Neuropsychiatric symptoms in genetic frontotemporal dementia: developing a new module for Clinical Rating Scales

Detalhes bibliográficos
Autor(a) principal: Samra, Kiran
Data de Publicação: 2023
Outros Autores: Macdougall, Amy, Peakman, Georgia, Bouzigues, Arabella, Bocchetta, Martina, Cash, David M., Greaves, Caroline V., Convery, Rhian S., van Swieten, John C., Jiskoot, Lize C., Seelaar, Harro, Moreno, Fermin, Sánchez-Valle, Raquel, Laforce, Robert, Graff, Caroline, Masellis, Mario, Tartaglia, Maria Carmela, Rowe, James B., Borroni, Barbara, Finger, Elizabeth, Synofzik, Matthis, Galimberti, Daniela, Vandenberghe, Rik, De Mendonça, Alexandre, Butler, Christopher R., Gerhard, Alexander, Ducharme, Simon, Le Ber, Isabelle, Tiraboschi, Pietro, Santana, Isabel, Pasquier, Florence, Levin, Johannes, Otto, Markus, Sorbi, Sandro, Rohrer, Jonathan D., Russell, Lucy L
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10451/55896
Resumo: © Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY. Published by BMJ. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.
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spelling Neuropsychiatric symptoms in genetic frontotemporal dementia: developing a new module for Clinical Rating ScalesFrontotemporal dementiaGeneticsNeuropsychiatry© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY. Published by BMJ. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.Background: Current clinical rating scales in frontotemporal dementia (FTD) often do not incorporate neuropsychiatric features and may therefore inadequately measure disease stage. Methods: 832 participants from the Genetic FTD Initiative (GENFI) were recruited: 522 mutation carriers and 310 mutation-negative controls. The standardised GENFI clinical questionnaire assessed the frequency and severity of 14 neuropsychiatric symptoms: visual, auditory, and tactile hallucinations, delusions, depression, anxiety, irritability/lability, agitation/aggression, euphoria/elation, aberrant motor behaviour, hypersexuality, hyperreligiosity, impaired sleep, and altered sense of humour. A principal component analysis (PCA) was performed to identify key groupings of neuropsychiatric and behavioural items in order to create a new neuropsychiatric module that could be used as an addition to the Clinical Dementia Rating (CDR) plus National Alzheimer's Coordinating Center Behaviour and Language Domains (NACC FTLD) rating scale. Results: Overall, 46.4% of mutation carriers had neuropsychiatric symptoms (51.6% C9orf72, 40.8% GRN, 46.6% MAPT) compared with 24.5% of controls. Anxiety and depression were the most common in all genetic groups but fluctuated longitudinally and loaded separately in the PCA. Hallucinations and delusions loaded together, with the remaining neuropsychiatric symptoms loading with the core behavioural features of FTD. These results suggest using a single 'psychosis' neuropsychiatric module consisting of hallucinations and delusions. Adding this to the CDR plus NACC FTLD, called the CDR plus NACC FTLD-N, leads to a number of participants being scored more severely, including those who were previously considered asymptomatic now being scored as prodromal. Conclusions: Neuropsychiatric symptoms occur in mutation carriers at all disease stages across all three genetic groups. However, only psychosis features provided additional staging benefit to the CDR plus NACC FTLD. Inclusion of these features brings us closer to optimising the rating scale for use in trials.The Dementia Research Centre is supported by Alzheimer's Research UK, Alzheimer's Society, Brain Research UK, and The Wolfson Foundation. This work was supported by the National Institute for Health Research (NIHR) Queen Square Dementia Biomedical Research Unit and the University College London Hospitals Biomedical Research Centre, the Leonard Wolfson Experimental Neurology Centre (LWENC) Clinical Research Facility, and the UK Dementia Research Institute, which receives its funding from UK DRI Ltd, funded by the UK Medical Research Council, Alzheimer's Society and Alzheimer's Research UK. Several authors of this publication (JCVS, MS, RV, AdM, MO, RV, JDR) are members of the European Reference Network for Rare Neurological Diseases (ERN-RND) - Project ID No 739510. Other funders include: Alzheimer's Research UK (ARUK-CRF2017B-2), Alzheimer's Society (AS-JF-19a-004-517), Alzheimer's Society (AS-PG-16-007), Association for Frontotemporal Dementias Research (2009), Bluefield Project, JPND GENFI-PROX 2019-02248, Government of Canada, Canadian Institutes of Health Research (327387), Deutsche Forschungsgemeinschaft (EXC 2145 SyNergy – ID 390857198), DFG, German Research Foundation (01ED2008B), European Reference Network for Rare Neurological Diseases (ERN-RND) (739510), GENFI (MR/M023664/1), Germany’s Excellence Strategy (390857198, EXC 2145), Government of Canada, Canadian Institutes of Health Research operating grant (MOP- 371851 and PJT-175242), Instituto de Salud Carlos III (PI20/00448), Fundació Marató TV3 (20143810), Italian Ministry of Health (CoEN015 and Ricerca Corrente, PreFrontALS JPND - 733051042), JPND Prefrontals (2015–02926, 2018–02754), Karolinska Institutet, Doctoral Funding, London Hospitals Biomedical Research Centre, the Leonard Wolfson Experimental Neurology Centre, (LWENC), Mady Browaeys Fund for Research into Frontotemporal Dementia, Miriam Marks Brain Research UK Senior Fellowship, MRC (MR/M008525/1), MRC UK GENFI grant (MR/M023664/1), National Brain Appeal (RCN 290173), National Institute for Health Research (NIHR) (BRC-1215-20014), National Institute for Health Research Queen Square Dementia, Biomedical Research Unit, NIHR Rare Disease Translational Research Collaboration (BRC149/NS/MH), The Wolfson Foundation, UK Dementia Research Institute (SM-UCLO-MA-0519), UK Medical Research Council (SUAG/051 G101400), University College London Hospitals Biomedical Research Centre, Wellcome Trust (103838), National Institute for Health Research Cambridge Biomedical Research Centre.BMJ Publishing GroupRepositório da Universidade de LisboaSamra, KiranMacdougall, AmyPeakman, GeorgiaBouzigues, ArabellaBocchetta, MartinaCash, David M.Greaves, Caroline V.Convery, Rhian S.van Swieten, John C.Jiskoot, Lize C.Seelaar, HarroMoreno, FerminSánchez-Valle, RaquelLaforce, RobertGraff, CarolineMasellis, MarioTartaglia, Maria CarmelaRowe, James B.Borroni, BarbaraFinger, ElizabethSynofzik, MatthisGalimberti, DanielaVandenberghe, RikDe Mendonça, AlexandreButler, Christopher R.Gerhard, AlexanderDucharme, SimonLe Ber, IsabelleTiraboschi, PietroSantana, IsabelPasquier, FlorenceLevin, JohannesOtto, MarkusSorbi, SandroRohrer, Jonathan D.Russell, Lucy L2023-01-17T12:08:07Z20232023-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10451/55896engJ Neurol Neurosurg Psychiatry. 2023 Jan 10;jnnp-2022-3301520022-305010.1136/jnnp-2022-3301521468-330Xinfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-11-08T17:03:04Zoai:repositorio.ul.pt:10451/55896Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T22:06:26.435355Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Neuropsychiatric symptoms in genetic frontotemporal dementia: developing a new module for Clinical Rating Scales
title Neuropsychiatric symptoms in genetic frontotemporal dementia: developing a new module for Clinical Rating Scales
spellingShingle Neuropsychiatric symptoms in genetic frontotemporal dementia: developing a new module for Clinical Rating Scales
Samra, Kiran
Frontotemporal dementia
Genetics
Neuropsychiatry
title_short Neuropsychiatric symptoms in genetic frontotemporal dementia: developing a new module for Clinical Rating Scales
title_full Neuropsychiatric symptoms in genetic frontotemporal dementia: developing a new module for Clinical Rating Scales
title_fullStr Neuropsychiatric symptoms in genetic frontotemporal dementia: developing a new module for Clinical Rating Scales
title_full_unstemmed Neuropsychiatric symptoms in genetic frontotemporal dementia: developing a new module for Clinical Rating Scales
title_sort Neuropsychiatric symptoms in genetic frontotemporal dementia: developing a new module for Clinical Rating Scales
author Samra, Kiran
author_facet Samra, Kiran
Macdougall, Amy
Peakman, Georgia
Bouzigues, Arabella
Bocchetta, Martina
Cash, David M.
