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. 2023 Sep 7;53(5):1301-1311.
doi: 10.55730/1300-0144.5696. eCollection 2023.

Evaluation of diaphragm functions with diaphragm ultrasound and pulmonary function tests in individuals with Friedreich's ataxia

Nur Aleyna Yetkin  1 , Mehmet Fatih Yetkin  2 , Burcu Baran Ketencioğlu  1 , Fatma Sema Oymak  1 , İnci Gülmez  1 , İnsu Yilmaz  1 , Nuri Tutar  1
Affiliations

Evaluation of diaphragm functions with diaphragm ultrasound and pulmonary function tests in individuals with Friedreich's ataxia

Nur Aleyna Yetkin et al. Turk J Med Sci. .

Abstract

Background/aim: It is known that the correlation of pulmonary function tests (PFT) with muscle dysfunction is insufficient. Here, we aimed to evaluate the diaphragm functions in individuals with Friedreich's ataxia (FRDA) and to examine its relationship with respiratory parameters and disease severity.

Materials and methods: This prospective study, conducted between November and December 2022, at Erciyes University, included 14 individuals with genetically confirmed FRDA and an age- and gender-matched healthy control group of eight individuals. We examined pulmonary functions with spirometric methods and evaluated diaphragm excursion, and diaphragm thickness-expiratory (Tde) and - end of inspiration (Tdi) with ultrasonography during calm breathing. Thickening fraction (TF) calculated. Also, we examined PaCO2 at rest. The neurological status of individuals was assessed using the Scale for the Assessment and Rating of Ataxia (SARA).

Results: The mean values of FEV1(lt), FEV1(%), FVC (lt), and FVC (%) were higher in the control group (p; <0.001, 0.013, <0.001, and 0.009, respectively). Also, mean Tdi, Tde, excursion and TF were lower in the FRDA group compared to the control group (p = 0.005, 0.294,0.005, and 0.019, respectively). The mean excursion value was 1.13 ± 0.54cm in the FRDA group and 1.71 ± 0.49cm in the control group. There is a strong, negative, and statistically significant correlation between SARA total score with excursion and TF (r = -0.7432, p = 0.002; r = -0.697, p = 0.008). There is no statistically significant relationship between excursion and BMI, standing-to-supine decrease in FVC, FEV1, and PaCO2. Also, the relationship between maximal inspiratory pressure (PImax) and excursion was moderate.

Conclusion: Diaphragm ultrasound may reveal respiratory dysfunction better than PFT. Diaphragm excursion and TF are associated with disease scores in individuals with FDRA. Further studies are needed regarding the detection of alveolar hypoventilation.

Keywords: Excursion; PImax; ataxia; diaphragm; neuromuscular disorders.

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Figures

Figure 1
Figure 1
A. Measurement of diaphragm thickness in intercostal view (between midclavicular and anterior axillary line) using B mode and curvilinear transducer with liver as acoustic window. B. Measurement of right hemidiaphragm excursion in subxiphoid view using M-mode and curvilinear transducer once regular breathing waves are established. The waves appearing in the healthy diaphragm are observed to be decreased.
Figure 2
Figure 2
Ultrasound image of the normal right hemidiaphragm in the zone of apposition.
Figure 3
Figure 3
Error bar graphs for body-mass index (BMI), excursion (cm), thickening fraction (TF) (%), and force vital capacity (FVC) (%) values between individuals with FDRA and control groups.
Figure 4
Figure 4
Box plot graph for SARA score.
Figure 5
Figure 5
Curve of total SARA score and excursion values.
Figure 6
Figure 6
Curve of disease total SARA score and TF (%) values.
See this image and copyright information in PMC

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