Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the
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(2020) 12:24
RESEARCH
Open Access
Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project Petrus J. de Vries1* , Elena Belousova2, Mirjana P. Benedik3, Tom Carter4, Vincent Cottin5, Paolo Curatolo6, Lisa D’Amato7, Guillaume Beure d’Augères8, José C. Ferreira9, Martha Feucht10, Carla Fladrowski11,12, Christoph Hertzberg13, Sergiusz Jozwiak14,15, John A. Lawson16, Alfons Macaya17, Ruben Marques7,18, Rima Nabbout19, Finbar O’Callaghan20, Jiong Qin21, Valentin Sander22, Matthias Sauter23, Seema Shah24, Yukitoshi Takahashi25, Renaud Touraine26, Sotiris Youroukos27, Bernard Zonnenberg28, J. Chris Kingswood29, Anna C. Jansen30 and on behalf of TOSCA Consortium and TOSCA Investigators
Abstract Background: Tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND) have unique, individual patterns that pose significant challenges for diagnosis, psycho-education, and intervention planning. A recent study suggested that it may be feasible to use TAND Checklist data and data-driven methods to generate natural TAND clusters. However, the study had a small sample size and data from only two countries. Here, we investigated the replicability of identifying natural TAND clusters from a larger and more diverse sample from the TOSCA study. Methods: As part of the TOSCA international TSC registry study, this embedded research project collected TAND Checklist data from individuals with TSC. Correlation coefficients were calculated for TAND variables to generate a correlation matrix. Hierarchical cluster and factor analysis methods were used for data reduction and identification of natural TAND clusters. (Continued on next page)
* Correspondence: [email protected] Lisa D’Amato was a Novartis employee at the time of manuscript concept approval. 1 Division of Child and Adolescent Psychiatry, University of Cape Town, 46 Sawkins Road, Rondebosch, Cape Town 7700, South Africa Full list of author information is available at the end of the article © The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the
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