Genomic disorders result from rearrangement of the human genome. Most genomic disorders are caused by copy number variants (CNV), deletions or duplications of several hundred kilobases. Many CNV loci are associated with autism, schizophrenia, and most commonly, intellectual disability (ID). However, there is little comparison of cognitive ability measures across these CNV disorders. This study aims to understand whether existing data can be leveraged for a cross-comparison of cognitive ability among multiple CNV. We found there is a lack of harmonization among assessment instruments and little standardization for reporting summary data across studies. Despite these limitations, we identified a differential impact of CNV loci on cognitive ability. Our data suggest that future cross-comparisons of CNV disorders will reveal meaningful differences across the phenotypic spectrum, especially if standardized phenotypic assessment is achieved.

中文翻译：

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跨 8 种基因组疾病的认知能力的交叉比较。

基因组疾病是人类基因组重排的结果。大多数基因组疾病是由数百千碱基的拷贝数变异 (CNV)、缺失或重复引起的。许多 CNV 基因座与自闭症、精神分裂症以及最常见的智力障碍 (ID) 相关。然而，这些 CNV 疾病的认知能力测量值几乎没有比较。本研究旨在了解是否可以利用现有数据对多个 CNV 之间的认知能力进行交叉比较。我们发现评估工具之间缺乏统一，并且在报告跨研究的汇总数据方面几乎没有标准化。尽管有这些限制，我们发现 CNV 基因座对认知能力的不同影响。