Effects of X Chromosome Monosomy and Genomic Imprinting on Observational Markers of Social Anxiety in Prepubertal Girls with Turner Syndrome / S. S. HALL in Journal of Autism and Developmental Disorders, 52-1 (January 2022)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 52-1 (January 2022) . - p.16-27 Titre : Effects of X Chromosome Monosomy and Genomic Imprinting on Observational Markers of Social Anxiety in Prepubertal Girls with Turner Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : S. S. HALL, Auteur ; M. J. RILEY, Auteur ; R. N. WESTON, Auteur ; J. F. LEPAGE, Auteur ; D. S. HONG, Auteur ; B. JO, Auteur ; J. HALLMAYER, Auteur ; A. L. REISS, Auteur Article en page(s) : p.16-27 Langues : Anglais (eng) Mots-clés : Anxiety  Autism Spectrum Disorder  Female  Genomic Imprinting  Humans  Monosomy  Turner Syndrome/genetics  X Chromosome  Behavioral observations  Gaze avoidance  Turner syndrome Index. décimale : PER Périodiques Résumé : Previous studies have suggested that girls with Turner syndrome (TS) exhibit symptoms of social anxiety during interactions with others. However, few studies have quantified these behaviors during naturalistic face-to-face social encounters. In this study, we coded observational markers of social anxiety in prepubertal girls with TS and age-matched controls during a 10-min social encounter with an unfamiliar examiner. Results showed that girls with TS exhibited significantly higher levels of gaze avoidance compared to controls. Impairments in social gaze were particularly increased in girls with a maternally retained X chromosome (Xm), suggesting a genomic imprinting effect. These data indicate that social gaze avoidance may be a critical behavioral marker for identifying early social dysfunction in young girls with TS. En ligne : http://dx.doi.org/10.1007/s10803-021-04896-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=454 [article] Effects of X Chromosome Monosomy and Genomic Imprinting on Observational Markers of Social Anxiety in Prepubertal Girls with Turner Syndrome [Texte imprimé et/ou numérique] / S. S. HALL, Auteur ; M. J. RILEY, Auteur ; R. N. WESTON, Auteur ; J. F. LEPAGE, Auteur ; D. S. HONG, Auteur ; B. JO, Auteur ; J. HALLMAYER, Auteur ; A. L. REISS, Auteur . - p.16-27. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 52-1 (January 2022) . - p.16-27 Mots-clés : Anxiety  Autism Spectrum Disorder  Female  Genomic Imprinting  Humans  Monosomy  Turner Syndrome/genetics  X Chromosome  Behavioral observations  Gaze avoidance  Turner syndrome Index. décimale : PER Périodiques Résumé : Previous studies have suggested that girls with Turner syndrome (TS) exhibit symptoms of social anxiety during interactions with others. However, few studies have quantified these behaviors during naturalistic face-to-face social encounters. In this study, we coded observational markers of social anxiety in prepubertal girls with TS and age-matched controls during a 10-min social encounter with an unfamiliar examiner. Results showed that girls with TS exhibited significantly higher levels of gaze avoidance compared to controls. Impairments in social gaze were particularly increased in girls with a maternally retained X chromosome (Xm), suggesting a genomic imprinting effect. These data indicate that social gaze avoidance may be a critical behavioral marker for identifying early social dysfunction in young girls with TS. En ligne : http://dx.doi.org/10.1007/s10803-021-04896-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=454

Improving social gaze behavior in fragile X syndrome using a behavioral skills training approach: a proof of concept study / C. E. GANNON in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 25 p. Titre : Improving social gaze behavior in fragile X syndrome using a behavioral skills training approach: a proof of concept study Type de document : Texte imprimé et/ou numérique Auteurs : C. E. GANNON, Auteur ; T. C. BRITTON, Auteur ; E. H. WILKINSON, Auteur ; S. S. HALL, Auteur Année de publication : 2018 Article en page(s) : 25 p. Langues : Anglais (eng) Mots-clés : Behavioral treatment  Fragile X syndrome  Social gaze behavior Index. décimale : PER Périodiques Résumé : BACKGROUND: Individuals diagnosed with fragile X syndrome (FXS), the most common known inherited form of intellectual disability, commonly exhibit significant impairments in social gaze behavior during interactions with others. Although this behavior can restrict social development and limit educational opportunities, behavioral interventions designed to improve social gaze behavior have not been developed for this population. In this proof of concept (PoC) study, we examined whether administering a behavioral skills training package-discrete trial instruction (DTI) plus relaxation training-could increase social gaze duration