Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome

Abstract Background Phelan McDermid syndrome (PMS) is a neurogenetic condition associated with a high prevalence of intellectual disability (ID) and autism spectrum disorder (ASD). This study provides a more comprehensive and quantitative profile of repetitive behaviors within the context of ID seen...

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Autores principales:	Siddharth Srivastava, Emma Condy, Erin Carmody, Rajna Filip-Dhima, Kush Kapur, Jonathan A. Bernstein, Elizabeth Berry-Kravis, Craig M. Powell, Latha Soorya, Audrey Thurm, Joseph D. Buxbaum, Mustafa Sahin, Alexander Kolevzon, on behalf of Developmental Synaptopathies Consortium
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	SHANK3 Intellectual disability 22q13 deletion Repetitive behavior Stereotypy Autism Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571
Acceso en línea:	https://doaj.org/article/b343de3b427f461080af3528ec428f99
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spelling	oai:doaj.org-article:b343de3b427f461080af3528ec428f992021-11-07T12:04:34ZParent-reported measure of repetitive behavior in Phelan-McDermid syndrome10.1186/s11689-021-09398-71866-19471866-1955https://doaj.org/article/b343de3b427f461080af3528ec428f992021-11-01T00:00:00Zhttps://doi.org/10.1186/s11689-021-09398-7https://doaj.org/toc/1866-1947https://doaj.org/toc/1866-1955Abstract Background Phelan McDermid syndrome (PMS) is a neurogenetic condition associated with a high prevalence of intellectual disability (ID) and autism spectrum disorder (ASD). This study provides a more comprehensive and quantitative profile of repetitive behaviors within the context of ID seen with the condition. Methods Individuals age 3–21 years with a confirmed PMS diagnosis participated in a multicenter observational study evaluating the phenotype and natural history of the disorder. We evaluated data collected from this study pertaining to repetitive behaviors from the Repetitive Behavior Scales-Revised (RBS-R). Results There were n = 90 participants who were part of this analysis. Forty-seven percent (n = 42/90) were female, and the average age at baseline evaluation was 8.88 ± 4.72 years. The mean best estimate IQ of the cohort was 26.08 ± 17.67 (range = 3.4–88), with n = 8 with mild ID (or no ID), n = 20 with moderate ID, and n = 62 with severe-profound ID. The RBS-R total overall score was 16.46 ± 13.9 (compared to 33.14 ± 20.60 reported in previous studies of ASD) (Lam and Aman, 2007), and the total number of items endorsed was 10.40 ± 6.81 (range = 0–29). After statistical correction for multiple comparisons, IQ correlated with the RBS-R stereotypic behavior subscale score (r s = − 0.33, unadjusted p = 0.0014, adjusted p = 0.01) and RBS-R stereotypic behavior total number of endorsed items (r s = − 0.32, unadjusted p = 0.0019, adjusted p = 0.01). IQ did not correlate with any other RBS-R subscale scores. Conclusions The RBS-R total overall score in a PMS cohort appears milder compared to individuals with ASD characterized in previous studies. Stereotypic behavior in PMS may reflect cognitive functioning.Siddharth SrivastavaEmma CondyErin CarmodyRajna Filip-DhimaKush KapurJonathan A. BernsteinElizabeth Berry-KravisCraig M. PowellLatha SooryaAudrey ThurmJoseph D. BuxbaumMustafa SahinAlexander Kolevzonon behalf of Developmental Synaptopathies ConsortiumBMCarticleSHANK3Intellectual disability22q13 deletionRepetitive behaviorStereotypyAutismNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571ENJournal of Neurodevelopmental Disorders, Vol 13, Iss 1, Pp 1-12 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	SHANK3 Intellectual disability 22q13 deletion Repetitive behavior Stereotypy Autism Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571
spellingShingle	SHANK3 Intellectual disability 22q13 deletion Repetitive behavior Stereotypy Autism Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Siddharth Srivastava Emma Condy Erin Carmody Rajna Filip-Dhima Kush Kapur Jonathan A. Bernstein Elizabeth Berry-Kravis Craig M. Powell Latha Soorya Audrey Thurm Joseph D. Buxbaum Mustafa Sahin Alexander Kolevzon on behalf of Developmental Synaptopathies Consortium Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome
description	Abstract Background Phelan McDermid syndrome (PMS) is a neurogenetic condition associated with a high prevalence of intellectual disability (ID) and autism spectrum disorder (ASD). This study provides a more comprehensive and quantitative profile of repetitive behaviors within the context of ID seen with the condition. Methods Individuals age 3–21 years with a confirmed PMS diagnosis participated in a multicenter observational study evaluating the phenotype and natural history of the disorder. We evaluated data collected from this study pertaining to repetitive behaviors from the Repetitive Behavior Scales-Revised (RBS-R). Results There were n = 90 participants who were part of this analysis. Forty-seven percent (n = 42/90) were female, and the average age at baseline evaluation was 8.88 ± 4.72 years. The mean best estimate IQ of the cohort was 26.08 ± 17.67 (range = 3.4–88), with n = 8 with mild ID (or no ID), n = 20 with moderate ID, and n = 62 with severe-profound ID. The RBS-R total overall score was 16.46 ± 13.9 (compared to 33.14 ± 20.60 reported in previous studies of ASD) (Lam and Aman, 2007), and the total number of items endorsed was 10.40 ± 6.81 (range = 0–29). After statistical correction for multiple comparisons, IQ correlated with the RBS-R stereotypic behavior subscale score (r s = − 0.33, unadjusted p = 0.0014, adjusted p = 0.01) and RBS-R stereotypic behavior total number of endorsed items (r s = − 0.32, unadjusted p = 0.0019, adjusted p = 0.01). IQ did not correlate with any other RBS-R subscale scores. Conclusions The RBS-R total overall score in a PMS cohort appears milder compared to individuals with ASD characterized in previous studies. Stereotypic behavior in PMS may reflect cognitive functioning.
format	article
author	Siddharth Srivastava Emma Condy Erin Carmody Rajna Filip-Dhima Kush Kapur Jonathan A. Bernstein Elizabeth Berry-Kravis Craig M. Powell Latha Soorya Audrey Thurm Joseph D. Buxbaum Mustafa Sahin Alexander Kolevzon on behalf of Developmental Synaptopathies Consortium
author_facet	Siddharth Srivastava Emma Condy Erin Carmody Rajna Filip-Dhima Kush Kapur Jonathan A. Bernstein Elizabeth Berry-Kravis Craig M. Powell Latha Soorya Audrey Thurm Joseph D. Buxbaum Mustafa Sahin Alexander Kolevzon on behalf of Developmental Synaptopathies Consortium
author_sort	Siddharth Srivastava
title	Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome
title_short	Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome
title_full	Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome
title_fullStr	Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome
title_full_unstemmed	Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome
title_sort	parent-reported measure of repetitive behavior in phelan-mcdermid syndrome
publisher	BMC
publishDate	2021
url	https://doaj.org/article/b343de3b427f461080af3528ec428f99
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Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome

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