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 Auteurs : Chimei M. LEE, Auteur ; LeeAnne GREEN SNYDER, Auteur ; Laura A. CARPENTER, Auteur ; Jill HARRIS, Auteur ; Stephen M. KANNE, Auteur ; Cora M. TAYLOR, Auteur ; Dustin E. SARVER, Auteur ; Kevin G. STEPHENSON, Auteur ; Lisa H. SHULMAN, Auteur ; Ericka L. WODKA, Auteur ; Amy N. ESLER, Auteur ; THE SPARK CONSORTIUM, 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] / Chimei M. LEE, Auteur ; LeeAnne GREEN SNYDER, Auteur ; Laura A. CARPENTER, Auteur ; Jill HARRIS, Auteur ; Stephen M. KANNE, Auteur ; Cora M. TAYLOR, Auteur ; Dustin E. SARVER, Auteur ; Kevin G. STEPHENSON, Auteur ; Lisa H. SHULMAN, Auteur ; Ericka L. WODKA, Auteur ; Amy N. ESLER, Auteur ; THE SPARK CONSORTIUM, 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 Auteurs : LeeAnne GREEN SNYDER, Auteur ; Debra D’ANGELO, Auteur ; Qixuan CHEN, Auteur ; Raphael A. 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 S. KUSCHNER, Auteur ; Timothy P.L. ROBERTS, Auteur ; Elliot SHERR, Auteur ; Christa Lese 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] / LeeAnne GREEN SNYDER, Auteur ; Debra D’ANGELO, Auteur ; Qixuan CHEN, Auteur ; Raphael A. 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 S. KUSCHNER, Auteur ; Timothy P.L. ROBERTS, Auteur ; Elliot SHERR, Auteur ; Christa Lese 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

Comparative Analysis of Autistic Women Across the Lifespan: Childhood vs. Adulthood Diagnosis / Maire Claire DIEMER in Autism Research, 18-8 (August 2025)  

Public ISBD [article]  inAutism Research > 18-8 (August 2025) . - p.1651-1663 Titre : Comparative Analysis of Autistic Women Across the Lifespan: Childhood vs. Adulthood Diagnosis Type de document : texte imprimé Auteurs : Maire Claire DIEMER, Auteur ; Rosmary ROS-DEMARIZE, Auteur ; Catherine BRADLEY, Auteur ; Stephen M. KANNE, Auteur ; So Hyun KIM, Auteur ; Julia PARISH-MORRIS, Auteur ; LeeAnne GREEN SNYDER, Auteur ; Ericka WODKA, Auteur ; THE SPARK CONSORTIUM, Auteur ; Laura A. CARPENTER, Auteur Article en page(s) : p.1651-1663 Langues : Anglais (eng) Mots-clés : adults  autism  co-occurring conditions  LGBT  lifespan  SPARK  women Index. décimale : PER Périodiques Résumé : ABSTRACT This study investigates the experiences of autistic adult women, a group understudied in autism research due to a predominant focus on early identification/intervention, restrictive research participation criteria, and differing rates of diagnosis by sex. This study characterizes a cohort of autistic adult women (n 1424) across various dimensions including demographics, relationships, education, employment, income, well-being, and co-occurring psychiatric conditions. It also explores differences among those diagnosed with autism as children versus those diagnosed as adults. The sample was limited to women able to read and provide independent consent to participate. Results indicated that the average age of diagnosis for those diagnosed before age 18 was 9.6 years old, whereas for those diagnosed in adulthood it was 31.8. Over 80% of the sample had completed some college or post-secondary education, with more than a third of those diagnosed as adults having attained a 4-year college degree or higher. More than half were employed, with those diagnosed as adults more likely to be employed full time (31.74%). Additionally, more than half were married or identified a romantic partner. Significant rates of psychiatric comorbidity were reported, with those diagnosed with autism as adults more likely to have co-occurring anxiety (69.87%), depression (61.79%), eating disorders (17.28%), and substance use diagnoses (8.85%) than those diagnosed as children. High rates of suicidal ideation (34%) and self-harm (21%) were endorsed in the full sample. Regression analyses indicated that being diagnosed with autism at a later age was associated with higher internalizing, externalizing, and substance use as well as a lower report of personal strengths, even when accounting for demographic factors. Despite these challenges, our findings highlight that many autistic women have positive outcomes and meet common adult developmental milestones. The authors advocate for the development of more tailored treatment options that address the specific needs of autistic women. En ligne : https://doi.org/10.1002/aur.70073 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=566 [article] Comparative Analysis of Autistic Women Across the Lifespan: Childhood vs. Adulthood Diagnosis [texte imprimé] / Maire Claire DIEMER, Auteur ; Rosmary ROS-DEMARIZE, Auteur ; Catherine BRADLEY, Auteur ; Stephen M. KANNE, Auteur ; So Hyun KIM, Auteur ; Julia PARISH-MORRIS, Auteur ; LeeAnne GREEN SNYDER, Auteur ; Ericka WODKA, Auteur ; THE SPARK CONSORTIUM, Auteur ; Laura A. CARPENTER, Auteur . - p.1651-1663. Langues : Anglais (eng) in Autism Research > 18-8 (August 2025) . - p.1651-1663 Mots-clés : adults  autism  co-occurring conditions  LGBT  lifespan  SPARK  women Index. décimale : PER Périodiques Résumé : ABSTRACT This study investigates the experiences of autistic adult women, a group understudied in autism research due to a predominant focus on early identification/intervention, restrictive research participation criteria, and differing rates of diagnosis by sex. This study characterizes a cohort of autistic adult women (n 1424) across various dimensions including demographics, relationships, education, employment, income, well-being, and co-occurring psychiatric conditions. It also explores differences among those diagnosed with autism as children versus those diagnosed as adults. The sample was limited to women able to read and provide independent consent to participate. Results indicated that the average age of diagnosis for those diagnosed before age 18 was 9.6 years old, whereas for those diagnosed in adulthood it was 31.8. Over 80% of the sample had completed some college or post-secondary education, with more than a third of those diagnosed as adults having attained a 4-year college degree or higher. More than half were employed, with those diagnosed as adults more likely to be employed full time (31.74%). Additionally, more than half were married or identified a romantic partner. Significant rates of psychiatric comorbidity were reported, with those diagnosed with autism as adults more likely to have co-occurring anxiety (69.87%), depression (61.79%), eating disorders (17.28%), and substance use diagnoses (8.85%) than those diagnosed as children. High rates of suicidal ideation (34%) and self-harm (21%) were endorsed in the full sample. Regression analyses indicated that being diagnosed with autism at a later age was associated with higher internalizing, externalizing, and substance use as well as a lower report of personal strengths, even when accounting for demographic factors. Despite these challenges, our findings highlight that many autistic women have positive outcomes and meet common adult developmental milestones. The authors advocate for the development of more tailored treatment options that address the specific needs of autistic women. En ligne : https://doi.org/10.1002/aur.70073 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=566

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 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 A. 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] / 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 A. 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 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] / 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

Gastrointestinal symptoms have a non-temporal association with regression in a cohort with autism spectrum disorder using the simons simplex collection / Adriana BAGOS-ESTEVEZ ; LeeAnne GREEN SNYDER ; Athanasios TSALATSANIS ; Amelia BOEHME ; Jennifer M. BAIN in Research in Autism Spectrum Disorders, 111 (March 2024)  

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

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Patterns of delay in early gross motor and expressive language milestone attainment in probands with genetic conditions versus idiopathic ASD from SFARI registries / Jordan 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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