Recent Poling Case Media Coverage

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Registered: 11-05-2003
Recent Poling Case Media Coverage
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Wed, 04-23-2008 - 2:46pm

Tracing autism's roots
Move over vaccines. The most promising research into the disorder is emerging from the quest for the genes that underlie it.
By David Stipp, contributor

(Fortune) -- Do vaccinations cause autism?

Despite the fact that one major study after another has answered no since the issue came to the fore around 2000, 54% of parents of autistic children in a 2006 survey said the answer is yes. In fact, the parents named vaccines more frequently than any other suspected cause.

It's likely that even more parents blame vaccines now in the wake of the recent brouhaha about 9-year-old Hannah Poling. The government agreed that her family was entitled to a settlement from a federal vaccine injury fund based on their claim that childhood vaccinations aggravated a rare metabolic disorder in Hannah, triggering autism symptoms.

Anti-vaccine advocates hailed the decision as unprecedented support for their view that either thimerosal, a mercury-based preservative once widely used in vaccines, or the vaccines themselves, are behind many cases of the brain disorder.

Federal health officials countered that the Poling case says nothing in general about autism and vaccines - they're concerned about parents refusing immunizations for their kids. Hannah, they noted, has been diagnosed with a genetic defect in her mitochondria - energy dynamos within cells. The mitochondrial disorder can cause a form of autism, and its symptoms often aren't apparent until stress, such as a fever, overtaxes energy-deficient cells. Vaccinations occasionally induce fever, hence the ones Hannah got as a toddler may have combined with her disorder to bring on signs of autism. Or they might not have - Hannah had a history of ear infections, and the associated fever might have aggravated her mitochondrial disorder.
Complex genetics

The ruckus highlights one of the great ironies surrounding autism: While anti-vaccine groups and thousands of anxious parents are fixated on a single environmental factor - vaccines - as a possible cause of autism, most of the exciting insights on its causes in recent years have come from the study of its complex genetic underpinnings.

The quickening quest for genes underlying autism promises both to improve diagnosis and treatment, and to help resolve burning questions about the disorder, such as why surveys suggest it is three times more prevalent in New Jersey than in Alabama.

The central role genes play in autism became manifest after scientists realized about two decades ago that there are different forms of the disorder involving varied sets of genes. Called "autism spectrum disorders," or ASDs, they include Asperger's syndrome, which causes social deficits but not the cognitive delays usually associated with autism.

Using this broad definition in studies of twins, researchers have repeatedly shown that if one identical twin is diagnosed with autism, the other has about a 90% chance of developing an ASD. Geneticists have concluded from such studies that most, and perhaps the great majority, of ASDs involve a genetic component.

There is a new wrinkle to the genetic research however. Based on family studies, scientists have long characterized autism-linked genes as "heritable." But recent research shows a surprisingly large number of mutations tied to autism are "de novo" glitches that arise spontaneously in children whose parents don't carry them.

Such spontaneous mutations have come to light by studying so-called "structural changes" in the genome, which, if DNA's chemical letters were arranged in book form, would consist of largish mistakes such as duplicated and missing pages. A recent study that got much less attention than the Poling story showed that 7% of kids with autism carry structural changes not found in their parents, compared with less than 1% of such glitches seen in the general population.

"This is really exciting, and a lot of people haven't picked up on it yet," says geneticist Stephen Scherer, a co-author of the study at the Hospital for Sick Children in Toronto.
Spontaneous mutations

It's likely that many more such changes will be linked to ASDs as researchers examine a wider array of cases with new gene-scanning tools. Some researchers even theorize that the majority of autism cases stem from such spontaneous mutations.

Why would genes linked to autism be so mutation-prone?

Consider a mutation on chromosome 16 recently tied to autism. The glitch is in a DNA region containing so-called "morpheus" genes, which changed very rapidly as evolution produced ever brainier apes. The genes may well help shape cognitive capacities specific to apes and humans, including ones affected by autism.

Since fast mutation goes hand in hand with fast evolution, it's likely that the new autism-linked gene lies in a DNA "hotspot" prone to spontaneous mutation. In short, the same phenomenon that helped to rapidly evolve our braininess may contribute to autism.

