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Non‐motor phenotypic subgroups in adult‐onset idiopathic, isolated, focal cervical dystonia

Megan E. Wadon Orcid Logo, Grace Bailey Orcid Logo, Zehra Yilmaz, Emily Hubbard, Meshari AlSaeed, Amy Robinson, Duncan McLauchlan, Richard L. Barbano, Laura Marsh, Stewart A. Factor, Susan H. Fox, Charles H. Adler, Ramon L. Rodriguez, Cynthia L. Comella, Stephen G. Reich, William L. Severt, Christopher G. Goetz, Joel S. Perlmutter, Hyder A. Jinnah, Katharine E. Harding, Cynthia Sandor, Kathryn J. Peall

Brain and Behavior, Volume: 11, Issue: 8

Swansea University Author: Grace Bailey Orcid Logo

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DOI (Published version): 10.1002/brb3.2292

Abstract

Background: Non-motor symptoms are well established phenotypic components of adult-onset idiopathic, isolated, focal cervical dystonia (AOIFCD). However, improved understanding of their clinical heterogeneity is needed to better target therapeutic intervention. Here, we examine non-motor phenotypic...

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Published in: Brain and Behavior
ISSN: 2162-3279 2162-3279
Published: Wiley 2021
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URI: https://cronfa.swan.ac.uk/Record/cronfa66536
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Here, we examine non-motor phenotypic features to identify possible AOIFCD subgroups.Methods: Participants diagnosed with AOIFCD were recruited via specialist neurology clinics (dystonia wales: n = 114, dystonia coalition: n = 183). Non-motor assessment included psychiatric symptoms, pain, sleep disturbance, and quality of life, assessed using self-completed questionnaires or face-to-face assessment. Both cohorts were analyzed independently using Cluster, and Bayesian multiple mixed model phenotype analyses to investigate the relationship between non-motor symptoms and determine evidence of phenotypic subgroups.Results: Independent cluster analysis of the two cohorts suggests two predominant phenotypic subgroups, one consisting of approximately a third of participants in both cohorts, experiencing increased levels of depression, anxiety, sleep impairment, and pain catastrophizing, as well as, decreased quality of life. The Bayesian approach reinforced this with the primary axis, which explained the majority of the variance, in each cohort being associated with psychiatric symptomology, and also sleep impairment and pain catastrophizing in the Dystonia Wales cohort.Conclusions: Non-motor symptoms accompanying AOIFCD parse into two predominant phenotypic sub-groups, with differences in psychiatric symptoms, pain catastrophizing, sleep quality, and quality of life. 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spelling v2 66536 2024-05-29 Non‐motor phenotypic subgroups in adult‐onset idiopathic, isolated, focal cervical dystonia 1e09a407fca9e8047e7738b18d381130 0000-0003-4646-3134 Grace Bailey Grace Bailey true false 2024-05-29 MEDS Background: Non-motor symptoms are well established phenotypic components of adult-onset idiopathic, isolated, focal cervical dystonia (AOIFCD). However, improved understanding of their clinical heterogeneity is needed to better target therapeutic intervention. Here, we examine non-motor phenotypic features to identify possible AOIFCD subgroups.Methods: Participants diagnosed with AOIFCD were recruited via specialist neurology clinics (dystonia wales: n = 114, dystonia coalition: n = 183). Non-motor assessment included psychiatric symptoms, pain, sleep disturbance, and quality of life, assessed using self-completed questionnaires or face-to-face assessment. Both cohorts were analyzed independently using Cluster, and Bayesian multiple mixed model phenotype analyses to investigate the relationship between non-motor symptoms and determine evidence of phenotypic subgroups.Results: Independent cluster analysis of the two cohorts suggests two predominant phenotypic subgroups, one consisting of approximately a third of participants in both cohorts, experiencing increased levels of depression, anxiety, sleep impairment, and pain catastrophizing, as well as, decreased quality of life. The Bayesian approach reinforced this with the primary axis, which explained the majority of the variance, in each cohort being associated with psychiatric symptomology, and also sleep impairment and pain catastrophizing in the Dystonia Wales cohort.Conclusions: Non-motor symptoms accompanying AOIFCD parse into two predominant phenotypic sub-groups, with differences in psychiatric symptoms, pain catastrophizing, sleep quality, and quality of life. Improved understanding of these symptom groups will enable better targeted pathophysiological investigation and future therapeutic intervention. Journal Article Brain and Behavior 11 8 Wiley 2162-3279 2162-3279 dystonia disorders; phenotype; surveys and questionnaires; torticollis 1 8 2021 2021-08-01 10.1002/brb3.2292 COLLEGE NANME Medical School COLLEGE CODE MEDS Swansea University National Center for Advancing Clinical