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Neurocognitive functioning in school-aged cystinosis patients |
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| Authors: | M. T. P. Besouw G. M. Hulstijn-Dirkmaat R. E. A. van der Rijken E. A. M. Cornelissen C. M. van Dael J. Vande Walle M. R. Lilien E. N. Levtchenko |
| Affiliation: | (1) Department of Pediatrics/Pediatric Nephrology, University Hospital Gasthuisberg, Herestraat 49, 3000 Leuven, Belgium;(2) Department of Medical Psychology, Radboud University Medical Centre Nijmegen, Nijmegen, The Netherlands;(3) Department of Pediatric Nephrology, Radboud University Medical Centre Nijmegen, Nijmegen, The Netherlands;(4) Department of Pediatric Nephrology, University Medical Centre Groningen, Groningen, The Netherlands;(5) Department of Pediatric Nephrology, University Hospital Ghent, Ghent, Belgium;(6) Department of Pediatric Nephrology, Wilhelmina Children Hospital Utrecht, Utrecht, The Netherlands; |
| Abstract: | IntroductionCystinosis is an autosomal recessive disorder leading to intralysosomal cystine accumulation in various tissues. It causes renal Fanconi syndrome and end stage renal failure around the age of 10 years if not treated with cysteamine. Children with cystinosis seem to have a normal intelligence but frequently show learning difficulties. These problems may be due to specific neurocognitive deficits rather than impaired renal function. Whether cysteamine treatment can improve cognitive functioning of cystinosis patients is thus far unknown. We aim to analyze neurocognitive functioning of school-aged cystinosis patients treated with cysteamine in order to identify specific deficits that can lead to learning difficulties. |
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