Agreement of parent-reported cognitive level with standardized measures among children with autism spectrum disorder / Chimei M. LEE in Autism Research, 16-6 (June 2023)  

Public ISBD [article]  inAutism Research > 16-6 (June 2023) . - p.1210-1224 Titre : Agreement of parent-reported cognitive level with standardized measures among children with autism spectrum disorder Type de document : Texte imprimé et/ou numérique Auteurs : Chimei M. LEE, Auteur ; LeeAnne GREEN SNYDER, Auteur ; Laura A. CARPENTER, Auteur ; Jill HARRIS, Auteur ; Stephen KANNE, Auteur ; Cora M. TAYLOR, Auteur ; Dustin E. SARVER, Auteur ; Kevin G. STEPHENSON, Auteur ; Lisa H. SHULMAN, Auteur ; Ericka L. WODKA, Auteur ; Amy ESLER, Auteur ; Spark consortium THE, Auteur Article en page(s) : p.1210-1224 Langues : Anglais (eng) Mots-clés : autism spectrum disorder  cognitive ability  intellectual disability  parent report  standardized measure Index. décimale : PER Périodiques Résumé : Abstract Assessing cognitive development is critical in clinical research of autism spectrum disorder (ASD). However, collecting cognitive data from clinically administered assessments can add a significant burden to clinical research in ASD due to the substantial cost and time required, and it is often prohibitive in large-scale studies. There is a need for more efficient, but reliable, methods to estimate cognitive functioning for researchers, clinicians, and families. To examine the degree to which caregiver estimates of cognitive level agree with actual measured intelligence/developmental scores and understand factors that may impact that agreement, 1,555 autistic individuals (81.74% male; age 18?months?18?years) were selected from a large cohort (Simons Foundation Powering Autism Research for Knowledge, SPARK). Results suggest that querying parents about recent testing results and developmental diagnoses can provide valid and useful information on cognitive ability. The agreement of parental estimates varied with age, measured cognitive ability, autistic traits, and adaptive skills. In the context of large-scale research efforts, parent-reported cognitive impairment may be a good proxy for categorical IQ range for survey-based studies when specific IQ scores are not available, circumventing the logistical and financial obstacles of obtaining neuropsychological or neurodevelopmental testing. En ligne : https://doi.org/10.1002/aur.2934 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=507 [article] Agreement of parent-reported cognitive level with standardized measures among children with autism spectrum disorder [Texte imprimé et/ou numérique] / Chimei M. LEE, Auteur ; LeeAnne GREEN SNYDER, Auteur ; Laura A. CARPENTER, Auteur ; Jill HARRIS, Auteur ; Stephen KANNE, Auteur ; Cora M. TAYLOR, Auteur ; Dustin E. SARVER, Auteur ; Kevin G. STEPHENSON, Auteur ; Lisa H. SHULMAN, Auteur ; Ericka L. WODKA, Auteur ; Amy ESLER, Auteur ; Spark consortium THE, Auteur . - p.1210-1224. Langues : Anglais (eng) in Autism Research > 16-6 (June 2023) . - p.1210-1224 Mots-clés : autism spectrum disorder  cognitive ability  intellectual disability  parent report  standardized measure Index. décimale : PER Périodiques Résumé : Abstract Assessing cognitive development is critical in clinical research of autism spectrum disorder (ASD). However, collecting cognitive data from clinically administered assessments can add a significant burden to clinical research in ASD due to the substantial cost and time required, and it is often prohibitive in large-scale studies. There is a need for more efficient, but reliable, methods to estimate cognitive functioning for researchers, clinicians, and families. To examine the degree to which caregiver estimates of cognitive level agree with actual measured intelligence/developmental scores and understand factors that may impact that agreement, 1,555 autistic individuals (81.74% male; age 18?months?18?years) were selected from a large cohort (Simons Foundation Powering Autism Research for Knowledge, SPARK). Results suggest that querying parents about recent testing results and developmental diagnoses can provide valid and useful information on cognitive ability. The agreement of parental estimates varied with age, measured cognitive ability, autistic traits, and adaptive skills. In the context of large-scale research efforts, parent-reported cognitive impairment may be a good proxy for categorical IQ range for survey-based studies when specific IQ scores are not available, circumventing the logistical and financial obstacles of obtaining neuropsychological or neurodevelopmental testing. En ligne : https://doi.org/10.1002/aur.2934 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=507

Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication / LeeAnne GREEN SNYDER in Journal of Autism and Developmental Disorders, 46-8 (August 2016)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 46-8 (August 2016) . - p.2734-2748 Titre : Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication Type de document : Texte imprimé et/ou numérique Auteurs : LeeAnne GREEN SNYDER, Auteur ; Debra D’ANGELO, Auteur ; Qixuan CHEN, Auteur ; Raphael BERNIER, Auteur ; Robin P. GOIN-KOCHEL, Auteur ; Arianne S. WALLACE, Auteur ; Jennifer GERDTS, Auteur ; Stephen M. KANNE, Auteur ; Leandra N. BERRY, Auteur ; Lisa BLASKEY, Auteur ; Emily KUSCHNER, Auteur ; Timothy ROBERTS, Auteur ; Elliot SHERR, Auteur ; Christa L. MARTIN, Auteur ; David H. LEDBETTER, Auteur ; John E. SPIRO, Auteur ; Wendy K. CHUNG, Auteur ; Ellen HANSON, Auteur Article en page(s) : p.2734-2748 Langues : Anglais (eng) Mots-clés : 16p11.2 duplication  Genetics  Neuropsychological  Autism  Intellectual disability  Cognitive Index. décimale : PER Périodiques Résumé : The 16p11.2 duplication (BP4–BP5) is associated with Autism Spectrum Disorder (ASD), although significant heterogeneity exists. Quantitative ASD, behavioral and neuropsychological measures and DSM-IV diagnoses in child and adult carriers were compared with familial non-carrier controls, and to published results from deletion carriers. The 16p11.2 duplication phenotype ranges widely from asymptomatic presentation to significant disability. The most common diagnoses were intellectual disability, motor delays and Attention Deficit Hyperactivity Disorder in children, and anxiety in adults. ASD occurred in nearly 20 % of child cases, but a majority of carriers did not show the unique social features of ASD. The 16p11.2 duplication phenotype is characterized by wider variability than the reciprocal deletion, likely reflecting contributions from additional risk factors. En ligne : http://dx.doi.org/10.1007/s10803-016-2807-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=291 [article] Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication [Texte imprimé et/ou numérique] / LeeAnne GREEN SNYDER, Auteur ; Debra D’ANGELO, Auteur ; Qixuan CHEN, Auteur ; Raphael BERNIER, Auteur ; Robin P. GOIN-KOCHEL, Auteur ; Arianne S. WALLACE, Auteur ; Jennifer GERDTS, Auteur ; Stephen M. KANNE, Auteur ; Leandra N. BERRY, Auteur ; Lisa BLASKEY, Auteur ; Emily KUSCHNER, Auteur ; Timothy ROBERTS, Auteur ; Elliot SHERR, Auteur ; Christa L. MARTIN, Auteur ; David H. LEDBETTER, Auteur ; John E. SPIRO, Auteur ; Wendy K. CHUNG, Auteur ; Ellen HANSON, Auteur . - p.2734-2748. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 46-8 (August 2016) . - p.2734-2748 Mots-clés : 16p11.2 duplication  Genetics  Neuropsychological  Autism  Intellectual disability  Cognitive Index. décimale : PER Périodiques Résumé : The 16p11.2 duplication (BP4–BP5) is associated with Autism Spectrum Disorder (ASD), although significant heterogeneity exists. Quantitative ASD, behavioral and neuropsychological measures and DSM-IV diagnoses in child and adult carriers were compared with familial non-carrier controls, and to published results from deletion carriers. The 16p11.2 duplication phenotype ranges widely from asymptomatic presentation to significant disability. The most common diagnoses were intellectual disability, motor delays and Attention Deficit Hyperactivity Disorder in children, and anxiety in adults. ASD occurred in nearly 20 % of child cases, but a majority of carriers did not show the unique social features of ASD. The 16p11.2 duplication phenotype is characterized by wider variability than the reciprocal deletion, likely reflecting contributions from additional risk factors. En ligne : http://dx.doi.org/10.1007/s10803-016-2807-4 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=291

Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers / Caitlin M. HUDAC in Autism Research, 13-8 (August 2020)  

