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 Auteurs : Tess LEVY, Auteur ; Bari BRITVAN, Auteur ; Hannah E. 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 L. 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] / Tess LEVY, Auteur ; Bari BRITVAN, Auteur ; Hannah E. 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 L. 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: A Job-Based Social Skills Program (JOBSS) for Adults with Autism Spectrum Disorder: A Pilot Randomized Controlled Trial / Michelle GORENSTEIN in Journal of Autism and Developmental Disorders, 50-12 (December 2020)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 50-12 (December 2020) . - p.4527-4534 Titre : Brief Report: A Job-Based Social Skills Program (JOBSS) for Adults with Autism Spectrum Disorder: A Pilot Randomized Controlled Trial Type de document : texte imprimé Auteurs : Michelle GORENSTEIN, Auteur ; Ivy GISERMAN-KISS, Auteur ; Elyana FELDMAN, Auteur ; Emily L. ISENSTEIN, Auteur ; Lauren J. DONNELLY, Auteur ; A. Ting WANG, Auteur ; Jennifer H. FOSS-FEIG, Auteur Article en page(s) : p.4527-4534 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Employment  Intervention  Social skills  Transition to adulthood Index. décimale : PER Périodiques Résumé : Adults with autism spectrum disorder (ASD) have low employment rates; even those who are employed have low wages and limited hours. This study evaluated the effectiveness of the Job-Based Social Skills (JOBSS) curriculum, a manualized, 15-week, group-delivered intervention for adults with ASD. The intervention aimed to increase social-pragmatic skills necessary to obtain and maintain employment. Twenty-two adults were randomly assigned to either JOBSS intervention or wait-list control groups. Results showed significant improvement in social cognition, as reported by caregivers, among JOBSS group participants compared to wait-list control participants. Forty-five percent of intervention participants gained employment in the six months following participation. This curriculum has potential to improve social skills of adults with ASD, thereby increasing successful employment. En ligne : http://dx.doi.org/10.1007/s10803-020-04482-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=434 [article] Brief Report: A Job-Based Social Skills Program (JOBSS) for Adults with Autism Spectrum Disorder: A Pilot Randomized Controlled Trial [texte imprimé] / Michelle GORENSTEIN, Auteur ; Ivy GISERMAN-KISS, Auteur ; Elyana FELDMAN, Auteur ; Emily L. ISENSTEIN, Auteur ; Lauren J. DONNELLY, Auteur ; A. Ting WANG, Auteur ; Jennifer H. FOSS-FEIG, Auteur . - p.4527-4534. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 50-12 (December 2020) . - p.4527-4534 Mots-clés : Autism spectrum disorder  Employment  Intervention  Social skills  Transition to adulthood Index. décimale : PER Périodiques Résumé : Adults with autism spectrum disorder (ASD) have low employment rates; even those who are employed have low wages and limited hours. This study evaluated the effectiveness of the Job-Based Social Skills (JOBSS) curriculum, a manualized, 15-week, group-delivered intervention for adults with ASD. The intervention aimed to increase social-pragmatic skills necessary to obtain and maintain employment. Twenty-two adults were randomly assigned to either JOBSS intervention or wait-list control groups. Results showed significant improvement in social cognition, as reported by caregivers, among JOBSS group participants compared to wait-list control participants. Forty-five percent of intervention participants gained employment in the six months following participation. This curriculum has potential to improve social skills of adults with ASD, thereby increasing successful employment. En ligne : http://dx.doi.org/10.1007/s10803-020-04482-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=434

