How many of you have more than 1 child with Scoliosis?

[MJB]

I have a baby girl that is 7 months, when I was pregnant with her I had a comment that because I was having another girl, that she would most likely have Scoliosis too. I do know it's hereditery, it's in my DH's family but I am wondering how common it is for siblings to have it. My older daughter had juvenile scoliosis, so I will be looking out for it early on with my youngest.

[rohrer01]

I have two boys and one girl. My daughter has very mild scoliosis. One son had what appeared to be juvenile, but is straight as an arrow now, so guess he outgrew it. I have curves of 46* and 38*.

[Pooka1]

I have identical twins both with scoliosis but different curve types within the thorax.

[Pooka1]

The risk is small but there because of the genetic nature of idiopathic scoliosis...

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2674301/



How “Genetic” is IS Compared to other Common and Complex Diseases?

Familial risk values may be used to estimate and compare the genetic effects across diseases. Prior sibling risk studies of IS have reported 19% and 11.5% of siblings affected for ≥ 10, ≥ 20-degree curves, respectively, compared to population recurrence risks of ≤ 2% [23, 33, 34]. In a cohort of 305 IS families we found 16% of siblings affected (unpublished data) and compared these numbers to the incidence of IS in the general population in order to estimate the sibling risk ratio (λs) for IS. This yielded overall λs values ranging from 8-23, dependent on curve severity. These values represent significant genetic effects that are comparable to those for other well-described complex genetic diseases such as rheumatoid arthritis (RA), Crohn’s disease (CD), type 1 diabetes (T1D), or psoriasis (Table 1). The possibility of a major gene contributing to IS, analogous to human leukocyte antigen (HLA) genes in the listed inflammatory diseases, has been suggested but remains unproven [39].

Another reference says fraternal twins (= any sibling-sibling pair) both have scoliosis about 1/3 of the time and identical twins have scoliosis about 75% of the time essentially proving the genetic etiology.

[ddb]

Two girls both Adolescent onset

Dee

[Ballet Mom]

Another reference says fraternal twins (= any sibling-sibling pair) both have scoliosis about 1/3 of the time and identical twins have scoliosis about 75% of the time essentially proving the genetic etiology.

This may say something about those with familial scoliosis, i.e. scoliosis where you have other family members with scoliosis, it does not necessarily say anything at all about those with adolescent idiopathic scoliosis where there is no close familial relationship. It is known as idiopathic scoliosis for a reason.

[Pooka1]

This may say something about those with familial scoliosis, i.e. scoliosis where you have other family members with scoliosis, it does not necessarily say anything at all about those with adolescent idiopathic scoliosis where there is no close familial relationship. It is known as idiopathic scoliosis for a reason.

Idiopathic doesn't mean not genetic.

All idiopathic scoliosis is genetic.

You continue to be confused on this point.

[Ballet Mom]

Idiopathic doesn't mean not genetic.

All idiopathic scoliosis is genetic.

You continue to be confused on this point.

If ballet students develop scoliosis, is it caused by the ballet or is it caused by their lax joints? Do rhythmic gymnasts typically develop left lumbar curves, and ballet students develop right thoracic curves due to their genetics or their sports? Would they have developed scoliosis if they hadn't participated in those activities?

If it turns out that a virus such as chickenpox actually turns out to be the trigger for scoliosis, does that make scoliosis genetic? Do you know for a fact that scoliosis is not caused by a some sort of organism?

Is the DNA of an older mother necessarily aged genetic material that causes scoliosis in their kids or might it have other causes such as nerve damage at birth from more difficult deliveries?

If a genetic predisposition is all that is necessary to call the etiology of a disease genetic, I guess probably most conditions and illnesses can be considered genetic. And I don't believe they are.

[Pooka1]

You were the one who first posted the 2009 POSNA special symposium on IS.

Review the talk on top theories of IS. He starts with a comment that it's all genetics. Think about why he said that. The clue is in the theories on the table that the researchers are investigating.

There is a consensus in the community on this. Denying that a consensus exists is equivalent to denying the consensus on the fact of evolution and the fact of an old earth.

Read the article that was posted upthread.

[Ballet Mom]

You were the one who first posted the 2009 POSNA special symposium on IS.

Review the talk on top theories of IS. He starts with a comment that it's all genetics. Think about why he said that. The clue is in the theories on the table that the researchers are investigating.

There is a consensus in the community on this. Denying that a consensus exists is equivalent to denying the consensus on the fact of evolution and the fact of an old earth.

Read the article that was posted upthread.

"The word "idiopathic" means "cause unknown". Another word for the underlying cause of a disease or condition is etiology. There are many theories about the etiology of adolescent idiopathic scoliosis (AIS) but no clear single cause. Most experts consider AIS to have multiple linked causes including genetics, environment and lifestyle, and nervous system dysfunction with biologic and hormonal influences."

http://www.eorthopod.com/content/is-bracing-for-scoliosis-effective

[Pooka1]

You are not using those words as the researchers use them.

Denying the genetics of IS is equivalent to being a flat-earther.

[Ballet Mom]

You are not using those words as the researchers use them.

Denying the genetics of IS is equivalent to being a flat-earther.

Simply astonishing.

[Pooka1]

Simply astonishing.

That's what all the flat-earthers say in response. Besides the pouting of course.

[Pooka1]

http://www.eorthopod.com/content/is-bracing-for-scoliosis-effective

emphasis added


Before we look at how surgeons decide to use bracing, it should be pointed out that when asked why surgeons use bracing without convincing evidence that it works, there is agreement that the chance to reduce the risk of needing surgery is worth the effort.

Is this not EXACTLY what I have been banging on about? It this not EXACTLY what I have been saying?

Sponseller and others may think it works in some cases but no competent, sane surgeon claims there is good evidence it works. And Sponseller is admitting EXACTLY that. This is medicine and science and must be that way.

That is my entire point. Bracing may work in some cases. This research is so hard that I can well imagine a (small) population out there who might avoid surgery, perhaps for life with the right brace at the right time with full compliance. But there is a huge false positive signal here (~3/4 of the braced kids) that has to be dealt with.

And when talking about making baby kids wear a hard 23 h/d brace, you can't just KNOW it, you have to SHOW it in my opinion. Sponseller claims it's still worth a try. Other surgeons disagree. When you see opinions all over the map like that it is proof the jury is still out.

[Pooka1]

Another quote...


Dr. Sponseller concludes by reminding us that there is some evidence that bracing can be effective. But it is unpredictable as to how much or who might benefit the most (or at all).

I suggest he is probably (mostly?) referring to the 2010 Katz et al. article here.

Is this not EXACTLY what I said about Katz et al. (2010)? That there is a small signal that is completely swamped out by the variability such that you can never predict what will happen in an individual case?

I am not clairvoyant. Scoliosis is completely outside my field but everyone, myself and these scoliosis researchers, are all dealing with the same principles of science. Science is a hard game, especially in medicine where hands are tied and you almost can't do an adequately controlled study. My hat is off to all these guys who at least try and salvage what they can. It's straight up courage to do this research in the face of that.

[Ballet Mom]

That's what all the flat-earthers say in response. Besides the pouting of course.

And you consider yourself a scientist? LOL.

[Ballet Mom]

emphasis added



Is this not EXACTLY what I have been banging on about? It this not EXACTLY what I have been saying?

Sponseller and others may think it works in some cases but no competent, sane surgeon claims there is good evidence it works. And Sponseller is admitting EXACTLY that. This is medicine and science and must be that way.

