MS, University of Cincinnati, 2018, Medicine: Genetic Counseling
OBJECTIVE: Individuals with Neurofibromatosis Type 1 (NF1) and Costello syndrome (CS) present with pain from various sources. This pain can be associated with concurrent clinical pain conditions (e.g., migraine headaches, postoperative pain from corrective surgeries) in addition to pain associated with features of the disorder (e.g., plexiform neurofibromas). A limited number of studies have investigated these population's pain experience, resulting in an incomplete description of their pain experience. The purpose of this study is to elucidate the pain experience by examining the following variables of pain: perceived burden of pain, source, location, intensity, chronicity, frequency, and qualitative description.
METHODS: The Numeric Rating Scale 11 (NRS11), Patient Reported Outcomes Measurement Information system (PROMIS) survey, and a supplemental survey created for this study were administered to individuals between the ages of 8-60 years. Participants and controls, usually unaffected relatives, were recruited from Neurofibromatosis (NF) Clinic at Cincinnati Children's Hospital Medical Center (CCHMC), CCHMC general genetics clinics, the 10th International Costello Syndrome Family Forum, and the annual Cincinnati NF walk. Chi2, Fisher's Exact, and Wilcoxon ranked sum tests were used to analyze our variables.
RESULTS: One-hundred-forty-nine participants (41 with NF1, 19 with CS, and 89 controls) partook in the survey between May 2017 and January 2018. Chronic pain, pain lasting 3 months or longer, was present in adults with NF1 (72%), children with NF1 (30%), adults with CS (30%) and children with CS (56%). Adults with NF1 (p=0.009) and children with CS (p=0.02) experienced more chronic pain than controls. Adults (p=0.003) and children (p=0.003) with NF1 experienced a higher intensity of pain. Pain interference (PROMIS score) was higher in NF1 adults compared to controls (p=0.01). Compared to controls, children with CS (p=0.01) had higher pain intensity a (open full item for complete abstract)
Committee: Elizabeth Schorry M.D. (Committee Chair); Christopher King Ph.D. (Committee Member); Lisa Martin Ph.D. (Committee Member); Carlos Prada M.D. (Committee Member); Emily Wakefield M.S. (Committee Member); Nicole Weaver M.D. (Committee Member)
Subjects: Genetics