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 Auteurs : Jennifer L. BRUNO, Auteur ; Elizabeth Walter SHELLY, Auteur ; Eve-Marie QUINTIN, Auteur ; Maryam ROSTAMI, Auteur ; Sweta PATNAIK, Auteur ; Daniel SPIELMAN, Auteur ; Dirk MAYER, Auteur ; Meng GU, Auteur ; Amy A. LIGHTBODY, Auteur ; Allan 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] / Jennifer L. BRUNO, Auteur ; Elizabeth Walter SHELLY, Auteur ; Eve-Marie QUINTIN, Auteur ; Maryam ROSTAMI, Auteur ; Sweta PATNAIK, Auteur ; Daniel SPIELMAN, Auteur ; Dirk MAYER, Auteur ; Meng GU, Auteur ; Amy A. LIGHTBODY, Auteur ; Allan 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 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] / 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

Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome / Melissa RASPA ; Carla M. BANN ; Julia M. GABLE ; Holly K. HARRIS ; Dejan B. BUDIMIROVIC ; Reymundo LOZANO ; Elizabeth BERRY-KRAVIS ; Milen VELINOV ; Amy L. TALBOY ; Stephanie L. SHERMAN ; Walter E. KAUFMANN ; Marcy SCHUSTER ; Nicole TARTAGLIA ; Robyn A. FILIPINK ; Dejan B. BUDIMIROVIC ; Deborah BARBOUTH ; Amy A. LIGHTBODY ; Allan L. REISS ; Carol M. DELAHUNTY ; Randi J. HAGERMAN ; David HESSL ; Craig ERICKSON ; Gary FELDMAN ; Jonathan D. PICKER ; Ave M. LACHIEWICZ ; Holly K. HARRIS ; Amy N. ESLER ; Richard E. FRYE ; Patricia A. EVANS ; Mary Ann MORRIS ; Barbara HAAS-GIVLER ; Andrea L. GROPMAN ; Ryan S. UY ; Carie M. BUCHANAN ; Jean A. FRAZIER ; Stephanie M. MORRIS ; FORWARD CONSORTIUM in Journal of Autism and Developmental Disorders, 54-2 (February 2024)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 54-2 (February 2024) . - p.725-737 Titre : Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome Type de document : texte imprimé Auteurs : Melissa RASPA, Auteur ; Carla M. BANN, Auteur ; Julia M. GABLE, Auteur ; Holly K. HARRIS, Auteur ; Dejan B. BUDIMIROVIC, Auteur ; Reymundo LOZANO, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Milen VELINOV, Auteur ; Amy L. TALBOY, Auteur ; Stephanie L. SHERMAN, Auteur ; Walter E. KAUFMANN, Auteur ; Marcy SCHUSTER, Auteur ; Nicole TARTAGLIA, Auteur ; Robyn A. FILIPINK, Auteur ; Dejan B. BUDIMIROVIC, Auteur ; Deborah BARBOUTH, Auteur ; Amy A. LIGHTBODY, Auteur ; Allan L. REISS, Auteur ; Carol M. DELAHUNTY, Auteur ; Randi J. HAGERMAN, Auteur ; David HESSL, Auteur ; Craig ERICKSON, Auteur ; Gary FELDMAN, Auteur ; Jonathan D. PICKER, Auteur ; Ave M. LACHIEWICZ, Auteur ; Holly K. HARRIS, Auteur ; Amy N. ESLER, Auteur ; Richard E. FRYE, Auteur ; Patricia A. EVANS, Auteur ; Mary Ann MORRIS, Auteur ; Barbara HAAS-GIVLER, Auteur ; Andrea L. GROPMAN, Auteur ; Ryan S. UY, Auteur ; Carie M. BUCHANAN, Auteur ; Jean A. FRAZIER, Auteur ; Stephanie M. MORRIS, Auteur ; FORWARD CONSORTIUM, Auteur Article en page(s) : p.725-737 Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is characterized by variable neurobehavioral abnormalities, which leads to difficulties in developing and evaluating treatments and in determining accurate prognosis. We employed a pediatric cross-sectional sample (1,072 males, 338 females) from FORWARD, a clinic-based natural history study, to identify behavioral subtypes by latent class analysis. Input included co-occurring behavioral conditions, sleep and sensory problems, autistic behavior scales (SCQ, SRS-2), and the Aberrant Behavior Checklist revised for FXS (ABCFX). A 5-class solution yielded the most clinically meaningful, pharmacotherapy independent behavioral groups with distinctive SCQ, SRS-2, and ABCFX profiles, and adequate non-overlap (? 