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Publication Detail
Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations
  • Publication Type:
    Journal article
  • Authors:
    Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, Frost MD, Fuchs Z, Gosnell ES, Gupta N, Jansen AC, Jóźwiak S, Kingswood JC, Knilans TK, McCormack FX, Pounders A, Roberds SL, Rodriguez-Buritica DF, Roth J, Sampson JR, Sparagana S, Thiele EA, Weiner HL, Wheless JW, Towbin AJ, Krueger DA, Annear NMP, Bartels U, Berhouma M, Bissler JJ, Budde K, Byars A, Chugani H, Cowen EW, Crino PB, Curatolo P, de Vries P, Dilling DF, Dunn DW, Ekong R, Ess KC, Franz DN, Frost M, Fuchs ZDB, Guay-Woodford L, Haddad L, Halbert A, Hebert AA, Henske EP, Holmes GL, Hook D, Hulbert J, Jansen A, Johnson SR, King B, Kingswood JC, Koenig MK, Korf B, Kwiatkowski DJ, Moss J, Mowat D, Mowrey K, Nabbout R, Nellist MD, O'Callaghan F, Patel U, Roach ES, Romp R, Rozenberg M, Ruoss SJ, Sahin M, Sampson J, Samuels JA, Sauter M, Smith CA, Soltani K, Srivastava S, Stuart C, Teng JMC, Thiele EA, Trout A, van Eeghen A, Vanclooster S, Wang HZ, Wataya-Kaneda M, Witman P, Wright T, Wu JY, Young L
  • Publication date:
  • Pagination:
    50, 66
  • Journal:
    Pediatric Neurology
  • Volume:
  • Status:
  • Language:
  • Notes:
    This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
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.
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