Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature

BMC Medical Genetics

Case Report

Massimiliano Rossi¹  Caroline Schluth-Bolard¹  Damien Sanlaville¹  Alice Poisson²  Elodie Peyroux²  Valérie Gatellier²  Caroline Rigard²  Caroline Demily²  Alain Nicolas³ 

[1] 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;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;

关键词: XYYYY;    Autism spectrum disorder;    Social cognition;    Neurocognition;    Behavioural disorders;   

DOI  :  10.1186/s12881-017-0371-1

 received in 2016-04-16, accepted in 2017-01-20,  发布年份 2017

来源: Springer

【 摘 要 】

BackgroundSex 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 presentationThe 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).ConclusionIt 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.

【 授权许可】

CC BY   
© The Author(s). 2017