Swallowing assessment in myotonic dystrophy type 1 using fiberoptic endoscopic evaluation of swallowing (FEES)
Introduction
Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy in adults. Its main clinical features are myotonia and weakness of facial, axial, and distal muscles [1]. Besides its neuromuscular symptoms, DM1 has many other systemic manifestations, notably endocrine dysfunction and cardiac conduction defects [1]. Though progressing slowly, the disease can be extremely disabling, especially in later stages as weakness becomes generalized and respiratory muscles are affected [2]. The association with dysphagia leads to a high mortality rate in this population due to pneumonia and respiratory failure, whereby the median age at death is 56 years for patients with the adult type of DM1 [3], [4]. Oropharyngeal dysphagia, although highly prevalent in DM1 patients, has received little attention in the literature. A safe and reliable method to evaluate it is fiberoptic endoscopic evaluation of swallowing (FEES) [5], [6]. FEES permits anatomical assessment of the pharyngeal structures and provides a comprehensive evaluation of the pharyngeal stage of swallowing. Even though FEES has been recommended by many, few studies have described its application in DM1 patients [7], [8].
There is no curative treatment for DM1, but patients’ quality of life can be improved by managing the symptoms. Complications such as aspiration may be prevented by swallowing treatment, which usually entails changes in food consistency to improve swallowing safety [9]. However, reports on the impact of different consistencies in the swallowing performance of DM1 are scant. To help fill that gap, this study describes the swallowing function of DM1 patients and the effects of bolus consistency on swallowing safety. The aim of the study is twofold: (a) to identify which (and to what extent) swallowing variables change for DM1 patients relative to healthy control subjects and (b) to examine whether the degree of oropharyngeal dysphagia is associated with disease severity.
Section snippets
Participants
All DM1 patients were referred to the multidisciplinary outpatient clinic for dysphagia in the Maastricht University Medical Center (MUMC) by their neurologist as part of the regular health care program for these patients. Their diagnosis was based on genetic analysis. The neuromuscular involvement of the disease was scored by a neurologist with the muscular impairment rating scale (MIRS) [10]. The MIRS scale consists of 5 levels: (1) no muscular impairment; (2) minimal signs: myotonia, jaw and
Reliability results
Intra- and interrater reliability were sufficient for all FEES variables (weighted kappa > 0.61).
Characteristics of the participants
Forty-five consecutive DM1 patients and 10 healthy control subjects were included in the study. Their characteristics are presented in Table 3. The main dysphagia complains (if present) reported by the patients during the interview were: increased duration of mealtime, coughing while drinking, choking on foods etc. Given the sparse cell counts of MIRS 2 and 3 (none in MIRS 1), these categories were
Discussion
This study shows that dysphagia is common in DM1 patients. Its presence is probably underestimated in this population as patients do not usually report swallowing complaints unless specifically questioned [14], [15], [16]. This underreporting is well represented by the FOIS values. Although swallowing function was clearly impaired in most of the patients, none of them scored FOIS values of 4 (total oral diet of a single consistency) or less. Apparently, the adaptation of food consistency to
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