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A Preliminary Videofluoroscopic Investigation of Swallowing Physiology and Function in Individuals with Oculopharyngeal Muscular Dystrophy (OPMD)

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Abstract

Dysphagia is one of the primary symptoms experienced by individuals with Oculopharyngeal Muscular Dystrophy (OPMD). However, we lack understanding of the discrete changes in swallowing physiology that are seen in OPMD, and the resulting relationship to impairments of swallowing safety and efficiency. This study sought to describe the pathophysiology of dysphagia in a small sample of patients with OPMD using a videofluoroscopy examination (VFSS) involving 3 × 5 mL boluses of thin liquid barium (22% w/v). The aim of this study is to extend what is known about the pathophysiology of dysphagia in OPMD, by quantifying changes in swallow timing, kinematics, safety, and efficiency, measured from VFSS. This study is a secondary analysis of baseline VFSS collected from 11 adults (4 male), aged 48–62 (mean 57) enrolled in an industry-sponsored phase 2 therapeutic drug trial. Blinded raters scored the VFSS recordings for safety [Penetration-Aspiration Scale (PAS)], efficiency [Normalized Residue Ratio Scale (NRRS)], timing [Pharyngeal Transit Time (PTT), Swallow Reaction Time (SRT), Laryngeal Vestibule Closure Reaction Time (LVCrt), Upper Esophageal Sphincter Opening Duration (UESD)], and kinematics (hyoid movement, pharyngeal constriction, UES opening width). Impairment thresholds from existing literature were defined to characterize swallowing physiology and function. Further, Fisher’s Exact tests and Pearson’s correlations were used to conduct a preliminary exploration of associations between swallowing physiology (e.g., kinematics, timing) and function (i.e., safety, efficiency). Compared to published norms, we identified significant differences in the degree of maximum pharyngeal constriction, hyoid movement distance and speed, as well as degree and timeliness of airway closure. Unsafe swallowing (PAS ≥ 3) was seen in only 3/11 patients. By contrast, clinically significant residue (i.e., NRRS scores ≥ 0.09 vallecular; ≥ 0.2 pyriform) was seen in 7/11 patients. Fisher’s Exact tests revealed associations between prolonged SRT, PTT, and unsafe swallowing. Weak associations were also identified between post-swallow residue and poor pharyngeal constriction during the swallow. Detailed analysis of swallowing physiology in this series of adults with OPMD aligns with impaired muscular function (e.g., reduced pharyngeal constriction, incomplete laryngeal vestibule closure) associated with the disease, and primary functional challenges with swallow efficiency. Further work is needed to explore a greater range of food and liquid textures, and to identify additional physiological mechanisms underlying swallowing impairment in OPMD.

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Acknowledgements

The authors wish to thank Irit Gliko-Kabir, PhD, formerly Senior Director Clinical Development with BioBlast Pharma for her role in study design and data collection, as well as Dr. Warren Wasiewski for his comments on an earlier version of this manuscript. We also gratefully acknowledge Vivian Chak, Robbyn Draimin, Ashwini Namasivayam, Sonya Torreiter, Teresa Valenzano, and Talia Wolkin for their assistance with data analysis.

Funding

Funding for this study was provided by BioBlast Pharma Ltd., Tel Aviv, Israel.

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Authors and Affiliations

  1. Swallowing Rehabilitation Research Laboratory, Toronto Rehabilitation Institute - University Health Network, 550 University Avenue, 12th Floor, Toronto, ON, M5G 2A2, Canada

    Ashley A. Waito, Catriona M. Steele & Melanie Peladeau-Pigeon

  2. Rehabilitation Sciences Institute, University of Toronto, Toronto, ON, Canada

    Ashley A. Waito & Catriona M. Steele

  3. Montreal Neurological Institute and Hospital, McGill University, Montreal, QC, Canada

    Angela Genge

  4. BioBlast Pharma Ltd., Tel Aviv, Israel

    Zohar Argov

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  1. Ashley A. Waito
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  2. Catriona M. Steele
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Correspondence to Ashley A. Waito.

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This is a secondary analysis of data from a clinical drug trial. The original study received Human Subjects approval from the institutional research ethics board, and informed consent was obtained from all individual participants.

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The authors have no conflicts of interest to disclose.

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Waito, A.A., Steele, C.M., Peladeau-Pigeon, M. et al. A Preliminary Videofluoroscopic Investigation of Swallowing Physiology and Function in Individuals with Oculopharyngeal Muscular Dystrophy (OPMD). Dysphagia 33, 789–802 (2018). https://doi.org/10.1007/s00455-018-9904-9

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