Aging in fragile X syndrome / A. UTARI in Journal of Neurodevelopmental Disorders, 2-2 (June 2010)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 2-2 (June 2010) . - p.70-76 Titre : Aging in fragile X syndrome Type de document : Texte imprimé et/ou numérique Auteurs : A. UTARI, Auteur ; E. ADAMS, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Alyssa D. CHAVEZ, Auteur ; F. SCAGGS, Auteur ; L. NGOTRAN, Auteur ; A. BOYD, Auteur ; D. HESSL, Auteur ; L. W. GANE, Auteur ; F. TASSONE, Auteur ; N. TARTAGLIA, Auteur ; M. A. LEEHEY, Auteur ; Randi J. HAGERMAN, Auteur Article en page(s) : p.70-76 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Many studies have focused on the behavior and cognitive problems in young patients with fragile X syndrome (FXS), but there are no studies about the problems in aging for those with FXS. The discovery of the fragile X-associated tremor ataxia syndrome (FXTAS), a neurodegenerative disorder related to elevated FMR1-mRNA, in elderly men and some women with the premutation, intensified the need for aging studies in FXS. Approximately 40% of males with FXS have repeat size mosaicism and as a result, some of these individuals also have elevated levels of FMR1-mRNA which theoretically puts them at risk for FXTAS. Here, we have surveyed all of the aging patients with FXS that we have followed over the years to clarify the medical complications of aging seen in those with FXS. Data was collected from 62 individuals with the FXS full mutation (44 males; 18 females) who were at least 40 years old at their most recent clinical examination. We found that the five most frequent medical problems in these patients were neurological problems (38.7%), gastrointestinal problems (30.6%), obesity (28.8%), hypertension (24.2%) and heart problems (24.2%). Movement disorders were significantly different between males and females (38.6% vs.10.2%, p = 0.029). We did not find any differences in medical problems between those with a full mutation and those with mosaicism. Identification of medical problems associated with aging in FXS is important to establish appropriate recommendations for medical screening and treatment considerations. En ligne : http://dx.doi.org/10.1007/s11689-010-9047-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342 [article] Aging in fragile X syndrome [Texte imprimé et/ou numérique] / A. UTARI, Auteur ; E. ADAMS, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Alyssa D. CHAVEZ, Auteur ; F. SCAGGS, Auteur ; L. NGOTRAN, Auteur ; A. BOYD, Auteur ; D. HESSL, Auteur ; L. W. GANE, Auteur ; F. TASSONE, Auteur ; N. TARTAGLIA, Auteur ; M. A. LEEHEY, Auteur ; Randi J. HAGERMAN, Auteur . - p.70-76. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 2-2 (June 2010) . - p.70-76 Index. décimale : PER Périodiques Résumé : Many studies have focused on the behavior and cognitive problems in young patients with fragile X syndrome (FXS), but there are no studies about the problems in aging for those with FXS. The discovery of the fragile X-associated tremor ataxia syndrome (FXTAS), a neurodegenerative disorder related to elevated FMR1-mRNA, in elderly men and some women with the premutation, intensified the need for aging studies in FXS. Approximately 40% of males with FXS have repeat size mosaicism and as a result, some of these individuals also have elevated levels of FMR1-mRNA which theoretically puts them at risk for FXTAS. Here, we have surveyed all of the aging patients with FXS that we have followed over the years to clarify the medical complications of aging seen in those with FXS. Data was collected from 62 individuals with the FXS full mutation (44 males; 18 females) who were at least 40 years old at their most recent clinical examination. We found that the five most frequent medical problems in these patients were neurological problems (38.7%), gastrointestinal problems (30.6%), obesity (28.8%), hypertension (24.2%) and heart problems (24.2%). Movement disorders were significantly different between males and females (38.6% vs.10.2%, p = 0.029). We did not find any differences in medical problems between those with a full mutation and those with mosaicism. Identification of medical problems associated with aging in FXS is important to establish appropriate recommendations for medical screening and treatment considerations. En ligne : http://dx.doi.org/10.1007/s11689-010-9047-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342