That is my entire point. Bracing may work in some cases. This research is so hard that I can well imagine a (small) population out there who might avoid surgery, perhaps for life with the right brace at the right time with full compliance. But there is a huge false positive signal here (~3/4 of the braced kids) that has to be dealt with.

And when talking about making baby kids wear a hard 23 h/d brace, you can't just KNOW it, you have to SHOW it in my opinion. Sponseller claims it's still worth a try. Other surgeons disagree. When you see opinions all over the map like that it is proof the jury is still out.

Number one, major spinal surgery has risks associated with it, as you well know from seeing the disastrous results for some people. That is why there is agreement that the chance to reduce the risk of needing surgery is worth the effort. even by surgeons. If a surgeon doesn't think it's worth avoiding that risk, if at all possible, I'd call that hubris.

Number two, the fact that Americans do not get very good bracing results is not surprising to me IN THE LEAST. Even in the studies they do, they stop bracing their patients at 18 months post menarche when it's been proven even growth after Risser 5 occurs. I think it's appalling that American surgeons put these kids in braces for such a short time period and then after all that effort leave them to continue to progress after weaning them from the brace. That's what I think is appalling. Spinekids is full of them.

[Pooka1]

I think the chance of someone thinking 23 h/d bracing is worth a try absent convincing evidence is much higher in the population who DOESN'T have to wear the brace than in the population that does have to wear the brace.

This is why we hear the comment from time to time that bracing is for the parents and not the kids.

It is not contestable at this point that most braced kids are braced needlessly. I mean you can contest it but that would be as perverse as contesting the fact of evolution and a ~4.55 billion year old earth and an oblate spheroid earth.

[Pooka1]

Some recent examples of how researchers and bunnies use terms...

"environmental" factors in IS.

Bunnies: "environmental" = germ theory and sun exposure

Researchers in this field: "environmental" = maternal age and hormone levels at puberty.

There are occasional papers where researchers use "environmental" in the bunny sense (I saw one that called earth latitude an environmental factor) so there is some grounds for confusion about this. But most of the uses I think we have come across in this sandbox of researchers using the term, it is obvious it doesn't mean what the bunnies mean.

Same with "multifactorial" which is most often used as a mode of GENETIC inheritance as far as I can tell, NOT to mean germs plus genes. But again, you can probably find some sloppy usage by researchers that only serves to confuse us bunnies further.

The researchers get to define the terms and the bunnies must fall in line. That's the rule.

[Ballet Mom]

Let's just be clear. NO ONE is forcing anybody to brace their kids.

You must be an "environmental scientist". All politics and not much science.

[hdugger]

Multifactorial, even as used by the scientific community, means a complex combination of many genes plus environment, often a genetic predisposition that will not be expressed unless certain environmental conditions exist. Examples include most common disease conditions: heart disease, cancer, or, for our purposes, scoliosis.

(In contrast, a disease with multiple *genetic* factors (but no environmental factors) is termed polygenic.)

A quick google confirms this definition.

From the NIH - (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/complexdisorders) "Researchers are learning that nearly all conditions and diseases have a genetic component. Some disorders, such as sickle cell anemia and cystic fibrosis, are caused by mutations in a single gene. The causes of many other disorders, however, are much more complex. Common medical problems such as heart disease, diabetes, and obesity do not have a single genetic cause—they are likely associated with the effects of multiple genes in combination with lifestyle and environmental factors. Conditions caused by many contributing factors are called complex or multifactorial disorders."

From the center for genetics education -
(http://www.genetics.com.au/pdf/factsheets/fs11.pdf)
"Multifactorial inheritance refers to the pattern of inheritance of common health problems and rarer conditions caused by
a combination of both genetic and other factors that may include internal factors such as ageing and exposure to external
environmental factors such as diet, lifestyle, and exposure to chemicals or other toxins
• Multifactorial conditions have in common that they do not always develop despite the suggested presence of a faulty gene(s)
• The inherited faulty gene(s) make the person predisposed ie. at increased risk for developing the condition but unless other
factors are present, the condition may never develop at all"

Or, if you like your general reference work, from the brittanica
"human genetic disease (in human genetic disease: Diseases caused by multifactorial inheritance)
Genetic disorders that are multifactorial in origin represent probably the single largest class of inherited disorders affecting the human population. By definition, these disorders involve the influence of multiple genes, generally acting in concert with environmental factors. Such common conditions as cancer, heart disease, and diabetes are now considered to be multifactorial disorders...."

This is the same definition used by the Scoliscore folk.

If there's an alternate definition of the term, it's not easily googable - I've been through two pages of links, and variations of this definition are the only ones I find.

I now return you to the fight without end.

[Lilysaidwhat]

*tiptoes in*

I don't have kids, but for the OP (Original Poster), once my scoli was discovered at age 9, they tested my sister who is 4 yrs my senior. She too has it. So does my mom. So do all the women on my mom's side. I'm the only one who drew the short straw.

My parents opted for the brace and I am glad they did. I truly believe that I made the best choices I could - as did my parents - up through today with the maintenance of my back. Had I done the surgery at age 9, what would have become of me? This was the Harrington Rod period and that was the suggested surgery then. Yes I did 4 years of braces, 3 of which were in the horrifying Milwaukee, and I did end up with fusion surgery - but not until age 38. Could I have waited a few more years? Yes, but it fits my life better now than later as we want to adopt and I want to be able to lift my babies. I couldn't do that at the point I had reached (bend and lift more than about 5 lbs) pre-op. It is my hope that my life will get back to a better than prior "normal" once I've fully recovered from this surgery.

My sister has a 40* upper and 20* lower. She's never had a day of pain from scoliosis, never wore a brace, nothing. I think that's the way with most.

Anyhow, that's my contribution here.

[Pooka1]

@Lilysaidwhat, that is an excellent contribution.

The problem we continually run into on this group is that while folks are entitled to their own opinions, they are NOT entitled to their own facts. Folks struggle with this because society provides cover for such behavior in other venues. So it bleeds into venues where the rubber meets the road like with serious medical issues. This is the liability of countenancing counterfactual nonsense in some areas.

[hdugger]

Thanks, Lily (and I'm really glad your surgery worked out so well, other than the idiot brace fitter).

There's a small subset of posters on the board who have what seems like a strong familial form of scoliosis. Roher01 in her family, you in yours, and a few others. I suspect the same thing is going on in my brother-in-law's family - his daughter (my niece) and his daughter's daughter, both the only girls, both have scoliosis.

For most of the posters on the board there's a far less obvious family link. I think it's there (because it seems like there's some genetic contribution for just about every common disease), but just to address the maybe implied question from the original poster, I think there's a very good chance that if you have one child with scoliosis you won't have a second child with it.

If your child has congenital scoliosis (instead of idiopathic), there's no known genetic contribution at all.

I don't know if the genetic link is stronger or weaker in cases of juvenile or infant scoliosis - maybe someone with kids in those onset ages will know.

[Pooka1]

http://journals.lww.com/jspinaldisorders/abstract/1991/09000/_mirror_image__congenital_scoliosis_in_siblings.15 .aspx

Journal of Spinal Disorders:

"Mirror Image" Congenital Scoliosis in Siblings

Abstract

Summary: Congenital scoliosis, which is caused by isolated anomalies (as opposed to multiple spinal anomalies and myelomeningocoele), is usually a nonfamilial condition. In rare instances, however, a congenital spine deformity is genetically determined. We herein report a brother and sister with a nearly identical "mirror image" congenital lumbar scoliosis. We conclude that the presence of a congenital spine deformity necessitates the screening of other siblings for a similar anomaly.