in males with FXS. METHODS: As part of a larger clinical trial, 20 boys with FXS, aged 8 to 18 years, were randomized to receive DTI plus relaxation training administered at one of two prescribed doses over a 2-day period at our research center. Potential improvements in social gaze behavior were evaluated by direct observations conducted across trials during the training, and generalization effects were examined by administering a social challenge before and after the treatment. During the social challenge, social gaze behavior was recorded using an eye tracker and physiological arousal levels were simultaneously recorded by monitoring the child's heart rate. RESULTS: Levels of social gaze behavior increased significantly across blocks of training trials for six (60%) boys who received the high-dose behavioral treatment and for three (30%) boys who received the low-dose behavioral treatment. Boys who received the high-dose treatment also showed greater improvements in social gaze behavior during the social challenge compared to boys who received the low-dose treatment. There was no effect of the treatment on physiological arousal levels recorded on the heart rate monitor at either dose. CONCLUSIONS: These results suggest that appropriate social gaze behavior can be successfully taught to boys with FXS using a standardized behavioral skills training approach. Future studies will need to evaluate whether younger children with FXS might benefit from this treatment, and/or whether more naturalistic forms of behavioral skills training might be beneficial, before social gaze avoidance becomes established in the child's repertoire. TRIAL REGISTRATION: ClinicalTrials.gov, NCT02616796 . Registered 30 November 2015. En ligne : http://dx.doi.org/10.1186/s11689-018-9243-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] Improving social gaze behavior in fragile X syndrome using a behavioral skills training approach: a proof of concept study [Texte imprimé et/ou numérique] / C. E. GANNON, Auteur ; T. C. BRITTON, Auteur ; E. H. WILKINSON, Auteur ; S. S. HALL, Auteur . - 2018 . - 25 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 10-1 (December 2018) . - 25 p. Mots-clés : Behavioral treatment  Fragile X syndrome  Social gaze behavior Index. décimale : PER Périodiques Résumé : BACKGROUND: Individuals diagnosed with fragile X syndrome (FXS), the most common known inherited form of intellectual disability, commonly exhibit significant impairments in social gaze behavior during interactions with others. Although this behavior can restrict social development and limit educational opportunities, behavioral interventions designed to improve social gaze behavior have not been developed for this population. In this proof of concept (PoC) study, we examined whether administering a behavioral skills training package-discrete trial instruction (DTI) plus relaxation training-could increase social gaze duration in males with FXS. METHODS: As part of a larger clinical trial, 20 boys with FXS, aged 8 to 18 years, were randomized to receive DTI plus relaxation training administered at one of two prescribed doses over a 2-day period at our research center. Potential improvements in social gaze behavior were evaluated by direct observations conducted across trials during the training, and generalization effects were examined by administering a social challenge before and after the treatment. During the social challenge, social gaze behavior was recorded using an eye tracker and physiological arousal levels were simultaneously recorded by monitoring the child's heart rate. RESULTS: Levels of social gaze behavior increased significantly across blocks of training trials for six (60%) boys who received the high-dose behavioral treatment and for three (30%) boys who received the low-dose behavioral treatment. Boys who received the high-dose treatment also showed greater improvements in social gaze behavior during the social challenge compared to boys who received the low-dose treatment. There was no effect of the treatment on physiological arousal levels recorded on the heart rate monitor at either dose. CONCLUSIONS: These results suggest that appropriate social gaze behavior can be successfully taught to boys with FXS using a standardized behavioral skills training approach. Future studies will need to evaluate whether younger children with FXS might benefit from this treatment, and/or whether more naturalistic forms of behavioral skills training might be beneficial, before social gaze avoidance becomes established in the child's repertoire. TRIAL REGISTRATION: ClinicalTrials.gov, NCT02616796 . Registered 30 November 2015. En ligne : http://dx.doi.org/10.1186/s11689-018-9243-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

