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Ducharme, Simon, Dols, Annemiek, Laforce, Robert, Devenney, Emma, Kumfor, Fiona, van den Stock, Jan, Dallaire-Théroux, Caroline, Seelaar, Harro, Gossink, Flora, Vijverberg, Everard, Huey, Edward, Vandenbulcke, Mathieu, Masellis, Mario, Trieu, Calvin, Onyike, Chiadi, Caramelli, Paulo, De Souza, Leonardo Cruz, Santillo, Alexander, Waldö, Maria Landqvist, Landin-Romero, Ramon, Piguet, Olivier, Kelso, Wendy, Eratne, Dhamidhu, Velakoulis, Dennis, Ikeda, Manabu, Perry, David, Pressman, Peter, Boeve, Bradley, Vandenberghe, Rik, Mendez, Mario, Azuar, Carole, Levy, Richard, Le Ber, Isabelle, Baez, Sandra, Lerner, Alan, Ellajosyula, Ratnavalli, Pasquier, Florence, Galimberti, Daniela, Scarpini, Elio, Van Swieten, John, Hornberger, Michael 
ORCID: https://orcid.org/0000-0002-2214-3788, Rosen, Howard, Hodges, John, Diehl-Schmid, Janine and Pijnenburg, Yolande
(2020)
Recommendations to distinguish behavioural variant frontotemporal dementia from psychiatric disorders.
Brain, 143 (6).
pp. 1632-1650.
ISSN 0006-8950
Abstract
The behavioural variant of frontotemporal dementia (bvFTD) is a frequent cause of early-onset dementia. The diagnosis of bvFTD remains challenging because of the limited accuracy of neuroimaging in the early disease stages and the absence of molecular biomarkers, and therefore relies predominantly on clinical assessment. BvFTD shows significant symptomatic overlap with non-degenerative primary psychiatric disorders including major depressive disorder, bipolar disorder, schizophrenia, obsessive-compulsive disorder, autism spectrum disorders and even personality disorders. To date, ∼50% of patients with bvFTD receive a prior psychiatric diagnosis, and average diagnostic delay is up to 5-6 years from symptom onset. It is also not uncommon for patients with primary psychiatric disorders to be wrongly diagnosed with bvFTD. The Neuropsychiatric International Consortium for Frontotemporal Dementia was recently established to determine the current best clinical practice and set up an international collaboration to share a common dataset for future research. The goal of the present paper was to review the existing literature on the diagnosis of bvFTD and its differential diagnosis with primary psychiatric disorders to provide consensus recommendations on the clinical assessment. A systematic literature search with a narrative review was performed to determine all bvFTD-related diagnostic evidence for the following topics: bvFTD history taking, psychiatric assessment, clinical scales, physical and neurological examination, bedside cognitive tests, neuropsychological assessment, social cognition, structural neuroimaging, functional neuroimaging, CSF and genetic testing. For each topic, responsible team members proposed a set of minimal requirements, optimal clinical recommendations, and tools requiring further research or those that should be developed. Recommendations were listed if they reached a ≥ 85% expert consensus based on an online survey among all consortium participants. New recommendations include performing at least one formal social cognition test in the standard neuropsychological battery for bvFTD. We emphasize the importance of 3D-T1 brain MRI with a standardized review protocol including validated visual atrophy rating scales, and to consider volumetric analyses if available. We clarify the role of 18F-fluorodeoxyglucose PET for the exclusion of bvFTD when normal, whereas non-specific regional metabolism abnormalities should not be over-interpreted in the case of a psychiatric differential diagnosis. We highlight the potential role of serum or CSF neurofilament light chain to differentiate bvFTD from primary psychiatric disorders. Finally, based on the increasing literature and clinical experience, the consortium determined that screening for C9orf72 mutation should be performed in all possible/probable bvFTD cases or suspected cases with strong psychiatric features.
| Item Type: | Article |
|---|---|
| Additional Information: | Funding Information: This project was not supported by a grant. S.D. receives salary support from the Fond de Recherche du Québec– Santé. |
| Uncontrolled Keywords: | biomarkers,differential diagnosis,frontotemporal dementia,guidelines,psychiatry,clinical neurology ,/dk/atira/pure/subjectarea/asjc/2700/2728 |
| Faculty \ School: | Faculty of Medicine and Health Sciences > Norwich Medical School |
| UEA Research Groups: | Faculty of Medicine and Health Sciences > Research Centres > Norwich Institute for Healthy Aging Faculty of Medicine and Health Sciences > Research Groups > Mental Health Faculty of Medicine and Health Sciences > Research Centres > Lifespan Health |
| Related URLs: | |
| Depositing User: | LivePure Connector |
| Date Deposited: | 20 Jul 2022 09:30 |
| Last Modified: | 19 Oct 2023 03:22 |
| URI: | https://ueaeprints.uea.ac.uk/id/eprint/86708 |
| DOI: | 10.1093/brain/awaa018 |
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