[Pooka1]

http://www.orthojournalhms.org/volume8/manuscripts/ms04.htm


Molecular Basis of Human Vertebral Segmentation Defects

This project is a pilot study being conducted by Children’s Hospital-Boston and the Stowers Institute for Medical Research and will help facilitate research on vertebral segmentation defects. The major goals of this project are to: (1) identify genes associated with congenital scoliosis by sequencing genes known to be associated with vertebral anomalies in mouse models, (2) explore the environmental exposure and familial history of children with severe congenital scoliosis, (3) evaluate the association between Delta-like 3 and MESP2 mutations and Jarcho-Levin syndrome in sporadic cases (non-familial cases) and severe cases of congenital scoliosis, and (4) identify mutations in newly identified genes involved in somitogenesis in mouse and chick embryos in severe cases of congenital scoliosis.

Apparently, it is "all genetics."

[Pooka1]

http://web.jbjs.org.uk/cgi/reprint/50-B/1/24.pdf

(emphasis added)


1 . Idiopathic scoliosis is a familial condition.

2. The findings suggest either dominant or multiple gene inheritance, but a larger series is
needed before a firm conclusion can be drawn.

The word, "familial" is also a major stumbling block in this sandbox. I have posted several references indicating that researchers call "idiopathic scoliosis" "familial" whereas a few references use the term, "familial" to denote the autosomal dominant inheritance pattern. Using it in the latter sense in no way means that the cases that do not appear to be inherited in an autosomally dominant fashion are not also genetic.

Last, "isolated" IS cases must correctly be termed "apparently isolated" unless they radiographed every relative, living and dead. It is arguable that that has never been done.

To the OP, the chances are low that a sibling will be affected unless speaking about identical twins where the concordance is ~75%.

[hdugger]

Here's a good summary from a 2003 book called Abnormal Skeletal Phenotypes that describes two forms of scoliosis - a multi-factorial form and an autosomal form.

"Most specialists tentatively assume a multifactorial inheritance, with a genetic tendency to the deformity that is triggered in different indiviudals by different external factors. A familial autosomal dominant form of scoliosis has been mapped to chromosome 17."

This jibes pretty well with what I see on the forum - a large group with scoliosis who may or may not have a scattering of relatives with scoliosis, and a smaller group with a clear family inheritance. I actually didn't know the stronger genetic form had been mapped to a specific chromosome.

I kind of wonder, then, why people with a clear genetic inheritance are lumped in with the idiopathic group, since it seems like the cause of their scoliosis *is* known. The only people who I'd consider to be idiopathic are that larger group where they have some tendency towards the disease, but where the environmental trigger that pushed them over the edge is unknown.

[Ballet Mom]

Here's a good summary from a 2003 book called Abnormal Skeletal Phenotypes that describes two forms of scoliosis - a multi-factorial form and an autosomal form.

"Most specialists tentatively assume a multifactorial inheritance, with a genetic tendency to the deformity that is triggered in different indiviudals by different external factors. A familial autosomal dominant form of scoliosis has been mapped to chromosome 17."

This jibes pretty well with what I see on the forum - a large group with scoliosis who may or may not have a scattering of relatives with scoliosis, and a smaller group with a clear family inheritance. I actually didn't know the stronger genetic form had been mapped to a specific chromosome.

I kind of wonder, then, why people with a clear genetic inheritance are lumped in with the idiopathic group, since it seems like the cause of their scoliosis *is* known. The only people who I'd consider to be idiopathic are that larger group where they have some tendency towards the disease, but where the environmental trigger that pushed them over the edge is unknown.

Thank you hdugger. That is what I have observed also.

Of course, I'm still open to the possibility that it might be genetic in some way. LOL. It is, however, idiopathic until they actually find a decisive connection.

VERY INTERESTING about the relationship with chromosome 17. I just looked it up and one of the genes located on this chromosome is RAR-Alpha retinoic acid receptor! Remember my daughter's apparent central nervous system issues with balance were favorably impacted by the retinoid isotretinoin? And I posted that study that showed that retinol (I think) repaired spinal defects in-utero? I'll have to look at the other thread tomorrow when I have more time but that is rather exciting perhaps. Perhaps there is a connection to retinoids and scoliosis. Retinoids affect the Hox genes in embryological development, perhaps they affect some sort of spinal growth or central nervous system function during adolescence too. Ehlers Danlos syndrome is associated with chromosome 17 also.

"Retinoids

Several retinoids can act on activation/repression of Hox- and related genes. These retinoids include All-trans-retinoic acid; 11-cis-retinoic acid and retinol as metabolite of the retinoic acid. "

http://www.iephb.nw.ru/labs/lab38/spirov/hox_pro/rar.html

Hox genes are a group of related genes that specify the anterior-posterior axis and segment identity of metazoan organisms during early embryonic development. These genes are critical for the proper placement of embryonic segment structures (such as legs, antennae, and wings in fruit flies or the different vertebrate ribs in humans)

[hdugger]

Also to clarify, multi-factorial diseases include a broad array of the non-genetic factors. That is, environment is in no way narrowly defined - it can include anything that's not genetic, such as toxins, diet, exercise, etc. For examples, see the multifactorial definitions quoted above

Heart disease is a good example of what scientists mean when they say multi-factorial. Yes, there's a genetic component (because pretty much anything that didn't just occur in the womb is likely to have a genetic component), but there's a host of other factors that contribute to it - diet, stress, exercise, disease, etc.

*****

I do understand that repeatedly posting these clarifications makes no differences whatsoever, and that the endless fight has nothing whatsoever to do with genetics (multifactorial or otherwise) or bracing, or religion, or Justin Bieber, or whatever today's point of contention is. But every month or so I just feel so darn hopeful that clarifying a term or two will really, really *work* this time :)

[hdugger]

Drifting slightly off-topic, in one of the references I looked at about multifactorial diseases, they talked about them being more likely to occur in one gender or the other. In families where a member of the less-affected gender had the disease, there was a higher risk of it showing up in other family members.

Ah, here's the text itself:

"The disease occurs more frequently in one gender than in the other, but it is not a sex-limited trait. In addition, first-degree relatives of individuals belonging to the more rarely affected gender have a higher risk of bearing the disease (International Commission on Radiological Protection, 2000)."

http://www.nature.com/scitable/topicpage/multifactorial-inheritance-and-genetic-disease-919

So, a male with scoliosis (but not congenital scoliosis) is more likely to have relatives with scoliosis. At least, according to this.

[Ballet Mom]

http://web.jbjs.org.uk/cgi/reprint/50-B/1/24.pdf



What do you feel about these two findings of the author's?

6. Mental defect and epilepsy are the commonest findings associated with scoliosis.

7. In adolescent scoliosis the age of the mother is significantly raised by comparison with the expected figure for the normal population.

Mental defect and epilepsy the most common findings associated with scoliosis? Really?

Next.

Let's see. Only 25 percent of the cases of scoliosis in this study had any family member with scoliosis...checked out to the third degree relatives. Does that necessarily mean the other 75 percent are familial?

