DNA test for scoliosis

[MissEmmyF]

interesting article...
http://ny1.com/7-brooklyn-news-conte...osis-treatment

[titaniumed]

Interesting.

Who would have known that ones life would be determined by a single spit.

Valuable, provided its accurate.....

Saliva diagnostics Inc was a company in 1993 that was working on a spit test for Aids.

They went bankrupt.
Ed

[Pooka1]

They seem pretty confident in the results. If I recall the graph, it was pretty tight so maybe they have reason to be confident.

Because it is so tight, that would tend to undermine the germ theory of scoliosis, though, which is very popular on this forum. It doesn't explode it... there could still be some mechanism that the genes you have either allow or don't allow some reaction to the presence of a bacteria or virus or prion or whatever.

I'd like to see them test not only young kids but skeletally mature people who we know either did or did not progress with and without bracing. It seems like that would be extremely helpful in cutting to the chase as to whether bracing does change the natural history in the long term. And I'd like to see them test people who were clearly sub-surgical at skeletal maturity but who nevertheless had enough progression over time to warrant fusion. Seeing the scores for this crowd would be wildly interesting in my opinion.

[wigglesgiggles]

My daughter

My daughter, who was eleven at the time, had this Scoliscore test back in May. Her top curve was 15 degrees and bottom curve was 21 degrees at that time. Her Scoliscore test came back at 65, which is on the lower end of the scale. Doctor said to wait and watch and come back in four months. We went back in September, her top curve was 24 degrees and bottom curve was 32 degrees. Boy were we all surprized, including the doctor, that her curves changed so much considering the low score she received with the Scolisore test. So in a brace we go. The doctor also said he had a another patient that scored lower than my daughter did and had around the same sized curves at the beginning and now her curves are larger than my daughters. So needless to say we are not big fans of the test.

[Dingo]

Scoliscore

The DNA test doesn't tell a child if she will have Scoliosis or not. It tells a child with Scoliosis the likelihood that her curve will progress. Essentially if the body breaks it does so in a particular way depending on it's DNA blueprint.

It's sort of like knowing that if a 300 pound man gets punched in the jaw he might feel some temporary soreness. If a 120 pound man receives the same punch he might be knocked unconscious. Obviously if a man doesn't get punched in the first place his physical size doesn't matter.

I used size as an example because long before there was a DNA test scientists knew that body type had a significant impact on curve progression. Stocky, athletic people have less risk of curve progression.

Relation between adolescent idiopathic scoliosis and morphologic somatotypes.

Adolescent girls with progressive adolescent idiopathic scoliosis have a morphologic somatotype that is different from the normal adolescent population. Subjects with progressive adolescent idiopathic scoliosis are significantly less mesomorphic than control girls. This observation may be of value as a predictive factor for early identification of subjects with adolescent idiopathic scoliosis at greater risk of progression.

Because a picture is worth a thousand words... Endomorph - Mesomorph - Ectomorph

[Pooka1]

That's interesting Wigglesgiggles.

You know, with this medical testing stuff, the researcher's work is constantly being tested.

Before I said the data looked tight. But I was assuming the error bars were too small to show on the graph. Now I would like to see those data plotted with error bars. It might get real messy, real quick. And if the error bars are huge then people should know about that and what it means to the variability of the prediction.

In other words, if the test has a very low precision, it doesn't matter how accurate the mean or median is at some point.

[Pooka1]

The DNA test doesn't tell a child if she will have Scoliosis or not. It tells a child with Scoliosis the likelihood that her curve will progress.

It's sort of like knowing that if a 300 pound man gets punched in the jaw he might feel some temporary soreness. If a 120 pound man gets punched in the jaw he might be knocked unconscious. However if a man doesn't get punched in the first place his physical size doesn't matter.

Maybe they tested people who don't have scoliosis and got straight zeros all across the board. Then what?

I think they should do that testing if they haven't already.

[mamamax]

Good point Dingo. Here's some additional info on Scolioscore:

http://www.fixscoliosis.com/forum/sh...?p=593#post593

[Pooka1]

first place his physical size doesn't matter.

I used size as an example because interestingly enough the way your body is built has a significant impact on curve progression. Stocky, athletic people have less risk of curve progression.

Relation between adolescent idiopathic scoliosis and morphologic somatotypes.


Because a picture is worth a thousand words... Endomorph - Mesomorph - Ectomorph

Because body type is under complete genetic control (and not germ control), wouldn't that observed result... a good correlation between body type and scoliosis almost completely undermine the germ theory of scoliosis?

[Pooka1]

Good point Dingo. Here's some additional info on Scolioscore:

http://www.fixscoliosis.com/forum/sh...?p=593#post593

Know your posters...

The guy who wrote that post is the very same guy who is featured in the following video claiming to cure scoliosis using a hand-held modified jig saw...

http://www.scoliosis.org/forum/showthread.php?t=9545

Yes we in fact CAN draw conclusions at this point about his logical capacity and reasoning ability.

[tonibunny]

I asked my consultant about this test, and he seemed to think it looked very encouraging - he and his colleagues (all SRS members) are following the work with a great deal of interest. I also asked him about the melatonin/pineal gland thing but he said that he feels this is a dead end. I'm not sure why, as we didn't have time to discuss things in depth. He could be wrong about both, but I have a lot of respect for his opinion, he's very clued up.