Developing Autism Screening Criteria for the Brief Infant Toddler Social Emotional Assessment (BITSEA) / Ivy GISERMAN-KISS in Journal of Autism and Developmental Disorders, 47-5 (May 2017)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 47-5 (May 2017) . - p.1269-1277 Titre : Developing Autism Screening Criteria for the Brief Infant Toddler Social Emotional Assessment (BITSEA) Type de document : texte imprimé Auteurs : Ivy GISERMAN-KISS, Auteur ; Melanie FELDMAN, Auteur ; R. Christopher SHELDRICK, Auteur ; Alice S. CARTER, Auteur Article en page(s) : p.1269-1277 Langues : Anglais (eng) Mots-clés : Autism spectrum disorder  Autism  Screening  BITSEA  Early detection Index. décimale : PER Périodiques Résumé : There is a critical need for evidence-based, broadband behavioral, and ASD screening measures for use in pediatric and early educational settings to ensure that young children at risk for developing social-emotional disorders and/or ASD are provided with early intervention services to optimize long-term outcomes. The BITSEA is a 42-item screener designed to identify social-emotional/behavioral problems and delays/deficits in social-emotional competence among 11–48-month-olds; 19 items describe behaviors consistent with ASD. Secondary data analysis was employed to develop cut-scores for ASD subscales using Receiver Operating Curves, discriminating children with (n = 223) and without (n = 289) ASD. Cut-scores demonstrated moderate-to-high discriminative power, sensitivity, specificity, and PPV. Findings highlight feasibility of using a broadband social-emotional competence and behavior problem screener to improve early detection of ASD. En ligne : http://dx.doi.org/10.1007/s10803-017-3044-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=305 [article] Developing Autism Screening Criteria for the Brief Infant Toddler Social Emotional Assessment (BITSEA) [texte imprimé] / Ivy GISERMAN-KISS, Auteur ; Melanie FELDMAN, Auteur ; R. Christopher SHELDRICK, Auteur ; Alice S. CARTER, Auteur . - p.1269-1277. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 47-5 (May 2017) . - p.1269-1277 Mots-clés : Autism spectrum disorder  Autism  Screening  BITSEA  Early detection Index. décimale : PER Périodiques Résumé : There is a critical need for evidence-based, broadband behavioral, and ASD screening measures for use in pediatric and early educational settings to ensure that young children at risk for developing social-emotional disorders and/or ASD are provided with early intervention services to optimize long-term outcomes. The BITSEA is a 42-item screener designed to identify social-emotional/behavioral problems and delays/deficits in social-emotional competence among 11–48-month-olds; 19 items describe behaviors consistent with ASD. Secondary data analysis was employed to develop cut-scores for ASD subscales using Receiver Operating Curves, discriminating children with (n = 223) and without (n = 289) ASD. Cut-scores demonstrated moderate-to-high discriminative power, sensitivity, specificity, and PPV. Findings highlight feasibility of using a broadband social-emotional competence and behavior problem screener to improve early detection of ASD. En ligne : http://dx.doi.org/10.1007/s10803-017-3044-1 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=305

Prospective and detailed behavioral phenotyping in DDX3X syndrome / Lara TANG in Molecular Autism, 12 (2021)  

