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.
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.
Authors: D G Vogel; M H Malekzadeh; M E Cornford; J A Schneider; W D Shields; H V Vinters Journal: J Neuropathol Exp Neurol Date: 1990-11 Impact factor: 3.685
Authors: G McDowell; T Isogai; A Tanigami; S Hazelwood; D Ledbetter; M H Polymeropoulos; U Lichter-Konecki; D Konecki; M M Town; W V Van't Hoff; J Weissenbach; W A Gahl Journal: Biochem Mol Med Date: 1996-08
Authors: Francis F Ulmer; Markus A Landolt; Russia Ha Vinh; Thierry A G M Huisman; Thomas J Neuhaus; Bea Latal; Guido F Laube Journal: Pediatr Nephrol Date: 2009-03-18 Impact factor: 3.714
Authors: Doris A Trauner; Jennifer Williams; Angela O Ballantyne; Amy M Spilkin; Jennifer Crowhurst; John Hesselink Journal: Pediatr Nephrol Date: 2010-07-22 Impact factor: 3.714
Authors: Francesco Emma; Galina Nesterova; Craig Langman; Antoine Labbé; Stephanie Cherqui; Paul Goodyer; Mirian C Janssen; Marcella Greco; Rezan Topaloglu; Ewa Elenberg; Ranjan Dohil; Doris Trauner; Corinne Antignac; Pierre Cochat; Frederick Kaskel; Aude Servais; Elke Wühl; Patrick Niaudet; William Van't Hoff; William Gahl; Elena Levtchenko Journal: Nephrol Dial Transplant Date: 2014-09 Impact factor: 5.992