It will be very interesting to see how things pan out, though I wouldn't bank on the results for quite a while yet! Wigglesgiggles has just shown once again that we can't take anything for granted regarding scoliosis.

[concerned dad]

Wouldnt identical twins be expected to have identical scolioscores?

Since we know (or think we know.... let's say we have evidence to suggest) that the incidence of progressive scoliosis in both identical twins is not common (at least, not a given), well, wouldnt that sort of take away from the validity of the scolioscore test?

Also, I dont think this takes away from the "germ" theory. I think Dingo posited that the "germ" is likely common and that genetic make-up may make some folks more susceptable (to the commonplace "germ").

What I find interesting, is how they (Scolioscore folks) plotted from their data two curves. Seperating the braced and unbraced kids. If bracing "worked" (lets say, "changed the natural course of progression") we would have expected to see a difference in the curves. In fact, we saw the braced cohort higher on the curve (rather than lower). (This is a SOSORT paper I linked in the Axial Biotech thread). That always baffled me and originally I dismissed it as thought these scolioscore guys were on the wrong track. Since my thinking on this has evolved.... I wonder just what it all means. I think they came up with evidence (NOT proof) that bracing does not alter the natural history. Is it valid (or am I even interpreting it correctly), I dont know. But it is a small bit of data addressing the question from a totally different angle.

Here is a link to the scolioscore paper
To "spell out" what I am talking about here. Look at their figure 1 (zoom in on it).
If someone had a Scolioscore of 100, the graph suggests that they have a HIGHER liklihood of progressing if they are braced. Wierd, no?

Third edit here:
In their response to a comment that basically says "how can this be since we have shown data to support a decrease in curves with bracing" they replied:

The most important point of the paper is that clinical research on AIS bracing must be properly designed. Small series, anecdotal reports or study cohorts that contain patients with different risks of curve progression do not meet the threshold for scientific inquiry

He goes on to challenge them (in a polite way) saying:
It is clear that brace methods vary widely and to document the efficacy of any particular method requires genotype homogeneity in the study cohort. SOSORT has the potential to educate the rest of the world about successful bracing in AIS and well designed studies will advance that process.

Which I read to mean, "do a good study comparing similar subjects ("genotype homogeneity") and then you may convince me."

[Ballet Mom]

My daughter, who was eleven at the time, had this Scoliscore test back in May. Her top curve was 15 degrees and bottom curve was 21 degrees at that time. Her Scoliscore test came back at 65, which is on the lower end of the scale. Doctor said to wait and watch and come back in four months. We went back in September, her top curve was 24 degrees and bottom curve was 32 degrees. Boy were we all surprized, including the doctor, that her curves changed so much considering the low score she received with the Scolisore test. So in a brace we go. The doctor also said he had a another patient that scored lower than my daughter did and had around the same sized curves at the beginning and now her curves are larger than my daughters. So needless to say we are not big fans of the test.

I have been very nervous for the kids that are going to be doing the final testing on the general population for this Scolioscore. Just with these two results from one doctor is enough to warrant great caution on the use of this test. Fortunately for you, your daughter probably wouldn't have been prescribed a brace anyway at that visit and your doctor saw her again in four months time, which is what would have happened anyway. I really worry for the kids that are 25 degrees and told to wait due to this test and actually should have been immediately braced. I hope no damage is being done.

[mamamax]

Know your posters...

The guy who wrote that post is the very same guy who is featured in the following video claiming to cure scoliosis using a hand-held modified jig saw...

http://www.scoliosis.org/forum/showthread.php?t=9545

Yes we in fact CAN draw conclusions at this point about his logical capacity and reasoning ability.

The reason I gave that link is this: it provided some interesting information provided in the kit, from someone using the kit. More information that I could find at the manufacturer's web site. Specifically:

Test Parameters
Caucasian decent only
Ages 9-13 (up to 14 or 15 years of age if the patient hasn't reached skeletal maturity)
Cobb angle 10-25 degrees

The test compares the patients genetic markers against 53 other markers that have been identified as high risk from the profile of 1000's of patients whose curves progressed beyond 40 degrees before skeletal maturity. The more marker matches to the profile the higher the risk.

The list price of the test is $2,900 is and covered by insurance.

Test claims to be 99% accurate and only determines whether or not the curvature will reach surgical threshold (40-45 degrees) while the patient is skeletally immature.

Looks like this test hopes to identify those who will progress to surgical needs and eliminate those who won't (among those who are not skeletally mature). I think that proof that it works 99% of the time (or proof that it doesn't work), is a few years down the road.

The Manufacturer states that the data used in developing this test is comes from 9,500 patients. They also state that 100,000 cases of AIS are diagnosed per year. Once we have all of these diagnoses on file (using this test) over a period of several years, we will know more.

At this point - looks very limited to me - and not necessarily all that we may want it to be - at this time.

Manufacturer's web site: http://www.axialbiotech.com/company/find/press/2009/16

[Ballet Mom]

Good point Dingo. Here's some additional info on Scolioscore:

http://www.fixscoliosis.com/forum/sh...?p=593#post593

Mamamax,

As far as I'm concerned, this guy needs to prove his own method scientifically for others to see. He's just trying to find any thing he can to try and validate his belief that bracing doesn't work and therefore a modified Makita jig saw, and a medieval looking scoliosis chair with vibration, obviously would do the trick instead.

What's he going to do with the Scolioscore results, rev up the Makita and jiggle the patient for additional hours?