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

Kiran Samra; Amy Macdougall; Georgia Peakman; Arabella Bouzigues; Martina Bocchetta; David M Cash; Caroline V Greaves; Rhian S Convery; John C van Swieten; Lize C Jiskoot; Harro Seelaar; Fermin Moreno; Raquel Sánchez-Valle; Robert Laforce; Caroline Graff; Mario Masellis; Maria Carmela Tartaglia; James B Rowe; Barbara Borroni; Elizabeth Finger; Matthis Synofzik; Daniela Galimberti; Rik Vandenberghe; Alexandre de Mendonca; Christopher R Butler; Alexander Gerhard; Simon Ducharme; Isabelle Le Ber; Pietro Tiraboschi; Isabel Santana; Florence Pasquier; Johannes Levin; Markus Otto; Sandro Sorbi; Jonathan D Rohrer; Lucy L Russell; Annabel Nelson; David L Thomas; Emily Todd; Hanya Benotmane; Jennifer Nicholas; Rachelle Shafei; Carolyn Timberlake; Thomas Cope; Timothy Rittman; Alberto Benussi; Enrico Premi; Roberto Gasparotti; Silvana Archetti; Stefano Gazzina; Valentina Cantoni; Andrea Arighi; Chiara Fenoglio; Elio Scarpini; Giorgio Fumagalli; Vittoria Borracci; Giacomina Rossi; Giorgio Giaccone; Giuseppe Di Fede; Paola Caroppo; Sara Prioni; Veronica Redaelli; David Tang-Wai; Ekaterina Rogaeva; Miguel Castelo-Branco; Morris Freedman; Ron Keren; Sandra Black; Sara Mitchell; Christen Shoesmith; Robart Bartha; Rosa Rademakers; Jackie Poos; Janne M Papma; Lucia Giannini; Rick Van Minkelen; Yolande Pijnenburg; Benedetta Nacmias; Camilla Ferrari; Cristina Polito; Gemma Lombardi; Valentina Bessi; Michele Veldsman; Christin Andersson; Hakan Thonberg; Linn Öijerstedt; Vesna Jelic; Paul Thompson; Tobias Langheinrich; Albert Lladó; Anna Antonell; Jaume Olives; Mircea Balasa; Nuria Bargalló; Sergi Borrego-Ecija; Ana Verdelho; Carolina Maruta; Catarina B Ferreira; Gabriel Miltenberger; Frederico Simões Do Couto; Alazne Gabilondo; Ana Gorostidi; Jorge Villanua; Marta Cañada; Mikel Tainta; Miren Zulaica; Myriam Barandiaran; Patricia Alves; Benjamin Bender; Carlo Wilke; Lisa Graf; Annick Vogels; Mathieu Vandenbulcke; Philip Van Damme; Rose Bruffaerts; Koen Poesen; Pedro Rosa-Neto; Serge Gauthier; Agnès Camuzat; Alexis Brice; Anne Bertrand; Aurélie Funkiewiez; Daisy Rinaldi; Dario Saracino; Olivier Colliot; Sabrina Sayah; Catharina Prix; Elisabeth Wlasich; Olivia Wagemann; Sandra Loosli; Sonja Schönecker; Tobias Hoegen; Jolina Lombardi; Sarah Anderl-Straub; Adeline Rollin; Gregory Kuchcinski; Maxime Bertoux; Thibaud Lebouvier; Vincent Deramecourt; Beatriz Santiago; Diana Duro; Maria João Leitão; Maria Rosario Almeida; Miguel Tábuas-Pereira; Sónia Afonso