Telehealth Delivery of Function-Based Behavioral Treatment for Problem Behaviors Exhibited by Boys with Fragile X Syndrome / K. D. MONLUX in Journal of Autism and Developmental Disorders, 49-6 (June 2019)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 49-6 (June 2019) . - p.2461-2475 Titre : Telehealth Delivery of Function-Based Behavioral Treatment for Problem Behaviors Exhibited by Boys with Fragile X Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : K. D. MONLUX, Auteur ; J. S. POLLARD, Auteur ; A. Y. BUJANDA RODRIGUEZ, Auteur ; S. S. HALL, Auteur Article en page(s) : p.2461-2475 Langues : Anglais (eng) Mots-clés : Behavioral treatment  Fragile X syndrome  Functional analysis  Problem behavior  Telehealth Index. décimale : PER Périodiques Résumé : Telehealth is increasingly being employed to extend the reach of behavior analytic interventions to families of children with developmental disorders who exhibit problem behaviors. In this preliminary study, we examined whether function-based behavior analytic interventions could be delivered via telehealth over 12 weeks to decrease problem behaviors exhibited by ten boys with fragile X syndrome (FXS), aged 3- to 10-years. Results showed that for eight children who completed treatment, rates of problem behavior decreased from baseline by 78.8-95.3%. Parent procedural integrity and acceptability ratings remained high throughout the treatment. These data indicate that implementing function-based behavioral treatment via telehealth can be a feasible, acceptable and potentially cost-effective approach for decreasing problem behaviors exhibited by boys with FXS. En ligne : https://dx.doi.org/10.1007/s10803-019-03963-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=400 [article] Telehealth Delivery of Function-Based Behavioral Treatment for Problem Behaviors Exhibited by Boys with Fragile X Syndrome [Texte imprimé et/ou numérique] / K. D. MONLUX, Auteur ; J. S. POLLARD, Auteur ; A. Y. BUJANDA RODRIGUEZ, Auteur ; S. S. HALL, Auteur . - p.2461-2475. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 49-6 (June 2019) . - p.2461-2475 Mots-clés : Behavioral treatment  Fragile X syndrome  Functional analysis  Problem behavior  Telehealth Index. décimale : PER Périodiques Résumé : Telehealth is increasingly being employed to extend the reach of behavior analytic interventions to families of children with developmental disorders who exhibit problem behaviors. In this preliminary study, we examined whether function-based behavior analytic interventions could be delivered via telehealth over 12 weeks to decrease problem behaviors exhibited by ten boys with fragile X syndrome (FXS), aged 3- to 10-years. Results showed that for eight children who completed treatment, rates of problem behavior decreased from baseline by 78.8-95.3%. Parent procedural integrity and acceptability ratings remained high throughout the treatment. These data indicate that implementing function-based behavioral treatment via telehealth can be a feasible, acceptable and potentially cost-effective approach for decreasing problem behaviors exhibited by boys with FXS. En ligne : https://dx.doi.org/10.1007/s10803-019-03963-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=400

The neural basis of auditory temporal discrimination in girls with fragile X syndrome / S. S. HALL in Journal of Neurodevelopmental Disorders, 1-1 (March 2009)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 1-1 (March 2009) . - p.91-9 Titre : The neural basis of auditory temporal discrimination in girls with fragile X syndrome Type de document : Texte imprimé et/ou numérique Auteurs : S. S. HALL, Auteur ; E. WALTER, Auteur ; E. SHERMAN, Auteur ; F. HOEFT, Auteur ; A. L. REISS, Auteur Article en page(s) : p.91-9 Langues : Anglais (eng) Mots-clés : Discrimination  Fragile X syndrome  Temporal processing  fMRI Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is a common genetic disorder in which temporal processing may be impaired. To our knowledge however, no studies have examined the neural basis of temporal discrimination in individuals with FXS using functional magnetic resonance imaging (fMRI). Ten girls with fragile X syndrome and ten developmental age-matched typically developing controls performed an auditory temporal discrimination task in a 3T scanner. Girls with FXS showed significantly greater brain activation in a left-lateralized network, comprising left medial frontal gyrus, left superior and middle temporal gyrus, left cerebellum, and left brainstem (pons), when compared to a developmental age-matched typically developing group of subjects who had similar in-scanner task performance. There were no regions that showed significantly greater brain activation in the control group compared to individuals with FXS. These data indicate that networks of brain regions involved in auditory temporal processing may be dysfunctional in FXS. In particular, it is possible that girls with FXS employ left hemispheric resources to overcompensate for relative right hemispheric dysfunction. En ligne : http://dx.doi.org/10.1007/s11689-009-9007-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=341 [article] The neural basis of auditory temporal discrimination in girls with fragile X syndrome [Texte imprimé et/ou numérique] / S. S. HALL, Auteur ; E. WALTER, Auteur ; E. SHERMAN, Auteur ; F. HOEFT, Auteur ; A. L. REISS, Auteur . - p.91-9. