Objective To evaluate the relationship between health-related quality of life (HR-QoL) and both physical and psychiatric factors in a large, international, multicentre cohort of patients with isolated dystonia, the Dystonia Coalition.
Methods Natural history data from 603 patients with isolated dystonia (median age 57 years (IQR: 48 to 64 years), 67.0% women) were prospectively acquired and analysed. HR-QoL (RAND 36-Item Health Survey), severity of depressive symptoms, generalised anxiety (Hospital Anxiety and Depression Scale) and social anxiety (Liebowitz Social Anxiety Scale) were assessed. Dystonia severity (Burke-Fahn-Marsden Dystonia Rating Scale) and dystonic tremor were examined. Statistical predictors of HR-QoL were calculated using saturated path analysis.
Results Reduced HR-QoL was strongly associated with the degree of depressive symptoms and generalised and social anxiety (8/8 RAND 36 subscales, p≤0.001). Increased dystonia severity was associated with worse physical functioning, physical and emotional role functioning and social functioning (all p≤0.001). The presence of tremor correlated with worse physical functioning and pain (all p≤0.006). Younger age was associated with reduced emotional well-being and vitality (all p≤0.006). There were no HR-QoL differences between sexes.
Conclusion HR-QoL in isolated dystonia is strongly associated with psychiatric and physical features. While current standard of care focus on motor aspects of dystonia, comprehensive care should address both physical and mental aspects of health.
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Contributors JJ, acquisition of data, study concept and design, analysis and interpretation of data, drafting of manuscript; JH, statistical analysis, critical revision of manuscript for intellectual content; VB, statistical analysis, critical revision of manuscript for intellectual content; BDB, DW, JSP, JJ, IAM, AWS, SGR, AJE, KRD, NP, ER, MV and HAJ acquisition of data, critical revision of manuscript for intellectual content; NB, study concept and design, analysis and interpretation of data, study supervision, critical revision of manuscript for intellectual content; Statistical Analysis conducted by JH and VB.
Funding This work was 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).
Competing interests BDB has received research grant support from the Dystonia Coalition (receives the majority of its support through NIH grant NS065701 from the Office of Rare Diseases Research in the National Center for Advancing Translational Science and National Institute of Neurological Disorders and Stroke), Benign Essential Blepharospasm Research Foundation, Colorado Clinical and Translational Science Institute and Center for Neuroscience, Tools4Patient, Parkinson’s Foundation and from Mary Rossick Kern and Jerome H. Kern. He is on the medical advisory board of the Benign Essential Blepharospasm Research Foundation and the National Spasmodic Torticollis Association. VB has received no financial or non-financial support relating to this project or the preparation of this paper. VB is currently receiving funding from the ROLI music company and Tourettes Action UK (TAPG2019) and the Academy of Medical Sciences Springboard Award. JSP has received research funding from National Institutes of Health (NCATS, NINDS, NIA), Michael J Fox Foundation, Barnes-Jewish Hospital Foundation (Elliot Stein Family Fund and Parkinson disease research fund), American Parkinson Disease Association (APDA) Advanced Research Center at Washington University, Greater St Louis Chapter of the APDA, Paula and Rodger Riney Fund, Jo Oertli Fund, the Murphy Fund, Huntington Disease Society of America and CHDI. He has received honoraria from CHDI, Huntington Disease Study Group, Parkinson Study Group, Beth Israel Hospital (Harvard group), U Pennsylvania, Stanford U. He also is co-director for the Dystonia Coalition, which has received the majority of its support through the NIH (grants NS116025, NS065701 from the National Institutes of Neurological Disorders and Stroke TR 001456 from the Office of Rare Diseases Research at the National Center for Advancing Translational Sciences). Dr Perlmutter serves as Director of Medical and Scientific Advisory Committee of the Dystonia Medical Research Foundation, Chair of the Scientific Advisory Committee of the Parkinson Study Group, Chair of the Standards Committee of the Huntington Study Group, member of the Scientific Advisory Board of the APDA, Chair of the Scientific and Publication Committee for ENROLL-HD and member of the Education Committee of the Huntington Study Group. JJ has received research/training funding from: AbbVie Inc; Acadia Pharmaceuticals; Allergan, Inc; Biotek; Cerevel Therapeutics; CHDI Foundation; Dystonia Coalition; Emalex Biosciences, Inc; F Hoffmann-La Roche Ltd; Huntington Study Group; Medtronic Neuromodulation; Merz Pharmaceuticals; Michael J Fox Foundation for Parkinson Research; National Institutes of Health; Neuraly, Inc; Neurocrine Biosciences; Parkinson’s