@article{2a18b198dbbb4e8c947bce301270d552,
title = "Diagnostic criteria for blepharospasm: A multicenter international study",
abstract = "Background: There are no widely accepted criteria to aid the physician in diagnosing BSP. Objective: To validate recently proposed diagnostic criteria for blepharospasm in a larger and geographically diverse population and to develop a screening system for blepharospasm. Methods: Video-recordings from 211 blepharospasm patients and 166 healthy/disease controls were examined by 8 raters. Agreement for presence of orbicularis oculi spasms, sensory trick, and increased blinking was measured by k statistics. Inability to voluntarily suppress the spasms was asked by the examiner but not captured in the video. Patients/controls were also requested to fill a self-administered questionnaire addressing relevant blepharospasm clinical aspects. The diagnosis at each site was the gold standard for sensitivity/specificity. Results: All the study items yielded satisfactory inter/intra-observer agreement. Combination of items rather than each item alone reached satisfactory sensitivity/specificity. The combined algorithm started with recognition of spasms followed by sensory trick. In the absence of a sensory trick, including “increased blinking” or “inability to voluntarily suppress the spasms” or both items yielded 88–92% sensitivity and 79–83% specificity. No single question of the questionnaire yielded high sensitivity/specificity. Serial application of the questionnaire to our blepharospasm and control subjects and subsequent clinical examination of subjects screening positive by the validated diagnostic algorithms yielded 78–81% sensitivity and 83–91% specificity. Conclusion: These results support the use of proposed diagnostic criteria in multi-ethnic, multi-center cohorts. We also propose a case-finding procedure to screen blepharospasm in a given population with less effort than would be required by examination of all subjects.",
keywords = "Blepharospasm, Diagnosis, Dystonia",
author = "Giovanni Defazio and Jinnah, {Hyder A.} and Alfredo Berardelli and Perlmutter, {Joel S.} and Berkmen, {Gamze Kilic} and Berman, {Brian D.} and Joseph Jankovic and Tobias B{\"a}umer and Cynthia Comella and Cotton, {Adam C.} and Tommaso Ercoli and Gina Ferrazzano and Susan Fox and Kim, {Han Joon} and Moukheiber, {Emile Sami} and Richardson, {Sarah Pirio} and Anne Weissbach and Wrigth, {Laura J.} and Mark Hallett",
note = "Funding Information: G. Defazio reports no disclosures; HA Jinnah has active or recent grant support from the US government (National Institutes of Health), private philanthropic organizations (Cure Dystonia Now), and industry (Revance Therapeutics, Inc.). Dr. Jinnah has also served on advisory boards or as a consultant for Addex, Allergan, CoA Therapeutics, Cavion Therapeutics, EnePharmaceuticals, Ipsen, Retrophin, Revance, and Takaha Pharmaceuticals. He has received honoraria or stipends for lectures or administrative work from the International Parkinson's Disease and Movement Disorders Society. Dr. Jinnah 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 principal 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 Benign Essential Blepharospasm Foundation, Cure Dystonia Now, The Dystonia Medical Research Foundation, and The National Spasmodic Dysphonia Association); A. Berardelli reports no disclosure; JS Perlmutter has received research grant support from NIH (NCRR/NCATS, UNM CTSC KL21TR001448-01 and UL1TR001449) and Dystonia Coalition Projects (NIH/NINDS/ORDR) and has received publishing royalties from Springer; G. Berkmen reports no disclosure; B. Berman 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 & Translational Science Institute and Center for Neuroscience, Tools4Patient, Parkinson's Foundation, and Virginia Commonwealth University School of Medicine. He is on the medical advisory board of the Benign Essential Blepharospasm Research Foundation and the National Spasmodic Torticollis Association; J Jankovic 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. Dr. Jankovic has served as a consultant for Aeon BioPharma; Nuvelution Pharma, Inc; Teva Pharmaceutical Industries Ltd. Dr. Jankovic has received royalties from Cambridge; Elsevier; Medlink: Neurology; Lippincott Williams and Wilkins; Wiley-Blackwell; T. Baumer reports no disclosure; C. Comella serves on the editorial board of Clinical Neuropharmacology and Sleep Medicine. She receives compensation/honoraria for services as a consultant or an advisory committee member: Acorda Therapeutics, Allergan, Inc; Lundbeck Ltd.; Merz Pharmaceuticals; Acadia Pharmaceuticals; Ipsen Pharmaceuticals, Jazz. Pharmaceuticals, Neurocrine Biosciences Inc., Revance Therapeutic, Sunovion., AEON Biopharma. She receives royalties from Cambridge University Press and Wolters Kluwer. She receives research support from the Parkinson's Disease Foundation; A. Cotton reports no disclosure; T Ercoli reports no disclosure; G. Ferrazzano reports no disclosure; SH Fox reports no disclosure; HJ Kim received travel grant support from the International Parkinson and Movement Disorder Society and Korean Movement Disorder Society and research grants support from the Institute for Information and Communications Technology Promotion, Seoul National University Hospital, New York University, and C-TRI; E Moukheiber reports no disclosure; A Weissbach received funding from the Else Kr{\"o}ner-Fresenius Foundation (EKFS, 2018_A55) and the German Research Foundation (DFG, WE 5919/2-1); S Pirio Richardson has received royalities from Springer; research support from the National Institutes of Health (P20 GM109899; U54 NS116025), Department of Defense (W81XWH-19-CTRR-CTA) and Pharma 2B; L Wright reports no disclosure; M. Hallett is an inventor of patents held by NIH for an immunotoxin for the treatment of focal movement disorders and the H-coil for magnetic stimulation; in relation to the latter, he has received license fee payments from the NIH (from Brainsway). He is on the Medical Advisory Boards of CALA Health and Brainsway (both unpaid positions). He is on the Editorial Board of approximately 15 journals and receives royalties and/or honoraria from publishing from Cambridge University Press, Oxford University Press, Springer, Wiley, Wolters Kluwer, and Elsevier. He has research grants from Medtronic, Inc. for a study of DBS for dystonia and CALA Health for studies of a device to suppress tremor. Funding Information: 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 Sciences ( NCATS ; U54 TR001456 ) in collaboration with the National Institute for Neurological Diseases and Stroke ( NINDS ; U54 NS065701 and U54 NS116025 ). Publisher Copyright: {\textcopyright} 2021",
year = "2021",
month = oct,
doi = "10.1016/j.parkreldis.2021.09.004",
language = "English",
volume = "91",
pages = "109--114",
journal = "Parkinsonism and Related Disorders",
issn = "1353-8020",
}