Quality of Life in Children with Neurofibromatosis Type 1: Agreement between Parents and Patients, and the Role of Disease Severity and Visibility

Abstract

Background: Neurofibromatosis type 1 (NF1) is a genetic disorder that affects multiple systems in the body, often leading to physical disfigurements and a wide range of clinical symptoms. This study aims to investigate the relationship between NF1 severity and visibility and the quality of life (QoL) in children. Methods: The Pediatric Quality of Life Inventory (PedsQL) and a modified version of the Ablon scale were used to assess QoL and NF1 severity and visibility, respectively. Self-reported and parent-reported QoL scores were compared, and the associations between NF1 severity/visibility and QoL were explored. Results: Thirty-eight pediatric NF1 patients and their parents were enrolled. QoL scores did not differ significantly between patient self-reports and parent reports. However, correlational analyses revealed that higher NF1 severity was associated with lower physical QoL in patients, and greater NF1 visibility was linked to lower physical and social QoL. For parents, higher NF1 severity correlated with lower school functioning, whereas NF1 visibility did not show a significant correlation with QoL. Conclusion: The severity and visibility of NF1 have distinct impacts on various aspects of QoL in children, highlighting the need for tailored interventions that address both physical and psychological challenges. These findings underscore the importance of comprehensive care approaches in managing NF1 in pediatric populations.

Keywords

• NF1
• neurofibromatosis type 1
• quality of life
• QoL
• parents’ report
• disease visibility