Public ISBD [article]  inAutism Research > 13-8 (August 2020) . - p.1300-1310 Titre : Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers Type de document : Texte imprimé et/ou numérique Auteurs : Caitlin M. HUDAC, Auteur ; Joanna BOVE, Auteur ; Shelley BARBER, Auteur ; Michael DUYZEND, Auteur ; Ari WALLACE, Auteur ; Christa Lese MARTIN, Auteur ; David H. LEDBETTER, Auteur ; Ellen HANSON, Auteur ; Robin P GOIN-KOCHEL, Auteur ; LeeAnne GREEN SNYDER, Auteur ; Wendy K. CHUNG, Auteur ; Evan E. EICHLER, Auteur ; Raphael BERNIER, Auteur Article en page(s) : p.1300-1310 Langues : Anglais (eng) Mots-clés : 16p11.2 deletion  16p11.2 duplication  adaptive functioning  autism spectrum disorder  cognitive functioning  individual variability/heterogeneity Index. décimale : PER Périodiques Résumé : Individuals with 16p11.2 copy number variant (CNV) show considerable phenotypic heterogeneity. Although autism spectrum disorder (ASD) is reported in approximately 20-23% of individuals with 16p11.2 CNVs, ASD-associated symptoms are observed in those without a clinical ASD diagnosis. Previous work has shown that genetic variation and prenatal and perinatal birth complications influence ASD risk and symptom severity. This study examined the impact of genetic and environmental risk factors on phenotypic heterogeneity among 16p11.2 CNV carriers. Participants included individuals with a 16p11.2 deletion (N = 96) or duplication (N = 77) with exome sequencing from the Simons VIP study. The presence of prenatal factors, perinatal events, additional genetic events, and gender was studied. Regression analyses examined the contribution of each risk factor on ASD symptomatology, cognitive functioning, and adaptive abilities. For deletion carriers, perinatal and additional genetic events were associated with increased ASD symptomatology and decrements in cognitive and adaptive functioning. For duplication carriers, secondary genetic events were associated with greater cognitive impairments. Being female sex was a protective factor for both deletion and duplication carriers. Our findings suggest that ASD-associated risk factors contribute to the variability in symptom presentation in individuals with 16p11.2 CNVs. LAY SUMMARY: There are a wide range of autism spectrum disorder (ASD) symptoms and abilities observed for individuals with genetic changes of the 16p11.2 region. Here, we found perinatal complications contributed to more severe ASD symptoms (deletion carriers) and additional genetic mutations contributed to decreased cognitive abilities (deletion and duplication carriers). A potential protective factor was also observed for females with 16p11.2 variations. Autism Res 2020, 13: 1300-1310. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.2332 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=430 [article] Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers [Texte imprimé et/ou numérique] / Caitlin M. HUDAC, Auteur ; Joanna BOVE, Auteur ; Shelley BARBER, Auteur ; Michael DUYZEND, Auteur ; Ari WALLACE, Auteur ; Christa Lese MARTIN, Auteur ; David H. LEDBETTER, Auteur ; Ellen HANSON, Auteur ; Robin P GOIN-KOCHEL, Auteur ; LeeAnne GREEN SNYDER, Auteur ; Wendy K. CHUNG, Auteur ; Evan E. EICHLER, Auteur ; Raphael BERNIER, Auteur . - p.1300-1310. Langues : Anglais (eng) in Autism Research > 13-8 (August 2020) . - p.1300-1310 Mots-clés : 16p11.2 deletion  16p11.2 duplication  adaptive functioning  autism spectrum disorder  cognitive functioning  individual variability/heterogeneity Index. décimale : PER Périodiques Résumé : Individuals with 16p11.2 copy number variant (CNV) show considerable phenotypic heterogeneity. Although autism spectrum disorder (ASD) is reported in approximately 20-23% of individuals with 16p11.2 CNVs, ASD-associated symptoms are observed in those without a clinical ASD diagnosis. Previous work has shown that genetic variation and prenatal and perinatal birth complications influence ASD risk and symptom severity. This study examined the impact of genetic and environmental risk factors on phenotypic heterogeneity among 16p11.2 CNV carriers. Participants included individuals with a 16p11.2 deletion (N = 96) or duplication (N = 77) with exome sequencing from the Simons VIP study. The presence of prenatal factors, perinatal events, additional genetic events, and gender was studied. Regression analyses examined the contribution of each risk factor on ASD symptomatology, cognitive functioning, and adaptive abilities. For deletion carriers, perinatal and additional genetic events were associated with increased ASD symptomatology and decrements in cognitive and adaptive functioning. For duplication carriers, secondary genetic events were associated with greater cognitive impairments. Being female sex was a protective factor for both deletion and duplication carriers. Our findings suggest that ASD-associated risk factors contribute to the variability in symptom presentation in individuals with 16p11.2 CNVs. LAY SUMMARY: There are a wide range of autism spectrum disorder (ASD) symptoms and abilities observed for individuals with genetic changes of the 16p11.2 region. Here, we found perinatal complications contributed to more severe ASD symptoms (deletion carriers) and additional genetic mutations contributed to decreased cognitive abilities (deletion and duplication carriers). A potential protective factor was also observed for females with 16p11.2 variations. Autism Res 2020, 13: 1300-1310. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.2332 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=430