Clinical assessment of DSM-IV anxiety disorders in fragile X syndrome: prevalence and characterization / L. CORDEIRO in Journal of Neurodevelopmental Disorders, 3-1 (March 2011)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 3-1 (March 2011) . - p.57-67 Titre : Clinical assessment of DSM-IV anxiety disorders in fragile X syndrome: prevalence and characterization Type de document : Texte imprimé et/ou numérique Auteurs : L. CORDEIRO, Auteur ; Elizabeth C. BALLINGER, Auteur ; Randi J. HAGERMAN, Auteur ; D. HESSL, Auteur Article en page(s) : p.57-67 Langues : Anglais (eng) Mots-clés : Anxiety  Fragile X syndrome  Intellectual disability  Social phobia  Specific phobia Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID). Anxiety and social withdrawal are considered core features of the FXS phenotype, yet there is limited diagnostic evidence of the prevalence of formal anxiety disorders in FXS. This study assessed the prevalence of anxiety disorders in a sample of 58 males and 39 females with FXS (ages 5.0-33.3 years). Participants' parents completed the Anxiety Disorders Interview Schedule (ADIS-IV), a clinical interview based on DSM-IV criteria, and the Anxiety Depression and Mood Scale (ADAMS), a psychiatric disorders screening instrument normed in ID. We conducted cognitive (IQ) and autism (AUT) assessments and surveyed medication use. Despite a high rate of psychopharmacological treatment, 86.2% of males and 76.9% of females met criteria for an anxiety disorder, with social phobia and specific phobia the most commonly diagnosed. Proband status, gender, and IQ were not significantly related to any anxiety disorders, however significantly higher rates of a few anxiety disorders were found in older age and AUT groups. Significant correlations between ADIS diagnoses and ADAMS scores provided cross-validation of instruments, indicating that the ADIS is suitable for use in FXS. A greater percentage of our sample met criteria for most anxiety disorders than has been reported in other ID groups or the general population. The rate of anxiety compared to general ID suggests that the FMR1 full mutation confers an especially high risk for these disorders, regardless of factors commonly associated with FXS clinical involvement. A thorough clinical assessment and treatment of anxiety should be included in the FXS standard of care. En ligne : http://dx.doi.org/10.1007/s11689-010-9067-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343 [article] Clinical assessment of DSM-IV anxiety disorders in fragile X syndrome: prevalence and characterization [Texte imprimé et/ou numérique] / L. CORDEIRO, Auteur ; Elizabeth C. BALLINGER, Auteur ; Randi J. HAGERMAN, Auteur ; D. HESSL, Auteur . - p.57-67. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 3-1 (March 2011) . - p.57-67 Mots-clés : Anxiety  Fragile X syndrome  Intellectual disability  Social phobia  Specific phobia Index. décimale : PER Périodiques Résumé : Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID). Anxiety and social withdrawal are considered core features of the FXS phenotype, yet there is limited diagnostic evidence of the prevalence of formal anxiety disorders in FXS. This study assessed the prevalence of anxiety disorders in a sample of 58 males and 39 females with FXS (ages 5.0-33.3 years). Participants' parents completed the Anxiety Disorders Interview Schedule (ADIS-IV), a clinical interview based on DSM-IV criteria, and the Anxiety Depression and Mood Scale (ADAMS), a psychiatric disorders screening instrument normed in ID. We conducted cognitive (IQ) and autism (AUT) assessments and surveyed medication use. Despite a high rate of psychopharmacological treatment, 86.2% of males and 76.9% of females met criteria for an anxiety disorder, with social phobia and specific phobia the most commonly diagnosed. Proband status, gender, and IQ were not significantly related to any anxiety disorders, however significantly higher rates of a few anxiety disorders were found in older age and AUT groups. Significant correlations between ADIS diagnoses and ADAMS scores provided cross-validation of instruments, indicating that the ADIS is suitable for use in FXS. A greater percentage of our sample met criteria for most anxiety disorders than has been reported in other ID groups or the general population. The rate of anxiety compared to general ID suggests that the FMR1 full mutation confers an especially high risk for these disorders, regardless of factors commonly associated with FXS clinical involvement. A thorough clinical assessment and treatment of anxiety should be included in the FXS standard of care. En ligne : http://dx.doi.org/10.1007/s11689-010-9067-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=343

