Anxiety-like behavior in Rett syndrome: characteristics and assessment by anxiety scales / Katherine V. BARNES in Journal of Neurodevelopmental Disorders, 7-1 (December 2015)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.30 Titre : Anxiety-like behavior in Rett syndrome: characteristics and assessment by anxiety scales Type de document : texte imprimé Auteurs : Katherine V. BARNES, Auteur ; Francesca R. COUGHLIN, Auteur ; H.M. O'LEARY, Auteur ; Natalie BRUCK, Auteur ; Grace A. BAZIN, Auteur ; Emily B. BEINECKE, Auteur ; A.C. WALCO, Auteur ; Nicole G. CANTWELL, Auteur ; Walter E. KAUFMANN, Auteur Article en page(s) : p.30 Langues : Anglais (eng) Mots-clés : Anxiety  Intellectual disabilities  Problematic behavior  Rett syndrome  Social avoidance Index. décimale : PER Périodiques Résumé : BACKGROUND: Rett syndrome (RTT) is a severe neurodevelopmental disorder characterized by regression of language and motor skills, cognitive impairment, and frequent seizures. Although the diagnostic criteria focus on communication, motor impairments, and hand stereotypies, behavioral abnormalities are a prevalent and disabling component of the RTT phenotype. Among these problematic behaviors, anxiety is a prominent symptom. While the introduction of the Rett Syndrome Behavioral Questionnaire (RSBQ) represented a major advancement in the field, no systematic characterization of anxious behavior using the RSBQ or other standardized measures has been reported. METHODS: This study examined the profiles of anxious behavior in a sample of 74 girls with RTT, with a focus on identifying the instrument with the best psychometric properties in this population. The parent-rated RSBQ, Anxiety, Depression, and Mood Scale (ADAMS), and Aberrant Behavior Checklist-Community (ABC-C), two instruments previously employed in children with neurodevelopmental disorders, were analyzed in terms of score profiles, relationship with age and clinical severity, reliability, concurrent validity, and functional implications. The latter were determined by regression analyses with the Vineland Adaptive Behavior Scales-Second Edition (Vineland-II) and the Child Health Questionnaire (CHQ), a quality of life measure validated in RTT. RESULTS: We found that scores on anxiety subscales were intermediate in range with respect to other behavioral constructs measured by the RSBQ, ADAMS, and ABC-C. Age did not affect scores, and severity of general anxiety was inversely correlated with clinical severity. We demonstrated that the internal consistency of the anxiety-related subscales were among the highest. Test-retest and intra-rater reliability was superior for the ADAMS subscales. Convergent and discriminant validity were measured by inter-scale correlations, which showed the best profile for the social anxiety subscales. Of these, only the ADAMS Social Avoidance showed correlation with quality of life. CONCLUSIONS: We conclude that anxiety-like behavior is a prominent component of RTT's behavioral phenotype, which affects predominantly children with less severe neurologic impairment and has functional consequences. Based on available data on standardized instruments, the ADAMS and in particular its Social Avoidance subscale has the best psychometric properties and functional correlates that make it suitable for clinical and research applications. En ligne : http://dx.doi.org/10.1186/s11689-015-9127-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348 [article] Anxiety-like behavior in Rett syndrome: characteristics and assessment by anxiety scales [texte imprimé] / Katherine V. BARNES, Auteur ; Francesca R. COUGHLIN, Auteur ; H.M. O'LEARY, Auteur ; Natalie BRUCK, Auteur ; Grace A. BAZIN, Auteur ; Emily B. BEINECKE, Auteur ; A.C. WALCO, Auteur ; Nicole G. CANTWELL, Auteur ; Walter E. KAUFMANN, Auteur . - p.30. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 7-1 (December 2015) . - p.30 Mots-clés : Anxiety  Intellectual disabilities  Problematic behavior  Rett syndrome  Social avoidance Index. décimale : PER Périodiques Résumé : BACKGROUND: Rett syndrome (RTT) is a severe neurodevelopmental disorder characterized by regression of language and motor skills, cognitive impairment, and frequent seizures. Although the diagnostic criteria focus on communication, motor impairments, and hand stereotypies, behavioral abnormalities are a prevalent and disabling component of the RTT phenotype. Among these problematic behaviors, anxiety is a prominent symptom. While the introduction of the Rett Syndrome Behavioral Questionnaire (RSBQ) represented a major advancement in the field, no systematic characterization of anxious behavior using the RSBQ or other standardized measures has been reported. METHODS: This study examined the profiles of anxious behavior in a sample of 74 girls with RTT, with a focus on identifying the instrument with the best psychometric properties in this population. The parent-rated RSBQ, Anxiety, Depression, and Mood Scale (ADAMS), and Aberrant Behavior Checklist-Community (ABC-C), two instruments previously employed in children with neurodevelopmental disorders, were analyzed in terms of score profiles, relationship with age and clinical severity, reliability, concurrent validity, and functional implications. The latter were determined by regression analyses with the Vineland Adaptive Behavior Scales-Second Edition (Vineland-II) and the Child Health Questionnaire (CHQ), a quality of life measure validated in RTT. RESULTS: We found that scores on anxiety subscales were intermediate in range with respect to other behavioral constructs measured by the RSBQ, ADAMS, and ABC-C. Age did not affect scores, and severity of general anxiety was inversely correlated with clinical severity. We demonstrated that the internal consistency of the anxiety-related subscales were among the highest. Test-retest and intra-rater reliability was superior for the ADAMS subscales. Convergent and discriminant validity were measured by inter-scale correlations, which showed the best profile for the social anxiety subscales. Of these, only the ADAMS Social Avoidance showed correlation with quality of life. CONCLUSIONS: We conclude that anxiety-like behavior is a prominent component of RTT's behavioral phenotype, which affects predominantly children with less severe neurologic impairment and has functional consequences. Based on available data on standardized instruments, the ADAMS and in particular its Social Avoidance subscale has the best psychometric properties and functional correlates that make it suitable for clinical and research applications. En ligne : http://dx.doi.org/10.1186/s11689-015-9127-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=348