Public ISBD [article]  inMolecular Autism > 12 (2021) . - 36 p. Titre : Prospective and detailed behavioral phenotyping in DDX3X syndrome Type de document : texte imprimé Auteurs : Lara TANG, Auteur ; Tess LEVY, Auteur ; Sylvia B. GUILLORY, Auteur ; Danielle B. HALPERN, Auteur ; Jessica ZWEIFACH, Auteur ; Ivy GISERMAN-KISS, Auteur ; Jennifer H. FOSS-FEIG, Auteur ; Yitzchak FRANK, Auteur ; Reymundo LOZANO, Auteur ; Puneet BELANI, Auteur ; Christina LAYTON, Auteur ; Bonnie LERMAN, Auteur ; Emanuel FROWNER, Auteur ; Michael S. BREEN, Auteur ; Silvia DE RUBEIS, Auteur ; Ana KOSTIC, Auteur ; Alexander KOLEVZON, Auteur ; Joseph D. BUXBAUM, Auteur ; Paige M. SIPER, Auteur ; Dorothy E. GRICE, Auteur Article en page(s) : 36 p. Langues : Anglais (eng) Mots-clés : Autism  DDX3X syndrome  Developmental delay  Genotype–phenotype correlation  Intellectual disability  Therapeutics, Acadia, and Sema4. PMS is the inventor of the SAND, which is licensed  by Mount Sinai to Stoelting Co. No other competing interests to declare. Index. décimale : PER Périodiques Résumé : BACKGROUND: DDX3X syndrome is a recently identified genetic disorder that accounts for 1-3% of cases of unexplained developmental delay and/or intellectual disability (ID) in females, and is associated with motor and language delays, and autism spectrum disorder (ASD). To date, the published phenotypic characterization of this syndrome has primarily relied on medical record review; in addition, the behavioral dimensions of the syndrome have not been fully explored. METHODS: We carried out multi-day, prospective, detailed phenotyping of DDX3X syndrome in 14 females and 1 male, focusing on behavioral, psychological, and neurological measures. Three participants in this cohort were previously reported with limited phenotype information and were re-evaluated for this study. We compared results against population norms and contrasted phenotypes between individuals harboring either (1) protein-truncating variants or (2) missense variants or in-frame deletions. RESULTS: Eighty percent (80%) of individuals met criteria for ID, 60% for ASD and 53% for attention-deficit/hyperactivity disorder (ADHD). Motor and language delays were common as were sensory processing abnormalities. The cohort included 5 missense, 3 intronic/splice-site, 2 nonsense, 2 frameshift, 2 in-frame deletions, and one initiation codon variant. Genotype-phenotype correlations indicated that, on average, missense variants/in-frame deletions were associated with more severe language, motor, and adaptive deficits in comparison to protein-truncating variants. LIMITATIONS: Sample size is modest, however, DDX3X syndrome is a rare and underdiagnosed disorder. CONCLUSION: This study, representing a first, prospective, detailed characterization of DDX3X syndrome, extends our understanding of the neurobehavioral phenotype. Gold-standard diagnostic approaches demonstrated high rates of ID, ASD, and ADHD. In addition, sensory deficits were observed to be a key part of the syndrome. Even with a modest sample, we observe evidence for genotype-phenotype correlations with missense variants/in-frame deletions generally associated with more severe phenotypes. En ligne : http://dx.doi.org/10.1186/s13229-021-00431-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459 [article] Prospective and detailed behavioral phenotyping in DDX3X syndrome [texte imprimé] / Lara TANG, Auteur ; Tess LEVY, Auteur ; Sylvia B. GUILLORY, Auteur ; Danielle B. HALPERN, Auteur ; Jessica ZWEIFACH, Auteur ; Ivy GISERMAN-KISS, Auteur ; Jennifer H. FOSS-FEIG, Auteur ; Yitzchak FRANK, Auteur ; Reymundo LOZANO, Auteur ; Puneet BELANI, Auteur ; Christina LAYTON, Auteur ; Bonnie LERMAN, Auteur ; Emanuel FROWNER, Auteur ; Michael S. BREEN, Auteur ; Silvia DE RUBEIS, Auteur ; Ana KOSTIC, Auteur ; Alexander KOLEVZON, Auteur ; Joseph D. BUXBAUM, Auteur ; Paige M. SIPER, Auteur ; Dorothy E. GRICE, Auteur . - 36 p. Langues : Anglais (eng) in Molecular Autism > 12 (2021) . - 36 p. Mots-clés : Autism  DDX3X syndrome  Developmental delay  Genotype–phenotype correlation  Intellectual disability  Therapeutics, Acadia, and Sema4. PMS is the inventor of the SAND, which is licensed  by Mount Sinai to Stoelting Co. No other competing interests to declare. Index. décimale : PER Périodiques Résumé : BACKGROUND: DDX3X syndrome is a recently identified genetic disorder that accounts for 1-3% of cases of unexplained developmental delay and/or intellectual disability (ID) in females, and is associated with motor and language delays, and autism spectrum disorder (ASD). To date, the published phenotypic characterization of this syndrome has primarily relied on medical record review; in addition, the behavioral dimensions of the syndrome have not been fully explored. METHODS: We carried out multi-day, prospective, detailed phenotyping of DDX3X syndrome in 14 females and 1 male, focusing on behavioral, psychological, and neurological measures. Three participants in this cohort were previously reported with limited phenotype information and were re-evaluated for this study. We compared results against population norms and contrasted phenotypes between individuals harboring either (1) protein-truncating variants or (2) missense variants or in-frame deletions. RESULTS: Eighty percent (80%) of individuals met criteria for ID, 60% for ASD and 53% for attention-deficit/hyperactivity disorder (ADHD). Motor and language delays were common as were sensory processing abnormalities. The cohort included 5 missense, 3 intronic/splice-site, 2 nonsense, 2 frameshift, 2 in-frame deletions, and one initiation codon variant. Genotype-phenotype correlations indicated that, on average, missense variants/in-frame deletions were associated with more severe language, motor, and adaptive deficits in comparison to protein-truncating variants. LIMITATIONS: Sample size is modest, however, DDX3X syndrome is a rare and underdiagnosed disorder. CONCLUSION: This study, representing a first, prospective, detailed characterization of DDX3X syndrome, extends our understanding of the neurobehavioral phenotype. Gold-standard diagnostic approaches demonstrated high rates of ID, ASD, and ADHD. In addition, sensory deficits were observed to be a key part of the syndrome. Even with a modest sample, we observe evidence for genotype-phenotype correlations with missense variants/in-frame deletions generally associated with more severe phenotypes. En ligne : http://dx.doi.org/10.1186/s13229-021-00431-z Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=459