For all geneticists' excitement about such discoveries, few if any of them rule out environmental contributors to autism, such as exposure to certain drugs, chemicals or infections during pregnancy. As Hannah Poling's case suggests, environmental factors may conspire with predisposing genes to bring on autism.

But pinpointing the culprits among the tens of thousands of possible environmental factors - everything from air pollutants to ultrasound examinations during pregnancy to multiple immunizations given to kids all at once - is a monumental problem that could take decades to solve with traditional human studies. Parents of autistic children can't wait that long.

But gene research is helping on this front too, by speeding the quest for environmental contributors. For instance, researchers are developing various mouse models of autism by mimicking mutations linked to the disorder in the rodents. Such animals are very useful for testing suspected environmental contributors to autism.
Early intervention

Genetics research should also help explode the myth that the effects of ASD-susceptibility genes are set in stone. By helping to identify the disorder during infancy, genetic tests promise to enable early intervention that wards off some of autism's worst effects. (Autism usually isn't diagnosed until speech delays or social deficits surface after infancy.)

By teaching parents how to bolster social engagement in babies with ASD-susceptibility genes - for instance, by removing distracting objects so that a parent's face is the most salient object in a baby's visual field - "you might even be able to prevent the full syndrome from emerging," says Geri Dawson, chief science officer of Autism Speaks, an advocacy group based in New York. Toronto's Scherer adds that his team's genetic research has already led to early interventions in several cases involving families participating in studies.

Tricky questions remain about interpreting tests for autism-linked genes. But several companies, such as Mukilteo, Wash.-based CombiMatrix, France's IntegraGen SA and Melville, N.Y.-based Population Diagnostics Inc., have already introduced such diagnostics or announced plans to develop them.

Over time such tests will enable ever more precise classification of autism cases according to underlying causes. Among other things, that should help researchers sort out what's driving the extraordinarily high prevalence observed in areas such as New Jersey. Even better, it will provide a way to detect the special vulnerabilities of kids like Hannah Poling before symptoms appear - and perhaps even keep such children out of harm's way.

http://money.cnn.com/2008/03/31/magazines/fortune/autism_roots.fortune/?postversion=2008040104

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Registered: 11-05-2003
Wed, 04-23-2008 - 2:48pm

Will a 9-Year-Old Change the Vaccine Debate?
INSERT DESCRIPTIONHannah Poling (W.A. Harewood/AP)

There’s no question that the case of 9-year-old Hannah Poling of Athens, Ga., has fueled the controversy about childhood vaccines. But what’s less clear is whether it will help unlock the mysteries of autism.

Hannah was 19 months old and developing normally until 2000, when she received five shots against nine infectious diseases. She became sick and later was given a diagnosis of autism.

Late last year government lawyers agreed to compensate the Poling family on the theory that vaccines may have aggravated an underlying disorder affecting her mitochondria, the energy centers of cells. (To read more about the decision, click here.) Vaccine critics say the Hannah Poling settlement shows the government has finally conceded that vaccines cause autism. But government officials say Hannah’s case involved a rare medical condition, and there is still no evidence of a link between vaccines and autism.

Hannah’s father, Dr. Jon S. Poling, a practicing neurologist in Athens and clinical assistant professor at the Medical College of Georgia, says the case has shifted the autism debate forever and points to a promising new area of research.

Writing in The Atlanta Journal-Constitution on Friday, Dr. Poling says there is compelling evidence that mitochondrial disorders, like the one his daughter has, are strongly associated with autism.

To understand Hannah’s case, it is important to understand mitochondria, which act like batteries in our cells to produce energy critical for normal function…. Emerging evidence suggests that mitochondrial dysfunction may not be rare at all among children with autism. In the only population-based study of its kind, Portuguese researchers confirmed that at least 7.2 percent, and perhaps as many as 20 percent, of autistic children exhibit mitochondrial dysfunction. While we do not yet know a precise U.S. rate, 7.2 percent to 20 percent of children does not qualify as “rare.” In fact, mitochondrial dysfunction may be the most common medical condition associated with autism.

