Exploring the use of the National Institutes of Health Toolbox Cognition Battery with children and adolescents with Pompe disease: Preliminary findings.

BACKGROUND: Although Pompe disease (PD) was originally characterized as a metabolic myopathy, there is now emerging evidence of neurological involvement in children and adolescents with infantile-onset Pompe disease (IOPD). Therefore, assessing cognition and detecting cognitive changes in these individuals over time have become important components of their care. The National Institutes of Health Toolbox Cognition Battery (NIHT-CB, Version 2) is a brief, standardized instrument designed to measure cognitive processes in individuals 3-85 years of age. With its availability and ease of administration by a trained provider, the NIHT-CB could potentially be used in a clinical health care setting to help screen/monitor cognition in individuals with PD. This is the first study to report the use of the NIHT-CB in children and adolescents with IOPD and late-onset Pompe disease (LOPD) and their performance on this instrument in comparison to traditional neuropsychological measures. METHODS: Fourteen children with IOPD (median age = 10.5, range = 6-19 years) and eight with LOPD (median age = 12.5, range = 7-17 years) were administered the NIHT-CB and a neuropsychological battery by the same psychologist with expertise in PD. RESULTS: On the NIHT-CB and selected neuropsychological measures, nearly all median scores for the IOPD group were lower than those of the LOPD group. However, none of the differences between the IOPD and LOPD groups were statistically significant. Consistent with previous reports, there was a wide range of scores among the IOPD and LOPD participants on both the neuropsychological measures and the NIHT-CB. The lowest median NIHT-CB score for both groups was on the Flanker Inhibitory Control and Attention Test (IOPD = 77.5, LOPD = 84), a measure of executive function and selective attention. Positive, significant relationships were found between the NIHT-CB and neuropsychological measures of overall cognition, reading decoding, and short-term working memory on the Wechsler Intelligence Test scales and the Woodcock-Johnson Tests of Achievement subtest for the IOPD group only. CONCLUSIONS: Though not a replacement for an established neuropsychological battery, the NIHT-CB could potentially be used as a screening measure to provide a baseline level of cognitive functioning in children and adolescents with IOPD. Observed changes in the NIHT-CB Cognitive Function Composite or selected subtests over time may also signal the need for a more comprehensive neuropsychological battery and/or brain imaging studies as indicated. Longitudinal studies examining the performance of a larger cohort of IOPD and LOPD children and adults at multiple time points are needed.

Duke Scholars

Author Kanecia Obie Zimmerman Pediatrics, Critical Care Medicine

Author Gail A. Spiridigliozzi Psychiatry, Child & Family Mental Health & Community Psychia ...

Author Priya Sunil Kishnani Pediatrics, Medical Genetics