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in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Titre : FMRP and the Pathophysiology of Fragile X Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Stephanie A. BARNES, Auteur ; Sophie R. THOMSON, Auteur ; Peter C. KIND, Auteur ; Emily K. OSTERWEIL, Auteur Année de publication : 2016 Importance : p.113-128 Langues : Anglais (eng) Mots-clés : ERK FMR1 FMRP Fragile X mGluR1/5 Protein synthesis Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Fragile X syndrome (FXS) is a single-gene disorder that is the most prevalent heritable cause of intellectual disability and one of the most common single-gene causes of autism spectrum disorder (ASD). Although there is a clear genetic origin of FXS, there is still much to learn about the cellular and physiological consequences of FMR1 mutation. This knowledge is critical to the development of treatments to target the core pathophysiology of FXS. In this chapter, we summarize what is known about the function of the FMR1 gene and the encoded Fragile X mental retardation protein and describe the major cellular and neurophysiological phenotypes observed in the FXS mouse model. We then discuss evidence supporting the metabotropic glutamate receptor (mGluR) theory of Fragile X, which states that dysregulated protein synthesis downstream of mGluR1/5 is a core contributor to the pathogenesis of FXS. The remainder of the chapter will be devoted to discussing the clinical implications of this research and its relevance to the wider ASD population. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00008-X Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 FMRP and the Pathophysiology of Fragile X Syndrome [Texte imprimé et/ou numérique] / Stephanie A. BARNES, Auteur ; Sophie R. THOMSON, Auteur ; Peter C. KIND, Auteur ; Emily K. OSTERWEIL, Auteur . - 2016 . - p.113-128.
in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Langues : Anglais (eng)
Mots-clés : ERK FMR1 FMRP Fragile X mGluR1/5 Protein synthesis Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Fragile X syndrome (FXS) is a single-gene disorder that is the most prevalent heritable cause of intellectual disability and one of the most common single-gene causes of autism spectrum disorder (ASD). Although there is a clear genetic origin of FXS, there is still much to learn about the cellular and physiological consequences of FMR1 mutation. This knowledge is critical to the development of treatments to target the core pathophysiology of FXS. In this chapter, we summarize what is known about the function of the FMR1 gene and the encoded Fragile X mental retardation protein and describe the major cellular and neurophysiological phenotypes observed in the FXS mouse model. We then discuss evidence supporting the metabotropic glutamate receptor (mGluR) theory of Fragile X, which states that dysregulated protein synthesis downstream of mGluR1/5 is a core contributor to the pathogenesis of FXS. The remainder of the chapter will be devoted to discussing the clinical implications of this research and its relevance to the wider ASD population. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00008-X Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire ASD Comorbidity in Fragile X Syndrome: Symptom Profile and Predictors of Symptom Severity in Adolescent and Young Adult Males / Leonard ABBEDUTO in Journal of Autism and Developmental Disorders, 49-3 (March 2019)
[article]
Titre : ASD Comorbidity in Fragile X Syndrome: Symptom Profile and Predictors of Symptom Severity in Adolescent and Young Adult Males Type de document : Texte imprimé et/ou numérique Auteurs : Leonard ABBEDUTO, Auteur ; A. J. THURMAN, Auteur ; A. MCDUFFIE, Auteur ; J. KLUSEK, Auteur ; R. T. FEIGLES, Auteur ; W. Ted BROWN, Auteur ; D. J. HARVEY, Auteur ; T. ADAYEV, Auteur ; G. LAFAUCI, Auteur ; C. DOBKINS, Auteur ; J. E. ROBERTS, Auteur Article en page(s) : p.960-977 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Fmrp Fragile X syndrome Iq Language Psychiatric symptoms Index. décimale : PER Périodiques Résumé : Many males with FXS meet criteria for ASD. This study was designed to (1) describe ASD symptoms in adolescent and young adult males with FXS (n = 44) and (2) evaluate the contributions to ASD severity of cognitive, language, and psychiatric factors, as well as FMRP (the protein deficient in FXS). A few ASD symptoms on the ADOS-2 were universal in the sample. There was less impairment in restricted and repetitive behaviors (RRB) than in the social affective (SA) domain. The best predictor of overall ASD severity and SA severity was expressive syntactic ability. RRB severity was best predicted by the psychiatric factors. Implications for clinical practice and for understanding the ASD comorbidity in FXS are discussed. En ligne : http://dx.doi.org/10.1007/s10803-018-3796-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386
