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Disease burden associated with tuberous sclerosis complex, a genetic disorder characterized by benign tumor growth including lesions in multiple organs, puts tremendous demands on families. This analysis examines the physical and mental health burden of tuberous sclerosis complex caregivers in the United States. An institutional review board–approved web-based survey of tuberous sclerosis complex caregivers collected information; descriptive analyses were conducted on age-based subgroups. A total of 275 caregivers of tuberous sclerosis complex patients responded. Mean patient age ≤18 years was 6.9 (±4.4) and 42.3 (±18.2) for patients >18 years of age. Caregivers reported multiple tuberous sclerosis complex manifestations and high health care utilization for patients. Caregivers spending more time on doctor visits or researching tuberous sclerosis complex had lower physical and mental health–related quality of life scores and more depressive symptoms. Tuberous sclerosis complex caregivers had significantly lower physical and mental health–related quality of life scores and more depressive symptomatology compared to US healthy adult population norms. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM PUBLISHER]

Purpose Tuberous sclerosis complex (TSC) is a multiorgan, autosomal-dominant genetic disorder with incomplete penetrance. Methods This analysis of a web-based survey focuses on the clinical presentation, management, and associated burden of patients with TSC in the United States. Results A total of 676 TSC patients or caregivers responded. Both pediatric and adult patient groups experienced skin lesions (77% and 44%), seizures (77% and 24%), and kidney complications (33% and 25%) as well as other manifestations. Patient groups averaged 22 visits to a physician, nine procedures/tests, two emergency room visits, and two hospital admissions in the past year. Standardized tests were administered for health-related quality of life and TSC patients reported significantly worse mental health scores and better physical health scores compared to a normative sample of cancer patients. Conclusion Results demonstrate that TSC is associated with significant clinical burden, resource utilization, and decreased mental health well-being. [ABSTRACT FROM AUTHOR]