The Effect of Spinal Orthosis on the Development of Scoliosis and Chest Deformity in Type I Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is a serious neuromuscular disease characterized by the degeneration of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle atrophy and denervation. The main problems are posture disorders, scoliosis, pelvic curvature, contracture, hip dislocation, foot and chest deformities. In this study, examining the effectiveness of trunk support used to alleviate the progression of scoliosis in children diagnosed with SMA Type I will contribute to the current literature.In addition to Individualized Trunk Exercises (ITE), Individualized Pulmonary Rehabilitation (IPR) and Chest Care (CC) Programme, the use of thoracolumbosacral spinal orthosis in Type I children will be used for the first time in our country and in the world literature. SMA. Our aim in the project is to examine the effectiveness of this treatment program on the motor functions, scoliosis Cobb angle, pelvic curvature and chest deformity of children with Type I SMA.The project is planned to be carried out with children diagnosed with Type I SMA who are followed up at Medipol Mega University Hospital Pediatric Chest Diseases Polyclinic.In evaluating the development of scoliosis as the primary outcome measure; Radiological evaluation (Cobb Angle) and examination of chest deformity; Lung X-ray (Basal Chest Wall Upper-Lower Ratio Measurement) will be used. As secondary outcome measures, the Children's Hospital of Philadelphia Infant Test for Neuromuscular Disorders and the Hammersmith Functional Motor Scale Expanded were used to assess motor functions and examine the level of motor development; In the World Health Organization Motor Development Scale body posture assessment; Supine Trunk Rotation Angle Test and Pelvic Curvature Test, pulse oximetry to assess oxygenation; In determining the level of satisfaction with orthosis use; Children/families' information will be questioned through the Quebec Assistive Technology User Satisfaction Evaluation Survey and Personal Information Form.The active control group will receive the ITE, IPR and CC program as a home program and once a week in the outpatient clinic for 8 weeks, 7 days a week, once a day, each session being 50-60 minutes. In the ITE-IPR-CC + spine orthosis group, in addition to the control group program, a thoracolumbosacral spine orthosis specially designed for the child will be used every day of the week and 8 hours a day for 8 weeks. Evaluations will be made at baseline and at week 8.

With the increase in scoliosis and scoliosis-related symptoms after increased survival in patients with Type I SMA, the need for physiotherapy applications has become more important than ever (Trenkle, et al., 2021; Mercuri, et al., 2018). The presence of scoliosis significantly affects lung capacity, postural control, functionality and quality of life in patients with Type I SMA. For this reason, it is of great importance to treat these patients in a timely and effective manner. There is no consensus on the type of spinal orthosis and application protocol to be used in patients with SMA (Mercuri, et al., 2018). When the literature was examined, no study was found about the effect of spinal orthosis use on scoliosis and chest deformity in Type I SMA patients.

Eligibility Criteria:
Inclusion Criteria:

* 2-6 years old,
* Clinically and genetically diagnosed as Type I SMA,
* Having scoliosis (20-40 Cobb angle),
* Children who have not had any previous spinal surgery,
* Children who have received or continue to receive their medical treatments (nusinersen and onasemnogene abeparvovec).

Exclusion Criteria:

* Having acute respiratory failure and/or serious airway infections,
* 24-hour mechanical ventilation dependency,
* Continuing medical treatment in intensive care,
* Having other orthopedic and neurological problems,
* Children of parents who did not agree to participate in the study,
* Children whose chest expansion and/or oxygenation are at risk of being affected and who cannot tolerate the orthosis,
* Children and their parents who do not use the thoracolumbosacral spinal orthosis in accordance with the study protocol and do not comply with trunk exercises, pulmonary rehabilitation and pulmonary care practices.