Executive functions and quality of life in children with neurofibromatosis type 1

Arnaud Roy,Sébastien Barbarot,Marie-Laure Corbat,Christèle Gras-Le Guen,Jean-Luc Roulin

doi:10.1186/s13023-021-02051-5

Abstract

BackgroundTo examine the impact of executive function disorders on health-related quality of life (QoL) in children with neurofibromatosis type 1 (NF1), we conducted a prospective single-center study among 40 children with NF1 aged 8–12 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.ResultsSeveral QoL domains were significantly impaired in the children with NF1, compared with healthy controls, mainly according to their parents’ reports (3 out of 9 scales; Cohen’s d: 0.57–0.76), with particularly low scores in the social support and peers and school environment domains. Executive function difficulties (Cohen’s d: 0.64–1.72) significantly predicted the impairment of QoL domains as perceived by the children or their parents, regardless of the indirect indicators of learning disabilities.ConclusionsBoth performance-based executive function scores and behavioral 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.

Highlights

To examine the impact of executive function disorders on health-related quality of life (QoL) in children with neurofibromatosis type 1 (NF1), we conducted a prospective single-center study among 40 children with NF1 aged 8–12 years and their parents, comparing them with 56 healthy control children matched for age, sex, parental education level, and handedness
Neither parental education level nor familial versus sporadic form of the disease significantly influenced QoL scores. This prospective study was designed to examine the potential impact of executive functions (EFs) deficits on general health-related QoL, as perceived by children with NF1 and their parents
In accordance with our first hypothesis, we found a significant decrease in QoL among children with NF1 in several domains

Summary

Introduction

Neuropsychological and learning disorders are frequent complications in these children (30–65% [4]), especially when they involve executive functions (EFs) [5, 6] The latter are a set of high-level controlled processes, such as planning, inhibition, flexibility and working memory, that subtend appropriate goal-directed. Some sociodemographic or diseaserelated factors (e.g., familial vs sporadic disease, disease severity) are thought to predict poor QoL in children with NF1 [3], the potential impact of neuropsychological disorders on QoL remains largely unknown. In this context, the objective of the current prospective study was to examine the extent to which EF impairment contributes to reduced QoL in children with NF1, as

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Discussion

Conclusion