Austin Stevens, University of Utah
Pediatrics
Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder. It affects 1/3500 individuals worldwide (Friedman, 2002). It is classically characterized as a neurocutaneous disorder, but osseous and spinal abnormalities are clearly associated with NF1. These complications are not well understood and rarely emphasized, even though as high as 38% have been reported to have osseous manifestations (Crawford and Schorry, 1999). In particular, the medical management of scoliosis in NF1 is problematic with no consensus on preferred treatment strategies. More information on the natural history and health-related quality of life are needed before effective therapies can be designed as assessment of treatment efficacy is complex and outcome measures difficult to define. Dr. Stevenson and Dr. Viskochil are part of an NF Consortium focused on developing clinical trials in NF1. However, specific outcome measures are needed for these clinical trials. In particular changes in quality of life are an essential part of clinical trials. Our objective is to determine if specific quality of life instruments can be utilized in the NF1 population for the skeletal manifestations. A battery of these instruments were used given that it was not known which instrument would be most appropriate for the various manifestations of NF1. A total of 129 patients were enrolled in this study, and the relevant questionnaires were administered and recorded. Categorical data of health status will be summarized as frequency distributions and differences among groups will be assessed using chi-square tests of proportions. Frequency distributions for interval-scale variables of health status (e.g., HUI single-attribute utility scores) and HRQL (e.g., HUI multi-attribute utility and PedsQL4.0 summary scores) will be summarized as mean, standard deviation, 95% confidence bounds, median, minimum and maximum. T-tests and analysis of variance techniques (including repeated-measures models) will be used to test differences in means between groups.