Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature
Identifieur interne : 000A33 ( Pmc/Curation ); précédent : 000A32; suivant : 000A34Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature
Auteurs : Caroline Demily [France] ; Alice Poisson [France] ; Elodie Peyroux [France] ; Valérie Gatellier [France] ; Alain Nicolas [France] ; Caroline Rigard [France] ; Caroline Schluth-Bolard [France] ; Damien Sanlaville [France] ; Massimiliano Rossi [France]Source :
- BMC Medical Genetics [ 1471-2350 ] ; 2017.
Abstract
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.
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).
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.
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DOI: 10.1186/s12881-017-0371-1
PubMed: 28137251
PubMed Central: 5282903
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last="Sanlaville">Damien Sanlaville</name><affiliation wicri:level="1"><nlm:aff id="Aff3">Centre de référence des anomalies du développement, Service de génétique, Hospices Civils de Lyon, & Centre de Recherche en Neurosciences de Lyon, Inserm U1028, UMR CNRS 5292, GENDEV Team, Lyon 1-Claude Bernard University, Bron, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de référence des anomalies du développement, Service de génétique, Hospices Civils de Lyon, & Centre de Recherche en Neurosciences de Lyon, Inserm U1028, UMR CNRS 5292, GENDEV Team, Lyon 1-Claude Bernard University, Bron</wicri:regionArea></affiliation></author><author><name sortKey="Rossi, Massimiliano" sort="Rossi, Massimiliano" uniqKey="Rossi M" first="Massimiliano" last="Rossi">Massimiliano Rossi</name><affiliation wicri:level="1"><nlm:aff id="Aff3">Centre de référence des anomalies du développement, Service de génétique, Hospices Civils de Lyon, & Centre de Recherche en Neurosciences de Lyon, Inserm U1028, UMR CNRS 5292, GENDEV Team, Lyon 1-Claude Bernard University, Bron, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de référence des anomalies du développement, Service de génétique, Hospices Civils de Lyon, & Centre de Recherche en Neurosciences de Lyon, Inserm U1028, UMR CNRS 5292, GENDEV Team, Lyon 1-Claude Bernard University, Bron</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">28137251</idno><idno type="pmc">5282903</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5282903</idno><idno type="RBID">PMC:5282903</idno><idno type="doi">10.1186/s12881-017-0371-1</idno><date when="2017">2017</date><idno type="wicri:Area/Pmc/Corpus">000A34</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000A34</idno><idno type="wicri:Area/Pmc/Curation">000A33</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000A33</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature</title><author><name sortKey="Demily, Caroline" sort="Demily, Caroline" uniqKey="Demily C" first="Caroline" last="Demily">Caroline Demily</name><affiliation wicri:level="1"><nlm:aff id="Aff1">GénoPsy, Centre for the Diagnosis and management of genetic psychiatric disorders, Centre Hospitalier le Vinatier and EDR-Psy team (CNRS & Lyon 1-Claude Bernard University), Lyon, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>GénoPsy, Centre for the Diagnosis and management of genetic psychiatric disorders, Centre Hospitalier le Vinatier and EDR-Psy team (CNRS & Lyon 1-Claude Bernard University), Lyon</wicri:regionArea></affiliation></author><author><name sortKey="Poisson, Alice" sort="Poisson, Alice" uniqKey="Poisson A" first="Alice" last="Poisson">Alice Poisson</name><affiliation wicri:level="1"><nlm:aff id="Aff1">GénoPsy, Centre for the Diagnosis and management of genetic psychiatric disorders, Centre Hospitalier le Vinatier and EDR-Psy team (CNRS & Lyon 1-Claude Bernard University), Lyon, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>GénoPsy, Centre for the Diagnosis and management of genetic psychiatric disorders, Centre Hospitalier le Vinatier and EDR-Psy team (CNRS & Lyon 1-Claude Bernard University), Lyon</wicri:regionArea></affiliation></author><author><name sortKey="Peyroux, Elodie" sort="Peyroux, Elodie" uniqKey="Peyroux E" first="Elodie" last="Peyroux">Elodie Peyroux</name><affiliation wicri:level="1"><nlm:aff id="Aff1">GénoPsy, Centre for the Diagnosis and management of genetic psychiatric disorders, Centre Hospitalier le Vinatier and EDR-Psy team (CNRS & Lyon 1-Claude Bernard University), Lyon, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>GénoPsy, Centre for the Diagnosis and management of genetic psychiatric disorders, Centre Hospitalier le Vinatier and EDR-Psy team (CNRS & Lyon 1-Claude Bernard University), Lyon</wicri:regionArea></affiliation></author><author><name sortKey="Gatellier, Valerie" sort="Gatellier, Valerie" uniqKey="Gatellier V" first="Valérie" last="Gatellier">Valérie Gatellier</name><affiliation wicri:level="1"><nlm:aff id="Aff1">GénoPsy, Centre for the Diagnosis and management of genetic psychiatric disorders, Centre Hospitalier le Vinatier and EDR-Psy team (CNRS & Lyon 1-Claude Bernard University), Lyon, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>GénoPsy, Centre for the Diagnosis and management of genetic psychiatric