The Effect of Spinal Orthosis on the Development of Scoliosis and Chest Deformity in Type I Spinal Muscular Atrophy
Study Details
Study Description
Brief Summary
Spinal muscular atrophy (SMA) is a serious neuromuscular disease characterized by degeneration of alpha motor neurons in the spinal cord resulting in progressive proximal muscle atrophy and denervation. Its global incidence is 1/6,000-1/10,000 live births and the carrier frequency in the general population is around 1/40-1/60. The severity of SMA is highly variable and is classified into five phenotypes (0-IV) based on clinical features, age at onset, maximum motor function achieved, and life expectancy. The most common symptoms in Type I SMA, which especially affects newborn babies, are weak muscle tone/hypotonia, progressive symmetrical, proximal muscle and bulbar muscle weakness.
With the drug applications and gene therapies developed today, motor and respiratory functions are improved in patients with Type I SMA. This favorable prognosis makes it important to treat orthopedic problems that may occur at later ages. The main causes of these problems are posture disorder, scoliosis, pelvic curvature, hip dislocation, and foot and chest deformities.
Scoliosis in children with Type I and II SMA occurs in early childhood and its incidence is 60-90%. Spinal deformity is often accompanied by chest deformity and pelvic curvature. These musculoskeletal disorders can affect the daily functioning of patients with SMA. Scoliosis and its associated thoracic distortion cause significant deterioration in lung function by reducing vital capacity and increasing ventilation/perfusion imbalance. Therefore, a spine evaluation should be performed as part of a routine clinical examination. Treatment with spinal orthoses is advocated to support the hypotonic body and to treat scoliosis above 20 degrees, especially in patients who continue to grow.
In addition to the Individualized Pulmonary Rehabilitation (IPR) and Pulmonary Care (PC) Program in children with Type I SMA, the use of a thoracolumbosacral spinal orthosis will be implemented for the first time in our country and in the world literature. Our aim in the project is to examine the effectiveness of this treatment program on motor functions, scoliosis Cobb angles, pelvic curvature and chest deformity in children with Type I SMA.
The project is planned to be carried out with children diagnosed with Type I SMA, followed in the Pediatric Chest Diseases Polyclinic of Medipol Mega University Hospital.
In the evaluation of scoliosis development as primary outcome criteria; in the examination of Radiological Evaluation (Cobb Angle) and chest deformity; Basal Chest Wall Upper-Lower Ratio Measurement will be used. As secondary outcome measures, the Philadelphia Children's Hospital Infant Test of Neuromuscular Disorders (CHOP-INTEND) and Hammersmith Extended Functional Motor Scale (HFMSE) were used to evaluate motor development level; the World Health Organization Motor Development Scale (WHO Developmental Milestones), body posture assessment; Supine Trunk Rotation Angle Test and Pelvic Test were used to determine the satisfaction level of orthosis use; the Quebec Assistive Technology User Satisfaction Assessment Questionnaire (QUEST) and information of children/families will be questioned with the Personal Information Form.
The active control group will receive a IPR and PC program in the outpatient clinic once a week for 8 weeks, 7 days a week, once a day, 40-60 minutes per session, for 8 weeks. In the IPR-PC + spinal orthosis group, in addition to the control group program, a thoracolumbosacral spinal orthosis (TLSO) designed specifically for the child will be used for 8 hours a day for 8 weeks, every day of the week. Evaluations will be made at baseline and at week 8.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
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N/A |
Detailed Description
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.
Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| Experimental: Pulmonary Rehabilitation (PR) and Pulmonary Care (PC) Program + Spinal Orthosis Group
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Device: Thoracolumbosacral Spinal Orthosis (TLSO)
In the PR-PC + spinal orthosis group, in addition to the control group program, a thoracolumbosacral spinal orthosis (TLSO) designed specifically for the child will be used for 8 hours a day for 8 weeks, every day of the week.
Other Names:
Other: Pulmonary Rehabilitation(PR) and Pulmonary Care (PC)
The active control group will receive a PR and PC program in the outpatient clinic once a week for 8 weeks, 7 days a week, once a day, 40-60 minutes per session, for 8 weeks.
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| Active Comparator: Pulmonary Rehabilitation (PR) and Pulmonary Care (PC) Program Group
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Other: Pulmonary Rehabilitation(PR) and Pulmonary Care (PC)
The active control group will receive a PR and PC program in the outpatient clinic once a week for 8 weeks, 7 days a week, once a day, 40-60 minutes per session, for 8 weeks.
|
Outcome Measures
Primary Outcome Measures
- Radiological Evaluation (Cobb Angle) [8 week]
The presence of scoliosis will initially be evaluated clinically using spinal x-rays. The Cobb angle will be used as a measure of scoliosis progression. If possible, radiological evaluation will be performed in the assisted sitting position without providing sitting balance, if it is difficult to take X-rays in the sitting position, in the supine position. Two images will be obtained, anteroposterior and lateral. The location of scoliosis will be classified as thoracic, thoracolumbar and lumbar. Scoliosis direction will be recorded as right and left. In the case of S-shaped scoliosis, the angle used for assessment will be the highest degree.
