Tuberous sclerosis complex surveillance and management

Recommendations of the 2012 international tuberous sclerosis complex consensus conference

International Tuberous Sclerosis Complex Consensus Group

Research output: Contribution to journalArticle

332 Citations (Scopus)

Abstract

Background Tuberous 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. Methods The 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. Results The 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. Conclusions The 2012 International Tuberous Sclerosis Complex Consensus Recommendations provide an evidence-based, standardized approach for optimal clinical care provided for individuals with tuberous sclerosis complex.

Original languageEnglish (US)
Pages (from-to)255-265
Number of pages11
JournalPediatric Neurology
Volume49
Issue number4
DOIs
StatePublished - Oct 1 2013

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Tuberous Sclerosis
Inborn Genetic Diseases
Practice Management
Practice Guidelines
Quality of Life
Costs and Cost Analysis

All Science Journal Classification (ASJC) codes

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

Cite this

Tuberous sclerosis complex surveillance and management : Recommendations of the 2012 international tuberous sclerosis complex consensus conference. / International Tuberous Sclerosis Complex Consensus Group.

In: Pediatric Neurology, Vol. 49, No. 4, 01.10.2013, p. 255-265.

Research output: Contribution to journalArticle

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title = "Tuberous sclerosis complex surveillance and management: Recommendations of the 2012 international tuberous sclerosis complex consensus conference",
abstract = "Background Tuberous 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. Methods The 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. Results The 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. Conclusions The 2012 International Tuberous Sclerosis Complex Consensus Recommendations provide an evidence-based, standardized approach for optimal clinical care provided for individuals with tuberous sclerosis complex.",
author = "{International Tuberous Sclerosis Complex Consensus Group} and Krueger, {Darcy A.} and Hope Northrup and Krueger, {D. A.} and S. Roberds and K. Smith and J. Sampson and B. Korf and Kwiatkowski, {D. J.} and D. Mowat and M. Nellist and S. Povey and {de Vries}, P. and A. Byars and D. Dunn and K. Ess and D. Hook and A. Jansen and B. King and M. Sahin and V. Whittemore and E. Thiele and Bebin, {E. M.} and Chugani, {H. T.} and P. Crino and P. Curatolo and G. Holmes and R. Nabbout and F. O'Callaghan and J. Wheless and J. Wu and Darling, {T. N.} and James Wheless and E. Gosnell and A. Hebert and G. Mlynarczyk and K. Soltani and J. Teng and M. Wataya-Kaneda and Witman, {P. M.} and C. Kingswood and J. Bissler and K. Budde and J. Hulbert and John Bissler and M. Sauter and B. Zonneberg and S. J{\'o}źwiak and U. Bartels and M. Berhouma and Franz, {D. N.}",
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T1 - Tuberous sclerosis complex surveillance and management

T2 - Recommendations of the 2012 international tuberous sclerosis complex consensus conference

AU - International Tuberous Sclerosis Complex Consensus Group

AU - Krueger, Darcy A.

AU - Northrup, Hope

AU - Krueger, D. A.

AU - Roberds, S.

AU - Smith, K.

AU - Sampson, J.

AU - Korf, B.

AU - Kwiatkowski, D. J.

AU - Mowat, D.

AU - Nellist, M.

AU - Povey, S.

AU - de Vries, P.

AU - Byars, A.

AU - Dunn, D.

AU - Ess, K.

AU - Hook, D.

AU - Jansen, A.

AU - King, B.

AU - Sahin, M.

AU - Whittemore, V.

AU - Thiele, E.

AU - Bebin, E. M.

AU - Chugani, H. T.

AU - Crino, P.

AU - Curatolo, P.

AU - Holmes, G.

AU - Nabbout, R.

AU - O'Callaghan, F.

AU - Wheless, J.

AU - Wu, J.

AU - Darling, T. N.

AU - Wheless, James

AU - Gosnell, E.

AU - Hebert, A.

AU - Mlynarczyk, G.

AU - Soltani, K.

AU - Teng, J.

AU - Wataya-Kaneda, M.

AU - Witman, P. M.

AU - Kingswood, C.

AU - Bissler, J.

AU - Budde, K.

AU - Hulbert, J.

AU - Bissler, John

AU - Sauter, M.

AU - Zonneberg, B.

AU - Jóźwiak, S.

AU - Bartels, U.

AU - Berhouma, M.

AU - Franz, D. N.

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N2 - Background Tuberous 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. Methods The 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. Results The 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. Conclusions The 2012 International Tuberous Sclerosis Complex Consensus Recommendations provide an evidence-based, standardized approach for optimal clinical care provided for individuals with tuberous sclerosis complex.

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JO - Pediatric Neurology

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