I also notice that the author excluded anyone that didn't have a rib hump. Has the author then excluded some of the potentially non-familial cases of scoliosis? None of the girls I've seen with scoliosis in ballet have rib humps. Shoulder blades can stick out a bit more than the other, but no rib hump. I can see sharp curves in the spine of one girl and yet when she bends over...no hump. I have assumed it was due to all the stretching they do but perhaps they simply have a different type of scoliosis. My daughter had a small rib hump when first diagnosed, but it has disappeared. Was it 30 percent of professional ballerinas have scoliosis? And yet, they wouldn't be hired if they had a rib hump these days. There was a story of a ballerina who had a fifty+ degree curve and didn't even know she had scoliosis! That could only happen if she didn't have a rib hump. I'm sure these girls would be glad to know they don't have structural scoliosis or idiopathic scoliosis. Perhaps they could be hypnotized or anesthetized and their curves would go away!

Until scientists can show the genes that are causing the scoliosis in the 75 percent of scoliosis patients that don't have family members with scoliosis, it seems to me they are simply assuming and the cause remains idiopathic. Most diseases and conditions have genetic predispositions to them.

[Ballet Mom]

Drifting slightly off-topic, in one of the references I looked at about multifactorial diseases, they talked about them being more likely to occur in one gender or the other. In families where a member of the less-affected gender had the disease, there was a higher risk of it showing up in other family members.

Ah, here's the text itself:

"The disease occurs more frequently in one gender than in the other, but it is not a sex-limited trait. In addition, first-degree relatives of individuals belonging to the more rarely affected gender have a higher risk of bearing the disease (International Commission on Radiological Protection, 2000)."

http://www.nature.com/scitable/topicpage/multifactorial-inheritance-and-genetic-disease-919

So, a male with scoliosis (but not congenital scoliosis) is more likely to have relatives with scoliosis. At least, according to this.

According to the Ruth Wynne-Davies study linked above:

The male and female relatives of male
and female index cases were analysed separately,
because the sex incidence is unequal
in both early and late onset groups. The
results indicated only that the groups in
which scoliosis is commoner (infant boys
and adolescent girls) had more affected
relatives than those in which it is less
common (infant girls and adolescent boys).

There was an approximately equal incidence amongst
parents, siblings and children population and among, the relatives of scoliotic
patients. (3 per cent, 5 per cent, 5 per cent).

[Pooka1]

Until scientists can show the genes that are causing the scoliosis in the 75 percent of scoliosis patients that don't have family members with scoliosis,]

They can't just know that no other family members have it. They have to show it. They have to radiograph every member, living and dead. I suggest that has never been done. Do you disagree? Really?

The main conclusion from these threads is that it is obvious that it is impossible for bunnies to sort out the terminology when various researchers are clearly using these terms to mean different things at different times. I am very sure the great run of players here simply do not realize this is happening as evidenced by the posts above.

I can post references with at least TWO entirely different meanings of "environmental," "multifactorial," and "familial." At this point, the honest way forward is to admit there is multiple usages and to try to figure out which is which when they are used. I suggest there is nobody in this sandbox who can do this because there is nobody who is familial enough with the body of the literature. This is beyond obvious at this point.

Taking the 2009 talk about the top hypotheses (these are not yet theories in my opinion and the author admits that), if you ask what are these guy researching in the way of etiology of idiopathic scoliosis, it is all straight genetics or stuff modified by genetics. That is why he started the talk with the comment, "It's all genetics." Note also no mention of the germ theory of scoliosis.

From the 2008 Wise et al. article, the consensus of the researchers is that IS is a complex genetic condition. You might also note that neither this paper nor do the great run of papers make a distinct between the autosomal dominant form and the rest. Think about the reason for that. Because the presentation of the cases in the autosomal dominant group are identical as far as anyone knows to the other cases, it appears to all be the same thing with some looking like autosomal dominant inheritance at one end and some looking like complex multifactorial genetic inheritance at the other.

While one might disagree with IS being a complex genetic condition, it is perverse to deny the researchers working in this field don't have a consensus that it is a complex genetic condition. That why I can safely put the genetics deniers in with the flat earthers, evolution deniers, old earth deniers where consensuses exist there also.

[Pooka1]

I kind of wonder, then, why people with a clear genetic inheritance are lumped in with the idiopathic group, since it seems like the cause of their scoliosis *is* known.

This is another example of how bunnies cannot wrap their minds around something "idiopathic" STILL having a consensus of researchers claiming it is genetic. This could be the textbook example of that because it pops up so frequently.

This is why when a researcher reads "environmentaL" they think epigenetics or maternal age or hormone milieu whereas a when a bunny reads, "environmental" they think tse tse flies and slouching. Communication is impossible under those circumstances.

The fact that us bunnies have to wonder about issues like this helps define the huge gulf between the bunnies and researchers. What is mysterious to us is simply accepted consensus among the researchers. There are no internal inconsistencies on this point of idiopathic being genetic if you know the field.

Last, I suggest there are parallels to be drawn between the threads on terminology in this forum and Feynman's comment about quantum mechanics, "If you think you understand quantum mechanics, you don't understand quantum mechanics".

[Ballet Mom]

Let's just stipulate that a genetic predisposition occurs in almost all diseases and conditions and therefore we need to call most diseases multifactorial and genetic. That's a very helpful term to let everyone know that the researchers don't know the cause because it's complex. When Carol Wise can show that the gene she's discovered is causing scoliosis, I'll be impressed. And when she can run a test and show it causes scoliosis on all the cases of scoliosis without family members having scoliosis I'll be duly impressed.

Until then 53 genes that may or may not show the tendency to progress in scoliosis does not show that genetics is causing scoliosis.

[hdugger]

The research I read when I was looking up multi-factorial definitions described it as a continuum (and the Scoliscore seems to bear it out). With only a few genes "turned on" (or however we want to imagine it) you'd have to have alot on the environmental side to push you over the edge. The more genes you have turned on, the easier it is to get pushed over the edge. If they're all on, you're almost certain to tip over the edge and show the disease.

One disease where you can really see this is heart disease (since we know so much about both the way the genetic and the environmental parts work). There's an "all genes on" condition where you process tons of cholesterol, no matter what you try to do to lower it. (It's a condition my niece has.) So, if she gets heart disease, it's really genetically caused - she's just built in such a way that heart disease is almost unavoidable. On the other side of the spectrum, you could imagine someone with a very low genetic tendency to get heart disease who then gets zero exercise and eats tons of fat. If this person gets heart disease, it's almost entirely environmental. And there are points all along the scale and exceptions to the rule - people with strong genetic predispositions who dodge the bullet, and people with very low predisposition who get the disease.

The Scoliscore test maps out the same thing. There are all those people with low scores who don't advance, and all those people with high score who do. And then there are a bunch of people in the middle where you really can't predict which way they'll go. Throw into that mix that are are (presumably) people in the general population with all the genes "turned on" who never show any sign of scoliosis.

And that's why they call it complex. For some people, like Roher01 and Lilysadiwhat's family, it's likely that they their triggers were mostly (although not exclusively) genetic. For people with no close relative with scoliosis, it's likely that their triggers are mostly (but not exclusively) environmental.

That's why this argument seems so pointless. You'd have to be talking about a specific case, and have all of the data in front of you, to even hazard a guess about whether the cause was largely genetic or largely environmental. If you're talking generally, the only thing you can see is "it's complex." And that's exactly what the people who do genetic research into scoliosis *do* say - it's complex (i.e., multifactorial). Throwing yourself to either the genetic or the environmental side puts you out of sync with the researchers in the field.

[Ballet Mom]

I'll agree with you that it is pointless.

