distress, and poorer vocal quality than the unaffected siblings. Multiple regression analyses showed that after accounting for effects of IQ, gender, age, quality of the home environment, and basal cortisol level, cortisol reactivity to the task was significantly associated with social gaze in children with FXS. The most gaze-aversive children with FXS had cortisol reductions, whereas those with more eye contact demonstrated the most cortisol reactivity. Unaffected siblings demonstrated an opposite pattern in which less eye contact was associated with increased cortisol reactivity. Conclusions: Results of the study suggest a unique relation between abnormal gaze behavior and L-HPA mediated stress reactivity in FXS. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2005.01556.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=745 [article] Social behavior and cortisol reactivity in children with fragile X syndrome [texte imprimé] / David HESSL, Auteur ; Bronwyn GLASER, Auteur ; Jennifer DYER-FRIEDMAN, Auteur ; Allan L. REISS, Auteur . - 2006 . - p.602–610. Langues : Anglais (eng) in Journal of Child Psychology and Psychiatry > 47-6 (June 2006) . - p.602–610 Mots-clés : Fragile-X-syndrome cortisol anxiety social-phobia FMR1-gene gaze autism Index. décimale : PER Périodiques Résumé : Objective: To examine the association between limbic-hypothalamic-pituitary-adrenal (L-HPA) axis reactivity and social behavior in children with fragile X syndrome (FXS). Method: Salivary cortisol changes and concurrent anxiety-related behaviors consistent with the behavioral phenotype of FXS were measured in 90 children with the fragile X full mutation and their 90 unaffected siblings during a social challenge task in the home. Results: Boys and girls with FXS demonstrated more gaze aversion, task avoidance, behavioral signs of distress, and poorer vocal quality than the unaffected siblings. Multiple regression analyses showed that after accounting for effects of IQ, gender, age, quality of the home environment, and basal cortisol level, cortisol reactivity to the task was significantly associated with social gaze in children with FXS. The most gaze-aversive children with FXS had cortisol reductions, whereas those with more eye contact demonstrated the most cortisol reactivity. Unaffected siblings demonstrated an opposite pattern in which less eye contact was associated with increased cortisol reactivity. Conclusions: Results of the study suggest a unique relation between abnormal gaze behavior and L-HPA mediated stress reactivity in FXS. En ligne : http://dx.doi.org/10.1111/j.1469-7610.2005.01556.x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=745

