Abstract
Communication disorders and dysphagia are documented among individuals with neurofibromatosis type 1 (NF1). However, clinical outcome measures typically used to evaluate communication and swallowing are limited as they do not consider the patient’s perspective. Patient-reported outcome measures (PROMs) are validated and standardized questionnaires used to evaluate an individual’s perception of their well-being and health status. They are essential in evidence-based practice (EBP) and patient-centered care. Today there are few PROMs or surveys that assess self-reported communication functioning (CF) and communication-related quality of life (CRQoL). The purpose of this study was to develop surveys to assess self-reported CF, swallowing, and CRQoL for patients with NF1. The survey items were developed after a review of previously published questionnaires and literature documenting areas of concern for individuals with NF1. Feedback on item construction and survey feasibility was obtained from patient representatives and medical professionals from the Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration. The four final pilot surveys included items relating to CF, swallowing, and CRQoL. Surveys were administered to individuals with NF1 during the Spring of 2021. Participants included n=298 individuals with NF1. One sample t-tests indicated statistically significant differences from the test statistics (p<.001) in the areas of speech, language, voice, resonance, social communication, swallowing, and hearing for the adult survey. Additionally, the results found adults with NF1 self-reported concerns with the flow of their speech, and quality of life (QoL) or functioning were impacted by their communication, swallowing, and hearing abilities. Results of this study indicate that information regarding CF, swallowing, and CRQoL can be obtained from an electronically administered survey and that some adults with NF1 report concerns in the areas of CF, swallowing, and CRQoL. Findings of this study can play a role in improved clinical care for adults with NF1.