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

Anne M. Rentz, Anne M. Skalicky, Zhimei Liu, James W. Wheless, David Dunn, Michael D. Frost, Joanne Nakagawa, Matthew Magestro, Judith Prestifilippo

Research output: Contribution to journalArticle

19 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)435-441
Number of pages7
JournalPediatric Neurology
Volume52
Issue number4
DOIs
StatePublished - Apr 1 2015

Fingerprint

Tuberous Sclerosis
Health Resources
Health
Mental Health
Inborn Genetic Diseases
Penetrance
Caregivers
Surveys and Questionnaires
Hospital Emergency Service
Seizures
Quality of Life
Pediatrics
Physicians
Kidney
Skin
Neoplasms

Keywords

  • children and adults
  • health care utilization
  • health-related quality of life
  • tuberous sclerosis complex (TSC)

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

Cite this

Rentz, A. M., Skalicky, A. M., Liu, Z., Wheless, J. W., Dunn, D., Frost, M. D., ... Prestifilippo, J. (2015). Tuberous sclerosis complex: A survey of health care resource use and health burden. Pediatric Neurology, 52(4), 435-441. https://doi.org/10.1016/j.pediatrneurol.2014.11.013

Tuberous sclerosis complex : A survey of health care resource use and health burden. / Rentz, Anne M.; Skalicky, Anne M.; Liu, Zhimei; Wheless, James W.; Dunn, David; Frost, Michael D.; Nakagawa, Joanne; Magestro, Matthew; Prestifilippo, Judith.

In: Pediatric Neurology, Vol. 52, No. 4, 01.04.2015, p. 435-441.

Research output: Contribution to journalArticle

Rentz, AM, Skalicky, AM, Liu, Z, Wheless, JW, Dunn, D, Frost, MD, Nakagawa, J, Magestro, M & Prestifilippo, J 2015, 'Tuberous sclerosis complex: A survey of health care resource use and health burden', Pediatric Neurology, vol. 52, no. 4, pp. 435-441. https://doi.org/10.1016/j.pediatrneurol.2014.11.013
Rentz, Anne M. ; Skalicky, Anne M. ; Liu, Zhimei ; Wheless, James W. ; Dunn, David ; Frost, Michael D. ; Nakagawa, Joanne ; Magestro, Matthew ; Prestifilippo, Judith. / Tuberous sclerosis complex : A survey of health care resource use and health burden. In: Pediatric Neurology. 2015 ; Vol. 52, No. 4. pp. 435-441.
@article{95b26add23ed4b75af168d30e792deb9,
title = "Tuberous sclerosis complex: A survey of health care resource use and health burden",
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)",
author = "Rentz, {Anne M.} and Skalicky, {Anne M.} and Zhimei Liu and Wheless, {James W.} and David Dunn and Frost, {Michael D.} and Joanne Nakagawa and Matthew Magestro and Judith Prestifilippo",
year = "2015",
month = "4",
day = "1",
doi = "10.1016/j.pediatrneurol.2014.11.013",
language = "English (US)",
volume = "52",
pages = "435--441",
journal = "Pediatric Neurology",
issn = "0887-8994",
publisher = "Elsevier Inc.",
number = "4",

}

TY - JOUR

T1 - Tuberous sclerosis complex

T2 - A survey of health care resource use and health burden

AU - Rentz, Anne M.

AU - Skalicky, Anne M.

AU - Liu, Zhimei

AU - Wheless, James W.

AU - Dunn, David

AU - Frost, Michael D.

AU - Nakagawa, Joanne

AU - Magestro, Matthew

AU - Prestifilippo, Judith

PY - 2015/4/1

Y1 - 2015/4/1

N2 - 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.

AB - 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.

KW - children and adults

KW - health care utilization

KW - health-related quality of life

KW - tuberous sclerosis complex (TSC)

UR - http://www.scopus.com/inward/record.url?scp=84930432893&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84930432893&partnerID=8YFLogxK

U2 - 10.1016/j.pediatrneurol.2014.11.013

DO - 10.1016/j.pediatrneurol.2014.11.013

M3 - Article

C2 - 25771998

AN - SCOPUS:84930432893

VL - 52

SP - 435

EP - 441

JO - Pediatric Neurology

JF - Pediatric Neurology

SN - 0887-8994

IS - 4

ER -