title: The burden of subependymal giant cell astrocytomas associated with tuberous sclerosis complex: results of a patient and caregiver survey.
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 information, 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.
authors.affiliation: Evidera, Seattle, WA, USA.
authors.forename: Anne M
authors.initials: AM
authors.lastname: Skalicky
authors.affiliation: Evidera, Bethesda, MD, USA Anne.rentz@evidera.com.
authors.forename: Anne M
authors.initials: AM
authors.lastname: Rentz
authors.affiliation: Novartis Oncology, East Hanover, NJ, USA.
authors.forename: Zhimei
authors.initials: Z
authors.lastname: Liu
authors.affiliation: LeBonheur Children's Hospital, University of Tennessee, Memphis, TN, USA.
authors.forename: James W
authors.initials: JW
authors.lastname: Wheless
authors.affiliation: Novartis Oncology, East Hanover, NJ, USA.
authors.forename: Corey L
authors.initials: CL
authors.lastname: Pelletier
authors.affiliation: Riley Hospital for Children, Indianapolis, IN, USA.
authors.forename: David W
authors.initials: DW
authors.lastname: Dunn
authors.affiliation: Minnesota Epilepsy Group, St. Paul, MN, USA.
authors.forename: Michael D
authors.initials: MD
authors.lastname: Frost
authors.affiliation: Tuberous Sclerosis Alliance, Silver Spring, MD, USA.
authors.forename: JoAnne
authors.initials: J
authors.lastname: Nakagawa
authors.affiliation: Novartis Oncology, East Hanover, NJ, USA.
authors.forename: Matthew
authors.initials: M
authors.lastname: Magestro
authors.affiliation: Novartis Oncology, East Hanover, NJ, USA.
authors.forename: Judith
authors.initials: J
authors.lastname: Prestifilippo
authors.affiliation: United BioSource Corporation, Lexington, MA, USA.
authors.forename: Chris
authors.initials: C
authors.lastname: Pashos
mesh_terms: D000293:Adolescent; D000328:Adult; D001254:Astrocytoma / Q000191:economics / Q000503:physiopathology* / Q000523:psychology / Q000628:therapy*; D001932:Brain Neoplasms / Q000191:economics / Q000503:physiopathology* / Q000523:psychology / Q000628:therapy*; D017028:Caregivers; D002648:Child; D002675:Child, Preschool; D017281:Cost of Illness; D003430:Cross-Sectional Studies; D006801:Humans; D007223:Infant; D020407:Internet; D008875:Middle Aged; D010342:Patient Acceptance of Health Care; D011788:Quality of Life; D014402:Tuberous Sclerosis / Q000191:economics / Q000503:physiopathology* / Q000523:psychology / Q000628:therapy*; D055815:Young Adult
keywords: health care utilization; health-related quality of life; subependymal giant cell astrocytomas; tuberous sclerosis complex