Arbaclofen in fragile X syndrome: results of phase 3 trials / Elizabeth BERRY-KRAVIS in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.3 Titre : Arbaclofen in fragile X syndrome: results of phase 3 trials Type de document : texte imprimé Auteurs : Elizabeth BERRY-KRAVIS, Auteur ; Randi J. HAGERMAN, Auteur ; J. VISOOTSAK, Auteur ; Dejan B. BUDIMIROVIC, Auteur ; Walter E. KAUFMANN, Auteur ; Maryann CHERUBINI, Auteur ; P. ZAREVICS, Auteur ; Karen WALTON-BOWEN, Auteur ; Ping WANG, Auteur ; Mark F. BEAR, Auteur ; Randall L. CARPENTER, Auteur Article en page(s) : p.3 Langues : Anglais (eng) Mots-clés : Arbaclofen  Fmr1  Fragile X syndrome  GABA agonist  Neurodevelopmental disorder  Targeted treatment Index. décimale : PER Périodiques Résumé : BACKGROUND: Arbaclofen improved multiple abnormal phenotypes in animal models of fragile X syndrome (FXS) and showed promising results in a phase 2 clinical study. The objective of the study is to determine safety and efficacy of arbaclofen for social avoidance in FXS. METHODS: Two phase 3 placebo-controlled trials were conducted, a flexible dose trial in subjects age 12-50 (209FX301, adolescent/adult study) and a fixed dose trial in subjects age 5-11 (209FX302, child study). The primary endpoint for both trials was the Social Avoidance subscale of the Aberrant Behavior Checklist-Community Edition, FXS-specific (ABC-CFX). Secondary outcomes included other ABC-CFX subscale scores, Clinical Global Impression-Improvement (CGI-I), Clinical Global Impression-Severity (CGI-S), and Vineland Adaptive Behavior Scales, Second Edition (Vineland-II) Socialization domain score. RESULTS: A total 119 of 125 randomized subjects completed the adolescent/adult study (n = 57 arbaclofen, 62 placebo) and 159/172 completed the child study (arbaclofen 5 BID n = 38; 10 BID n = 39; 10 TID n = 38; placebo n = 44). There were no serious adverse events (AEs); the most common AEs included somatic (headache, vomiting, nausea), neurobehavioral (irritability/agitation, anxiety, hyperactivity), decreased appetite, and infectious conditions, many of which were also common on placebo. In the combined studies, there were 13 discontinuations (n = 12 arbaclofen, 1 placebo) due to AEs (all neurobehavioral). The adolescent/adult study did not show benefit for arbaclofen over placebo for any measure. In the child study, the highest dose group showed benefit over placebo on the ABC-CFX Irritability subscale (p = 0.03) and Parenting Stress Index (PSI, p = 0.03) and trends toward benefit on the ABC-CFX Social Avoidance and Hyperactivity subscales (both p < 0.1) and CGI-I (p = 0.119). Effect size in the highest dose group was similar to effect sizes for FDA-approved serotonin reuptake inhibitors (SSRIs). CONCLUSIONS: Arbaclofen did not meet the primary outcome of improved social avoidance in FXS in either study. Data from secondary measures in the child study suggests younger patients may derive benefit, but additional studies with a larger cohort on higher doses would be required to confirm this finding. The reported studies illustrate the challenges but represent a significant step forward in translating targeted treatments from preclinical models to clinical trials in humans with FXS. En ligne : http://dx.doi.org/10.1186/s11689-016-9181-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=349 [article] Arbaclofen in fragile X syndrome: results of phase 3 trials [texte imprimé] / Elizabeth BERRY-KRAVIS, Auteur ; Randi J. HAGERMAN, Auteur ; J. VISOOTSAK, Auteur ; Dejan B. BUDIMIROVIC, Auteur ; Walter E. KAUFMANN, Auteur ; Maryann CHERUBINI, Auteur ; P. ZAREVICS, Auteur ; Karen WALTON-BOWEN, Auteur ; Ping WANG, Auteur ; Mark F. BEAR, Auteur ; Randall L. CARPENTER, Auteur . - p.3. