Advanced Maternal Age Associated with AIS?

[Ballet Mom]

You misunderstood them. The distinction you are making does not come from the researchers. It comes from your misunderstandind the terminology.

If you disagree, please posts a few refernces clearly defining "familial AIS" separate from "AIS".

I did not misunderstand them. If the researchers are talking about scoliosis with multiple family members, they specifically identify them as "familial" scoliosis. And I am not about to do your work for you.

[Ballet Mom]

By the way, for anyone interested, I have found several studies that say that juvenile scoliosis has a high familial relationship, which is what I had observed here on the forum.

[Pooka1]

I did not misunderstand them. If the researchers are talking about scoliosis with multiple family members, they specifically identify them as "familial" scoliosis. And I am not about to do your work for you.

Your "work" is folk science. I am certianly not asking you to give me more folk science.

[Ballet Mom]

Your "work" is folk science. I am certianly not asking you to give me more folk science.

I think you'd be well advised to actually go read some of these research papers without an ideological slant. Apparently that's what universities are for these days, the propagation of ideology, not the quest for truth.

[Pooka1]

I think you'd be well advised to actually go read some of these research papers without an ideological slant. Apparently that's what universities are for these days, the propagation of ideology, not the quest for truth.

More conspiracy theories?

And you are clearly someone who decides what results are correct based on how they make you feel emotionally, not me. As I told you, I like papers with tight methods and I dislike the ones with crappy methods and lack of controls. You will never wrap your mind around this concept until you start making sense.

[rohrer01]

I speak here from only personal experience:

In HINDSIGHT I know that my AIS is familial. When I was diagnosed, no one in my family had ever heard of scoliosis, other than a letter from the nurses office at my school. We never gave it a second thought until I was actually diagnosed. As far as we knew no one in my family had it. Fast forward 26 years and we have tracked down several family members that had scoliosis or some form of it (kyphosis). The more children that are born to my family members seem to produce more cases. So my point is that maybe IF the 1/4 3/4 theory is true, could it be that 3/4 of the people diagnosed just don't know of other family members? We gave the doc's "no family history" when I was diagnosed, too.

Concerning the Axial-Biotech study, are you suggesting that they took their study subjects strictly from Utah? I'm not from Utah, however I do have "Mormon" lineage that dates back to the region. Axial-Biotech would not have known this, nor did they ask me.

[Pooka1]

I speak here from only personal experience:

In HINDSIGHT I know that my AIS is familial. When I was diagnosed, no one in my family had ever heard of scoliosis, other than a letter from the nurses office at my school. We never gave it a second thought until I was actually diagnosed. As far as we knew no one in my family had it. Fast forward 26 years and we have tracked down several family members that had scoliosis or some form of it (kyphosis). The more children that are born to my family members seem to produce more cases. So my point is that maybe IF the 1/4 3/4 theory is true, could it be that 3/4 of the people diagnosed just don't know of other family members? We gave the doc's "no family history" when I was diagnosed, too.

This demonstrates why the claim that some AIS is familial and some is not based simply on the identification of family members who have it is pure folk science, stem to stem.

When I spoke with the geneticist, I told her there was nobody on either side of the family who had scoliosis. I LATER learned my aunt has it and my husband's cousin had a surgical case. Obviously the geneticist did not write "non-familial" and then cross out the "non" part when I found out others in the family had scoliosis. All AIS is familial and she would know that as a geneticist for heaven's sake.

This is why researchers don't deal with familial in the folk science way meaning known cases in the family. Garbage in - garbage out.

And I just want to say that I find this biomedical terminology extremely confusing. I don't think my field has terminology this confusing but that is for others to say, not me.

[livingtwisted]

Can familial also be environmental?

So I have a theory that may or may not have any merit, but I'd like to throw it out there in case someone whose enjoys reading the research (I find it headache inducing) would like to pursue it...

What if the fact that scoliosis has a genetic component also leads to environmental influences, therefore creating a perfect storm for increased cases within a family? What I mean is this... I believe I've read that children tend to pattern their behavior after their parents', including posture, gate, etc. So if you have both the genes that predispose you to scoliosis, and the environmental influence of a parent with scoliosis, maybe that increases your odds of developing it even more. Therefore, some cases of scoliosis in the family lead to more cases, which lead to even more. I think this would answer someone's question about why evolution hasn't been able to work this out for us.

