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Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature
BACKGROUND: Sex chromosome aneuploidies occur in approximately one in 420 live births. The most frequent abnormalities are 45,X (Turner syndrome), 47,XXX (triple X), 47,XXY (Klinefelter syndrome), and 47,XYY. The prevalence of males with more than one extra sex chromosome (e.g. 48,XXYY or 48,XXXY) i...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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BioMed Central
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5282903/ https://www.ncbi.nlm.nih.gov/pubmed/28137251 http://dx.doi.org/10.1186/s12881-017-0371-1 |
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author | Demily, Caroline Poisson, Alice Peyroux, Elodie Gatellier, Valérie Nicolas, Alain Rigard, Caroline Schluth-Bolard, Caroline Sanlaville, Damien Rossi, Massimiliano |
author_facet | Demily, Caroline Poisson, Alice Peyroux, Elodie Gatellier, Valérie Nicolas, Alain Rigard, Caroline Schluth-Bolard, Caroline Sanlaville, Damien Rossi, Massimiliano |
author_sort | Demily, Caroline |
collection | PubMed |
description | BACKGROUND: Sex chromosome aneuploidies occur in approximately one in 420 live births. The most frequent abnormalities are 45,X (Turner syndrome), 47,XXX (triple X), 47,XXY (Klinefelter syndrome), and 47,XYY. The prevalence of males with more than one extra sex chromosome (e.g. 48,XXYY or 48,XXXY) is less common. However, the literature provides little information about the cognitive and behavioural phenotype and the natural history of the disease. We report the clinical, neurocognitive, social cognitive and psychiatric characterization of a patient with 49,XYYYY syndrome. CASE PRESENTATION: The patient presented with a complex phenotype including a particular cognitive profile with intellectual deficiency and autism spectrum disorder (ASD) with limited interests. Moreover, social anxiety disorder with selective mutism and separation anxiety disorder were observed (DSM-5 criteria, MINI Assessment). CONCLUSION: It is now admitted that 49,XYYYY has unique medical, neurodevelopmental and behavioural characteristics. Interestingly, ASD is more common in groups with Y chromosome aneuploidy. This clinical report suggests that understanding the cognitive and social functioning of these patients may provide new insights into possible therapeutic strategies, as cognitive remediation or social cognitive training. |
format | Online Article Text |
id | pubmed-5282903 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2017 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-52829032017-02-03 Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature Demily, Caroline Poisson, Alice Peyroux, Elodie Gatellier, Valérie Nicolas, Alain Rigard, Caroline Schluth-Bolard, Caroline Sanlaville, Damien Rossi, Massimiliano BMC Med Genet Case Report BACKGROUND: Sex chromosome aneuploidies occur in approximately one in 420 live births. The most frequent abnormalities are 45,X (Turner syndrome), 47,XXX (triple X), 47,XXY (Klinefelter syndrome), and 47,XYY. The prevalence of males with more than one extra sex chromosome (e.g. 48,XXYY or 48,XXXY) is less common. However, the literature provides little information about the cognitive and behavioural phenotype and the natural history of the disease. We report the clinical, neurocognitive, social cognitive and psychiatric characterization of a patient with 49,XYYYY syndrome. CASE PRESENTATION: The patient presented with a complex phenotype including a particular cognitive profile with intellectual deficiency and autism spectrum disorder (ASD) with limited interests. Moreover, social anxiety disorder with selective mutism and separation anxiety disorder were observed (DSM-5 criteria, MINI Assessment). CONCLUSION: It is now admitted that 49,XYYYY has unique medical, neurodevelopmental and behavioural characteristics. Interestingly, ASD is more common in groups with Y chromosome aneuploidy. This clinical report suggests that understanding the cognitive and social functioning of these patients may provide new insights into possible therapeutic strategies, as cognitive remediation or social cognitive training. BioMed Central 2017-01-31 /pmc/articles/PMC5282903/ /pubmed/28137251 http://dx.doi.org/10.1186/s12881-017-0371-1 Text en © The Author(s). 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. |
spellingShingle | Case Report Demily, Caroline Poisson, Alice Peyroux, Elodie Gatellier, Valérie Nicolas, Alain Rigard, Caroline Schluth-Bolard, Caroline Sanlaville, Damien Rossi, Massimiliano Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature |
title | Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature |
title_full | Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature |
title_fullStr | Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature |
title_full_unstemmed | Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature |
title_short | Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature |
title_sort | autism spectrum disorder associated with 49,xyyyy: case report and review of the literature |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5282903/ https://www.ncbi.nlm.nih.gov/pubmed/28137251 http://dx.doi.org/10.1186/s12881-017-0371-1 |
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