Dr. Poling urges the Institute of Medicine and public health officials to pursue research into mitochondrial conditions, which he describes as a “breakthrough in the science of autism.'’ He writes:

National public health leaders, including those at CDC, must now recognize the paradigm shift caused by this biological marker with regard to their current position of dispelling a vaccine-autism link. In light of the Hannah Poling concession, science must determine more precisely how large the mitochondrial autism subpopulation is: 1 percent, 7.2 percent, 20 percent?

To be sure, many health experts do not agree with Dr. Poling’s conclusions. The case has “added nothing to the discussions of what causes or doesn’t cause autism,” said Dr. Edwin Trevathan, director of the National Center on Birth Defects and Developmental Disabilities at the Centers for Disease Control and Prevention.

On Friday, many of the main players involved in this debate — including Hannah’s mother and her grandparents, prominent vaccine skeptics and some of the government’s top vaccine researchers — took part in the federal government’s first-ever public meeting to discuss a government-wide research agenda to explore the safety of vaccines.

To read Dr. Poling’s complete essay, click here. Last month, Dr. Paul A. Offit, chief of the infectious diseases division of the Children’s Hospital of Philadelphia, explained his view that the Hannah Poling case has been mischaracterized by vaccine critics. To read the piece, click here. Hannah Poling’s parents wrote this response to Dr. Offit’s report. Last month, The Atlanta Journal-Constitution wrote this profile of Hannah and her parents.

Note: To read additional comments from Dr. Poling, see comment #103.

Dear TTP,

I appreciate your writing regarding the ongoing vaccine-autism debate. Some commenting on your nicely written article are commenting without actually reading the opinion essay written in the AJC. My point is that MORE research is needed, especially with regard mitochondrial dysfunction as a biological marker for a subset of autistic individuals.

As opposed to embracing this advance, many are attacking the mitochondrial findings because (in some cases) the road may lead back to vaccines or go against years of research stating that Autism is a brain only disorder. In addition to the mitochondrial data, the other pathway not being given its federal funding due is the immune/inflammatory abnormalities seen in autistic brains up to the age of 47 in autopsy specimens. True scientists follow the data even if the results may lead to unpleasant findings. As the late Bernie Rimland said (I don’t think it was an original quote), “Follow those that seek the truth, and run like heck from those who claim to have found it.”

Until science can better define susceptible subpopulations, at the risk of incurring the wrath of anti-vaccine advocates, maybe we need a Required ‘vaccine schedule.’ This mandatory schedule, would space out shots at least several months and not co-administer more than 2 at once. Beneath the ‘tier I’ required schedule would be a recommended ‘tier II’ schedule, maybe required by the age of 3 or 5 to attend school or daycare. Just an idea, I’m sure there are several flaws here. The CDC folks are being disingenuous when they say the current AAP/CDC is ‘flexible’ because any pediatrician going off the reservation opens themselves up to liability.

All three of our children are fully vaccinated except Hannah didn’t receive her second MMR (her antibody titers were still very high). I am pro-vaccine; but we need better government safety mechanisms in place. For those interested in an interesting risk-benefit debate regarding a potential breakthrough vaccine, read about the Alzheimer’s vaccine “AN-1792.” Personally, if I had Alzheimer’s I would risk death to take this vaccine; but with child vaccines, the burden of safety must be much higher.

One should also read Dr. Bernadine Healy’s (former NIH director) opinion article in US News WR.

For those that don’t think Hannah has autism, she just had a major outburst yesterday after the GA Walk for Autism, banging her head and biting her hand until she was bleeding. This morning though is a good day, we just played checkers, had nice goal directed conversation, and she beat me! Now she’s back to going in circles. What a mysterious syndrome (not disease) this autism is– thank-you Hannah for raising the bar on the debate.

Sincerely,

Dr. Jon Poling

FROM TPP — Thanks Dr. Poling for adding further to the discussion, and for reminding us that all your children have been vaccinated. Here is the link to the piece you mentioned, written by Dr. Bernadine Healy, former director of the National Institutes of Health. Click here. I wonder, too, Dr. Poling, if part of the reason many people doubt Hannah’s autism is that she is such a beautiful and engaging child in the photos we see of her. It is difficult to reconcile the behavior you describe with the charming picture of Hannah that accompanies this post. I think until you’ve walked in the shoes of a parent who has a child on the autism spectrum, it is difficult to understand the daily challenges parents like yourself face.

