title: Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature.
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.
  
  
  METHODS
  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).
  
  
  CONCLUSIONS
  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.affiliation: 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.
authors.forename: Caroline
authors.initials: C
authors.lastname: Demily
authors.affiliation: 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.
authors.forename: Alice
authors.initials: A
authors.lastname: Poisson
authors.affiliation: 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.
authors.forename: Elodie
authors.initials: E
authors.lastname: Peyroux
authors.affiliation: 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.
authors.forename: Valérie
authors.initials: V
authors.lastname: Gatellier
authors.affiliation: Unité Jouvet, Centre Hospitalier le Vinatier, Bron, France.
authors.forename: Alain
authors.initials: A
authors.lastname: Nicolas
authors.affiliation: 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.
authors.forename: Caroline
authors.initials: C
authors.lastname: Rigard
authors.affiliation: 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.
authors.forename: Caroline
authors.initials: C
authors.lastname: Schluth-Bolard
authors.affiliation: 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.
authors.forename: Damien
authors.initials: D
authors.lastname: Sanlaville
authors.affiliation: 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.
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Rossi
mesh_terms: D000328:Adult; D000067877:Autism Spectrum Disorder / Q000235:genetics* / Q000523:psychology*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D006801:Humans; D008297:Male; D010641:Phenotype; D058670:Tetrasomy; D014424:Turner Syndrome
keywords: Autism spectrum disorder; Behavioural disorders; Neurocognition; Social cognition; XYYYY