A study published in the Journal of Neurodevelopmental Disorders evaluates the role of parental cognitive profiling in understanding the genetic causes of developmental differences. It introduces a method to assess how cognitive abilities correlate within families, focusing on three groups: adults with de novo 22q11.2 microdeletion, probands with inherited 15q11.2 deletions, and those with rare copy number variants (CNVs) classified as variants of uncertain significance (VUS).

Cognitive testing was conducted using standardized IQ assessments, and intrafamily concordance was analyzed. Results showed significant discordance in full-scale IQ between probands and their parents in the 22q11.2 cohort, with a notable effect on non-verbal performance. In families with the inherited 15q11.2 deletion, cognitive abilities did not consistently align, indicating variable expression. Among the CNVUS group, many parents exhibited borderline to mild intellectual disabilities, and only a small fraction showed cognitive concordance with their children. The study found potential for reclassifying CNVs based on parental cognitive data, suggesting it could aid in understanding inherited variants and improving genetic counseling.