title: Intellectual and motor performance, quality of life and psychosocial adjustment in children with cystinosis.
abstract: Cystinosis is a rare multisystemic progressive disorder mandating lifelong medical treatment. Knowledge on the intellectual and motor functioning, health-related quality of life and psychosocial adjustment in children with cystinosis is limited. We have investigated nine patients (four after renal transplantation) at a median age of 9.7 years (range 5.3-19.9 years). Intellectual performance (IP) was analysed with the Wechsler Intelligence Scale for Children-III (seven children) and the Kaufman Assessment Battery for Children (two children). Motor performance (MP) was evaluated using the Zurich Neuromotor Assessment Test, and quality of life (QOL) was studied by means of the Netherlands Organization for Applied Scientific Research Academical Medical Center Child Quality of Life Questionnaire. Psychosocial adjustment was assessed by the Child Behavior Checklist. The overall intelligence quotient (IQ) of our patient cohort (median 92, range 71-105) was significantly lower than that of the healthy controls (p = 0.04), with two patients having an IQ < 85. Verbal IQ (93, range 76-118) was significantly higher than performance IQ (90, range 68-97; p = 0.03). The MP was significantly below the norm for pure motor, pegboard and static balance, as well as for movement quality. The patients' QOL was normal for six of seven dimensions (exception being positive emotions), whereas parents reported significant impairment in positive emotions, autonomy, social and cognitive functions. Significant disturbance was noted in terms of psychosocial adjustment. Based on the results from our small patient cohort, we conclude that intellectual and motor performance, health-related QOL and psychosocial adjustment are significantly impaired in children and adolescents with cystinosis.
authors.affiliation: Nephrology Unit, University Children's Hospital Zurich, Steinwiesstrasse 75, 8032, Zurich, Switzerland.
authors.forename: Francis F
authors.initials: FF
authors.lastname: Ulmer
authors.forename: Markus A
authors.initials: MA
authors.lastname: Landolt
authors.forename: Russia Ha
authors.initials: RH
authors.lastname: Vinh
authors.forename: Thierry A G M
authors.initials: TA
authors.lastname: Huisman
authors.forename: Thomas J
authors.initials: TJ
authors.lastname: Neuhaus
authors.forename: Bea
authors.initials: B
authors.lastname: Latal
authors.forename: Guido F
authors.initials: GF
authors.lastname: Laube
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000473:pathology / Q000503:physiopathology; D002648:Child; D002657:Child Development; D002675:Child, Preschool; D003554:Cystinosis / Q000473:pathology / Q000503:physiopathology* / Q000523:psychology*; D005190:Family; D005260:Female; D006801:Humans; D007360:Intelligence; D008279:Magnetic Resonance Imaging; D008297:Male; D009483:Neuropsychological Tests; D011584:Psychology; D011597:Psychomotor Performance; D011788:Quality of Life; D011795:Surveys and Questionnaires; D014888:Wechsler Scales