Expression of the Broad Autism Phenotype in Simplex Autism Families from the Simons Simplex Collection / Julie DAVIDSON in Journal of Autism and Developmental Disorders, 44-10 (October 2014)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 44-10 (October 2014) . - p.2392-2399 Titre : Expression of the Broad Autism Phenotype in Simplex Autism Families from the Simons Simplex Collection Type de document : Texte imprimé et/ou numérique Auteurs : Julie DAVIDSON, Auteur ; Robin P. GOIN-KOCHEL, Auteur ; LeeAnne GREEN SNYDER, Auteur ; Rachel J. HUNDLEY, Auteur ; Zachary WARREN, Auteur ; Sarika U. PETERS, Auteur Article en page(s) : p.2392-2399 Langues : Anglais (eng) Mots-clés : Autism  Broad autism phenotype Index. décimale : PER Périodiques Résumé : The broad autism phenotype (BAP) refers to the phenotypic expression of an underlying genetic liability to autism, manifest in non-autistic relatives. This study examined the relationship among the Broad Autism Phenotype Questionnaire (BAPQ), Social Responsiveness Scale: Adult Research Version (SRS:ARV), and Family History Interview (FHI) in a large, multi-site study of 1,650 simplex families (Simons Simplex Collection). Correlations between the BAPQ and SRS:ARV Total scores were moderate, and correlations between FHI ratings and SRS:ARV and BAPQ were significant but weak. Overall, the results suggested that BAP traits occur at low rates in simplex families, and rates vary significantly depending upon the measure utilized. Implications include the need for multiple informants, and the assessment of distinct BAP traits in large-scale genetic studies of individuals with ASD. En ligne : http://dx.doi.org/10.1007/s10803-012-1492-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=240 [article] Expression of the Broad Autism Phenotype in Simplex Autism Families from the Simons Simplex Collection [Texte imprimé et/ou numérique] / Julie DAVIDSON, Auteur ; Robin P. GOIN-KOCHEL, Auteur ; LeeAnne GREEN SNYDER, Auteur ; Rachel J. HUNDLEY, Auteur ; Zachary WARREN, Auteur ; Sarika U. PETERS, Auteur . - p.2392-2399. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 44-10 (October 2014) . - p.2392-2399 Mots-clés : Autism  Broad autism phenotype Index. décimale : PER Périodiques Résumé : The broad autism phenotype (BAP) refers to the phenotypic expression of an underlying genetic liability to autism, manifest in non-autistic relatives. This study examined the relationship among the Broad Autism Phenotype Questionnaire (BAPQ), Social Responsiveness Scale: Adult Research Version (SRS:ARV), and Family History Interview (FHI) in a large, multi-site study of 1,650 simplex families (Simons Simplex Collection). Correlations between the BAPQ and SRS:ARV Total scores were moderate, and correlations between FHI ratings and SRS:ARV and BAPQ were significant but weak. Overall, the results suggested that BAP traits occur at low rates in simplex families, and rates vary significantly depending upon the measure utilized. Implications include the need for multiple informants, and the assessment of distinct BAP traits in large-scale genetic studies of individuals with ASD. En ligne : http://dx.doi.org/10.1007/s10803-012-1492-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=240

Imputing cognitive impairment in SPARK, a large autism cohort / C. SHU in Autism Research, 15-1 (January 2022)  

