Original Article The Burden of Subependymal Giant Cell Astrocytomas Associated With Tuberous Sclerosis Complex: Results of a Patient and Caregiver Survey Anne M. Skalicky, MPH 1 , Anne M. Rentz, MSPH 2 , Zhimei Liu, PhD 3 , James W. Wheless, MD 4 , Corey L. Pelletier, PhD 3 , David W. Dunn, MD 5 , Michael D. Frost, MD 6 , JoAnne Nakagawa 7 , Matthew Magestro, MS, MBA 3 , Judith Prestifilippo, MD 3 , and Chris Pashos, PhD 8 Abstract Tuberous sclerosis complex is a genetic disorder characterized by benign tumor growth including lesions in the ventricular system of the brain known as subependymal giant cell astrocytomas. This analysis focuses on the clinical presentation, management, and associated burden of subependymal giant cell astrocytomas in patients with tuberous sclerosis complex in the United States. An institutional review board–approved web-based survey of tuberous sclerosis complex patients and caregivers collected informa- tion, and descriptive analyses were conducted on age-based subgroups. A total of 116 tuberous sclerosis complex–subependymal giant cell astrocytoma patients or caregivers responded (17% of the total tuberous sclerosis complex sample). Mean and median patient ages were 25.5 and 23.5 years. Besides subependymal giant cell astrocytomas, patients also experienced skin lesions (72%), seizures (65%), and cognitive concerns (60%). Forty-five percent reported having brain surgery (22% for subependymal giant cell astrocytoma). In the past year, 42% of patients were admitted at least once to the hospital whereas 39% went to the emergency department. Results demonstrate that tuberous sclerosis complex–subependymal giant cell astrocytoma is associated with significant clinical burden, resource utilization, and decreased well-being. Keywords tuberous sclerosis complex, subependymal giant cell astrocytomas, health-related quality of life, health care utilization Received November 14, 2013. Received revised December 04, 2013. Accepted for publication December 16, 2013. Background Tuberous sclerosis complex is a genetic disorder characterized by benign tumor growth in multiple organs. 1,2 Current estimates place tuberous sclerosis complex–affected births at 1 in 6000. It is projected that nearly 1 to 2 million people worldwide are known to have tuberous sclerosis complex, 3 of whom approximately 25 000 to 50 000 are in the United States. 2,4-6 The most common tumors associated with tuberous sclerosis complex that grow in the brain are subependymal nodules and subependymal giant cell astrocytomas. Subependymal nodules are abnormal, swollen glial cells and multinucleated cells that have an undefined origin (glial or neuronal). They have a tendency to calcify as a patient ages. A subependymal nodule that distinctly increases in size over time should be watched for the possibility of transforming into a sub- ependymal giant cell astrocytoma, a slow-growing brain tumor. Prevalence of subependymal giant cell astrocytoma ranges from 5% to 20% in the tuberous sclerosis complex popula- tion. 7-9 Subependymal giant cell astrocytomas occur most commonly in the first 2 decades of life. Patients whose tumors block the flow of cerebrospinal fluid might experience symp- toms such as vomiting, nausea, and headache, as well as changes in appetite, behavior, and mood. 7,8 Although subepen- dymal giant cell astrocytomas are generally benign, they are a 1 Evidera, Seattle, WA, USA 2 Evidera, Bethesda, MD, USA 3 Novartis Oncology, East Hanover, NJ, USA 4 LeBonheur Children’s Hospital, University of Tennessee, Memphis, TN, USA 5 Riley Hospital for Children, Indianapolis, IN, USA 6 Minnesota Epilepsy Group, St. Paul, MN, USA 7 Tuberous Sclerosis Alliance, Silver Spring, MD, USA 8 United BioSource Corporation, Lexington, MA, USA Corresponding Author: Anne M. Rentz, MSPH, Evidera, 7101 Wisconsin Avenue, Suite 600, Bethesda, MD 20814, USA. Email: Anne.rentz@evidera.com Journal of Child Neurology 2015, Vol. 30(5) 563-569 ª The Author(s) 2014 Reprints and permission: sagepub.com/journalsPermissions.nav DOI: 10.1177/0883073814523318 jcn.sagepub.com