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

Demily, Caroline ; Poisson, Alice ; Peyroux, Elodie ; Gatellier, Valérie ; Nicolas, Alain ; Rigard, Caroline ; Schluth-Bolard, Caroline ; Sanlaville, Damien ; Rossi, Massimiliano

BMC medical genetics, 2017-01, Vol.18 (1), p.9-9, Article 9 [Periódico revisado por pares]

England: BioMed Central Ltd

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Título:
Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature
Autor: Demily, Caroline ; Poisson, Alice ; Peyroux, Elodie ; Gatellier, Valérie ; Nicolas, Alain ; Rigard, Caroline ; Schluth-Bolard, Caroline ; Sanlaville, Damien ; Rossi, Massimiliano
Assuntos: Adult ; Anxiety disorders ; Autism ; Autism Spectrum Disorder - genetics ; Autism Spectrum Disorder - psychology ; Behavior ; Care and treatment ; Case Report ; Case studies ; Chromosomes, Human, Y - genetics ; Cognitive ability ; Communication ; Diagnosis ; Genetic aspects ; Genetics ; Human health and pathology ; Humans ; Intellectual disabilities ; Language ; Life Sciences ; Male ; Pervasive developmental disorders ; Phenotype ; Psychiatrics and mental health ; Sex chromosome abnormalities ; Sex chromosomes ; Standard scores ; Tetrasomy ; Turner Syndrome
É parte de: BMC medical genetics, 2017-01, Vol.18 (1), p.9-9, Article 9
Notas: ObjectType-Case Study-3
SourceType-Scholarly Journals-1
content type line 23
ObjectType-Review-1
ObjectType-Feature-5
ObjectType-Report-2
ObjectType-Article-4
PMCID: PMC5282903
Descrição: 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.
Editor: England: BioMed Central Ltd
Idioma: Inglês

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

Demily, Caroline ; Poisson, Alice ; Peyroux, Elodie ; Gatellier, Valérie ; Nicolas, Alain ; Rigard, Caroline ; Schluth-Bolard, Caroline ; Sanlaville, Damien ; Rossi, Massimiliano

England: BioMed Central Ltd

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