doi:10.1136/jnnp-2022-330152

Journal Articles Journal of Neurology, Neurosurgery and Psychiatry Year : 2023

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

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Kiran Samra

Function : Author
PersonId : 1339604
ORCID : 0000-0002-3105-7099

Amy Macdougall

Function : Author

Georgia Peakman

Function : Author
PersonId : 1343223
ORCID : 0000-0002-3319-138X

Arabella Bouzigues

Function : Author

Martina Bocchetta

Function : Author
PersonId : 1363148
ORCID : 0000-0003-1814-5024

David M Cash

Function : Author

Caroline V Greaves

Function : Author

Rhian S Convery

Function : Author
PersonId : 1343224
ORCID : 0000-0002-9477-1812

John C van Swieten

Function : Author
PersonId : 1363150
ORCID : 0000-0001-6278-6844

Lize C Jiskoot

Function : Author
PersonId : 1365754
ORCID : 0000-0002-1120-1858

Harro Seelaar

Function : Author
PersonId : 1343222
ORCID : 0000-0003-1989-7527

Fermin Moreno

Function : Author

Raquel Sánchez-Valle

Function : Author

Robert Laforce

Function : Author

Caroline Graff

Function : Author

Mario Masellis

Function : Author

Maria Carmela Tartaglia

Function : Author

James B Rowe

Function : Author
PersonId : 1343226
ORCID : 0000-0001-7216-8679

Barbara Borroni

Function : Author
PersonId : 1336812
ORCID : 0000-0001-9340-9814

Elizabeth Finger

Function : Author
PersonId : 1336815
ORCID : 0000-0003-4461-7427

Matthis Synofzik

Function : Author
PersonId : 1183781
ORCID : 0000-0002-2280-7273

Daniela Galimberti

Function : Author
PersonId : 1305542
ORCID : 0000-0002-9284-5953

Rik Vandenberghe

Function : Author

Alexandre de Mendonca

Function : Author

Christopher R Butler

Function : Author

Alexander Gerhard

Function : Author
PersonId : 1365755
ORCID : 0000-0002-8071-6062

Simon Ducharme

Function : Author
PersonId : 1336818
ORCID : 0000-0002-7309-1113

Isabelle Le Ber

Function : Author
PersonId : 1370730
ORCID : 0000-0002-2508-5181

Institut du Cerveau = Paris Brain Institute

Pietro Tiraboschi

Function : Author
PersonId : 1336813
ORCID : 0000-0002-2171-1720

Isabel Santana

Function : Author

Florence Pasquier

Function : Author

Lille Neurosciences & Cognition - U 1172

Johannes Levin

Function : Author

Markus Otto

Function : Author

Sandro Sorbi

Function : Author
PersonId : 1370731
ORCID : 0000-0002-0380-6670

Jonathan D Rohrer

Function : Author
PersonId : 1110171
ORCID : 0000-0002-6155-8417

Lucy L Russell

Function : Author
PersonId : 1364153

Annabel Nelson

Function : Author

David L Thomas

Function : Author

Emily Todd

Function : Author

Hanya Benotmane

Function : Author

Jennifer Nicholas

Function : Author

Rachelle Shafei

Function : Author

Carolyn Timberlake

Function : Author

Thomas Cope

Function : Author

Timothy Rittman

Function : Author

Alberto Benussi

Function : Author

Enrico Premi

Function : Author

Roberto Gasparotti

Function : Author

Silvana Archetti

Function : Author

Stefano Gazzina

Function : Author

Valentina Cantoni

Function : Author

Andrea Arighi

Function : Author

Chiara Fenoglio

Function : Author

Elio Scarpini

Function : Author

Giorgio Fumagalli

Function : Author

Vittoria Borracci

Function : Author

Giacomina Rossi

Function : Author

Giorgio Giaccone

Function : Author

Giuseppe Di Fede

Function : Author

Paola Caroppo

Function : Author

Sara Prioni

Function : Author

Veronica Redaelli

Function : Author

David Tang-Wai

Function : Author

Ekaterina Rogaeva

Function : Author

Miguel Castelo-Branco

Function : Author

Morris Freedman

Function : Author

Ron Keren

Function : Author

Sandra Black

Function : Author

Sara Mitchell

Function : Author

Christen Shoesmith

Function : Author

Robart Bartha

Function : Author

Rosa Rademakers

Function : Author

Jackie Poos

Function : Author

Janne M Papma

Function : Author

Lucia Giannini

Function : Author

Rick Van Minkelen

Function : Author

Yolande Pijnenburg

Function : Author

Benedetta Nacmias

Function : Author

