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MissEmmyF
11-13-2009, 04:59 PM
interesting article...
http://ny1.com/7-brooklyn-news-content/ny1_living/108654/dna-test-may-provide-straight-answer-to-scoliosis-treatment

titaniumed
11-13-2009, 11:33 PM
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
11-14-2009, 10:13 AM
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
11-14-2009, 10:13 AM
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
11-14-2009, 10:19 AM
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 (http://www.ncbi.nlm.nih.gov/pubmed/9383860).

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 (http://img.tfd.com/mosbycam/thumbs/500227-fx24.jpg)

Pooka1
11-14-2009, 10:22 AM
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
11-14-2009, 10:24 AM
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
11-14-2009, 10:27 AM
Good point Dingo. Here's some additional info on Scolioscore:

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

Pooka1
11-14-2009, 10:34 AM
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 (http://www.ncbi.nlm.nih.gov/pubmed/9383860).


Because a picture is worth a thousand words... Endomorph - Mesomorph - Ectomorph (http://img.tfd.com/mosbycam/thumbs/500227-fx24.jpg)

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
11-14-2009, 10:47 AM
Good point Dingo. Here's some additional info on Scolioscore:

http://www.fixscoliosis.com/forum/showthread.php?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
11-14-2009, 11:03 AM
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
11-14-2009, 12:33 PM
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 (http://www.sosort-lyon.net/pdf/saa1.pdf)
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
11-14-2009, 03:04 PM
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
11-14-2009, 03:08 PM
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
11-14-2009, 03:11 PM
Good point Dingo. Here's some additional info on Scolioscore:

http://www.fixscoliosis.com/forum/showthread.php?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?

mamamax
11-14-2009, 04:03 PM
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?

Well, here's my thinking - taking the messenger out of the picture - I wanted to look at the information provided in the kit. I think that information is important when trying to determine how much weight should be given to it in making treatment choices. Couldn't find the info anywhere else.

As for what anyone will do with the testing - I imagine (but do not know) that results will probably be fed into a database for future updating?

As for an opinion regarding said messenger - I will say that using the word "cure" in the same sentence with any scoliosis treatment is, well - at the very least, not using one's best judgment. And I do not agree that this test can in any way negate the value of bracing.

The information in the kit however - really is valuable to us all - because, it shows, in general, that it is limited in scope.

Pooka1
11-14-2009, 04:25 PM
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?

Post of the month nomination. :)

Pooka1
11-14-2009, 04:45 PM
Wouldnt identical twins be expected to have identical scolioscores?

Well as we discussed before, identical twins can differ within some small boundaries for various reasons. They can differ quite a lot in the case of different X genes dominating (Lyonization) to the point where one has a dread genetic disease and the other doesn't although they are identical. But for the most part, yes.


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?

The concordance of scoliosis in identical twins is up over 90% when you throw out single, non-reproducible GIGO Danish studies as far as I know. That can not be used to discount Scoliscore but rather supports it. Still you wouldn't expect it to be so high necessarily... I did bounce of the reasoning about not being able to use identical twins in studying midline disorders off our surgeon and he agreed. So that is more evidence that the Danish twins study didn't get adequate peer review and probably shouldn't have been published to go on a confuse little bunnies out there. :)

There are reasons that most published results are false... we are seeing some of those reasons now.


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").

Where is the evidence for that postulate though?


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.

I have come across the suggestion that bracing can be worse than nothing presumably due to loss of muscle tone. This graph would be consistent with that suggestion though there is no real evidence to support the claim.


Here is a link to the scolioscore paper (http://www.sosort-lyon.net/pdf/saa1.pdf)
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?


That graph needs error bars. With error bars, you would probably conclude the two lines were not different and that if they did another cohort, you might not see the braced line above the unbraced. That is the error bars likely completely overlap. Mere chance that it fell out that way is my guess.

LindaRacine
11-14-2009, 09:13 PM
Imagine that... FixScoliosis using the Scoliscore test. How can insurance companies justify reimbursing him for the test, when there's no proof that he can do anything with the results?

It's really pissing me off that reknowned surgeons are routinely having reimbursement for scoliosis surgeries denied (and then approved when challenged), but chiropractors can get a Scolioscore test reimbursed. Ridiculous. It shouldn't surprise us that spine centers around the country have to have more insurance billers on staff than surgeons.

--Linda

LindaRacine
11-14-2009, 09:44 PM
I suspect that insurance companies pay for the test because it decreases the number of children they have to pay to brace (since, presumably, a child with a low score will chose not to be braced.)

Maybe. Or, maybe, they'll use the test to justify bracing kids with 10 degree curves.

Dingo
11-14-2009, 09:50 PM
Pooka1


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?

Scoliosis appears to be caused by a neurological dysfunction. Whether it's caused by heredity or environment is not relevant to what might protect a child from curve progression. It seems likely that muscular body types protect a child from curve progression for purely mechanical reasons.

As for the Scoliscore it wouldn't surprise me if some of the genes it's designed to detect relate to body type.

Dingo
11-14-2009, 09:58 PM
Concerned Dad


Wouldnt identical twins be expected to have identical scolioscores?

Bingo! These genes are only risk factors for curve progression.

