Specific cognitive deficits in young children with cystinosis: evidence for an early effect of the cystinosin gene on neural function.
OBJECTIVE
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.


METHODS
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.


CONCLUSIONS
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.
Trauner
Doris A
DA
Department of Neurosciences, UCSD School of Medicine, La Jolla, CA 92093-0935, USA. dtrauner@ucsd.edu
Spilkin
Amy M
AM
Williams
Jennifer
J
Babchuck
Lynne
L
D017677:Age Distribution; D026921:Amino Acid Transport Systems, Neutral / Q000235:genetics* / Q000378:metabolism; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D003072:Cognition Disorders / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D015897:Comorbidity; D003554:Cystinosis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D018507:Gene Expression Regulation, Developmental; D006801:Humans; D015994:Incidence; D007361:Intelligence Tests; D008297:Male; D015999:Multivariate Analysis; D009483:Neuropsychological Tests; D010468:Perceptual Disorders / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D011336:Probability; D012016:Reference Values; D018570:Risk Assessment; D012720:Severity of Illness Index; D017678:Sex Distribution; D013997:Time Factors; D014796:Visual Perception / Q000502:physiology
D026921:Amino Acid Transport Systems, Neutral; C111445:CTNS protein, human