Neuropsychological assessment of adults with phenylketonuria using the NIH toolbox

Abstract

Among researchers and clinicians, there is a call for the development and validation of new measures to better assess and characterize neurocognitive difficulties associated with early-treated phenylketonuria (ETPKU) and other metabolic disorders. The NIH Toolbox represents a relatively new computer-administered assessment tool and provides a sampling of performance across multiple cognitive domains, several of which (e.g., executive function, processing speed) are at risk for disruption in ETPKU. The goal of the present study was to provide an initial evaluation of the value and sensitivity of the NIH Toolbox for use with individuals with ETPKU. To this end, a sample of adults with ETPKU and a demographically-matched comparison group without PKU completed the cognitive and motor batteries of the Toolbox. Results indicate that overall performance (as reflected by the Fluid Cognition Composite) was sensitive to both group differences (ETPKU vs non-PKU) as well as blood Phe levels (a marker of metabolic control). The present findings offer preliminary support for the utility of the NIH Toolbox as a measure of neurocognitive functioning in individuals with ETPKU. Future research including a larger sample size and broader age range is needed to fully validate the Toolbox for clinical and research use with individuals with ETPKU.

Keywords: Executive function; Motor ability; NIH Toolbox; Neuropsychology; Phenylketonuria; Processing speed.