title: Behavioral profiles of children with infantile nephropathic cystinosis.
abstract: Children with infantile nephropathic cystinosis have evidence of visuospatial and arithmetic deficits on a background of normal intellectual and verbal skills. This study aimed to define further their behavioral phenotype. The Achenbach Child Behavior Checklist was completed by parents of: 64 children and adolescents with cystinosis (33 females, 31 males; mean age 8 y 8 mo, range 4 to 16y, SD 2 y 11 mo); 101 healthy controls (47 females, 54 males; mean age 8 y 4 mo, range 4 to 16 y, SD 2 y 11 mo); 21 children and adolescents with cystic fibrosis (CF), termed chronic-disease controls (9 females, 12 males; mean age 11 y 3 mo, age range 4 to 17 y, SD 3 y 5 mo). Compared with healthy controls, individuals with cystinosis had evidence of a significantly higher incidence of behavioral problems, including social problems, somatic complaints, and attention problems. Compared with the chronic-disease control group, the cystinosis group differed only on the Social Problems scale, with 22% of participants with cystinosis scoring in the 'at risk' range whereas no participant with CF received an elevated score on this scale. We conclude that children and adolescents with cystinosis have evidence of a significant incidence of social difficulties compared with individuals with another chronic illness and healthy participants. The combination of visuospatial problems, difficulty with arithmetic, attention problems, and social difficulties seen in the cystinosis group constitutes a behavioral phenotype of this genetic disorder. This cluster of cognitive and behavioral symptoms is also seen in the nonverbal learning disabilities syndrome, and suggests a possible early difference in brain development in children with cystinosis compared with children who do not share this genetic disorder.
authors.affiliation: Southern California Permanente Medical Group, USA.
authors.forename: Gustavo
authors.initials: G
authors.lastname: Delgado
authors.forename: Amy
authors.initials: A
authors.lastname: Schatz
authors.forename: Sharon
authors.initials: S
authors.lastname: Nichols
authors.forename: Mark
authors.initials: M
authors.lastname: Appelbaum
authors.forename: Doris
authors.initials: D
authors.lastname: Trauner
mesh_terms: D016009:Chi-Square Distribution; D002648:Child; D002653:Child Behavior Disorders / Q000523:psychology*; D002675:Child, Preschool; D003554:Cystinosis / Q000523:psychology*; D005260:Female; D006801:Humans; D007674:Kidney Diseases / Q000523:psychology*; D008297:Male; D009483:Neuropsychological Tests / Q000706:statistics & numerical data; D011569:Psychiatric Status Rating Scales; D012919:Social Behavior