71%): ?Mild? (31%), ?Moderate without Social Impairment? (32%), ?Moderate with Social Impairment? (7%), ?Moderate with Disruptive Behavior? (20%), and ?Severe? (9%). Our findings support FXS subtyping, for improving clinical management and therapeutic development. En ligne : https://doi.org/10.1007/s10803-022-05821-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=520 [article] Latent Class Analysis Identifies Distinctive Behavioral Subtypes in Children with Fragile X Syndrome [texte imprimé] / Melissa RASPA, Auteur ; Carla M. BANN, Auteur ; Julia M. GABLE, Auteur ; Holly K. HARRIS, Auteur ; Dejan B. BUDIMIROVIC, Auteur ; Reymundo LOZANO, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Milen VELINOV, Auteur ; Amy L. TALBOY, Auteur ; Stephanie L. SHERMAN, Auteur ; Walter E. KAUFMANN, Auteur ; Marcy SCHUSTER, Auteur ; Nicole TARTAGLIA, Auteur ; Robyn A. FILIPINK, Auteur ; Dejan B. BUDIMIROVIC, Auteur ; Deborah BARBOUTH, Auteur ; Amy A. LIGHTBODY, Auteur ; Allan L. REISS, Auteur ; Carol M. DELAHUNTY, Auteur ; Randi J. HAGERMAN, Auteur ; David HESSL, Auteur ; Craig ERICKSON, Auteur ; Gary FELDMAN, Auteur ; Jonathan D. PICKER, Auteur ; Ave M. LACHIEWICZ, Auteur ; Holly K. HARRIS, Auteur ; Amy N. ESLER, Auteur ; Richard E. FRYE, Auteur ; Patricia A. EVANS, Auteur ; Mary Ann MORRIS, Auteur ; Barbara HAAS-GIVLER, Auteur ; Andrea L. GROPMAN, Auteur ; Ryan S. UY, Auteur ; Carie M. BUCHANAN, Auteur ; Jean A. FRAZIER, Auteur ; Stephanie M. MORRIS, Auteur ; FORWARD CONSORTIUM, Auteur . - p.725-737. in Journal of Autism and Developmental Disorders > 54-2 (February 2024) . - p.725-737 Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is characterized by variable neurobehavioral abnormalities, which leads to difficulties in developing and evaluating treatments and in determining accurate prognosis. We employed a pediatric cross-sectional sample (1,072 males, 338 females) from FORWARD, a clinic-based natural history study, to identify behavioral subtypes by latent class analysis. Input included co-occurring behavioral conditions, sleep and sensory problems, autistic behavior scales (SCQ, SRS-2), and the Aberrant Behavior Checklist revised for FXS (ABCFX). A 5-class solution yielded the most clinically meaningful, pharmacotherapy independent behavioral groups with distinctive SCQ, SRS-2, and ABCFX profiles, and adequate non-overlap (? 71%): ?Mild? (31%), ?Moderate without Social Impairment? (32%), ?Moderate with Social Impairment? (7%), ?Moderate with Disruptive Behavior? (20%), and ?Severe? (9%). Our findings support FXS subtyping, for improving clinical management and therapeutic development. En ligne : https://doi.org/10.1007/s10803-022-05821-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=520

