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research article

Diagnostic delay of multiple sclerosis: prevalence, determinants and consequences

Uher, Tomas
•
Adzima, Adrian
•
Srpova, Barbora
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October 16, 2023
Multiple Sclerosis Journal

Background: Early diagnosis and treatment of patients with multiple sclerosis (MS) are associated with better outcomes; however, diagnostic delays remain a major problem.Objective: Describe the prevalence, determinants and consequences of delayed diagnoses.Methods: This single-centre ambispective study analysed 146 adult relapsing-remitting MS patients (2016-2021) for frequency and determinants of diagnostic delays and their associations with clinical, cognitive, imaging and biochemical measures.Results: Diagnostic delays were identified in 77 patients (52.7%), including 42 (28.7%) physician-dependent cases and 35 (24.0%) patient-dependent cases. Diagnosis was delayed in 22 (15.1%) patients because of misdiagnosis by a neurologist. A longer diagnostic delay was associated with trends towards greater Expanded Disability Status Scale (EDSS) scores (B = 0.03; p = 0.034) and greater z-score of the blood neurofilament light chain (B = 0.35; p = 0.031) at the time of diagnosis. Compared with patients diagnosed at their first clinical relapse, patients with a history of >1 relapse at diagnosis (n = 63; 43.2%) had a trend towards greater EDSS scores (B = 0.06; p = 0.006) and number of total (B = 0.13; p = 0.040) and periventricular (B = 0.06; p = 0.039) brain lesions.Conclusion: Diagnostic delays in MS are common, often determined by early misdiagnosis and associated with greater disease burden.

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Type
research article
DOI
10.1177/13524585231197076
Web of Science ID

WOS:001086455700001

Author(s)
Uher, Tomas
Adzima, Adrian
Srpova, Barbora
Noskova, Libuse
Marechal, Benedicte  
Maceski, Aleksandra Maleska
Krasensky, Jan
Stastna, Dominika
Andelova, Michaela
Novotna, Klara
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Date Issued

2023-10-16

Publisher

Sage Publications Ltd

Published in
Multiple Sclerosis Journal
Volume

29

Issue

11-12

Start page

1437

End page

1451

Subjects

Life Sciences & Biomedicine

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Delayed Diagnosis

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Misdiagnosis

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Brain Lesion

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Magnetic Resonance Imaging

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Neurofilament

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Cerebrospinal Fluid

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Disability

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Multiple Sclerosis

Editorial or Peer reviewed

REVIEWED

Written at

EPFL

FunderGrant Number

The authors thank the patients who participated in this study.

Available on Infoscience
February 16, 2024
Use this identifier to reference this record
https://infoscience.epfl.ch/handle/20.500.14299/203894
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