PedsQL Neurofibromatosis Type 1 Module for children, adolescents and young adults: feasibility, reliability, and...

Area of Science:

• Pediatric Health
• Clinical Measurement
• Genetics and Rare Diseases

Background:

• Neurofibromatosis Type 1 (NF1) is a genetic disorder impacting multiple body systems.
• Assessing the quality of life and specific symptoms in pediatric NF1 patients is crucial for effective management.
• Existing measurement tools may not fully capture the multifaceted nature of NF1 in young individuals.

Purpose of the Study:

• To evaluate the measurement properties of the Pediatric Quality of Life Inventory (PedsQL) Neurofibromatosis Type 1 (NF1) Module.
• To assess the reliability and validity of the PedsQL NF1 Module from both patient and parent perspectives.
• To determine the suitability of the PedsQL NF1 Module as a standardized metric for NF1 research and clinical practice.

Main Methods:

• A multi-site national study involving 323 patients (ages 5-25) and 335 parents.
• Patients diagnosed with NF1 using NIH criteria completed the 104-item PedsQL NF1 Module and 23-item PedsQL Generic Core Scales.
• Statistical analyses included reliability testing (Cronbach's alpha) and construct validity assessment via intercorrelations and factor analysis.

Main Results:

• The PedsQL NF1 Module demonstrated excellent feasibility and reliability for Total Scale Scores (patient and parent alpha = 0.98).
• Individual scales showed good to excellent reliability (patient alpha = 0.71-0.96; parent alpha = 0.73-0.98).
• Construct validity was supported by intercorrelations with Generic Core Scales, and factor analysis confirmed unidimensionality.

Conclusions:

• The PedsQL NF1 Module possesses acceptable to excellent measurement properties.
• The module is suitable for use as a standardized metric in clinical research and practice for pediatric NF1 patients.
• This tool can effectively assess NF1-specific symptoms and problems in children, adolescents, and young adults with NF1.