Associated features in females with an FMR1 premutation / Anne C. WHEELER in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.30 Titre : Associated features in females with an FMR1 premutation Type de document : texte imprimé Auteurs : Anne C. WHEELER, Auteur ; Donald B. Jr BAILEY, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Jan S. GREENBERG, Auteur ; Molly LOSH, Auteur ; Marsha R. MAILICK, Auteur ; M. MILA, Auteur ; John M. OLICHNEY, Auteur ; Laia RODRIGUEZ-REVENGA, Auteur ; Stephanie SHERMAN, Auteur ; Leann SMITH, Auteur ; Scott SUMMERS, Auteur ; Jin-Chen YANG, Auteur ; Randi J. HAGERMAN, Auteur Article en page(s) : p.30 Langues : Anglais (eng) Mots-clés : FMR1 premutation  fragile X  health risks Index. décimale : PER Périodiques Résumé : Changes in the fragile X mental retardation 1 gene (FMR1) have been associated with specific phenotypes, most specifically those of fragile X syndrome (FXS), fragile X tremor/ataxia syndrome (FXTAS), and fragile X primary ovarian insufficiency (FXPOI). Evidence of increased risk for additional medical, psychiatric, and cognitive features and conditions is now known to exist for individuals with a premutation, although some features have been more thoroughly studied than others. This review highlights the literature on medical, reproductive, cognitive, and psychiatric features, primarily in females, that have been suggested to be associated with changes in the FMR1 gene. Based on this review, each feature is evaluated with regard to the strength of evidence of association with the premutation. Areas of need for additional focused research and possible intervention strategies are suggested. En ligne : http://dx.doi.org/10.1186/1866-1955-6-30 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346 [article] Associated features in females with an FMR1 premutation [texte imprimé] / Anne C. WHEELER, Auteur ; Donald B. Jr BAILEY, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Jan S. GREENBERG, Auteur ; Molly LOSH, Auteur ; Marsha R. MAILICK, Auteur ; M. MILA, Auteur ; John M. OLICHNEY, Auteur ; Laia RODRIGUEZ-REVENGA, Auteur ; Stephanie SHERMAN, Auteur ; Leann SMITH, Auteur ; Scott SUMMERS, Auteur ; Jin-Chen YANG, Auteur ; Randi J. HAGERMAN, Auteur . - p.30. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 6-1 (December 2014) . - p.30 Mots-clés : FMR1 premutation  fragile X  health risks Index. décimale : PER Périodiques Résumé : Changes in the fragile X mental retardation 1 gene (FMR1) have been associated with specific phenotypes, most specifically those of fragile X syndrome (FXS), fragile X tremor/ataxia syndrome (FXTAS), and fragile X primary ovarian insufficiency (FXPOI). Evidence of increased risk for additional medical, psychiatric, and cognitive features and conditions is now known to exist for individuals with a premutation, although some features have been more thoroughly studied than others. This review highlights the literature on medical, reproductive, cognitive, and psychiatric features, primarily in females, that have been suggested to be associated with changes in the FMR1 gene. Based on this review, each feature is evaluated with regard to the strength of evidence of association with the premutation. Areas of need for additional focused research and possible intervention strategies are suggested. En ligne : http://dx.doi.org/10.1186/1866-1955-6-30 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=346

