Muscle Function, Exercise Capacity and Physical Activity Level in Primary Ciliary Dyskinesia and Kartagener Syndrome

Study Overview
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Brief Summary
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Studies evaluating respiratory and peripheral muscle functions in PCD patients and comparing them with healthy children are limited in the literature. There is no study investigating pulmonary and extrapulmonary effects in Kartagener syndrome, which is a form of PCD. The aim of our study is to compare respiratory functions, respiratory muscle strength and endurance, exercise capacity, peripheral muscle strength, physical activity level and quality of life in patients with PCD, Kartagener syndrome and healthy children.

Detailed Description
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Primary ciliary dyskinesia (PCD) is an autosomal recessive disease characterized by abnormal ciliary movement and impaired mucociliary clearance. Kartagener syndrome is an autosomal recessive primary ciliary dyskinesia syndrome characterized by situs inversus, bronchiectasis and chronic sinusitis and is the most serious form of PCD, accounting for 50% of all PCD cases. In these syndromes, there is both movement and structural defect in the cilia, and mucociliary clearance is impaired. Symptoms usually appear in childhood. Organ anomalies can also be seen in Kartagener syndrome. Primary ciliary dyskinesia is a disease that threatens lung functions starting from preschool age. One of the main causes of respiratory muscle weakness in chronic lung diseases is worsening of lung functions. Evaluation of exercise capacity in patients with PCD has prognostic importance. Decreased exercise capacity, respiratory function, and cardiopulmonary function cause physical inactivity. In chronic lung diseases, sedentary lifestyle, airway obstruction, malnutrition and decreased exercise capacity cause muscle weakness. Muscle strength and function are important for performing activities of daily living. There is no study in the literature comparing respiratory and physical functions in children with PCD and in children with Kartagener's syndrome, which is the most serious form of PCD. The aim of our study is to compare respiratory functions, respiratory muscle strength and endurance, exercise capacity, peripheral muscle strength, physical activity level and quality of life in patients with PCD, Kartagener syndrome and healthy children. The study was planned as a cross-sectional, retrospective. Individuals aged 6-18 years, who were diagnosed with PCD and Kartagener syndrome, and received standard medical treatment, were included in the study. For the healthy group, individuals aged 6-18 years without a known chronic disease were included. Individuals' exercise capacity, respiratory functions, physical activity levels, peripheral and respiratory muscle strength, respiratory muscle endurance and quality of life will be evaluated. Exercise capacity evaluated using six-minute walk test, physical activity using multi-sensor activity monitor, pulmonary function using spirometry, respiratory muscle strength using mouth pressure device, peripheral muscle strength using hand-held dynamometer, respiratory muscle endurance using incremental threshold loading test, life quality using The Primary Ciliary Dyskinesia Quality of Life scale (Turkish version). The assessments will be completed in two days.

Official Title
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Comparison of Respiratory and Peripheral Muscle Functions, Exercise Capacity and Physical Activity Level in Primary Ciliary Dyskinesia and Kartagener Syndrome

Conditions
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Primary Ciliary Dyskinesia

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Patients; Individuals aged 6-18 years, who were diagnosed with PCD and Kartagener syndrome, and received standard medical treatment, were included in the study. Healthy controls; -Individuals between the ages of 6 and 18 without a known chronic disease will be included. Exclusion Criteria: Patients; Patients who are uncooperative, have orthopedic or neurological disorders that will affect functional capacity, and have pneumonia or any acute infection during the evaluation will be excluded from the study. Healthy controls; -Those with a known chronic disease, uncooperative and orthopedic or neurological disorders that will affect functional capacity will not be included.

