Sex chromosome aneuploidy (SCA) increases the risk for cognitive deficits, and confers changes in regional cortical thickness (CT) and surface area (SA). Neuroanatomical correlates of inter‐individual variation in cognitive ability have been described in health, but are not well‐characterized in SCA. Here, we modeled relationships between general cognitive ability (estimated using full‐scale IQ [FSIQ] from Wechsler scales) and regional estimates of SA and CT (from structural MRI scans) in both aneuploid (28 XXX, 55 XXY, 22 XYY, 19 XXYY) and typically‐developing euploid (79 XX, 85 XY) individuals. Results indicated widespread decoupling of normative anatomical–cognitive relationships in SCA: we found five regions where SCA significantly altered SA–FSIQ relationships, and five regions where SCA significantly altered CT–FSIQ relationships. The majority of areas were characterized by the presence of positive anatomy‐IQ relationships in health, but no or slightly negative anatomy‐IQ relationships in SCA. Disrupted anatomical–cognitive relationships generalized from the full cohort to karyotypically defined subcohorts (i.e., XX‐XXX; XY‐XYY; XY‐XXY), demonstrating continuity across multiple supernumerary SCA conditions. As the first direct evidence of altered regional neuroanatomical–cognitive relationships in supernumerary SCA, our findings shed light on potential genetic and structural correlates of the cognitive phenotype in SCA, and may have implications for other neurogenetic disorders.

中文翻译：

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性染色体非整倍体改变了神经解剖学和认知之间的关系。

性染色体非整倍体 (SCA) 会增加认知缺陷的风险，并导致区域皮质厚度 (CT) 和表面积 (SA) 发生变化。认知能力个体间差异的神经解剖学相关性已在健康中得到描述，但在 SCA 中并未得到很好的表征。在这里，我们模拟了非整倍体（28 XXX、55 XXY、22 XYY、19 XXYY）和典型发育的整倍体（79 XX，85 XY）个体。结果表明 SCA 中的规范解剖认知关系广泛脱钩：我们发现 SCA 显着改变 SA-FSIQ 关系的五个区域，以及 SCA 显着改变 CT-FSIQ 关系的五个区域。大多数区域的特点是在健康方面存在积极的解剖智商关系，但在 SCA 中没有或略微消极的解剖智商关系。从整个队列到核型定义的亚队列（即，XX-XXX；XY-XYY；XY-XXY）的破坏的解剖认知关系，证明了多个额外 SCA 条件的连续性。作为额外 SCA 中区域神经解剖学 - 认知关系改变的第一个直接证据，我们的研究结果揭示了 SCA 认知表型的潜在遗传和结构相关性，并可能对其他神经遗传疾病有影响。从整个队列到核型定义的亚队列（即，XX-XXX；XY-XYY；XY-XXY）的破坏的解剖认知关系，证明了多个额外 SCA 条件的连续性。作为额外 SCA 中区域神经解剖学 - 认知关系改变的第一个直接证据，我们的研究结果揭示了 SCA 认知表型的潜在遗传和结构相关性，并可能对其他神经遗传疾病有影响。从整个队列到核型定义的亚队列（即，XX-XXX；XY-XYY；XY-XXY）的破坏的解剖认知关系，证明了多个额外 SCA 条件的连续性。作为额外 SCA 中区域神经解剖学 - 认知关系改变的第一个直接证据，我们的研究结果揭示了 SCA 认知表型的潜在遗传和结构相关性，并可能对其他神经遗传疾病有影响。