Capturing cognitive and behavioral variability among individuals with Down syndrome: a latent profile analysis / Marie Moore CHANNELL in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Capturing cognitive and behavioral variability among individuals with Down syndrome: a latent profile analysis Type de document : texte imprimé Auteurs : Marie Moore CHANNELL, Auteur ; Laura J. MATTIE, Auteur ; Debra R. HAMILTON, Auteur ; George T. CAPONE, Auteur ; E. Mark MAHONE, Auteur ; Stephanie L. SHERMAN, Auteur ; Tracie C. ROSSER, Auteur ; Roger H. REEVES, Auteur ; Luther G. KALB, Auteur Langues : Anglais (eng) Mots-clés : Adaptation, Psychological  Adolescent  Adult  Autism Spectrum Disorder  Child  Cognition  Down Syndrome  Executive Function  Female  Humans  Male  Young Adult  Adaptive behavior  Autism symptomatology  Down syndrome  Intellectual disability  Latent profile analysis  Maladaptive behavior  Phenotypes Index. décimale : PER Périodiques Résumé : BACKGROUND: There is a high degree of inter- and intra-individual variability observed within the phenotype of Down syndrome. The Down Syndrome Cognition Project was formed to capture this variability by developing a large nationwide database of cognitive, behavioral, health, and genetic information on individuals with Down syndrome, ages 6-25 years. The current study used the Down Syndrome Cognition Project database to characterize cognitive and behavioral variability among individuals with Down syndrome. METHODS: Latent profile analysis was used to identify classes across a sample of 314 participants based on their cognition (IQ and executive functioning), adaptive and maladaptive behavior, and autism spectrum disorder symptomatology. A multivariate multinomial regression model simultaneously examined demographic correlates of class. RESULTS: Results supported a 3-class model. Each class demonstrated a unique profile across the subdomains of cognition and behavior. The "normative" class was the largest (n = 153, 48%) and displayed a relatively consistent profile of cognition and adaptive behavior, with low rates of maladaptive behavior and autism symptomatology. The "cognitive" class (n = 109, 35%) displayed low cognitive scores and adaptive behavior and more autism symptomatology, but with low rates of maladaptive behavior. The "behavioral" class, the smallest group (n = 52, 17%), demonstrated higher rates of maladaptive behavior and autism symptomatology, but with cognition levels similar to the "normative" class; their adaptive behavior scores fell in between the other two classes. Household income and sex were the only demographic variables to differ among classes. CONCLUSIONS: These findings highlight the importance of subtyping the cognitive and behavioral phenotype among individuals with Down syndrome to identify more homogeneous classes for future intervention and etiologic studies. Results also demonstrate the feasibility of using latent profile analysis to distinguish subtypes in this population. Limitations and future directions are discussed. En ligne : https://dx.doi.org/10.1186/s11689-021-09365-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Capturing cognitive and behavioral variability among individuals with Down syndrome: a latent profile analysis [texte imprimé] / Marie Moore CHANNELL, Auteur ; Laura J. MATTIE, Auteur ; Debra R. HAMILTON, Auteur ; George T. CAPONE, Auteur ; E. Mark MAHONE, Auteur ; Stephanie L. SHERMAN, Auteur ; Tracie C. ROSSER, Auteur ; Roger H. REEVES, Auteur ; Luther G. KALB, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Adaptation, Psychological  Adolescent  Adult  Autism Spectrum Disorder  Child  Cognition  Down Syndrome  Executive Function  Female  Humans  Male  Young Adult  Adaptive behavior  Autism symptomatology  Down syndrome  Intellectual disability  Latent profile analysis  Maladaptive behavior  Phenotypes Index. décimale : PER Périodiques Résumé : BACKGROUND: There is a high degree of inter- and intra-individual variability observed within the phenotype of Down syndrome. The Down Syndrome Cognition Project was formed to capture this variability by developing a large nationwide database of cognitive, behavioral, health, and genetic information on individuals with Down syndrome, ages 6-25 years. The current study used the Down Syndrome Cognition Project database to characterize cognitive and behavioral variability among individuals with Down syndrome. METHODS: Latent profile analysis was used to identify classes across a sample of 314 participants based on their cognition (IQ and executive functioning), adaptive and maladaptive behavior, and autism spectrum disorder symptomatology. A multivariate multinomial regression model simultaneously examined demographic correlates of class. RESULTS: Results supported a 3-class model. Each class demonstrated a unique profile across the subdomains of cognition and behavior. The "normative" class was the largest (n = 153, 48%) and displayed a relatively consistent profile of cognition and adaptive behavior, with low rates of maladaptive behavior and autism symptomatology. The "cognitive" class (n = 109, 35%) displayed low cognitive scores and adaptive behavior and more autism symptomatology, but with low rates of maladaptive behavior. The "behavioral" class, the smallest group (n = 52, 17%), demonstrated higher rates of maladaptive behavior and autism symptomatology, but with cognition levels similar to the "normative" class; their adaptive behavior scores fell in between the other two classes. Household income and sex were the only demographic variables to differ among classes. CONCLUSIONS: These findings highlight the importance of subtyping the cognitive and behavioral phenotype among individuals with Down syndrome to identify more homogeneous classes for future intervention and etiologic studies. Results also demonstrate the feasibility of using latent profile analysis to distinguish subtypes in this population. Limitations and future directions are discussed. En ligne : https://dx.doi.org/10.1186/s11689-021-09365-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

