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Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature.
BMC Med Genet. 2017 Jan 31; 18(1):9.BM

Abstract

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.

Authors+Show Affiliations

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. caroline.demily@ch-le-vinatier.fr.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.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.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.Unité Jouvet, Centre Hospitalier le Vinatier, Bron, France.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.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.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.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.

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

28137251

Citation

Demily, Caroline, et al. "Autism Spectrum Disorder Associated With 49,XYYYY: Case Report and Review of the Literature." BMC Medical Genetics, vol. 18, no. 1, 2017, p. 9.
Demily C, Poisson A, Peyroux E, et al. Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature. BMC Med Genet. 2017;18(1):9.
Demily, C., Poisson, A., Peyroux, E., Gatellier, V., Nicolas, A., Rigard, C., Schluth-Bolard, C., Sanlaville, D., & Rossi, M. (2017). Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature. BMC Medical Genetics, 18(1), 9. https://doi.org/10.1186/s12881-017-0371-1
Demily C, et al. Autism Spectrum Disorder Associated With 49,XYYYY: Case Report and Review of the Literature. BMC Med Genet. 2017 Jan 31;18(1):9. PubMed PMID: 28137251.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature. AU - Demily,Caroline, AU - Poisson,Alice, AU - Peyroux,Elodie, AU - Gatellier,Valérie, AU - Nicolas,Alain, AU - Rigard,Caroline, AU - Schluth-Bolard,Caroline, AU - Sanlaville,Damien, AU - Rossi,Massimiliano, Y1 - 2017/01/31/ PY - 2016/04/16/received PY - 2017/01/20/accepted PY - 2017/2/1/entrez PY - 2017/2/1/pubmed PY - 2017/5/19/medline KW - Autism spectrum disorder KW - Behavioural disorders KW - Neurocognition KW - Social cognition KW - XYYYY SP - 9 EP - 9 JF - BMC medical genetics JO - BMC Med Genet VL - 18 IS - 1 N2 - 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. SN - 1471-2350 UR - https://www.unboundmedicine.com/medline/citation/28137251/Autism_spectrum_disorder_associated_with_49XYYYY:_case_report_and_review_of_the_literature_ DB - PRIME DP - Unbound Medicine ER -