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Examining the Overlap between Autism Spectrum Disorder and 22q11.2 Deletion Syndrome

22q11.2 deletion syndrome (22q11.2DS) is a genomic disorder reported to associate with autism spectrum disorders (ASDs) in 15–50% of cases; however, others suggest that individuals with 22q11.2DS present psychiatric or behavioral features associated with ASDs, but do not meet full criteria for ASD d...

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Autores principales: Ousley, Opal, Evans, A. Nichole, Fernandez-Carriba, Samuel, Smearman, Erica L., Rockers, Kimberly, Morrier, Michael J., Evans, David W., Coleman, Karlene, Cubells, Joseph
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5454981/
https://www.ncbi.nlm.nih.gov/pubmed/28524075
http://dx.doi.org/10.3390/ijms18051071
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author Ousley, Opal
Evans, A. Nichole
Fernandez-Carriba, Samuel
Smearman, Erica L.
Rockers, Kimberly
Morrier, Michael J.
Evans, David W.
Coleman, Karlene
Cubells, Joseph
author_facet Ousley, Opal
Evans, A. Nichole
Fernandez-Carriba, Samuel
Smearman, Erica L.
Rockers, Kimberly
Morrier, Michael J.
Evans, David W.
Coleman, Karlene
Cubells, Joseph
author_sort Ousley, Opal
collection PubMed
description 22q11.2 deletion syndrome (22q11.2DS) is a genomic disorder reported to associate with autism spectrum disorders (ASDs) in 15–50% of cases; however, others suggest that individuals with 22q11.2DS present psychiatric or behavioral features associated with ASDs, but do not meet full criteria for ASD diagnoses. Such wide variability in findings may arise in part due to methodological differences across studies. Our study sought to determine whether individuals with 22q11.2DS meet strict ASD diagnostic criteria using research-based guidelines from the Collaborative Programs of Excellence in Autism (CPEA), which required a gathering of information from three sources: the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observational Schedule (ADOS), and a clinician’s best-estimate diagnosis. Our study examined a cohort of children, adolescents, and young adults (n = 56) with 22q11.2DS, who were ascertained irrespective of parents’ behavioral or developmental concerns, and found that 17.9% (n = 10) of the participants met CPEA criteria for an ASD diagnosis, and that a majority showed some level of social-communication impairment or the presence of repetitive behaviors. We conclude that strictly defined ASDs occur in a substantial proportion of individuals with 22q11.2DS, and recommend that all individuals with 22q11.2DS be screened for ASDs during early childhood.
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spelling pubmed-54549812017-06-08 Examining the Overlap between Autism Spectrum Disorder and 22q11.2 Deletion Syndrome Ousley, Opal Evans, A. Nichole Fernandez-Carriba, Samuel Smearman, Erica L. Rockers, Kimberly Morrier, Michael J. Evans, David W. Coleman, Karlene Cubells, Joseph Int J Mol Sci Article 22q11.2 deletion syndrome (22q11.2DS) is a genomic disorder reported to associate with autism spectrum disorders (ASDs) in 15–50% of cases; however, others suggest that individuals with 22q11.2DS present psychiatric or behavioral features associated with ASDs, but do not meet full criteria for ASD diagnoses. Such wide variability in findings may arise in part due to methodological differences across studies. Our study sought to determine whether individuals with 22q11.2DS meet strict ASD diagnostic criteria using research-based guidelines from the Collaborative Programs of Excellence in Autism (CPEA), which required a gathering of information from three sources: the Autism Diagnostic Interview-Revised (ADI-R), the Autism Diagnostic Observational Schedule (ADOS), and a clinician’s best-estimate diagnosis. Our study examined a cohort of children, adolescents, and young adults (n = 56) with 22q11.2DS, who were ascertained irrespective of parents’ behavioral or developmental concerns, and found that 17.9% (n = 10) of the participants met CPEA criteria for an ASD diagnosis, and that a majority showed some level of social-communication impairment or the presence of repetitive behaviors. We conclude that strictly defined ASDs occur in a substantial proportion of individuals with 22q11.2DS, and recommend that all individuals with 22q11.2DS be screened for ASDs during early childhood. MDPI 2017-05-18 /pmc/articles/PMC5454981/ /pubmed/28524075 http://dx.doi.org/10.3390/ijms18051071 Text en © 2017 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Ousley, Opal
Evans, A. Nichole
Fernandez-Carriba, Samuel
Smearman, Erica L.
Rockers, Kimberly
Morrier, Michael J.
Evans, David W.
Coleman, Karlene
Cubells, Joseph
Examining the Overlap between Autism Spectrum Disorder and 22q11.2 Deletion Syndrome
title Examining the Overlap between Autism Spectrum Disorder and 22q11.2 Deletion Syndrome
title_full Examining the Overlap between Autism Spectrum Disorder and 22q11.2 Deletion Syndrome
title_fullStr Examining the Overlap between Autism Spectrum Disorder and 22q11.2 Deletion Syndrome
title_full_unstemmed Examining the Overlap between Autism Spectrum Disorder and 22q11.2 Deletion Syndrome
title_short Examining the Overlap between Autism Spectrum Disorder and 22q11.2 Deletion Syndrome
title_sort examining the overlap between autism spectrum disorder and 22q11.2 deletion syndrome
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5454981/
https://www.ncbi.nlm.nih.gov/pubmed/28524075
http://dx.doi.org/10.3390/ijms18051071
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