Cognitive training for children and adolescents with fragile X syndrome: a randomized controlled trial of Cogmed / D. HESSL in Journal of Neurodevelopmental Disorders, 11-1 (December 2019)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 4 p. Titre : Cognitive training for children and adolescents with fragile X syndrome: a randomized controlled trial of Cogmed Type de document : Texte imprimé et/ou numérique Auteurs : D. HESSL, Auteur ; Julie B. SCHWEITZER, Auteur ; D. V. NGUYEN, Auteur ; Y. A. MCLENNAN, Auteur ; C. JOHNSTON, Auteur ; R. SHICKMAN, Auteur ; Y. CHEN, Auteur Article en page(s) : 4 p. Langues : Anglais (eng) Mots-clés : FMR1 gene  Fragile X mental retardation protein  Intellectual disability  Treatment  Working memory Index. décimale : PER Périodiques Résumé : BACKGROUND: Individuals with fragile X syndrome (FXS) typically demonstrate profound executive function (EF) deficits that interfere with learning, socialization, and emotion regulation. We completed the first large, non-pharmacological controlled trial for FXS, designed to evaluate the efficacy of Cogmed, a computer/tablet-based working memory (WM) training program. METHODS: The study was a randomized, blinded, parallel two-arm controlled trial in 100 children and adolescents with FXS (63 male, 37 female; 15.28 +/- 3.36 yrs.). Participants were randomized equally to adaptive (difficulty level adjusted to performance) or non-adaptive (control) Cogmed training. Participants were assessed at home using objective measures of WM (primary outcome) and EF at baseline, following 20-25 caregiver-supported sessions over 5-6 weeks, and at follow-up 3 months after cessation of training. Parents and teachers provided ratings of WM, attention, and EF. RESULTS: The WM composite and selective domains of EF (distractibility, cognitive flexibility), as well as parent- and teacher-reported attention and EF, significantly improved across the full study sample, with many changes maintained at follow-up. However, comparisons of improvement between adaptive and non-adaptive control conditions did not differ, showing that progressively challenging the WM system by expanding span length did not provide added benefit overall. CONCLUSIONS: Further experimental comparisons are needed before Cogmed working memory training can be considered empirically validated for children with FXS, forming the basis of treatment recommendation. However, given that prior studies show no significant changes on these measures in FXS without treatment, that improvements were maintained for 3 months, and that blinded teachers reported improvements in the classroom, the modest benefits seen in both adaptive and non-adaptive groups overall are unlikely to be attributable to placebo or practice effects alone. Future analyses examining inter-individual differences (e.g., baseline capacity, training efficiency, co-morbidity, training environment, characteristics of training aide) may help to link this intervention to outcomes and potential transfer effects. TRIAL REGISTRATION: US National Institutes of Health (ClinicalTrials.gov), NCT02747394 . En ligne : https://dx.doi.org/10.1186/s11689-019-9264-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409 [article] Cognitive training for children and adolescents with fragile X syndrome: a randomized controlled trial of Cogmed [Texte imprimé et/ou numérique] / D. HESSL, Auteur ; Julie B. SCHWEITZER, Auteur ; D. V. NGUYEN, Auteur ; Y. A. MCLENNAN, Auteur ; C. JOHNSTON, Auteur ; R. SHICKMAN, Auteur ; Y. CHEN, Auteur . - 4 p. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 4 p. Mots-clés : FMR1 gene  Fragile X mental retardation protein  Intellectual disability  Treatment  Working memory Index. décimale : PER Périodiques Résumé : BACKGROUND: Individuals with fragile X syndrome (FXS) typically demonstrate profound executive function (EF) deficits that interfere with learning, socialization, and emotion regulation. We completed the first large, non-pharmacological controlled trial for FXS, designed to evaluate the efficacy of Cogmed, a computer/tablet-based working memory (WM) training program. METHODS: The study was a randomized, blinded, parallel two-arm controlled trial in 100 children and adolescents with FXS (63 male, 37 female; 15.28 +/- 3.36 yrs.). Participants were randomized equally to adaptive (difficulty level adjusted to performance) or non-adaptive (control) Cogmed training. Participants were assessed at home using objective measures of WM (primary outcome) and EF at baseline, following 20-25 caregiver-supported sessions over 5-6 weeks, and at follow-up 3 months after cessation of training. Parents and teachers provided ratings of WM, attention, and EF. RESULTS: The WM composite and selective domains of EF (distractibility, cognitive flexibility), as well as parent- and teacher-reported attention and EF, significantly improved across the full study sample, with many changes maintained at follow-up. However, comparisons of improvement between adaptive and non-adaptive control conditions did not differ, showing that progressively challenging the WM system by expanding span length did not provide added benefit overall. CONCLUSIONS: Further experimental comparisons are needed before Cogmed working memory training can be considered empirically validated for children with FXS, forming the basis of treatment recommendation. However, given that prior studies show no significant changes on these measures in FXS without treatment, that improvements were maintained for 3 months, and that blinded teachers reported improvements in the classroom, the modest benefits seen in both adaptive and non-adaptive groups overall are unlikely to be attributable to placebo or practice effects alone. Future analyses examining inter-individual differences (e.g., baseline capacity, training efficiency, co-morbidity, training environment, characteristics of training aide) may help to link this intervention to outcomes and potential transfer effects. TRIAL REGISTRATION: US National Institutes of Health (ClinicalTrials.gov), NCT02747394 . En ligne : https://dx.doi.org/10.1186/s11689-019-9264-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409

