@article{28e2392fae9545fdb61bad453dd40c47,
title = "Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations",
abstract = "Background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease affecting multiple body systems with wide variability in presentation. In 2013, Pediatric Neurology published articles outlining updated diagnostic criteria and recommendations for surveillance and management of disease manifestations. Advances in knowledge and approvals of new therapies necessitated a revision of those criteria and recommendations. Methods: Chairs and working group cochairs from the 2012 International TSC Consensus Group were invited to meet face-to-face over two days at the 2018 World TSC Conference on July 25 and 26 in Dallas, TX, USA. Before the meeting, working group cochairs worked with group members via e-mail and telephone to (1) review TSC literature since the 2013 publication, (2) confirm or amend prior recommendations, and (3) provide new recommendations as required. Results: Only two changes were made to clinical diagnostic criteria reported in 2013: “multiple cortical tubers and/or radial migration lines” replaced the more general term “cortical dysplasias,” and sclerotic bone lesions were reinstated as a minor criterion. Genetic diagnostic criteria were reaffirmed, including highlighting recent findings that some individuals with TSC are genetically mosaic for variants in TSC1 or TSC2. Changes to surveillance and management criteria largely reflected increased emphasis on early screening for electroencephalographic abnormalities, enhanced surveillance and management of TSC-associated neuropsychiatric disorders, and new medication approvals. Conclusions: Updated TSC diagnostic criteria and surveillance and management recommendations presented here should provide an improved framework for optimal care of those living with TSC and their families.",
keywords = "Diagnostic criteria, Practical guidance, Surveillance and management guidelines, Tuberous sclerosis complex (TSC)",
author = "Hope Northrup and Aronow, {Mary E.} and Bebin, {E. Martina} and John Bissler and Darling, {Thomas N.} and {de Vries}, {Petrus J.} and Frost, {Michael D.} and Zo{\"e} Fuchs and Gosnell, {Elizabeth S.} and Nishant Gupta and Jansen, {Anna C.} and Sergiusz J{\'o}{\'z}wiak and Kingswood, {J. Chris} and Knilans, {Timothy K.} and McCormack, {Francis X.} and Ashley Pounders and Roberds, {Steven L.} and Rodriguez-Buritica, {David F.} and Jonathan Roth and Sampson, {Julian R.} and Steven Sparagana and Thiele, {Elizabeth Anne} and Weiner, {Howard L.} and Wheless, {James W.} and Towbin, {Alexander J.} and Krueger, {Darcy A.} and Annear, {Nicholas M. P.} and Ute Bartels and Moncef Berhouma and Bissler, {John J.} and Klemens Budde and Anna Byars and Harry Chugani and Cowen, {Edward W.} and Crino, {Peter B.} and Paolo Curatolo and {de Vries}, Petrus and Dilling, {Daniel F.} and Dunn, {David W.} and Rosmary Ekong and Ess, {Kevin C.} and Franz, {David N.} and Michael Frost and Fuchs, {Zo{\"e} D. B.} and Elizabeth Gosnell and Lisa Guay-Woodford and Luciana Haddad and Anne Halbert and Hebert, {Adelaide A.} and Henske, {Elizabeth P.} and Holmes, {Gregory L.} and Dena Hook and John Hulbert and Anna Jansen and Johnson, {Simon R.} and Bryan King and Kingswood, {J. Christopher} and Koenig, {Mary Kay} and Bruce Korf and Kwiatkowski, {David J.} and Joel Moss and David Mowat and Kate Mowrey and Rima Nabbout and Nellist, {Mark D.} and Finbar O'Callaghan and Uday Patel and Roach, {E. Steve} and David Rodriguez-Buritica and Robb Romp and Micaela Rozenberg and Ruoss, {Stephen J.} and Mustafa Sahin and Julian Sampson and Samuels, {Joshua A.} and Matthias Sauter and Smith, {Catherine A.} and Keyomaurs Soltani and Shoba Srivastava and Clare Stuart and Teng, {Joyce M. C.} and Thiele, {Elizabeth A.} and Andrew Trout and {van Eeghen}, Agnies and Stephanie Vanclooster and Wang, {Henry Z.} and Mari Wataya-Kaneda and Patricia Witman and Tim Wright and Wu, {Joyce Y.} and Lisa Young and {International Tuberous Sclerosis Complex Consensus Group}",
note = "Funding Information: The meeting of International TSC Consensus Group cochairs and working group cochairs at the 2018 World TSC Conference was sponsored and organized by the TSC Alliance. Sponsors of the 2018 World TSC Conference played no role in the planning and did not attend the meeting of the Consensus Group, and they had no influence on the resulting recommendations. Sponsors of the 2018 World TSC Conference were Novartis Pharmaceuticals, the Rothberg Institute for Childhood Diseases, Upsher-Smith Laboratories, LivaNova, Depomed, Greenwich Biosciences, Mallinckrodt Pharmaceuticals, UCB, Lundbeck, Amneal Pharmaceuticals, Aquestive Pharmaceuticals, MassMutual, Ovid Therapeutics, West Therapeutics Development and Eolas Pharma, WNC & Associates, and many individual and non-for-profit donors to the TSC Alliance. Publisher Copyright: {\textcopyright} 2021 The Authors Copyright: Copyright 2021 Elsevier B.V., All rights reserved.",
year = "2021",
month = oct,
day = "1",
doi = "10.1016/j.pediatrneurol.2021.07.011",
language = "English",
volume = "123",
pages = "50--66",
journal = "Pediatric Neurology",
issn = "0887-8994",
publisher = "Elsevier Inc.",
}