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Project

The Development of neuromarkers of cognitive dysfunction in Cystinosis

Center:

NY-Rose F. Kennedy Center, UCEDD/LEND

Fiscal Year:

2022

Contact Information:

Sophie Molholm
[email protected]
718-862-1823

Project Description:

We propose to develop reliable neurocognitive markers in patients with cystinosis, to characterize neurocognitive dysfunction in this group, and to serve as outcome measures of the influence of interventions on brain function. We will use high-density electrophysiology (EEG) and cognitive and neuropsychological assessments to test twenty-five families (25 homozygotes and 25 heterozygotes) and 50 gender- and age-matched controls, focusing on sensory processing and memory measures. Our findings may additionally critically impact the development of intervention efforts based on informed knowledge regarding the cognitive profile of cystinosis and, ultimately, foster improved outcomes for patients with cystinosis.

Keyword(s):

Cystinosis

Core Function(s):

Performing Research or Evaluation

Area of Emphasis

Health-Related Activities

Target Audience:

Not Applicable

Unserved or Under-served Populations:

Specific Groups

Primary Target Audience Geographic Descriptor:

National