disorders, Centre Hospitalier le Vinatier and EDR-Psy team (CNRS & Lyon 1-Claude Bernard University), Lyon</wicri:regionArea></affiliation></author><author><name sortKey="Nicolas, Alain" sort="Nicolas, Alain" uniqKey="Nicolas A" first="Alain" last="Nicolas">Alain Nicolas</name><affiliation wicri:level="1"><nlm:aff id="Aff2"><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9479 661X</institution-id><institution-id institution-id-type="GRID">grid.420146.5</institution-id><institution></institution><institution>Unité Jouvet, Centre Hospitalier le Vinatier,</institution></institution-wrap>Bron, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Bron</wicri:regionArea></affiliation></author><author><name sortKey="Rigard, Caroline" sort="Rigard, Caroline" uniqKey="Rigard C" first="Caroline" last="Rigard">Caroline Rigard</name><affiliation wicri:level="1"><nlm:aff id="Aff1">GénoPsy, Centre for the Diagnosis and management of genetic psychiatric disorders, Centre Hospitalier le Vinatier and EDR-Psy team (CNRS & Lyon 1-Claude Bernard University), Lyon, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>GénoPsy, Centre for the Diagnosis and management of genetic psychiatric disorders, Centre Hospitalier le Vinatier and EDR-Psy team (CNRS & Lyon 1-Claude Bernard University), Lyon</wicri:regionArea></affiliation></author><author><name sortKey="Schluth Bolard, Caroline" sort="Schluth Bolard, Caroline" uniqKey="Schluth Bolard C" first="Caroline" last="Schluth-Bolard">Caroline Schluth-Bolard</name><affiliation wicri:level="1"><nlm:aff id="Aff3">Centre de référence des anomalies du développement, Service de génétique, Hospices Civils de Lyon, & Centre de Recherche en Neurosciences de Lyon, Inserm U1028, UMR CNRS 5292, GENDEV Team, Lyon 1-Claude Bernard University, Bron, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de référence des anomalies du développement, Service de génétique, Hospices Civils de Lyon, & Centre de Recherche en Neurosciences de Lyon, Inserm U1028, UMR CNRS 5292, GENDEV Team, Lyon 1-Claude Bernard University, Bron</wicri:regionArea></affiliation></author><author><name sortKey="Sanlaville, Damien" sort="Sanlaville, Damien" uniqKey="Sanlaville D" first="Damien" last="Sanlaville">Damien Sanlaville</name><affiliation wicri:level="1"><nlm:aff id="Aff3">Centre de référence des anomalies du développement, Service de génétique, Hospices Civils de Lyon, & Centre de Recherche en Neurosciences de Lyon, Inserm U1028, UMR CNRS 5292, GENDEV Team, Lyon 1-Claude Bernard University, Bron, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de référence des anomalies du développement, Service de génétique, Hospices Civils de Lyon, & Centre de Recherche en Neurosciences de Lyon, Inserm U1028, UMR CNRS 5292, GENDEV Team, Lyon 1-Claude Bernard University, Bron</wicri:regionArea></affiliation></author><author><name sortKey="Rossi, Massimiliano" sort="Rossi, Massimiliano" uniqKey="Rossi M" first="Massimiliano" last="Rossi">Massimiliano Rossi</name><affiliation wicri:level="1"><nlm:aff id="Aff3">Centre de référence des anomalies du développement, Service de génétique, Hospices Civils de Lyon, & Centre de Recherche en Neurosciences de Lyon, Inserm U1028, UMR CNRS 5292, GENDEV Team, Lyon 1-Claude Bernard University, Bron, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Centre de référence des anomalies du développement, Service de génétique, Hospices Civils de Lyon, & Centre de Recherche en Neurosciences de Lyon, Inserm U1028, UMR CNRS 5292, GENDEV Team, Lyon 1-Claude Bernard University, Bron</wicri:regionArea></affiliation></author></analytic><series><title level="j">BMC Medical Genetics</title><idno type="eISSN">1471-2350</idno><imprint><date when="2017">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Background</title><p>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.</p></sec><sec><title>Case presentation</title><p>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).</p></sec><sec><title>Conclusion</title><p>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.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Nielsen, J" uniqKey="Nielsen J">J Nielsen</name></author><author><name sortKey="Wohlert, M" uniqKey="Wohlert M">M Wohlert</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Margari, L" uniqKey="Margari L">L Margari</name></author><author><name sortKey="Lamana, Al" uniqKey="Lamana A">AL Lamana</name></author><author><name sortKey="Craig, F" uniqKey="Craig F">F Craig</name></author><author><name sortKey="Simone, M" uniqKey="Simone M">M Simone</name></author><author><name sortKey="Gentile, M" uniqKey="Gentile M">M Gentile</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Linden, Mg" 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sortKey="Coudrot, D" uniqKey="Coudrot D">D Coudrot</name></author></analytic></biblStruct></listBibl></div1></back></TEI><pmc article-type="case-report"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">BMC Med Genet</journal-id><journal-id journal-id-type="iso-abbrev">BMC Med. Genet</journal-id><journal-title-group><journal-title>BMC Medical Genetics</journal-title></journal-title-group><issn