in Journal of Autism and Developmental Disorders > 49-3 (March 2019) . - p.960-977[article] ASD Comorbidity in Fragile X Syndrome: Symptom Profile and Predictors of Symptom Severity in Adolescent and Young Adult Males [Texte imprimé et/ou numérique] / Leonard ABBEDUTO, Auteur ; A. J. THURMAN, Auteur ; A. MCDUFFIE, Auteur ; J. KLUSEK, Auteur ; R. T. FEIGLES, Auteur ; W. Ted BROWN, Auteur ; D. J. HARVEY, Auteur ; T. ADAYEV, Auteur ; G. LAFAUCI, Auteur ; C. DOBKINS, Auteur ; J. E. ROBERTS, Auteur . - p.960-977.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 49-3 (March 2019) . - p.960-977
Mots-clés : Autism spectrum disorder Fmrp Fragile X syndrome Iq Language Psychiatric symptoms Index. décimale : PER Périodiques Résumé : Many males with FXS meet criteria for ASD. This study was designed to (1) describe ASD symptoms in adolescent and young adult males with FXS (n = 44) and (2) evaluate the contributions to ASD severity of cognitive, language, and psychiatric factors, as well as FMRP (the protein deficient in FXS). A few ASD symptoms on the ADOS-2 were universal in the sample. There was less impairment in restricted and repetitive behaviors (RRB) than in the social affective (SA) domain. The best predictor of overall ASD severity and SA severity was expressive syntactic ability. RRB severity was best predicted by the psychiatric factors. Implications for clinical practice and for understanding the ASD comorbidity in FXS are discussed. En ligne : http://dx.doi.org/10.1007/s10803-018-3796-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 Deletion of Fmr1 in parvalbumin-expressing neurons results in dysregulated translation and selective behavioral deficits associated with fragile X syndrome / Magdalena KALINOWSKA in Molecular Autism, 13 (2022)
[article]
Titre : Deletion of Fmr1 in parvalbumin-expressing neurons results in dysregulated translation and selective behavioral deficits associated with fragile X syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Magdalena KALINOWSKA, Auteur ; Mathijs B. VAN DER LEI, Auteur ; Michael KITIASHVILI, Auteur ; Maggie MAMCARZ, Auteur ; Mauricio M. OLIVEIRA, Auteur ; Francesco LONGO, Auteur ; Eric KLANN, Auteur Article en page(s) : 29 p. Langues : Anglais (eng) Mots-clés : Animals Autism Spectrum Disorder/metabolism Disease Models, Animal Fragile X Mental Retardation Protein/genetics/metabolism Fragile X Syndrome/genetics/metabolism/pathology Mice Mice, Knockout Neurons/metabolism/pathology Parvalbumins/metabolism RNA, Messenger/metabolism Somatostatin/metabolism Autism Behavior Fmrp Fragile X syndrome Inhibitory neurons Protein synthesis Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome (FXS), the most common genetic cause of autism spectrum disorder and intellectual disability, is caused by the lack of fragile X mental retardation protein (FMRP) expression. FMRP is an mRNA binding protein with functions in mRNA transport, localization, and translational control. In Fmr1 knockout mice, dysregulated translation has been linked to pathophysiology, including abnormal synaptic function and dendritic morphology, and autistic-like behavioral phenotypes. The role of FMRP in morphology and function of excitatory neurons has been well studied in mice lacking Fmr1, but the impact of Fmr1 deletion on inhibitory neurons remains less characterized. Moreover, the contribution of FMRP in different cell types to FXS pathophysiology is not well defined. We sought to characterize whether FMRP loss in parvalbumin or somatostatin-expressing neurons results in FXS-like deficits in mice. METHODS: We used Cre-lox recombinase technology to generate two lines of conditional knockout mice lacking FMRP in either parvalbumin or somatostatin-expressing cells and carried out a battery of behavioral tests to assess motor function, anxiety, repetitive, stereotypic, social