Is It Really #Autism?

This post has been brewing for quite awhile, but with all of the hoopla over vaccines, the "causes" of autism and possible other conditions with a similar presentation to autism I feel like it's a good time to share this.

So here's the thing about autism- there is no absolute test for it, right?  The diagnosis is made by assessment of behaviors, deficits, communication problems.  Parents are urged to complete the M-CHAT which is a comprehensive list of questions about their child at specific ages, and if red flags are there, further assessment is completed by a developmental pediatrician.  Having your child assessed by the school system is not adequate.  They can give your child a disability "label", but this should not be confused with a diagnosis. 

Because there is not a blood test that gives you a definitive diagnosis, people at times question if a child "really has autism".  The bottom line is, if they meet the diagnostic criteria, they have autism.  Could "autistic" behaviors be caused by something else? Good question.  Right now, we treat the behaviors, not the cause- or at least the medical community at large does.  And some children respond to alternative treatments, some do not.  Some parents have seen their children regress into autism, and others have seen the issues all along.

Why is this?  Is it possible that maybe not all cases of what is diagnosed as autism are autism at all?  I think that this is a very real possibility.  I also think that the idea that autism could be an autoimmune disease or at least be regulated by a similar mechanism, makes a lot of medical sense.  So many people with autism have other autoimmune problems, either themselves, or within their families. 
http://www.autismspeaks.org/science/science-news/association-family-history-autoimmune-disease-0

I know that we, as a family, have a history of crohn's disease, rheumatoid, autism, and other chronic autoimmune bowel conditions as well.  I cannot tell you how many other families we know fit this pattern.  This is one possible way to understand the huge increase in autism in recent years- what other disorders have increased?  Crohns, rheumatoid, fibromyalgia, diabetes, celiac, lupus.  These are all autoimmune disorders right?  It also goes back to the idea that there is no such thing as a genetic epidemic.  http://www.medicalnewstoday.com/articles/246960.php

"With the rapid increase in autoimmune diseases, it clearly suggests that environmental factors are at play due to the significant increase in these diseases. Genes do not change in such a short period of time."

http://jcn.sagepub.com/content/14/6/388.short

So if autism might be an autoimmune problem, it makes me wonder, are there other autoimmune disorders that cause symptoms of autism.  For instance....celiac
http://www.celiaccentral.org/Celiac-Disease/Related-Diseases/Autism-and-Celiac-Disease/37/    Is this why the gluten/casein free diet is life changing for some kids with autism and not others?  Could there be underlying celiac disease?

Celiac Disease-Autism Link

• Category: Blog, Signs and Symptoms
• Published Dated: February 18, 2010
• Writen by: katymchenry

The latest statistics say that 1 in 91 children have a diagnosis of autism. At the same time, it is now estimated that 1 in 100 individuals has celiac disease. Both of these conditions have paralleled each other in their increasing diagnosis over the years and recently, parents have been making the link, putting their children on gluten/casein free diets. However, what is behind the association between gluten and autism? Is there a link? Several studies say there is.
An association has been observed between children who have gastrointestinal symptoms and a family history of autoimmune disease as well as language regression (Valicenti-McDermott, McVicar, Cohen, Weshil, Shinnar, 2008). The study included 100 children with autism spectrum disorder. According to their parents, those with language regression more frequently suffered from abnormal stool patterns (40% versus 12%) and 24% of the children with language regression had an increased family history of celiac disease or IBD while none of the children without language regression did.
A smaller study of only 21 patients with autism found that 9 of the participants had an increased intestinal permeability compared to the control group (D’Eufemia, Celli, Finocchiaro, Pacifico, Viozzi, Zaccagnini, 1996). The study does not mention celiac disease, but it is important to note that it is a well known cause of increased intestinal permeability.
We are fairly certain that yes, a link between celiac disease and autism is there. But has it been shown that a gluten free diet might help ease the symptoms of autism? A 5-year-old boy diagnosed with severe autism and suffering from gastrointestinal symptoms was placed on a gluten free diet and given nutritional supplements in a clinical study (Genuis, Bouchard, 2010). Not only did his GI symptoms quickly resolve themselves, but his symptoms of autism also progressively subsided.