- Basal Chest Wall Upper-Lower Ratio Measurement [8 week]
Anteroposterior view of the chest X-ray taken in the supine position will be used. A perpendicular line will be drawn connecting the spinous processes to the horizontal lines drawn from the inner edge of the rib. The longest line of the 2nd rib (Dupper) and 9th rib (Dlower) will be measured. The percentage ratio of upper/lower chest wall will be calculated as D(upper) / D(lower )×100(%).
Secondary Outcome Measures
- Philadelphia Children's Hospital Infant Test of Neuromuscular Disorders (CHOP-INTEND) [8 week]
Philadelphia Children's Hospital Infant Test for Neuromuscular Disorders (CHOP-INTEND) will be used to evaluate motor functions. The CHOP INTEND is a functional scale that has been shown to reliably assess motor function in patients with infancy-onset Type I SMA and other neuromuscular disorders. The development of the scale is based on the natural history of motor function progression for infants with Type I SMA. The test contains 16 items that provide information on muscle strength and function, gravity eliminated, gravity assisted, and antigravity. Items are ranked from easy to difficult, with the least tolerated items being tested last. Scoring: rated from 0 (no response) to 4 (complete response). The maximum score is 64. Application time: It can be completed in 15-40 minutes. Equipment: mat, rattle, plush toy, toy phone.
- Hammersmith Extended Functional Motor Scale (HFMSE) [8 week]
Hammersmith Functional Motor Scale Extended Version (HFMSE) will be used to evaluate motor functions. The HFMSE test consists of 33 items in which movements such as sitting, rolling in the supine position, raising the head in the lying position, standing up, kneeling, standing and stepping, jumping, and climbing stairs are scored. Each item is evaluated on a scoring system with 2 points for "can do without support", 1 point for "can do with support" and 0 points for "can't". The scores of all items are summed, the total score ranges from 0 to 66, and a higher score means better motor functions.
- World Health Organization Motor Development Scale (WHO Developmental Milestones) [8 week]
With the World Health Organization Motor Development Scale, 6 different gross motor levels will be evaluated as unsupported sitting, hand-knee crawling, assisted standing, assisted walking, standing alone and walking alone.
- Supine Trunk Rotation Angle Test [8 week]
Chest deformity will be measured using a scoliometer (Basic Economics). The patient will be in the supine position with the head symmetrical. Scoliometer, 2nd-3rd in the upper part of the sternum. it will be located along the chest at the level of the rib (SATR upper) and below the sternum, where the corpus meets the xiphoid process of the sternum (SATR lower).
- Pelvic Tilt Test [8 week]
Pelvic tilt measurement will be made using a scoliometer (Basic Economics) placed at the posterior superior iliac spines in a modified sitting position with supported upper and lower extremities.
- Quebec Assistive Technology User Satisfaction Assessment Questionnaire (QUEST) [8 week]
The Quebec Assistive Technology User Satisfaction Assessment Questionnaire (QUEST) will be used to assess spinal orthosis satisfaction. Since the patients are in childhood, the questionnaire will be filled in by their parents. Interviews will be conducted face to face. Responses are scored on a 5-point Likert scale for satisfaction (1=very dissatisfied and 5=very satisfied). The QUEST questionnaire has 3 points; these are device satisfaction, service satisfaction and total score. Satisfaction defined in the questionnaire is the individual's critical evaluation of the technological device. The individual's expectations, perception, attitude and personal characteristics affect this evaluation. The QUEST questionnaire contains 12 items questioning the satisfaction of the assistive device (8 items) and the service (4 items). At the end of the questionnaire, individuals/parents are asked to select and mark 3 of the 12 items as important.
Other Outcome Measures
- Personal Information Form [Baseline]
With the personal information form, the age, gender, weight, height, type of diagnosis, age of diagnosis, type of delivery, auxiliary equipment (orthotics, body support, mobility aids; wheelchair, walker, etc.) and drug use of the patients will be recorded. The age, education level, marital status, number of births, economic status, social security and number of people living in the household will also be noted.
Eligibility Criteria
Criteria
Inclusion Criteria:
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0-7 years old,
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Clinically and genetically diagnosed as Type I SMA,
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Having scoliosis (15-50 Cobb angle),
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Children who have not had any previous spinal surgery.
Exclusion Criteria:
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Having acute respiratory failure and/or serious airway infections,
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24-hour mechanical ventilation dependency,
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Continuing medical treatment in intensive care,
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Having other orthopedic and neurological problems,
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Children of parents who did not agree to participate in the study,
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Children and their parents who do not use the thoracolumbosacral spinal orthosis in accordance with the study protocol and do not comply with pulmonary rehabilitation and pulmonary care practices.
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Istanbul Medipol University | Istanbul | Turkey | 34000 |
Sponsors and Collaborators
- Medipol University
Investigators
- Principal Investigator: Emre Dansuk, MSc, Medipol University
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- E-10840098-772.02-200