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 1-1 (March 2009) . - p.91-9 Mots-clés : Discrimination  Fragile X syndrome  Temporal processing  fMRI Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is a common genetic disorder in which temporal processing may be impaired. To our knowledge however, no studies have examined the neural basis of temporal discrimination in individuals with FXS using functional magnetic resonance imaging (fMRI). Ten girls with fragile X syndrome and ten developmental age-matched typically developing controls performed an auditory temporal discrimination task in a 3T scanner. Girls with FXS showed significantly greater brain activation in a left-lateralized network, comprising left medial frontal gyrus, left superior and middle temporal gyrus, left cerebellum, and left brainstem (pons), when compared to a developmental age-matched typically developing group of subjects who had similar in-scanner task performance. There were no regions that showed significantly greater brain activation in the control group compared to individuals with FXS. These data indicate that networks of brain regions involved in auditory temporal processing may be dysfunctional in FXS. In particular, it is possible that girls with FXS employ left hemispheric resources to overcompensate for relative right hemispheric dysfunction. En ligne : http://dx.doi.org/10.1007/s11689-009-9007-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=341

Updated report on tools to measure outcomes of clinical trials in fragile X syndrome / Dejan B. BUDIMIROVIC in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.14 Titre : Updated report on tools to measure outcomes of clinical trials in fragile X syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Dejan B. BUDIMIROVIC, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; C. A. ERICKSON, Auteur ; S. S. HALL, Auteur ; D. HESSL, Auteur ; A. L. REISS, Auteur ; M. K. KING, Auteur ; Leonard ABBEDUTO, Auteur ; W. E. KAUFMANN, Auteur Article en page(s) : p.14 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Clinical trials  Fragile X syndrome  Intellectual disability  Outcome measures Index. décimale : PER Périodiques Résumé : OBJECTIVE: Fragile X syndrome (FXS) has been the neurodevelopmental disorder with the most active translation of preclinical breakthroughs into clinical trials. This process has led to a critical assessment of outcome measures, which resulted in a comprehensive review published in 2013. Nevertheless, the disappointing outcome of several recent phase III drug trials in FXS, and parallel efforts at evaluating behavioral endpoints for trials in autism spectrum disorder (ASD), has emphasized the need for re-assessing outcome measures and revising recommendations for FXS. METHODS: After performing an extensive database search (PubMed, Food and Drug Administration (FDA)/National Institutes of Health (NIH)'s www.ClinicalTrials.gov, etc.) to determine progress since 2013, members of the Working Groups who published the 2013 Report evaluated the available outcome measures for FXS and related neurodevelopmental disorders using the COSMIN grading system of levels of evidence. The latter has also been applied to a British survey of endpoints for ASD. In addition, we also generated an informal classification of outcome measures for use in FXS intervention studies as instruments appropriate to detect shorter- or longer-term changes. RESULTS: To date, a total of 22 double-blind controlled clinical trials in FXS have been identified through www.ClinicalTrials.gov and an extensive literature search. The vast majority of these FDA/NIH-registered clinical trials has been completed between 2008 and 2015 and has targeted the core excitatory/inhibitory imbalance present in FXS and other neurodevelopmental disorders. Limited data exist on reliability and validity for most tools used to measure cognitive, behavioral, and other problems in FXS in these trials and other studies. Overall, evidence for most tools supports a moderate tool quality grading. Data on sensitivity to treatment, currently under evaluation, could improve ratings for some cognitive and behavioral tools. Some progress has also been made at identifying promising biomarkers, mainly on blood-based and neurophysiological