And now a little more to make your head spin....
http://www.ncbi.nlm.nih.gov/pubmed/16917400

Untreated celiac disease may be associated with hyperhomocysteinemia caused by a combination of vitamin deficiencies and variants in the MTHFR gene. Abnormalities do not consistently improve with gluten-free diet.  The abnormal findings could result from vitamin deficiencies or variant MTHFR status. Possible clinical implications for patients with celiac disease and hyperhomocysteinemia are reviewed.

Huh, so these people with celiac only improved when folic acid was added to the gluten free diet- and this was due to MTHFR variants.

I just don't know what I think about this yet.  What I do know is that based on some of the genetic issues I have read about with regard to autism, this seems to start tying a lot of things together, at least for me. 

If you recall from past posts, MTHFR mutations have also been suspected as a possible cause of autism.  My son's both have them.  This is confirmed.  (http://jackandnatesmom.blogspot.com/2012/10/more-answersmore-questions.html)
This is why I hold fast to the idea that the medical community is as of yet clueless about what is causing autism.  There are leads like these out there....it feels to me like people are either ignoring or discounting them.  Oh, and look at this....nothing definitively said, but it is something to think about.
http://www.ncbi.nlm.nih.gov/pubmed/15196997

I know many will disagree with me on all of this- but this is not even my opinion so much as me reading data that is readily available.  From reputable sources.  And this is just one of many theories.  That being said, I can see the logic.  Can you? The biochemist and nurse in me just can't let this go.

Took Longer Than I Thought

For me to burst into tears after today's assessments.  We did this study for the greater good- to benefit autism research.  There was no "personal" benefit for our family other than some financial compensation, which, while nice, was not reason enough to endure the things we have throughout the SEED study.  I have been at it for about a year now with this study.  I have done about 4 phone interviews and filled out countless surveys and sent them in.  Today was the final step- assessments for Nathan and lab work for him, me and John.  The lab work was the least painful part to be completely honest. 

There were about 2 hours of assessments for Nate and about 3 hours of "interviews" for mommy.  Daddy stayed with Nate during the assessments, so I don't know for sure how he was acting while they were trying to work with him.  It seems that he had a very stimmy day and they couldn't get much out of him.  This isn't really surprising- most kids don't perform to their potential in unfamiliar environments, and this is especially true when the child has autism.  And these people, never having met Nate, do not know his particular "catch phrases" (things that get his attention) or the best way to approach things with them.  I am beginning to realize that standardized testing in children on the spectrum is a joke.  Isn't the whole point that it's a spectrum and that these kids do not respond in typical ways?  The typical testing isn't going to show what Nate can do.  Or that's what I tell myself, and what I need to believe, especially today.

The interview was BRUTAL.  I mean, "does Nate look at you when you walk in the room?" "how about other people he knows?" "how about strangers"  "how about when he was 16 months old?".  That is just a BRIEF sampling.  For three hours.  Does he jump?  Does he hop?  How is his gait when he runs?  Does he hold a spoon "appropriately?"  Well the food almost always ends up in his mouth.  Almost every social and developmental scenario you can think of was addressed.  My brain literally hurt when it was over.  And also, I was extremely depressed.

When they reviewed the results, we got the same sympathetic look as always before the examiner started.  I even told her, "hey it's ok, we're used to this by now."  Think again.  They assessed that Nate has regressed by 4 months since his last assessment 6 months ago.  I'm sorry, but I really don't think so.  I mean, I don't THINK so.  Then I start second guessing myself.  Is he doing worse?  Because saying he regressed 4 months in the last 6 actually indicates 10 months of loss if you see where I am going with that.  Because he should have gained 6 months in 6 months right?  But if they are saying he lost 4.....