Public ISBD [article]  inAutism Research > 15-1 (January 2022) . - p.156-170 Titre : Imputing cognitive impairment in SPARK, a large autism cohort Type de document : Texte imprimé et/ou numérique Auteurs : C. SHU, Auteur ; LeeAnne GREEN SNYDER, Auteur ; Y. SHEN, Auteur ; W. K. CHUNG, Auteur Article en page(s) : p.156-170 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder  Autistic Disorder  Child  Cognition  Cognitive Dysfunction/complications  Humans  Intelligence  autism  cognitive impairment  imputation  intelligence quotient  machine learning Index. décimale : PER Périodiques Résumé : Diverse large cohorts are necessary for dissecting subtypes of autism, and intellectual disability is one of the most robust endophenotypes for analysis. However, current cognitive assessment methods are not feasible at scale. We developed five commonly used machine learning models to predict cognitive impairment (FSIQ<80 and FSIQ<70) and FSIQ scores among 521 children with autism using parent-reported online surveys in SPARK, and evaluated them in an independent set (n = 1346) with a missing data rate up to 70%. We assessed accuracy, sensitivity, and specificity by comparing predicted cognitive levels against clinical IQ data. The elastic-net model has good performance (AUC = 0.876, sensitivity = 0.772, specificity = 0.803) using 129 predictive features to impute cognitive impairment (FSIQ<80). Top-ranked predictive features included parent-reported language and cognitive levels, age at autism diagnosis, and history of services. Prediction of FSIQ<70 and FSIQ scores also showed good performance. We show cognitive levels can be imputed with high accuracy for children with autism, using commonly collected parent-reported data and standardized surveys. The current model offers a method for large-scale autism studies seeking estimates of cognitive ability when standardized psychometric testing is not feasible. LAY SUMMARY: Children with autism who have more severe learning challenges or cognitive impairment have different needs that are important to consider in research studies. When children in our study were missing standardized cognitive testing scores, we were able to use machine learning with other information to correctly "guess" when they have cognitive impairment about 80% of the time. We can use this information in research in the future to develop more appropriate treatments for children with autism and cognitive impairment. En ligne : http://dx.doi.org/10.1002/aur.2622 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450 [article] Imputing cognitive impairment in SPARK, a large autism cohort [Texte imprimé et/ou numérique] / C. SHU, Auteur ; LeeAnne GREEN SNYDER, Auteur ; Y. SHEN, Auteur ; W. K. CHUNG, Auteur . - p.156-170. Langues : Anglais (eng) in Autism Research > 15-1 (January 2022) . - p.156-170 Mots-clés : Autism Spectrum Disorder  Autistic Disorder  Child  Cognition  Cognitive Dysfunction/complications  Humans  Intelligence  autism  cognitive impairment  imputation  intelligence quotient  machine learning Index. décimale : PER Périodiques Résumé : Diverse large cohorts are necessary for dissecting subtypes of autism, and intellectual disability is one of the most robust endophenotypes for analysis. However, current cognitive assessment methods are not feasible at scale. We developed five commonly used machine learning models to predict cognitive impairment (FSIQ<80 and FSIQ<70) and FSIQ scores among 521 children with autism using parent-reported online surveys in SPARK, and evaluated them in an independent set (n = 1346) with a missing data rate up to 70%. We assessed accuracy, sensitivity, and specificity by comparing predicted cognitive levels against clinical IQ data. The elastic-net model has good performance (AUC = 0.876, sensitivity = 0.772, specificity = 0.803) using 129 predictive features to impute cognitive impairment (FSIQ<80). Top-ranked predictive features included parent-reported language and cognitive levels, age at autism diagnosis, and history of services. Prediction of FSIQ<70 and FSIQ scores also showed good performance. We show cognitive levels can be imputed with high accuracy for children with autism, using commonly collected parent-reported data and standardized surveys. The current model offers a method for large-scale autism studies seeking estimates of cognitive ability when standardized psychometric testing is not feasible. LAY SUMMARY: Children with autism who have more severe learning challenges or cognitive impairment have different needs that are important to consider in research studies. When children in our study were missing standardized cognitive testing scores, we were able to use machine learning with other information to correctly "guess" when they have cognitive impairment about 80% of the time. We can use this information in research in the future to develop more appropriate treatments for children with autism and cognitive impairment. En ligne : http://dx.doi.org/10.1002/aur.2622 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=450

Patterns of delay in early gross motor and expressive language milestone attainment in probands with genetic conditions versus idiopathic ASD from SFARI registries / J. WICKSTROM in Journal of Child Psychology and Psychiatry, 62-11 (November 2021)  

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Psychiatric and Medical Profiles of Autistic Adults in the SPARK Cohort / Eric FOMBONNE in Journal of Autism and Developmental Disorders, 50-10 (October 2020)  

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Psychotic symptoms in 16p11.2 copy-number variant carriers / Amandeep JUTLA in Autism Research, 13-2 (February 2020)  

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