Executive functions and quality of life in children with neurofibromatosis type 1
Abstract Background. To examine the impact of executive function disorders on health-related quality of life (QoL) in children with neurofibromatosis type 1 (NF1). Prospective single-center study among 40 children with NF1 aged 812 years (mean = 9.7, SD = 1.4) and their parents, comparing them with 56 healthy control children matched for age, sex, parental education level, and handedness. We collected children’s self-reports and parents’ proxy reports of QoL with the Kidscreen-52 questionnaire, and measured executive functions by combining seven performance-based tests and a daily life questionnaire completed by parents and teachers. Results. Several QoL domains were significantly impaired in the children with NF1, compared with healthy controls, according to both their self-reports (3 out of 9 scales; Cohen’s d: .40.42) and their parents’ reports (6 out of 9 scales; Cohen’s d: .34.75), with a systematic decrease in the social support and peers and school environment domains. Executive function disorders (Cohen’s d: .641.72) significantly predicted the impairment of QoL domains as perceived by the children or their parents, regardless of the indirect indicators of learning disabilities. Conclusions. Both performance-based executive function scores and behavior ratings of executive functions in daily life by parents and teachers were associated with low QoL levels in the children with NF1. The school environment and social integration appear to be particularly affected, and should therefore be targeted in the management of the disease. 227 words