Ages Eligible for Study
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Minimum Age: 6 Years
Maximum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Patients with primary ciliary dyskinesia<br>Exercise capacity assessed using six minute walk test, physical activity using multi-sensor activity monitor, pulmonary function using spirometry, respiratory muscle strength using mouth pressure device, peripheral muscle strength using hand held dynamometer, respiratory muscle endurance using incremental threshold loading test, life quality using The Primary Ciliary Dyskinesia Quality of Life scale (Turkish version). | |
| Patients with Kartagener Syndrome<br>Exercise capacity assessed using six minute walk test, physical activity using multi-sensor activity monitor, pulmonary function using spirometry, respiratory muscle strength using mouth pressure device, peripheral muscle strength using hand held dynamometer, respiratory muscle endurance using incremental threshold loading test, life quality using The Primary Ciliary Dyskinesia Quality of Life scale (Turkish version). | |
| Healthy controls<br>Exercise capacity assessed using six minute walk test, physical activity using multi-sensor activity monitor, pulmonary function using spirometry, respiratory muscle strength using mouth pressure device, peripheral muscle strength using hand held dynamometer, respiratory muscle endurance using incremental threshold loading test, life quality using The Primary Ciliary Dyskinesia Quality of Life scale (Turkish version). | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Functional exercise capacity | Functional exercise capacity will be evaluated with the 6- Minute Walk Test. 6- Minute Walk Test will be applied according to the American Thoracic Society (ATS) and European Respiratory Society (ERS) criteria. | First Day | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Physical activity (Total energy expenditure) | Physical activity was evaluated with the Multi sensor activity monitor (SenseWear®, Inc Pittsburgh, ABD). The patient wore the multisensor physical activity monitor over the triceps muscle of the non-dominant arm for 3 continuous days. The patient was informed about removing the device while taking a bath. Total energy expenditure (joule / day) was measured with the multi-sensor physical activity monitor. The parameters measured over two days were averaged and analyzed with the SenseWear® 7.0 Software program. | Second Day | 
| Physical activity (Active energy expenditure (joule / day)) | Physical activity was evaluated with the Multi sensor activity monitor (SenseWear®, Inc Pittsburgh, ABD). The patient will wear the multisensor physical activity monitor over the triceps muscle of the non-dominant arm for 3 continuous days. The patient was informed about removing the device while taking a bath. Active energy expenditure (joule / day) was measured with the multi-sensor physical activity monitor. The parameters measured over two days were averaged and analyzed with the SenseWear® 7.0 Software program. | Second Day | 
| Physical activity (Physical activity time (min / day)) | Physical activity was evaluated with the Multi sensor activity monitor (SenseWear®, Inc Pittsburgh, ABD). The patient wore the multisensor physical activity monitor over the triceps muscle of the non-dominant arm for 3 continuous days. The patient was informed about removing the device while taking a bath. Physical activity time (min / day) was measured with the multi-sensor physical activity monitor. The parameters measured over two days were averaged and analyzed with the SenseWear® 7.0 Software program. | Second Day | 
| Physical activity (Average metabolic equivalent (MET / day)) | Physical activity was evaluated with the Multi sensor activity monitor (SenseWear®, Inc Pittsburgh, ABD). The patient wore the multisensor physical activity monitor over the triceps muscle of the non-dominant arm for 3 continuous days. The patient was informed about removing the device while taking a bath. Average metabolic equivalent (MET / day) was measured with the multi-sensor physical activity monitor. The parameters measured over two days were averaged and analyzed with the SenseWear® 7.0 Software program. | Second Day | 
| Physical activity (Number of steps (steps / day)) | Physical activity was evaluated with the Multi sensor activity monitor (SenseWear®, Inc Pittsburgh, ABD). The patient wore the multisensor physical activity monitor over the triceps muscle of the non-dominant arm for 3 continuous days. The patient was informed about removing the device while taking a bath. Number of steps (steps / day) was measured with the multi-sensor physical activity monitor. The parameters measured over two days were averaged and analyzed with the SenseWear® 7.0 Software program. | Second Day | 