Acamprosate in a mouse model of fragile X syndrome: modulation of spontaneous cortical activity, ERK1/2 activation, locomotor behavior, and anxiety / Tori L. SCHAEFER in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.6 Titre : Acamprosate in a mouse model of fragile X syndrome: modulation of spontaneous cortical activity, ERK1/2 activation, locomotor behavior, and anxiety Type de document : texte imprimé Auteurs : Tori L. SCHAEFER, Auteur ; Matthew H. DAVENPORT, Auteur ; Lindsay M. GRAINGER, Auteur ; Chandler K. ROBINSON, Auteur ; Anthony T. EARNHEART, Auteur ; Melinda S. STEGMAN, Auteur ; Anna L. LANG, Auteur ; Amy A. ASHWORTH, Auteur ; Gemma MOLINARO, Auteur ; Kimberly M. HUBER, Auteur ; Craig ERICKSON, Auteur Article en page(s) : p.6 Langues : Anglais (eng) Mots-clés : Anxiety  Dendritic spine density  Electrophysiology  Extracellular signal-related kinase  Fragile X syndrome  Hippocampus  Hyperactivity  Open field  Striatum Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X Syndrome (FXS) occurs as a result of a silenced fragile X mental retardation 1 gene (FMR1) and subsequent loss of fragile X mental retardation protein (FMRP) expression. Loss of FMRP alters excitatory/inhibitory signaling balance, leading to increased neuronal hyperexcitability and altered behavior. Acamprosate (the calcium salt of N-acetylhomotaurinate), a drug FDA-approved for relapse prevention in the treatment of alcohol dependence in adults, is a novel agent with multiple mechanisms that may be beneficial for people with FXS. There are questions regarding the neuroactive effects of acamprosate and the significance of the molecule's calcium moiety. Therefore, the electrophysiological, cellular, molecular, and behavioral effects of acamprosate were assessed in the Fmr1(-/y) (knock out; KO) mouse model of FXS controlling for the calcium salt in several experiments. METHODS: Fmr1 KO mice and their wild-type (WT) littermates were utilized to assess acamprosate treatment on cortical UP state parameters, dendritic spine density, and seizure susceptibility. Brain extracellular-signal regulated kinase 1/2 (ERK1/2) activation was used to investigate this signaling molecule as a potential biomarker for treatment response. Additional adult mice were used to assess chronic acamprosate treatment and any potential effects of the calcium moiety using CaCl2 treatment on behavior and nuclear ERK1/2 activation. RESULTS: Acamprosate attenuated prolonged cortical UP state duration, decreased elevated ERK1/2 activation in brain tissue, and reduced nuclear ERK1/2 activation in the dentate gyrus in KO mice. Acamprosate treatment modified behavior in anxiety and locomotor tests in Fmr1 KO mice in which control-treated KO mice were shown to deviate from control-treated WT mice. Mice treated with CaCl2 were not different from saline-treated mice in the adult behavior battery or nuclear ERK1/2 activation. CONCLUSIONS: These data indicate that acamprosate, and not calcium, improves function reminiscent of reduced anxiety-like behavior and hyperactivity in Fmr1 KO mice and that acamprosate attenuates select electrophysiological and molecular dysregulation that may play a role in the pathophysiology of FXS. Differences between control-treated KO and WT mice were not evident in a recognition memory test or in examination of acoustic startle response/prepulse inhibition which impeded conclusions from being made about the treatment effects of acamprosate in these instances. En ligne : http://dx.doi.org/10.1186/s11689-017-9184-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=349 [article] Acamprosate in a mouse model of fragile X syndrome: modulation of spontaneous cortical activity, ERK1/2 activation, locomotor behavior, and anxiety [texte imprimé] / Tori L. SCHAEFER, Auteur ; Matthew H. DAVENPORT, Auteur ; Lindsay M. GRAINGER, Auteur ; Chandler K. ROBINSON, Auteur ; Anthony T. EARNHEART, Auteur ; Melinda S. STEGMAN, Auteur ; Anna L. LANG, Auteur ; Amy A. ASHWORTH, Auteur ; Gemma MOLINARO, Auteur ; Kimberly M. HUBER, Auteur ; Craig ERICKSON, Auteur . - p.6. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.6 Mots-clés : Anxiety  Dendritic spine density  Electrophysiology  Extracellular signal-related kinase  Fragile X syndrome  Hippocampus  Hyperactivity  Open field  Striatum Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X Syndrome (FXS) occurs as a result of a silenced fragile X mental retardation 1 gene (FMR1) and subsequent loss of fragile X mental retardation protein (FMRP) expression. Loss of FMRP alters excitatory/inhibitory signaling balance, leading to increased neuronal hyperexcitability and altered behavior. Acamprosate (the calcium salt of N-acetylhomotaurinate), a drug FDA-approved for relapse prevention in the treatment of alcohol dependence in adults, is a novel agent with multiple mechanisms that may be beneficial for people with FXS. There are questions regarding the neuroactive effects of acamprosate and the significance of the molecule's calcium moiety. Therefore, the electrophysiological, cellular, molecular, and behavioral effects of acamprosate were assessed in the Fmr1(-/y) (knock out; KO) mouse model of FXS controlling for the calcium salt in several experiments. METHODS: Fmr1 KO mice and their wild-type (WT) littermates were utilized to assess acamprosate treatment on cortical UP state parameters, dendritic spine density, and seizure susceptibility. Brain extracellular-signal regulated kinase 1/2 (ERK1/2) activation was used to investigate this signaling molecule as a potential biomarker for treatment response. Additional adult mice were used to assess chronic acamprosate treatment and any potential effects of the calcium moiety using CaCl2 treatment on behavior and nuclear ERK1/2 activation. RESULTS: Acamprosate attenuated prolonged cortical UP state duration, decreased elevated ERK1/2 activation in brain tissue, and reduced nuclear ERK1/2 activation in the dentate gyrus in KO mice. Acamprosate treatment modified behavior in anxiety and locomotor tests in Fmr1 KO mice in which control-treated KO mice were shown to deviate from control-treated WT mice. Mice treated with CaCl2 were not different from saline-treated mice in the adult behavior battery or nuclear ERK1/2 activation. CONCLUSIONS: These data indicate that acamprosate, and not calcium, improves function reminiscent of reduced anxiety-like behavior and hyperactivity in Fmr1 KO mice and that acamprosate attenuates select electrophysiological and molecular dysregulation that may play a role in the pathophysiology of FXS. Differences between control-treated KO and WT mice were not evident in a recognition memory test or in examination of acoustic startle response/prepulse inhibition which impeded conclusions from being made about the treatment effects of acamprosate in these instances. En ligne : http://dx.doi.org/10.1186/s11689-017-9184-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=349

Acoustic properties of early vocalizations in infants with fragile X syndrome / Lisa R. HAMRICK in Autism Research, 12-11 (November 2019)  

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Acute administration of NLX-101, a Serotonin 1A receptor agonist, improves auditory temporal processing during development in a mouse model of Fragile X Syndrome / Xin TAO in Journal of Neurodevelopmental Disorders, 17 (2025)  

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Adaptive skill trajectories in infants with fragile X syndrome contrasted to typical controls and infants at high risk for autism / Kelly E. CARAVELLA in Research in Autism Spectrum Disorders, 40 (August 2017)  

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Age-specific autistic-like behaviors in heterozygous Fmr1-KO female mice / Manon GAUDUCHEAU in Autism Research, 10-6 (June 2017)  

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Altered Auditory Maturation in Fragile X Syndrome and Its Involvement in Audiogenic Seizure Susceptibility / Dorit MÖHRLE in Autism Research, 19-1 (January 2026)  

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