A cross-comparison of cognitive ability across 8 genomic disorders. (June 2021)

• Record Type: Journal Article
• Authors: Mortillo, Michael; Mulle, Jennifer G
• Is Part Of: Current opinion in genetics & development. Volume 68(2021)
• Page Start: 106
• Page End: 116
• Publication Date: 2021-06
• Subjects: Genetics -- Periodicals; Developmental biology -- Periodicals; Developmental genetics -- Periodicals; 576.5
• DOI: 10.1016/j.gde.2021.04.001
• Languages: English
• ISSNs: 0959-437X

Abstract

Abstract : 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.