Characteristics Associated with Autism Spectrum Disorder Risk in Individuals with Down Syndrome / Marie M. CHANNELL in Journal of Autism and Developmental Disorders, 49-9 (September 2019)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 49-9 (September 2019) . - p.3543-3556 Titre : Characteristics Associated with Autism Spectrum Disorder Risk in Individuals with Down Syndrome Type de document : texte imprimé Auteurs : Marie M. CHANNELL, Auteur ; Laura J. HAHN, Auteur ; Tracie C. ROSSER, Auteur ; Debra HAMILTON, Auteur ; Michelle A. FRANK-CRAWFORD, Auteur ; George T. CAPONE, Auteur ; Stephanie L. SHERMAN, Auteur Article en page(s) : p.3543-3556 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Down syndrome  Intellectual disability  Maladaptive behavior  Psychiatric comorbidities Index. décimale : PER Périodiques Résumé : We examined autism spectrum disorder (ASD) risk in a large national sample of 203 individuals with Down syndrome, 6-25 years old, to determine the association of ASD risk with age, sex, IQ, adaptive behaviors, and maladaptive behaviors. We used a two-pronged approach by (1) considering ASD symptomatology continuously across the sample of individuals with DS and examining associations with each characteristic, and (2) dichotomizing our sample into high and low ASD risk groups and comparing groups on each characteristic. The pattern of results was largely similar across both types of analyses. ASD symptomatology/risk was negatively associated with IQ and adaptive behaviors and positively associated with certain types of maladaptive behaviors. Clinical implications for screening and therapeutic purposes are discussed. En ligne : http://dx.doi.org/10.1007/s10803-019-04074-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=405 [article] Characteristics Associated with Autism Spectrum Disorder Risk in Individuals with Down Syndrome [texte imprimé] / Marie M. CHANNELL, Auteur ; Laura J. HAHN, Auteur ; Tracie C. ROSSER, Auteur ; Debra HAMILTON, Auteur ; Michelle A. FRANK-CRAWFORD, Auteur ; George T. CAPONE, Auteur ; Stephanie L. SHERMAN, Auteur . - p.3543-3556. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 49-9 (September 2019) . - p.3543-3556 Mots-clés : Autism spectrum disorder  Down syndrome  Intellectual disability  Maladaptive behavior  Psychiatric comorbidities Index. décimale : PER Périodiques Résumé : We examined autism spectrum disorder (ASD) risk in a large national sample of 203 individuals with Down syndrome, 6-25 years old, to determine the association of ASD risk with age, sex, IQ, adaptive behaviors, and maladaptive behaviors. We used a two-pronged approach by (1) considering ASD symptomatology continuously across the sample of individuals with DS and examining associations with each characteristic, and (2) dichotomizing our sample into high and low ASD risk groups and comparing groups on each characteristic. The pattern of results was largely similar across both types of analyses. ASD symptomatology/risk was negatively associated with IQ and adaptive behaviors and positively associated with certain types of maladaptive behaviors. Clinical implications for screening and therapeutic purposes are discussed. En ligne : http://dx.doi.org/10.1007/s10803-019-04074-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=405

Correction to: Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: feasibility, practice effects, test-retest reliability, and construct validity / Leonard ABBEDUTO in Journal of Neurodevelopmental Disorders, 12 (2020)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 12 (2020) Titre : Correction to: Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: feasibility, practice effects, test-retest reliability, and construct validity Type de document : texte imprimé Auteurs : Leonard ABBEDUTO, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Audra STERLING, Auteur ; Stephanie SHERMAN, Auteur ; Jamie O. EDGIN, Auteur ; Andrea MCDUFFIE, Auteur ; Anne HOFFMANN, Auteur ; Debra HAMILTON, Auteur ; Michael NELSON, Auteur ; Jeannie ASCHKENASY, Auteur ; Angela John THURMAN, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : In the original publication of this article [1], the author name Leonard Abbeduto was misspelled as Leonardkk Abbeduto. The original article has been corrected. En ligne : https://dx.doi.org/10.1186/s11689-020-09314-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] Correction to: Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: feasibility, practice effects, test-retest reliability, and construct validity [texte imprimé] / Leonard ABBEDUTO, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Audra STERLING, Auteur ; Stephanie SHERMAN, Auteur ; Jamie O. EDGIN, Auteur ; Andrea MCDUFFIE, Auteur ; Anne HOFFMANN, Auteur ; Debra HAMILTON, Auteur ; Michael NELSON, Auteur ; Jeannie ASCHKENASY, Auteur ; Angela John THURMAN, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 12 (2020) Index. décimale : PER Périodiques Résumé : In the original publication of this article [1], the author name Leonard Abbeduto was misspelled as Leonardkk Abbeduto. The original article has been corrected. En ligne : https://dx.doi.org/10.1186/s11689-020-09314-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

