Sex chromosome aneuploidies (SCA) are associated with an increased risk for specific learning disorders (SLD). Individuals with Klinefelter Syndrome (KS) show an increased incidence of developmental dyslexia and individuals with Turner Syndrome (TS) are often affected by developmental dyscalculia. Accordingly, KS frequently coincides with verbal deficits, and TS with visual–spatial impairments. Though neurocognitive profiles of KS and TS are well‐established, little is known about the neurobiology underling learning in SCA. This review summarizes current structural and functional magnetic resonance imaging (MRI) studies in KS and TS related to literacy and mathematical skills. It includes studies that focus on correlates between brain anatomy and cognition in SCA and on functional brain responses during learning‐related tasks and at rest. We highlight important neural circuits that are related to domain‐specific skills of literacy and mathematics. We discuss how identifying neuroendophenotypes of learning in SCA might contribute to developing a novel framework for SLD that accounts for potential genetic effects on learning, and from the X and Y chromosomes specifically. Future research directions are considered to establish clear brain‐behavior relationships that might ultimately improve the treatment of SLD in SCA across development.

中文翻译：

---

性染色体非整倍性中的特定学习障碍：素养和数学的神经回路。

性染色体非整倍性（SCA）与特定学习障碍（SLD）的风险增加有关。克莱恩费尔特氏综合症（KS）的个体显示出发展性阅读障碍的发生率增加，而特纳氏综合症（TS）的个体经常受到发育不良的影响。因此，KS经常与言语缺陷并存，TS则伴有视觉空间障碍。尽管KS和TS的神经认知特征已经确立，但对SCA中学习基础的神经生物学知之甚少。这篇综述总结了目前在KS和TS中与识字和数学技能有关的结构和功能磁共振成像（MRI）研究。它包括专注于SCA中的大脑解剖结构与认知之间的相关性以及与学习相关的任务和休息期间的功能性大脑反应的相关研究。我们重点介绍与特定领域的识字和数学技能相关的重要神经回路。我们讨论了在SCA中识别学习的神经内表型如何有助于开发SLD的新框架，该框架解释了对学习的潜在遗传影响，特别是X和Y染色体的遗传影响。考虑到未来的研究方向，以建立清晰的大脑与行为的关系，从而可能最终改善整个发展过程中SCA中SLD的治疗。