Associations Among Sex, Cognitive Ability, and Autism Symptoms in Individuals with Down Syndrome / Audra STERLING ; Jamie EDGIN ; Debra R. HAMILTON ; Elizabeth BERRY-KRAVIS ; Amanda DIMACHKIE NUNNALLY ; Angela John THURMAN ; Leonard ABBEDUTO in Journal of Autism and Developmental Disorders, 54-1 (January 2024)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 54-1 (January 2024) . - p.301-311 Titre : Associations Among Sex, Cognitive Ability, and Autism Symptoms in Individuals with Down Syndrome Type de document : texte imprimé Auteurs : Audra STERLING, Auteur ; Jamie EDGIN, Auteur ; Debra R. HAMILTON, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Amanda DIMACHKIE NUNNALLY, Auteur ; Angela John THURMAN, Auteur ; Leonard ABBEDUTO, Auteur Article en page(s) : p.301-311 Index. décimale : PER Périodiques Résumé : This study explores sex-differences in (a) rates and profiles of autism symptoms as well as in (b) the contribution of intellectual quotient (IQ) to autism symptom presentation in Down syndrome (DS). Participants were 40 males and 38 females with DS, aged 6 to 23 years. Autism symptoms were rated through the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2). Results show no sex differences in the ADOS-2 Calibrated Severity Scores (CSS). However, only females with DS who are classified as DS-Only have higher scores on verbal IQ than those classified as DS+autism. Furthermore, associations between IQ and all CSSs are found for females, but not for males. Findings suggest that verbal cognition may play differential roles for females and males with DS. En ligne : https://doi.org/10.1007/s10803-022-05779-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=520 [article] Associations Among Sex, Cognitive Ability, and Autism Symptoms in Individuals with Down Syndrome [texte imprimé] / Audra STERLING, Auteur ; Jamie EDGIN, Auteur ; Debra R. HAMILTON, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Amanda DIMACHKIE NUNNALLY, Auteur ; Angela John THURMAN, Auteur ; Leonard ABBEDUTO, Auteur . - p.301-311. in Journal of Autism and Developmental Disorders > 54-1 (January 2024) . - p.301-311 Index. décimale : PER Périodiques Résumé : This study explores sex-differences in (a) rates and profiles of autism symptoms as well as in (b) the contribution of intellectual quotient (IQ) to autism symptom presentation in Down syndrome (DS). Participants were 40 males and 38 females with DS, aged 6 to 23 years. Autism symptoms were rated through the Autism Diagnostic Observation Schedule-Second Edition (ADOS-2). Results show no sex differences in the ADOS-2 Calibrated Severity Scores (CSS). However, only females with DS who are classified as DS-Only have higher scores on verbal IQ than those classified as DS+autism. Furthermore, associations between IQ and all CSSs are found for females, but not for males. Findings suggest that verbal cognition may play differential roles for females and males with DS. En ligne : https://doi.org/10.1007/s10803-022-05779-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=520

