Project Description:
We propose to characterize different components of executive functioning (memory updating, set shifting, conflict monitoring, and inhibition) in cystinosis. We will use high-density electrophysiology (EEG)a non-invasive method that allows one to directly measure functional brain activity at the millisecond scale and thus reliably assess the integrity of information processing at the neural leveland standardized cognitive functional assessments to test 15 children, 15 adolescents, and 15 adults with cystinosis and the same number of age-matched unaffected healthy controls. Twenty heterozygotes and age matched controls will also be tested to examine the role that mutation versus disease plays in the cognitive phenotype of cystinosis.