2007 Adolescent idiopathic scoliosis in twins: a population-based survey. (http://www.ncbi.nlm.nih.gov/pubmed/17426641)


Pairwise, the concordance rate was 0.13 for monozygotic and zero for dizygotic twin pairs; proband-wise concordance was 0.25 for monozygotic and zero for dizygotic pairs. The concordance of monozygotic and dizygotic pairs was significantly different (P < 0.05). CONCLUSION: We have found evidence for a genetic etiology in AIS, but the risk of developing scoliosis in 1 twin whose other twin has scoliosis is smaller than believed up until now.

BTW if anyone knows of a larger study with a similarly random sample please post it. For that matter please post a link to any twin study if you've got one. My guess is that any study showing a 90% concordance rate is going to be significantly smaller and less random than this one.


If someone had a Scolioscore of 100, the graph suggests that they have a HIGHER liklihood of progressing if they are braced.

That may be a very relevant discovery once scientists understand why. There might be 1,000 good explanations. Maybe one is that children who have a high risk of progression tend to have the least muscle mass. Bracing might lead to muscle atrophy which in these children only makes the problem worse.

Pooka1
11-14-2009, 10:03 PM
It seems likely that muscular body types protect a child from curve progression for purely mechanical reasons.

If that was true then why is there zero long term evidence that exercise can permanently stop progression or permanently reduce a curve (after stopping the exercise)?

I mean even Betty 14 never claimed that for exercise and that is saying something.

Pooka1
11-14-2009, 10:07 PM
BTW if anyone knows of a larger study with a similarly random sample please post it. For that matter please post a link to any twin study if you've got one. My guess is that any study showing a 90% concordance rate is going to be significantly smaller and less random than this one.

Any study withOUT self identification of zygosity and scoliosis is BY DEFINITION better than the Danish study.

And there is good reason not to use monozygous twins to study scoliosis (or any midline disorder) in the first place. This is clearly a case of inadequate peer review for many reasons.

Dingo
11-14-2009, 10:12 PM
Pooka1


If that was true then why is there zero long term evidence that exercise can permanently stop progression or permanently reduce a curve (after stopping the exercise)?

Torso Rotation strength training (http://www.scoliosis.org/forum/showthread.php?t=8976) is a new discovery. In 20 years I'm sure there will be dozens of papers on it.


Any study withOUT self identification of zygosity and scoliosis is BY DEFINITION better than the Danish study.

Like I said before if you've got a link to a twin study please post it.

Pooka1
11-14-2009, 10:18 PM
Torso Rotation strength training[/URL] is a new discovery. In 20 years I'm sure there will be many papers on it.

That's what Schroth was saying, 20, 40 and 60 years ago. The world is still waiting.

And even some people who have studied it say they can't find bilateral asymmetries in muscle which is the underlying claim.


Like I said before if you've got a link to a twin study please post it.

You are avoiding the following issues:

1. there are reasons monozygotic twins are not good test subjects for scoliosis etiology.

2. there are reasons this type of study is very likely to be false.

Dingo
11-14-2009, 10:29 PM
1997: Idiopathic scoliosis in twins (http://www.jbjs.org.uk/cgi/reprint/80-B/2/212.pdf)


We investigated 21 pairs of twins for zygosity and idiopathic scoliosis. DNA fingerprinting confirmed that 13 pairs were monozygotic and eight were dizygotic. There was concordance for idiopathic scoliosis in 92.3% of monozygotic and 62.5% of dizygotic twins.

Of the 12 pairs of monozygotic twins concordant for idiopathic scoliosis, six showed discordant curve patterns but eight had differences in Cobb angle of less than 10°. Seven of the ten pairs of monozygotic twins had similar back shapes.

Our findings suggest that there is a genetic factor in the aetiology of idiopathic scoliosis; they also indicate that there is a genetic factor in both the severity of the curve and the general shape of the back.

The sample size is very small and I don't believe it was chosen randomly. Looking through the study I can't find a mention of how the sample was chosen.

In 2004 Moreau released a study on Melatonin Signaling Dysfunction and Scoliosis.
Melatonin Signaling Dysfunction in Adolescent Idiopathic Scoliosis (http://pico.sssup.it/files/allegati/2004_1469.pdf)

His sample consisted of 41 children who had severe Scoliosis that required fusion. These children were undoubtably highly, genetically susceptible to Scoliosis. Even so only about a third had a relative with any type of known spinal disorder (scroll to page 2). If Scoliosis was pure heredity that number would have approached 100% and most children would have had several 1st, 2nd or 3rd degree relatives with severe Scoliosis.

Pooka1
11-14-2009, 10:41 PM
1997: [URL="http://www.jbjs.org.uk/cgi/reprint/80-B/2/212.pdf"]
The sample size is very small and I don't believe it was chosen randomly. Looking through the study I can't find a mention of how the sample was chosen.

Ask yourself why the Danish study, being so large as you continually point out, did NOT have the expected percentage of people with scoliosis or the expected split between mono- and di- zygotic twins (IIRC).

That alone and all by itself casts doubt on self reported zygosity and incidence of scoliosis.

Stephen Pinker recently mentioned the study about most research results are false. I am NOT going to make an argument from authority here.

I am simply asking you to consider that you are missing a BOATLOAD of knowledge NECESSARY to interpret these studies. And I am further suggesting even researches are missing important variables in their analysis.

And finally I am pointing out that you casually dismiss realities like that study showing most results are false with some offhand comment that you simply aren't interested in that little fact. Well when people like Stephen Pinker are interested in some little fact, I suggest it might be significant. No guarantees though.

Scoliosis is worse than rocket science in terms of complexity. Far, far worse. It is proving to be a very tough nut to crack and no amount of searching the literature is necessarily going to yield the answer for at least a few reasons.

