Tuberous sclerosis complex diagnostic criteria update

Recommendations of the 2012 international tuberous sclerosis complex consensus conference

International Tuberous Sclerosis Complex Consensus Group

Research output: Contribution to journalArticle

513 Citations (Scopus)

Abstract

Background Tuberous sclerosis complex is highly variable in clinical presentation and findings. Disease manifestations continue to develop over the lifetime of an affected individual. Accurate diagnosis is fundamental to implementation of appropriate medical surveillance and treatment. Although significant advances have been made in the past 15 years in the understanding and treatment of tuberous sclerosis complex, current clinical diagnostic criteria have not been critically evaluated or updated since the last clinical consensus conference in 1998. Methods The 2012 International Tuberous Sclerosis Complex Consensus Group, comprising 79 specialists from 14 countries, was organized into 12 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 diagnostic implications and was charged with reviewing prevalence and specificity of disease-associated clinical findings and their impact on suspecting and confirming the diagnosis of tuberous sclerosis complex. Results Clinical features of tuberous sclerosis complex continue to be a principal means of diagnosis. Key changes compared with 1998 criteria are the new inclusion of genetic testing results and reducing diagnostic classes from three (possible, probable, and definite) to two (possible, definite). Additional minor changes to specific criterion were made for additional clarification and simplification. Conclusions The 2012 International Tuberous Sclerosis Complex Diagnostic Criteria provide current, updated means using best available evidence to establish diagnosis of tuberous sclerosis complex in affected individuals.

Original languageEnglish (US)
Pages (from-to)243-254
Number of pages12
JournalPediatric Neurology
Volume49
Issue number4
DOIs
StatePublished - Oct 1 2013

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Tuberous Sclerosis
Genetic Testing

All Science Journal Classification (ASJC) codes

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

Cite this

Tuberous sclerosis complex diagnostic criteria update : 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. 243-254.

Research output: Contribution to journalArticle

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title = "Tuberous sclerosis complex diagnostic criteria update: Recommendations of the 2012 international tuberous sclerosis complex consensus conference",
abstract = "Background Tuberous sclerosis complex is highly variable in clinical presentation and findings. Disease manifestations continue to develop over the lifetime of an affected individual. Accurate diagnosis is fundamental to implementation of appropriate medical surveillance and treatment. Although significant advances have been made in the past 15 years in the understanding and treatment of tuberous sclerosis complex, current clinical diagnostic criteria have not been critically evaluated or updated since the last clinical consensus conference in 1998. Methods The 2012 International Tuberous Sclerosis Complex Consensus Group, comprising 79 specialists from 14 countries, was organized into 12 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 diagnostic implications and was charged with reviewing prevalence and specificity of disease-associated clinical findings and their impact on suspecting and confirming the diagnosis of tuberous sclerosis complex. Results Clinical features of tuberous sclerosis complex continue to be a principal means of diagnosis. Key changes compared with 1998 criteria are the new inclusion of genetic testing results and reducing diagnostic classes from three (possible, probable, and definite) to two (possible, definite). Additional minor changes to specific criterion were made for additional clarification and simplification. Conclusions The 2012 International Tuberous Sclerosis Complex Diagnostic Criteria provide current, updated means using best available evidence to establish diagnosis of tuberous sclerosis complex in affected individuals.",
author = "{International Tuberous Sclerosis Complex Consensus Group} and Hope Northrup and Krueger, {Darcy 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.} and Koenig, {M. K.}",
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T1 - Tuberous sclerosis complex diagnostic criteria update

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

AU - International Tuberous Sclerosis Complex Consensus Group

AU - Northrup, Hope

AU - Krueger, Darcy 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.

AU - Koenig, M. K.

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N2 - Background Tuberous sclerosis complex is highly variable in clinical presentation and findings. Disease manifestations continue to develop over the lifetime of an affected individual. Accurate diagnosis is fundamental to implementation of appropriate medical surveillance and treatment. Although significant advances have been made in the past 15 years in the understanding and treatment of tuberous sclerosis complex, current clinical diagnostic criteria have not been critically evaluated or updated since the last clinical consensus conference in 1998. Methods The 2012 International Tuberous Sclerosis Complex Consensus Group, comprising 79 specialists from 14 countries, was organized into 12 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 diagnostic implications and was charged with reviewing prevalence and specificity of disease-associated clinical findings and their impact on suspecting and confirming the diagnosis of tuberous sclerosis complex. Results Clinical features of tuberous sclerosis complex continue to be a principal means of diagnosis. Key changes compared with 1998 criteria are the new inclusion of genetic testing results and reducing diagnostic classes from three (possible, probable, and definite) to two (possible, definite). Additional minor changes to specific criterion were made for additional clarification and simplification. Conclusions The 2012 International Tuberous Sclerosis Complex Diagnostic Criteria provide current, updated means using best available evidence to establish diagnosis of tuberous sclerosis complex in affected individuals.

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JO - Pediatric Neurology

JF - Pediatric Neurology

SN - 0887-8994

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