Tuberous sclerosis complex: a survey of health care resource use and health burden

Pediatr Neurol. 2015 Apr;52(4):435-41. doi: 10.1016/j.pediatrneurol.2014.11.013. Epub 2014 Nov 29.

Abstract

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.

Keywords: children and adults; health care utilization; health-related quality of life; tuberous sclerosis complex (TSC).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Child
  • Child, Preschool
  • Cost of Illness*
  • Cross-Sectional Studies
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Internet
  • Male
  • Middle Aged
  • Patient Acceptance of Health Care / statistics & numerical data*
  • Psychiatric Status Rating Scales
  • Quality of Life
  • Tuberous Sclerosis / complications
  • Tuberous Sclerosis / physiopathology
  • Tuberous Sclerosis / psychology
  • Tuberous Sclerosis / therapy*
  • United States
  • Young Adult