Dingo
11-14-2009, 11:30 PM
Pooka1


Scoliosis is worse than rocket science in terms of complexity. Far, far worse. It is proving to be a very tough nut to crack and no amount of searching the literature is necessarily going to yield the answer for at least a few reasons.

In the meantime please post links to any twin studies you run across.

Pooka1
11-14-2009, 11:33 PM
Pooka1



In the meantime please post links to any twin studies you run across.

We are clearly not communicating.

Dingo
11-15-2009, 01:49 AM
1997: Idiopathic scoliosis in twins (http://www.jbjs.org.uk/cgi/reprint/80-B/2/212.pdf)


We investigated 21 pairs of twins for zygosity and idiopathic scoliosis. DNA fingerprinting confirmed that 13 pairs were monozygotic and eight were dizygotic. There was concordance for idiopathic scoliosis in 92.3% of monozygotic and 62.5% of dizygotic twins.

What's a Dizygotic (fraternal) twin?

Dizygotic (fraternal) Twins (http://en.wikipedia.org/wiki/Dizygotic_twins)

When two eggs are independently fertilized by two different sperm cells, DZ twins result.

DZ twins are simply brothers and/or sisters who happen to be the same age.

Does anyone on here believe that brothers and sisters are typically 62.5% concordant for Scoliosis? Put simply if a child has Scoliosis every one of his brothers and sisters has a roughly 2 out of 3 chance to also have Scoliosis.

That's not just bunk, that's UBER-bunk! :D

Ballet Mom
11-15-2009, 03:22 AM
Imagine that... FixScoliosis using the Scoliscore test. How can insurance companies justify reimbursing him for the test, when there's no proof that he can do anything with the results?

It's really pissing me off that reknowned surgeons are routinely having reimbursement for scoliosis surgeries denied (and then approved when challenged), but chiropractors can get a Scolioscore test reimbursed. Ridiculous. It shouldn't surprise us that spine centers around the country have to have more insurance billers on staff than surgeons.

--Linda


I agree, pretty ridiculous. It hopefully wouldn't get reimbursed if submitted , because as we all know, there probably would be no way they wouldn't treat someone based on the test results if they were low scores, and they certainly don't have a decision to make regarding bracing. And the Spinecor chiros want to brace immediately, no matter how small the size, so the test does nothing for them either.

I suspect it might be considered insurance fraud should it be submitted, as it would be ordering unnecessary tests that would not be used to take any different course of action than what the norm is. I'm sure the insurance companies will be looking into three thousand dollar tests!

Ballet Mom
11-15-2009, 03:31 AM
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




Hi Mamamax,

Yes, that is very interesting information. Thanks for posting.

It's this that made my blood boil :mad: :


Here is the real pay off in my mind. Patients who have a low or intermediate risk according to scoliscore don't even need to see an orthopedist for their condition. Plus, just think of the anxiety it will reduce for patients and parents alike....AND the x-ray monitoring schedule can be completely re-thought for low/intermediate risk cases vs. high risk cases.

A non-high risk scoliscore patient can be managed entirely with an active rehab program during the condition's early stages to minimize and reduce the risk and effect of the condition on body image/disfigurement.


Early stage scoliosis detection and intervention = The DEATH OF SPINAL BRACING.
Given the fact the bracing is only intended to reduce the "need" for surgery (with studies show it has no effect on) and that the 3-D CAT scans are finding the rigid braces probably are actually worsening the rib cage rotation (increasing the body disfigurement)......It would seem the days of back bracing are severely numbered.

Only 1% (the high risk group) should even consider spinal bracing......and even that is most likely a waste of time.

<--- This is me being very happy for all of the future scoliosis patients!

He thinks there's no need to see an orthopedist and everything can just be managed by the chiros...he's licking his chops at this he's so happy totally misinterpreting everything. Ugh.

mamamax
11-15-2009, 08:19 AM
Hi Mamamax,

Yes, that is very interesting information. Thanks for posting.

It's this that made my blood boil :mad: :



He thinks there's no need to see an orthopedist and everything can just be managed by the chiros...he's licking his chops at this he's so happy totally misinterpreting everything. Ugh.

Thanks Ballet Mom - the information (found in the kit) takes more precedence over any emotion I may feel as a result of one person's interpretation of it - even if I strongly disagree with said interpretation ;-)

Here's what I really think about this test - it is way too early to use it as a treatment tool and at this point I see it as nothing more than investigational and experimental. It may be the beginning of the formation of a large database of information that could prove useful in the future. A price tag of $2,900 is ... absurd, in my humble opinion.

Hmmm ... the manufacturer states that 100,000 cases of AIS are diagnosed yearly, if the majority of these become test participants (largely funded by the insurance industry in the hopes of better defining, or excluding, those who are candidates for very expensive surgery) - that's a lot of money!! Where is that money going?

I might feel a bit better about its price tag if someone could tell me the money was being reinvested in research. That is if Dingo had the majority vote in the budgeting :-)

Pooka1
11-15-2009, 09:03 AM
Hmmm ... the manufacturer states that 100,000 cases of AIS are diagnosed yearly, if the majority of these become test participants (largely funded by the insurance industry in the hopes of better defining, or excluding, those who are candidates for very expensive surgery) - that's a lot of money!! Where is that money going?

