title: Tuberous sclerosis complex: a survey of health care resource use and health burden.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  Results demonstrate that TSC is associated with significant clinical burden, resource utilization, and decreased mental health well-being.
authors.affiliation: Evidera, Bethesda, Maryland. Electronic address: anne.rentz@evidera.com.
authors.forename: Anne M
authors.initials: AM
authors.lastname: Rentz
authors.affiliation: Evidera, Seattle, Washington.
authors.forename: Anne M
authors.initials: AM
authors.lastname: Skalicky
authors.affiliation: Novartis Oncology, East Hanover, New Jersey.
authors.forename: Zhimei
authors.initials: Z
authors.lastname: Liu
authors.affiliation: University of Tennessee Health Science Center, Memphis, Tennessee; Le Bonheur Children's Hospital, Memphis, Tennessee.
authors.forename: James W
authors.initials: JW
authors.lastname: Wheless
authors.affiliation: Riley Hospital for Children, Indianapolis, Indiana.
authors.forename: David W
authors.initials: DW
authors.lastname: Dunn
authors.affiliation: Minnesota Epilepsy Group, St. Paul, Minnesota.
authors.forename: Michael D
authors.initials: MD
authors.lastname: Frost
authors.affiliation: Tuberous Sclerosis Alliance, Silver Spring, Maryland.
authors.forename: JoAnne
authors.initials: J
authors.lastname: Nakagawa
authors.affiliation: Novartis Oncology, East Hanover, New Jersey.
authors.forename: Matthew
authors.initials: M
authors.lastname: Magestro
authors.affiliation: Novartis Oncology, East Hanover, New Jersey.
authors.forename: Judith
authors.initials: J
authors.lastname: Prestifilippo
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D017281:Cost of Illness; D003430:Cross-Sectional Studies; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D020407:Internet; D008297:Male; D008875:Middle Aged; D010342:Patient Acceptance of Health Care / Q000706:statistics & numerical data*; D011569:Psychiatric Status Rating Scales; D011788:Quality of Life; D014402:Tuberous Sclerosis / Q000150:complications / Q000503:physiopathology / Q000523:psychology / Q000628:therapy*; D014481:United States; D055815:Young Adult
keywords: children and adults; health care utilization; health-related quality of life; tuberous sclerosis complex (TSC)