I called my mommy- what else is a girl to do? She called bull pucky.  And I think I agree.  I think that the testing environment severely affects a child with autism, as does the identity of the tester.  I think that his teachers in his school know better when to persevere and when he truly can't do something.  And I need to try and keep that in mind.  This just left a really bad taste in my mouth....

The greater good is great, but our good is important too.  I am taking a break from "extra" assessments for my kids for awhile unless there is some true benefit for them- like therapy or a medicine.  This whole, "yep, your kid still has moderate to severe autism" thing really wears on you, you know? 

Dusting Off and Getting Back Up...



Right before we left for the TACA conference I got an email from Nate's teacher.  It felt like I was being dealt a huge blow.  And I can't really explain why.  In her email, she said that she was trying to "plan" for next year.  And that she felt strongly that Nate would benefit greatly from, wait for it, "additional adult support."  In case you've missed it, I have been all but begging for this for Jack this entire year (and yes, we have it).  And now it's being handed to me on a silver platter for Nate.  1:1 support in the classroom.  So why does it feel so unbelievably crappy?  I have been struggling with that for the past several days.  I think I was just hoping that Nate could get through this program without needing extra help (any more than he's already getting).  Frankly, I didn't even know that extra help in a classroom that is already special education by definition was an option.  I thought that he was getting exactly what he needed.  And now I am hearing that it's still not enough for him.  It could be worse, he's not being transferred to the "special school".  Not yet.  They apparently still think that he can succeed in his current setting.  So that's good.  But as with any discouraging news related to the boys, it feels like a knife in my heart.  Of course I want to hear that he's making great strides and blowing his teachers away.  So I need to bring my expectations and hopes down a notch....for now.  And I need to refocus on what I can do. Time to pick myself back up and get moving.

This past week was excellent in terms of gaining new knowledge.  As I mentioned in my last post, I feel pretty overwhelmed.  I feel that familiar panic that comes on whenever I realize how much I want to do in my efforts to help the boys.  And I want to do it all RIGHT NOW.  I know this is of course impossible.  Step by step. 

One of the first things we need to do is take our gluten and dairy free living a few steps further.  Eating crappy gluten and dairy free junk food does not help the kids much more than eating regular stuff.  Especially with Nate's yeast issues.  As Dr. Usman said at the conference, we need to go "caveman".  What does this mean?  Think meat, protein, veggies, fruits. Fewer pretzels, cookies, sweets, snack food in general.  Carbs are carbs, gluten free or not, and yeast feeds on sugar.  That was the premise of Nate's previous regimen, the specific carbohydrate diet.  I'm not planning on taking it back to that level.  Just fine tuning some.

Another huge issue is our food source.  We need to be very careful about this- these kids are clearly unable to clear toxins in the same way as the "typical" kid.  Things just affect them more.  Meats and eggs need to be specifically growth hormone and antibiotic free.  I mean, I am supposed to give Nate nystatin when he is on antibiotics right?  So if he is getting meat or chicken that has been given antibiotics, he basically should just be on nystatin forever?  We have found a dairy, courtesy of a mommy friend, that delivers fresh meat, eggs, chicken, dairy, yogurt, butter, etc as often as weekly for a less than $5 charge.  I "applied" for service today, we just have to ensure that we are on one of their routes.  Also, plan on seeing me at the farmer's markets this summer.  Even organic fruit that is stored in plastic can be leaching chemicals from the plastic.

Which brings me to my next point.  We are going to eliminate plastic as much as possible.  And this is for selfish reasons, not because I am protecting the environment, although that's a nice added bonus.  It's because of all of the chemicals that can leach into the nice fresh food we are providing.  Yes, most things are bpa free now, but there are other chemicals in plastic, plenty of things to avoid.  Why go to all of the trouble of going organic if we just pop this healthy food in plastic?  Doesn't that defeat the purpose?