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.3 Mots-clés : Arbaclofen  Fmr1  Fragile X syndrome  GABA agonist  Neurodevelopmental disorder  Targeted treatment Index. décimale : PER Périodiques Résumé : BACKGROUND: Arbaclofen improved multiple abnormal phenotypes in animal models of fragile X syndrome (FXS) and showed promising results in a phase 2 clinical study. The objective of the study is to determine safety and efficacy of arbaclofen for social avoidance in FXS. METHODS: Two phase 3 placebo-controlled trials were conducted, a flexible dose trial in subjects age 12-50 (209FX301, adolescent/adult study) and a fixed dose trial in subjects age 5-11 (209FX302, child study). The primary endpoint for both trials was the Social Avoidance subscale of the Aberrant Behavior Checklist-Community Edition, FXS-specific (ABC-CFX). Secondary outcomes included other ABC-CFX subscale scores, Clinical Global Impression-Improvement (CGI-I), Clinical Global Impression-Severity (CGI-S), and Vineland Adaptive Behavior Scales, Second Edition (Vineland-II) Socialization domain score. RESULTS: A total 119 of 125 randomized subjects completed the adolescent/adult study (n = 57 arbaclofen, 62 placebo) and 159/172 completed the child study (arbaclofen 5 BID n = 38; 10 BID n = 39; 10 TID n = 38; placebo n = 44). There were no serious adverse events (AEs); the most common AEs included somatic (headache, vomiting, nausea), neurobehavioral (irritability/agitation, anxiety, hyperactivity), decreased appetite, and infectious conditions, many of which were also common on placebo. In the combined studies, there were 13 discontinuations (n = 12 arbaclofen, 1 placebo) due to AEs (all neurobehavioral). The adolescent/adult study did not show benefit for arbaclofen over placebo for any measure. In the child study, the highest dose group showed benefit over placebo on the ABC-CFX Irritability subscale (p = 0.03) and Parenting Stress Index (PSI, p = 0.03) and trends toward benefit on the ABC-CFX Social Avoidance and Hyperactivity subscales (both p < 0.1) and CGI-I (p = 0.119). Effect size in the highest dose group was similar to effect sizes for FDA-approved serotonin reuptake inhibitors (SSRIs). CONCLUSIONS: Arbaclofen did not meet the primary outcome of improved social avoidance in FXS in either study. Data from secondary measures in the child study suggests younger patients may derive benefit, but additional studies with a larger cohort on higher doses would be required to confirm this finding. The reported studies illustrate the challenges but represent a significant step forward in translating targeted treatments from preclinical models to clinical trials in humans with FXS. En ligne : http://dx.doi.org/10.1186/s11689-016-9181-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=349

