Spit Determines Scoliosis Risk - NewsChannel5.com | Nashville News, Weather & Sports

Spit Determines Scoliosis Risk

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BOSTON (Ivanhoe Newswire) - More than half a million visits are made to doctors' offices each year to evaluate and treat spine curvatures. Most common in adolescents between ten and 15, scoliosis can mean excruciating pain or death. Now, there's a way to help doctors figure out a patient's risk without guessing or over-testing.

Alyssa Smith loves staying active.

"I like doing dives and jumps and flips," Alyssa Smith said.

But scoliosis could threaten that.

"She was fine last year. And then she had a physical this year and she was at 20 degrees, 21 degrees," Alyssa's mother, Andrea Smith, told Ivanhoe.

And it could get worse. It did for her mom, Andrea.

"When I hit my growth spurt at 13, the curve excelled, it went just over 70 degrees," Andrea said.

Andrea's curve looked much like this. At 13, she had surgery to fix it.

Now a saliva test is being used to predict how severe Alyssa's curve will be.

"If that risk is very high, like it was with her mothers, we may be able to use novel treatments or start earlier bracing to prevent her progression to surgery; and we didn't have that information before," Dr. Suken A. Shah from Nemours Alfred I. DuPont Hospital for Children in Wilmington, DE, said.

It's called Scoliscore. Doctor Suken Shah says it's more than 98percent accurate. The test uses DNA from saliva to determine scoliosis risk.

"It eliminates all the inefficiency in medical care that we currently have: over-treatment, over x-ray, bringing down the cost of medicine, to those patients that actually need it," Dr. Shah said.

No matter what the result, Alyssa says she'll get through it.

"Just keep strong and don't worry about it," Alyssa said.

Scoliscore screens for 53 genetic markers to determine risk. Doctors know the test works for the genetic markers in Caucasian children, but a test for Asian and African American children is being developed.

RESEARCH SUMMARY

BACKGROUND: Scoliosis is a sideways curvature of the spine that occurs most often during the growth spurt just before puberty. While scoliosis can be caused by conditions such as cerebral palsy and muscular dystrophy, the cause of most scoliosis is unknown. Most cases of scoliosis are mild, but some children develop spine deformities that continue to get more severe as they grow. Severe scoliosis can be disabling. An especially severe spinal curve can reduce the amount of space within the chest, making it difficult for the lungs to function properly. Children who have mild scoliosis are monitored closely, usually with X-rays, to see if the curve is getting worse. In many cases, no treatment is necessary. Some children will need to wear a brace to stop the curve from worsening. Others may need surgery to keep the scoliosis from worsening and to straighten severe cases of scoliosis. (Source: Mayo Clinic)

SIGNS: Signs and symptoms of scoliosis may include uneven shoulders, one shoulder blade that appears more prominent than the other, uneven waist, one hip higher than the other. If a scoliosis curve gets worse, the spine will also rotate or twist, in addition to curving side to side. This causes the ribs on one side of the body to stick out farther than on the other side. Severe scoliosis can cause back pain and difficulty breathing. (Source: Mayo Clinic)

DIAGNOSIS: The doctor will initially take a detailed medical history and may ask questions about recent growth. During the physical exam, your doctor may have you stand and then bend forward from the waist, with arms hanging loosely, to see if one side of the rib cage is more prominent than the other. Your doctor may also perform a neurological exam to check for muscle weakness, numbness, and abnormal reflexes. Plain X-rays can confirm the diagnosis of scoliosis and reveal the severity of the spinal curvature. If a doctor suspects that an underlying condition — such as a tumor — is causing the scoliosis, he or she may recommend additional imaging tests, including magnetic resonance imaging (MRI), computerized tomography (CT), or a bone scan. (Source: Mayo Clinic)