I might feel a bit better about its price tag if someone could tell me the money was being reinvested in research. That is if Dingo had the majority vote in the budgeting :-)

Well most of that money is going towards the analysis. But I just read that the cost of doing this type of work is coming down. If so, I would expect the cost of this test would come down commensurately. If not then the overage might be going into housing on Tahiti, in Monaco, etc. :)

No actually, I think the insurance companies have people who know damn well what this analysis actually costs and might only reimburse for that amount.

mamamax
11-15-2009, 09:56 AM
For under $300 it is possible to obtain a lot more information about my genetic disposition: https://www.familytreedna.com/

So yes, I do question the price tag (and the reliability of) this DNA analysis which is limited to (1) the Caucasian decent only (2) the skeletally immature; and which is based upon a relatively small collection of data.

And another point - not all AIS is genetic, genetics is only one factor that determines the health (or lack thereof) for anyone. The other factors that effect health (explained to me by a medical doctor) are: environment, life style, and world view.

Maybe this new testing will one day lead to identifying all the many causes of AIS (which total well over 70 in number at this point), and the best treatments for each. That would be good - and well worth the cost, IF that is what it eventually does. Guess we'll see. For now, my main concern is that the test - is a test, and not something we can rely on 100% - as evidenced up thread by those who were advised that curvature would probably not advance (based on this test), only to find that it did.

As for insurance companies - they will always do whatever they believe best benefits them. I can get quite emotional knowing that my medical doctor may know the best treatment for me - but may not be able to offer me that treatment because, the insurance company disagrees. That is of course, another thread ;-)

mamamax
11-15-2009, 03:13 PM
Well most of that money is going towards the analysis. But I just read that the cost of doing this type of work is coming down. If so, I would expect the cost of this test would come down commensurately. If not then the overage might be going into housing on Tahiti, in Monaco, etc. :)



Agreed - up to a point. I predict all sorts of committees will be formed - overages will be distributed among committee heads who will be allowed to work from home (due to technology) - and home will probably yes, be: Monaco, Tahita, etc. :mad:

Then again maybe I'm just suffering a little apathy/angst over the fact that a cure seems so far away :o

Dingo
11-15-2009, 03:53 PM
This is from Mamamax's post


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.

I don't want to discount this test too much. It may turn out to be highly accurate. However the quote above indicates that the makers of the test may have no idea why their test is accurate. They are simply finding the genes that seem to correlate with curve progression in children who already have Scoliosis. For all anybody knows these genes may by significantly related to physical stature, i.e. Ectomorph, Endomorph and Mesomorph (http://www.fat2fitradio.com/wp-content/uploads/2007/10/bodytypes.jpg). And of course it doesn't take a $2,000 genetic test to know that a tall, skinny child has a greater risk of curve progression than a short, stocky child. It would be somewhat amusing if scientists invested millions of dollars to develop an expensive test that could detect if a child has genes that contribute to height and musculature.... something that could easily be determined visually by nonexperts. :rolleyes:

mamamax
11-15-2009, 04:24 PM
I would agree with that thought Dingo - that they may have no idea exactly why their test has any accuracy to it. I think they are looking to find out why - and patients will be paying for the research! Your sense of humor comes at a good time (regarding the hypothetical testing of the obvious). Thanks :-)

Pooka1
11-15-2009, 07:53 PM
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.

Well, I think once PETA catches wind of the "bipedalized" mice they might be expecting attacks on the labs especially since there is likely zero data showing that bipedalizing a quadruped is at all analogous to a biped.

Just my opinion.

PNUTTRO
11-15-2009, 09:06 PM
The scolioscore tests 53 DNA sequences. Each of which is not a good indicator of anything, so in combination, the still are not good indicators of anything.

but lets pretend it is a good prognostic test for progression.

You have scoliosis already. (no different with or without the test)
You need to be monitored regularly (no different with or without the test)
You will be braced based not on you genetic test, but on you actual curves and your doctor's preferences. (no different with or without the test)

Save your money.

p

wigglesgiggles
11-15-2009, 09:22 PM
With my daughters experience with this test, I wholeheartedly agree with you. Save your money.

Pooka1
11-15-2009, 09:22 PM
You will be braced based not on you genetic test, but on you actual curves and your doctor's preferences. (no different with or without the test)


Actually, apparently Lonner is not bracing based on the test results (per that article). Now that assumes he would have braced absent the test results, something we don't know.

PNUTTRO
11-15-2009, 09:35 PM
Does anyone on here believe that brothers and sisters are typically 62.5% concordant for Scoliosis? Put simply if a child has Scoliosis every one of his brothers and sisters has a roughly 2 out of 3 chance to also have Scoliosis.

I think you're right about that being too high. Especially since siblings only share on average 50% of the same genetic information.

Do any of these twin studies break down the male/female differences? I think its relevant since females are affected at significantly higher rates.

The numbers in the following reference look more realistic. I don't have an opinion about if it is right. Honestly, I am not interested in reading the whole paper. You can peel it apart. Pooka has a point that the Danish study is probably too low.




Spine (Phila Pa 1976). 1997 Sep 1;22(17):2009-14; discussion 2015.
Scoliosis in twins. A meta-analysis of the literature and report of six cases.

Kesling KL, Reinker KA.

Triple Army Medical Center, Honolulu, Hawaii, USA.

