Understanding the Neurofibromatosis Type 1 (NF1) experience and the priorities of individuals with NF1 and their caregivers for cognitive and social-emotional research

Abstract

BackgroundPatient engagement is increasingly recognized as a valuable, essential aspect of Neurofibromatosis research given the unique experiences and morbidities associated with the diagnosis. Engaging patients and families can enhance the relevance, methodology, and feasibility of clinical trials. MethodsA REDCap survey ascertaining information on NF-related morbidities, priorities, and interests in cognitive and social-emotional research, and willingness to participate in research was dispensed to 4,565 individuals consented to the Children's Tumor Foundation (CTF) Registry with NF1. This included children and adults with NF1 and parents/caregivers of children with NF1. Results525 individuals fully completed the survey: 295 parents/caregivers (Mage child = 10.12, range = 3–24), 194 adults with NF1 (Mage = 45.73, range = 19–81), and 36 children with NF1 (Mage = 12.61, range = 10–17). Less than 10% of respondents have participated in cognitive research, while 42.4–49.5% indicated having sought opportunities for cognitive research. Most (79.4–82.4%) respondents reported that cognitive research is very/extremely important, with learning/academics and emotional functioning were priorities. Willingness to participate in research aligned with areas of importance. ConclusionAnalysis highlights that most survey respondents believe cognitive and social-emotional research is very important, but a relatively small number have participated. This finding may highlight poor dissemination of information of research opportunities to the broader NF community and limitations to access based on geography or other factors. Respondents indicate that learning/academic problems and emotional challenges to be research priorities. Continuing to engage patients and families with NF is expected to enhance the value and engagement in cognitive research.