Quality of Life in Children with Neurofibromatosis Type 1, Based on Their Mothers' Reports

Abstract

Objective: The aim of this study was to investigate health-related quality of life (HRQoL) in children with neurofibromatosis type 1 (NF1) and to determine the factors affecting HRQoL in these children, with particular emphasis on NF1-specific findings and complications. Materials and Methods: The patient group included 60 NF1 patients aged 3-18 years that were evaluated at our pediatric neurology outpatient clinic between January 2001 and January 2011. The control group included 96 age-matched patients without chronic disease and whose mothers had similar levels of education as the mothers of those in the patient group. All the mothers completed the Pediatric Quality of Life Inventory PedsQoL-Parent Form and the PedsQoL scores in the 2 groups were statistically compared. In addition, the effects of sociodemographic variables, as well as NF1-specific findings and complications (skin findings, neurofibromas, Lisch nodules, arterial hypertension and/or cardiac pathology, short stature, macrocephaly, orthopedic problems, hyperintense lesions on cranial MRI, epileptic seizures, psychiatric disease, and cognitive involvement) were statistically analyzed. Results: All PedsQoL domain scores were lower in the patient group than in the control group (P = 0.0001). HRQoL decreased, and the number of NF1-specific findings and complications increased as age increased in the patient group (P = 0.013). Short stature, neurofibromas and/or plexiform neurofibromas, bone lesions, and psychiatric problems were factors specifically related to low-level HRQoL in the NF1 patients. Conclusion: NF1 negatively affected HRQoL in the patient group. We think that multidisciplinary evaluation and, in particular, Psychiatric management of NF1 patients are necessary to improve patient HRQoL.