Assessment of Caregiver Inventory for Rett Syndrome / Jane B. LANE in Journal of Autism and Developmental Disorders, 47-4 (April 2017)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 47-4 (April 2017) . - p.1102-1112 Titre : Assessment of Caregiver Inventory for Rett Syndrome Type de document : texte imprimé Auteurs : Jane B. LANE, Auteur ; Amber R. SALTER, Auteur ; Nancy JONES, Auteur ; Gary CUTTER, Auteur ; Joseph P. HORRIGAN, Auteur ; Steve A. SKINNER, Auteur ; Walter E. KAUFMANN, Auteur ; Daniel G. GLAZE, Auteur ; Jeffrey L. NEUL, Auteur ; Alan K. PERCY, Auteur Article en page(s) : p.1102-1112 Langues : Anglais (eng) Mots-clés : Rett syndrome  Caregiver  Inventory  MECP2  Factor analysis Index. décimale : PER Périodiques Résumé : Rett syndrome (RTT) requires total caregiver attention and leads to potential difficulties throughout life. The Caregiver Burden Inventory, designed for Alzheimer disease, was modified to a RTT Caregiver Inventory Assessment (RTT CIA). Reliability and face, construct, and concurrent validity were assessed in caregivers of individuals with RTT. Chi square or Fisher’s exact test for categorical variables and t tests or Wilcoxon two-sample tests for continuous variables were utilized. Survey completed by 198 caregivers; 70 caregivers completed follow-up assessment. Exploratory factor analysis revealed good agreement for physical burden, emotional burden, and social burden. Internal reliability was high (Cronbach’s alpha 0.898). RTT CIA represents a reliable and valid measure, providing a needed metric of caregiver burden in this disorder. En ligne : http://dx.doi.org/10.1007/s10803-017-3034-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=304 [article] Assessment of Caregiver Inventory for Rett Syndrome [texte imprimé] / Jane B. LANE, Auteur ; Amber R. SALTER, Auteur ; Nancy JONES, Auteur ; Gary CUTTER, Auteur ; Joseph P. HORRIGAN, Auteur ; Steve A. SKINNER, Auteur ; Walter E. KAUFMANN, Auteur ; Daniel G. GLAZE, Auteur ; Jeffrey L. NEUL, Auteur ; Alan K. PERCY, Auteur . - p.1102-1112. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 47-4 (April 2017) . - p.1102-1112 Mots-clés : Rett syndrome  Caregiver  Inventory  MECP2  Factor analysis Index. décimale : PER Périodiques Résumé : Rett syndrome (RTT) requires total caregiver attention and leads to potential difficulties throughout life. The Caregiver Burden Inventory, designed for Alzheimer disease, was modified to a RTT Caregiver Inventory Assessment (RTT CIA). Reliability and face, construct, and concurrent validity were assessed in caregivers of individuals with RTT. Chi square or Fisher’s exact test for categorical variables and t tests or Wilcoxon two-sample tests for continuous variables were utilized. Survey completed by 198 caregivers; 70 caregivers completed follow-up assessment. Exploratory factor analysis revealed good agreement for physical burden, emotional burden, and social burden. Internal reliability was high (Cronbach’s alpha 0.898). RTT CIA represents a reliable and valid measure, providing a needed metric of caregiver burden in this disorder. En ligne : http://dx.doi.org/10.1007/s10803-017-3034-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=304

