Giovanni Defazio1, Hyder A Jinnah2, Alfredo Berardelli3, Joel S Perlmutter4, Gamze Kilic Berkmen2, Brian D Berman5, Joseph Jankovic6, Tobias Bäumer7, Cynthia Comella8, Adam C Cotton2, Tommaso Ercoli9, Gina Ferrazzano3, Susan Fox10, Han-Joon Kim11, Emile Sami Moukheiber12, Sarah Pirio Richardson13, Anne Weissbach14, Laura J Wrigth4, Mark Hallett15. 1. Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy. Electronic address: giovanni.defazio@unica.it. 2. Department of Neurology and Human Genetics, Emory University, Atlanta, GA, USA. 3. Sapienza University of Rome, Rome, and IRCSS NEUROMED, Pozzilli (Is), Italy. 4. Washington University in St. Louis, St Louis, MO, USA. 5. Virginia Commonwealth University, Richmond, VA, USA. 6. Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, TX, USA. 7. Institute of Systems Motor Science, University of Luebeck, Luebeck, Germany. 8. Rush University Medical Center, New Philadelphia, OH, USA. 9. Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy. 10. Toronto Western Hospital, University of Toronto, Canada. 11. Department of Neurology and Movement Disorder Centre, Seoul National University Hospital, Seoul, South Korea. 12. Department of Neurology, Johns Hopkins University, Baltimore, MD, USA. 13. Department of Neurology, University of New Mexico, Albuquerque, NM, USA. 14. Institute of Systems Motor Science, University of Luebeck, Luebeck, Germany; Institute of Neurogenetics, University of Luebeck, Luebeck, Germany. 15. Human Motor Control Section, NINDS, NIH, Bethesda, MD, USA.
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.
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.
Authors: Giovanni Defazio; Tommaso Ercoli; Roberto Erro; Roberta Pellicciari; Marcello Mario Mascia; Giovanni Fabbrini; Alberto Albanese; Stefania Lalli; Roberto Eleopra; Paolo Barone; Roberta Marchese; Roberto Ceravolo; Cesa Scaglione; Rocco Liguori; Marcello Esposito; Anna Rita Bentivoglio; Laura Bertolasi; Maria Concetta Altavista; Francesco Bono; Antonio Pisani; Paolo Girlanda; Alfredo Berardelli Journal: Mov Disord Date: 2020-07-14 Impact factor: 10.338
Authors: R Saunders-Pullman; J Soto-Valencia; C Costan-Toth; J Shriberg; D Raymond; C A Derby; R B Lipton; S B Bressman Journal: Neurology Date: 2005-06-28 Impact factor: 9.910
Authors: Brian D Berman; Christopher L Groth; Stefan H Sillau; Sarah Pirio Richardson; Scott A Norris; Johanna Junker; Norbert Brüggemann; Pinky Agarwal; Richard L Barbano; Alberto J Espay; Joaquin A Vizcarra; Christine Klein; Tobias Bäumer; Sebastian Loens; Stephen G Reich; Marie Vidailhet; Cecilia Bonnet; Emmanuel Roze; Hyder A Jinnah; Joel S Perlmutter Journal: J Neurol Neurosurg Psychiatry Date: 2019-12-17 Impact factor: 10.154