I never thought I would take this type of intervention so far.  I scoffed at all of the "clean living" stuff, the green containers, the safe cleaners, etc.  But Dr. Usman said something that just keeps echoing in my head.  I think it will have the same effect on my readers.  She said "There is no such thing as a genetic epidemic."

It would take hundreds of years for the incidence of autism to increase as greatly as it has in the U.S. in the past 20.  Here are a few articles related to this:

http://www.autismcharlotte.com/reports/

http://www.foxnews.com/health/2013/02/05/can-autism-be-prevented/

http://americannutritionassociation.org/newsletter/dr-usman-autism-0

So once again I am confronted with that whole darned concept of....why the hell not?  How much more effort will it take for us to make these changes?  And as always, one of my biggest considerations is, will this hurt them?  Absolutely not.  It will help them, and it will help me and my husband. 

Some people think that all of these theories are ridiculous.  I beg of them, please give me some other explanation for what is going on with my boys.  Please tell me what YOU think is going on.  That's right.  No one seems to have a logical explanation for the explosion in numbers.  And I used to think "oh it was just under diagnosed before". Bull pucky.  If someone had seen Nate 15 years ago, they would NOT have looked at him and thought, oh he's just a late talker.  He would have been diagnosed.  No doubt in my mind.  It is clear to me that the incidence of autism truly is increasing at the rate that's being reported.   So bye bye antibiotic fed meat, plastic, carbs.  If you are on the list of possibilities, you are not welcome here any more!

Just Keep Swimming

What a crazy busy couple of days this has been.  After yet another migraine filled weekend I was frankly worried that I couldn't get everything done these past few days.  But as always, I muddled through.  Not that the week is over, but the worst is.  Sometimes I feel like Dory from Finding Nemo- Just keep swimming...  At 8:30 yesterday morning we met our family photographer at a park for portraits- while I have been dreading this, it was also hugely important to me.  I wanted to recognize and celebrate our little family and our survival after the past year.  We even did some shots of just John and me, first time we've done that since our wedding.  That part was really nice.  Nate was incredibly fussy the whole time- granted it was freezing outside, but I had both boys layered to the max and thought they were rather cozy.  It was breezy, and Nate even cried when we put him on the swings.  The only ways I could get a smile were to throw him up in the air or alternately squat down on the ground and run at him really fast.  Seriously, I am sore today.  Our photographer Heather is amazing and I am sure she managed to get some good stuff. 

After that we had an 11:30 appointment up at our boys' autism specialist Dr. Brenner. Literally on the drive over Nate developed sure fire symptoms of pink eye- by the time we got there my poor boy was crusty.  That wind must've hurt so much!  Poor buddy.  We hadn't seen Dr. Brenner in several months and I knew the appointment would be jam-packed.  I have to touch once more on just how amazing this man is- he spent over 2 hours with us- now granted he took all of his calls while meeting with us, filled out requisitions and ordered his lunch.  I am completely great with that- his time is valuable and the fact that it was an "insurance covered" visit means that it should have lasted no more than 15 minutes for each child.  Clearly he does not subscribe to this guideline, at least not with his kids on the spectrum.  He went through all the lab results, there were several interesting things.  They do both have the MTHFR gene- as he stated, many many people have this, it's only in the past 15 or so years that it has become a "problem".  There are many theories about this, but the bottom line is that most professionals think it has to do with environmental exposure- BPA, antibiotics, vaccines, contaminated water and soil, just to name a few triggering the issues this gene mutation can cause.  He did prescribe a form of folic acid that is further broken down- leucovorin.  Hearing this medication name made me freeze up for a second- it's a drug I used to give IV to my oncology patients when they were receiving certain chemotherapies.  It basically guards their bodies from harmful effects of the chemo.  That is where this drug is catalogged in my mind.  Time to reframe.  So that was one of the MANY changes he made to the boys' regimens.  More labwork, including urine.  He increased Nate's dose of methyl-B12, asked me to try it with Jack as well.  I am worried sick about giving Jack injections, but it is what it is.  We can do just about anything we put our minds to as a family.  He also prescribed something called MSM for both boys, told me to increase their P5P, start them both on GABA, and start transdermal glutathione.  Oh and just in case I wasn't about to pass out, he would also like me to try adding the Feingold diet.  This eliminates all synthetic coloring, artificial flavors and preservatives and all phenols.  Since we do most of this, doesn't sound so bad- except that phenols are basically in most fruits- apples, berries, grapes, oranges, peaches, plums, tangerines.  Jack's favorite foods. Awesome.  Not feeling the motivation on the elimination of fruits.  Sigh.  Jack's hair samples came back with high levels of mercury.  One of the urine tests should confirm this.  This was the opposite of what I was expecting- thought it would be Nate, if only one of them.  Jack had an incredible amount of dental work about a year ago due to an enamel defect, and now John and I are wondering about what type of fillings they used on him.  Further investigation of this is needed. 

