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

Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations / Silvia DE RUBEIS in Molecular Autism, 9 (2018)  

Public ISBD [article]  inMolecular Autism > 9 (2018) . - 31p. Titre : Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations Type de document : texte imprimé Auteurs : Silvia DE RUBEIS, Auteur ; Paige M. SIPER, Auteur ; Allison DURKIN, Auteur ; Jordana WEISSMAN, Auteur ; François MURATET, Auteur ; Danielle B. HALPERN, Auteur ; Maria Del Pilar TRELLES, Auteur ; Yitzchak FRANK, Auteur ; Reymundo LOZANO, Auteur ; A. Ting WANG, Auteur ; J. Lloyd HOLDER, Auteur ; Catalina BETANCUR, Auteur ; Joseph D. BUXBAUM, Auteur ; Alexander KOLEVZON, Auteur Article en page(s) : 31p. Langues : Anglais (eng) Mots-clés : Adolescent  Adult  Child  Child, Preschool  Chromosome Deletion  Chromosome Disorders/genetics/pathology  Chromosomes, Human, Pair 22/genetics  Female  Haploinsufficiency  Humans  Male  Nerve Tissue Proteins/genetics  Phenotype  Point Mutation  22q13 deletion syndrome  Autism spectrum disorder  Intellectual disability  Phelan-McDermid syndrome  shank3  Sequence variants Index. décimale : PER Périodiques Résumé : Background: Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by psychiatric and neurological features. Most reported cases are caused by 22q13.3 deletions, leading to SHANK3 haploinsufficiency, but also usually encompassing many other genes. While the number of point mutations identified in SHANK3 has increased in recent years due to large-scale sequencing studies, systematic studies describing the phenotype of individuals harboring such mutations are lacking. Methods: We provide detailed clinical and genetic data on 17 individuals carrying mutations in SHANK3. We also review 60 previously reported patients with pathogenic or likely pathogenic SHANK3 variants, often lacking detailed phenotypic information. Results: SHANK3 mutations in our cohort and in previously reported cases were distributed throughout the protein; the majority were truncating and all were compatible with de novo inheritance. Despite substantial allelic heterogeneity, four variants were recurrent (p.Leu1142Valfs*153, p.Ala1227Glyfs*69, p.Arg1255Leufs*25, and c.2265+1G>A), suggesting that these are hotspots for de novo mutations. All individuals studied had intellectual disability, and autism spectrum disorder was prevalent (73%). Severe speech deficits were common, but in contrast to individuals with 22q13.3 deletions, the majority developed single words, including 41% with at least phrase speech. Other common findings were consistent with reports among individuals with 22q13.3 deletions, including hypotonia, motor skill deficits, regression, seizures, brain abnormalities, mild dysmorphic features, and feeding and gastrointestinal problems. Conclusions: Haploinsufficiency of SHANK3 resulting from point mutations is sufficient to cause a broad range of features associated with PMS. Our findings expand the molecular and phenotypic spectrum of PMS caused by SHANK3 point mutations and suggest that, in general, speech impairment and motor deficits are more severe in the case of deletions. In contrast, renal abnormalities associated with 22q13.3 deletions do not appear to be related to the loss of SHANK3. En ligne : https://dx.doi.org/10.1186/s13229-018-0205-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=371 [article] Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations [texte imprimé] / Silvia DE RUBEIS, Auteur ; Paige M. SIPER, Auteur ; Allison DURKIN, Auteur ; Jordana WEISSMAN, Auteur ; François MURATET, Auteur ; Danielle B. HALPERN, Auteur ; Maria Del Pilar TRELLES, Auteur ; Yitzchak FRANK, Auteur ; Reymundo LOZANO, Auteur ; A. Ting WANG, Auteur ; J. Lloyd HOLDER, Auteur ; Catalina BETANCUR, Auteur ; Joseph D. BUXBAUM, Auteur ; Alexander KOLEVZON, Auteur . - 31p. Langues : Anglais (eng) in Molecular Autism > 9 (2018) . - 31p. Mots-clés : Adolescent  Adult  Child  Child, Preschool  Chromosome Deletion  Chromosome Disorders/genetics/pathology  Chromosomes, Human, Pair 22/genetics  Female  Haploinsufficiency  Humans  Male  Nerve Tissue Proteins/genetics  Phenotype  Point Mutation  22q13 deletion syndrome  Autism spectrum disorder  Intellectual disability  Phelan-McDermid syndrome  shank3  Sequence variants Index. décimale : PER Périodiques Résumé : Background: Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by psychiatric and