A review of neurocognitive functioning and risk for psychopathology in sex chromosome trisomy (47,XXY, 47,XXX, 47, XYY).
A review of neurocognitive functioning and risk for psychopathology in sex chromosome trisomy (47,XXY, 47,XXX, 47, XYY).
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DOI：
10.1097/yco.0000000000000471
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发表时间：
2019-03
影响因子：
6.9
通讯作者：
S. van Rijn
中科院分区：
文献类型：
--
作者：
S. van Rijn
综述目的大约每650-1000名儿童中就有一名出生时带有额外的X或Y染色体，称为性染色体三体(SCT)。研究SCT可能会揭示神经发育途径中潜在的神经行为问题和精神病理学的独特见解。随着最近无创性产前筛查的引入，临床上也需要更多关于SCT表型的知识。最近的研究结果表明，精神病理学的易感性增加，如自闭症谱系障碍、注意力缺陷/多动障碍、焦虑、抑郁，以及较轻程度的精神障碍。虽然传统上主要关注的是语言和学习问题，但最近的研究表明，执行功能、社会认知和情绪调节方面的障碍也可能是神经行为问题风险的关键因素。内容提要SCT的研究领域需要一个更纵向的视角来识别“危险”发展的早期标志物，并评估早期干预的有效性。向神经发育受损发出信号的神经认知标记物可能被证明在这方面有帮助。SCT表型的变异性提供了一个独特的机会，不仅可以确定影响神经发育结果的遗传因素，还可以确定环境因素，这要求研究重点放在理解个体差异上。
PURPOSE OF REVIEW About one in 650-1000 children is born with an extra X or Y chromosome, referred to as sex chromosome trisomies (SCTs). Studying SCTs may uncover unique insights in neurodevelopmental pathways underlying the risk for neurobehavioral problems and psychopathology. There is also a clinical need for more knowledge about the phenotype of SCT with the recent introduction of noninvasive prenatal screening. RECENT FINDINGS The reviewed studies illustrate an increased vulnerability for psychopathology such as (symptoms of) autism spectrum disorder, attention-deficit/hyperactivity disorder, anxiety, depression and, to a lesser degree, psychotic disorders. Although traditionally the primary focus has been on language and learning problems, recent research suggests that impairments in executive functioning, social cognition and emotion regulation may also be key factors underlying the risk for neurobehavioral problems. SUMMARY The research field of SCT is in need of a more longitudinal perspective to identify early markers of 'at risk' development, and to assess the effectiveness of early interventions. Neurocognitive markers that signal compromised neurodevelopment may prove to be helpful in this. Variability in the SCT phenotype provides a unique opportunity to identify not only genetic but also environmental factors that shape neurodevelopmental outcome, calling for studies focused on understanding individual differences.