title: Global intellectual deficits in cystinosis.
abstract: Fourteen families of children with infantile nephropathic cystinosis were evaluated using the Stanford-Binet Intelligence Scale, Fourth Edition [Thorndike et al., 1986: Stanford-Binet Intelligence Scale, Fourth Ed.]. The IQs of 15 children with cystinosis, their 23 sibs and 24 parents were compared in order to evaluate a potential effect of cystinosis on intelligence. Children with cystinosis had a significantly lower mean IQ than their sibs and their parents (P = .001). Thus, even though the mean IQ of the children with cystinosis (94.4 +/- 10) was within the average range, there is evidence that these children have a mild global intellectual deficit relative to their expected IQ based upon the IQs of other relatives. In addition, to a subset of the subjects we administered a measure of scholastic ability, the Wide Range Achievement Test-Revised [Jastak and Wilkinson, 1984: The Wide Range Achievement Test-Revised], which consists of spelling, reading, and arithmetic subtests. The 11 cystinosis subjects scored significantly lower (P = .01) than their 16 sibs and their 14 parents in the area of spelling, whereas they did not significantly differ in their performance in the areas of reading and arithmetic.
authors.affiliation: Department of Neurosciences, University of California School of Medicine, La Jolla.
authors.forename: B L
authors.initials: BL
authors.lastname: Williams
authors.forename: J A
authors.initials: JA
authors.lastname: Schneider
authors.forename: D A
authors.initials: DA
authors.lastname: Trauner
mesh_terms: D000041:Absenteeism; D000293:Adolescent; D000328:Adult; D002353:Carrier State / Q000523:psychology; D002648:Child; D002675:Child, Preschool; D003554:Cystinosis / Q000523:psychology* / Q000601:surgery; D004521:Educational Measurement; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007360:Intelligence; D007677:Kidney Function Tests; D016030:Kidney Transplantation; D007859:Learning Disabilities / Q000235:genetics*; D008297:Male; D009679:Nuclear Family; D010290:Parents; D013195:Stanford-Binet Test; D013972:Thyrotropin / Q000097:blood; D014796:Visual Perception
chemical_list: D013972:Thyrotropin