Primary Ciliary Dyskinesia
Conditions
Keywords
Primary Ciliary Dyskinesia, Upper Extremity Exercise Capacity, Muscle Oxygenation, Balance, Physical Activity
Brief summary
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.
Detailed description
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.
Interventions
None listed
Sponsors
Gazi University
Study design
Observational model
CASE_CONTROL
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
6 Years to 18 Years
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Upper extremity exercise capacity | First Day | Upper extremity exercise capacity will be evaluated with the six-minute pegboard and ring test (6-PBRT). A pegboard with two upper and lower bars set at participants shoulder level and above the shoulder level will used. Ten rings will placed on both the lower bars. Patients will be asked to move a single ring at a time with both hands from the lower bars to the upper. The score is the total number of rings moved the six-minute period. |
| Muscle Oxygenation | First Day | Muscle oxygenation assessment will be performed using the Moxy monitor (Moxy, Fortiori Design LLC, Minnesota, USA). The device will be placed on the 1/3 lower motor point of the quadriceps muscle group of the dominant leg and on the dominant arm deltoid muscle. A minimum of 3 minutes will be waited until the resting measurements and skeletal muscle oxygenation (StO2) signal stabilize. The measurements will be repeated during six minute walking test and six minute pegboard and ring test. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Balance | Second day | Static balance assessment will be evaluated using the Biodex Balance System®. The test period will be 20 seconds, and there will be a 10-second break between evaluations. General stability index, anterior / posterior (AP) stability index, medial / lateral (ML) stability index and their standard deviations will be obtained from the system as a result of the test. The tests will first be carried out on the hard ground with open eyes. The tests will second be carried out on the hard ground with closed eyes. The tests will third be carried out on the soft ground with open eyes. Dynamic balance will be evaluated with the Y balance test. |
| Physical activity (Total energy expenditure) | Second day | Physical activity will be 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 parameters measured over two days will be averaged and analyzed with the SenseWear® 7.0 Software program. |
| Physical activity (Active energy expenditure (joule / day) | Second day | Physical activity will be 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 parameters measured over two days will be averaged and analyzed with the SenseWear® 7.0 Software program. |
| Physical activity (Physical activity time (min / day) | Second Day | Physical activity will be 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 parameters measured over two days will be averaged and analyzed with the SenseWear® 7.0 Software program. |
| Physical activity (Average metabolic equivalent (MET / day) | Second Day | Physical activity will be 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 parameters measured over two days will be averaged and analyzed with the SenseWear® 7.0 Software program. |
| Pulmonary function (Forced expiratory volume in the first second (FEV1)) | First Day | Pulmonary function will be evaluated using the spirometry, according to American Thoracic Society and European Respiratory Society criteria. Forced expiratory volume in the first second (FEV1) will be measured. |
| Physical activity (Number of steps (steps / day) | Second Day | Physical activity will be 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 parameters measured over two days will be averaged and analyzed with the SenseWear® 7.0 Software program. |
| Functional exercise capacity | First Day | Functional exercise capacity will be evaluated with 6-minute walking test according to the American Thoracic Society and European Respiratory Society criteria. |
| Physical activity (Sleep time (min / day) | Second Day | Physical activity will be 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 parameters measured over two days will be averaged and analyzed with the SenseWear® 7.0 Software program. |
| Respiratory muscle strength | First day | Maximal inspiratory (MIP) and maximal expiratory (MEP) pressures expressing respiratory muscle strength will be measured with a portable mouth pressure measuring device according to American Thoracic Society and European Respiratory Society criteria. |
| Respiratory muscle endurance | Second Day | Respiratory muscle endurance will be 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 will be started with 20% of the maximal inspiratory pressure and the pressure will be increased to 40%, 60%, 80% and 100% every two minutes. Patients will be asked to continue breathing through the device during the test. If the individual cannot breathe 3 consecutive times, the test will be terminated by the physiotherapist. During the test, the number of breaths delivered and the maximal time reached during each 2-minute period will be recorded.The total duration of the test and the maximum pressure value at which it continues to breathe for at least 1 minute will be multiplied. The value found will be recorded as the respiratory muscle endurance value. |
| Pulmonary function (Forced vital capacity (FVC)) | First Day | Pulmonary function will be evaluated using the spirometry, according to American Thoracic Society and European Respiratory Society criteria. Forced vital capacity (FVC) will be measured. |
| Pulmonary function (Flow rate 25-75% of forced expiratory volume (FEF 25-75%)) | First Day | Pulmonary function will be evaluated using the spirometry, according to American Thoracic Society and European Respiratory Society criteria. Flow rate 25-75% of forced expiratory volume (FEF 25-75%) will be measured. |
| Pulmonary function (Peak flow rate (PEF)) | First Day | Pulmonary function will be evaluated using the spirometry, according to American Thoracic Society and European Respiratory Society criteria. Peak flow rate (PEF) will be measured. |
| Life quality | Second day | Quality of life will be evaluated with the Quality of Life scale for Primary Ciliary Dyskinesia (QOL-PCD scale version 4.3)(Turkish version). The scale have well-established reliability and validity. There are four separate versions of QOL-PCD for three separate age-appropriate.The scale includes questions about physical function, emotional function, social function, respiratory symptoms, treatment burden, hearing symptoms, role, health perceptions, vitality, eating and weight. The scale included sub-groups involving different situations according to the different ages. The total numbers of items in the scale are 37 in the questionnaire for children, 43 in the one for adolescents, 49 in the one for adults, 41 in the parents of the patients in the age group of 6-12 years. Items are rated according to a 4-point scale. Higher scores indicate better quality of life. |
| Physical activity (Time spent lying down (min / day) days) | Second Day | Physical activity will be 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 parameters measured over two days will be averaged and analyzed with the SenseWear® 7.0 Software program. |
| Pulmonary function (FEV1 / FVC) | First Day | Pulmonary function will be evaluated using the spirometry, according to American Thoracic Society and European Respiratory Society criteria. FEV1 / FVC will be measured. |
Countries
Turkey (Türkiye)
Outcome results
None listed