behaviors, and learning and memory. In addition, we used fluorescent non-canonical amino acid tagging along with immunostaining to determine whether de novo protein synthesis is dysregulated in parvalbumin or somatostatin-expressing neurons. RESULTS: De novo protein synthesis was elevated in hippocampal parvalbumin and somatostatin-expressing inhibitory neurons in Fmr1 knockout mice. Cell type-specific deletion of Fmr1 in parvalbumin-expressing neurons resulted in anxiety-like behavior, impaired social behavior, and dysregulated de novo protein synthesis. In contrast, deletion of Fmr1 in somatostatin-expressing neurons did not result in behavioral abnormalities and did not significantly impact de novo protein synthesis. This is the first report of how loss of FMRP in two specific subtypes of inhibitory neurons is associated with distinct FXS-like abnormalities. LIMITATIONS: The mouse models we generated are limited by whole body knockout of FMRP in parvalbumin or somatostatin-expressing cells and further studies are needed to establish a causal relationship between cellular deficits and FXS-like behaviors. CONCLUSIONS: Our findings indicate a cell type-specific role for FMRP in parvalbumin-expressing neurons in regulating distinct behavioral features associated with FXS. En ligne : http://dx.doi.org/10.1186/s13229-022-00509-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=491
in Molecular Autism > 13 (2022) . - 29 p.[article] Deletion of Fmr1 in parvalbumin-expressing neurons results in dysregulated translation and selective behavioral deficits associated with fragile X syndrome [Texte imprimé et/ou numérique] / Magdalena KALINOWSKA, Auteur ; Mathijs B. VAN DER LEI, Auteur ; Michael KITIASHVILI, Auteur ; Maggie MAMCARZ, Auteur ; Mauricio M. OLIVEIRA, Auteur ; Francesco LONGO, Auteur ; Eric KLANN, Auteur . - 29 p.
Langues : Anglais (eng)
in Molecular Autism > 13 (2022) . - 29 p.
Mots-clés : Animals Autism Spectrum Disorder/metabolism Disease Models, Animal Fragile X Mental Retardation Protein/genetics/metabolism Fragile X Syndrome/genetics/metabolism/pathology Mice Mice, Knockout Neurons/metabolism/pathology Parvalbumins/metabolism RNA, Messenger/metabolism Somatostatin/metabolism Autism Behavior Fmrp Fragile X syndrome Inhibitory neurons Protein synthesis Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome (FXS), the most common genetic cause of autism spectrum disorder and intellectual disability, is caused by the lack of fragile X mental retardation protein (FMRP) expression. FMRP is an mRNA binding protein with functions in mRNA transport, localization, and translational control. In Fmr1 knockout mice, dysregulated translation has been linked to pathophysiology, including abnormal synaptic function and dendritic morphology, and autistic-like behavioral phenotypes. The role of FMRP in morphology and function of excitatory neurons has been well studied in mice lacking Fmr1, but the impact of Fmr1 deletion on inhibitory neurons remains less characterized. Moreover, the contribution of FMRP in different cell types to FXS pathophysiology is not well defined. We sought to characterize whether FMRP loss in parvalbumin or somatostatin-expressing neurons results in FXS-like deficits in mice. METHODS: We used Cre-lox recombinase technology to generate two lines of conditional knockout mice lacking FMRP in either parvalbumin or somatostatin-expressing cells and carried out a battery of behavioral tests to assess motor function, anxiety, repetitive, stereotypic, social behaviors, and learning and memory. In addition, we used fluorescent non-canonical amino acid tagging along with immunostaining to determine whether de novo protein synthesis is dysregulated in parvalbumin or somatostatin-expressing neurons. RESULTS: De novo protein synthesis was elevated in hippocampal parvalbumin and somatostatin-expressing inhibitory neurons in Fmr1 knockout mice. Cell type-specific deletion of Fmr1 in parvalbumin-expressing neurons resulted in anxiety-like behavior, impaired social behavior, and dysregulated de novo protein synthesis. In contrast, deletion of Fmr1 in somatostatin-expressing neurons did not result in behavioral abnormalities and did not significantly impact de novo protein synthesis. This is the first report of how loss of FMRP in two specific subtypes of inhibitory neurons is associated with distinct