I will wait patiently to have researchers prove that genes are what is causing all cases of idiopathic scoliosis.

[hdugger]

The genes underlie it, just as they underlie almost all disease. Pale people with freckles (genetic) get skin cancer (disease) when exposed to a bunch or sunlight (environment). Likewise in scoliosis, thin hyperflexible people (genetic) get scoliosis (disease) when exposed to who-knows-what (environment). Or whatever the genetic basis is.

So, they can show that there's a genetic component now (again, as they can in almost every disease condition). They can't say anything very intelligent about it, and they can't predict the course of the disease except on the very tips of the genetic scale, but they can show that it exists.

If there were more money in non-genetic research (which there's not, because genetics are kind of a medical fad at the moment) they could try to get the same kind of specificity on the environmental factors which actually *trigger* the disease (as opposed to the genetic factors, which appear to only determine progression once the disease is triggered). That would be useful info - if, you know, someone could get money to research it. Which they can't. But, if they could, they could maybe keep the disease from happening altogether. Again, too bad there's not any money for that.

[Ballet Mom]

The genes underlie it, just as they underlie almost all disease. Pale people with freckles (genetic) get skin cancer (disease) when exposed to a bunch or sunlight (environment). Likewise in scoliosis, thin hyperflexible people (genetic) get scoliosis (disease) when exposed to who-knows-what (environment). Or whatever the genetic basis is.

So, they can show that there's a genetic component now (again, as they can in almost every disease condition). They can't say anything very intelligent about it, and they can't predict the course of the disease except on the very tips of the genetic scale, but they can show that it exists.

If there were more money in non-genetic research (which there's not, because genetics are kind of a medical fad at the moment) they could try to get the same kind of specificity on the environmental factors which actually *trigger* the disease (as opposed to the genetic factors, which appear to only determine progression once the disease is triggered). That would be useful info - if, you know, someone could get money to research it. Which they can't. But, if they could, they could maybe keep the disease from happening altogether. Again, too bad there's not any money for that.

Exactly right.

[Pooka1]

Let's just stipulate that a genetic predisposition occurs in almost all diseases and conditions and therefore we need to call most diseases multifactorial and genetic.

Let's instead just stipulate that the consensus of the researchers in IS are working on the hypothesis that IS is a complex genetic condition and that bunnies are bunnies.

And speaking of multifactorial, when used in this type of construction, if I recall correctly, researchers mean things like variable penetrance (a genetics concept) and heterogenicity (yet another genetics concept). You can also probably find some IS researchers using "multifactorial" to mean other things besides modes of inheritance but I haven't come across that yet.

So as far as I can tell, when researchers who study IS talk about the etiology of IS as being "multifactorial", they are referring to types of genetic inheritance. Posting general definitions of these terms outside of their specific instance usage is less than useful obviously.

[Ballet Mom]

Until researchers prove that all cases of idiopathic scoliosis are genetically inherited, idiopathic scoliosis remains idiopathic.

I'm not sure why you continue to insist that something is proven when it isn't.

[Pooka1]

The fact that you think I am claiming something is proven (beyond what the consensus is of the research community which isn't really rocket surgery to "prove") tells me you aren't following along.

Among researchers, if there is a consensus, it is based on where the evidence is leading.

Among bunnies, denials of facts or of research consensus are based strictly on emotion and lack of relevant training.

What I have learned from these interminable threads is there is a strong emotional reason to deny that the scientific community is focusing on the genetics w.r.t. idiopathic scoliosis. It is exactly analogous to denying evolution or an old earth or the roundness of the earth.

That, in a nutshell, sums up the unnavigable divide between the scoliosis researchers and the bunnies. I am one bunny who has no opinion about the research directions because... wait for it... this isn't my field. How other bunnies can have an opinion borders on the comical.

That is not to say I can't figure out what the research direction is. In this case, we have a recent talk from a researcher (Jack Cheng) whose research group is clearly involved in several lines of inquiry working with several other research groups from around the world. If he sums up the current research directions, I suggest it is probably an accurate assessment of the state of affairs, at least as of 2009. We also have any number of researchers claiming a significant contribution of genetics to IS.

If anyone can find any researcher claiming this is not a complex genetic condition or that they are pursuing a NON-genetic approach towards "multifactorial" or "environmental" etiology, I would like to see it. Thanks.

Love,
A bunny

[Pooka1]

Until researchers prove that all cases of idiopathic scoliosis are genetically inherited, idiopathic scoliosis remains idiopathic.

It is very clear from the multiple mentions by researchers of idiopathic scoliosis and genetic in the same breath that it can be genetically influenced and ALSO still be idiopathic. So we, as bunnies, must accept that and figure out why those terms do not conflict for these researchers.

My guess is that because there may not be a consensus as to which gene(s) and loci(s) are involved or what these genes exactly are doing.

So I guess if they don't know all genes and exactly what they do, they can label something idiopathic AND genetically influenced and STILL sleep at night if you can believe it!

It is the job of every rational bunny to accept the FACT that researchers have no problem WHATSOEVER with calling idiopathic scoliosis a complex genetic condition.

[hdugger]

I'm just going to stick this little fact into the ground one more time, because it keeps getting dug up and tossed away as if facts had no weight whatsoever. (I'm guessing by these mythical bunnies, who probably shouldn't be at keyboard at all.)

The Scoliscore researchers terms scoliosis as a multifactorial disease, and define multifactorial thusly:

"A complex disease is caused by the interaction of multiple genes and environmental factors. Complex diseases are also called multifactorial. Examples of complex disease include cancer and heart disease."

I'm not certain who all of these bunnies are, but for all of the humans participating on this board, that all seems clear enough.

[Ballet Mom]

The fact that you think I am claiming something is proven (beyond what the consensus is of the research community which isn't really rocket surgery to "prove") tells me you aren't following along.

Among researchers, if there is a consensus, it is based on where the evidence is leading.

Among bunnies, denials of facts or of research consensus are based strictly on emotion and lack of relevant training.

What I have learned from these interminable threads is there is a strong emotional reason to deny that the scientific community is focusing on the genetics w.r.t. idiopathic scoliosis. It is exactly analogous to denying evolution or an old earth or the roundness of the earth.


Let me refresh your memory as to why I even stepped into this pile of poop.


The risk is small but there because of the genetic nature of idiopathic scoliosis...

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2674301/

Another reference says fraternal twins (= any sibling-sibling pair) both have scoliosis about 1/3 of the time and identical twins have scoliosis about 75% of the time essentially proving the genetic etiology.

In case you didn't realize, this statement of yours claims that a genetic etiology...i.e. a genetic cause...has been essentially proved. I am claiming that I couldn't care less if it turns out to be genetically inherited, genetically influenced, or occurs because of some organism such as varicella imbedded in the spinal cords of people who respond to it for some reason, perhaps due to their inflammatory response.

What I do insist is these researchers make darn well sure that when they are studying familial scoliosis, by necessity, they ensure that that genetic inheritance, if found, is also found in all the other 75 percent of scoliosis cases that do not have family members with scoliosis.

There is a lot of difference that I see between different idiopathic scoliosis cases. I could very easily believe that there are very different causes of different types of scoliosis. So before they start claiming that this Scoliscore test works so accurately for everyone, which it doesn't...they actually figure out why it doesn't. And before they take bracing away from patients because they think so few respond, perhaps they need to figure out if those with family members which also includes a lot of juvenile scoli cases respond differently than those other 75 percent of patients without family members affected.