After that appointment, I went home and put in a half day of work.  Went to bed early as today was a full work day, another md appointment for Jack, and squeezing in voting.  Then last night, the shit hit the fan.  Both boys were up off and on all night.  Sleep has been becoming more of an issue over these past few weeks again- Nate has been falling into a pattern where he wakes up at about 2:30 am and refuses to go back down- screaming until I come back in, like tantrum screaming.  I resolved last night that I was going to let him cry it out.  It usually takes 1 or 2 nights to get him back into his usual pattern.  Last night Nate had other plans.  After he woke up and I rocked him for a few minutes I put him back down and of course he started screaming.  Then I heard the usual thuds of him throwing everything out of the crib.  Then I heard a really big thud and a scream.  And Nate was out of his crib.  CRAP.  Just to be sure it wasn't a coincidence, I put him back in and watched him basically swing himself over the bars- no leverage, nothing to climb on, just sheer force of will.  And as I watched him I realized- I. am. completely. screwed.  I have no idea how I am going to keep my sweet baby in a bed.  We all know by know that his receptive language comprehension is extremely delayed, and I just don't think he will be able to grasp this concept.  However, safety first.  So down came the crib today- thank you so much John for doing this so I didn't have to sit and sob while I did it.  We were hoping to eek out another few months of him being our "baby".  It's all so bittersweet. 

Of course we had nothing prepared for this situation- so tonight he will be on his mattress on the floor.  A gracious mommy friend will be letting us borrow her toddler bed for a few weeks until I can get a bed for him. I don't wanna.  Does this really mean I don't have a baby anymore?  That just breaks my heart....

The good news is that this is what happened this evening since he didn't sleep last night....

The bad news is that I have no idea how long this will last, so I'd better hit the hay sooner rather than later.

Isn't he the most precious thing?  Sometimes I wish he could stay little forever...

Naked

When I take a chance in my life, when I allow myself to be vulnerable, I feel naked.  Frankly some of my posts on this blog have been so personal that I would have felt less exposed if I were naked.  And that's saying something.  There have been many times when I have been terrified to hit the "publish" button, afraid of mean comments, too much bad advice, you know, negativity.  It's never happened.  Never.  I have been in relationships in my life where I have felt constantly judged, never good enough, not pretty enough, not thin enough, not smart enough, not shallow enough to be accepted.  I never feel any of those things here.  I actually don't feel any of those things in the autism community in general.  Walking this road has taught me a lot about not judging others, their parenting, etc.  But it has also taught me quite a bit about feeling accepted myself.  It has brought me to a point where I will accept nothing less.  That's what I deserve, and that's what everyone deserves, including our children.  I feel surrounded by loving and supportive people- enough so that if someone isn't able to see me as a person of value, someone worth knowing, then I don't want to know them.  My previous tendency was to try even harder with people who didn't seem to "get" me.  Insecurity central.  And it backfired every time.  I don't have ongoing relationships with any of those people today.  If someone chooses to push my friendship away, hey, they must not want it!  How about that- simple concept, difficult execution. 

