Anne M Rentz1, Anne M Skalicky2, Zhimei Liu3, James W Wheless4, David W Dunn5, Michael D Frost6, JoAnne Nakagawa7, Matthew Magestro3, Judith Prestifilippo3. 1. Evidera, Bethesda, Maryland. Electronic address: anne.rentz@evidera.com. 2. Evidera, Seattle, Washington. 3. Novartis Oncology, East Hanover, New Jersey. 4. University of Tennessee Health Science Center, Memphis, Tennessee; Le Bonheur Children's Hospital, Memphis, Tennessee. 5. Riley Hospital for Children, Indianapolis, Indiana. 6. Minnesota Epilepsy Group, St. Paul, Minnesota. 7. Tuberous Sclerosis Alliance, Silver Spring, Maryland.
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.
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 cancerpatients. CONCLUSION: Results demonstrate that TSC is associated with significant clinical burden, resource utilization, and decreased mental health well-being.
Authors: Elena Cristina De Sautu De Borbón; Juan Manuel Guerra Vales; Carlos Lumbreras Bermejo; Felix Guerrero Ramos; María José Buj Padilla; Jesús González de la Aleja; Montserrat Morales Conejo Journal: Orphanet J Rare Dis Date: 2021-05-31 Impact factor: 4.123
Authors: Johann Philipp Zöllner; David Neal Franz; Christoph Hertzberg; Rima Nabbout; Felix Rosenow; Matthias Sauter; Susanne Schubert-Bast; Adelheid Wiemer-Kruel; Adam Strzelczyk Journal: Orphanet J Rare Dis Date: 2020-01-21 Impact factor: 4.123
Authors: Ruben Marques; Elena Belousova; Mirjana P Benedik; Tom Carter; Vincent Cottin; Paolo Curatolo; Maria Dahlin; Lisa D'Amato; Guillaume Beaure d'Augères; Petrus J de Vries; José C Ferreira; Martha Feucht; Carla Fladrowski; Christoph Hertzberg; Sergiusz Jozwiak; John A Lawson; Alfons Macaya; Rima Nabbout; Finbar O'Callaghan; Jiong Qin; Valentin Sander; Matthias Sauter; Seema Shah; Yukitoshi Takahashi; Renaud Touraine; Sotiris Youroukos; Bernard Zonnenberg; John C Kingswood; Anna C Jansen Journal: Front Neurol Date: 2019-10-25 Impact factor: 4.003
Authors: Stephanie Vanclooster; Stacey Bissell; Agnies M van Eeghen; Nola Chambers; Liesbeth De Waele; Anna W Byars; Jamie K Capal; Sebastián Cukier; Peter Davis; Jennifer Flinn; Sugnet Gardner-Lubbe; Tanjala Gipson; Tosca-Marie Heunis; Dena Hook; J Christopher Kingswood; Darcy A Krueger; Aubrey J Kumm; Mustafa Sahin; Eva Schoeters; Catherine Smith; Shoba Srivastava; Megumi Takei; Robert Waltereit; Anna C Jansen; Petrus J de Vries Journal: J Neurodev Disord Date: 2022-02-13 Impact factor: 4.025
Authors: Petrus J de Vries; Elena Belousova; Mirjana P Benedik; Tom Carter; Vincent Cottin; Paolo Curatolo; Lisa D'Amato; Guillaume Beure d'Augères; José C Ferreira; Martha Feucht; Carla Fladrowski; Christoph Hertzberg; Sergiusz Jozwiak; John A Lawson; Alfons Macaya; Ruben Marques; Rima Nabbout; Finbar O'Callaghan; Jiong Qin; Valentin Sander; Matthias Sauter; Seema Shah; Yukitoshi Takahashi; Renaud Touraine; Sotiris Youroukos; Bernard Zonnenberg; J Chris Kingswood; Anna C Jansen Journal: J Neurodev Disord Date: 2020-09-01 Impact factor: 4.025