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Thread: DNA test for scoliosis

  1. #61
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    Siblings, yes. Any further, NFW. No cousins, no aunts, not uncles, etc.
    Sharon, mother of identical twin girls with scoliosis

    No island of sanity.

    Question: What do you call alternative medicine that works?
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    "We are all African."

  2. #62
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    not credible

    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.
    Last edited by Dingo; 11-16-2009 at 08:12 PM.

  3. #63
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    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.
    Sharon, mother of identical twin girls with scoliosis

    No island of sanity.

    Question: What do you call alternative medicine that works?
    Answer: Medicine


    "We are all African."

  4. #64
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    siblings

    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?

  5. #65
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    “I know that I am intelligent, because I know that I know nothing.” ~Socrates
    Sharon, mother of identical twin girls with scoliosis

    No island of sanity.

    Question: What do you call alternative medicine that works?
    Answer: Medicine


    "We are all African."

  6. #66
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    Quote Originally Posted by Dingo View Post
    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.

  7. #67
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    62.5%

    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 the following paper might be relevant.

    2000: Osteopontin Expression Correlates with Clinical Outcome in Patients with Mycobacterial Infection

    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.

  8. #68
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    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.
    Sharon, mother of identical twin girls with scoliosis

    No island of sanity.

    Question: What do you call alternative medicine that works?
    Answer: Medicine


    "We are all African."

  9. #69
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    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!

  10. #70
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    generally speaking...

    BalletMom

    Rare types of Scoliosis could easily be genetic. Here is a list of known genetic disorders. Wikipedia: 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.
    Last edited by Dingo; 11-17-2009 at 09:55 PM.

  11. #71
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    twins

    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.
    Last edited by Dingo; 11-17-2009 at 09:46 PM.

  12. #72
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    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.

  13. #73
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    hadn't thought of that

    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.

  14. #74
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    Quote Originally Posted by concerned dad View Post
    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

  15. #75
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    What is the test actually measuring?

    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

    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.
    Last edited by Dingo; 11-19-2009 at 10:22 PM.

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