Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations

Autor: Hope Northrup, Mary E. Aronow, E. Martina Bebin, John Bissler, Thomas N. Darling, Petrus J. de Vries, Michael D. Frost, Zoë Fuchs, Elizabeth S. Gosnell, Nishant Gupta, Anna C. Jansen, Sergiusz Jóźwiak, J. Chris Kingswood, Timothy K. Knilans, Francis X. McCormack, Ashley Pounders, Steven L. Roberds, David F. Rodriguez-Buritica, Jonathan Roth, Julian R. Sampson, Steven Sparagana, Elizabeth Anne Thiele, Howard L. Weiner, James W. Wheless, Alexander J. Towbin, Darcy A. Krueger, Nicholas M.P. Annear, Ute Bartels, Moncef Berhouma, John J. Bissler, Klemens Budde, Anna Byars, Harry Chugani, Edward W. Cowen, Peter B. Crino, Paolo Curatolo, Petrus de Vries, Daniel F. Dilling, David W. Dunn, Rosmary Ekong, Kevin C. Ess, David N. Franz, Michael Frost, Zoë D.B. Fuchs, Elizabeth Gosnell, Lisa Guay-Woodford, Luciana Haddad, Anne Halbert, Adelaide A. Hebert, Elizabeth P. Henske, Gregory L. Holmes, Dena Hook, John Hulbert, Anna Jansen, Simon R. Johnson, Bryan King, J. Christopher Kingswood, Mary Kay Koenig, Bruce Korf, David J. Kwiatkowski, Joel Moss, David Mowat, Kate Mowrey, Rima Nabbout, Mark D. Nellist, Finbar O'Callaghan, Uday Patel, E. Steve Roach, David Rodriguez-Buritica, Robb Romp, Micaela Rozenberg, Stephen J. Ruoss, Mustafa Sahin, Julian Sampson, Joshua A. Samuels, Matthias Sauter, Catherine A. Smith, Keyomaurs Soltani, Shoba Srivastava, Clare Stuart, Joyce M.C. Teng, Elizabeth A. Thiele, Andrew Trout, Agnies van Eeghen, Stephanie Vanclooster, Henry Z. Wang, Mari Wataya-Kaneda, Patricia Witman, Tim Wright, Joyce Y. Wu, Lisa Young
Přispěvatelé: Pediatric surgery, Public Health Sciences, Mental Health and Wellbeing research group, Neurogenetics, Neuroprotection & Neuromodulation, Pediatrics
Rok vydání: 2021
Předmět:
Zdroj: Pediatric Neurology, 123, 50-66. Elsevier Inc.
International Tuberous Sclerosis Complex Consensus Group 2021, ' Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations ', Pediatric Neurology, vol. 123, pp. 50-66 . https://doi.org/10.1016/j.pediatrneurol.2021.07.011
ISSN: 1873-5150
0887-8994
DOI: 10.1016/j.pediatrneurol.2021.07.011
Popis: Background\ud 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.\ud Methods\ud 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.\ud Results\ud 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.\ud Conclusions\ud 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.
Databáze: OpenAIRE
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