The Revised Self-Monitoring Scale detects early impairment of social cognition in genetic frontotemporal dementia within the GENFI cohort

• Autor(es): Franklin, Hannah D. ; Russell, Lucy L. ; Peakman, Georgia ; Greaves, Caroline V. ; Bocchetta, Martina ; Nicholas, Jennifer ; Poos, Jackie ; Convery, Rhian S. ; Cash, David M. ; van Swieten, John ; Jiskoot, Lize ; Miltenberger-Miltenyi, Gabriel ; van Minkelen, Rick ; Mitchell, Sara ; Moore, Katrina ; Nacmias, Benedetta ; Nelson, Annabel ; Öijerstedt, Linn ; Olives, Jaume ; Ourselin, Sebastien ; Padovani, Alessandro ; Moreno, Fermin ; Panman, Jessica ; Papma, Janne M. ; Pijnenburg, Yolande ; Polito, Cristina ; Premi, Enrico ; Prioni, Sara ; Prix, Catharina ; Rademakers, Rosa ; Redaelli, Veronica ; Rinaldi, Daisy ; Sanchez-Valle, Raquel ; Rittman, Tim ; Rogaeva, Ekaterina ; Rollin, Adeline ; Rosa-Neto, Pedro ; Rossi, Giacomina ; Rossor, Martin ; Santiago, Beatriz ; Saracino, Dario ; Sayah, Sabrina ; Scarpini, Elio ; Borroni, Barbara ; Schönecker, Sonja ; Seelaar, Harro ; Semler, Elisa ; Shafei, Rachelle ; Shoesmith, Christen ; Swift, Imogen ; Tábuas-Pereira, Miguel ; Tainta, Mikel ; Taipa, Ricardo ; Tang-Wai, David ; Laforce, Robert ; Thomas, David L. ; Thompson, Paul ; Thonberg, Hakan ; Timberlake, Carolyn ; Tiraboschi, Pietro ; Todd, Emily ; Van Damme, Philip ; Vandenbulcke, Mathieu ; Veldsman, Michele ; Verdelho, Ana ; Masellis, Mario ; Villanua, Jorge ; Warren, Jason ; Wilke, Carlo ; Woollacott, Ione ; Wlasich, Elisabeth ; Zetterberg, Henrik ; Zulaica, Miren ; Tartaglia, Maria Carmela ; Graff, Caroline ; Galimberti, Daniela ; Rowe, James B. ; Finger, Elizabeth ; Synofzik, Matthis ; Vandenberghe, Rik ; De Mendonça, Alexandre ; Tagliavini, Fabrizio ; Santana, Isabel ; Ducharme, Simon ; Butler, Chris ; Gerhard, Alex ; Levin, Johannes ; Danek, Adrian ; Otto, Markus ; Sorbi, Sandro ; Le Ber, Isabelle ; Pasquier, Florence ; Rohrer, Jonathan D. ; Afonso, Sónia ; Almeida, Maria Rosario ; Anderl-Straub, Sarah ; Andersson, Christin ; Antonell, Anna ; Archetti, Silvana ; Arighi, Andrea ; Balasa, Mircea ; Barandiaran, Myriam ; Bargalló, Nuria ; Bartha, Robart ; Bender, Benjamin ; Benussi, Alberto ; Bertoux, Maxime ; Bertrand, Anne ; Bessi, Valentina ; Black, Sandra ; Borrego-Ecija, Sergi ; Bras, Jose ; Brice, Alexis ; Bruffaerts, Rose ; Camuzat, Agnès ; Cañada, Marta ; Cantoni, Valentina ; Caroppo, Paola ; Castelo-Branco, Miguel ; Colliot, Olivier ; Cope, Thomas ; Deramecourt, Vincent ; de Arriba, María ; Di Fede, Giuseppe ; Díez, Alina ; Duro, Diana ; Fenoglio, Chiara ; Ferrari, Camilla ; Ferreira, Catarina B. ; Fox, Nick ; Freedman, Morris ; Fumagalli, Giorgio ; Funkiewiez, Aurélie ; Gabilondo, Alazne ; Gasparotti, Roberto ; Gauthier, Serge ; Gazzina, Stefano ; Giaccone, Giorgio ; Gorostidi, Ana ; Greaves, Caroline ; Guerreiro, Rita ; Heller, Carolin ; Hoegen, Tobias ; Indakoetxea, Begoña ; Jelic, Vesna ; Karnath, Hans-Otto ; Keren, Ron ; Kuchcinski, Gregory ; Langheinrich, Tobias ; Lebouvier, Thibaud ; Leitão, Maria João ; Lladó, Albert ; Lombardi, Gemma ; Loosli, Sandra ; Maruta, Carolina ; Mead, Simon ; Meeter, Lieke
• Data: 2021
• Identificador Persistente: http://hdl.handle.net/10451/49174
• Origem: Repositório da Universidade de Lisboa
• Assunto(s): C9orf72; CDR® plus NACC FTLD; Familial; Frontotemporal dementia; GRN; MAPT; RSMS; VBM
• Tipo de Documento: Artigo científico
• Idioma: Inglês
• Contribuidor(es): Repositório Científico de Acesso Aberto da ULisboa

Descrição

Background: Although social cognitive dysfunction is a major feature of frontotemporal dementia (FTD), it has been poorly studied in familial forms. A key goal of studies is to detect early cognitive impairment using validated measures in large patient cohorts. Methods: We used the Revised Self-Monitoring Scale (RSMS) as a measure of socioemotional sensitivity in 730 participants from the genetic FTD initiative (GENFI) observational study: 269 mutation-negative healthy controls, 193 C9orf72 expansion carriers, 193 GRN mutation carriers and 75 MAPT mutation carriers. All participants underwent the standardised GENFI clinical assessment including the 'CDR® plus NACC FTLD' scale and RSMS. The RSMS total score and its two subscores, socioemotional expressiveness (EX score) and modification of self-presentation (SP score) were measured. Volumetric T1-weighted magnetic resonance imaging was available from 377 mutation carriers for voxel-based morphometry (VBM) analysis. Results: The RSMS was decreased in symptomatic mutation carriers in all genetic groups but at a prodromal stage only in the C9orf72 (for the total score and both subscores) and GRN (for the modification of self-presentation subscore) groups. RSMS score correlated with disease severity in all groups. The VBM analysis implicated an overlapping network of regions including the orbitofrontal cortex, insula, temporal pole, medial temporal lobe and striatum. Conclusions: The RSMS indexes socioemotional impairment at an early stage of genetic FTD and may be a suitable outcome measure in forthcoming trials.