Translation and Cultural Adaptation of the PedsQL Neurofibromatosis Module, Version 3.0, Into Brazilian Portuguese

Introduction: Neurofibromatosis type 1 (NF1) is a prevalent genetic disorder for which no pharmacological treatment is currently available. It affects approximately 1 in 3,000 live births, with an estimated 80,000 individuals living with the condition in Brazil. Benign tumors, such as plexiform neurofibromas, can substantially impair both physical function and appearance. Additionally, patients can present behavioral and cognitive challenges, including language impairments, learning disabilities, hyperactivity, autism spectrum symptoms, and depression. The quality of life of affected individuals is largely influenced by clinical, psychological, and social factors. Quality-of-life assessment cannot rely solely on clinical observation; it requires direct input from patients and their families. Validated instruments, such as the PedsQL NF1 Module, are essential to objectively capture these perspectives. Objective: To translate and culturally adapt the Scaling and Scoring of the Pediatric Quality of Life Inventory (PedsQL) Neurofibromatosis Module into Brazilian Portuguese for children, adolescents, and young adults with NF1 (ages 5-25), as well as their parents or caregivers. Methods: The study followed four phases: (1) translation into Portuguese; (2) back-translation into English; (3) expert review by physicians and nurses from multiple regions of Brazil; and (4) pilot testing with NF1 patients. Expert evaluation included the Content Validity Index (CVI) and Kappa coefficient to assess agreement and reliability. Results: The PedsQL NF1 Module was successfully translated and culturally adapted for Brazilian patients aged 5-25 years. The results showed satisfactory CVI (0.75) and Kappa (0.6) values. Minor adjustments were made to the caregiver version to improve comprehension, e.g., replacing fear with is afraid for better contextual meaning. The pilot study included 42 patients and 46 caregivers. Five patients with behavioral conditions (autism spectrum disorder or hyperactivity) were unable to complete the questionnaire. Conclusions: The translation, cultural adaptation, and pre-testing of the PedsQL NF1 Module were successfully completed. The instrument demonstrated acceptable content validity and inter-rater agreement, supporting its applicability for Brazilian patients and caregivers.