pub-type="epub">1471-2350</issn><publisher><publisher-name>BioMed Central</publisher-name><publisher-loc>London</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">28137251</article-id><article-id pub-id-type="pmc">5282903</article-id><article-id pub-id-type="publisher-id">371</article-id><article-id pub-id-type="doi">10.1186/s12881-017-0371-1</article-id><article-categories><subj-group subj-group-type="heading"><subject>Case Report</subject></subj-group></article-categories><title-group><article-title>Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature</article-title></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name><surname>Demily</surname><given-names>Caroline</given-names></name><address><phone>+33 4 37 91 51 63</phone><email>caroline.demily@ch-le-vinatier.fr</email></address><xref ref-type="aff" rid="Aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Poisson</surname><given-names>Alice</given-names></name><address><email>alice.poisson@ch-le-vinatier.fr</email></address><xref ref-type="aff" rid="Aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Peyroux</surname><given-names>Elodie</given-names></name><address><email>elodie.peyroux@ch-le-vinatier.fr</email></address><xref ref-type="aff" rid="Aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Gatellier</surname><given-names>Valérie</given-names></name><address><email>valerie.gatellier@ch-le-vinatier.fr</email></address><xref ref-type="aff" rid="Aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Nicolas</surname><given-names>Alain</given-names></name><address><email>alain.nicolas@ch-le-vinatier.fr</email></address><xref ref-type="aff" rid="Aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Rigard</surname><given-names>Caroline</given-names></name><address><email>caroline.rigard@ch-le-vinatier.fr</email></address><xref ref-type="aff" rid="Aff1">1</xref></contrib><contrib contrib-type="author"><name><surname>Schluth-Bolard</surname><given-names>Caroline</given-names></name><address><email>caroline.schlutz-bolard@chu-lyon.fr</email></address><xref ref-type="aff" rid="Aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Sanlaville</surname><given-names>Damien</given-names></name><address><email>damien.sanlaville@chu-lyon.fr</email></address><xref ref-type="aff" rid="Aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Rossi</surname><given-names>Massimiliano</given-names></name><address><email>massimiliano.rossi01@chu-lyon.fr</email></address><xref ref-type="aff" rid="Aff3">3</xref></contrib><aff id="Aff1"><label>1</label>GénoPsy, Centre for the Diagnosis and management of genetic psychiatric disorders, Centre Hospitalier le Vinatier and EDR-Psy team (CNRS & Lyon 1-Claude Bernard University), Lyon, France</aff><aff id="Aff2"><label>2</label><institution-wrap><institution-id institution-id-type="ISNI">0000 0000 9479 661X</institution-id><institution-id institution-id-type="GRID">grid.420146.5</institution-id><institution></institution><institution>Unité Jouvet, Centre Hospitalier le Vinatier,</institution></institution-wrap>Bron, France</aff><aff id="Aff3"><label>3</label>Centre de référence des anomalies du développement, Service de génétique, Hospices Civils de Lyon, & Centre de Recherche en Neurosciences de Lyon, Inserm U1028, UMR CNRS 5292, GENDEV Team, Lyon 1-Claude Bernard University, Bron, France</aff></contrib-group><pub-date pub-type="epub"><day>31</day><month>1</month><year>2017</year></pub-date><pub-date pub-type="pmc-release"><day>31</day><month>1</month><year>2017</year></pub-date><pub-date pub-type="collection"><year>2017</year></pub-date><volume>18</volume><elocation-id>9</elocation-id><history><date date-type="received"><day>16</day><month>4</month><year>2016</year></date><date date-type="accepted"><day>20</day><month>1</month><year>2017</year></date></history><permissions><copyright-statement>© The Author(s). 2017</copyright-statement><license license-type="OpenAccess"><license-p><bold>Open Access</bold>This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by/4.0/">http://creativecommons.org/licenses/by/4.0/</ext-link>), 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 (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/publicdomain/zero/1.0/">http://creativecommons.org/publicdomain/zero/1.0/</ext-link>) applies to the data made available in this article, unless otherwise stated.</license-p></license></permissions><abstract id="Abs1"><sec><title>Background</title><p>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.</p></sec><sec><title>Case presentation</title><p>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).</p></sec><sec><title>Conclusion</title><p>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.</p></sec></abstract><kwd-group xml:lang="en"><title>Keywords</title><kwd>XYYYY</kwd><kwd>Autism spectrum disorder</kwd><kwd>Social cognition</kwd><kwd>Neurocognition</kwd><kwd>Behavioural disorders</kwd></kwd-group><custom-meta-group><custom-meta><meta-name>issue-copyright-statement</meta-name><meta-value>© The Author(s) 2017</meta-value></custom-meta></custom-meta-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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