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

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 : 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) Mots-clés : Adolescent  Autistic Disorder/diagnosis  Child  Feasibility Studies  Female  Fragile X Syndrome/therapy  Humans  Language Tests/statistics & numerical data  Male  Outcome Assessment, Health Care  Psychometrics  Reproducibility of Results  Young Adult  Clinical trials  Expressive language  Fragile X syndrome  Outcome measures  treatment  Pharmaceuticals Ltd., Fulcrum Therapeutics, and Lumind to consult on and  implement outcome measures in clinical trials for FXS and Down syndrome. EBK has  received funding from Seaside Therapeutics, Novartis, Roche, Alcobra, Neuren,  Cydan, Fulcrum, GW, Neurotrope, Marinus, Zynerba, BioMarin, Lumos, Ovid, AMO,  Yamo, Ionis, GeneTx, Acadia, Neurogene, Ultragenyx, and  Vtesse/Sucampo/Mallinkcrodt Pharmaceuticals to consult on trial design or  development strategies and/or conduct clinical trials in FXS or other genetic  Neurodevelopmental or neurodegenerative disorders, and from Asuragen Inc. to  develop testing standards for FMR1 testing. AJT has received funding from Fulcrum  Therapeutics to develop outcome measures for FXS. The other authors declare that  they have no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: The evaluation of treatment efficacy for individuals with fragile X syndrome (FXS) or intellectual disability (ID) more generally has been hampered by the lack of adequate outcome measures. We evaluated expressive language sampling (ELS) as a procedure for generating outcome measures for treatment research in FXS. We addressed: (a) feasibility, (b) practice effects over two administrations, (c) test-retest reliability over the repeated administrations, and (d) construct validity. We addressed these issues for the full sample as well as for subgroups defined by age, IQ, and ASD status. METHODS: Participants were 106 individuals with FXS between ages 6 and 23 years who had IQs within the range of intellectual disability (IQ < 70). ELS procedures for collecting samples in conversation and narration were followed and analyzed separately. Five measures were derived from transcripts segmented into C-units (i.e., an independent clause and its modifiers): number of C-units per minute (talkativeness), number of different word roots (vocabulary), C-unit length in morphemes (syntax), percentage of C-units containing dysfluency (utterance planning), and percentage of C-units that were fully or partly unintelligible (articulatory quality). ELS procedures were administered twice at 4-week intervals for each participant. Standardized tests and informant reports were administered and provided measures for evaluating construct validity of ELS measures. RESULTS: We found low rates of noncompliance, suggesting the task can be completed meaningfully by most individuals with FXS, although noncompliance was higher for younger, lower IQ, and more autistic participants. Minimal practice effects and strong test-retest reliability over the 4-week interval were observed for the full sample and across the range of ages, IQs, and autism symptom severity. Evidence of convergent construct validity was observed for the measures of vocabulary, syntax, and unintelligibility for the full sample and across the range of IQ and autism symptom severity, but not for participants under age 12. Conversation and narration yielded largely similar results in all analyses. CONCLUSIONS: The findings suggest that the ELS procedures are feasible and yield measures with adequate psychometric properties for a majority of 6 to 23 years with FXS who have ID. The procedures work equally well regardless of level of ID or degree of ASD severity. The procedures, however, are more challenging and have somewhat less adequate psychometric properties for individuals with FXS under age 12. En ligne : https://dx.doi.org/10.1186/s11689-020-09313-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573 [article] 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) Mots-clés : Adolescent  Autistic Disorder/diagnosis  Child  Feasibility Studies  Female  Fragile X Syndrome/therapy  Humans  Language Tests/statistics & numerical data  Male  Outcome Assessment, Health Care  Psychometrics  Reproducibility of Results  Young Adult  Clinical trials  Expressive language  Fragile X syndrome  Outcome measures  treatment  Pharmaceuticals Ltd., Fulcrum Therapeutics, and Lumind to consult on and  implement outcome measures in clinical trials for FXS and Down syndrome. EBK has  received funding from Seaside Therapeutics, Novartis, Roche, Alcobra, Neuren,  Cydan, Fulcrum, GW, Neurotrope, Marinus, Zynerba, BioMarin, Lumos, Ovid, AMO,  Yamo, Ionis, GeneTx, Acadia, Neurogene, Ultragenyx, and  Vtesse/Sucampo/Mallinkcrodt Pharmaceuticals to consult on trial design or  development strategies and/or conduct clinical trials in FXS or other genetic  Neurodevelopmental or neurodegenerative disorders, and from Asuragen Inc. to  develop testing standards for FMR1 testing. AJT has received funding from Fulcrum  Therapeutics to develop outcome measures for FXS. The other authors declare that  they have no competing interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: The evaluation of treatment efficacy for individuals with fragile X syndrome (FXS) or intellectual disability (ID) more generally has been hampered by the lack of adequate outcome measures. We evaluated expressive language sampling (ELS) as a procedure for generating outcome measures for treatment research in FXS. We addressed: (a) feasibility, (b) practice effects over two administrations, (c) test-retest reliability over the repeated administrations, and (d) construct validity. We addressed these issues for the full sample as well as for subgroups defined by age, IQ, and ASD status. METHODS: Participants were 106 individuals with FXS between ages 6 and 23 years who had IQs within the range of intellectual disability (IQ < 70). ELS procedures for collecting samples in conversation and narration were followed and analyzed separately. Five measures were derived from transcripts segmented into C-units (i.e., an independent clause and its modifiers): number of C-units per minute (talkativeness), number of different word roots (vocabulary), C-unit length in morphemes (syntax), percentage of C-units containing dysfluency (utterance planning), and percentage of C-units that were fully or partly unintelligible (articulatory quality). ELS procedures were administered twice at 4-week intervals for each participant. Standardized tests and informant reports were administered and provided measures for evaluating construct validity of ELS measures. RESULTS: We found low rates of noncompliance, suggesting the task can be completed meaningfully by most individuals with FXS, although noncompliance was higher for younger, lower IQ, and more autistic participants. Minimal practice effects and strong test-retest reliability over the 4-week interval were observed for the full sample and across the range of ages, IQs, and autism symptom severity. Evidence of convergent construct validity was observed for the measures of vocabulary, syntax, and unintelligibility for the full sample and across the range of IQ and autism symptom severity, but not for participants under age 12. Conversation and narration yielded largely similar results in all analyses. CONCLUSIONS: The findings suggest that the ELS procedures are feasible and yield measures with adequate psychometric properties for a majority of 6 to 23 years with FXS who have ID. The procedures work equally well regardless of level of ID or degree of ASD severity. The procedures, however, are more challenging and have somewhat less adequate psychometric properties for individuals with FXS under age 12. En ligne : https://dx.doi.org/10.1186/s11689-020-09313-6 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=573

Spoken language outcome measures for treatment studies in Down syndrome: feasibility, practice effects, test-retest reliability, and construct validity of variables generated from expressive language sampling / Angela John THURMAN in Journal of Neurodevelopmental Disorders, 13 (2021)  

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