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Developmental Predictors of Cognitive and Adaptive Outcomes in Genetic Subtypes of Autism Spectrum Disorder / Anne B. ARNETT in Autism Research, 13-10 (October 2020)
[article]
Titre : Developmental Predictors of Cognitive and Adaptive Outcomes in Genetic Subtypes of Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Anne B. ARNETT, Auteur ; Jennifer BEIGHLEY, Auteur ; Evangeline C. KURTZ-NELSON, Auteur ; Kendra HOEKZEMA, Auteur ; Tianyun WANG, Auteur ; Raphael BERNIER, Auteur ; Evan E. EICHLER, Auteur Article en page(s) : p.1659-1669 Langues : Anglais (eng) Mots-clés : developmental psychology genetic/genomic syndromes genetics intellectual disability subtypes of ASD Index. décimale : PER Périodiques Résumé : Approximately one-fourth of autism spectrum disorder (ASD) cases are associated with a disruptive genetic variant. Many of these ASD genotypes have been described previously, and are characterized by unique constellations of medical, psychiatric, developmental, and behavioral features. Development of precision medicine care for affected individuals has been challenging due to the phenotypic heterogeneity that exists even within each genetic subtype. In the present study, we identify developmental milestones that predict cognitive and adaptive outcomes for five of the most common ASD genotypes. Sixty-five youth with a known pathogenic variant involving ADNP, CHD8, DYRK1A, GRIN2B, or SCN2A genes participated in cognitive and adaptive testing. Exploratory linear regressions were used to identify developmental milestones that predicted cognitive and adaptive outcomes within each gene group. We hypothesized that the earliest and most predictive milestones would vary across gene groups, but would be consistent across outcomes within each genetic subtype. Within the ADNP group, age of walking predicted cognitive outcomes, while age of first words predicted adaptive behaviors. Age of phrases predicted adaptive functioning in the CHD8 group, but cognitive outcomes were not clearly associated with early developmental milestones. Verbal milestones were the strongest predictors of cognitive and adaptive outcomes for individuals with mutations to DYRK1A, GRIN2B, or SCN2A. These trends inform decisions about treatment planning and long-term expectations for affected individuals, and they add to the growing body of research linking molecular genetic function to brain development and phenotypic outcomes. LAY SUMMARY: Researchers have found many genetic causes of autism including mutations to ADNP, CHD8, DYRK1A, GRIN2B, and SCN2A genes. We found that each genetic cause had different early developmental milestones that explained the overall functioning of the children when they were older. Depending on the genetic cause, the age that a child first starts walking and/or talking may help to better understand and support a child's development who has a mutation to one of the above genes. Autism Res 2020, 13: 1659-1669. © 2020 International Society for Autism Research and Wiley Periodicals LLC. En ligne : http://dx.doi.org/10.1002/aur.2385 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=431
in Autism Research > 13-10 (October 2020) . - p.1659-1669[article] Developmental Predictors of Cognitive and Adaptive Outcomes in Genetic Subtypes of Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Anne B. ARNETT, Auteur ; Jennifer BEIGHLEY, Auteur ; Evangeline C. KURTZ-NELSON, Auteur ; Kendra HOEKZEMA, Auteur ; Tianyun WANG, Auteur ; Raphael BERNIER, Auteur ; Evan E. EICHLER, Auteur . - p.1659-1669.
