ArticleCognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology2013
Executive function in nephropathic cystinosis.
Article in Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 31 citations in OpenAlex.
- Long-term outcomes in nephropathic cystinosis: a review.Pediatric nephrology (Berlin, Germany) · 2026Review
- A behavioral and electrophysiological investigation of conflict monitoring in cystinosis (CTNS gene mutations) using the flanker paradigm.Frontiers in nephrology · 2026Article
- Transition from pediatric to adult nephropathic cystinosis care: the structure, challenges and lessons learned.Frontiers in pediatrics · 2025Review
- Addressing the psychosocial aspects of transition to adult care in patients with cystinosis.Pediatric nephrology (Berlin, Germany) · 2024Review
- Event-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations).Orphanet journal of rare diseases · 2023Article
- Review
- Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis.Orphanet journal of rare diseases · 2020Article
- [Cystinosis : Diagnosis, cystine-depleting therapy, and transition].Der Internist · 2018Review
- Nephropathic Cystinosis: Symptoms, Treatment, and Perspectives of a Systemic Disease.Frontiers in pediatrics · 2018Article
- Chiari I Malformation in Nephropathic Cystinosis.The Journal of pediatrics · 2015Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
objectiveWe studied executive function (EF) in children and adolescents with cystinosis.
backgroundCystinosis 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.
methodsTwenty-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.
resultsParticipants 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.
conclusionsEF 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.
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