Assessing the utility of electronic measures as a proxy for cognitive ability / Tess LEVY in Autism Research, 15-6 (June 2022)  

Public ISBD [article]  inAutism Research > 15-6 (June 2022) . - p.988-995 Titre : Assessing the utility of electronic measures as a proxy for cognitive ability Type de document : Texte imprimé et/ou numérique Auteurs : Tess LEVY, Auteur ; Bari BRITVAN, Auteur ; Hannah GROSMAN, Auteur ; Ivy GISERMAN-KISS, Auteur ; Kristin MEYERING, Auteur ; Jordana WEISSMAN, Auteur ; Danielle B. HALPERN, Auteur ; Jessica ZWEIFACH, Auteur ; M. Pilar TRELLES, Auteur ; Jennifer H. FOSS-FEIG, Auteur ; Alexander KOLEVZON, Auteur ; Stephan J. SANDERS, Auteur ; Elise B. ROBINSON, Auteur ; Joseph D. BUXBAUM, Auteur ; Somer BISHOP, Auteur ; Paige M. SIPER, Auteur Article en page(s) : p.988-995 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Abstract Large-scale genomic studies have identified over 100 genes associated with autism spectrum disorder (ASD); however, important phenotypic variables are captured inconsistently. In many cases, the resources required for comprehensive characterization hinder the feasibility of collecting critical information, such as intellectual ability. Thus, electronic collection of important phenotypes would greatly facilitate large-scale data collection efforts. This study assessed the utility of two electronic assessments as a proxy of cognitive ability relative to clinician-administered cognitive assessments. Ninety-two participants completed the study, including individuals with ASD (probands, n = 19), parents of probands (n = 46), and siblings without ASD (n = 27). Participants were administered the electronic-Peabody Picture Vocabulary Test, Fourth Edition (e-PPVT-4), an electronic visual reasoning (VR) test, and a clinician-administered Wechsler Abbreviated Scales of Intelligence, Second Edition (WASI-II). Probands also completed a full, in-person, cognitive assessment and Vineland Adaptive Behavior Scales, 2nd Edition. Correlations between scores on electronic and clinician-administered measures were examined. Classification accuracy of individual scores based on 95% confidence intervals and score range (below average, average, above average) were also assessed. Moderate to strong correlations were identified between both electronic measures and the clinician-administered WASI-II (? = 0.606?0.712). Mean difference between standard scores ranged from 10.7 to 14.8 for the cohort. Classification accuracy based on WASI-II 95% confidence interval was consistently low (27.5%?47.3%). Classification accuracy by score range (below average, average, above average) was variable, ranging from 33% to 86% for probands. All participants unable to complete the electronic assessments met DSM-5 criteria for intellectual disability. e-PPVT-4 and VR scores were strongly correlated with scores on the WASI-II full-scale IQ (? = 0.630, 0.712), indicating utility of these measures at the group level in large-scale genomic studies. However, the poor precision of measurement across both measures suggests that the e-PPVT-4 and VR are not useful alternatives to in-person testing for the purpose of clinical assessment of an individual's IQ score. Lay Summary Large-scale studies designed to identify genes associated with autism have been successful in identifying over 100 genes. However, important clinical information about participants with autism and their family members is often missed?including cognitive functioning. Cognitive testing requires in-person administration by a trained clinician and therefore can be burdensome and often reduces feasibility of diverse samples. Here, we assessed whether electronic assessments could take the place of in-person cognitive testing. We found that at the group level, for large-scale studies, electronic measures added valuable information; however, they were not accurate enough to be used on an individual level (i.e., to offer feedback about an individual's predicted IQ score). En ligne : https://doi.org/10.1002/aur.2704 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=476 [article] Assessing the utility of electronic measures as a proxy for cognitive ability [Texte imprimé et/ou numérique] / Tess LEVY, Auteur ; Bari BRITVAN, Auteur ; Hannah GROSMAN, Auteur ; Ivy GISERMAN-KISS, Auteur ; Kristin MEYERING, Auteur ; Jordana WEISSMAN, Auteur ; Danielle B. HALPERN, Auteur ; Jessica ZWEIFACH, Auteur ; M. Pilar TRELLES, Auteur ; Jennifer H. FOSS-FEIG, Auteur ; Alexander KOLEVZON, Auteur ; Stephan J. SANDERS, Auteur ; Elise B. ROBINSON, Auteur ; Joseph D. BUXBAUM, Auteur ; Somer BISHOP, Auteur ; Paige M. SIPER, Auteur . - p.988-995. Langues : Anglais (eng) in Autism Research > 15-6 (June 2022) . - p.988-995 Index. décimale : PER Périodiques Résumé : Abstract Large-scale genomic studies have identified over 100 genes associated with autism spectrum disorder (ASD); however, important phenotypic variables are captured inconsistently. In many cases, the resources required for comprehensive characterization hinder the feasibility of collecting critical information, such as intellectual ability. Thus, electronic collection of important phenotypes would greatly facilitate large-scale data collection efforts. This study assessed the utility of two electronic assessments as a proxy of cognitive ability relative to clinician-administered cognitive assessments. Ninety-two participants completed the study, including individuals with ASD (probands, n = 19), parents of probands (n = 46), and siblings without ASD (n = 27). Participants were administered the electronic-Peabody Picture Vocabulary Test, Fourth Edition (e-PPVT-4), an electronic visual reasoning (VR) test, and a clinician-administered Wechsler Abbreviated Scales of Intelligence, Second Edition (WASI-II). Probands also completed a full, in-person, cognitive assessment and Vineland Adaptive Behavior Scales, 2nd Edition. Correlations between scores on electronic and clinician-administered measures were examined. Classification accuracy of individual scores based on 95% confidence intervals and score range (below average, average, above average) were also assessed. Moderate to strong correlations were identified between both electronic measures and the clinician-administered WASI-II (? = 0.606?0.712). Mean difference between standard scores ranged from 10.7 to 14.8 for the cohort. Classification accuracy based on WASI-II 95% confidence interval was consistently low (27.5%?47.3%). Classification accuracy by score range (below average, average, above average) was variable, ranging from 33% to 86% for probands. All participants unable to complete the electronic assessments met DSM-5 criteria for intellectual disability. e-PPVT-4 and VR scores were strongly correlated with scores on the WASI-II full-scale IQ (? = 0.630, 0.712), indicating utility of these measures at the group level in large-scale genomic studies. However, the poor precision of measurement across both measures suggests that the e-PPVT-4 and VR are not useful alternatives to in-person testing for the purpose of clinical assessment of an individual's IQ score. Lay Summary Large-scale studies designed to identify genes associated with autism have been successful in identifying over 100 genes. However, important clinical information about participants with autism and their family members is often missed?including cognitive functioning. Cognitive testing requires in-person administration by a trained clinician and therefore can be burdensome and often reduces feasibility of diverse samples. Here, we assessed whether electronic assessments could take the place of in-person cognitive testing. We found that at the group level, for large-scale studies, electronic measures added valuable information; however, they were not accurate enough to be used on an individual level (i.e., to offer feedback about an individual's predicted IQ score). En ligne : https://doi.org/10.1002/aur.2704 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=476