neurological features. Most reported cases are caused by 22q13.3 deletions, leading to SHANK3 haploinsufficiency, but also usually encompassing many other genes. While the number of point mutations identified in SHANK3 has increased in recent years due to large-scale sequencing studies, systematic studies describing the phenotype of individuals harboring such mutations are lacking. Methods: We provide detailed clinical and genetic data on 17 individuals carrying mutations in SHANK3. We also review 60 previously reported patients with pathogenic or likely pathogenic SHANK3 variants, often lacking detailed phenotypic information. Results: SHANK3 mutations in our cohort and in previously reported cases were distributed throughout the protein; the majority were truncating and all were compatible with de novo inheritance. Despite substantial allelic heterogeneity, four variants were recurrent (p.Leu1142Valfs*153, p.Ala1227Glyfs*69, p.Arg1255Leufs*25, and c.2265+1G>A), suggesting that these are hotspots for de novo mutations. All individuals studied had intellectual disability, and autism spectrum disorder was prevalent (73%). Severe speech deficits were common, but in contrast to individuals with 22q13.3 deletions, the majority developed single words, including 41% with at least phrase speech. Other common findings were consistent with reports among individuals with 22q13.3 deletions, including hypotonia, motor skill deficits, regression, seizures, brain abnormalities, mild dysmorphic features, and feeding and gastrointestinal problems. Conclusions: Haploinsufficiency of SHANK3 resulting from point mutations is sufficient to cause a broad range of features associated with PMS. Our findings expand the molecular and phenotypic spectrum of PMS caused by SHANK3 point mutations and suggest that, in general, speech impairment and motor deficits are more severe in the case of deletions. In contrast, renal abnormalities associated with 22q13.3 deletions do not appear to be related to the loss of SHANK3. En ligne : https://dx.doi.org/10.1186/s13229-018-0205-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=371

Genetic and epigenetic signatures associated with plasma oxytocin levels in children and adolescents with autism spectrum disorder / Stephen K. SIECINSKI in Autism Research, 16-3 (March 2023)  

Public ISBD [article]  inAutism Research > 16-3 (March 2023) . - p.502-523 Titre : Genetic and epigenetic signatures associated with plasma oxytocin levels in children and adolescents with autism spectrum disorder Type de document : texte imprimé Auteurs : Stephen K. SIECINSKI, Auteur ; Stephanie N. GIAMBERARDINO, Auteur ; Marina SPANOS, Auteur ; Annalise C. HAUSER, Auteur ; Jason R. GIBSON, Auteur ; Tara CHANDRASEKHAR, Auteur ; Maria Del Pilar TRELLES, Auteur ; Carol M. ROCKHILL, Auteur ; Michelle L. PALUMBO, Auteur ; Allyson Witters CUNDIFF, Auteur ; Alicia MONTGOMERY, Auteur ; Paige SIPER, Auteur ; Mendy B. MINJAREZ, Auteur ; Lisa A. NOWINSKI, Auteur ; Sarah MARLER, Auteur ; Lydia C. KWEE, Auteur ; Lauren C. SHUFFREY, Auteur ; Cheryl ALDERMAN, Auteur ; Jordana WEISSMAN, Auteur ; Brooke ZAPPONE, Auteur ; Jennifer E. MULLETT, Auteur ; Hope CROSSON, Auteur ; Natalie HONG, Auteur ; Sheng LUO, Auteur ; Lilin SHE, Auteur ; Manjushri BHAPKAR, Auteur ; Russell DEAN, Auteur ; Abby SCHEER, Auteur ; Jacqueline L. JOHNSON, Auteur ; Bryan H. KING, Auteur ; Christopher J. MCDOUGLE, Auteur ; Kevin B. SANDERS, Auteur ; Soo-Jeong KIM, Auteur ; Alexander KOLEVZON, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur ; Elizabeth R. HAUSER, Auteur ; Linmarie SIKICH, Auteur ; Simon G. GREGORY, Auteur Article en page(s) : p.502-523 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Abstract Oxytocin (OT), the brain's most abundant neuropeptide, plays an important role in social salience and motivation. Clinical trials of the efficacy of OT in autism spectrum disorder (ASD) have reported mixed results due in part to ASD's complex etiology. We investigated whether genetic and epigenetic variation contribute to variable endogenous OT levels that modulate sensitivity to OT therapy. To carry out this analysis, we integrated genome-wide profiles of DNA-methylation, transcriptional activity, and genetic variation with plasma OT levels in 290 participants with ASD enrolled in a randomized controlled trial of OT. Our analysis identified genetic variants with novel association with plasma OT, several of which reside