NEW TECHNOLOGY: Until now, there was no way to predict how bad the scoliosis could get. Dr. Suken Shah at A.I. duPont Hospital for Children says there's now a quick and easy way to better predict the future of scoliosis patients. It's a saliva based DNA scoliosis test called SCOLISCORE. The SCOLISCORE Test is performed by collecting a saliva sample during a physician's office visit. The sample is then sent to a laboratory for analysis. Within two to three weeks of the laboratory receiving the sample, the SCOLISCORE Test report form will be sent to your child's physician. The SCOLISCORE Test assigns a numerical value (between 1 and 200) to the likelihood of curve progression based on your child's DNA and current Cobb angle. The physician can then use this information, combined with other clinical factors, to determine a personalized treatment plan for your child. Scores 1-50 means that there's a 99 percent chance of the spinal curve not progressing to a severe curve. (Source: Scoliscore.com)

INTERVIEW

Dr. Suken A. Shah from the Nemours Alfred I. DuPont Hospital for Children Spine and Scoliosis Center talks about a saliva test called Scoliscore and how it may help to determine a patient's risk for developing severe scoliosis

Can you tell me about the Scoliscore?

Dr. Shah: The way it was constructed was we, along with maybe 30 or 40 centers around the country, were soliciting patients' DNA, especially ones that had progressive scoliosis because we know it is a genetic disease. Having a severe curve is even more of a genetic issue, those people are very closely related to each other and there must be a common genetic factor at work. There are also some environmental factors, but this test is able to determine specifically if have a low risk for progression to a severe curve. If we are seeing people with small curves, their families are very anxious about the diagnosis of scoliosis, and they are anxious about having multiple follow ups and multiple x-rays. If this test shows a low risk for progression of their condition, we do not have to see them as often. They do not need to take time off from work and leave school and get x-rayed just for us to keep telling them that their curve is not changing. This test sort of takes the blinders off of all of that and we can concentrate on the patients that actually need us the most; people with progressive curves and people who are going to have some difficulties in the future if their curve changes.

It is 95percent accurate?

Dr. Shah: its negative predictive value is 99 percent, meaning if you test low risk you have a 99 percent chance of not progressing to a severe curve. As far as accuracy goes, it is more accurate than any genetic test on the market. When you think about the breast cancer gene test and neurofibromatosis, they are about 50 percent to 60 percent accurate. So, from an accuracy standpoint it is really quite excellent. On the high side, the positive predictive value is about 98 percent. With the good news being if you test low risk you are unlikely to develop a severe curve, the bad news is that if you test high risk you do have a substantial chance of having severe curve. Knowing that information early in the process really helps us customize treatment for the patient and perhaps avoid needing a fusion in the future.

Is that because you can intervene sooner?

Dr. Shah: Yes.

Is there anything else that you wanted to say that you think you need to get across?

Dr. Shah: That we have one of the world's foremost treatment centers for scoliosis and spinal conditions in children. I think that it is an exciting time to be a practitioner treating patients with scoliosis because we are able to take advantage of some of these new technological advances. We talked about genetic tests, we talked about a new way to image people, and surgery has gotten safer. We now have ways to image our implants intra-operatively, obtain the best, safest correction, and protect patients from some of the complications that were seen in surgery 20 and 30 years ago. This is going to help patients live better lives in the future.

Do they use that for other things, the EOS machine?

Dr. Shah: Yes, in addition to low dose imaging for spine patients, the EOS machine is useful for other areas in orthopaedics. If you have a limb deformity, such as one leg that is shorter than the other or a leg that may have grown into a curved direction, and were planning an osteotomy which is cutting the bone, correcting it and applying a fixator to do that, this technology also helps surgeons. They can get a 3-dimensional model of the leg and compare it to the normal side and see accurately how they need to correct the leg to achieve equal and symmetric leg lengths.

FOR MORE INFORMATION, PLEASE CONTACT:

Steve Maurer
Spine and Scoliosis Center
(302) 651-5012
smaurer@nemours.org

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