STUDY DESIGN: This study is a meta-analysis of the world's literature on adolescent idiopathic scoliosis in monozygotic and dizygotic twins. Additionally, six previously unreported cases of scoliosis in twins are presented. OBJECTIVES: To compare and contrast the concordance, severity, and curve patterns in monozygotic and dizygotic twins with adolescent idiopathic scoliosis in an attempt to document a genetic etiology and delineate inheritance patterns for adolescent idiopathic scoliosis. SUMMARY OF BACKGROUND DATA: There are numerous case reports of twins sets with adolescent idiopathic scoliosis. However, this data has not been previously analyzed as a single data base. METHODS: The literature was searched for cases of twins with adolescent idiopathic scoliosis, and six cases of patients treated by authors were added. One hundred cases of sets of twins were discovered, 68 of which had sufficient data for comparative analysis. Each set was evaluated for monozygosity, concordance of scoliosis, curve pattern, and severity of curve. RESULTS: Thirty-seven sets of twins were monozygous, and 31 sets were dizygous. Concordance was 73% among monozygous twins and 36% among dizygous twins. The difference is statistically significant at P < 0.003. Curve severity could be compared in 20 sets of monozygous twins and 16 sets of dizygous twins. Among monozygous twins, there was a correlation coefficient of r = 0.399 (P < 0.126). Curve pattern comparison was not statistically significant. CONCLUSIONS: Monozygous twins have a significantly higher rate of concordance than dizygous twins, and the curves in monozygous twins develop and progress together. Based on these data, there is strong evidence for a genetic etiology for adolescent idiopathic scoliosis.

PNUTTRO
11-15-2009, 09:39 PM
Actually, apparently Lonner is not bracing based on the test results (per that article). Now that assumes he would have braced absent the test results, something we don't know.

I don't see the difference. If the test says you won't progress but you do anyway (sans intervention) the outcome is the same.

Pooka1
11-16-2009, 05:27 AM
I think you're right about that being too high. Especially since siblings only share on average 50% of the same genetic information.

But this observation is consistent with the germ theory of scoliosis, yes?


Spine (Phila Pa 1976). 1997 Sep 1;22(17):2009-14; discussion 2015.
Scoliosis in twins. A meta-analysis of the literature and report of six cases.

Kesling KL, Reinker KA.


I'd like folks to try to imagine this paper being written on self-reported zygosity and scoliosis. Just try. The hew and cry would be deafening.

Very clearly the only reason the Danish study made it to print is the large cohort. But by their own numbers, we know those data are flawed.

I don't think most folks realize the sheer volume of specious reasons out there that parents deny identicalness. Read the "reasoning" the Olsen twins give on their web page. Stem to stern nonsense... ignorance on the wing. My twins differ in all those respects and then some and they are without a doubt identical (one chorion).

Pooka1
11-16-2009, 05:42 AM
From the Danish Twins study...

1. self reporting of zygosity and scolisois status, both with known bad track records for accuracy in self reports.

2. problematic data selection:


A total of 34,944 (75.3%) representing 23,204 pairs returned the questionnaire. RESULTS: A subgroup of 220 subjects considered to have AIS was identified, thus giving a prevalence of 1.05%.

Based on responses to a survey by the (untrained) subjects, the researchers made a further decision about whether these 220 in fact did have scoliosis. The incidence of scoliosis (1%) is a clue that they are missing at least half and possibly 2/3 of the scoliosis cases, perhaps the milder ones. This is no small omission.


The concordant twin pairs were all monozygotic. Pairwise, the concordance rate was 0.13 for monozygotic and zero for dizygotic twin pairs; proband-wise concordance was 0.25 for monozygotic and zero for dizygotic pairs.

Zero for fraternal twins? Doesn't that completely undermine the germ theory of scoliosis?

I would hope the full text also includes the number of mono and di pairs. These subjects were born before 1982 (before in vitro fertilization took off) and that ratio is well know. If the self reports don't match that ratio then we know almost for a fact the (self-reported) zygosity is wrong given how large the sample size is.

I haven't seen this paper but my guess is the number of identicals is extremely underestimated in these self reports. And we know the incidence of scoliosis is underestimated by half to two-thirds. I don't know what others think GIGO is but this paper falls into that definition for me.

mamamax
11-16-2009, 06:00 AM
Interested in what Sharon may gleen from this one:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2148088/

ABSTRACT

Treating children with idiopathic scoliosis can amaze someone at the many different ways in which the deformity can present. Most authors state that genetics stipulates the course of adolescent idiopathic scoliosis. This is mainly based on the high concordance in monozygotic twins. However, there is indication that environmental factors have influences on adolescent idiopathic scoliosis. This is the first report in which a monozygotic twin pair is described concordant for idiopathic scoliosis but with different apical levels, magnitudes and age at detection of scoliosis which stresses the importance of environmental factors.

Dingo
11-16-2009, 07:39 AM
Pooka1


But this observation is consistent with the germ theory of scoliosis, yes?

Brothers and sisters share 50% of their DNA so a 62.5% concordance rate would indicate environment.

However life experience makes it pretty obvious that Scoliosis isn't 62.5% concordant among siblings. I doubt it's even that high among identical twins.

A small percentage of families are hit very hard by Scoliosis but it strikes most kids seemingly out of nowhere.

Pooka1
11-16-2009, 04:26 PM
Interested in what Sharon may gleen from this one:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2148088/

ABSTRACT

Treating children with idiopathic scoliosis can amaze someone at the many different ways in which the deformity can present. Most authors state that genetics stipulates the course of adolescent idiopathic scoliosis. This is mainly based on the high concordance in monozygotic twins. However, there is indication that environmental factors have influences on adolescent idiopathic scoliosis. This is the first report in which a monozygotic twin pair is described concordant for idiopathic scoliosis but with different apical levels, magnitudes and age at detection of scoliosis which stresses the importance of environmental factors.

