title: Executive function in nephropathic cystinosis.
abstract: 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.
authors.affiliation: Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093-0935, USA. aballantyne@ucsd.edu
authors.forename: Angela O
authors.initials: AO
authors.lastname: Ballantyne
authors.forename: Amy M
authors.initials: AM
authors.lastname: Spilkin
authors.forename: Doris A
authors.initials: DA
authors.lastname: Trauner
mesh_terms: D000293:Adolescent; D000294:Adolescent Behavior / Q000523:psychology*; D002648:Child; D002652:Child Behavior / Q000523:psychology*; D003554:Cystinosis / Q000523:psychology*; D056344:Executive Function; D005198:Fanconi Syndrome / Q000523:psychology*; D005260:Female; D006801:Humans; D008297:Male; D009404:Nephrotic Syndrome / Q000523:psychology*; D009483:Neuropsychological Tests
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