Psychometric Study of the Aberrant Behavior Checklist in Fragile X Syndrome and Implications for Targeted Treatment / Stephanie M. SANSONE in Journal of Autism and Developmental Disorders, 42-7 (July 2012)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 42-7 (July 2012) . - p.1377-1392 Titre : Psychometric Study of the Aberrant Behavior Checklist in Fragile X Syndrome and Implications for Targeted Treatment Type de document : texte imprimé Auteurs : Stephanie M. SANSONE, Auteur ; Keith F. WIDAMAN, Auteur ; Scott S. HALL, Auteur ; Allan L. REISS, Auteur ; Amy A. LIGHTBODY, Auteur ; Walter E. KAUFMANN, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Ave M. LACHIEWICZ, Auteur ; Elaine C. BROWN, Auteur ; David HESSL, Auteur Année de publication : 2012 Article en page(s) : p.1377-1392 Langues : Anglais (eng) Mots-clés : FMR1 gene  Fragile X syndrome  Autism  Factor analysis  Rating scale  Social avoidance  Aberrant Behavior Checklist Index. décimale : PER Périodiques Résumé : Animal studies elucidating the neurobiology of fragile X syndrome (FXS) have led to multiple controlled trials in humans, with the Aberrant Behavior Checklist-Community (ABC-C) commonly adopted as a primary outcome measure. A multi-site collaboration examined the psychometric properties of the ABC-C in 630 individuals (ages 3–25) with FXS using exploratory and confirmatory factor analysis. Results support a six-factor structure, with one factor unchanged (Inappropriate Speech), four modified (Irritability, Hyperactivity, Lethargy/Withdrawal, and Stereotypy), and a new Social Avoidance factor. A comparison with ABC-C data from individuals with general intellectual disability and a list of commonly endorsed items are also reported. Reformulated ABC-C scores based on this FXS-specific factor structure may provide added outcome measure specificity and sensitivity in FXS clinical trials. En ligne : http://dx.doi.org/10.1007/s10803-011-1370-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=166 [article] Psychometric Study of the Aberrant Behavior Checklist in Fragile X Syndrome and Implications for Targeted Treatment [texte imprimé] / Stephanie M. SANSONE, Auteur ; Keith F. WIDAMAN, Auteur ; Scott S. HALL, Auteur ; Allan L. REISS, Auteur ; Amy A. LIGHTBODY, Auteur ; Walter E. KAUFMANN, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Ave M. LACHIEWICZ, Auteur ; Elaine C. BROWN, Auteur ; David HESSL, Auteur . - 2012 . - p.1377-1392. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 42-7 (July 2012) . - p.1377-1392 Mots-clés : FMR1 gene  Fragile X syndrome  Autism  Factor analysis  Rating scale  Social avoidance  Aberrant Behavior Checklist Index. décimale : PER Périodiques Résumé : Animal studies elucidating the neurobiology of fragile X syndrome (FXS) have led to multiple controlled trials in humans, with the Aberrant Behavior Checklist-Community (ABC-C) commonly adopted as a primary outcome measure. A multi-site collaboration examined the psychometric properties of the ABC-C in 630 individuals (ages 3–25) with FXS using exploratory and confirmatory factor analysis. Results support a six-factor structure, with one factor unchanged (Inappropriate Speech), four modified (Irritability, Hyperactivity, Lethargy/Withdrawal, and Stereotypy), and a new Social Avoidance factor. A comparison with ABC-C data from individuals with general intellectual disability and a list of commonly endorsed items are also reported. Reformulated ABC-C scores based on this FXS-specific factor structure may provide added outcome measure specificity and sensitivity in FXS clinical trials. En ligne : http://dx.doi.org/10.1007/s10803-011-1370-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=166

