Two Different Treatment Modalities in Patients With Spinal Muscular Atrophy

Spinal Muscular Atrophy (SMA) is a severe neuromuscular disorder characterized by the degeneration of alpha motor neurons in the spinal cord, resulting in progressive muscle atrophy and weakness, particularly in proximal and axial muscles. SMA causes respiratory muscle weakness, recurrent infections, and nocturnal hypoventilation, contributing significantly to morbidity and mortality. Children with SMA often display respiratory and trunk muscle weakness compared to healthy controls. Our project aims to investigate the impact of pulmonary rehabilitation, including inspiratory muscle training, along with trunk control exercises in children with SMA. The study will include 40 SMA patients aged 5-18, with maximum inspiratory capacity below 60 centimeters of water (cmH2O), and the ability to sit unsupported for more than 5 seconds. The participants will be randomly assigned to two groups: Pulmonary Rehabilitation Group (Group 1, n=20) and Trunk Control Training Group (Group 2, n=20). Group 1 will undergo breathing exercises and inspiratory muscle training (IMT), involving diaphragmatic, pursed-lip, and segmental breathing. IMT will be administered with a portable device, starting at appropriate resistance and consisting of 10 cycles, 10 minutes each, once a day, with designated rest intervals. Also applied by calculating 30% of the maximal inspiratory pressure (MIP). During weekly clinic visits, the MIP value will be recalculated and the current threshold pressure value will be determined. In Group 2, alongside pulmonary rehabilitation, children will engage in trunk control exercises, progressively increasing in difficulty, focusing on pelvic control, proximal stabilization, and strengthening trunk and gluteal muscles. All interventions will be performed in front of a mirror. At the end of the 8-week intervention, MIP and Maximal Expiratory Pressure (MEP) will be used to measure respiratory muscle performance, spirometry will be used to monitor lung volume changes, and Peak Cough Flow will be used to evaluate the effectiveness of cough. The Trunk Control Measurement Scale, the Revised Upper Extremity Module, and the Children's Quality of Life Scale will assess trunk control, upper extremity functions, and quality of life, respectively. The Hammersmith Functional Motor Scale will assess gross motor functions and the Zarit Caregiver Burden Scale will inquire about familial factors affecting the child.

Spinal Muscular Atrophy (SMA) is a severe neuromuscular disease characterized by degenerating alpha motor neurons in the spinal cord, resulting in progressive and predominantly proximal and axial muscle atrophy and weakness. Its incidence is 1 in 6000 or 10000 live births. The severity of the disease is highly variable. It causes respiratory muscle weakness, recurrent respiratory tract infections, and impaired cough with nocturnal hypoventilation in children with SMA, and is one of the leading causes of morbidity and mortality. In addition to respiratory muscle weakness, children with SMA exhibit less trunk and neck muscle activity compared to healthy controls. The aim of our project is to examine the effects of pulmonary rehabilitation practices and trunk control training combined with pulmonary rehabilitation on respiratory parameters in children with SMA. Forty SMA patients aged 5-18 years, with a maximal inspiratory capacity of less than 60 centimeters of water (cmH2O), and who can sit without support for more than 5 seconds will be included in the project. Children with SMA will be randomly divided into 2 groups. Group 1 will be the Pulmonary Rehabilitation Group (n=20), and Group 2 will be the Trunk Control Training Group (n=20). Children in group 1 will receive breathing exercises and inspiratory muscle training interventions. Breathing exercises will consist of diaphragmatic breathing to increase the efficiency of inspiration and pursed lip breathing to improve oxygenation by increasing ventilation. In addition, during segmental breathing, pressure applied by hand or with the help of a belt will provide proprioception and better expansion of the relevant regions. Inspiratory muscle training will be performed with the help of a portable device. The inspiratory muscle training program will begin at appropriate resistance and consist of a total of 10 cycles once a day, 10 minutes each with one-minute pauses in between, with 20-second pauses in between. During the pulmonary exercises, the oxygen levels of the children will be monitored with a pulse oximeter device attached to the participants' toes. In addition to pulmonary rehabilitation, the children in group 2 will perform trunk control exercises of increasing difficulty, which use a combination of exercises and activities for pelvic control and proximal stabilization, and trunk and gluteal muscle strengthening exercises. All interventions will be performed in front of the mirror. Children's fatigue levels will be determined according to the perceived exertion level. The intervention of both groups will last 8 weeks. Evaluation parameters will be applied before interventions begin and at the end of 8 weeks. Respiratory performance and respiratory muscle strength, which are among the primary measurement parameters, are measured by Maximal Inspiratory Pressure and Maximal Expiratory Pressure; lung capacities will be evaluated by using a spirometer device where pulmonary function tests are applied, and the effectiveness of cough will be evaluated by measuring the Peak Cough Flow value. Trunk Control Measurement Scale in the evaluation of trunk control; Revised Upper Extremity Module for evaluation of upper extremity functions. In the examination of changes in lung volumes, a data record will be created using chest radiography. Hammersmith Functional Motor Scale in the evaluation of gross motor functions; The Children's Quality of Life Scale will be used to evaluate the quality of life of the cases; familial factors affecting children will be questioned with the Zarit Caregiver Burden Scale.

Eligibility Criteria:
Inclusion Criteria:

* Those with genetic documentation of 5q spinal muscular atrophy (SMA) homozygous gene deletion, mutation, or compound heterozygote and who have been clinically diagnosed with SMA,
* Those between the ages of 5-18,
* Maximum inspiratory capacity is less than 60 cmH2O,
* Children who can sit unsupported for at least 5 seconds and who have no or 3 weeks of acute reversible events affecting the upper respiratory tract.

Exclusion Criteria:

* Having had upper extremity and spine surgery,
* Having other orthopedic and neurological problems,
* Having cognitive impairments that may prevent understanding simple verbal commands,
* Having visual or auditory disabilities,
* Premature birth