Stability of Autism Spectrum Disorder in Young Children with Diverse Backgrounds / Ivy GISERMAN-KISS in Journal of Autism and Developmental Disorders, 50-9 (September 2020)  

Public ISBD [article]  inJournal of Autism and Developmental Disorders > 50-9 (September 2020) . - p.3263-3275 Titre : Stability of Autism Spectrum Disorder in Young Children with Diverse Backgrounds Type de document : texte imprimé Auteurs : Ivy GISERMAN-KISS, Auteur ; Alice S. CARTER, Auteur Année de publication : 2020 Article en page(s) : p.3263-3275 Langues : Anglais (eng) Mots-clés : Autism  Autism spectrum disorder  Diagnostic stability  Early detection Index. décimale : PER Périodiques Résumé : Determining diagnostic stability of ASD, as well stability of functioning in early childhood, is relevant to prevalence, best practices for communicating early ASD diagnoses to caregivers, families' experiences, and developmental trajectories. Generalizability of findings from prior research has been limited by small and homogenous samples, short follow-up time intervals, and inconsistent diagnostic procedures. This report presents follow-up evaluations of 60 children (86.7% male, mean age: 51.3 months) with diverse backgrounds (79.7% racial/ethnic minorities) who received initial ASD diagnoses before 36 months of age (mean age: 27 months). Fifty-three children (88.3%) met diagnostic criteria for ASD at follow-up, a proportion consistent with previous studies. On average, children demonstrated significant cognitive gains and ASD symptom improvement. Clinical implications of findings are discussed. En ligne : http://dx.doi.org/10.1007/s10803-019-04138-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=430 [article] Stability of Autism Spectrum Disorder in Young Children with Diverse Backgrounds [texte imprimé] / Ivy GISERMAN-KISS, Auteur ; Alice S. CARTER, Auteur . - 2020 . - p.3263-3275. Langues : Anglais (eng) in Journal of Autism and Developmental Disorders > 50-9 (September 2020) . - p.3263-3275 Mots-clés : Autism  Autism spectrum disorder  Diagnostic stability  Early detection Index. décimale : PER Périodiques Résumé : Determining diagnostic stability of ASD, as well stability of functioning in early childhood, is relevant to prevalence, best practices for communicating early ASD diagnoses to caregivers, families' experiences, and developmental trajectories. Generalizability of findings from prior research has been limited by small and homogenous samples, short follow-up time intervals, and inconsistent diagnostic procedures. This report presents follow-up evaluations of 60 children (86.7% male, mean age: 51.3 months) with diverse backgrounds (79.7% racial/ethnic minorities) who received initial ASD diagnoses before 36 months of age (mean age: 27 months). Fifty-three children (88.3%) met diagnostic criteria for ASD at follow-up, a proportion consistent with previous studies. On average, children demonstrated significant cognitive gains and ASD symptom improvement. Clinical implications of findings are discussed. En ligne : http://dx.doi.org/10.1007/s10803-019-04138-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=430

The Immersive Theater Experience for Individuals with Autism Spectrum Disorder / Ivy GISERMAN-KISS in Journal of Autism and Developmental Disorders, 50-3 (March 2020)  

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Thresholds and accuracy in screening tools for early detection of psychopathology / R. Christopher SHELDRICK in Journal of Child Psychology and Psychiatry, 56-9 (September 2015)  

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