Anyway, just a thought. I have no bias here -- I am the only known case of scoliosis in my family, although the body type and hypermobility is definitely present. I hope it doesn't lead to more guilt for anyone. I personally think any parent on this site is already doing a great job just by being informed.

[Pooka1]

So I have a theory that may or may not have any merit, but I'd like to throw it out there in case someone whose enjoys reading the research (I find it headache inducing) would like to pursue it...

What if the fact that scoliosis has a genetic component also leads to environmental influences, therefore creating a perfect storm for increased cases within a family?

That could be true. It certainly has merit as a hypothesis in my opinion.

What I mean is this... I believe I've read that children tend to pattern their behavior after their parents', including posture, gait, etc. So if you have both the genes that predispose you to scoliosis, and the environmental influence of a parent with scoliosis, maybe that increases your odds of developing it even more.

There could be predisposing environmental factors and the reason I say this is because researchers in this field suggest this. But these factors don't include posture or anything like that. Here's an example where posture issues are ruled out so they must have data showing they don't affect scoliosis incidence...

http://www.srs.org/patients/

Scoliosis does not come from carrying heavy things, athletic involvement, sleeping/standing postures, or minor lower limb length inequality.

http://www.srs.org/patients/adolescent/handbook/faq.php

# Poor posture does not cause scoliosis.
# Carrying a heavy book bag does not cause scoliosis.

Therefore, some cases of scoliosis in the family lead to more cases, which lead to even more. I think this would answer someone's question about why evolution hasn't been able to work this out for us.

The answer to that question is pretty easily known though not necessarily acknowledged by some bunnies. The real question for me is why isn't it more prevalent since most people have such a mild case and many never know they have it.

Anyway, just a thought. I have no bias here -- I am the only known case of scoliosis in my family, although the body type and hypermobility is definitely present. I hope it doesn't lead to more guilt for anyone. I personally think any parent on this site is already doing a great job just by being informed.

No I don't see any bias in your comments. I agree that guilt is not relevant to biology.

[Dingo]

Rohrer01

Although several members of your family suffer from Scoliosis that doesn't mean it's caused by heredity. Your family might share a susceptability to something harmful in the environment. For example Endocardial Fibroelastosis was a potentially fatal heart condition that appeared to run in families. It disappeared after mumps vaccines were introduced.

Endocardial Fibroelastosis

Endocardial fibroelastosis refers to a pronounced, diffuse thickening of the ventricular endocardium and presents as unexplained heart failure in infants and children. The disease can be primary or secondary to various congenital heart diseases, most notably hypoplastic left heart syndrome, aortic stenosis, or atresia. The 2 pathologic forms of primary endocardial fibroelastosis include dilated, which is most common, and contracted. Primary endocardial fibroelastosis is not associated with any significant structural anomaly of the heart. Secondary endocardial fibroelastosis is associated with other congenital heart diseases. Once regarded as a common cause of unexplained heart failure, endocardial fibroelastosis is now considered rare.

A 1964 study demonstrated an incidence rate of 1 per 5,000 live births. The incidence over subsequent years has been markedly reduced for unknown reasons, with almost no new cases in the current era. The disappearance of this condition is believed to be related to the declining prevalence of mumps.

A 1978 study reported that endocardial fibroelastosis comprised 1-2% of all congenital heart diseases. Currently, the number of endocardial fibroelastosis cases has dramatically fallen to almost zero. The idiopathic form of the disease is sporadic, but familial cases are also reported (10%).

1 in 5,000 isn't so different than the number of children who suffer from severe scoliosis.

[Pooka1]

That doesn't mean a scoliosis gene is being passed down in non-familial cases of scoliosis. That's why they call it idiopathic.

http://www.srs.org/patients/adolesce...ook/causes.php

Eighty-five percent of people with scoliosis have the "idiopathic" type. "Idiopathic" means "no known cause." However, the term is not quite accurate, as we actually know quite a bit about the cause and natural history of idiopathic scoliosis. Idiopathic scoliosis frequently runs in families and there is a growing body of evidence that genetics plays a major role.

[hdugger]

I don't think there's any reason to doubt the Scoliscore researchers assertion that scoliosis is a multifactorial disease, like heart disease. The model they present, which I'm going to simplify as a greater or less genetic tendency to progress, makes sense of all of the different family stories I've seen on this forum.