Anyway, there is a point to this.  I am incredibly grateful for all of the support, GOOD advice, and general discussions that this blog has generated.  I have enough readers at this point that someone responds to every post- and quite often makes a really good point, or offers support that I didn't know was available. 

My class with Nathan is turning out to be a similar experience.  I am really coming to look forward to Fridays for a whole new reason- I love learning new methods for communicating with Nathan, I always leave feeling incredibly uplifted and motivated.  And the other parents- that's the best part for me.  We are all very different- different ages, backgrounds, etc- but we have such a strong common bond.  As the weeks pass we are all opening up about our children, our families, our experiences with the autism community, different doctors, therapists, etc.  It's a whole new type of education.  There is one mom, whose son is in Nate's ABA class, who I chat with quite a bit.  The group was having a discussion about evaluations, genetic testing and other diagnostic tools and she revealed that her pediatrician told her that she needs to have her 6 month old son evaluated; that he is showing developmental delays already.  This doctor has not even met her older son who goes to a specialist, and was not aware that he is on the spectrum.  She welled up just talking about it.  I seriously wanted to wrap my arms around this woman who I barely know.  If finding out that one of your children has challenges is painful, finding out that another child is affected is excruciating.  All of the thoughts that run through a parent's head- how can I possibly get another child to all of these appointments, how can I possibly afford all of these appointments, what does this mean for my family?  And my heart just broke for her.  She then said that she wants to wait a few months and see if he catches up- my first inclination then was to jump across the table, shake her and say do it now!!!!  The earlier the better right?  But every parent has to go through this period- before they even know for sure that something is amiss- of mourning, of accepting what may be coming.  And I get that.  So all I said was, it won't hurt a thing, or cost a thing to have the school system evaluate him.  And early intervention won't cause him harm.  If they are willing to offer it, we should grab onto that right?  I hope she calls.  I don't know what they would do for a baby that is 6 months old- all I could think of was that if she doesn't call now, and he ends up having issues, she will beat herself up later, or at least I would.  What a huge thing to discuss with virtual strangers- but in that setting, we're not strangers at all.  We are very likely the only people who understand the magnitude of what she is saying.  The only ones who won't say things like "I'm sure he's fine".  Because we all know that statements like that will not make her feel better- nothing will make her feel better except hearing someone with credentials say that her baby is developing typically.  So I am saying some prayers for her and her family tonight, and I hope that you will too.  Pray for her little bambino and the best possible outcome for him.  And thank God that his mom is already so well connected within this community, she knows what to do for him.  While I'm at it, thank God for other parents with similar experiences, and thank God for all of you, who make "baring" it all much less intimidating.  I can't tell you how much it is appreciated. 

Hopkins Wants to Test My Kid's Immune Reaction to Mercury??

So yesterday I received yet another packet in the mail for the SEED study.  I am telling you, these people are thorough.  So thorough that even I think they are thorough, which is really saying something.  We scheduled our clinic visit yesterday, which will take place on October 30th and is expected to last 8 hours for John, Nate, and I.  I also dropped my 30 pages of questions in the mail this morning- phew.  Seriously I learned things about myself filling that sucker out.  Anyway, in the new packet was a discreet manilla folder that contained information on an ancillary study to the SEED study.  This is pretty common, smaller studies are often "tacked on" to larger ones in order to reach a larger population.  Usually it involves something like an extra vial of blood, or an extra assessment, something like that.  This one was labeled "Information Packet for SEED II ancillary study:  Genetic susceptibility for mercury-induced Immune Dysfunction".  Hmmmm......I say hmmmmm.  Wasn't it just a few years ago that Mark Geier was being ridiculed for his "false" study about thimersol (a component of mercury) in vaccines causing autism?