Brief Report: No Association Between Parental Age and Extreme Social-Communicative Autistic Traits in the General Population / Elise B. ROBINSON in Journal of Autism and Developmental Disorders, 41-12 (December 2011)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 41-12 (December 2011) . - p.1733-1737 Titre : Brief Report: No Association Between Parental Age and Extreme Social-Communicative Autistic Traits in the General Population Type de document : Texte imprimé et/ou numérique Auteurs : Elise B. ROBINSON, Auteur ; Kerim M. MUNIR, Auteur ; Marie C. MCCORMICK, Auteur ; Karestan C. KOENEN, Auteur ; Susan L. SANTANGELO, Auteur Année de publication : 2011 Article en page(s) : p.1733-1737 Langues : Anglais (eng) Mots-clés : Autism spectrum disorders  Autistic traits  Parental age  ALSPAC Index. décimale : PER Périodiques Résumé : This is the first investigation of the relationship between parental age and extreme social-communicative autistic traits in the general population. The parents of 5,246 children in the Avon Longitudinal Study of Parents and Children (ALSPAC) completed the Social and Communication Disorders Checklist (SCDC). The association between parental age and SCDC scores was assessed in the full sample and among high scoring individuals (e.g. top 5%, 1%). There was no association between parental age and social-communicative autistic traits in the general population. Neither maternal nor paternal age was associated with extreme scores. These findings suggest that advanced parental age does not confer increased risk for extreme social and communication impairment assessed quantitatively. En ligne : http://dx.doi.org/10.1007/s10803-011-1202-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=148 [article] Brief Report: No Association Between Parental Age and Extreme Social-Communicative Autistic Traits in the General Population [Texte imprimé et/ou numérique] / Elise B. ROBINSON, Auteur ; Kerim M. MUNIR, Auteur ; Marie C. MCCORMICK, Auteur ; Karestan C. KOENEN, Auteur ; Susan L. SANTANGELO, Auteur . - 2011 . - p.1733-1737. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 41-12 (December 2011) . - p.1733-1737 Mots-clés : Autism spectrum disorders  Autistic traits  Parental age  ALSPAC Index. décimale : PER Périodiques Résumé : This is the first investigation of the relationship between parental age and extreme social-communicative autistic traits in the general population. The parents of 5,246 children in the Avon Longitudinal Study of Parents and Children (ALSPAC) completed the Social and Communication Disorders Checklist (SCDC). The association between parental age and SCDC scores was assessed in the full sample and among high scoring individuals (e.g. top 5%, 1%). There was no association between parental age and social-communicative autistic traits in the general population. Neither maternal nor paternal age was associated with extreme scores. These findings suggest that advanced parental age does not confer increased risk for extreme social and communication impairment assessed quantitatively. En ligne : http://dx.doi.org/10.1007/s10803-011-1202-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=148

