8/16/2011

Studies....So Many Studies...

Lots of buzz over recent weeks on various studies concerning autism, genetics, and environment, along with the incidence of autism occurring in subsequent siblings.

I had the opportunity to listen to Clara Lajonchere speak at the volunteer leadership conference I attended in July; she spoke about the recent twin study she worked on being a game-changer because for the first time it showed that environmental factors played a greater role than genetics. Autism Speaks's science news page covered the study under the name "The Womb as Environment." In the introductory paragraph, I got stuck on the sentence, "This contrasts with previous thinking – based on much smaller twin studies – that inherited genes, by themselves, account for virtually all of a child’s risk for developing the disorder."

I got so stuck on it that I managed to finally discuss through email with Dr. Lajonchere this sentence and the fact that it contradicted much of what scientists have seemed to know for quite some time: that genetics and environment work together to cause autism(s). Dr. Lajonchere confirmed that this was, indeed, the case; what was surprising was that in this study, it showed the environment (think prenatally) seemed to play an even greater role than genetics.

The article quotes Dr. Lajonchere:

“It has been well-established that genetic factors contribute to risk for autism,” says Clara Lajonchere, PhD, a study co-author and vice president of clinical programs for Autism Speaks. “We now have strong evidence that, on top of genetic heritability, a shared prenatal environment may have a greater than previously realized role in the development of autism.”

So, is it a game-changer? Well, if it works out that the prenatal environment is even more important than genetics, then yes, it will be. We would want to work harder to prevent infection, preeclampsia and eclampsia, gestational diabetes and other issues that complicate pregnancy (things I dealt with in my pregnancies). Just like taking folic acid was a game-changer for spina bifida. Does working harder to have healthier pregnancies mean an end or even a downturn to autism cases? That presumes we can prevent things like infections and preeclampsia. Some things like gestational diabetes, controlling drug exposures, and other life-style related conditions may change things, lessen the severity of autism, perhaps. But that's a perhaps. We should aim, if we're going to get pregnant, to do so intentionally and to take care of ourselves and try for the least complicated pregnancy we can and realize that a lot of that is out of our control.

The new sibling study just out that shows about a 19% chance of subsequent siblings having autism (by the age of 3) points out that the genetics matter, but even though the womb isn't shared concurrently, it's possible that problems in one pregnancy occur in subsequent pregnancies as well. My pregnancies were all complicated.

There are no easy answers, and even when one study is done and shows something, no clear conclusion can be reached until subsequent studies back up the findings. It means a slow, often circuitous route to information that can be solidly relied on.

And autism research is fraught with issues which the media simply exacerbates. Small sample sizes, biases in sampling, ever changing definitions and criteria for autism, lack of sound methodology, poor statistical analyses, reliance on previous unrigorous studies that passed along incorrect assumptions about various aspects of individuals on the spectrum: all these serve to muddy the waters and make it incredibly difficult to parse out what's really going on. Add to that major autism researchers who conceive of their own concepts of autism and theories to explain it, and the fact that these major researchers are often at odds with each other, and it's a series of land mines that wear out even the strongest and most persistent.

It's all so confusing at times. Contradictory. People in completely unrelated fields can write their own research papers, either create their own open access journal and publish the work, publish it in a law review, or some other journal (foreign countries are good), and you've got little to no filter to ensure that good quality research is being done or published or that the rubbish will be pulled back. After all, the Geiers' studies remain in databases.

So what are parents to do? There aren't any easy answers there, either.

Don't believe every media report.

Don't believe every blog piece either. Not even mine.

If you really feel it's important, go to the actual journal article. Interviews with the authors are tricky because the researchers may go far beyond what the study actually says.

If you don't have a background in statistics, if it's completely out of your range of knowledge, you can still read the abstract, the introductory materials, and the conclusion.

Look for the authors to tell you what the possible limitations are.

Look at the qualifications of the authors. Is this their discipline?

Look at conflicts of interest.

Look at the sample size. If it's a sample size of 10, well, don't go changing your beliefs over a sample that small.

Does it directly impact you and your present life or future decisions? No? Then maybe it's not something to get overwhelmed with. Yes? Like the idea about whether to have additional children? Then read carefully. Think hard. And go with your heart and your gut. There is no right answer on what people choose to do with their reproductive rights. No one should tell you whatever decision you make is the wrong one. It's your life and you have to live with the consequences of your decisions.

And do yourself a favor, when you find your head spinning with study after study: take a break. Go be with your kids. Take a walk. Whatever it takes to clear your mind and keep you focused on what matters: your children and helping them achieve their potential.

Those studies, most of them? They don't directly impact you now. You can't change the past. And we need to wait for more science to confirm the previous findings. Focus on therapies and what evidence there is for them. Demand better science into treatments. Demand more money for supports.   Play. Live. Love. Laugh. You know, all the good stuff.







8 comments:

melbo said...

This was a great post and I have sent it on to a friend who is thinking through her options at present.

Pregnancy is always a lottery. I know when I belonged to a parenting board, there was a lot of talk around optimal pregnancy and birth. It's so true that preconception care is very important for both mother and baby.

I took vitamins and was lucky enough to have had healthy pregnancies with no complications. I'm a big believer in preventative medicine but that's not to say that when my son got his diagnosis, I still didn't wonder if it was something I'd done or some decision I'd made. hard to escape that guilt.

Broni said...

I agree with you. I find the research interesting and support ongoing funding for professional peer-reviewed research (by accredited professionals). However I try not to get too bogged down into it. Unless it can help me improve what I am doing to help my son .. I try and not to worry about it or spend too much time on it.

usethebrainsgodgiveyou said...

Sometimes it seems that research only gives us more questions. A great monolith lumbering forward at a snails pace. But discovery happens there alone.

So many discoveries in science change lives...look at diabetes, which once was a death sentence. When I first started perusing Pub-Med, I felt as though I was peering into a secret bastion of wisdom. Well, I'm still peering, and little has changed. But who knows, maybe one day the key will be discovered. It's like winning the lottery, you can't do it unless you buy a ticket. You can't do science without putting your ideas out there, either.

It's just not as magical as I thought at first.

Interesting, thoughtful post. Thanks.

farmwifetwo said...

Looks at children. Remember the pregnancies... one 150/90 at home 7 weeks - 18hr slam with drugs off my left hipbone (all in my head just as the nurse I had and the resident - the epidural does nothing for nerve pain) and a c-section. One in hospital 170/110 heart rate dive day went in, 5 days later after a day of no movement that took them a day to do an non-stress YET I was in antenatal at the time... heart rate dive just before c-section, 12hrs and induction after non-stress...

Yes.... that womb can be a nasty place... and I've always believed that plus those genes created the difference in severity btwn the 2 of them.

Lisa Quinones Fontanez said...

YES! YES! YES! Absolutely. I think a lot of people get wrapped up in studies and the latest findings. And expecting parents and parents in general work themselves up in tizzy. And it's frustrating.

And the reality is -
NO ONE REALLY KNOWS.

Angel G said...

Great post!

I'm getting tired of people asking me if I did this or that during pregnancy myself. And this newest study has people asking me if I would have had more children if I had known ahead of time of the risk. Sheesh!

Research is good because we'll eventually get to the answers - EVENTUALLY. The problems with the studies that are released is that people jump on them like they are the answer - they aren't.

autismandoughtisms said...

Loved this post; excellent explanations of the issues, and advice about how to incorporate findings (or not incorporate them) into our lives and thoughts.

KWombles said...

Thank you all. I apologize for not responding sooner. :-)