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

2023Artigo científico Acesso aberto
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dc.contributor.authorSamra, Kiran
dc.contributor.authorMacdougall, Amy
dc.contributor.authorPeakman, Georgia
dc.contributor.authorBouzigues, Arabella
dc.contributor.authorBocchetta, Martina
dc.contributor.authorCash, David M.
dc.contributor.authorGreaves, Caroline V.
dc.contributor.authorConvery, Rhian S.
dc.contributor.authorvan Swieten, John C.
dc.contributor.authorJiskoot, Lize C.
dc.contributor.authorSeelaar, Harro
dc.contributor.authorMoreno, Fermin
dc.contributor.authorSánchez-Valle, Raquel
dc.contributor.authorLaforce, Robert
dc.contributor.authorGraff, Caroline
dc.contributor.authorMasellis, Mario
dc.contributor.authorTartaglia, Maria Carmela
dc.contributor.authorRowe, James B.
dc.contributor.authorBorroni, Barbara
dc.contributor.authorFinger, Elizabeth
dc.contributor.authorSynofzik, Matthis
dc.contributor.authorGalimberti, Daniela
dc.contributor.authorVandenberghe, Rik
dc.contributor.authorDe Mendonça, Alexandre
dc.contributor.authorButler, Christopher R.
dc.contributor.authorGerhard, Alexander
dc.contributor.authorDucharme, Simon
dc.contributor.authorLe Ber, Isabelle
dc.contributor.authorTiraboschi, Pietro
dc.contributor.authorSantana, Isabel
dc.contributor.authorPasquier, Florence
dc.contributor.authorLevin, Johannes
dc.contributor.authorOtto, Markus
dc.contributor.authorSorbi, Sandro
dc.contributor.authorRohrer, Jonathan D.
dc.contributor.authorRussell, Lucy L
dc.date.accessioned2023-01-17T12:08:07Z
dc.date.available2023-01-17T12:08:07Z
dc.date.issued2023
dc.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/.pt_PT
dc.description.abstractBackground: 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.pt_PT
dc.description.sponsorshipThe 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.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationJ Neurol Neurosurg Psychiatry. 2023 Jan 10;jnnp-2022-330152pt_PT
dc.identifier.doi10.1136/jnnp-2022-330152pt_PT
dc.identifier.eissn1468-330X
dc.identifier.issn0022-3050
dc.identifier.urihttp://hdl.handle.net/10451/55896
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherBMJ Publishing Grouppt_PT
dc.relation.publisherversionhttps://jnnp.bmj.com/pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectFrontotemporal dementiapt_PT
dc.subjectGeneticspt_PT
dc.subjectNeuropsychiatrypt_PT
dc.titleNeuropsychiatric symptoms in genetic frontotemporal dementia: developing a new module for Clinical Rating Scalespt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.titleJournal of Neurology, Neurosurgery & Psychiatrypt_PT
person.familyNamede Mendonça
person.givenNameAlexandre
person.identifier.ciencia-id1615-41B4-0848
person.identifier.orcid0000-0002-0488-1453
person.identifier.scopus-author-id7003320823
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication53ca3547-99ce-4b68-9330-7879a54c47b7
relation.isAuthorOfPublication.latestForDiscovery53ca3547-99ce-4b68-9330-7879a54c47b7

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