Multicenter Study

. 2021 Oct:91:109-114.

doi: 10.1016/j.parkreldis.2021.09.004. Epub 2021 Sep 8.

Diagnostic criteria for blepharospasm: A multicenter international study

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

Affiliations

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.

PMID: 34583301
PMCID: PMC9048224
DOI: 10.1016/j.parkreldis.2021.09.004

Multicenter Study

Diagnostic criteria for blepharospasm: A multicenter international study

Giovanni Defazio et al. Parkinsonism Relat Disord. 2021 Oct.

. 2021 Oct:91:109-114.

doi: 10.1016/j.parkreldis.2021.09.004. Epub 2021 Sep 8.

Authors

Affiliations

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.

PMID: 34583301
PMCID: PMC9048224
DOI: 10.1016/j.parkreldis.2021.09.004

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.

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Conflict of interest statement

Disclosures relevant to this work

The authors declare that there are no conflicts of interest relevant to this work.

Figures

**Fig. 1.**
Multistep blepharospasm-finding procedure in a group-based sample.

See this image and copyright information in PMC

References

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Diagnostic criteria for blepharospasm: A multicenter international study

Affiliations

Diagnostic criteria for blepharospasm: A multicenter international study

Authors

Affiliations

Abstract

Conflict of interest statement

Figures

References

Publication types

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources

Medical