Development and validation of the Arizona Cognitive Test Battery for Down syndrome / Jamie O. EDGIN in Journal of Neurodevelopmental Disorders, 2-3 (September 2010)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 2-3 (September 2010) . - p.149-164 Titre : Development and validation of the Arizona Cognitive Test Battery for Down syndrome Type de document : texte imprimé Auteurs : Jamie O. EDGIN, Auteur ; Gina M. MASON, Auteur ; Melissa J. ALLMAN, Auteur ; George T. CAPONE, Auteur ; Iser DELEON, Auteur ; Cheryl MASLEN, Auteur ; Roger H. REEVES, Auteur ; Stephanie L. SHERMAN, Auteur ; Lynn NADEL, Auteur Article en page(s) : p.149-164 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Neurocognitive assessment in individuals with intellectual disabilities requires a well-validated test battery. To meet this need, the Arizona Cognitive Test Battery (ACTB) has been developed specifically to assess the cognitive phenotype in Down syndrome (DS). The ACTB includes neuropsychological assessments chosen to 1) assess a range of skills, 2) be non-verbal so as to not confound the neuropsychological assessment with language demands, 3) have distributional properties appropriate for research studies to identify genetic modifiers of variation, 4) show sensitivity to within and between sample differences, 5) have specific correlates with brain function, and 6) be applicable to a wide age range and across contexts. The ACTB includes tests of general cognitive ability and prefrontal, hippocampal and cerebellar function. These tasks were drawn from the Cambridge Neuropsychological Testing Automated Battery (CANTAB) and other established paradigms. Alongside the cognitive testing battery we administered benchmark and parent-report assessments of cognition and behavior. Individuals with DS (n=74, ages 7-38 years) and mental age (MA) matched controls (n=50, ages 3-8 years) were tested across 3 sites. A subsample of these groups were used for between-group comparisons, including 55 individuals with DS and 36 mental age matched controls. The ACTB allows for low floor performance levels and participant loss. Floor effects were greater in younger children. Individuals with DS were impaired on a number ACTB tests in comparison to a MA-matched sample, with some areas of spared ability, particularly on tests requiring extensive motor coordination. Battery measures correlated with parent report of behavior and development. The ACTB provided consistent results across contexts, including home vs. lab visits, cross-site, and among individuals with a wide range of socio-economic backgrounds and differences in ethnicity. The ACTB will be useful in a range of outcome studies, including clinical trials and the identification of important genetic components of cognitive disability. En ligne : http://dx.doi.org/10.1007/s11689-010-9054-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342 [article] Development and validation of the Arizona Cognitive Test Battery for Down syndrome [texte imprimé] / Jamie O. EDGIN, Auteur ; Gina M. MASON, Auteur ; Melissa J. ALLMAN, Auteur ; George T. CAPONE, Auteur ; Iser DELEON, Auteur ; Cheryl MASLEN, Auteur ; Roger H. REEVES, Auteur ; Stephanie L. SHERMAN, Auteur ; Lynn NADEL, Auteur . - p.149-164. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 2-3 (September 2010) . - p.149-164 Index. décimale : PER Périodiques Résumé : Neurocognitive assessment in individuals with intellectual disabilities requires a well-validated test battery. To meet this need, the Arizona Cognitive Test Battery (ACTB) has been developed specifically to assess the cognitive phenotype in Down syndrome (DS). The ACTB includes neuropsychological assessments chosen to 1) assess a range of skills, 2) be non-verbal so as to not confound the neuropsychological assessment with language demands, 3) have distributional properties appropriate for research studies to identify genetic modifiers of variation, 4) show sensitivity to within and between sample differences, 5) have specific correlates with brain function, and 6) be applicable to a wide age range and across contexts. The ACTB includes tests of general cognitive ability and prefrontal, hippocampal and cerebellar function. These tasks were drawn from the Cambridge Neuropsychological Testing Automated Battery (CANTAB) and other established paradigms. Alongside the cognitive testing battery we administered benchmark and parent-report assessments of cognition and behavior. Individuals with DS (n=74, ages 7-38 years) and mental age (MA) matched controls (n=50, ages 3-8 years) were tested across 3 sites. A subsample of these groups were used for between-group comparisons, including 55 individuals with DS and 36 mental age matched controls. The ACTB allows for low floor performance levels and participant loss. Floor effects were greater in younger children. Individuals with DS were impaired on a number ACTB tests in comparison to a MA-matched sample, with some areas of spared ability, particularly on tests requiring extensive motor coordination. Battery measures correlated with parent report of behavior and development. The ACTB provided consistent results across contexts, including home vs. lab visits, cross-site, and among individuals with a wide range of socio-economic backgrounds and differences in ethnicity. The ACTB will be useful in a range of outcome studies, including clinical trials and the identification of important genetic components of cognitive disability. En ligne : http://dx.doi.org/10.1007/s11689-010-9054-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=342

Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: feasibility, practice effects, test-retest reliability, and construct validity / Leonard ABBEDUTO in Journal of Neurodevelopmental Disorders, 12 (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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The cognitive neuropsychological phenotype of carriers of the FMR1 premutation / Jim GRIGSBY in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

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Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI) / Stephanie L. SHERMAN in Journal of Neurodevelopmental Disorders, 6-1 (December 2014)  

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