You know, you would come off a whole lot better if you didn't try to insult people with every comment. Lots of people are a lot more intelligent than you like to think. I know it would shatter your worldview to think otherwise.

[Ballet Mom]

It is very clear from the multiple mentions by researchers of idiopathic scoliosis and genetic in the same breath that it can be genetically influenced and ALSO still be idiopathic. So we, as bunnies, must accept that and figure out why those terms do not conflict for these researchers.

My guess is that because there may not be a consensus as to which gene(s) and loci(s) are involved or what these genes exactly are doing.

So I guess if they don't know all genes and exactly what they do, they can label something idiopathic AND genetically influenced and STILL sleep at night if you can believe it!

It is the job of every rational bunny to accept the FACT that researchers have no problem WHATSOEVER with calling idiopathic scoliosis a complex genetic condition.

I am very well aware that there is no doubt a genetic influence as there is in everything. Etiology means cause. Until researchers find out what causes all the different, various cases of scoliosis, the cause(s) or etiology remains idiopathic. I'm not sure what's so difficult to accept about that.

[Pooka1]

Let me refresh your memory as to why I even stepped into this pile of poop.

In case you didn't realize, this statement of yours claims that a genetic etiology...i.e. a genetic cause...has been essentially proved.

IT IS ACCEPTED THAT "IS" IS GENETIC. The reason it is accepted is from evidence like a 75% concordance rate between identical twins. The only people who do not accept the genetics of this are bunnies.

[Ballet Mom]

IT IS ACCEPTED THAT "IS" IS GENETIC. The reason it is accepted is from evidence like a 75% concordance rate between identical twins. The only people who do not accept the genetics of this are bunnies.

It's like hitting your head against a block wall.

It may be genetic to some people because they inherited it directly from their family tree. It may be genetic to other people because they have lax joints and do ballet and rhythmic gymnastics. It may be genetic to some people because they have a virus residing in their spinal cord, affecting their CNS and their inflammatory response. They could all be genetically influenced, and yet all different, and still produce the symptom of scoliosis. They don't necessarily have to be the exact same cause.

[Pooka1]

I'm not sure what's so difficult to accept about that.

Fact 1: Researchers call IDIOPATHIC scoliosis a COMPLEX genetic condition.

Fact 2: Bunny A does not understand why those terms don't conflict.

Fact 3: Just because Bunny A doesn't understand why "idiopathic" and "genetic" don't conflict doesn't mean they conflict for researchers.

This isn't my game and I don't really have a damn clue why those terms don't conflict. All I can do is ACKNOWLEDGE that they don't seem to conflict for researchers in this field which is really the only thing that matters.

[Pooka1]

It's like hitting your head against a block wall.

Exactly.

By the way, are you as sure about your comments in this thread as you are that Francis Collins would tell the climate guys their own game?

I'm just trying to guess how sure you are of these statements.

[Pooka1]

It may be genetic to some people because they have a virus residing in their spinal cord,

Name a researcher looking at this. It seems like a bunny idea.

[Ballet Mom]

Exactly.

By the way, are you as sure about your comments in this thread as you are that Francis Collins would tell the climate guys their own game?

I'm just trying to guess how sure you are of these statements.

Let me wipe the poop off my feet and remove myself from the presence of an ignoramus.

[rohrer01]

First of all, I would like to say that this particular argument is getting VERY old. I think what some of you are misunderstanding or misinterpreting are some very basic things.

genetic: anything that affects the DNA, whether it be inherited, or a virus, a drug or toxin (during or after gestation), radiation damage, or free radicals, etc...

inherited: passed on from parent to child due to a defective gene in the germ cells (sperm or ova).

environmental: ANYTHING outside straight inheritance that causes a reaction, good or bad. This can include some genetic things such as onset of menarche, mother's maternal age, germs (yes, folks I said it), viruses, radiation, diet, exercise, ones own hormonal balance or metabolism, etc... You get the point, I hope.

Yes folks, environmental things can cause genetic damage, making it genetic due to environmental damage. But that ugly word "genetic" still pops up here.

So please quit arguing about terminology. Until we get a real geneticist on here, we have to rely on what the research is saying. I know those things are hard to interpret, but we do the best we can. We don't need to be constantly arguing about it. Discussions are far different than character assasinations and name calling.

[rohrer01]

I might add for further emphasis: genetic NOT EQUAL TO inherited

[hdugger]

I might add for further emphasis: genetic NOT EQUAL TO inherited

I am completely misusing the term. When I say genetic, I really mean inherited.

[Pooka1]

First of all, I would like to say that this particular argument is getting VERY old. I think what some of you are misunderstanding or misinterpreting are some very basic things.

genetic: anything that affects the DNA, whether it be inherited, or a virus, a drug or toxin (during or after gestation), radiation damage, or free radicals, etc...

inherited: passed on from parent to child due to a defective gene in the germ cells (sperm or ova).

environmental: ANYTHING outside straight inheritance that causes a reaction, good or bad. This can include some genetic things such as onset of menarche, mother's maternal age, germs (yes, folks I said it), viruses, radiation, diet, exercise, ones own hormonal balance or metabolism, etc... You get the point, I hope.

Yes folks, environmental things can cause genetic damage, making it genetic due to environmental damage. But that ugly word "genetic" still pops up here.



That's a very helpful clarification. I think it will go far to circumvent the emotional and irrational pushback against the reality of what the consensus is in the research community. And I hope it also shows folks why Jack Cheng can stand there in front of those surgeons and state that the etiology of idiopathic scoliosis is "all genetics." That said, I bet here is still emotional pushback.

I'll just add that what the researchers have on the table at the moment does NOT resemble the suggestions from the bunnies on this group. And while researchers will include non-inherited causes in discussions, they appear to be doing it out of completeness and are mainly looking at inheritance as far as I can tell. Complex inheritance patterns in some cases involving multifactorial and environmental (in the research not bunny sense) drivers.


Until we get a real geneticist on here, we have to rely on what the research is saying.

That's the problem in a nutshell. Bunnies don't like what the researchers are focusing on. Researchers are studying things like finding the genetic loci for IS and double neuro-ossification mumbo jumbo but bunnies want them to focus on rhythmic gymnastics or a germ because that's what they can wrap their mind around.

This is why I continue to claim the research section and all these threads are ridiculous. Until we get some geneticists, biochemists, etc. etc. it is truly useless to have a bunch of bunnies arguing what can only be nonsense.

[hdugger]

Actually, the whole genetic picture just fell apart for me. Or, the genetic picture is still clear, but the inheritance picture makes no sense whatsoever.

If scoliosis were the type of disease where the trigger were genetic and the progression were environmental, the inheritance picture would make perfect sense. If, as we so often see in families where there are clusters of scoliosis, one kid had severe scoliosis, and another kid had mild scoliosis, they would both be presumed to have a similar genetic make-up but different severities of the disease due to differences in the environment. Here's a picture of that inheritance from the Scoliscore folk - http://www.scoliscore.com/scoliscore-genetics/GeneticsInfluenceProgression/FamilialCharacteristicsofAIS.aspx

But . . . according to the Scoliscore test, that's not how it works at all. The trigger is presumably environmental and only the progression is genetic. So now, those two siblings (one with severe and one with mild scoliosis) could not be further apart genetically - one of them has a score under 50 and the other has a score over 180 (or, whatever the numbers are). In fact, the sibling with severe scoliosis would be *more* likely to be genetically similar to a sibling who didn't have scoliosis at all. That's because the scolioscore model allows for someone with a score of 200 to not have scoliosis at all, but it does not allow for someone with a score of 200 to have mild scoliosis.

