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 (vertebrae). Sometimes, scoliosis may be associated with the twisting of the spine or chest wall deformity.

Scoliosis is the most common orthopedic complication seen in Rett syndrome. Approximately 25 percent of patients develop scoliosis by age 6 and nearly 85 percent have some form of scoliosis by age 16. The median age of scoliosis onset is 11.

Signs of scoliosis

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, which is the gold standard for assessing scoliosis.

Causes of scoliosis

Scoliosis develops because of altered muscle strength and tone. Research has shown that increasing age, puberty, and specific mutations may determine the occurrence and progression rate of scoliosis.

Patients with Rett syndrome also arevhighly prone to osteoporosis (porous or weak and brittle bones), which can make scoliosis worse.

How scoliosis affects Rett syndrome patients

An unbalanced spine may make it harder to sit, stand, or walk. It can be very painful and severely affect everyday activities. Scoliosis also can increase susceptibility to respiratory infections. Large curvatures of the spine can alter the position of vital organs in the chest and abdomen.

Diagnosis

Scoliosis is diagnosed by a doctor following a spinal assessment and X-ray imaging.

Once scoliosis is diagnosed, the patient usually is referred to an orthopedic surgeon to assess and monitor progression. The optimal treatment strategy is then determined based on the degree of scoliosis.

A physical examination of the spine may be required every six months. Sometimes more frequent monitoring is required in children who never learned to walk, have low muscle tone, are experiencing a growth spurt, have developed scoliosis at a young age, or already have very severe scoliosis.

Physical examination includes assessment of growth (height/weight), spinal posture, muscle tone, and motor skills such as sitting, standing, and walking.

Management and treatment

After diagnosis, the main aim of scoliosis management and treatment is to maintain maximum function by preventing further progression of the spinal curvature.

General daily activities, in combination with physiotherapy, occupational therapy, hydrotherapy, and/or hippotherapy (therapy by horse riding) can help strengthen the back muscles, promote correct posture while sitting and sleeping, and help maintain walking ability for as long as possible

As scoliosis progresses, a spinal brace may be recommended to help with sitting balance and delay the need for surgery. For some patients, a spinal brace can be discomforting and cause pressure sores or skin irritation. If it does not fit properly, it can restrict breathing or exacerbate gastro-oesophageal reflux disease (GERD). Generally, a team of 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 further development of scoliosis. Ideally, surgery should be done before scoliosis becomes very severe. It usually is considered in patients ages, older than 10, with a Cobb angle more than 40-50 degrees. The decision of whether to proceed with surgery is made on a case-by-case basis and based on careful discussion between the family and surgeon.

Following surgery, monitoring and administration of pain medications often occurs in the intensive care unit (ICU). Sometimes, assisted ventilation may be required immediately after the operation. A mobility program is encouraged 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 two days after surgery, and walking three days after surgery, where possible.

Other details

Since osteoporosis has a negative effect on scoliosis, it can be minimized with a diet high in calcium and exposure to sunlight to promote the production of vitamin D.

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