For someone like Roher, it's possible that a very high tendency to progress (equivalent to a Scoliscore test above 180) is passed down. For any children with a high score, the environment would have to go really, really right for them to avoid progression. That still doesn't make the incidence or progression entirely genetic, it just says that the genetic stars are lined up in such a way that they're likely to progress. This might be equivalent to someone who has another multifactoral disease (heart disease) with an inherited tendency to produce a high level of bad cholesterol. My niece has this condition, and she has to be very, very careful with her diet just to stay healthy.

For someone who doesn't show a large number of relatives with scoliosis in their family, it's likely that they're passing down a lower score. They could progress, given a certain set of environmental conditions, or they could not progress, given another set of environmental conditions. This might be equivalent to someone with a less than optimal lifestyle who gets heart disease. The contribution in this case would be closer to half and half genetics and environment.

Finally, there might be someone with no relatives with scoliosis who is progressing entirely because of environmental factors with no genetic predisposition (equivalent to a low Scoliscore). It would take a huge amount of environmental push to tip them over the edge.

Unless we have people on the forum with entirely different etiologies - maybe Roher's family has some kind of connective tissue disorder rather than idiopathic scoliosis - no other explanation really makes sense of what we see on the forum. Yes, we see clusters of the disease in some families (indicating a high genetic influence) but we also see lots of cases without any clustering.

[Dingo]

hdugger

maybe Roher's family has some kind of connective tissue disorder rather than idiopathic scoliosis

It wouldn't need to be that straightforward. They might share a genetic susceptability to a particular strain of the flu virus that is common in the modern era. Scientists have no evidence that suggests what the initial triggering mechanism might be. The number of reasonable possibilities is practically endless.

[Ballet Mom]

I speak here from only personal experience:

In HINDSIGHT I know that my AIS is familial. When I was diagnosed, no one in my family had ever heard of scoliosis, other than a letter from the nurses office at my school. We never gave it a second thought until I was actually diagnosed. As far as we knew no one in my family had it. Fast forward 26 years and we have tracked down several family members that had scoliosis or some form of it (kyphosis). The more children that are born to my family members seem to produce more cases. So my point is that maybe IF the 1/4 3/4 theory is true, could it be that 3/4 of the people diagnosed just don't know of other family members? We gave the doc's "no family history" when I was diagnosed, too.

I'm sure that's true with many people. When people are diagnosed, they are typically not in research studies. If they are in a study, you'd expect the researchers to verify that. Nevertheless, you'd think cases of scoliosis would show up from chest x-rays etc from other conditions, and none ever have in my family.[QUOTE]

Concerning the Axial-Biotech study, are you suggesting that they took their study subjects strictly from Utah? I'm not from Utah, however I do have "Mormon" lineage that dates back to the region. Axial-Biotech would not have known this, nor did they ask me.

I think they took their original genetic study from the Mormons, pretty clearly, and then expanded it beyond that group.

Dr. Kenneth Ward, of Utah-based Axial Biotech, a co-author of the study, explained that their research focused on the genetics of scoliosis. "We're out here in Salt Lake City," he said. "It's the center of the Mormon religion and they do a lot of genealogic research. Typically, when I take care of a patient here, they may know their family history back five or six centuries."

Ward explained that in the beginning, the researchers looked at 100 people whose scoliosis had become severe enough to need surgery and delved into their family histories. Incredibly, the research revealed that 70 percent of the patients were descended from one English couple in the mid-1500s. "Many diseases are much more strongly genetic than anybody realizes," Ward said.

Research progressed from there, identifying the 53 genetic markers that can indicate scoliosis.

http://articles.chicagotribune.com/2...sis-curvatures

[Ballet Mom]

Anyway, just a thought. I have no bias here -- I am the only known case of scoliosis in my family, although the body type and hypermobility is definitely present. I hope it doesn't lead to more guilt for anyone. I personally think any parent on this site is already doing a great job just by being informed.

Yes, I think this is the great majority of people with scoliosis from what I've seen. Body type, hypermobility, and possibly in sports with repetitive motions over long periods of time in an intense way. It certainly seems to be a major factor in ballet and gymnastics and possibly swimming.