Abstracts

Rationale: Tuberous sclerosis complex (TSC) is a multi-system genetic disorder characterized by pervasive benign tumors in multiple organs throughout the body, including the brain, kidneys, lungs, skin, heart, and eyes. Epilepsy, one of the hallmark manifestations of TSC, is present in approximately 66% 93% of cases. There is a lack of data that characterize the economic burden associated with epilepsy and TSC. The objective of this study was to characterize resource utilization for the period of 5 years after diagnosis in children with TSC.Methods: A retrospective chart review was conducted at an epilepsy clinic in the United States. Patients with a confirmed diagnosis of TSC and at least 6 months of data following diagnosis were included; data from 1973 2010 were collected for up to 5 years post-TSC diagnosis, including demographics, hospitalizations, surgeries, testing, and rehabilitation services. Each chart was assigned a unique identification number, and de-identified data were entered into a secure, web-based, HIPAA-compliant data collection tool. Descriptive statistics (eg, means, frequencies, etc) were generated based on the characteristics of the particular variable of interest and followed generally accepted conventions.Results: Twelve months of data post-diagnosis were collected from 115 patient charts. Males accounted for 52% of the sample; the mean age at diagnosis was 3.6 years, 60% by age 1. In these patients during the 5-year period post-TSC diagnosis, 35% had TSC genetic testing, 76% had a hospitalization with an average length of stay of 6 days. Surgeries were reported in 28.7% of patients, with 7.8% having resective surgery. Testing by MRI, EEG, and CT scan was done in 91.3%, 87.8%, and 53.9% of patients, respectively; 46% had 3 or more head MRIs. For rehabilitation services, speech language pathology was provided to 30.4% of patients; occupational and physical therapies were provided in 29.6% and 27.8% of patients, respectively. A total of 27% had more than 5 tests completed within the first 5 years after diagnosis; 61% had 3 5 tests (Figure 1). There were 92 patients who had a full 5 years of data; in these patients, the use of hospitalizations, ICU stays, diagnostic testing, and rehabilitation services decreased by at least 50% over the 5-year period (Table 1).Conclusions: Diagnosis and management of TSC requires a specialized, multidisciplinary approach. Resource utilization is cost-intensive, particularly during the first few years following diagnosis. These data suggest resource utilization is a major component of expenditure in the treatment of TSC in children. Further study of direct and indirect costs will help to characterize the true humanistic and economic burden of TSC. The authors acknowledge the contributions of Lindsey Reese, RN and Catherine Folland, RN of the Minnesota Epilepsy Group in the conduct of this study. This study was supported by Novartis Pharmaceuticals Corporation.