New genetic test could revolutionize scoliosis screening
Advances also may alter the way spine curvature is treated, experts say

By Dennis Thompson
HealthDay Reporter

(HealthDay News) -- Most everyone remembers that day in elementary school when you were asked to bend forward so the school nurse could peer down the middle of your back and take a close look at your spine.

The nurse was looking for signs of scoliosis, an abnormal curvature of the spine that affects about 7 million people in the United States , some 2 percent to 3 percent of the population, according to the National Scoliosis Foundation.

Now medical science has taken the scoliosis screening process even further, down to the genetic level. In September, a research group in Utah announced that they had discovered specific genetic markers that can predict the occurrence and severity of scoliosis.

Instead of peering down a child's back, doctors soon will be peering down a child's genetic code to see if the child's spine is apt to twist and deform.

Medical experts are hailing the breakthrough as something that could revolutionize the treatment of scoliosis. June is National Scoliosis Awareness Month.

"It will help us better treat children and adults," said Joseph O'Brien, president of the National Scoliosis Foundation. "The problem is, we don't know who's going to get scoliosis. And, when they do, we don't know how far they're going to progress. This allows us to know that and plan for it."

Most people with scoliosis are diagnosed when they're 10 to 15 years old, according to the National Scoliosis Foundation. Most cases are minor and require just monitoring by a doctor. About one of every six children diagnosed with scoliosis will end up needing some sort of treatment because of progression of the disorder. Girls are eight times more likely than boys to need treatment.

If left untreated, scoliosis can leave a person with lifelong back pain, the foundation says. It also can impact heart and lung function by causing deformity of the chest and possibly reducing the person's life span.

The most common form of treatment involves the child wearing a back brace until the skeleton has fully developed, the foundation says. The brace won't cure existing curvature, but it will keep the spine from deforming even more. If scoliosis has progressed to the point where the spine is curved more than 40 to 50 degrees, then corrective surgery to fuse the spine will be needed. However, proper use of back braces can prevent the need for surgery 90 percent of the time.

"There are things we can do to prevent deformity," O'Brien said. "At a certain point, if you don't do that, the spine will deform, and eventually surgery will be required."

Genetic testing will allow doctors to figure out which kids with scoliosis are more likely to have their disease progress to the point at which treatment will be needed, said Dr. Behrooz Akbarnia, medical director at the San Diego Center for Spinal Disorders in La Jolla, Calif., and past president of the Scoliosis Research Society.

"More noninvasive treatments can be used early on if we know there will be progressive curvature of the spine," Akbarnia said. "We can even use endoscopic surgery to slow the growth of the spine on one side to allow the other side to catch up."

Despite this breakthrough, doctors still recommend that parents have their children screened for scoliosis. The American Academy of Orthopaedic Surgeons recommends that girls be screened twice, at ages 10 and 12, and that boys be screened once between the ages of 13 and 14.

"There's a need for people to check their own children or bring them to their doctor for screening," O'Brien said. "It's really important to detect it to get proper treatment.

School-based screening programs are mandated by law in 19 states, a number that's declined in recent years, O'Brien said. Another 14 states recommend school screening but don't require it through legislation, and the rest either conduct voluntary screenings or don't allow screenings in their schools.

Some critics of screenings have said that the programs refer far too many children to doctors for what end up being minor curves of the spine. In 2004, the U.S. Preventive Service Task Force, an independent panel of medical experts that reviews the effectiveness of prevention efforts, recommended against routine screening of all children for scoliosis.

That finding has been contested by scoliosis awareness groups, who argue that it's so valuable to catch scoliosis early on that a large number of false positives are an acceptable price to pay.

But the new genetic test promises to make the argument over screening programs irrelevant. "In the future, I would predict by using the test, there wouldn't be as much screening," Akbarnia said.

On the Web

To learn more about scoliosis, visit the U.S. National Institute of Arthritis and Musculoskeletal and Skin Diseases.

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