Scoliosis refers to an abnormal curvature of the spine that develops because of a side-to-side deviation in the alignment of the spinal bones, or vertebrae. In some cases, it is associated with a twisting of the spine and chest wall deformity.
The condition is the most common bone complication seen in Rett syndrome. Approximately 25% of girls develop scoliosis by age 6 and data show that more than 85% have some form of scoliosis by age 16. The median age of scoliosis onset is 11 years.
Early signs of scoliosis include leaning sideways while standing, sitting, or walking. Scoliosis can be flexible at first, but becomes stiff and fixed with time. The degree and severity of the curvature are measured using the Cobb angle.
An unbalanced spine may make it harder to sit, stand, or walk, and can severely affect everyday activities.
Such curvatures of the spine can alter the position of vital organs in the thoracic cavity, such as the lungs. In those cases, the lungs may not get enough oxygen, which may cause shortness of breath and, in severe cases, respiratory failure.
Although the cause of scoliosis is not known in many cases, some factors can include advancing age, a birth defect, prior surgery on the chest wall, spinal injuries or infections, and certain neuromuscular conditions, such as muscular dystrophy.
People with Rett syndrome also are highly prone to weak and brittle bones, called osteoporosis, which has been deemed a risk factor for scoliosis. The risk of osteoporosis may be minimized with a diet high in calcium, and exposure to sunlight to promote vitamin D production.
Scoliosis is diagnosed following a physical examination of the spine and X-ray imaging.
A physical examination includes an assessment of growth (height/weight), spinal posture, muscle tone, and motor skills such as sitting, standing, and walking. During the exam, the patient usually is asked to lean forward at the waist 90 degrees with the feet together. The examiner, from that angle, usually can easily identify any asymmetry of the back, hips, or shoulders.
Once scoliosis is diagnosed, the patient usually is referred to an orthopedic surgeon to monitor progression. A treatment plan is determined based on its severity.
A physical examination of the spine may be required every six months. Sometimes more frequent monitoring is required in children who have not learned to walk, have low muscle tone, are experiencing a growth spurt, have developed scoliosis at a young age, or already have severe scoliosis.
After diagnosis, the main aim of scoliosis management and treatment is to maintain function by preventing the spinal curvature from getting worse.
General daily activities, in combination with physiotherapy, occupational therapy, hydrotherapy, and/or hippotherapy, or therapy using horses, can help strengthen the back muscles, promote correct posture while sitting and sleeping, and help maintain walking ability for as long as possible.
As the condition progresses, a spinal brace may be recommended to help with sitting balance and to delay the need for surgery. Some patients may find a spinal brace uncomfortable, as it can cause pressure sores or skin irritation. If it doesn’t fit properly, it can restrict breathing or exacerbate gastro-esophageal reflux disease. Generally, orthopedic surgeons and physiotherapists work together to ensure that the spinal brace is comfortable and helps correct or stall scoliosis.
In severe cases, spinal surgery may be needed to correct the abnormal curvature and prevent the condition from getting worse, ideally before it becomes very severe. Surgery usually is considered in patients older than 10, with a Cobb angle more than 40-50 degrees. Decisions on surgery are made on a case-by-case basis, and based on careful discussion between the family and surgeon.
Following surgery, patients go to an intensive care unit (ICU) to be monitored and given pain medications. Sometimes, assisted ventilation may be required right after the operation. Doctors encourage patients to undergo a mobility program as soon as possible to improve breathing, and muscle strength and function. This includes log rolling to move around in bed, sitting on the edge of the bed one day after surgery, bed-chair transfer on the next day, and walking on the third day, if possible.
Last updated: Feb. 10, 2022, by Teresa Carvalho MS
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