That would seem to blow apart the kinds of questions we ask on the board to figure out the inherited contribution (and the questions asked in alot of the literature meant to get at the same information.) The question is not "Do any of your relatives have scoliosis," because that's not the way the genetics work (according to Scoliscore). That just lets you know if they've been exposed to a trigger. The question would be "Do any of your relatives have scoliosis of roughly the same level of severity?" Only those relatives with a similar severity are likely to have the same underlying genetic makeup. Siblings with dissimilar severities would have a dissimilar genetic make-up - and families with these types of dissimilar siblings would go against the inheritance model - not support it.

It's early, so I could be missing something obvious, but nothing in the inherited model is making any sense to me.

[rohrer01]

This is my understanding and I hope it clarifies. IF the scoliscore can be 200 and meaningless in someone without scoliosis, then why would it have meaning for someone with mild scoliosis and a score of 200? I'm assuming that is your question. The person with the mild case of scoliosis has had a trigger, either environmental OR genetic that has started the disease, therefore making the person very likely to continue to progress. If the disease never gets started then the person is okay. It's like a train. It's perfectly harmless sitting at the train depot, but when it starts out slow at the top of a hill, are you going to want to be standing at the bottom of that hill hoping that it can put the breaks on? Likely not. I hope this helps.

[hdugger]

I'm asking something different, but my understanding of genetics may not be good enough to ask it.

I'm going to imagine that there are three genes that control scoliosis and, if they're all on, you're a 200. If they're all off, you're a 0.

So, you have one kid in a family with severe scoliosis. This kid has a scoliscore of 200 and is an AABBCC. And you have one kid in the family with mild scoliosis. This kid has a scoliscore of 0 and is an aabbcc. (I'm doing it this way because the research says it's dominant, so I'm making it dominant)

So, even though, by phenotype, these kids are both the same (i.e., they both have scoliosis) by genotype, they couldn't be more different. But, when you look at the inheritance studies, they're lumping these two kids together. If you have severe scoliosis, and your sibling has mild scoliosis, they're saying that's the same genetic trait. But, according to the Scoliscore test, it's not. You and your sibling are completely different. The only thing you have in common is that you experienced the same trigger (again, presumably environmental). But you have nothing in common genetically.

OTOH, they could look at a family with two siblings who are AABBCC where only one shows any scoliosis at all and say they're both different. But, even though in phenotype they're different, they're exactly the same in genotype. They only differ in phenotype because they didn't both experience the environmental trigger.

So, is there something I'm not getting about the Scoliscore test? Is it just showing the tip of the scale, such that if you surveyed the general population there'd be some score way below 0 that keeps people from getting the disease at all? That is, is someone with a score of zero not really someone with all of the genes flipped off but instead maybe an AaBbcc (two genes flipped on). That would make a little more sense.

But, if 0 to 200 are all of the possible ranges, even in the general population, I don't understand how you can lump people with mild and severe scoliosis into the same genetic category. According to the test, they're not similar at all - they're genetically as dissimilar as possible.

[rohrer01]

First of all, all scoliosis is NOT dominant. The train analogy still applies. There are no two siblings exactly alike, not even MZ twins. Now MZ twins are genetically identical IF they are males but females have random X-inactivation making them not always show the same traits. But the buck stops there. Even in-utero, things are different for each sibling including MZ twins. Maybe one is getting a better placental blood supply or has more room, or is positioned differently, etc. Also, the cells in each of the bodies has to undergo a transformation to tell it what kind of cell to become, so no two people are exactly alike because they develop independently after zygote separation. This explains why Pooka1's daughters had different curve patterns. Take my daughter, for instance. She has mild scoliosis and is now an adult. She would have probably scored very low on a scoliscore. Me, on the other hand, would have probably scored high. She probably inherited some "bad" genes from me and some "good" genes from her father. In my case, both of my parents are unaffected, but they had to have had some "bad" genes in small enough amounts, and/or had no trigger, but managed to pass all of their "bad" genes on to me. Once the progression started, it's a snowball effect. You need to get rid of the notion that it's all dominant. It has been discussed on different threads about different inheritance patterns. It might help to read about the Scoliscore on the welcome page of this website. They discuss the different inheritance patterns. Genetics can be very complicated and hard to understand, especially when more than one mode of inheritance is involved. The "trigger" could be something as small as how a protein is transcribed and acts on another one causing a chain reaction. It doesn't have to be something outside the body. The scoliscore wouldn't necessarily test for this as "the protein" may be perfectly harmless in people without the scoliosis genes (just a theory, I have no documentation to back up my thought). They are looking at the actual genes that scoliosis people have in common. If a person has all the bad scoliosis genes and, for the sake of argument, the trigger is a protein, they lack a certain kink in that protein, they will never get scoliosis and the test is irrelevant to them. Now if a person has only one or two "bad" genes, let's say and a trigger (whatever it may be) and they have mild scoliosis, they would be far less likely than someone with multiple "bad" genes and the same trigger to progress. That is due to the fact that the person with multiple "bad" genes has just been caught very early in the disease progression, whereas the person with one or two "bad" genes has likely had the full, or near full, expression of their disease. I probably confused you more, but I tried.

[hdugger]

It actually doesn't seem like a dominant gene to me, but when I look up the genetic research, it describes it as "autosomal dominant" (but within a multifactorial model). So, I'm just trying to write it out that way, even though it doesn't really make much sense to me.

Something still isn't making sense to me, but I'll try to parse it out on my own a bit.

[rohrer01]

Well it skips generations in my family. That's definitely not dominant.

[hdugger]

I was assuming that in skipped generations the genetic code to progress was there, but the trigger wasn't. So, there's a dominant code that tells how you'll progress if you get the trigger, but an environmental trigger that determines whether or not you get the disease in the first place.

[rohrer01]

BUT, who said the trigger is environmental. That is something we do not know.

[hdugger]

Sorry, sloppy language for me. I mean non-inherited.

[rohrer01]

No, it's not sloppy. I'm saying the trigger MAY be inherited as well. We just don't know. Some things are benign in the general population, for example eye color (not implying eye color has anything to do with scoliosis). We have variations of "normal" within our genes. The trigger may be a variant that is normally harmless unless it is in combination with the "scoliosis genes".

[Pooka1]

The trigger for IS is genetics in terms of inheritance according to most references. For example here is the Scoliscore mention...


It wasn’t until 1968, 15 years after Watson and Crick reported their discovery of DNA,5 that Wynne-Davies reported that AIS was indeed familial and suggested that it was caused by either dominant or multiple gene inheritance.6 This view was further supported by work performed by others over the next 40 years.7-13

Straight genetic inheritance.

Can someone post any evidence for an environmental trigger in the bunny sense?

[rohrer01]

What I'm implying is that it may be something so common in the gene pool that it would be impossible to test for, as it has to be in combination with the scoliosis genes. We have many, many normal variants like eye color, as I mentioned, hair color, skin color, not to mention variants at the metabolic level. We humans are very, very complex. Look at blood type and rH factor, for instance. These are normal variants. I'm sure that there are many, many normal variants of other proteins, etc... That's just my guess. Who knows, it may be a virus, but let's hope not. Scoliosis shows no sign of being contagious, so we can pretty much rule that out. In my honest opinion, I think it is a protein, or a configuration of some element of DNA transcription. There are sequences upon sequences of "useless" DNA that have been found NOT to be useless after all. These segments turn genes on and off and it's very complicated, so I'm not even going to go there or I will get myself in trouble trying to remember how to explain it. It would be nice if everything worked out like Mendel's peas, but it really isn't that simple.