Bringing a developmental perspective to anxiety genetics / Lauren M. MCGRATH in Development and Psychopathology, 24-4 (November 2012)  

Public ISBD [article]  inDevelopment and Psychopathology > 24-4 (November 2012) . - p.1179-1193 Titre : Bringing a developmental perspective to anxiety genetics Type de document : Texte imprimé et/ou numérique Auteurs : Lauren M. MCGRATH, Auteur ; Sydney WEILL, Auteur ; Elise B. ROBINSON, Auteur ; Rebecca MACRAE, Auteur ; Jordan W. SMOLLER, Auteur Année de publication : 2012 Article en page(s) : p.1179-1193 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Despite substantial recent advancements in psychiatric genetic research, progress in identifying the genetic basis of anxiety disorders has been limited. We review the candidate gene and genome-wide literatures in anxiety, which have made limited progress to date. We discuss several reasons for this hindered progress, including small samples sizes, heterogeneity, complicated comorbidity profiles, and blurred lines between normative and pathological anxiety. To address many of these challenges, we suggest a developmental, multivariate framework that can inform and enhance anxiety phenotypes for genetic research. We review the psychiatric and genetic epidemiological evidence that supports such a framework, including the early onset and chronic course of anxiety disorders, shared genetic risk factors among disorders both within and across time, and developmentally dynamic genetic influences. We propose three strategies for developmentally sensitive phenotyping: examination of early temperamental risk factors, use of latent factors to model underlying anxiety liability, and use of developmental trajectories as phenotypes. Expanding the range of phenotypic approaches will be important for advancing studies of the genetic architecture of anxiety disorders. En ligne : http://dx.doi.org/10.1017/S0954579412000636 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=182 [article] Bringing a developmental perspective to anxiety genetics [Texte imprimé et/ou numérique] / Lauren M. MCGRATH, Auteur ; Sydney WEILL, Auteur ; Elise B. ROBINSON, Auteur ; Rebecca MACRAE, Auteur ; Jordan W. SMOLLER, Auteur . - 2012 . - p.1179-1193. Langues : Anglais (eng) in Development and Psychopathology > 24-4 (November 2012) . - p.1179-1193 Index. décimale : PER Périodiques Résumé : Despite substantial recent advancements in psychiatric genetic research, progress in identifying the genetic basis of anxiety disorders has been limited. We review the candidate gene and genome-wide literatures in anxiety, which have made limited progress to date. We discuss several reasons for this hindered progress, including small samples sizes, heterogeneity, complicated comorbidity profiles, and blurred lines between normative and pathological anxiety. To address many of these challenges, we suggest a developmental, multivariate framework that can inform and enhance anxiety phenotypes for genetic research. We review the psychiatric and genetic epidemiological evidence that supports such a framework, including the early onset and chronic course of anxiety disorders, shared genetic risk factors among disorders both within and across time, and developmentally dynamic genetic influences. We propose three strategies for developmentally sensitive phenotyping: examination of early temperamental risk factors, use of latent factors to model underlying anxiety liability, and use of developmental trajectories as phenotypes. Expanding the range of phenotypic approaches will be important for advancing studies of the genetic architecture of anxiety disorders. En ligne : http://dx.doi.org/10.1017/S0954579412000636 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=182