Extending the Parent-Delivered Early Start Denver Model to Young Children with Fragile X Syndrome / Laurie A. VISMARA in Journal of Autism and Developmental Disorders, 49-3 (March 2019)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 49-3 (March 2019) . - p.1250-1266 Titre : Extending the Parent-Delivered Early Start Denver Model to Young Children with Fragile X Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Laurie A. VISMARA, Auteur ; C. E. B. MCCORMICK, Auteur ; R. SHIELDS, Auteur ; D. HESSL, Auteur Article en page(s) : p.1250-1266 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Early Start Denver Model  Early intervention  Fragile X syndrome  Parent-mediated Index. décimale : PER Périodiques Résumé : This is the first study to evaluate an autism intervention model, the parent-delivered Early Start Denver Model (P-ESDM), for young children with fragile X syndrome (FXS), a known genetic disorder associated with autism spectrum disorder. Four parent-child dyads participated in a low-intensity, parent coaching model of the P-ESDM to evaluate initial efficacy and acceptability. Parents improved in P-ESDM fidelity, implemented intervention goals to increase child learning, and found the experience moderately to highly acceptable. Visual examination and Baseline Corrected Tau effect sizes revealed mixed results across child measures. Findings suggest a potential therapeutic opportunity in need of larger, well-controlled studies of P-ESDM and other interventions for families of young children with FXS who face limited empirically-supported intervention options. En ligne : http://dx.doi.org/10.1007/s10803-018-3833-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386 [article] Extending the Parent-Delivered Early Start Denver Model to Young Children with Fragile X Syndrome [Texte imprimé et/ou numérique] / Laurie A. VISMARA, Auteur ; C. E. B. MCCORMICK, Auteur ; R. SHIELDS, Auteur ; D. HESSL, Auteur . - p.1250-1266. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 49-3 (March 2019) . - p.1250-1266 Mots-clés : Autism spectrum disorder  Early Start Denver Model  Early intervention  Fragile X syndrome  Parent-mediated Index. décimale : PER Périodiques Résumé : This is the first study to evaluate an autism intervention model, the parent-delivered Early Start Denver Model (P-ESDM), for young children with fragile X syndrome (FXS), a known genetic disorder associated with autism spectrum disorder. Four parent-child dyads participated in a low-intensity, parent coaching model of the P-ESDM to evaluate initial efficacy and acceptability. Parents improved in P-ESDM fidelity, implemented intervention goals to increase child learning, and found the experience moderately to highly acceptable. Visual examination and Baseline Corrected Tau effect sizes revealed mixed results across child measures. Findings suggest a potential therapeutic opportunity in need of larger, well-controlled studies of P-ESDM and other interventions for families of young children with FXS who face limited empirically-supported intervention options. En ligne : http://dx.doi.org/10.1007/s10803-018-3833-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=386