FXS-like abnormalities. LIMITATIONS: The mouse models we generated are limited by whole body knockout of FMRP in parvalbumin or somatostatin-expressing cells and further studies are needed to establish a causal relationship between cellular deficits and FXS-like behaviors. CONCLUSIONS: Our findings indicate a cell type-specific role for FMRP in parvalbumin-expressing neurons in regulating distinct behavioral features associated with FXS. En ligne : http://dx.doi.org/10.1186/s13229-022-00509-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=491 Genetic and maternal predictors of cognitive and behavioral trajectories in females with fragile X syndrome / L. DEL HOYO SORIANO in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)
[article]
Titre : Genetic and maternal predictors of cognitive and behavioral trajectories in females with fragile X syndrome Type de document : Texte imprimé et/ou numérique Auteurs : L. DEL HOYO SORIANO, Auteur ; A. J. THURMAN, Auteur ; D. J. HARVEY, Auteur ; W. Ted BROWN, Auteur ; Leonard ABBEDUTO, Auteur Année de publication : 2018 Article en page(s) : 22 p. Langues : Anglais (eng) Mots-clés : Anxiety Closeness in the mother-child relationship Crystallized intelligence Fmrp Females with FXS Fluid intelligence Longitudinal Maternal psychological distress Ratio of affected to total chromosomes Withdrawal Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome (FXS) is caused by a mutation in the FMR1 gene on the X chromosome, leading to decreased levels of FMR1 protein (FMRP), which causes the array of neuropsychological impairments that define FXS. Because FXS is an X-linked condition, fewer females display FXS and females with FXS are more mildly affected than males, on average. However, there is a considerable variability in terms of severity of affectedness among females with FXS. The current study was designed to investigate potential genetic (FMRP level and ratio of affected to total chromosomes) and environmental factors (maternal psychological distress and closeness in the mother-child relationship) influencing the cognitive (fluid and crystallized intelligence) and behavioral (anxiety and withdrawal) phenotype of females with FXS. METHODS: We conducted a prospective 3-year longitudinal study of 16 females with FXS (with up to four assessments, each separated by a year) using an accelerated longitudinal design so that we had coverage of the age range of 10-15 years at study start and 13-18 at study end. We focused on both the level of functioning related to chronological age expectations (standard scores) and absolute change in skill (raw scores) over the 3-year period. RESULTS: At a cross-sectional level, fluid intelligence and crystallized intelligence were both predicted by a closer mother-child relationship and lower maternal psychological distress. However, only fluid intelligence was predicted by a lower ratio of affected to total chromosomes. Anxiety and withdrawal were predicted by a higher ratio of affected to total chromosomes. Withdrawal was also predicted by lower closeness in the mother-child relationship and higher maternal distress. In terms of longitudinal change, gains were observed in fluid and crystallized intelligence, whereas anxious and withdrawn behaviors remained stable over visits. Gains in fluid intelligence were solely predicted by FXS biomarkers (higher FMRP level and lower ratio of affected to total chromosomes), while gains in crystallized intelligence were not predicted by any of the biological and environmental variables. CONCLUSIONS: Our results show that FXS biomarkers and maternal variables contribute differentially to the cognitive and behavioral features of the adolescent female with FXS. These findings can help in the design of treatment studies aimed at enhancing cognitive and behavioral abilities in the FXS population. En ligne : http://dx.doi.org/10.1186/s11689-018-9240-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386
in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 22 p.[article] Genetic and maternal predictors of cognitive and behavioral trajectories in females with fragile X syndrome [Texte imprimé et/ou numérique] / L. DEL HOYO SORIANO, Auteur ; A. J. THURMAN, Auteur ; D. J. HARVEY, Auteur ; W. Ted BROWN, Auteur ; Leonard ABBEDUTO, Auteur . - 2018 . - 22 p.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 22 p.
