NEUROCOGNITIVE FUNCTIONING IN SCHOOL-AGED CYSTINOSIS PATIENTS
| Autor: | J. Vande Walle, C. M. L. van Dael, Elena Levtchenko, Marc R. Lilien, Elisabeth A.M. Cornelissen, R E A van der Rijken, Martine T.P. Besouw, G M Hulstijn-Dirkmaat |
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| Přispěvatelé: | Faculteit Medische Wetenschappen/UMCG |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Adolescent Population Cystinosis Emotions Child Behavior CHILDREN INFANTILE NEPHROPATHIC CYSTINOSIS chemistry.chemical_compound Cognition Belgium DEFICITS Internal medicine medicine Lysosomal storage disease Genetics Humans Genetics(clinical) Nervous System Physiological Phenomena GENETIC METABOLIC-DISORDER education Child Genetics (clinical) Renal disorder [IGMD 9] ACCUMULATION Netherlands Intelligence Tests education.field_of_study School age child Intelligence quotient business.industry NERVOUS-SYSTEM INVOLVEMENT Psychological determinants of chronic illness [NCEBP 8] medicine.disease Endocrinology Memory Short-Term chemistry Mental Recall Cysteamine Female Original Article business Neurocognitive |
| Zdroj: | ResearcherID Journal of Inherited Metabolic Disease Journal of Inherited Metabolic Disease, 33(6), 787-793. SPRINGER Journal of Inherited Metabolic Disease, 33, 787-93 Journal of Inherited Metabolic Disease, 33, 6, pp. 787-93 |
| ISSN: | 0141-8955 |
| Popis: | Contains fulltext : 89600.pdf (Publisher’s version ) (Closed access) INTRODUCTION: Cystinosis 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. PATIENTS AND METHODS: Fourteen Dutch and Belgian school-aged cystinosis patients were included. Glomerular filtration rate was estimated using the Schwartz formula. Children were tested for general intelligence, visual-motor integration, inhibition, interference, sustained attention, accuracy, planning, visual memory, processing speed, motor planning, fluency and speed, and behavioural and emotional functioning using standardized methods. RESULTS: Glomerular filtration rate ranged from 22 to 120 ml min(-1) 1.73 m(-2). Median full-scale intelligence was below the average of a normal population (87, range 60-132), with a discrepancy between verbal (median 95, range 60-125) and performance (median 87, range 65-130) intelligence. Over 50% of the patients scored poorly on visual-motor integration, sustained attention, visual memory, planning, or motor speed. The other tested areas showed no differences between patients' and normal values. CONCLUSION: Neurocognitive diagnostics are indicated in cystinosis patients. Early recognition of specific deficits and supervision from special education services might reduce learning difficulties and improve school careers. 01 december 2010 |
| Databáze: | OpenAIRE |
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