Specific Cognitive Deficits in Young Children with Cystinosis: Evidence for an Early Effect of the Cystinosin Gene on Neural Function

• Published in: The Journal of pediatrics 2007-08, Vol.151 (2), p.192-196
• Main Authors: Trauner, Doris A., MD, Spilkin, Amy M., PhD, Williams, Jennifer, Babchuck, Lynne
• Format: Article
• Language: English
• Subjects: Age Distribution; Amino Acid Transport Systems, Neutral - genetics; Amino Acid Transport Systems, Neutral - metabolism; Aminoacid disorders; Biological and medical sciences; Case-Control Studies; Child; Child, Preschool; Cognition Disorders - diagnosis; Cognition Disorders - epidemiology; Cognition Disorders - genetics; Comorbidity; Cystinosis - diagnosis; Cystinosis - epidemiology; Cystinosis - genetics; Errors of metabolism; Female; Follow-Up Studies; Gene Expression Regulation, Developmental; General aspects; Humans; Incidence; Intelligence Tests; Male; Medical sciences; Metabolic diseases; Multivariate Analysis; Neuropsychological Tests; Pediatrics; Perceptual Disorders - diagnosis; Perceptual Disorders - epidemiology; Perceptual Disorders - genetics; Probability; Reference Values; Risk Assessment; Severity of Illness Index; Sex Distribution; Time Factors; Visual Perception - physiology
• ISSN: 0022-3476; 1097-6833
• DOI: 10.1016/j.jpeds.2007.02.062

Objectives Infantile nephropathic cystinosis is associated with a specific cognitive deficit in visual spatial processing in older children and adults. The cause of this deficit is unknown. This study was designed to determine whether the cognitive deficit is present in young children with cystinosis, suggesting an early effect of the genetic disorder on brain development. Study design Young children (n = 25; age, 3-8 years) with cystinosis and 25 matched control subjects underwent cognitive testing, including tests of intelligence, visual perceptual, visual spatial, and visual motor functions. Results Children with cystinosis performed significantly more poorly on tests of visual spatial and visual motor function than did control subjects. Visual perceptual abilities were equivalent in the 2 groups. Conclusion The same pattern of visual spatial deficit is present in young children with cystinosis as has previously been demonstrated in older children and adults, which suggests that there may be an influence of the cystinosis gene on brain development, rather than an adverse effect of prolonged cystine accumulation in the brain during childhood.