Foundation; Parkinson Study Group; Prilenia Therapeutics; Revance Therapeutics, Inc; Teva Pharmaceutical Industries Ltd. IAM has participated in research funded by the Parkinson Foundation (PF), Tourette Association of America (TAA), Dystonia Coalition, AbbVie, Biogen, Boston Scientific, Eli Lilly, Impax, Neuroderm, Prilenia, Revance, Teva but has no owner interest in any pharmaceutical company. She is on the medical advisory board of the TAA. She has received travel compensation or honoraria from the TAA, PF, International Association of Parkinsonism and Related Disorders, Medscape and Cleveland Clinic, and royalties from Robert Rose publishers. AWS reports grants from the NIH and has received grant support from Benign Essential Blepharospasm Research Foundation, Dystonia Coalition, Dystonia Medical Research Foundation, National Organization for Rare Disorders and grant support from NIH (KL2 and K23 NS092957-01A1). Reports receiving honoraria from Acadia, Cavion, Elsevier and MJFF in past; Participates as a co-I for several NIH, foundation and industry sponsored trials over the years but has not received honoraria. SGR has active or recent grant support from NINDS and royalties from Springer and Informa. He has also served as a consultant for Best Doctors and as a reviewer for UpToDate. He serves on the Data Safety Monitoring Board for Enterin. AJE has received grant support from the NIH and the Michael J Fox Foundation; personal compensation as a consultant/scientific advisory board member for AbbVie, Neuroderm, Neurocrine, Amneal, Adamas, Acadia, Acorda, InTrance, Sunovion, Lundbeck, and USWorldMeds; publishing royalties from Lippincott Williams & Wilkins, Cambridge University Press, and Springer; and honoraria from USWorldMeds, Acadia, and Sunovion; NP has received honoraria as a speaker for USWorldMed and Teva and consultant for Revance and Acorda pharmaceutical. ER served on scientific advisory boards for Orkyn, Aguettant, Merz-Pharma; received honoraria for speeches from Orkyn, Aguettant, Merz-Pharma, Everpharma, International Parkinson and Movement disorders Society; received research support from Merz-Pharma, Orkyn, Aguettant, Elivie, Ipsen, Everpharma, Fondation Desmarest, AMADYS, Fonds de Dotation Brou de Laurière, Agence Nationale de la Recherche; received travel grant from Vitalair, PEPS development, Aguettant, Merz-Pharma, Ipsen, Merck, Orkyn, Elivie, Adelia Medical, Dystonia Medical Research Foundation, International Parkinson and Movement disorders Society, European Academy of Neurology, International Association of Parkinsonism and Related Disorders; HAJ has active or recent grant support from the US government (National Institutes of Health), private philanthropic organisations (Cure Dystonia Now), academically-oriented institutions (the Dystonia Study Group), and industry (Cavion Therapeutics, Ipsen Pharmaceuticals, Retrophin Inc.). HJ has also served on advisory boards or as a consultant for Allergan Inc, CoA Therapeutics, Cavion Therapeutics and Retrophin Inc. He has received honoraria or stipends for lectures or administrative work from the American Academy of Neurology, the American Neurological Association, the Dystonia Medical Research Foundation, the International Neurotoxin Society and the International Parkinson’s Disease and Movement Disorders Society. HJ serves on the Scientific Advisory Boards for several private foundations including the Benign Essential Blepharospasm Research Foundation, Cure Dystonia Now, the Dystonia Medical Research Foundation, the Tourette Association of America and Tyler's Hope for a Cure. He also is principle investigator for the Dystonia Coalition, which has received the majority of its support through the NIH (grants NS116025, NS065701 from the National Institutes of Neurological Disorders and Stroke TR 001456 from the Office of Rare Diseases Research at the National Center for Advancing Translational Sciences). The Dystonia Coalition has received additional material or administrative support from industry sponsors (Allergan Inc and Merz Pharmaceuticals) as well as private foundations (The American Dystonia Society, Beat Dystonia, The Benign Essential Blepharospasm Foundation, Cure Dystonia Now, Dystonia Europe, Dystonia Inc, Dystonia Ireland, The Dystonia Medical Research Foundation, The Foundation for Dystonia Research, The National Spasmodic Dysphonia Association and The National Spasmodic Torticollis Association). NB received speaker’s honoraria from Grünenthal, UCB, AbbVie and Teva. He served as consultant for Censa and Centogene. NB is funded by the DFG (BR4328.2-1, GRK1957).
Patient consent for publication Not required.
Ethics approval The study was approved by the local ethics committees of all clinical sites (Lübeck AZ11-145).
Data availability statement Data are available upon reasonable request. Anonymised data (study protocol, statistical analysis) will be shared by request from any qualified investigator. Data will be available for 10 years.
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