| Physical activity (Time spent lying down (min / day) days)) | Physical activity was evaluated with the Multi sensor activity monitor (SenseWear®, Inc Pittsburgh, ABD). The patient wore the multisensor physical activity monitor over the triceps muscle of the non-dominant arm for 3 continuous days. The patient was informed about removing the device while taking a bath. Time spent lying down (min / day) days) was measured with the multi-sensor physical activity monitor. The parameters measured over two days were averaged and analyzed with the SenseWear® 7.0 Software program. | Second Day | 
| Physical activity (Sleep time (min / day)) | Physical activity was evaluated with the Multi sensor activity monitor (SenseWear®, Inc Pittsburgh, ABD). The patient wore the multisensor physical activity monitor over the triceps muscle of the non-dominant arm for 3 continuous days. The patient was informed about removing the device while taking a bath. Sleep time (min / day) was measured with the multi-sensor physical activity monitor. The parameters measured over two days were averaged and analyzed with the SenseWear® 7.0 Software program. | Second Day | 
| Pulmonary function (Forced vital capacity (FVC)) | Pulmonary function was evaluated with the spirometry. Dynamic lung volume measurements were made according to ATS and ERS criteria. With the device, forced vital capacity (FVC) was evaluated. | First Day | 
| Pulmonary function (Forced expiratory volume in the first second (FEV1)) | Pulmonary function was evaluated with the spirometry. Dynamic lung volume measurements were made according to ATS and ERS criteria. With the device, forced expiratory volume in the first second (FEV1) was evaluated. | First Day | 
| Pulmonary function (FEV1 / FVC) | Pulmonary function was evaluated with the spirometry. Dynamic lung volume measurements were made according to ATS and ERS criteria. With the device, FEV1 / FVC was evaluated. | First Day | 
| Pulmonary function (Flow rate 25-75% of forced expiratory volume (FEF 25-75%)) | Pulmonary function was evaluated with the spirometry. Dynamic lung volume measurements were made according to ATS and ERS criteria. With the device, flow rate 25-75% of forced expiratory volume (FEF 25-75%) was evaluated. | First Day | 
| Pulmonary function (Peak flow rate (PEF)) | Pulmonary function was evaluated with the spirometry. Dynamic lung volume measurements were made according to ATS and ERS criteria. With the device, peak flow rate (PEF) was evaluated. | First Day | 
| Respiratory muscle strength | Maximal inspiratory (MIP) and maximal expiratory (MEP) pressures expressing respiratory muscle strength were measured with a portable mouth pressure measuring device according to ATS and ERS criteria. | First Day | 
| Peripheral muscle strength | Isometric peripheral muscle strength was measured with a portable hand dynamometer (JTECH Commander, USA). Measurements were repeated on the shoulder abductors and knee extensors three times on the right and left. | Second day | 
| Respiratory muscle endurance | Respiratory muscle endurance was assessed by the POWERbreathe Wellness (POWERbreathe, Inspiratory Muscle Training (IMT) Technologies Ltd., Birmingham, UK) device and the respiratory muscle endurance test at increased threshold load. The test was started with 20% of the maximal inspiratory pressure and the pressure was increased to 40%, 60%, 80% and 100% every two minutes. Patients were asked to continue breathing through the device during the test. During the test, the number of breaths delivered and the maximal time reached during each 2-minute period were recorded. If the individual could not breathe 3 consecutive times, the test was terminated by the physiotherapist. The total duration of the test and the maximum pressure value at which it continues to breathe for at least 1 minute was multiplied. The value found was recorded as the respiratory muscle endurance value. | Second Day | 
| Life quality | It was evaluated with the Turkish version of the disease-specific Primary Ciliary Dyskinesia Quality of Life scale. The questions were about physical function, emotional function, social function, respiratory symptoms, treatment burden, ear and hearing, sinus symptoms, role function, health perceptions, school functioning, eating and weight problems. | Second Day | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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primary ciliary dyskinesia, exercise capacity, muscle strength, physical activity