Langues : Anglais (eng)
in Autism Research > 13-10 (October 2020) . - p.1659-1669
Mots-clés : developmental psychology genetic/genomic syndromes genetics intellectual disability subtypes of ASD Index. décimale : PER Périodiques Résumé : Approximately one-fourth of autism spectrum disorder (ASD) cases are associated with a disruptive genetic variant. Many of these ASD genotypes have been described previously, and are characterized by unique constellations of medical, psychiatric, developmental, and behavioral features. Development of precision medicine care for affected individuals has been challenging due to the phenotypic heterogeneity that exists even within each genetic subtype. In the present study, we identify developmental milestones that predict cognitive and adaptive outcomes for five of the most common ASD genotypes. Sixty-five youth with a known pathogenic variant involving ADNP, CHD8, DYRK1A, GRIN2B, or SCN2A genes participated in cognitive and adaptive testing. Exploratory linear regressions were used to identify developmental milestones that predicted cognitive and adaptive outcomes within each gene group. We hypothesized that the earliest and most predictive milestones would vary across gene groups, but would be consistent across outcomes within each genetic subtype. Within the ADNP group, age of walking predicted cognitive outcomes, while age of first words predicted adaptive behaviors. Age of phrases predicted adaptive functioning in the CHD8 group, but cognitive outcomes were not clearly associated with early developmental milestones. Verbal milestones were the strongest predictors of cognitive and adaptive outcomes for individuals with mutations to DYRK1A, GRIN2B, or SCN2A. These trends inform decisions about treatment planning and long-term expectations for affected individuals, and they add to the growing body of research linking molecular genetic function to brain development and phenotypic outcomes. LAY SUMMARY: Researchers have found many genetic causes of autism including mutations to ADNP, CHD8, DYRK1A, GRIN2B, and SCN2A genes. We found that each genetic cause had different early developmental milestones that explained the overall functioning of the children when they were older. Depending on the genetic cause, the age that a child first starts walking and/or talking may help to better understand and support a child's development who has a mutation to one of the above genes. Autism Res 2020, 13: 1659-1669. © 2020 International Society for Autism Research and Wiley Periodicals LLC. En ligne : http://dx.doi.org/10.1002/aur.2385 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=431 Using the NIH Toolbox to Assess Cognition in Adolescents and Young Adults with Autism Spectrum Disorders / Marjorie SOLOMON in Autism Research, 14-3 (March 2021)
[article]
Titre : Using the NIH Toolbox to Assess Cognition in Adolescents and Young Adults with Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Marjorie SOLOMON, Auteur ; Andrew GORDON, Auteur ; Ana-Maria IOSIF, Auteur ; Raphael GEDDERT, Auteur ; Marie K. KRUG, Auteur ; Peter C. MUNDY, Auteur ; David HESSL, Auteur Article en page(s) : p.500-511 Langues : Anglais (eng) Mots-clés : NIH Toolbox adolescents adults cognitive control executive control executive functions latent profile analysis phenotypes subtypes of ASD young adults Index. décimale : PER Périodiques Résumé : Despite the clinically significant impact of executive dysfunction on the outcomes of adolescents and young adults with autism spectrum disorders (ASD), we lack a clear understanding of its prevalence, profile, and development. To address this gap, we administered the NIH Toolbox Cognition Battery to a cross-sectional Intelligence Quotient (IQ) case-matched cohort with ASD (n = 66) and typical development (TD; n = 66) ages 12-22. We used a general linear model framework to examine group differences in task performance and their associations with age. Latent profile analysis (LPA) was used to identify subgroups of individuals with similar cognitive profiles. Compared to IQ case-matched controls, ASD demonstrated poorer performance on inhibitory control (P?0.001), cognitive flexibility (P?0.001), episodic memory (P?0.02), and processing speed (P?0.001) (components of Fluid Cognition), but not on vocabulary or word reading (components of Crystallized Cognition). There was a significant positive association between age and Crystallized and Fluid Cognition in both groups. For Fluid (but not Crystallized) Cognition, ASD performed more poorly than TD at all ages. A four-group LPA model based on subtest scores best fit the data. Eighty percent of ASD belonged to two groups that exhibited relatively stronger Crystallized versus Fluid Cognition. Attention deficits were not associated with Toolbox subtest scores, but were lowest in the group with the lowest proportion of autistic participants. Adaptive functioning was poorer in the groups with the greatest proportion of autistic participants. Autistic persons are