학술논문
Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype
Document Type
article
Author
Petrus J. de Vries; Elena Belousova; Mirjana P. Benedik; Tom Carter; Vincent Cottin; Paolo Curatolo; Maria Dahlin; Lisa D'Amato; Guillaume Beaure d'Augères; José C. Ferreira; Martha Feucht; Carla Fladrowski; Christoph Hertzberg; Sergiusz Jozwiak; John A. Lawson; Alfons Macaya; Ruben Marques; Rima Nabbout; Finbar O'Callaghan; Jiong Qin; Valentin Sander; Matthias Sauter; Seema Shah; Yukitoshi Takahashi; Renaud Touraine; Sotiris Youroukos; Bernard Zonnenberg; John C. Kingswood; Anna C. 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; Ayse Serdaroglu; Zuhal Yapici; Banu Anlar; Sakir Altunbasak; Olga Lvova; Oleg Valeryevich Belyaev; Oleg Agranovich; Elena Vladislavovna Levitina; Yulia Vladimirovna Maksimova; Antonina Karas; Yuwu Jiang; Liping Zou; Kaifeng 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-Ching Huang; Kate Riney; Deborah Yates; Patrick Kwan; Surachai Likasitwattanakul; Charcrin Nabangchang; Lunliya Thampratankul Krisnachai Chomtho; Kamornwan Katanyuwong; Somjit Sriudomkajorn; Jo Wilmshurst; Reeval Segel; Tal Gilboa; Michal Tzadok; Aviva Fattal-Valevski; Panagiotis Papathanasopoulos; Antigone Syrigou Papavasiliou; Stylianos Giannakodimos; Stylianos Gatzonis; Evangelos Pavlou; Meropi Tzoufi; A. M. H. Vergeer; Marc Dhooghe; Hélène Verhelst; Filip Roelens; Marie Cecile 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 Cances; Jean-Michel Pedespan; Dorothee Ville; Agathe Roubertie; Stéphane Auvin; Patrick Berquin; Christian Richelme; Catherine Allaire; Sophie Gueden; Sylvie Nguyen The Tich; Bertrand Godet; Maria Luz Ruiz Falco Rojas; Jaume Campistol Planas; Antonio Martinez Bermejo; Patricia Smeyers Dura; Susana Roldan Aparicio; Maria Jesus Martinez Gonzalez; Javier Lopez Pison; Manuel Oscar Blanco Barca; Eduardo Lopez Laso; Olga Alonso Luengo; Francisco Javier Aguirre Rodriguez; Ignacio Malaga Dieguez; Ana Camacho Salas; Itxaso Marti Carrera; Eduardo Martinez Salcedo; Maria Eugenia Yoldi Petri; Ramon Cancho Candela; Ines da Conceicao Carrilho; Jose Pedro Vieira; José Paulo da Silva Oliveira Monteiro; Miguel Jorge Santos de Oliveira Ferreira Leao; Catarina Sofia Marceano Ribeiro Luis; Carla Pires Mendonca; Milda Endziniene; 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 Vintan; Laura Popescu; Karel Zitterbart; Jaroslava Payerova; Ladislav Bratsky; Zuzana Zilinska; Ursula Gruber-Sedlmayr; Matthias Baumann; Edda Haberlandt; Kevin Rostasy; Ekaterina Pataraia; Frances Elmslie; Clare Ann Johnston; Pamela Crawford; Peter Uldall; 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
Source
Frontiers in Neurology, Vol 11 (2020)
Subject
Language
English
ISSN
1664-2295
Abstract
Background: Knowledge is increasing about TSC-Associated Neuropsychiatric Disorders (TAND), but little is known about the potentially confounding effects of intellectual ability (IA) on the rates of TAND across age, sex, and genotype. We evaluated TAND in (a) children vs. adults, (b) males vs. females, and (c) TSC1 vs. TSC2 mutations, after stratification for levels of IA, in a large, international cohort.Methods: Individuals of any age with a documented visit for TSC in the 12 months prior to enrolment were included. Frequency and percentages of baseline TAND manifestations were presented by categories of IA (no intellectual disability [ID, intelligence quotient (IQ)>70]; mild ID [IQ 50–70]; moderate-to-profound ID [IQ