That's a pretty interesting article!

I mentioned everal months ago how researchers were finding differences that were much more than expected between monozogotic twins and epigenetic changes were suggested as a likely cause of the differences. This paper is consistent with that.

Last, I think until they start rigorously identifying the connective tissue disorder patients within the AIS population, the data will be muddied.

Dingo
11-16-2009, 04:46 PM
I should add one thing. Just because a twin study finds that a particular disorder is 25%, 50% or 75% concordant doesn't mean it is 25%, 50% or 75% genetic.

Leprosy (http://en.wikipedia.org/wiki/Leprosy) is caused by a bacterial infection that can be cured with antibiotics. Depending on the study identical twins are 60% to 80% concordant.

Like so many other diseases genes create susceptability to a particular type of environmental damage. Because twins share the same genetic susceptability and live in the same home if one succumbs it's very likely that the other will too.

Pooka1
11-16-2009, 04:53 PM
No I don't think anyone is interpreting the concordance between identical twins in isolation apart from a cohort of fraternal twins.

Looking at only identical, it is impossible to say what is genetic, epigenetic, and environmental.

It is only when the comparison is made to fraternals that there is any hope of making a conclusion unless they otherwise know something is under genetic control and they can then look for epigenetic differences and things like that. But you can't answer the primary question of etiology just by looking at either identicals or fraternals.

Dingo
11-16-2009, 05:00 PM
Pooka1

The fact that 2 out of 3 children with severe Scoliosis have no 1st, 2nd or 3rd degree relatives with any known spinal disorder says more about the genetics of Scoliosis than any twin study so far.

Melatonin Signaling Dysfunction in Adolescent Idiopathic Scoliosis (http://pico.sssup.it/files/allegati/2004_1469.pdf) (scroll to page 2 for the table)

Pooka1
11-16-2009, 05:10 PM
I do NOT consider that a fact. We have some evidence (Danish Twins Study) that at least half and perhaps 2/3 of scoliosis cases are missed in self reports. It is very likely that most, a majority of cases are missed unless they become obviously surgical which we know is only a small percentage of total cases.

On this group alone and just in the last several months there are a few kids who presented with a vary large curve.

It is thus IMPOSSIBLE to say that "2 out of 3 children with severe Scoliosis have no 1st, 2nd or 3rd degree relatives with any known spinal disorder" is anything close to fact.

Rather is remains unknown what percentage of these kids have a relative (1st, 2dn or 3rd degree) with scoliosis. For all we know, it may approach 100%. We simply don't know.

Dingo
11-16-2009, 05:30 PM
Pooka1


For all we know, it may approach 100%. We simply don't know.

If Scoliosis was caused by heredity and these were the most genetically susceptible children the number would be 100%, or close to it. Severe Scoliosis should be well represented throughout most of these families.

Pooka1
11-16-2009, 05:35 PM
No there are plenty of cases where the severity differs within a family. Just because there is one bad case doesn't mean there can't be many other mild cases in the immediate and extended family.

Unless you radiograph all the relatives, you can't know. That statement is obviously unknowable and likely false.

Just read some testimonials and signatures on this site.

Dingo
11-16-2009, 05:50 PM
Pooka1

If Scoliosis was caused by heredity and it was 62.5% concordant among siblings (Idiopathic Scoliosis in twins (http://www.jbjs.org.uk/cgi/reprint/80-B/2/212.pdf)) what do you think these families and extended families would look like?

Scoliosis of all degrees from severe to mild should be everywhere.

Pooka1
11-16-2009, 05:57 PM
Pooka1

If Scoliosis was caused by heredity and it was 62.5% concordant among siblings (Idiopathic Scoliosis in twins (http://www.jbjs.org.uk/cgi/reprint/80-B/2/212.pdf)) what do you think these families and extended families would look like?

Scoliosis of all degrees from severe to mild should be everywhere.

Scoliosis should be fairly prevalent in these families and we don't know that it isn't. We know that most cases are NOT severe and never make it to surgical territory. That fact strongly suggests most cases will be mild and therefore easily missed. Even some surgical cases are missed when there is no pain and not much rotation. Again, the Danish Twins study had at least one result.... self reporting is known to miss at least half adn likely 2/3 of scoliosises. This is all consistent.

What is the evidence for the statement: "2 out of 3 children with severe Scoliosis have no 1st, 2nd or 3rd degree relatives with any known spinal disorder." Unless they radiographed every single one of these degree relatives, they can't know that. And we know they didn't radiograph all these people.

Dingo
11-16-2009, 06:07 PM
Pooka1


Scoliosis should be fairly prevalent in these families and we don't know that it isn't.

I guess time will tell but personally I'm betting on Dr. Moreau.

Dingo
11-16-2009, 06:28 PM
Pooka1

Dontcha think that the siblings of children who underwent spinal fusion would also be screened for Scoliosis? If Scoliosis was caused by heredity (say 62.5% concordant) it would be all over the place.

Your worldview that most parents are not aware of the health of their other children or extended family is not credible.

Pooka1
11-16-2009, 06:36 PM
Siblings, yes. Any further, NFW. No cousins, no aunts, not uncles, etc.

Dingo
11-16-2009, 07:40 PM
Pooka1


Siblings, yes. Any further, NFW. No cousins, no aunts, not uncles, etc.

