Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature - CNRS - Centre national de la recherche scientifique Accéder directement au contenu
Article Dans Une Revue BMC Medical Genetics Année : 2017

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

Résumé

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.
Fichier principal
Vignette du fichier
s12881-017-0371-1.pdf (894.57 Ko) Télécharger le fichier
Origine : Publication financée par une institution
Loading...

Dates et versions

inserm-02305085 , version 1 (03-10-2019)

Identifiants

Citer

Caroline Demily, Alice Poisson, Elodie Peyroux, Valérie Gatellier, Alain Nicolas, et al.. Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature. BMC Medical Genetics, 2017, 18 (1), pp.9. ⟨10.1186/s12881-017-0371-1⟩. ⟨inserm-02305085⟩
325 Consultations
185 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More