Greaves, Caroline V.
Convery, Rhian S.
van Swieten, John C.
Jiskoot, Lize C.
Seelaar, Harro
Moreno, Fermin
Sánchez-Valle, Raquel
Laforce, Robert
Graff, Caroline
Masellis, Mario
Tartaglia, Maria Carmela
Rowe, James B.
Borroni, Barbara
Finger, Elizabeth
Synofzik, Matthis
Galimberti, Daniela
Vandenberghe, Rik
De Mendonça, Alexandre
Butler, Christopher R.
Gerhard, Alexander
Ducharme, Simon
Le Ber, Isabelle
Tiraboschi, Pietro
Santana, Isabel
Pasquier, Florence
Levin, Johannes
Otto, Markus
Sorbi, Sandro
Rohrer, Jonathan D.
Russell, Lucy L
author_role author
author2 Macdougall, Amy
Peakman, Georgia
Bouzigues, Arabella
Bocchetta, Martina
Cash, David M.
Greaves, Caroline V.
Convery, Rhian S.
van Swieten, John C.
Jiskoot, Lize C.
Seelaar, Harro
Moreno, Fermin
Sánchez-Valle, Raquel
Laforce, Robert
Graff, Caroline
Masellis, Mario
Tartaglia, Maria Carmela
Rowe, James B.
Borroni, Barbara
Finger, Elizabeth
Synofzik, Matthis
Galimberti, Daniela
Vandenberghe, Rik
De Mendonça, Alexandre
Butler, Christopher R.
Gerhard, Alexander
Ducharme, Simon
Le Ber, Isabelle
Tiraboschi, Pietro
Santana, Isabel
Pasquier, Florence
Levin, Johannes
Otto, Markus
Sorbi, Sandro
Rohrer, Jonathan D.
Russell, Lucy L
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório da Universidade de Lisboa
dc.contributor.author.fl_str_mv Samra, Kiran
Macdougall, Amy
Peakman, Georgia
Bouzigues, Arabella
Bocchetta, Martina
Cash, David M.
Greaves, Caroline V.
Convery, Rhian S.
van Swieten, John C.
Jiskoot, Lize C.
Seelaar, Harro
Moreno, Fermin
Sánchez-Valle, Raquel
Laforce, Robert
Graff, Caroline
Masellis, Mario
Tartaglia, Maria Carmela
Rowe, James B.
Borroni, Barbara
Finger, Elizabeth
Synofzik, Matthis
Galimberti, Daniela
Vandenberghe, Rik
De Mendonça, Alexandre
Butler, Christopher R.
Gerhard, Alexander
Ducharme, Simon
Le Ber, Isabelle
Tiraboschi, Pietro
Santana, Isabel
Pasquier, Florence
Levin, Johannes
Otto, Markus
Sorbi, Sandro
Rohrer, Jonathan D.
Russell, Lucy L
dc.subject.por.fl_str_mv Frontotemporal dementia
Genetics
Neuropsychiatry
topic Frontotemporal dementia
Genetics
Neuropsychiatry
description © Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY. Published by BMJ. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.
publishDate 2023
dc.date.none.fl_str_mv 2023-01-17T12:08:07Z
2023
2023-01-01T00:00:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
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dc.identifier.uri.fl_str_mv http://hdl.handle.net/10451/55896
url http://hdl.handle.net/10451/55896
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv J Neurol Neurosurg Psychiatry. 2023 Jan 10;jnnp-2022-330152
0022-3050
10.1136/jnnp-2022-330152
1468-330X
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eu_rights_str_mv openAccess
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dc.publisher.none.fl_str_mv BMJ Publishing Group
publisher.none.fl_str_mv BMJ Publishing Group
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