100% of siblings would be screened for Scoliosis. If it was something like 62.5% concordant among siblings it would show up in a majority of families with 2 or more children. In addition if Scoliosis was very common in a particular extended family it would be well or at least partly known. Suggesting that all parents have no knowledge of their extended family and no member of an extended family is aware of their own health is not credible.

The fact that the parents of 2 out of 3 children with severe Scoliosis that required fusion were unaware of any family members with any type of spinal disorder is telling. Much of the time Scoliosis seems to show up out of nowhere. If you ask your daughter's surgeon I'm sure he'll agree.

Pooka1
11-16-2009, 09:59 PM
Let me illustrate.

My husband's cousin (mother's side) had had spinal fusion for scoliosis about 15 years ago.

Until 2008, his fact was completely unknown to the following people:

my husband (= a cousin of the person with scoliosis)
his mother (= an aunt of the cousin w/ scoliosis)

When my mother-in-law mentioned that my daughter had scoliosis to her mother (my daughter's great grandmother), only at that point did her mother remember that her granddaughter (my husband's cousin) had had scoliosis and fusion. My mother-in-law was very surprised to hear it so long after the fusion surgery some 15 years earlier.

So not only did my husband's cousin have scoliosis but she had had a fusion and still this fact was not well know to close relatives.

Moreover, I was visiting my mother and my aunt who live in the same senior residence. I have seen my aunt my whole life and spent time staying over at her house several times. And yet it was only this summer that she mentioned she had scoliosis, a mild case, since she was a kid. My mother never knew this. Indeed she bent over and had a rib hump. I was shocked.

During the consultation with the geneticist, I told her that there were no known people with scoliosis on either side of the family. Obviously that was VERY bad information that may or may not have compromised the case analysis.

For all I know there are PLENTY of people on both sides with it. It is naive to assume peolpe will talk about things, even surgery.

Dingo
11-16-2009, 11:14 PM
Pooka1


For all I know there are PLENTY of people on both sides with it. It is naive to assume peolpe will talk about things, even surgery.

I find your post intriguing. Do you have a hypothesis on why nobody in your family talks to each other?

Pooka1
11-17-2009, 05:25 AM
“I know that I am intelligent, because I know that I know nothing.” ~Socrates

PNUTTRO
11-17-2009, 07:06 AM
Brothers and sisters share 50% of their DNA so a 62.5% concordance rate would indicate environment.

50% ON AVERAGE
the 62.5% is an artifact of a small sample size in this study.
Environment does not equal germ theory.

Dingo
11-17-2009, 08:15 AM
PNUTTRO


the 62.5% is an artifact of a small sample size in this study.

I would not be surprised if scientists ultimately determine that Scoliosis is 6.25% concordant among siblings, not 62.5%.

I'm not entirely sure what the environmental component is that triggers Scoliosis but I continue to bet heavily on infection. I have no strong opinion on how it works.

Because Scoliosis appears to be triggered by high levels of Osteopontin (http://www.wipo.int/pctdb/en/wo.jsp?WO=2008119170&IA=CA2008000595&DISPLAY=DESC) the following paper might be relevant.

2000: Osteopontin Expression Correlates with Clinical Outcome in Patients with Mycobacterial Infection (http://ajp.amjpathol.org/cgi/content/abstract/157/1/37)


Osteopontin (OPN) is a protein that is expressed in chronic inflammatory diseases including tuberculosis, and its deficiency predisposes to more severe mycobacterial infections in mice. However, no reports have identified altered OPN expression in, or correlated these alterations to, infections in humans. The data presented herein identify alterations in the tissue expression of OPN protein and describe an inverse correlation between these levels and disease progression after inoculation of Mycobacterium bovis bacillus Calmette-Guérin vaccine in humans. Patients with regional adenitis and good clinical outcomes had abundant OPN in infected lymph nodes. This pattern of OPN accumulation was also observed in patients infected by M. avium-intracellulare. In contrast, patients with disseminated infection and histologically ill-defined granulomas had no significant osteopontin accumulation in infected lymph nodes; these patients had either deficiencies in the interferon- receptor 1 or idiopathic immune defects. The level of OPN protein expression was inversely correlated with disseminated infection and, of particular interest, with death of the patient. We conclude that osteopontin expression correlates with an effective immune and inflammatory response when humans are challenged by a mycobacterial infection and that osteopontin contributes to human resistance against mycobacteria.

Pooka1
11-17-2009, 09:14 AM
This is misleading...

I had written the following:

Moreover, I was visiting my mother and my aunt who live in the same senior residence. I have seen my aunt my whole life and spent time staying over at her house several times. And yet it was only this summer that she mentioned she had scoliosis, a mild case, since she was a kid. My mother never knew this. Indeed she bent over and had a rib hump. I was shocked.

My aunt did not know that the thing with her back was related to what my kids had nor that it was called scoliosis.

I suggest most people (outside Dingo's immediate and extended family of course) are not born knowing these things. Thus we can fully expect the self-reports to severely underestimate the incidence of scoliosis in familes.

I am not sure why others in the family didn't know the situation with my husband's cousin. I suspect they may have known she had an operation or may have heard she had a back problem but few knew the specifics - scoliosis and spinal fusion.

There are a million explanations that don't involve family members not talking to each other. If someone, say Dingo, can't imagine them then it does not follow that they don't exist.

Ballet Mom
11-17-2009, 11:54 AM
I personally think it's plausible that both of you could be right.

