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Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project

2020; BioMed Central; Volume: 12; Issue: 1 Linguagem: Inglês

10.1186/s11689-020-09327-0

1866-1955

Petrus J. de Vries, Elena Belousova, Mirjana P. Benedik, Tom Carter, Vincent Cottin, Paolo Curatolo, Lisa D’Amato, Guillaume Beure d’Augères, José C. Ferreira, Martha Feucht, Carla Fladrowski, Christoph Hertzberg, Sergiusz Jóźwiak, John A. Lawson, Alfons Macaya, Rubén Marques, Rima Nabbout, Finbar O’Callaghan, Jiong Qin, Valentin Sander, Matthias Sauter, Seema Shah, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard A. Zonnenberg, J.C. Kingswood, Anna Jansen, Nobuo Shinohara, Shigeo Horie, Masaya Kubota, Jun Tohyama, Katsumi Imai, Mari Kaneda, Hideo Kaneko, Yasushi Uchida, Tomoko Kirino, Shoichi Endo, Yoshikazu Inoue, Katsuhisa Uruno, Ayşe Serdaroğlu, Zühal Yapıcı, Banu Anlar, Şakìr Altunbaşak, O. Lvova, O. V. Belyaev, Oleg Agranovich, Е. В. Левитина, Yu. V. Maksimova, Antonina Karas, Yuwu Jiang, Liping Zou, Kai‐Feng Xu, Yushi Zhang, Guoming Luan, Yuqin Zhang, Yi Wang, Meiling Jin, Dingwei Ye, Weiping Liao, Liemin Zhou, Jie Liu, Jianxiang Liao, Bo Yan, Yanchun Deng, Li Jiang, Zhisheng Liu, Shaoping Huang, Hua Li, Kijoong Kim, Pei‐Lung Chen, Hsiu-Fen Lee, Jeng‐Dau Tsai, Ching‐Shiang Chi, Chao Huang, Kate Riney, Deborah Yates, Patrick Kwan, Surachai Likasitwattanakul, Charcrin Nabangchang, Krisnachai Chomtho, Kamornwan Katanyuwong, Somjit Sri-udomkajorn, Jo M. Wilmshurst, Reeval Segel, Tal Gilboa, Michal Tzadok, Aviva Fattal‐Valevski, Panagiotis Papathanasopoulos, Antigone Papavasiliou, Stylianos Giannakodimos, Stylianos Gatzonis, Evangelos Pavlou, Meropi Tzoufi, A. M. H. Vergeer, Marc D’Hooghe, Hélène Verhelst, Filip Roelens, Marie‐Cécile Nassogne, Pierre Defresne, Liesbeth De Waele, Patricia Leroy, Nathalie Demonceau, Benjamin Legros, Patrick Van Bogaert, Berten Ceulemans, Lina Dom, Pierre Castelnau, Anne de Saint Martin, Audrey Riquet, Mathieu Milh, Claude Cancès, Jean‐Michel Pedespan, Dorothée Ville, Agathe Roubertie, Stéphane Auvin, Patrick Berquin, Christian Richelme, Catherine Allaire, Sophie Guéden, Sylvie Nguyen The Tich, Bertrand Godet, Maria Luz Ruiz Falco Rojas, Jaume Planas, Antonio Martínez Bermejo, Patricia Smeyers Durá, Susana Roldan Aparicio, M. J. Martínez González, Javier López Pisón, Manuel Oscar Blanco Barca, Eduardo Laso, Olga Alonso Luengo, Francisco Javier Aguirre Rodriguez, Ignacio Málaga, Ana Camacho, Itxaso Martí, Eduardo Martínez Salcedo, Maria Eugenia Yoldi Petri, Ramón Cancho Candela, Ines da Conceicao Carrilho, José Pedro Vieira, José Paulo da Silva Oliveira Monteiro, Miguel Jorge Santos de Oliveira Ferreira Leao, Catarina Sofia Marceano Ribeiro Luis, Carla Pires Mendonca, Milda Endzinienė, Jurgis Strautmanis, Inga Talvik, Maria Paola Canevini, Antonio Gambardella, Dario Pruna, Salvatore Buono, Elena Fontana, Bernardo Dalla Bernardina, Carmen Burloiu, Iuliu Stefan Bacos Cosma, Mihaela Adela Vințan, Laura Popescu, Karel Zitterbart, Jaroslava Payerova, Ladislav Bratsky, Zuzana Žilinská, U Gruber‐Sedlmayr, Matthias Baumann, Edda Haberlandt, Kevin Rostásy, Ekaterina Pataraia, Frances Elmslie, Clare Johnston, Pamela Crawford, Peter Uldall, Maria Dahlin, Paul Uvebrant, Olof Rask, Marit Bjoernvold, Eylert Brodtkorb, Andreas Sloerdahl, Ragnar Solhoff, Martine Sofie Gilje Jaatun, Marek Mandera, Elzbieta Janina Radzikowska, Mariusz Wysocki, Michael Fischereder, Gerhard Kurlemann, Bernd Wilken, Adelheid Wiemer‐Kruel, Klemens Budde, Klaus Marquard, Markus Knuf, Andreas Hahn, Hans Hartmann, Andreas Merkenschlager, Regina Trollmann,

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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. Results A total of 85 individuals with TSC (female:male, 40:45) from 7 countries were enrolled. Cluster analysis grouped the TAND variables into 6 clusters: a scholastic cluster (reading, writing, spelling, mathematics, visuo-spatial difficulties, disorientation), a hyperactive/impulsive cluster (hyperactivity, impulsivity, self-injurious behavior), a mood/anxiety cluster (anxiety, depressed mood, sleep difficulties, shyness), a neuropsychological cluster (attention/concentration difficulties, memory, attention, dual/multi-tasking, executive skills deficits), a dysregulated behavior cluster (mood swings, aggressive outbursts, temper tantrums), and an autism spectrum disorder (ASD)-like cluster (delayed language, poor eye contact, repetitive behaviors, unusual use of language, inflexibility, difficulties associated with eating). The natural clusters mapped reasonably well onto the six-factor solution generated. Comparison between cluster and factor solutions from this study and the earlier feasibility study showed significant similarity, particularly in cluster solutions. Conclusions Results from this TOSCA research project in an independent international data set showed that the combination of cluster analysis and factor analysis may be able to identify clinically meaningful natural TAND clusters. Findings were remarkably similar to those identified in the earlier feasibility study, supporting the potential robustness of these natural TAND clusters. Further steps should include examination of larger samples, investigation of internal consistency, and evaluation of the robustness of the proposed natural clusters.