in known ASD risk genes. We also show subtle but statistically significant association of plasma OT levels with peripheral transcriptional activity and DNA-methylation profiles across several annotated gene sets. These findings broaden our understanding of the effects of the peripheral oxytocin system and provide novel genetic candidates for future studies to decode the complex etiology of ASD and its interaction with OT signaling and OT-based interventions. Lay Summary Oxytocin (OT) is an abundant chemical produced by neurons that plays an important role in social interaction and motivation. We investigated whether genetic and epigenetic factors contribute to variable OT levels in the blood. To this, we integrated genetic, gene expression, and non-DNA regulated (epigenetic) signatures with blood OT levels in 290 participants with autism enrolled in an OT clinical trial. We identified genetic association with plasma OT, several of which reside in known autism risk genes. We also show statistically significant association of plasma OT levels with gene expression and epigenetic across several gene pathways. These findings broaden our understanding of the factors that influence OT levels in the blood for future studies to decode the complex presentation of autism and its interaction with OT and OT-based treatment. En ligne : https://doi.org/10.1002/aur.2884 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=498 [article] Genetic and epigenetic signatures associated with plasma oxytocin levels in children and adolescents with autism spectrum disorder [texte imprimé] / Stephen K. SIECINSKI, Auteur ; Stephanie N. GIAMBERARDINO, Auteur ; Marina SPANOS, Auteur ; Annalise C. HAUSER, Auteur ; Jason R. GIBSON, Auteur ; Tara CHANDRASEKHAR, Auteur ; Maria Del Pilar TRELLES, Auteur ; Carol M. ROCKHILL, Auteur ; Michelle L. PALUMBO, Auteur ; Allyson Witters CUNDIFF, Auteur ; Alicia MONTGOMERY, Auteur ; Paige SIPER, Auteur ; Mendy B. MINJAREZ, Auteur ; Lisa A. NOWINSKI, Auteur ; Sarah MARLER, Auteur ; Lydia C. KWEE, Auteur ; Lauren C. SHUFFREY, Auteur ; Cheryl ALDERMAN, Auteur ; Jordana WEISSMAN, Auteur ; Brooke ZAPPONE, Auteur ; Jennifer E. MULLETT, Auteur ; Hope CROSSON, Auteur ; Natalie HONG, Auteur ; Sheng LUO, Auteur ; Lilin SHE, Auteur ; Manjushri BHAPKAR, Auteur ; Russell DEAN, Auteur ; Abby SCHEER, Auteur ; Jacqueline L. JOHNSON, Auteur ; Bryan H. KING, Auteur ; Christopher J. MCDOUGLE, Auteur ; Kevin B. SANDERS, Auteur ; Soo-Jeong KIM, Auteur ; Alexander KOLEVZON, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur ; Elizabeth R. HAUSER, Auteur ; Linmarie SIKICH, Auteur ; Simon G. GREGORY, Auteur . - p.502-523. Langues : Anglais (eng) in Autism Research > 16-3 (March 2023) . - p.502-523 Index. décimale : PER Périodiques Résumé : Abstract Oxytocin (OT), the brain's most abundant neuropeptide, plays an important role in social salience and motivation. Clinical trials of the efficacy of OT in autism spectrum disorder (ASD) have reported mixed results due in part to ASD's complex etiology. We investigated whether genetic and epigenetic variation contribute to variable endogenous OT levels that modulate sensitivity to OT therapy. To carry out this analysis, we integrated genome-wide profiles of DNA-methylation, transcriptional activity, and genetic variation with plasma OT levels in 290 participants with ASD enrolled in a randomized controlled trial of OT. Our analysis identified genetic variants with novel association with plasma OT, several of which reside in known ASD risk genes. We also show subtle but statistically significant association of plasma OT levels with peripheral transcriptional activity and DNA-methylation profiles across several annotated gene sets. These findings broaden our understanding of the effects of the peripheral oxytocin system and provide novel genetic candidates for future studies to decode the complex etiology of ASD and its interaction with OT signaling and OT-based interventions. Lay Summary Oxytocin (OT) is an abundant chemical produced by neurons that plays an important role in social interaction and motivation. We investigated whether genetic and epigenetic factors contribute to variable OT levels in the blood. To this, we integrated genetic, gene expression, and non-DNA regulated (epigenetic) signatures with blood OT levels in 290 participants with autism enrolled in an OT clinical trial. We identified genetic association with plasma OT, several of which reside in known autism risk genes. We also show statistically significant association of plasma OT levels with gene expression and epigenetic across several gene pathways. These findings broaden our understanding of the factors that influence OT levels in the blood for future studies to decode the complex presentation of autism and its interaction with OT and OT-based treatment. En ligne : https://doi.org/10.1002/aur.2884 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=498

Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome / Kellie GERGOUDIS in Autism Research, 13-8 (August 2020)  

Public ISBD [article]  inAutism Research > 13-8 (August 2020) . - p.1383-1396 Titre : Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome Type de document : texte imprimé Auteurs : Kellie GERGOUDIS, Auteur ; Alan WEINBERG, Auteur ; Jonathan TEMPLIN, Auteur ; Cristan FARMER, Auteur ; Allison DURKIN, Auteur ; Jordana WEISSMAN, Auteur ; Paige SIPER, Auteur ; Jennifer H. FOSS-FEIG, Auteur ; Maria Del Pilar TRELLES, Auteur ; Jonathan A. BERNSTEIN, Auteur ; Joseph D. BUXBAUM, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Craig M. POWELL, Auteur ; Mustafa SAHIN, Auteur ; Latha SOORYA, Auteur ; Audrey THURM, Auteur ; Alexander KOLEVZON, Auteur Article en page(s) : p.1383-1396 Langues : Anglais (eng) Mots-clés : Item Response Theory  Phelan-McDermid syndrome  autism spectrum disorder  behavioral measures  intellectual disability Index. décimale : PER Périodiques Résumé : The Social Responsiveness Scale-2 (SRS-2) is a quantitative measure used to characterize symptoms of autism spectrum disorder (ASD). However, research suggests that SRS-2 scores are significantly influenced by language ability and intellectual disability (ID). Efforts to refine the SRS-2 by Sturm, Kuhfeld, Kasari, and Mccracken [Journal of Child Psychology and Psychiatry, 58(9), 1053-1061] yielded a shortened form, yet its psychometric properties in populations with severe ID remain unknown. This study aims to examine the psychometric properties of the SRS-2 in Phelan-McDermid syndrome (PMS), a genetic condition associated with ASD and ID, thereby guiding score interpretation in this population and future development of targeted scales. Analyses, including Item Response Theory (IRT), were conducted on a sample of individuals with PMS (n = 91) recruited at six sites nationally. Psychometric properties evaluated include measures of reliability (internal consistency, test-retest reliability) and validity (structural, construct, content). While both SRS-2 forms are reliable, the shortened SRS-2 shows superior validity to the full SRS-2 for measuring ASD symptoms in PMS. On IRT analysis, the shortened SRS-2 shows excellent discrimination and precisely evaluates respondents across a wide range of ASD symptomatology but interpretation is limited by uncertain content validity and small sample size. The shortened SRS-2 shows some promise for use in PMS, but future refinements and additions are needed to develop items that are tailored to identify ASD in children with severe ID and specifically PMS. LAY SUMMARY: This study determined that a shortened form of the Social Responsiveness Scale, Second Edition (SRS-2) shows both promise and limitations for the characterization of autism symptomatology in individuals with Phelan-McDermid syndrome (PMS), a population characterized by intellectual disability (ID). Caution should be used when interpreting SRS-2 scores in individuals with ID and future research should modify existing items and develop new items to improve the SRS-2's ability to accurately characterize autism symptomatology in PMS. Autism Res 2020, 13: 1383-1396. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.2299 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=430 [article] Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome [texte imprimé] / Kellie GERGOUDIS, Auteur ; Alan WEINBERG, Auteur ; Jonathan TEMPLIN, Auteur ; Cristan FARMER, Auteur ; Allison DURKIN, Auteur ; Jordana WEISSMAN, Auteur ; Paige SIPER, Auteur ; Jennifer H. FOSS-FEIG, Auteur ; Maria Del Pilar TRELLES, Auteur ; Jonathan A. BERNSTEIN, Auteur ; Joseph D. BUXBAUM, Auteur ; Elizabeth BERRY-KRAVIS, Auteur ; Craig M. POWELL, Auteur ; Mustafa SAHIN, Auteur ; Latha SOORYA, Auteur ; Audrey THURM, Auteur ; Alexander KOLEVZON, Auteur . - p.1383-1396. Langues : Anglais (eng) in Autism Research > 13-8 (August 2020) . - p.1383-1396 Mots-clés : Item