PhD defence J. (Jesminne) Castricum

Dissertation in short:

We investigated the use of various outcome measures for cognitive deficits in adults with neurofibromatosis type 1 (NF1) to aid future clinical trials to identify treatments for cognitive disorders. Neuropsychological tasks and non-invasive neurophysiological paradigms were administered to unaffected controls, adult patients diagnosed with NF1, and adult patients diagnosed with major depressive disorder (MDD). The main findings of this thesis were: 1) Despite potential problems in the cognitive functions attention and motor learning seen in the NF1 population, our findings overall showed similar performance in NF1 adults versus controls in an experimental design. Small neurophysiological deficits in the hand accuracy and eye-movement responses in NF1 adults suggested that deficits in visuomotor integration may be of significance in the pathophysiology of cognitive dysfunction in adult patients with NF1. These findings may be clinically relevant to improve therapeutic treatment for adults with NF1. 2) We concluded that reduced visual and motor cortical plasticity could underlie deficits in cognitive functioning as measured with neurophysiological paradigms. 3) We observed considerable variability in the neurophysiological outcome measures, which are known to be sensitive to many parameters. Nevertheless, we concluded that the (combination of) non-invasive neurophysiological measures may have clinical potential to monitor and track changes in inhibition and plasticity in different cortical areas by pharmacotherapy or neurorehabilitation, especially in patients with cognitive deficits.