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Auteur Paige SIPER |
Documents disponibles écrits par cet auteur (3)
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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)
[article]
Titre : Genetic and epigenetic signatures associated with plasma oxytocin levels in children and adolescents with autism spectrum disorder Type de document : Texte imprimé et/ou numérique 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 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
in Autism Research > 16-3 (March 2023) . - p.502-523[article] Genetic and epigenetic signatures associated with plasma oxytocin levels in children and adolescents with autism spectrum disorder [Texte imprimé et/ou numérique] / 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 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)
[article]
Titre : Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome Type de document : Texte imprimé et/ou numérique Auteurs : Kellie GERGOUDIS, Auteur ; Alan WEINBERG, Auteur ; Jonathan TEMPLIN, Auteur ; Cristan FARMER, Auteur ; Alison DURKIN, Auteur ; Jordana WEISSMAN, Auteur ; Paige SIPER, Auteur ; Jennifer 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
in Autism Research > 13-8 (August 2020) . - p.1383-1396[article] Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome [Texte imprimé et/ou numérique] / Kellie GERGOUDIS, Auteur ; Alan WEINBERG, Auteur ; Jonathan TEMPLIN, Auteur ; Cristan FARMER, Auteur ; Alison DURKIN, Auteur ; Jordana WEISSMAN, Auteur ; Paige SIPER, Auteur ; Jennifer 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 A Simplified Diagnostic Observational Assessment of Autism Spectrum Disorder in Early Childhood / David GRODBERG in Autism Research, 9-4 (April 2016)
[article]
Titre : A Simplified Diagnostic Observational Assessment of Autism Spectrum Disorder in Early Childhood Type de document : Texte imprimé et/ou numérique Auteurs : David GRODBERG, Auteur ; Paige SIPER, Auteur ; Jesslyn JAMISON, Auteur ; Joseph D. BUXBAUM, Auteur ; Alexander KOLEVZON, Auteur Article en page(s) : p.443-449 Langues : Anglais (eng) Mots-clés : Autism diagnosis Autism mental status exam Observational assessment Index. décimale : PER Périodiques Résumé : Subspecialty physicians who have expertise in the diagnosis of autism spectrum disorder typically do not have the resources to administer comprehensive diagnostic observational assessments for patients suspected of ASD. The autism mental status exam (AMSE) is a free and brief eight-item observation tool that addresses this practice gap. The AMSE, designed by Child and Adolescent Psychiatrists, Developmental Behavioral Pediatricians and Pediatric Neurologists structures the observation and documentation of signs and symptoms of ASD and yields a score. Excellent sensitivity and specificity was demonstrated in a population of high-risk adults. This protocol now investigates the AMSE's test performance in a population of 45 young children age 18 months to 5 years with suspected ASD or social and communication concerns who are evaluated at an autism research center. Each subject received a developmental evaluation, including the AMSE, performed by a Child and Adolescent Psychiatrist, that was followed by independent standardized assessment using the Autism Diagnostic Observation Schedule and the Autism Diagnostic Interview-Revised. A Best Estimate Diagnosis protocol used DSM-5 criteria to ascertain a diagnosis of ASD or non-ASD. Receiver operating characteristic curve analysis was used to determine the AMSE cut point with the highest sensitivity and specificity. Findings indicate an optimized sensitivity of 94% and a specificity of 100% for this high prevalence group. Because of its high classification accuracy in this sample of children the AMSE holds promise as a tool that can support both diagnostic decision making and standardize point of care observational assessment of ASD in high risk children. Autism Res 2016, 9: 443–449. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1539 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=287
in Autism Research > 9-4 (April 2016) . - p.443-449[article] A Simplified Diagnostic Observational Assessment of Autism Spectrum Disorder in Early Childhood [Texte imprimé et/ou numérique] / David GRODBERG, Auteur ; Paige SIPER, Auteur ; Jesslyn JAMISON, Auteur ; Joseph D. BUXBAUM, Auteur ; Alexander KOLEVZON, Auteur . - p.443-449.
Langues : Anglais (eng)
in Autism Research > 9-4 (April 2016) . - p.443-449
Mots-clés : Autism diagnosis Autism mental status exam Observational assessment Index. décimale : PER Périodiques Résumé : Subspecialty physicians who have expertise in the diagnosis of autism spectrum disorder typically do not have the resources to administer comprehensive diagnostic observational assessments for patients suspected of ASD. The autism mental status exam (AMSE) is a free and brief eight-item observation tool that addresses this practice gap. The AMSE, designed by Child and Adolescent Psychiatrists, Developmental Behavioral Pediatricians and Pediatric Neurologists structures the observation and documentation of signs and symptoms of ASD and yields a score. Excellent sensitivity and specificity was demonstrated in a population of high-risk adults. This protocol now investigates the AMSE's test performance in a population of 45 young children age 18 months to 5 years with suspected ASD or social and communication concerns who are evaluated at an autism research center. Each subject received a developmental evaluation, including the AMSE, performed by a Child and Adolescent Psychiatrist, that was followed by independent standardized assessment using the Autism Diagnostic Observation Schedule and the Autism Diagnostic Interview-Revised. A Best Estimate Diagnosis protocol used DSM-5 criteria to ascertain a diagnosis of ASD or non-ASD. Receiver operating characteristic curve analysis was used to determine the AMSE cut point with the highest sensitivity and specificity. Findings indicate an optimized sensitivity of 94% and a specificity of 100% for this high prevalence group. Because of its high classification accuracy in this sample of children the AMSE holds promise as a tool that can support both diagnostic decision making and standardize point of care observational assessment of ASD in high risk children. Autism Res 2016, 9: 443–449. © 2015 International Society for Autism Research, Wiley Periodicals, Inc. En ligne : http://dx.doi.org/10.1002/aur.1539 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=287