Autism in Genetic Intellectual Disability : Insights into Idiopathic Autism / Walter E. KAUFMANN

Public ISBD contenu dans Autism / Andrew W. ZIMMERMAN Titre : Autism in Genetic Intellectual Disability : Insights into Idiopathic Autism Type de document : texte imprimé Auteurs : Walter E. KAUFMANN, Auteur ; George T. CAPONE, Auteur ; Megan CLARKE, Auteur ; Dejan B. BUDIMIROVIC, Auteur Année de publication : 2008 Importance : p.81-108 Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=703 contenu dans Autism / Andrew W. ZIMMERMAN Autism in Genetic Intellectual Disability : Insights into Idiopathic Autism [texte imprimé] / Walter E. KAUFMANN, Auteur ; George T. CAPONE, Auteur ; Megan CLARKE, Auteur ; Dejan B. BUDIMIROVIC, Auteur . - 2008 . - p.81-108. Langues : Anglais (eng) Index. décimale : AUT-B AUT-B - L'Autisme - Ouvrages généraux et scientifiques Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=703

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Autistic behavior in boys with fragile X syndrome: social approach and HPA-axis dysfunction / Jane E. ROBERTS in Journal of Neurodevelopmental Disorders, 1-4 (December 2009)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 1-4 (December 2009) . - p.283-91 Titre : Autistic behavior in boys with fragile X syndrome: social approach and HPA-axis dysfunction Type de document : texte imprimé Auteurs : Jane E. ROBERTS, Auteur ; Megan A. CLARKE, Auteur ; Kaitlyn ALCORN, Auteur ; John C. CARTER, Auteur ; Anna C. LONG, Auteur ; Walter E. KAUFMANN, Auteur Article en page(s) : p.283-91 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The primary goal of this study was to examine environmental and neuroendocrine factors that convey increased risk for elevated autistic behavior in boys with Fragile X syndrome (FXS). This study involves three related analyses: (1) examination of multiple dimensions of social approach behaviors and how they vary over time, (2) investigation of mean levels and modulation of salivary cortisol levels in response to social interaction, and (3) examination of the relationship of social approach and autistic behaviors to salivary cortisol. Poor social approach and elevated baseline and regulation cortisol are discernible traits that distinguish boys with FXS and ASD from boys with FXS only and from typically developing boys. In addition, blunted cortisol change is associated with increased severity of autistic behaviors only within the FXS and ASD group. Boys with FXS and ASD have distinct behavioral and neuroendocrine profiles that differentiate them from those with FXS alone and typically developing boys. En ligne : http://dx.doi.org/10.1007/s11689-009-9028-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342 [article] Autistic behavior in boys with fragile X syndrome: social approach and HPA-axis dysfunction [texte imprimé] / Jane E. ROBERTS, Auteur ; Megan A. CLARKE, Auteur ; Kaitlyn ALCORN, Auteur ; John C. CARTER, Auteur ; Anna C. LONG, Auteur ; Walter E. KAUFMANN, Auteur . - p.283-91. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 1-4 (December 2009) . - p.283-91 Index. décimale : PER Périodiques Résumé : The primary goal of this study was to examine environmental and neuroendocrine factors that convey increased risk for elevated autistic behavior in boys with Fragile X syndrome (FXS). This study involves three related analyses: (1) examination of multiple dimensions of social approach behaviors and how they vary over time, (2) investigation of mean levels and modulation of salivary cortisol levels in response to social interaction, and (3) examination of the relationship of social approach and autistic behaviors to salivary cortisol. Poor social approach and elevated baseline and regulation cortisol are discernible traits that distinguish boys with FXS and ASD from boys with FXS only and from typically developing boys. In addition, blunted cortisol change is associated with increased severity of autistic behaviors only within the FXS and ASD group. Boys with FXS and ASD have distinct behavioral and neuroendocrine profiles that differentiate them from those with FXS alone and typically developing boys. En ligne : http://dx.doi.org/10.1007/s11689-009-9028-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342

Development of a Video-based Evaluation Tool in Rett Syndrome / Sue FYFE in Journal of Autism and Developmental Disorders, 37-9 (October 2007)  

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Developmental delay in Rett syndrome: data from the natural history study / J.L. NEUL in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

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Fragile X targeted pharmacotherapy: lessons learned and future directions / Craig ERICKSON in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

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Improving the Diagnosis of Autism Spectrum Disorder in Fragile X Syndrome by Adapting the Social Communication Questionnaire and the Social Responsiveness Scale-2 / Sharon A. KIDD in Journal of Autism and Developmental Disorders, 50-9 (September 2020)  

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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)  

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Parent Report of Community Psychiatric Comorbid Diagnoses in Autism Spectrum Disorders / Rebecca E. ROSENBERG in Autism Research and Treatment, (June 2011)  

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Pharmacologic Interventions for Irritability, Aggression, Agitation and Self-Injurious Behavior in Fragile X Syndrome: An Initial Cross-Sectional Analysis / Eleanor M. ECKERT in Journal of Autism and Developmental Disorders, 49-11 (November 2019)  

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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)  

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Sensory Symptoms and Signs of Hyperarousal in Individuals with Fragile X Syndrome: Findings from the FORWARD Registry and Database Multisite Study / Ave M. LACHIEWICZ in Journal of Autism and Developmental Disorders, 54-11 (November)  

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Social Approach and Autistic Behavior in Children with Fragile X Syndrome / Jane E. ROBERTS in Journal of Autism and Developmental Disorders, 37-9 (October 2007)  

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