Relationship between intelligence quotient measures and computerized neurocognitive performance in 22q11.2 deletion syndrome

Abstract

Intelligence quotient (IQ) testing is standard for evaluating cognitive abilities in genomic studies but requires professional expertise in administration and interpretation, and IQ scores do not translate into insights on implicated brain systems that can link genes to behavior. Individuals with 22q11.2 deletion syndrome (22q11.2DS) often undergo IQ testing to address special needs, but access to testing in resourcelimited settings is challenging. The brief Penn Computerized Neurocognitive Battery (CNB) provides measures of cognitive abilities related to brain systems and can screen for cognitive dysfunction. To examine the relation between CNB measures and IQ, we evaluated participants with the 22q11.2DS from Philadelphia and Tel Aviv (N = 117; 52 females; mean age 18.8) who performed both an IQ test and the CNB with a maximum of 5 years between administrations and a subsample (n = 24) who had both IQ and CNB assessments at two time points. We estimated domain-level CNB scores using exploratory factor analysis (including bifactor for overall scores) and related those scores (intraclass correlations (ICCs)) to the IQ scores. We found that the overall CNB accuracy score showed similar correlations between time 1 and time 2 as IQ (0.775 for IQ and 0.721 for CNB accuracy), correlated well with the IQ scores (ICC = 0.565 and 0.593 for time 1 and time 2, respectively), and correlated similarly with adaptive functioning (0.165 and 0.172 for IQ and CNB, respectively). We provide a crosswalk (from linear equating) between standardized CNB and IQ scores. Results suggest that one can substitute the CNB for IQ testing in future genetic studies that aim to probe specific domains of brain-behavior relations beyond IQ.This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

Structural validity of a computerized neurocognitive battery for youth affected by human immunodeficiency virus in Botswana.

“…Additional considerations for selection of the modules in the Botswana PennCNB included suitability for large-scale administration, suitability for resource-limited settings, suitability for translation and adaption across cultures, and sensitivity to individual differences and mild impairments (Scott et al, 2020). The PennCNB tests in the adapted battery were ultimately grouped into four neurocognitive domains (executive functioning, episodic memory, complex cognition, and sensorimotor/processing speed) based on a combination of neurobehavioral theory and knowledge of previous factor structures (Gur et al, 2021;Moore et al, 2015Moore et al, , 2017Moore et al, , 2019. The battery underwent a rigorous cultural and language adaptation process informed by WHO guidelines that involved iterations of back translating, piloting of tests and items, discussions about challenging concepts, and further modifications to select the most linguistically and conceptually appropriate Setswana (an African Bantu language) terminology as well as locally appropriate English terminology (Guillemin et al, 1993;van Widenfelt et al, 2005).…”

Distinct neurocognitive profiles and clinical phenotypes associated with copy number variation at the 22q11.2 locus

“…Table S1 displays the number of datapoints marked as invalid for each Penn‐CNB test at each timepoint. The battery has been used in children with intellectual disability (Yi et al, 2016), youth at clinical high risk for psychosis (Goldenberg et al, 2012), and individuals with genetic disorders (O'Hora, Zhang, et al, 2022), including 22qDel carriers (Goldenberg et al, 2012; Gur et al, 2021; Weinberger et al, 2016). It captures accuracy and speed measures and employs automated quality assurance and scoring procedures (Moore et al, 2015).…”

Remote assessment of the Penn computerised neurocognitive battery in individuals with 22q11.2 deletion syndrome

“…The procedures for remote administration of the CNB followed those of in-person administration (Yi et al 2016;Gur et al 2021), such that certified test administrators proctored the tests prior to ensuring a quiet, private testing setting at participants' locations. Certified test administrators also completed training on remote assessments, including familiarity with trouble shooting the remote platform (i.e.…”

“…The CNB has been validated in different populations, including children and adults with psychiatric disorders (Gur et al 2015;Baller et al 2021;Kantor et al 2022), as well as in individuals with 22q11.2DS (Gur et al 2014;Yi et al 2016;Tang et al 2017a). Thus, having the CNB validated for remote assessments for individuals with 22q11.2DS would be beneficial for scientific advancement by offering a tool that can be deployed in both research and clinical settings, as the CNB can provide a proxy for IQ (Gur et al 2021).…”

“…Thus, having the CNB validated for remote assessments for individuals with 22q11.2DS would be beneficial for scientific advancement by offering a tool that can be deployed in both research and clinical settings, as the CNB can provide a proxy for IQ (Gur et al . 2021).…”