Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature.
Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature.
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自闭症谱系障碍与49，Xyyyy：案例报告和文献综述。
DOI：
10.1186/s12881-017-0371-1
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发表时间：
2017-01-31
影响因子：
--
通讯作者：
Rossi M
中科院分区：
文献类型：
--
作者：
Demily C;Poisson A;Peyroux E;Gatellier V;Nicolas A;Rigard C;Schluth-Bolard C;Sanlaville D;Rossi M
性染色体非整倍体的发生率约为1 / 420。最常见的异常是45，X （Turner综合征），47,XXX (triple X), 47,XXY （Klinefelter综合征）和47，XYY。男性多出一条性染色体（如48，XXYY或48，XXXY）的发生率较低。然而，文献提供的关于认知和行为表型和疾病的自然史的信息很少。我们报告临床，神经认知，社会认知和精神病学的特点患者49xyyyy综合征。患者表现出复杂的表型，包括智力缺陷和自闭症谱系障碍（ASD）的特殊认知特征，兴趣有限。此外，观察到社交焦虑障碍合并选择性缄默症和分离焦虑障碍（DSM-5标准，MINI评估）。现在人们承认，XYYYY具有独特的医学、神经发育和行为特征。有趣的是，自闭症谱系障碍在Y染色体非整倍体人群中更为常见。该临床报告表明，了解这些患者的认知和社会功能可能为可能的治疗策略提供新的见解，如认知补救或社会认知训练。
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.