and Translational Studies, Grant/Award Number: U54 TR001456; National Institute for Neurological Diseases and Stroke, Grant/Award Number: U54 NS065701 and U54 NS116025 2024-06-20T11:04:10.4890641 2024-05-29T20:06:48.7405047 Faculty of Medicine, Health and Life Sciences Swansea University Medical School - Health Data Science Megan E. Wadon 0000-0002-7694-6228 1 Grace Bailey 0000-0003-4646-3134 2 Zehra Yilmaz 3 Emily Hubbard 4 Meshari AlSaeed 5 Amy Robinson 6 Duncan McLauchlan 7 Richard L. Barbano 8 Laura Marsh 9 Stewart A. Factor 10 Susan H. Fox 11 Charles H. Adler 12 Ramon L. Rodriguez 13 Cynthia L. Comella 14 Stephen G. Reich 15 William L. Severt 16 Christopher G. Goetz 17 Joel S. Perlmutter 18 Hyder A. Jinnah 19 Katharine E. Harding 20 Cynthia Sandor 21 Kathryn J. Peall 22 66536__30692__61ec571584484fdba7b35da285f95ce4.pdf 66536.VoR.pdf 2024-06-20T11:02:16.7693802 Output 1528052 application/pdf Version of Record true © 2021 The Authors. This is an open access article under the terms of the Creative Commons Attribution License. true eng http://creativecommons.org/licenses/by/4.0/
title Non‐motor phenotypic subgroups in adult‐onset idiopathic, isolated, focal cervical dystonia
spellingShingle Non‐motor phenotypic subgroups in adult‐onset idiopathic, isolated, focal cervical dystonia
Grace Bailey
title_short Non‐motor phenotypic subgroups in adult‐onset idiopathic, isolated, focal cervical dystonia
title_full Non‐motor phenotypic subgroups in adult‐onset idiopathic, isolated, focal cervical dystonia
title_fullStr Non‐motor phenotypic subgroups in adult‐onset idiopathic, isolated, focal cervical dystonia
title_full_unstemmed Non‐motor phenotypic subgroups in adult‐onset idiopathic, isolated, focal cervical dystonia
title_sort Non‐motor phenotypic subgroups in adult‐onset idiopathic, isolated, focal cervical dystonia
author_id_str_mv 1e09a407fca9e8047e7738b18d381130
author_id_fullname_str_mv 1e09a407fca9e8047e7738b18d381130_***_Grace Bailey
author Grace Bailey
author2 Megan E. Wadon
Grace Bailey
Zehra Yilmaz
Emily Hubbard
Meshari AlSaeed
Amy Robinson
Duncan McLauchlan
Richard L. Barbano
Laura Marsh
Stewart A. Factor
Susan H. Fox
Charles H. Adler
Ramon L. Rodriguez
Cynthia L. Comella
Stephen G. Reich
William L. Severt
Christopher G. Goetz
Joel S. Perlmutter
Hyder A. Jinnah
Katharine E. Harding
Cynthia Sandor
Kathryn J. Peall
format Journal article
container_title Brain and Behavior
container_volume 11
container_issue 8
publishDate 2021
institution Swansea University
issn 2162-3279
2162-3279
doi_str_mv 10.1002/brb3.2292
publisher Wiley
college_str Faculty of Medicine, Health and Life Sciences
hierarchytype
hierarchy_top_id facultyofmedicinehealthandlifesciences
hierarchy_top_title Faculty of Medicine, Health and Life Sciences
hierarchy_parent_id facultyofmedicinehealthandlifesciences
hierarchy_parent_title Faculty of Medicine, Health and Life Sciences
department_str Swansea University Medical School - Health Data Science{{{_:::_}}}Faculty of Medicine, Health and Life Sciences{{{_:::_}}}Swansea University Medical School - Health Data Science
document_store_str 1
active_str 0
description Background: Non-motor symptoms are well established phenotypic components of adult-onset idiopathic, isolated, focal cervical dystonia (AOIFCD). However, improved understanding of their clinical heterogeneity is needed to better target therapeutic intervention. Here, we examine non-motor phenotypic features to identify possible AOIFCD subgroups.Methods: Participants diagnosed with AOIFCD were recruited via specialist neurology clinics (dystonia wales: n = 114, dystonia coalition: n = 183). Non-motor assessment included psychiatric symptoms, pain, sleep disturbance, and quality of life, assessed using self-completed questionnaires or face-to-face assessment. Both cohorts were analyzed independently using Cluster, and Bayesian multiple mixed model phenotype analyses to investigate the relationship between non-motor symptoms and determine evidence of phenotypic subgroups.Results: Independent cluster analysis of the two cohorts suggests two predominant phenotypic subgroups, one consisting of approximately a third of participants in both cohorts, experiencing increased levels of depression, anxiety, sleep impairment, and pain catastrophizing, as well as, decreased quality of life. The Bayesian approach reinforced this with the primary axis, which explained the majority of the variance, in each cohort being associated with psychiatric symptomology, and also sleep impairment and pain catastrophizing in the Dystonia Wales cohort.Conclusions: Non-motor symptoms accompanying AOIFCD parse into two predominant phenotypic sub-groups, with differences in psychiatric symptoms, pain catastrophizing, sleep quality, and quality of life. Improved understanding of these symptom groups will enable better targeted pathophysiological investigation and future therapeutic intervention.
published_date 2021-08-01T11:04:11Z
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score 11.012678

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