Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature
Identifieur interne : 000759 ( Main/Exploration ); précédent : 000758; suivant : 000760Autism 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.
Url:
DOI: 10.1186/s12881-017-0371-1
PubMed: 28137251
PubMed Central: 5282903
Affiliations:
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Le document en format XML
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<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>
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</TEI>
<affiliations><list><country><li>France</li>
</country>
<region><li>Auvergne-Rhône-Alpes</li>
<li>Rhône-Alpes</li>
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<settlement><li>Lyon</li>
</settlement>
</list>
<tree><country name="France"><region name="Auvergne-Rhône-Alpes"><name sortKey="Demily, Caroline" sort="Demily, Caroline" uniqKey="Demily C" first="Caroline" last="Demily">Caroline Demily</name>
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<name sortKey="Gatellier, Valerie" sort="Gatellier, Valerie" uniqKey="Gatellier V" first="Valérie" last="Gatellier">Valérie Gatellier</name>
<name sortKey="Nicolas, Alain" sort="Nicolas, Alain" uniqKey="Nicolas A" first="Alain" last="Nicolas">Alain Nicolas</name>
<name sortKey="Peyroux, Elodie" sort="Peyroux, Elodie" uniqKey="Peyroux E" first="Elodie" last="Peyroux">Elodie Peyroux</name>
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<name sortKey="Rigard, Caroline" sort="Rigard, Caroline" uniqKey="Rigard C" first="Caroline" last="Rigard">Caroline Rigard</name>
<name sortKey="Rossi, Massimiliano" sort="Rossi, Massimiliano" uniqKey="Rossi M" first="Massimiliano" last="Rossi">Massimiliano Rossi</name>
<name sortKey="Sanlaville, Damien" sort="Sanlaville, Damien" uniqKey="Sanlaville D" first="Damien" last="Sanlaville">Damien Sanlaville</name>
<name sortKey="Schluth Bolard, Caroline" sort="Schluth Bolard, Caroline" uniqKey="Schluth Bolard C" first="Caroline" last="Schluth-Bolard">Caroline Schluth-Bolard</name>
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</record>
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