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

Pediatric Neurology
Anne M RentzJudith Prestifilippo

Abstract

Tuberous sclerosis complex (TSC) is a multiorgan, autosomal-dominant genetic disorder with incomplete penetrance. This analysis of a web-based survey focuses on the clinical presentation, management, and associated burden of patients with TSC in the United States. 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. Results demonstrate that TSC is associated with significant clinical burden, resource utilization, and decreased mental health well-being.

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Citations

Aug 21, 2016·Pediatric Neurology·E Steve Roach
Jun 13, 2018·Journal of Medical Economics·Anne M SkalickyDavid W Dunn
May 28, 2019·Archives of Disease in Childhood·Choong Yi FongNorazni Yahya
Jan 23, 2020·Orphanet Journal of Rare Diseases·Johann Philipp ZöllnerAdam Strzelczyk
Sep 29, 2020·Frontiers in Neurology·Anna C JansenJ Chris Kingswood
Sep 3, 2020·Journal of Neurodevelopmental Disorders·Petrus J de VriesUNKNOWN TOSCA Consortium and TOSCA Investigators
Sep 25, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Deborah A MarshallKym M Boycott
Nov 14, 2020·Epilepsy & Behavior : E&B·Keith A BettsXiaoran Yang
Jun 2, 2021·Orphanet Journal of Rare Diseases·Elena Cristina De Sautu De BorbónMontserrat Morales Conejo
Sep 16, 2021·PharmacoEconomics Open·Siu Hing LoAndrew Lloyd

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