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Recommendations to distinguish behavioural variant frontotemporal dementia from psychiatric disorders

Ducharme, Simon ; Dols, Annemiek ; Laforce, Robert ; Devenney, Emma ; Kumfor, Fiona ; Van Den Stock, Jan ; Dallaire-Théroux, Caroline ; Seelaar, Harro ; Gossink, Flora and Vijverberg, Everard , et al. (2020) In Brain 143(6). p.1632-1650
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... (More)

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.

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organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
biomarkers, differential diagnosis, frontotemporal dementia, guidelines, psychiatry
in
Brain
volume
143
issue
6
pages
1632 - 1650
publisher
Oxford University Press
external identifiers
  • scopus:85086682996
  • pmid:32129844
ISSN
0006-8950
DOI
10.1093/brain/awaa018
language
English
LU publication?
yes
additional info
Funding Information: This project was not supported by a grant. S.D. receives salary support from the Fond de Recherche du Québec– Santé. Publisher Copyright: © 2020 The Author(s) (2020). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved.
id
0730d836-69c0-4781-a4fc-c1f9df18f977
date added to LUP
2021-11-17 18:06:19
date last changed
2024-04-20 16:36:35
@article{0730d836-69c0-4781-a4fc-c1f9df18f977,
  abstract     = {{<p>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.</p>}},
  author       = {{Ducharme, Simon and Dols, Annemiek and Laforce, Robert and Devenney, Emma and Kumfor, Fiona and Van Den Stock, Jan and Dallaire-Théroux, Caroline and Seelaar, Harro and Gossink, Flora and Vijverberg, Everard and Huey, Edward and Vandenbulcke, Mathieu and Masellis, Mario and Trieu, Calvin and Onyike, Chiadi and Caramelli, Paulo and De Souza, Leonardo Cruz and Santillo, Alexander and Waldö, Maria Landqvist and Landin-Romero, Ramon and Piguet, Olivier and Kelso, Wendy and Eratne, Dhamidhu and Velakoulis, Dennis and Ikeda, Manabu and Perry, David and Pressman, Peter and Boeve, Bradley and Vandenberghe, Rik and Mendez, Mario and Azuar, Carole and Levy, Richard and Le Ber, Isabelle and Baez, Sandra and Lerner, Alan and Ellajosyula, Ratnavalli and Pasquier, Florence and Galimberti, Daniela and Scarpini, Elio and Van Swieten, John and Hornberger, Michael and Rosen, Howard and Hodges, John and Diehl-Schmid, Janine and Pijnenburg, Yolande}},
  issn         = {{0006-8950}},
  keywords     = {{biomarkers; differential diagnosis; frontotemporal dementia; guidelines; psychiatry}},
  language     = {{eng}},
  number       = {{6}},
  pages        = {{1632--1650}},
  publisher    = {{Oxford University Press}},
  series       = {{Brain}},
  title        = {{Recommendations to distinguish behavioural variant frontotemporal dementia from psychiatric disorders}},
  url          = {{http://dx.doi.org/10.1093/brain/awaa018}},
  doi          = {{10.1093/brain/awaa018}},
  volume       = {{143}},
  year         = {{2020}},
}