Response Theory  Phelan-McDermid syndrome  autism spectrum disorder  behavioral measures  intellectual disability Index. décimale : PER Périodiques Résumé : The Social Responsiveness Scale-2 (SRS-2) is a quantitative measure used to characterize symptoms of autism spectrum disorder (ASD). However, research suggests that SRS-2 scores are significantly influenced by language ability and intellectual disability (ID). Efforts to refine the SRS-2 by Sturm, Kuhfeld, Kasari, and Mccracken [Journal of Child Psychology and Psychiatry, 58(9), 1053-1061] yielded a shortened form, yet its psychometric properties in populations with severe ID remain unknown. This study aims to examine the psychometric properties of the SRS-2 in Phelan-McDermid syndrome (PMS), a genetic condition associated with ASD and ID, thereby guiding score interpretation in this population and future development of targeted scales. Analyses, including Item Response Theory (IRT), were conducted on a sample of individuals with PMS (n = 91) recruited at six sites nationally. Psychometric properties evaluated include measures of reliability (internal consistency, test-retest reliability) and validity (structural, construct, content). While both SRS-2 forms are reliable, the shortened SRS-2 shows superior validity to the full SRS-2 for measuring ASD symptoms in PMS. On IRT analysis, the shortened SRS-2 shows excellent discrimination and precisely evaluates respondents across a wide range of ASD symptomatology but interpretation is limited by uncertain content validity and small sample size. The shortened SRS-2 shows some promise for use in PMS, but future refinements and additions are needed to develop items that are tailored to identify ASD in children with severe ID and specifically PMS. LAY SUMMARY: This study determined that a shortened form of the Social Responsiveness Scale, Second Edition (SRS-2) shows both promise and limitations for the characterization of autism symptomatology in individuals with Phelan-McDermid syndrome (PMS), a population characterized by intellectual disability (ID). Caution should be used when interpreting SRS-2 scores in individuals with ID and future research should modify existing items and develop new items to improve the SRS-2's ability to accurately characterize autism symptomatology in PMS. Autism Res 2020, 13: 1383-1396. © 2020 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.2299 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=430

Social visual attentional engagement and memory in Phelan-McDermid syndrome and autism spectrum disorder: a pilot eye tracking study / Sylvia B. GUILLORY in Journal of Neurodevelopmental Disorders, 13 (2021)  

Public ISBD [article]  inJournal of Neurodevelopmental Disorders > 13 (2021) Titre : Social visual attentional engagement and memory in Phelan-McDermid syndrome and autism spectrum disorder: a pilot eye tracking study Type de document : texte imprimé Auteurs : Sylvia B. GUILLORY, Auteur ; Victoria Z. BASKETT, Auteur ; Hannah E. GROSMAN, Auteur ; Christopher S. MCLAUGHLIN, Auteur ; Emily L. ISENSTEIN, Auteur ; Emma WILKINSON, Auteur ; Jordana WEISSMAN, Auteur ; Bari BRITVAN, Auteur ; M. Pilar TRELLES, Auteur ; Danielle B. HALPERN, Auteur ; Joseph D. BUXBAUM, Auteur ; Paige M. SIPER, Auteur ; A. Ting WANG, Auteur ; Alexander KOLEVZON, Auteur ; Jennifer H. FOSS-FEIG, Auteur Langues : Anglais (eng) Mots-clés : Attention  Autism Spectrum Disorder/genetics  Chromosome Deletion  Chromosome Disorders/complications/genetics  Chromosomes, Human, Pair 22  Eye-Tracking Technology  Humans  Autism spectrum disorder  Eye tracking  Phelan-McDermid syndrome  Recognition memory  Social processing  Visual attention  Therapeutics, and sema4. All other authors declare that they have no competing  interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: The current study used eye tracking to investigate attention and recognition memory in Phelan-McDermid syndrome (PMS), a rare genetic disorder characterized by intellectual disability, motor delays, and a high likelihood of comorbid autism spectrum disorder (ASD). Social deficits represent a core feature of ASD, including decreased propensity to orient to or show preference for social stimuli. METHODS: We used a visual paired-comparison task with both social and non-social images, assessing looking behavior to a novel image versus a previously viewed familiar image to characterize social attention and recognition