[Ballet Mom]

Who knows, it may be a virus, but let's hope not. Scoliosis shows no sign of being contagious, so we can pretty much rule that out.

I just want to butt in here for a sec just to say that no one is saying that there is a scoliosis virus that is contagious. If say, for instance, a varicella virus is known to insert itself forever into the spinal ganglia, some people with certain reactive immune systems could react to that invader virus. Not everyone would. And yes, I know that would mean that there was a genetic pre-disposition in the immune system makeup. This would concur with my daughter's compensatory curve straightening out to various degrees while on different drugs with highly anti-inflammatory properties, and Concerned Dad's thread about the Japanese and their fish diet with the anti-inflammatory nature of high doses of Omega 3’s and their lower rate of scoliosis. It simply can't be ruled out without investigating it.

[rohrer01]

True to an extent, and I'm not dogmatic about it. However, the varicella virus is contagious and while not all people get shingles from it, a good number do. It is enough to trace it back to the virus.

[Ballet Mom]

True to an extent, and I'm not dogmatic about it. However, the varicella virus is contagious and while not all people get shingles from it, a good number do. It is enough to trace it back to the virus.

I'm not sure what you're saying here? 2-3% of adolescents in the US, most of whom would have been exposed to the varicella virus, end up with scoliosis.

[rohrer01]

Well, for arguments sake, let's say it is varicella that is the trigger for scoliosis. A controlled study would need to be done to see how many of the kids start curving AFTER exposure to varicella. Also, with the weakened, but live, varicella vaccine we would expect to see an increase in the incidence of scoliosis as we do shingles from the vaccine. I don't think we are seeing that, at least not yet. There would have to be a way to make the connection between the virus and the disease. Also, it would tend to be more regional, where the virus frequents more often. I don't have information on varicella to know if the incidence is the same worldwide as scoliosis is. Although it could be a different virus. But typically, these types of things, viruses and bacteria, tend to be endemic, at least for a time.

[Ballet Mom]

Well, for arguments sake, let's say it is varicella that is the trigger for scoliosis. A controlled study would need to be done to see how many of the kids start curving AFTER exposure to varicella. Also, with the weakened, but live, varicella vaccine we would expect to see an increase in the incidence of scoliosis as we do shingles from the vaccine. I don't think we are seeing that, at least not yet. There would have to be a way to make the connection between the virus and the disease. Also, it would tend to be more regional, where the virus frequents more often. I don't have information on varicella to know if the incidence is the same worldwide as scoliosis is. Although it could be a different virus. But typically, these types of things, viruses and bacteria, tend to be endemic, at least for a time.

Actually, I would expect to see the rate of scoliosis go down due to the exposure with a weakened virus...which it is.

[rohrer01]

I would expect it to go up. I know of several kids that have repeatedly "caught" chicken-pox after being vaccinated. I know someone who worked with the CDC when the vaccine was being researched and he saw the incidence of shingles rise from the vaccine. I'm not saying people shouldn't get their kids vaccinated, my grandson is, but sometimes there are unexpected negative results with the best intentions. I would like to know where you get your information about the scoliosis rate declining since the institution of the varicella vaccine. That would be VERY important information and the researchers should be all over it.

[Ballet Mom]

I would expect it to go up. I know of several kids that have repeatedly "caught" chicken-pox after being vaccinated. I know someone who worked with the CDC when the vaccine was being researched and he saw the incidence of shingles rise from the vaccine. I'm not saying people shouldn't get their kids vaccinated, my grandson is, but sometimes there are unexpected negative results with the best intentions. I would like to know where you get your information about the scoliosis rate declining since the institution of the varicella vaccine. That would be VERY important information and the researchers should be all over it.

That scoliosis decline information was from Dingo's interview with Dr. Douglas Kiester of UC Irvine. Dr. Kiester is an orthopedic surgeon and scoliosis researcher. Dingo's interview with him is somewhere in the research section of this site if you look. I have no idea if the decline in scoliosis cases coincides with the introduction of the vaccine.

My daughter was the first group of kids vaccinated with the varicella vaccine and she did end up getting a very weird case of chickenpox which coincided with a weird case of CNS dysfunction where her leg would be up in Grand Battement when everyone elses was down and vice versa for a few days. When I talked to her about it she thought everyone else must be wrong and she was doing it right. It was completely bizarre because it never happened before and never happened again. And then later on she was diagnosed with scoliosis...connected? Maybe.

http://www.youtube.com/watch?v=3w2QHvSV05w

[Pooka1]

I would like to know where you get your information about the scoliosis rate declining since the institution of the varicella vaccine. That would be VERY important information and the researchers should be all over it.

I want to see a reference. I especially want to see their methods.

[rohrer01]

That scoliosis decline information was from Dingo's interview with Dr. Douglas Kiester of UC Irvine. Dr. Kiester is an orthopedic surgeon and scoliosis researcher. Dingo's interview with him is somewhere in the research section of this site if you look. I have no idea if the decline in scoliosis cases coincides with the introduction of the vaccine.

http://www.youtube.com/watch?v=3w2QHvSV05w

Is this what you were talking about?

"Dr. Kiester) The more active the better. The natural incidence of scoliosis is falling. I believe it is a function of increased girl participation in sports, and increased obesity (which reduces scoliosis to a degree in some cases by moving the center of gravity forward away from the spine)."

Dr. Kiester gave no indication that he even knew for sure why the incidence was going down. Varicella was never even mentioned in the conversation, unless I missed it somewhere.

[Pooka1]

Can anyone find any reference whatsoever to falling IS rates? I can't.

One pub won't do it on this one. You would need some type of consensus among these epidemiology types that IS is likely declining. I suggest that isn't the case based on the apparent vacuum of pubs.

[Pooka1]

I think what we have here is Kiester got a "vibe" about declining IS rates. No evidence, just a vibe.

Also, I haven't come across anyone in this field talking about any germ as being involved with IS. There is no mention of anything like that in Cheng's talk for example as relates to what these guys are actually spending their time studying. Germs in general, and specific germs, are limited to bunny discussions.

Folks pulling for the germ theory better hope it doesn't turn out of be a retrovirus for which no vaccine can be developed. Careful what you wish for...

[Ballet Mom]

Is this what you were talking about?

"Dr. Kiester) The more active the better. The natural incidence of scoliosis is falling. I believe it is a function of increased girl participation in sports, and increased obesity (which reduces scoliosis to a degree in some cases by moving the center of gravity forward away from the spine)."

Dr. Kiester gave no indication that he even knew for sure why the incidence was going down. Varicella was never even mentioned in the conversation, unless I missed it somewhere.

That's it. Of course the interview had nothing to do with varicella. These are things that I have observed with my daughter and sharing it for any researchers out there who think it might have some potential. I doubt any doctors would make any connection to varicella because infection could happen at anytime prior to the major growth spurt and show up years later when the major growth spurt occurs.

I'm simply pointing out a possibility from experience with a daughter who has a highly reactive inflammatory response system and has had fairly unique experiences and a mom who has watched her over her life very closely due to her unusual longterm interest in ballet. I only thought about it possibly being related because Dingo's comments got me thinking of the possibility of a theory of scoliosis by organism.