A longitudinal twin study of the association between childhood autistic traits and psychotic experiences in adolescence / Mark J. TAYLOR in Molecular Autism, (July 2015)  

Public ISBD [article]  inMolecular Autism > (July 2015) . - p.1-11 Titre : A longitudinal twin study of the association between childhood autistic traits and psychotic experiences in adolescence Type de document : Texte imprimé et/ou numérique Auteurs : Mark J. TAYLOR, Auteur ; Elise B. ROBINSON, Auteur ; Francesca HAPPE, Auteur ; Patrick BOLTON, Auteur ; Daniel FREEMAN, Auteur ; Angelica RONALD, Auteur Article en page(s) : p.1-11 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : This twin study investigated whether autistic traits during childhood were associated with adolescent psychotic experiences. En ligne : http://dx.doi.org/10.1186/s13229-015-0037-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277 [article] A longitudinal twin study of the association between childhood autistic traits and psychotic experiences in adolescence [Texte imprimé et/ou numérique] / Mark J. TAYLOR, Auteur ; Elise B. ROBINSON, Auteur ; Francesca HAPPE, Auteur ; Patrick BOLTON, Auteur ; Daniel FREEMAN, Auteur ; Angelica RONALD, Auteur . - p.1-11. Langues : Anglais (eng) in Molecular Autism > (July 2015) . - p.1-11 Index. décimale : PER Périodiques Résumé : This twin study investigated whether autistic traits during childhood were associated with adolescent psychotic experiences. En ligne : http://dx.doi.org/10.1186/s13229-015-0037-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277

Phenotypic and ancestry-related assortative mating in autism / Jing ZHANG in Molecular Autism, 15 (2024)  