Repetitive and self-injurious behaviors: associations with caudate volume in autism and fragile X syndrome / Jason J. WOLFF in Journal of Neurodevelopmental Disorders, 5-1 (December 2013)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 5-1 (December 2013) . - p.12 Titre : Repetitive and self-injurious behaviors: associations with caudate volume in autism and fragile X syndrome Type de document : texte imprimé Auteurs : Jason J. WOLFF, Auteur ; Heather C. HAZLETT, Auteur ; Amy A. LIGHTBODY, Auteur ; Allan L. REISS, Auteur ; Joseph PIVEN, Auteur Article en page(s) : p.12 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : BACKGROUND: Following from previous work suggesting that neurobehavioral features distinguish fragile X and idiopathic variants of autism, we investigated the relationships between four forms of repetitive behavior (stereotypy, self-injury, compulsivity, ritual behavior) and caudate nuclei volume in two groups: boys with fragile X syndrome, a subset of whom met criteria for autism, and a comparison group of boys with idiopathic autism. METHODS: Bilateral caudate nuclei volumes were measured in boys aged 3 to 6 years with fragile X syndrome (n = 41), the subset of boys with fragile X syndrome and autism (n = 16), and boys with idiopathic autism (n = 30). Repetitive behaviors were measured using the Repetitive Behavior Scales-Revised. RESULTS: For boys with idiopathic autism, left caudate volume was modestly associated with self-injury, while both compulsive and ritual behaviors showed significant positive correlations with bilateral caudate nuclei volumes, replicating previous results. For boys with fragile X syndrome, there was no such association between caudate volume and compulsive behaviors. However, we did identify significant positive correlations between self-injury total scores and number of self-injury topographies with bilateral caudate nuclei volumes. CONCLUSIONS: These findings suggest a specific role for the caudate nucleus in the early pathogenesis of self-injurious behavior associated with both idiopathic autism and fragile X syndrome. Results further indicate that the caudate may be differentially associated with compulsive behavior, highlighting the utility of isolating discrete brain-behavior associations within and between subtypes of autism spectrum disorder. En ligne : http://dx.doi.org/10.1186/1866-1955-5-12 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=345 [article] Repetitive and self-injurious behaviors: associations with caudate volume in autism and fragile X syndrome [texte imprimé] / Jason J. WOLFF, Auteur ; Heather C. HAZLETT, Auteur ; Amy A. LIGHTBODY, Auteur ; Allan L. REISS, Auteur ; Joseph PIVEN, Auteur . - p.12. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 5-1 (December 2013) . - p.12 Index. décimale : PER Périodiques Résumé : BACKGROUND: Following from previous work suggesting that neurobehavioral features distinguish fragile X and idiopathic variants of autism, we investigated the relationships between four forms of repetitive behavior (stereotypy, self-injury, compulsivity, ritual behavior) and caudate nuclei volume in two groups: boys with fragile X syndrome, a subset of whom met criteria for autism, and a comparison group of boys with idiopathic autism. METHODS: Bilateral caudate nuclei volumes were measured in boys aged 3 to 6 years with fragile X syndrome (n = 41), the subset of boys with fragile X syndrome and autism (n = 16), and boys with idiopathic autism (n = 30). Repetitive behaviors were measured using the Repetitive Behavior Scales-Revised. RESULTS: For boys with idiopathic autism, left caudate volume was modestly associated with self-injury, while both compulsive and ritual behaviors showed significant positive correlations with bilateral caudate nuclei volumes, replicating previous results. For boys with fragile X syndrome, there was no such association between caudate volume and compulsive behaviors. However, we did identify significant positive correlations between self-injury total scores and number of self-injury topographies with bilateral caudate nuclei volumes. CONCLUSIONS: These findings suggest a specific role for the caudate nucleus in the early pathogenesis of self-injurious behavior associated with both idiopathic autism and fragile X syndrome. Results further indicate that the caudate may be differentially associated with compulsive behavior, highlighting the utility of isolating discrete brain-behavior associations within and between subtypes of autism spectrum disorder. En ligne : http://dx.doi.org/10.1186/1866-1955-5-12 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=345

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)  

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A solution to limitations of cognitive testing in children with intellectual disabilities: the case of fragile X syndrome / David HESSL in Journal of Neurodevelopmental Disorders, 1-1 (March 2009)  

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Teasing apart the heterogeneity of autism: Same behavior, different brains in toddlers with fragile X syndrome and autism / Heather C. HAZLETT in Journal of Neurodevelopmental Disorders, 1-1 (March 2009)  

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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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The Relationship Between Autistic Symptomatology and Independent Living Skills in Adolescents and Young Adults with Fragile X Syndrome / Kristin M. HUSTYI in Journal of Autism and Developmental Disorders, 45-6 (June 2015)  

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