http://en.wikipedia.org/wiki/Mark_Geier

So I jumped on my friend Google to see what the latest word on mercury in vaccines is.  Here is one article I found.

http://www.naturalnews.com/035787_vaccines_autism_monkeys.html

Following this entry, of course there were about a thousand links saying that vaccines are perfectly safe.  I am not here to give my opinion at this moment- I cannot say for certain whether vaccines are a culprit.  My personal research study was conducted unwillingly and only had 2 subjects.  One of them received a hepatitis B vaccine on day 2 of life and cried for nearly 48 hours straight afterwards.  He has Asperger's.  The other was developing perfectly normally until 15 months of age, at which point he received a round of vaccines and regressed, then another round at 18 months of age, and regressed even further.  He has autism.  This is just my observation of my children as a mother.  And this could have nothing to do with it (do I believe that? nope).  There are so many different factors at play.  I have come to believe that it is a combination of genetics and environment.  Which is basically what this study is testing right?  Genetic susceptibility.  I am on board for that!  Why else would vaccines and other toxins effect some children so greatly and others not at all?  Here is a little information on the study:

Genetic Susceptibility to Mercury-Induced Immune Dysfunction in Autism & ASD

Summary

Principal Investigator: Ellen K Silbergeld

Affiliation: Johns Hopkins Bloomberg School of Public Health

Country: USA

Abstract: DESCRIPTION (provided by investigator): The overall goal of this research is to test the hypothesis that there are differences in response to the immunotoxic effects of mercury compounds in humans, and that susceptibility determinants are enriched in families with cases of autism/autism spectrum disorders (ASD). This research is relevant to understanding preventable risk factors for autism/ASD, based upon the hypothesis that mercury compounds by themselves do not cause autism/ASD but may contribute to the risks of autism/ASD through their immunotoxic properties, in combination with genetic susceptibility and co-exposures to other risks, such as infections. Based upon extensive findings of genetically determined susceptibility to mercury immunotoxicity in rats and mice, we hypothesize that there is a range of susceptibility for mercury-induced immunotoxicity in human populations. We specifically hypothesize, based upon the experimental literature by us and others, that individuals within families with multiple cases of autism/ASD, will have heightened responsiveness to the immunotoxic effects of mercury compounds. The eventual goal of this research is to identify candidate genes that influence individual responsiveness to the immunotoxic effects of mercury compounds. In order to accomplish this goal there is a primary need to define the phenotype of mercury-induced immunotoxicity, which is the goal of this project. We will test in vitro responsiveness to mercury in PBMCs obtained from volunteers. Responses will be measured by FACS analysis of cell surface markers and by ELISA measurements of released cytokines. A dose-response curve will be carried out, in vitro, in order to determine the slope for each individual. Replicability will be assessed by repeat measures of the same individuals; method validation will be completed by analysis of a new set of individuals. The overall relevance of the in vitro system will first be tested by comparing PBMCs from men and women (cycling, in the luteal phase). In the second phase, we will test the hypothesis that patients with autism are more susceptible to mercury-induced immunotoxicity by comparing in vitro responses of PBMCs among family trios (autism cases plus parents) with unrelated controls. Accomplishing the goals of this project will be the first stage in developing a broader study of gene-environment interactions in autism, as well as a targeted search for candidate genes related to mercury susceptibility in humans.

Funding Period: 2006-08-01 - 2010-07-31

more information: NIH RePORT

Top Publications

1. Mercury induces an unopposed inflammatory response in human peripheral blood mononuclear cells in vitro
   Renee M Gardner
   Department of Environmental Health Sciences, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland 21205, USA
   Environ Health Perspect 117:1932-8. 2009

So the Hopper wants to tackle this?  I say have at it!  But I damned well better get the results of that test!