especially impaired on Fluid Cognition, and this more flexible form of thinking remains poorer in the ASD group through adolescence. LAY SUMMARY: A set of brief tests of cognitive functioning called the NIH Toolbox Cognition Battery was administered to adolescents and young adults with autism spectrum disorders (ASD; n =?66) and typical development (TD; n =?66) ages 12-22?years. Compared to TD, ASD showed poorer performance in inhibiting responses, acting flexibly, memorizing events, and processing information quickly (Fluid Cognition). Groups did not differ on vocabulary or word reading (Crystallized Cognition). Crystallized and Fluid Cognition increased with age in both groups, but the ASD group showed lower Fluid, but not Crystallized, Cognition than TD at all ages. A categorization analysis including all participants showed that most participants with ASD fell into one of two categories: a group characterized by poor performance across all tasks, or a group characterized by relatively stronger Crystallized compared to Fluid Cognition. Adaptive functioning was poorer for participants in these groups, which consisted of mostly individuals with ASD, while ADHD symptoms were lowest in the group with the greatest proportion of TD participants. En ligne : http://dx.doi.org/10.1002/aur.2399 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=443
in Autism Research > 14-3 (March 2021) . - p.500-511[article] Using the NIH Toolbox to Assess Cognition in Adolescents and Young Adults with Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Marjorie SOLOMON, Auteur ; Andrew GORDON, Auteur ; Ana-Maria IOSIF, Auteur ; Raphael GEDDERT, Auteur ; Marie K. KRUG, Auteur ; Peter C. MUNDY, Auteur ; David HESSL, Auteur . - p.500-511.
Langues : Anglais (eng)
in Autism Research > 14-3 (March 2021) . - p.500-511
Mots-clés : NIH Toolbox adolescents adults cognitive control executive control executive functions latent profile analysis phenotypes subtypes of ASD young adults Index. décimale : PER Périodiques Résumé : Despite the clinically significant impact of executive dysfunction on the outcomes of adolescents and young adults with autism spectrum disorders (ASD), we lack a clear understanding of its prevalence, profile, and development. To address this gap, we administered the NIH Toolbox Cognition Battery to a cross-sectional Intelligence Quotient (IQ) case-matched cohort with ASD (n = 66) and typical development (TD; n = 66) ages 12-22. We used a general linear model framework to examine group differences in task performance and their associations with age. Latent profile analysis (LPA) was used to identify subgroups of individuals with similar cognitive profiles. Compared to IQ case-matched controls, ASD demonstrated poorer performance on inhibitory control (P?0.001), cognitive flexibility (P?0.001), episodic memory (P?0.02), and processing speed (P?0.001) (components of Fluid Cognition), but not on vocabulary or word reading (components of Crystallized Cognition). There was a significant positive association between age and Crystallized and Fluid Cognition in both groups. For Fluid (but not Crystallized) Cognition, ASD performed more poorly than TD at all ages. A four-group LPA model based on subtest scores best fit the data. Eighty percent of ASD belonged to two groups that exhibited relatively stronger Crystallized versus Fluid Cognition. Attention deficits were not associated with Toolbox subtest scores, but were lowest in the group with the lowest proportion of autistic participants. Adaptive functioning was poorer in the groups with the greatest proportion of autistic participants. Autistic persons are especially impaired on Fluid Cognition, and this more flexible form of thinking remains poorer in the ASD group through adolescence. LAY SUMMARY: A set of brief tests of cognitive functioning called the NIH Toolbox Cognition Battery was administered to adolescents and young adults with autism spectrum disorders (ASD; n =?66) and typical development (TD; n =?66) ages 12-22?years. Compared to TD, ASD showed poorer performance in inhibiting responses, acting flexibly, memorizing events, and processing information quickly (Fluid Cognition). Groups did not differ on vocabulary or word reading (Crystallized Cognition). Crystallized and Fluid Cognition increased with age in both groups, but the ASD group showed lower Fluid, but not Crystallized, Cognition than TD at all ages. A categorization analysis including all participants showed that most participants with ASD fell into one of two categories: a group characterized by poor performance across all tasks, or a group characterized by relatively stronger Crystallized compared to Fluid Cognition. Adaptive functioning was poorer for participants in these groups, which consisted of mostly individuals with ASD, while ADHD symptoms were lowest in the group with the greatest proportion of TD participants. En ligne : http://dx.doi.org/10.1002/aur.2399 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=443