Evaluation of neurocognitive function of prefrontal cortex in ornithine transcarbamylase deficiency

Abstract Hyperammonia due to ornithine transcarbamylase deficiency (OTCD) can cause a range of deficiencies in domains of executive function and working memory. Only a few fMRI studies have focused on neuroimaging data in a population with OTCD. Yet, there is a need for monitoring the disease progression and neurocognitive function in this population. In this study, we used a non-invasive neuroimaging technique, functional Near Infrared Spectroscopy (fNIRS), to examine the hemodynamics of prefrontal cortex (PFC) based on neural activation in an OTCD population. Using fNIRS, we measured the activation in PFC of the participants while performing the Stroop task. Behavioral assessment such as reaction time and correct response were recorded. We investigated the difference in behavioral measures as well as brain activation in left and right PFC in patients with OTCD and controls. Results revealed a distinction in left PFC activation between controls and patients with OTCD, where control subjects showed higher task related activation increase. Subjects with OTCD also exhibited bilateral increase in PFC activation. There was no significant difference in response time or correct response between the two groups. Our findings suggest the alterations in neurocognitive function of PFC in OTCD compared to the controls despite the behavioral profiles exhibiting no such differences. This is a first study using fNIRS to examine a neurocognitive function in OTCD population and can provide a novel insight into the screening of OTCD progression and examining neurocognitive changes.