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

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.

Non-verbal deficits in young children with a genetic metabolic disorder: WPPSI-III performance in cystinosis.

Cystinosis is a recessive genetic metabolic disorder in which the amino acid cystine accumulates in various organs of the body. Previous studies have demonstrated visuospatial dysfunction in children and adults with this disorder. It is not known whether this is a result of the genetic alteration or an accumulation of cystine in the brain over time.