Camilla Ferrari

Function : Author

Cristina Polito

Function : Author

Gemma Lombardi

Function : Author

Valentina Bessi

Function : Author

Michele Veldsman

Function : Author

Christin Andersson

Function : Author

Hakan Thonberg

Function : Author

Linn Öijerstedt

Function : Author

Vesna Jelic

Function : Author

Paul Thompson

Function : Author

Tobias Langheinrich

Function : Author

Albert Lladó

Function : Author

Anna Antonell

Function : Author

Jaume Olives

Function : Author

Mircea Balasa

Function : Author

Nuria Bargalló

Function : Author

Sergi Borrego-Ecija

Function : Author

Ana Verdelho

Function : Author

Carolina Maruta

Function : Author

Catarina B Ferreira

Function : Author

Gabriel Miltenberger

Function : Author

Frederico Simões Do Couto

Function : Author

Alazne Gabilondo

Function : Author

Ana Gorostidi

Function : Author

Jorge Villanua

Function : Author

Marta Cañada

Function : Author

Mikel Tainta

Function : Author

Miren Zulaica

Function : Author

Myriam Barandiaran

Function : Author

Patricia Alves

Function : Author

Benjamin Bender

Function : Author

Carlo Wilke

Function : Author

Lisa Graf

Function : Author

Annick Vogels

Function : Author

Mathieu Vandenbulcke

Function : Author

Philip Van Damme

Function : Author

Rose Bruffaerts

Function : Author

Koen Poesen

Function : Author

Pedro Rosa-Neto

Function : Author

Serge Gauthier

Function : Author

Agnès Camuzat

Function : Author

Institut du Cerveau = Paris Brain Institute

Alexis Brice

Function : Author
PersonId : 1104774
ORCID : 0000-0002-0941-3990
IdRef : 050512935

Institut du Cerveau = Paris Brain Institute

Anne Bertrand

Function : Author

Institut du Cerveau = Paris Brain Institute

Aurélie Funkiewiez

Function : Author

Institut du Cerveau = Paris Brain Institute

Daisy Rinaldi

Function : Author

Institut du Cerveau = Paris Brain Institute

Dario Saracino

Function : Author

Institut du Cerveau = Paris Brain Institute

Olivier Colliot

Function : Author

Institut du Cerveau = Paris Brain Institute

Sabrina Sayah

Function : Author

Institut du Cerveau = Paris Brain Institute

Catharina Prix

Function : Author

Elisabeth Wlasich

Function : Author

Olivia Wagemann

Function : Author

Sandra Loosli

Function : Author

Sonja Schönecker

Function : Author

Tobias Hoegen

Function : Author

Jolina Lombardi

Function : Author

Sarah Anderl-Straub

Function : Author

Adeline Rollin

Function : Author

Gregory Kuchcinski

Function : Author

Maxime Bertoux

Function : Author

Thibaud Lebouvier

Function : Author
PersonId : 754049
IdHAL : thibaud-lebouvier
ORCID : 0000-0002-6630-394X
IdRef : 177112190

Vincent Deramecourt

Function : Author

Beatriz Santiago

Function : Author

Diana Duro

Function : Author

Maria João Leitão

Function : Author

Maria Rosario Almeida

Function : Author

Miguel Tábuas-Pereira

Function : Author

Sónia Afonso

Function : Author

Abstract

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.

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Neurons and Cognition [q-bio.NC]

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https://hal.sorbonne-universite.fr/hal-04531092

Submitted on : Wednesday, April 3, 2024-4:14:30 PM

Last modification on : Wednesday, November 20, 2024-10:02:49 AM

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hal-04531092 , version 1 (03-04-2024)

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HAL Id : hal-04531092 , version 1
DOI : 10.1136/jnnp-2022-330152

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Kiran Samra, Amy Macdougall, Georgia Peakman, Arabella Bouzigues, Martina Bocchetta, et al.. Neuropsychiatric symptoms in genetic frontotemporal dementia: developing a new module for Clinical Rating Scales. Journal of Neurology, Neurosurgery and Psychiatry, 2023, 94 (5), pp.357-368. ⟨10.1136/jnnp-2022-330152⟩. ⟨hal-04531092⟩

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

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