measures. CONCLUSION: Despite the tangible progress in implementing clinical trials in FXS, the increasing data on measurement properties of endpoints, and the ongoing process of new tool development, the vast majority of outcome measures are at the moderate quality level with limited information on reliability, validity, and sensitivity to treatment. This situation is not unique to FXS, since reviews of endpoints for ASD have arrived at similar conclusions. These findings, in conjunction with the predominance of parent-based measures particularly in the behavioral domain, indicate that endpoint development in FXS needs to continue with an emphasis on more objective measures (observational, direct testing, biomarkers) that reflect meaningful improvements in quality of life. A major continuous challenge is the development of measurement tools concurrently with testing drug safety and efficacy in clinical trials. En ligne : http://dx.doi.org/10.1186/s11689-017-9193-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350 [article] Updated report on tools to measure outcomes of clinical trials in fragile X syndrome [Texte imprimé et/ou numérique] / Dejan B. BUDIMIROVIC, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; C. A. ERICKSON, Auteur ; S. S. HALL, Auteur ; D. HESSL, Auteur ; A. L. REISS, Auteur ; M. K. KING, Auteur ; Leonard ABBEDUTO, Auteur ; W. E. KAUFMANN, Auteur . - p.14. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 9-1 (December 2017) . - p.14 Mots-clés : Autism spectrum disorder  Clinical trials  Fragile X syndrome  Intellectual disability  Outcome measures Index. décimale : PER Périodiques Résumé : OBJECTIVE: Fragile X syndrome (FXS) has been the neurodevelopmental disorder with the most active translation of preclinical breakthroughs into clinical trials. This process has led to a critical assessment of outcome measures, which resulted in a comprehensive review published in 2013. Nevertheless, the disappointing outcome of several recent phase III drug trials in FXS, and parallel efforts at evaluating behavioral endpoints for trials in autism spectrum disorder (ASD), has emphasized the need for re-assessing outcome measures and revising recommendations for FXS. METHODS: After performing an extensive database search (PubMed, Food and Drug Administration (FDA)/National Institutes of Health (NIH)'s www.ClinicalTrials.gov, etc.) to determine progress since 2013, members of the Working Groups who published the 2013 Report evaluated the available outcome measures for FXS and related neurodevelopmental disorders using the COSMIN grading system of levels of evidence. The latter has also been applied to a British survey of endpoints for ASD. In addition, we also generated an informal classification of outcome measures for use in FXS intervention studies as instruments appropriate to detect shorter- or longer-term changes. RESULTS: To date, a total of 22 double-blind controlled clinical trials in FXS have been identified through www.ClinicalTrials.gov and an extensive literature search. The vast majority of these FDA/NIH-registered clinical trials has been completed between 2008 and 2015 and has targeted the core excitatory/inhibitory imbalance present in FXS and other neurodevelopmental disorders. Limited data exist on reliability and validity for most tools used to measure cognitive, behavioral, and other problems in FXS in these trials and other studies. Overall, evidence for most tools supports a moderate tool quality grading. Data on sensitivity to treatment, currently under evaluation, could improve ratings for some cognitive and behavioral tools. Some progress has also been made at identifying promising biomarkers, mainly on blood-based and neurophysiological measures. CONCLUSION: Despite the tangible progress in implementing clinical trials in FXS, the increasing data on measurement properties of endpoints, and the ongoing process of new tool development, the vast majority of outcome measures are at the moderate quality level with limited information on reliability, validity, and sensitivity to treatment. This situation is not unique to FXS, since reviews of endpoints for ASD have arrived at similar conclusions. These findings, in conjunction with the predominance of parent-based measures particularly in the behavioral domain, indicate that endpoint development in FXS needs to continue with an emphasis on more objective measures (observational, direct testing, biomarkers) that reflect meaningful improvements in quality of life. A major continuous challenge is the development of measurement tools concurrently with testing drug safety and efficacy in clinical trials. En ligne : http://dx.doi.org/10.1186/s11689-017-9193-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=350

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