Perhaps there are people with scoliosis who won the genetic lottery and developed scoliosis from their genetic lineage. Yippee! ;)

There could also be scoliosis caused by people being exposed to an infectious agent who happen to have the correct genetic characteristics, such as whatever it is that causes lax joints. This would be like polio-caused scoliosis. Something caused some of those people with polio to get scoliosis, but not all of them. The same thing could be happening with another virus or bacteria out there.

And then there could be people who have genetically caused scoliosis that was small and unnoticeable, who get exposed to that infectious agent(s), and that causes their scoliosis to progress and become noticeable.

Plus there are other things that could cause scoliosis also, who knows?

That could help explain the muddle of findings in these studies.

I agree with Dingo that the study posted by PNUTTRO of the twins at the Hawaiian army base would need to look at twins that had lived apart to actually say definitively that their scoliosis wasn't triggered by an infectious agent....and there certainly aren't going to be enough of those cases to study!

I agree with Sharon that LOTS of families won't know their extended families medical stories. I'm sure that is very common.

I also agree with PNUTTRO that people should save their money on the Scoliscore test...

So hey, I'm in agreement with all of you! :D

Dingo
11-17-2009, 09:23 PM
BalletMom

Rare types of Scoliosis could easily be genetic. Here is a list of known genetic disorders. Wikipedia: List of Genetic Disorders (http://en.wikipedia.org/wiki/List_of_genetic_disorders)
If you check out the prevalence on any of the dangerous, childhood disorders only a handful are more common than 1 in 10,000. Many have a prevalence of 1 in hundreds of thousands or even millions!

If my memory serves me correct only about 1 in 2,000 children have a curve greater than 20 degrees. That's probably too common to be genetic but it's at the edge of the ballpark. If you followed the general rule of thumb (1 in 10,000 or less) maybe 1 in 5 of these severe curves are genetic.

In theory they might all be genetic but that would make Scoliosis an exception outside the general rule of thumb that childhood, genetic diseases are kept rare by natural selection.

Dingo
11-17-2009, 09:42 PM
Concerned Dad


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?

I thought about this today and I've got an answer. The Scoliscore doesn't predict which child will get Scoliosis, it predicts which child with Scoliosis will suffer curve progression. It's not meant to be tested on healthy children who don't have the neurological disorder that sets Scoliosis in motion. If you had identical twins, 1 with the disease and 1 without the results wouldn't apply to the healthy twin.

That's how they can claim 99% accuracy even though identical twins might be much less than 99% concordant for Scoliosis.

concerned dad
11-19-2009, 02:03 PM
Good point.
ANother point is this:

Regarding the 99% accuracy. The test tells someone their probability of progressing.
So, (making numbers up here) say a scolioscore of 50 indicates a 20% risk of progressing, BUT, you still progress. Did the test fail?

No. Because it predicted you had a 1 in 5 chance of progressing.

So, What exactly does the 99% refer to? Using Sharons favorite "error bar" approach, it means the child has between a 19% and 21% risk of progressing to 50 degrees. It is not a measure of the binary event (Will that particular child progress to 50 degrees - yes/no).

Sort of limits the usefullness I suppose.
But this whole thing is a crap shoot - knowing the odds may help make a decision.

I think it is potentially much more useful if they used this data for bracing studies. (comparing similar genotypes). But, there is no money in that.

Dingo
11-19-2009, 05:11 PM
concerned dad


So, (making numbers up here) say a scolioscore of 50 indicates a 20% risk of progressing, BUT, you still progress. Did the test fail? No. Because it predicted you had a 1 in 5 chance of progressing.

Wow, I hadn't thought of that. Hmmmmmmm... if that's the way it works I think I might save the $2,500.

PNUTTRO
11-19-2009, 08:01 PM
Good point.
ANother point is this:

Regarding the 99% accuracy. The test tells someone their probability of progressing.
So, (making numbers up here) say a scolioscore of 50 indicates a 20% risk of progressing, BUT, you still progress. Did the test fail?

No. Because it predicted you had a 1 in 5 chance of progressing.

So, What exactly does the 99% refer to? Using Sharons favorite "error bar" approach, it means the child has between a 19% and 21% risk of progressing to 50 degrees. It is not a measure of the binary event (Will that particular child progress to 50 degrees - yes/no).

Sort of limits the usefullness I suppose.
But this whole thing is a crap shoot - knowing the odds may help make a decision.

I think it is potentially much more useful if they used this data for bracing studies. (comparing similar genotypes). But, there is no money in that.

You actually hit on a great point. Its a RISK score. Its the same problem with genetic testing. Risk scores are hardly ever comforting or meaningful to the patient because a patient doesn't care about what normally happens. A person only cares about what will happen to me.


p

Dingo
11-19-2009, 10:17 PM
I wonder what the test actually measures. I've read over and over that tall people are at a much greater risk for curve progression. Here is a mention from the Jamaican study.

Observations on idiopathic scoliosis aetiology and natural history in Jamaica (http://bases.bireme.br/cgi-bin/wxislind.exe/iah/online/?IsisScript=iah/iah.xis&src=google&base=MedCarib&lang=p&nextAction=lnk&exprSearch=5672&indexSearch=ID)


It was found that the idiopathic scoliosis patient was consistently above the average height for her age group and that the normal growth spurt appeared earlier in the idiopathic group than in other children.

Height seems to be a risk factor for curve progression and might be an important trait that Scoliscore looks for.