Mots-clés : Anxiety Closeness in the mother-child relationship Crystallized intelligence Fmrp Females with FXS Fluid intelligence Longitudinal Maternal psychological distress Ratio of affected to total chromosomes Withdrawal Index. décimale : PER Périodiques Résumé : BACKGROUND: Fragile X syndrome (FXS) is caused by a mutation in the FMR1 gene on the X chromosome, leading to decreased levels of FMR1 protein (FMRP), which causes the array of neuropsychological impairments that define FXS. Because FXS is an X-linked condition, fewer females display FXS and females with FXS are more mildly affected than males, on average. However, there is a considerable variability in terms of severity of affectedness among females with FXS. The current study was designed to investigate potential genetic (FMRP level and ratio of affected to total chromosomes) and environmental factors (maternal psychological distress and closeness in the mother-child relationship) influencing the cognitive (fluid and crystallized intelligence) and behavioral (anxiety and withdrawal) phenotype of females with FXS. METHODS: We conducted a prospective 3-year longitudinal study of 16 females with FXS (with up to four assessments, each separated by a year) using an accelerated longitudinal design so that we had coverage of the age range of 10-15 years at study start and 13-18 at study end. We focused on both the level of functioning related to chronological age expectations (standard scores) and absolute change in skill (raw scores) over the 3-year period. RESULTS: At a cross-sectional level, fluid intelligence and crystallized intelligence were both predicted by a closer mother-child relationship and lower maternal psychological distress. However, only fluid intelligence was predicted by a lower ratio of affected to total chromosomes. Anxiety and withdrawal were predicted by a higher ratio of affected to total chromosomes. Withdrawal was also predicted by lower closeness in the mother-child relationship and higher maternal distress. In terms of longitudinal change, gains were observed in fluid and crystallized intelligence, whereas anxious and withdrawn behaviors remained stable over visits. Gains in fluid intelligence were solely predicted by FXS biomarkers (higher FMRP level and lower ratio of affected to total chromosomes), while gains in crystallized intelligence were not predicted by any of the biological and environmental variables. CONCLUSIONS: Our results show that FXS biomarkers and maternal variables contribute differentially to the cognitive and behavioral features of the adolescent female with FXS. These findings can help in the design of treatment studies aimed at enhancing cognitive and behavioral abilities in the FXS population. En ligne : http://dx.doi.org/10.1186/s11689-018-9240-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety / J. KLUSEK in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)
[article]
Titre : Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety Type de document : Texte imprimé et/ou numérique Auteurs : J. KLUSEK, Auteur ; G. LAFAUCI, Auteur ; T. ADAYEV, Auteur ; W. Ted BROWN, Auteur ; F. TASSONE, Auteur ; J. E. ROBERTS, Auteur Article en page(s) : p.16 Langues : Anglais (eng) Mots-clés : FMR1 mRNA Fmrp Fragile X carriers Heart rate Physiological arousal Vagal tone Index. décimale : PER Périodiques Résumé : BACKGROUND: Autonomic dysfunction is implicated in a range of psychological conditions, including depression and anxiety. The fragile X mental retardation-1 (FMR1) premutation is a common genetic mutation that affects ~1:150 women and is associated with psychological vulnerability. This study examined cardiac indicators of autonomic function among women with the FMR1 premutation and control women as potential biomarkers for psychological risk that may be linked to FMR1. METHODS: Baseline inter-beat interval and respiratory sinus arrhythmia (a measure of parasympathetic vagal