Neurofibromatosis

Neurofibromatosis type 1 (NF1) is an inherited tumor predisposition syndrome with multiple manifestations in children and adults. Due to the multisystemic nature of this syndrome there are multidisciplinary NF1 clinics in many major centres in the United States; however, this is not yet the trend in Canada. Our study seeks to gain understanding of the current state of health surveillance in children with NF1 in Southwestern Ontario, which medical disciplines are involved in their care and parental interest in a future multidisciplinary clinic at London Health Sciences Centre (LHSC). Methods: 50 parents or guardians of pediatric NF1 patients completed a 39-question telephone interview pertaining to diagnosis, aspects of yearly screening and willingness to attend a multidisciplinary clinic. Responses were then compared to the current screening guidelines for the pediatric NF1 population as suggested by the American Academy of Pediatrics. Results: Only 56% of patients receive an annual neurological exam, while over 87% are having yearly blood pressure screens. 40% of patients cite their medical geneticist as the main coordinator of their care, while 12% cite no coordination of care. 48% of families travel more than 50 km to LHSC, with the majority visiting >3 times per year. 96% of participants are interested in participating in a multidisciplinary clinic. Conclusions: The results obtained from this study support the development of a multidisciplinary NF1 clinic at LHSC.