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Executive Function in Nephropathic Cystinosis

Ballantyne, Angela O. PhD*; Spilkin, Amy M. PhD*; Trauner, Doris A. MD*,†,‡

Cognitive and Behavioral Neurology: March 2013 - Volume 26 - Issue 1 - p 14–22
doi: 10.1097/WNN.0b013e31828b9f11
Original Studies

Objective: We studied executive function (EF) in children and adolescents with cystinosis.

Background: Cystinosis is a genetic metabolic disorder in which the amino acid cystine accumulates in all organs of the body, including the brain. Previous research has shown that individuals with cystinosis have visuospatial deficits, but normal intelligence and intact verbal abilities. Better understanding of the behavioral phenotype associated with cystinosis could have important implications for treatment.

Methods: Twenty-eight children with cystinosis and 24 control participants (age range 8 to 17 years) underwent selected Delis-Kaplan Executive Function System tests for neuropsychological assessment of EF, and the participants’ parents completed the Behavior Rating Inventory of Executive Function.

Results: Participants with cystinosis performed significantly more poorly than controls on all Delis-Kaplan Executive Function System indices examined and on the Behavior Rating Inventory of Executive Function Metacognition Index and Global Executive Composite.

Conclusions: EF is an area of potential risk in cystinosis. Our data have implications not only for the function of affected children and adolescents in school and daily life, but also for disease management and treatment adherence. Our findings can aid in the design and implementation of interventions and lead to a greater understanding of brain-behavior relationships in cystinosis.

Departments of *Neurosciences

Pediatrics, School of Medicine, University of California, San Diego, La Jolla, CA

Rady Children’s Hospital, San Diego, CA

All of the authors played an integral part in planning and executing the study and in preparing the manuscript.

Supported in part by the Cystinosis Research Foundation (UCSD # 2005-3008) and the National Institutes of Health (R01 NS043135).

The authors declare no conflicts of interest.

Reprints: Angela O. Ballantyne, PhD, Department of Neurosciences, University of California, San Diego, 9500 Gilman Dr, #0935, La Jolla, CA 92093-0935 (e-mail:

Received September 23, 2011

Accepted October 2, 2012

© 2013 Lippincott Williams & Wilkins, Inc.