Tuberous Sclerosis Complex Surveillance and Management: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference
| Autor: | Darcy A. Krueger, Hope Northrup, Steven Roberds, Katie Smith, Julian Sampson, Bruce Korf, David J. Kwiatkowski, David Mowat, Mark Nellist, Sue Povey, Petrus de Vries, Anna Byars, David Dunn, Kevin Ess, Dena Hook, Anna Jansen, Bryan King, Mustafa Sahin, Vicky Whittemore, Elizabeth Thiele, E. Martina Bebin, Harry T. Chugani, Peter Crino, Paolo Curatolo, Greg Holmes, Rima Nabbout, Finbar O'Callaghan, James Wheless, Joyce Wu, Thomas N. Darling, Edward W. Cowen, Elizabeth Gosnell, Adelaide Hebert, Greg Mlynarczyk, Keyomaurs Soltani, Joyce Teng, Mari Wataya-Kaneda, Patricia M. Witman, Chris Kingswood, John Bissler, Klemens Budde, John Hulbert, Lisa Guay-Woodford, Matthias Sauter, Bernard Zonneberg, Sergiusz Jóźwiak, Ute Bartels, Moncef Berhouma, David Neal Franz, Mary Kay Koenig, E. Steve Roach, Jonathan Roth, Henry Wang, Howard Weiner, Francis X. McCormack, Khalid Almoosa, Alan Brody, Charles Burger, Vincent Cottin, Geraldine Finlay, Jennifer Glass, Elizabeth Petri Henske, Simon Johnson, Robert Kotloff, David Lynch, Joel Moss, Karen Smith, Jay Rhu, Angelo Taveira Da Silva, Lisa R. Young, Timothy Knilans, Robert Hinton, Ashwin Prakash, Robb Romp, Arun D. Singh, Ashish DebRoy, Pei-Lung Chen, Steven Sparagana, Michael D. Frost |
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| Rok vydání: | 2013 |
| Předmět: |
medicine.medical_specialty
Internationality Clinical Neurology tuberous sclerosis Disease Subspecialty Scientific evidence Tuberous sclerosis Developmental Neuroscience medicine Humans Pediatrics Perinatology and Child Health treatment Subependymal giant cell astrocytoma business.industry Genetic disorder Consensus conference Disease Management food and beverages Guideline medicine.disease Neurology Population Surveillance Family medicine Practice Guidelines as Topic Pediatrics Perinatology and Child Health surveillance Physical therapy Neurology (clinical) business guideline management |
| Zdroj: | Pediatric Neurology. 49(4):255-265 |
| ISSN: | 0887-8994 |
| DOI: | 10.1016/j.pediatrneurol.2013.08.002 |
| Popis: | BackgroundTuberous sclerosis complex is a genetic disorder affecting every organ system, but disease manifestations vary significantly among affected individuals. The diverse and varied presentations and progression can be life-threatening with significant impact on cost and quality of life. Current surveillance and management practices are highly variable among region and country, reflective of the fact that last consensus recommendations occurred in 1998 and an updated, comprehensive standard is lacking that incorporates the latest scientific evidence and current best clinical practices.MethodsThe 2012 International Tuberous Sclerosis Complex Consensus Group, comprising 79 specialists from 14 countries, was organized into 12 separate subcommittees, each led by a clinician with advanced expertise in tuberous sclerosis complex and the relevant medical subspecialty. Each subcommittee focused on a specific disease area with important clinical management implications and was charged with formulating key clinical questions to address within its focus area, reviewing relevant literature, evaluating the strength of data, and providing a recommendation accordingly.ResultsThe updated consensus recommendations for clinical surveillance and management in tuberous sclerosis complex are summarized here. The recommendations are relevant to the entire lifespan of the patient, from infancy to adulthood, including both individuals where the diagnosis is newly made as well as individuals where the diagnosis already is established.ConclusionsThe 2012 International Tuberous Sclerosis Complex Consensus Recommendations provide an evidence-based, standardized approach for optimal clinical care provided for individuals with tuberous sclerosis complex. |
| Databáze: | OpenAIRE |
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