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Accuracy of high-speed video analysis to diagnose primary ciliary dyskinesia

Accuracy of high-speed video analysis to diagnose primary ciliary dyskinesia
Accuracy of high-speed video analysis to diagnose primary ciliary dyskinesia
Background: primary ciliary dyskinesia (PCD) is a rare genetic disease that impairs motility of cilia. Diagnosis relies on a combination of tests and final decision by multidisciplinary team (MDT). High-speed video microscopy (HSVM) is an important contribution to diagnostic testing, and is the only test that examines cilia motility on the day of patients’ appointment. No study has assessed the accuracy of HSVM. We hypothesised that scientists experienced in cilia assessment by HSVM would accurately diagnose PCD using HSVM alone compared to MDT diagnosis.

Methods: we used 720 archived videos from 120 patients referred to three UK PCD diagnostic services in 2015-17. One scientist from each PCD centre reviewed videos, blinded to diagnostic and clinical data, and scored them for final diagnosis using a standardised proforma. We compared the final scoring for each scientist to: a) a report containing final diagnosis from the MDT decision, and b) diagnostic criteria provided in the 2017 ERS PCD diagnostic guidelines.

Results: sensitivity and specificity were: a) 96.1% and 100% respectively when compared to MDT decision, and b) 95.7% and 100% respectively when compared to ERS guidelines criteria. Inter-rater reliability between the three scientists was substantial (k=0.7) for ‘PCD positive’, and moderate (k=0.44) for ‘PCD highly unlikely’.

Conclusions: specialist scientists accurately diagnosed PCD using HSVM analysis, with high inter-observer agreement. HSVM can be used to reliably counsel patients on their likely diagnosis on the same day as clinic appointment and inform clinicians on initiation of treatment while confirmatory investigations are conducted.
0012-3692
Rubbo, Bruna
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Shoemark, Amelia
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Jackson, Claire
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Hirst, Robert A.
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Thompson, James
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Heyes, Jospeh
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Frost, Emily
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Copeland, Fiona
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Hogg, Claire
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O'Callaghan, Christopher
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Reading, Isabel
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Lucas, Jane
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Rubbo, Bruna
938f54c6-0d65-4b5a-99be-b4dfbdeadc83
Shoemark, Amelia
6197d7b4-f36b-47bf-b138-373e1aa4b63b
Jackson, Claire
64cdd6fa-74c3-4ac6-94ef-070620a6efd9
Hirst, Robert A.
dd5c6665-eac6-402d-9639-571973fdaeaf
Thompson, James
a0a1e940-d720-47de-81d7-ebcd48738239
Heyes, Jospeh
37ebdd70-0e87-41eb-af0c-9ccc3242a33a
Frost, Emily
738ef107-4004-4162-90a3-1d41b4d03c2a
Copeland, Fiona
17a56166-3d7c-443e-a598-e1320eacc13f
Hogg, Claire
c9ad22a2-f6e4-413a-beda-63994b753365
O'Callaghan, Christopher
f8ec0a7e-64e0-469e-b1cd-c40b33e701ae
Reading, Isabel
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Lucas, Jane
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Rubbo, Bruna, Shoemark, Amelia, Jackson, Claire, Hirst, Robert A., Thompson, James, Heyes, Jospeh, Frost, Emily, Copeland, Fiona, Hogg, Claire, O'Callaghan, Christopher, Reading, Isabel and Lucas, Jane (2019) Accuracy of high-speed video analysis to diagnose primary ciliary dyskinesia. Chest. (doi:10.1016/j.chest.2019.01.036).

Record type: Article

Abstract

Background: primary ciliary dyskinesia (PCD) is a rare genetic disease that impairs motility of cilia. Diagnosis relies on a combination of tests and final decision by multidisciplinary team (MDT). High-speed video microscopy (HSVM) is an important contribution to diagnostic testing, and is the only test that examines cilia motility on the day of patients’ appointment. No study has assessed the accuracy of HSVM. We hypothesised that scientists experienced in cilia assessment by HSVM would accurately diagnose PCD using HSVM alone compared to MDT diagnosis.

Methods: we used 720 archived videos from 120 patients referred to three UK PCD diagnostic services in 2015-17. One scientist from each PCD centre reviewed videos, blinded to diagnostic and clinical data, and scored them for final diagnosis using a standardised proforma. We compared the final scoring for each scientist to: a) a report containing final diagnosis from the MDT decision, and b) diagnostic criteria provided in the 2017 ERS PCD diagnostic guidelines.

Results: sensitivity and specificity were: a) 96.1% and 100% respectively when compared to MDT decision, and b) 95.7% and 100% respectively when compared to ERS guidelines criteria. Inter-rater reliability between the three scientists was substantial (k=0.7) for ‘PCD positive’, and moderate (k=0.44) for ‘PCD highly unlikely’.

Conclusions: specialist scientists accurately diagnosed PCD using HSVM analysis, with high inter-observer agreement. HSVM can be used to reliably counsel patients on their likely diagnosis on the same day as clinic appointment and inform clinicians on initiation of treatment while confirmatory investigations are conducted.

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Accepted/In Press date: 31 January 2019
e-pub ahead of print date: 28 February 2019

Identifiers

Local EPrints ID: 428100
URI: https://eprints.soton.ac.uk/id/eprint/428100
ISSN: 0012-3692
PURE UUID: 04bae3cf-1b9f-4c60-8c88-ac6807f4c6d7
ORCID for Isabel Reading: ORCID iD orcid.org/0000-0002-1457-6532

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Date deposited: 11 Feb 2019 17:30
Last modified: 03 Dec 2019 01:56

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Contributors

Author: Bruna Rubbo
Author: Amelia Shoemark
Author: Claire Jackson
Author: Robert A. Hirst
Author: James Thompson
Author: Jospeh Heyes
Author: Emily Frost
Author: Fiona Copeland
Author: Claire Hogg
Author: Christopher O'Callaghan
Author: Isabel Reading ORCID iD
Author: Jane Lucas

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