tone) were measured in 35 women with the FMR1 premutation and 28 controls. The women completed anxiety and depression questionnaires. FMR1 genetic indices (i.e., CGG repeat, quantitative FMRP, FMR1 mRNA, activation ratio) were obtained for the premutation group. RESULTS: Respiratory sinus arrhythmia was reduced in the FMR1 premutation group relative to controls. While depression symptoms were associated with reduced respiratory sinus arrhythmia among control women, these variables were unrelated in the FMR1 premutation. Elevated FMR1 mRNA was associated with higher respiratory sinus arrhythmia. CONCLUSIONS: Women with the FMR1 premutation demonstrated autonomic dysregulation characterized by reduced vagal tone. Unlike patterns observed in the general population and in study controls, vagal activity and depression symptoms were decoupled in women with the FMR1 premutation, suggesting independence between autonomic regulation and psychopathological symptoms that is atypical and potentially specific to the FMR1 premutation. The association between vagal tone and mRNA suggests that molecular variation associated with FMR1 plays a role in autonomic regulation. En ligne : http://dx.doi.org/10.1186/s11689-017-9197-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350
in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.16[article] Reduced vagal tone in women with the FMR1 premutation is associated with FMR1 mRNA but not depression or anxiety [Texte imprimé et/ou numérique] / J. KLUSEK, Auteur ; G. LAFAUCI, Auteur ; T. ADAYEV, Auteur ; W. Ted BROWN, Auteur ; F. TASSONE, Auteur ; J. E. ROBERTS, Auteur . - p.16.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.16
Mots-clés : FMR1 mRNA Fmrp Fragile X carriers Heart rate Physiological arousal Vagal tone Index. décimale : PER Périodiques Résumé : BACKGROUND: Autonomic dysfunction is implicated in a range of psychological conditions, including depression and anxiety. The fragile X mental retardation-1 (FMR1) premutation is a common genetic mutation that affects ~1:150 women and is associated with psychological vulnerability. This study examined cardiac indicators of autonomic function among women with the FMR1 premutation and control women as potential biomarkers for psychological risk that may be linked to FMR1. METHODS: Baseline inter-beat interval and respiratory sinus arrhythmia (a measure of parasympathetic vagal tone) were measured in 35 women with the FMR1 premutation and 28 controls. The women completed anxiety and depression questionnaires. FMR1 genetic indices (i.e., CGG repeat, quantitative FMRP, FMR1 mRNA, activation ratio) were obtained for the premutation group. RESULTS: Respiratory sinus arrhythmia was reduced in the FMR1 premutation group relative to controls. While depression symptoms were associated with reduced respiratory sinus arrhythmia among control women, these variables were unrelated in the FMR1 premutation. Elevated FMR1 mRNA was associated with higher respiratory sinus arrhythmia. CONCLUSIONS: Women with the FMR1 premutation demonstrated autonomic dysregulation characterized by reduced vagal tone. Unlike patterns observed in the general population and in study controls, vagal activity and depression symptoms were decoupled in women with the FMR1 premutation, suggesting independence between autonomic regulation and psychopathological symptoms that is atypical and potentially specific to the FMR1 premutation. The association between vagal tone and mRNA suggests that molecular variation associated with FMR1 plays a role in autonomic regulation. En ligne : http://dx.doi.org/10.1186/s11689-017-9197-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350 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)
PermalinkPermalinkMouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome / Robert F. BERMAN in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)
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