Public ISBD [article]  inMolecular Autism > 15 (2024) . - 27p. Titre : Phenotypic and ancestry-related assortative mating in autism Type de document : Texte imprimé et/ou numérique Auteurs : Jing ZHANG, Auteur ; J. Dylan WEISSENKAMPEN, Auteur ; Rachel L. KEMBER, Auteur ; iPSYCH CONSORTIUM, Auteur ; Jakob GROVE, Auteur ; Anders D. BØRGLUM, Auteur ; Elise B. ROBINSON, Auteur ; Edward S. BRODKIN, Auteur ; Laura ALMASY, Auteur ; Maja BUCAN, Auteur ; Ronnie SEBRO, Auteur Article en page(s) : 27p. Langues : Anglais (eng) Mots-clés : Humans  Autistic Disorder/genetics  Phenotype  Male  Female  Linkage Disequilibrium  Multifactorial Inheritance  Child  Genetic Predisposition to Disease  Polymorphism, Single Nucleotide  Adult  Intellectual Disability/genetics  Assortative mating  Autism  Genetic ancestry  Intellectual disability  Linkage disequilibrium  Polygenic scores Index. décimale : PER Périodiques Résumé : BACKGROUND: Positive assortative mating (AM) in several neuropsychiatric traits, including autism, has been noted. However, it is unknown whether the pattern of AM is different in phenotypically defined autism subgroups [e.g., autism with and without intellectually disability (ID)]. It is also unclear what proportion of the phenotypic AM can be explained by the genetic similarity between parents of children with an autism diagnosis, and the consequences of AM on the genetic structure of the population. METHODS: To address these questions, we analyzed two family-based autism collections: the Simons Foundation Powering Autism Research for Knowledge (SPARK) (1575 families) and the Simons Simplex Collection (SSC) (2283 families). RESULTS: We found a similar degree of phenotypic and ancestry-related AM in parents of children with an autism diagnosis regardless of the presence of ID. We did not find evidence of AM for autism based on autism polygenic scores (PGS) (at a threshold of |r|>?0.1). The adjustment of ancestry-related AM or autism PGS accounted for only 0.3-4% of the fractional change in the estimate of the phenotypic AM. The ancestry-related AM introduced higher long-range linkage disequilibrium (LD) between single nucleotide polymorphisms (SNPs) on different chromosomes that are highly ancestry-informative compared to SNPs that are less ancestry-informative (D(2) on the order of 1?*?10(-5)). LIMITATIONS: We only analyzed participants of European ancestry, limiting the generalizability of our results to individuals of non-European ancestry. SPARK and SSC were both multicenter studies. Therefore, there could be ancestry-related AM in SPARK and SSC due to geographic stratification. The study participants from each site were unknown, so we were unable to evaluate for geographic stratification. CONCLUSIONS: This study showed similar patterns of AM in autism with and without ID, and demonstrated that the common genetic influences of autism are likely relevant to both autism groups. The adjustment of ancestry-related AM and autism PGS accounted for En ligne : https://dx.doi.org/10.1186/s13229-024-00605-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=538 [article] Phenotypic and ancestry-related assortative mating in autism [Texte imprimé et/ou numérique] / Jing ZHANG, Auteur ; J. Dylan WEISSENKAMPEN, Auteur ; Rachel L. KEMBER, Auteur ; iPSYCH CONSORTIUM, Auteur ; Jakob GROVE, Auteur ; Anders D. BØRGLUM, Auteur ; Elise B. ROBINSON, Auteur ; Edward S. BRODKIN, Auteur ; Laura ALMASY, Auteur ; Maja BUCAN, Auteur ; Ronnie SEBRO, Auteur . - 27p. Langues : Anglais (eng) in Molecular Autism > 15 (2024) . - 27p. Mots-clés : Humans  Autistic Disorder/genetics  Phenotype  Male  Female  Linkage Disequilibrium  Multifactorial Inheritance  Child  Genetic Predisposition to Disease  Polymorphism, Single Nucleotide  Adult  Intellectual Disability/genetics  Assortative mating  Autism  Genetic ancestry  Intellectual disability  Linkage disequilibrium  Polygenic scores Index. décimale : PER Périodiques Résumé : BACKGROUND: Positive assortative mating (AM) in several neuropsychiatric traits, including autism, has been noted. However, it is unknown whether the pattern of AM is different in phenotypically defined autism subgroups [e.g., autism with and without intellectually disability (ID)]. It is also unclear what proportion of the phenotypic AM can be explained by the genetic similarity between parents of children with an autism diagnosis, and the consequences of AM on the genetic structure of the population. METHODS: To address these questions, we analyzed two family-based autism collections: the Simons Foundation Powering Autism Research for Knowledge (SPARK) (1575 families) and the Simons Simplex Collection (SSC) (2283 families). RESULTS: We found a similar degree of phenotypic and ancestry-related AM in parents of children with an autism diagnosis regardless of the presence of ID. We did not find evidence of AM for autism based on autism polygenic scores (PGS) (at a threshold of |r|>?0.1). The adjustment of ancestry-related AM or autism PGS accounted for only 0.3-4% of the fractional change in the estimate of the phenotypic AM. The ancestry-related AM introduced higher long-range linkage disequilibrium (LD) between single nucleotide polymorphisms (SNPs) on different chromosomes that are highly ancestry-informative compared to SNPs that are less ancestry-informative (D(2) on the order of 1?*?10(-5)). LIMITATIONS: We only analyzed participants of European ancestry, limiting the generalizability of our results to individuals of non-European ancestry. SPARK and SSC were both multicenter studies. Therefore, there could be ancestry-related AM in SPARK and SSC due to geographic stratification. The study participants from each site were unknown, so we were unable to evaluate for geographic stratification. CONCLUSIONS: This study showed similar patterns of AM in autism with and without ID, and demonstrated that the common genetic influences of autism are likely relevant to both autism groups. The adjustment of ancestry-related AM and autism PGS accounted for En ligne : https://dx.doi.org/10.1186/s13229-024-00605-5 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=538

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