memory in PMS (n = 22), idiopathic ASD (iASD, n = 38), and typically developing (TD) controls (n = 26). The idiopathic ASD cohort was divided into subgroups with intellectual disabilities (ID; developmental quotient < 70) and without (developmental quotient > 70) and the PMS group into those with and without a co-morbid ASD diagnosis. RESULTS: On measures of attention, the PMS group with a comorbid ASD diagnosis spent less time viewing the social images compared to non-social images; the rate of looking back and forth between images was lowest in the iASD with ID group. Furthermore, while all groups demonstrated intact recognition memory when novel non-social stimuli were initially presented (pre-switch), participants with PMS showed no preference during the post-switch memory presentation. In iASD, the group without ID, but not the group with ID, showed a novelty preference for social stimuli. Across indices, individuals with PMS and ASD performed more similarly to PMS without ASD and less similarly to the iASD group. CONCLUSION: These findings demonstrate further evidence of differences in attention and memory for social stimuli in ASD and provide contrasts between iASD and PMS. En ligne : https://dx.doi.org/10.1186/s11689-021-09400-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574 [article] Social visual attentional engagement and memory in Phelan-McDermid syndrome and autism spectrum disorder: a pilot eye tracking study [texte imprimé] / Sylvia B. GUILLORY, Auteur ; Victoria Z. BASKETT, Auteur ; Hannah E. GROSMAN, Auteur ; Christopher S. MCLAUGHLIN, Auteur ; Emily L. ISENSTEIN, Auteur ; Emma WILKINSON, Auteur ; Jordana WEISSMAN, Auteur ; Bari BRITVAN, Auteur ; M. Pilar TRELLES, Auteur ; Danielle B. HALPERN, Auteur ; Joseph D. BUXBAUM, Auteur ; Paige M. SIPER, Auteur ; A. Ting WANG, Auteur ; Alexander KOLEVZON, Auteur ; Jennifer H. FOSS-FEIG, Auteur. Langues : Anglais (eng) in Journal of Neurodevelopmental Disorders > 13 (2021) Mots-clés : Attention  Autism Spectrum Disorder/genetics  Chromosome Deletion  Chromosome Disorders/complications/genetics  Chromosomes, Human, Pair 22  Eye-Tracking Technology  Humans  Autism spectrum disorder  Eye tracking  Phelan-McDermid syndrome  Recognition memory  Social processing  Visual attention  Therapeutics, and sema4. All other authors declare that they have no competing  interests. Index. décimale : PER Périodiques Résumé : BACKGROUND: The current study used eye tracking to investigate attention and recognition memory in Phelan-McDermid syndrome (PMS), a rare genetic disorder characterized by intellectual disability, motor delays, and a high likelihood of comorbid autism spectrum disorder (ASD). Social deficits represent a core feature of ASD, including decreased propensity to orient to or show preference for social stimuli. METHODS: We used a visual paired-comparison task with both social and non-social images, assessing looking behavior to a novel image versus a previously viewed familiar image to characterize social attention and recognition memory in PMS (n = 22), idiopathic ASD (iASD, n = 38), and typically developing (TD) controls (n = 26). The idiopathic ASD cohort was divided into subgroups with intellectual disabilities (ID; developmental quotient < 70) and without (developmental quotient > 70) and the PMS group into those with and without a co-morbid ASD diagnosis. RESULTS: On measures of attention, the PMS group with a comorbid ASD diagnosis spent less time viewing the social images compared to non-social images; the rate of looking back and forth between images was lowest in the iASD with ID group. Furthermore, while all groups demonstrated intact recognition memory when novel non-social stimuli were initially presented (pre-switch), participants with PMS showed no preference during the post-switch memory presentation. In iASD, the group without ID, but not the group with ID, showed a novelty preference for social stimuli. Across indices, individuals with PMS and ASD performed more similarly to PMS without ASD and less similarly to the iASD group. CONCLUSION: These findings demonstrate further evidence of differences in attention and memory for social stimuli in ASD and provide contrasts between iASD and PMS. En ligne : https://dx.doi.org/10.1186/s11689-021-09400-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=574

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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