Upper Extremity Exercise Capacity, Muscle Oxygenation, Balance in Patients With Primary Ciliary Dyskinesia

The main aim of the study is to evaluate upper extremity exercise capacity and muscle oxygenation in patients with primary ciliary dyskinesia. The secondary aim of the study is to evaluate respiratory function, respiratory muscle strength and endurance, peripheral muscle strength, balance, physical activity level and quality of life in patients with primary ciliary dyskinesia and compare all parameters with healthy controls.

Primary ciliary dyskinesia (PCD) is a genetic, heterogeneous disease caused by cilia absence or dysfunction. Impaired function of motile cilia leads to impaired mucociliary clearance, recurrent chest infections, and progressive destruction of the lung structure. Clinical features include neonatal respiratory distress syndrome, chronic daily productive cough, chronic nasal congestion, and chronic or recurrent otitis media.

Pulmonary functions, exercise capacity, respiratory muscle strength and endurance, peripheral muscle strength, physical activity level and quality of life were affected in patients. The number of studies on these subjects is limited.

Pulmonary function and extremity muscle strength are determinants of exercise capacity in chronic obstructive pulmonary disease. Decreased strength and endurance in the limb muscles is associated with exercise intolerance. Patients have decreased upper extremity muscle strength. There is no study in the literature evaluating upper extremity exercise capacity in patients with PCD. Measuring the oxygen saturation of cardiorespiratory and peripheral muscles is important for understanding the dynamics of oxygen delivery and consumption during exercise. There are no studies in the literature evaluating muscle oxygenation in this patient population.

The main aim of the study is to evaluate upper extremity exercise capacity and muscle oxygenation in patients with primary ciliary dyskinesia. The secondary aim of the study is to evaluate respiratory function, respiratory muscle strength and endurance, peripheral muscle strength, balance, physical activity level and quality of life in patients with primary ciliary dyskinesia and compare them with healthy controls.

The study was planned cross-sectional. Patients with primary ciliary dyskinesia referred to the Cardiopulmonary Rehabilitation Unit of Gazi University Physiotherapy and Rehabilitation Department by the physicians of the Department of Pediatric Pulmonary Diseases of Gazi University Faculty of Medicine will be included in the study. At least 18 patients with primary ciliary dyskinesia and at least 18 healthy controls of similar age and sex will be evaluated in the study. The assessments will be completed in two days.

Upper extremity exercise capacity (6 minutes Pegboard and Ring Test), muscle oxygenation ("Moxy" monitor), functional exercise capacity(6 minutes walk test), respiratory functions (spirometer), respiratory muscle strength (mouth pressure measurement), respiratory muscle endurance (incremental threshold loading test), peripheral muscle strength (dynamometer), balance("Biodex Balance System®" and Y balance test), physical activity level (multi-sensor activity monitor) and quality of life (Quality of Life scale for Primary Ciliary Dyskinesia (QOL-PCD scale version 4.3) will be evaluated.

Eligibility Criteria:
Inclusion Criteria:

Patients;

* 6-18 years old
* Diagnosed with primary ciliary dyskinesia
* Stability of clinical condition

Healthy controls;

* 6-18 years old

Exclusion Criteria:

Patients;

* Diagnosed neurological, cognitive problem that can affect evaluations,
* Acute pneumonia or any infection
* History of exacerbation in the last 1 month
* More than 10% change in FEV1 in the last 6 months
* History of coronavirus disease (COVID-19)
* History of smoking
* Diagnosed vision, hearing, vestibular, or neurological problems that can affect balance
* Diagnosed orthopedic problems affecting mobility or a history of musculoskeletal surgery

Healthy controls;

* Diagnosed neurological, cognitive problem that can affect evaluations
* Diagnosed vision, hearing, vestibular, or neurological problems that can affect balance
* History of coronavirus disease (COVID-19)
* History of smoking
* Trouble understanding and following the exercise test instruction