Feasibility, reliability, and clinical validity of the Test of Attentional Performance for Children (KiTAP) in Fragile X syndrome (FXS) / A. KNOX in Journal of Neurodevelopmental Disorders, 4-1 (December 2012)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 4-1 (December 2012) . - p.2 Titre : Feasibility, reliability, and clinical validity of the Test of Attentional Performance for Children (KiTAP) in Fragile X syndrome (FXS) Type de document : Texte imprimé et/ou numérique Auteurs : A. KNOX, Auteur ; A. SCHNEIDER, Auteur ; F. ABUCAYAN, Auteur ; C. HERVEY, Auteur ; C. TRAN, Auteur ; D. HESSL, Auteur ; Elizabeth BERRY-KRAVIS, Auteur Article en page(s) : p.2 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : BACKGROUND: Attention and inhibition are core executive-function deficits in FRagile X syndrome (FXS). This pilot study evaluated the feasibility, reproducibility, and clinical relevance of the KiTAP, a computer-based pictorial measure of attention and inhibition with an enchanted-castle theme, in an FXS cohort. METHODS: The 8-subtest KiTAP battery (as many subtests as each could perform) was given to 36 subjects with FXS, of variable age and cognitive/behavioral functioning, and 29 were retested, with an interval of 2 to 4 weeks between sessions. Subjects were rated by parents on the Aberrant Behavior Checklist-Community Edition (ABC-C) and Behavior Assessment System for Children, Second Edition (BASC-2). Feasibility, ceiling and basal effects, and data range and distribution analyses were used to eliminate outliers and invalid data points. Reproducibility of scores was analyzed using intraclass correlation coefficients (ICCs) and validity/clinical relevance was assessed by correlating KiTAP scores with ABC-C and BASC-2 scores. RESULTS: Most of the participants with FXS were able to complete the Alertness, Distractibility, Flexibility, and Go/NoGo subtests.About 50 to 60% completed the Visual Scanning and Vigilance subtests, and 20 to 25% completed the Sustained Attention and Divided Attention subtests. A panel of seven scores from four subtests were identified as feasible for most subjects, lacked excessive ceiling, basal, or learning effects, exhibited an acceptable range and distribution of scores, had good reproducibility (ICC > 0.7), and correlated with behavioral ratings for hyperactivity or attention (P < 0.01). Only minor differences in performance on the KiTAP were seen between mental age-matched cohorts of subjects with FXS and non-FXS intellectual disability. CONCLUSIONS: The KiTAP can be administered to cohorts with FXS over a wide range of function with valid reproducible scores. With additional validation, it could represent a useful outcome measure for assessment of attention/executive-function abilities in clinical trials targeted to these core deficits in FXS. En ligne : http://dx.doi.org/10.1186/1866-1955-4-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=344 [article] Feasibility, reliability, and clinical validity of the Test of Attentional Performance for Children (KiTAP) in Fragile X syndrome (FXS) [Texte imprimé et/ou numérique] / A. KNOX, Auteur ; A. SCHNEIDER, Auteur ; F. ABUCAYAN, Auteur ; C. HERVEY, Auteur ; C. TRAN, Auteur ; D. HESSL, Auteur ; Elizabeth BERRY-KRAVIS, Auteur . - p.2. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 4-1 (December 2012) . - p.2 Index. décimale : PER Périodiques Résumé : BACKGROUND: Attention and inhibition are core executive-function deficits in FRagile X syndrome (FXS). This pilot study evaluated the feasibility, reproducibility, and clinical relevance of the KiTAP, a computer-based pictorial measure of attention and inhibition with an enchanted-castle theme, in an FXS cohort. METHODS: The 8-subtest KiTAP battery (as many subtests as each could perform) was given to 36 subjects with FXS, of variable age and cognitive/behavioral functioning, and 29 were retested, with an interval of 2 to 4 weeks between sessions. Subjects were rated by parents on the Aberrant Behavior Checklist-Community Edition (ABC-C) and Behavior Assessment System for Children, Second Edition (BASC-2). Feasibility, ceiling and basal effects, and data range and distribution analyses were used to eliminate outliers and invalid data points. Reproducibility of scores was analyzed using intraclass correlation coefficients (ICCs) and validity/clinical relevance was assessed by correlating KiTAP scores with ABC-C and BASC-2 scores. RESULTS: Most of the participants with FXS were able to complete the Alertness, Distractibility, Flexibility, and Go/NoGo subtests.About 50 to 60% completed the Visual Scanning and Vigilance subtests, and 20 to 25% completed the Sustained Attention and Divided Attention subtests. A panel of seven scores from four subtests were identified as feasible for most subjects, lacked excessive ceiling, basal, or learning effects, exhibited an acceptable range and distribution of scores, had good reproducibility (ICC > 0.7), and correlated with behavioral ratings for hyperactivity or attention (P < 0.01). Only minor differences in performance on the KiTAP were seen between mental age-matched cohorts of subjects with FXS and non-FXS intellectual disability. CONCLUSIONS: The KiTAP can be administered to cohorts with FXS over a wide range of function with valid reproducible scores. With additional validation, it could represent a useful outcome measure for assessment of attention/executive-function abilities in clinical trials targeted to these core deficits in FXS. En ligne : http://dx.doi.org/10.1186/1866-1955-4-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=344

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

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Improving IQ measurement in intellectual disabilities using true deviation from population norms / Stephanie M. SANSONE in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

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A randomized double-blind, placebo-controlled trial of ganaxolone in children and adolescents with fragile X syndrome / A. LIGSAY in Journal of Neurodevelopmental Disorders, 9-1 (December 2017)  

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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)  

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The NIH Toolbox Cognitive Battery for intellectual disabilities: three preliminary studies and future directions / D. HESSL in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)  

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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)  

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