Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request

Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations

Item request has been placed! ×
Item request cannot be made. ×
loading   Processing Request
اقرأ أكثر حفظ في قائمتي
  • معلومة اضافية
    • بيانات النشر:
      Elsevier
    • الموضوع:
      2021
    • Collection:
      Cardiff University: ORCA (Online Research @ Cardiff)
    • نبذة مختصرة :
      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.
    • File Description:
      application/pdf
    • Relation:
      https://orca.cardiff.ac.uk/id/eprint/144095/1/SAMPSON,%20JULIAN%20-%20Updated%20International%20Tuberous%20Sclerosis%20Complex%20Diagnostic%20Criteria%20and%20Surveillance%20and%20Management%20Recommendations.pdf; Northrup, Hope, Aronow, Mary E., Bebin, E. Martina, Bissler, John, Darling, Thomas N., de Vries, Petrus J., Frost, Michael D., Fuchs, Zoë, Gosnell, Elizabeth S., Gupta, Nishant, Jansen, Anna C., Jówiak, Sergiusz, Kingswood, J. Chris, Knilans, Timothy K., McCormack, Francis X., Pounders, Ashley, Roberds, Steven L., Rodriguez-Buritica, David F., Roth, Jonathan, Sampson, Julian R. https://orca.cardiff.ac.uk/view/cardiffauthors/A0160820.html orcid:0000-0002-2902-2348 orcid:0000-0002-2902-2348, Sparagana, Steven, Thiele, Elizabeth Anne, Weiner, Howard L., Wheless, James W., Towbin, Alexander J., Krueger, Darcy A., Annear, Nicholas M.P., Aronow, Mary E., Bartels, Ute, Bebin, E. Martina, Berhouma, Moncef, Bissler, John J., Budde, Klemens, Byars, Anna, Chugani, Harry, Cowen, Edward W., Crino, Peter B., Curatolo, Paolo, Darling, Thomas N., de Vries, Petrus, Dilling, Daniel F., Dunn, David W., Ekong, Rosmary, Ess, Kevin C., Franz, David N., Frost, Michael, Fuchs, Zoë D.B., Gosnell, Elizabeth, Guay-Woodford, Lisa, Gupta, Nishant, Haddad, Luciana, Halbert, Anne, Hebert, Adelaide A., Henske, Elizabeth P., Holmes, Gregory L., Hook, Dena, Hulbert, John, Jansen, Anna, Johnson, Simon R., Jówiak, Sergiusz, King, Bryan, Kingswood, J. Christopher, Knilans, Timothy K., Koenig, Mary Kay, Korf, Bruce, Krueger, Darcy A., Kwiatkowski, David J., McCormack, Francis X., Moss, Joel, Mowat, David, Mowrey, Kate, Nabbout, Rima, Nellist, Mark D., Northrup, Hope, O'Callaghan, Finbar, Patel, Uday, Pounders, Ashley, Roach, E. Steve, Roberds, Steven L., Rodriguez-Buritica, David, Romp, Robb, Roth, Jonathan, Rozenberg, Micaela, Ruoss, Stephen J., Sahin, Mustafa, Sampson, Julian, Samuels, Joshua A., Sauter, Matthias, Smith, Catherine A., Soltani, Keyomaurs, Sparagana, Steven, Srivastava, Shoba, Stuart, Clare, Teng, Joyce M.C., Thiele, Elizabeth A., Towbin, Alexander J., Trout, Andrew, van Eeghen, Agnies, Vanclooster, Stephanie, Wang, Henry Z., Wataya-Kaneda, Mari, Weiner, Howard L., Wheless, James W., Witman, Patricia, Wright, Tim, Wu, Joyce Y. and Young, Lisa 2021. Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations. Pediatric Neurology 123 , pp. 50-66. 10.1016/j.pediatrneurol.2021.07.011 https://doi.org/10.1016/j.pediatrneurol.2021.07.011 file https://orca.cardiff.ac.uk/id/eprint/144095/1/SAMPSON,%20JULIAN%20-%20Updated%20International%20Tuberous%20Sclerosis%20Complex%20Diagnostic%20Criteria%20and%20Surveillance%20and%20Management%20Recommendations.pdf
    • الرقم المعرف:
      10.1016/j.pediatrneurol.2021.07.011
    • الدخول الالكتروني :
      https://doi.org/10.1016/j.pediatrneurol.2021.07.011
      https://orca.cardiff.ac.uk/id/eprint/144095/
      https://orca.cardiff.ac.uk/id/eprint/144095/1/SAMPSON,%20JULIAN%20-%20Updated%20International%20Tuberous%20Sclerosis%20Complex%20Diagnostic%20Criteria%20and%20Surveillance%20and%20Management%20Recommendations.pdf
    • Rights:
      cc_by_nc_nd
    • الرقم المعرف:
      edsbas.6F26B07B