@article{fe58df3a56d84f35af07c522cbce0825,
title = "Non-motor phenotypic subgroups in adult-onset idiopathic, isolated, focal cervical dystonia",
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 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.",
keywords = "dystonia disorders, phenotype, surveys and questionnaires, torticollis",
author = "Wadon, {Megan E.} and Bailey, {Grace A.} and Zehra Yilmaz and Emily Hubbard and Meshari AlSaeed and Amy Robinson and Duncan McLauchlan and Barbano, {Richard L.} and Laura Marsh and Factor, {Stewart A.} and Fox, {Susan H.} and Adler, {Charles H.} and Rodriguez, {Ramon L.} and Comella, {Cynthia L.} and Reich, {Stephen G.} and Severt, {William L.} and Goetz, {Christopher G.} and Perlmutter, {Joel S.} and Jinnah, {Hyder A.} and Harding, {Katharine E.} and Cynthia Sandor and Peall, {Kathryn J.}",
note = "Funding Information: The authors would like to thank all of the participants that took part in this work as well as the referring clinicians. This work was supported by the Jacques and Gloria Gossweiler Foundation, Dystonia Medical Research Foundation, Fight for Sight and The Dystonia Society UK. The work was also supported in part by grants to the Dystonia Coalition, a consortium of the Rare Diseases Clinical Research Network (RDCRN) that is supported by the Office of Rare Diseases Research (ORDR) at the National Center for Advancing Clinical and Translational Studies (NCATS; U54 TR001456) in collaboration with the National Institute for Neurological Diseases and Stroke (NINDS; U54 NS065701 and U54 NS116025). Funding Information: information: 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 NS116025The authors would like to thank all of the participants that took part in this work as well as the referring clinicians. This work was supported by the Jacques and Gloria Gossweiler Foundation, Dystonia Medical Research Foundation, Fight for Sight and The Dystonia Society UK. The work was also supported in part by grants to the Dystonia Coalition, a consortium of the Rare Diseases Clinical Research Network (RDCRN) that is supported by the Office of Rare Diseases Research (ORDR) at the National Center for Advancing Clinical and Translational Studies (NCATS; U54 TR001456) in collaboration with the National Institute for Neurological Diseases and Stroke (NINDS; U54 NS065701 and U54 NS116025). Publisher Copyright: {\textcopyright} 2021 The Authors. Brain and Behavior published by Wiley Periodicals LLC",
year = "2021",
month = aug,
doi = "10.1002/brb3.2292",
language = "English",
volume = "11",
journal = "Brain and Behavior",
issn = "2162-3279",
number = "8",
}