Two Different Treatment Modalities in Patients With Spinal Muscular Atrophy

Inspiratory Muscle Strength will be assessed by the Maximal Inspiratory Pressure (MIP). For MIP measurement, participants will be asked to perform maximum inspiration starting from the residual lung volume following maximum expiration to the total lung capacity.

Expiratory Muscle Strength will be assessed by the Maximal Expiratory Pressure (MEP). For MEP measurement, participants will be asked to exert maximum expiratory effort from total lung capacity to residual volume. Pressure thresholds sustained for at least 1 second will be recorded. The highest pressure value of these maneuvers, expressed in cmH2O, will be recorded.

Participants will be in a sitting position during spirometric measurement in accordance with the standards and recommendations of the American Thoracic Society and European Respiratory Society statement. Forced vital capacity (FVC), volume of air exhaled in the 1st second of forced expiration (FEV1), FEV1/FVC ratio, peak expiratory flow (PEF) values of the participants will be measured through spirometric (Spirobank MIR, Italy) measurement. At least three successful spirometric assessments will be recorded. FVC is the volume of air exhaled rapidly and forcefully following deep inspiration. PEF value is measured by maximum inspiration followed by maximum expiration. It usually correlates with FEV1 measurements. In the interpretation of spirometric tests, information can be obtained about the type and severity of respiratory dysfunction by looking at the shape and numerical parameters of the flow-volume and time curve.

The effectiveness of the cough will be evaluated with a Peak Flow meter. This value provides us with information about the expiratory muscles. To evaluate the ability to cough without assistance, the patient is asked to cough as hard as possible into a small handheld device called a peak flow meter (ExpiritePeak Flow Meter DL-F03) while in a sitting position. This measured value is called peak cough flow (PCF). These values will provide an indication of the patient's disease progression, ability to clear secretions, and risk of developing respiratory complications. PCF is applied to children over the age of 4-8. The expected value in healthy individuals is PCF ≥ 360 L/minute. The fact that this value is 270 L/minute in children with DMD, another neuromuscular muscle disease, shows that participants have adequate cough. A PCF value falling below 160 L/minute indicates inadequate airway clearance. Absolute values will be determined by selecting the largest of three consecutive trials.

Trunk Control will be assessed by Trunk Control Measurement Scale. Children's trunk control levels will first be determined according to the Trunk Control Measurement Scale (TCMS), which was developed for children with cerebral palsy. The TCMS consists of 15 items that evaluate 2 different parameters related to trunk control; One of the parameters is static sitting balance and the other is dynamic sitting balance. It evaluates not only trunk control but also trunk compensation during limb movements. Within dynamic sitting balance, balance parameters in reaching and reaching are also evaluated. Total scores range from 0 to 58, with higher scores indicating good trunk control.

Upper Extremity Functions will be assessed by Revised Upper Limb Module for Spinal Muscular Atrophy. The revised upper extremity module for SMA contains 19 items and is evaluated out of a total of 37 points. The first item is not included in the scoring, and the remaining 18 items are evaluated between 0-2 points, except for item I, and only item I is evaluated between 0-1 points. The module is calculated on a total of 37 points, higher scores indicate better upper extremity function.

Gross Motor Function levels will ve assessed by the Hammersmith Functional Motor Scale. It measures the motor function changes of children with SMA who can and cannot walk. It consists of 33 items that indicate the capacity to perform motor functions such as sitting on a chair without support, lying face down or rolling over, lifting the head from the prone position, and crawling. Each activity, categorized into items, is scored on a 3-point system with 2 points for "performs without modification", 1 point for "performs with modification/adaptation/compensation" and 0 points for "cannot perform the task". The maximum score on the scale is 66, and a higher score means better motor functions.

In evaluating the quality of life of patients with SMA; Pediatric Quality of Life Questionary-Generic Core (PedsQL-GC) will be used. It questions the areas of physical health, emotional functionality, and social functionality, which are the characteristics of the state of health defined by the World Health Organization. Items are scored between 0-100. If the answer to the question is marked as never, it receives 0=100, if it is marked as rarely, it receives 1=75, if it is marked as sometimes, it receives 2=50, if it is marked as often, it receives 3=25, and if it is marked as almost always, it receives 4=0 points. The total score is obtained by adding the points and dividing by the number of items completed. If more than 50% of the scale is not filled out, the scale is not evaluated. The higher the total score, the better the health-related quality of life is perceived.

Caregiver burden score will be evaluated by the Zarit Caregiver Burden Interview. It was developed by Zarit, Reever and Bach-Peterson in 1980. It is a scale used to evaluate the distress experienced by caregivers of individuals in need of care. The scale, which can be completed by asking the caregivers themselves or the researcher, consists of 19 statements that determine the impact of caregiving on the individual's life. The scale has a Likert-type rating ranging from 1 to 5, such as never, rarely, sometimes, often or almost always. A high scale score indicates that the distress experienced is high.