— Posted by Jon Poling

http://well.blogs.nytimes.com/2008/04/12/will-a-9-year-old-change-the-vaccine-debate/

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Registered: 11-05-2003
Wed, 04-23-2008 - 2:49pm

Father: Child's case shifts autism debate

By Jon S. Poling
For the Journal-Constitution
Published on: 04/11/08

Autism in the U.S. has reached epidemic levels, at 1 in 150 children. Dr. Julie Gerberding, director of the Centers for Disease Control and Prevention, has recently upgraded autism to "an urgent health threat." The most contentious issue of the autism debate is the link to routine childhood vaccines. My daughter's case, Hannah Poling v. U.S. Department of Health and Human Services, has changed this debate forever. Hannah has pointed us in a new and promising direction —- the mitochondria.

On Nov. 9, 2007, HHS medical experts conceded through the Department of Justice that Hannah's autism was triggered by nine childhood vaccinations administered when she was 19 months of age. This concession was granted without any courtroom proceedings or expert testimony, effectively preventing any public hearing discussing what happened to Hannah and why. Contrary to some reports, the Special Masters, "judges" who preside over the "vaccine court," did not issue a decision.

Four months later, on March 6, with trepidation my wife, Terry, and I stepped forward to announce this news —- providing hope and awareness to other families. The HHS expert documents that led to this concession and accompanying court documents remain sealed, though our family has already permitted release of Hannah's records to those representing the almost 5, 000 other autistic children awaiting their day in vaccine court.

Mitochondria key

To understand Hannah's case, it is important to understand mitochondria, which act like batteries in our cells to produce energy critical for normal function. Because the government's concession hinged on the presence of Hannah's underlying medical condition, mitochondrial dysfunction, some claim the decision is relevant to very few other children with autism. As a neurologist, scientist and father, I disagree.

Emerging evidence suggests that mitochondrial dysfunction may not be rare at all among children with autism. In the only population-based study of its kind, Portuguese researchers confirmed that at least 7.2 percent, and perhaps as many as 20 percent, of autistic children exhibit mitochondrial dysfunction. While we do not yet know a precise U.S. rate, 7.2 percent to 20 percent of children does not qualify as "rare." In fact, mitochondrial dysfunction may be the most common medical condition associated with autism.

Biological markers

Although unlikely, if the Portuguese studies are incorrect and mitochondrial dysfunction were found to be a rarity occurring in less than 1 percent of all autism, it would still impact up to 10,000 children (250,000 worldwide), based on current estimates that 1 million people in the U.S. (25 million worldwide) have autism. If, on the other hand, the research showing that 7.2 percent to 20 percent of children with autism have mitochondrial dysfunction is correct, then the implications are both staggering and urgent.

Autism researchers do not currently understand whether mitochondrial dysfunction causes autism or is simply a secondary biological marker. Autism clearly has many different causes, and should really be separated into multiple autism(s). I propose that we clearly identify and research the subpopulation term of "mitochondrial autism," which is distinguished by its unique biological, but not genetic, markers.

Based on what we know now, it is time to follow the prestigious Institute of Medicine 2004 report regarding autism and vaccines:

"Determining a specific cause (for autism) in the individual is impossible unless the etiology is known and there is a biological marker. Determining causality with population-based methods requires either a well-defined at-risk population or a large effect in the general population."

A paradigm shift

When the IOM report was published, mitochondrial dysfunction defining an autistic subpopulation was not firmly established. Today there is no doubt that mitochondrial dysfunction represents a distinct autism subpopulation biological marker. I urge health officials and the IOM to embrace their own report and pursue this breakthrough in the science of autism. National public health leaders, including those at CDC, must now recognize the paradigm shift caused by this biological marker with regard to their current position of dispelling a vaccine-autism link.

In light of the Hannah Poling concession, science must determine more precisely how large the mitochondrial autism subpopulation is: 1 percent, 7.2 percent, 20 percent?

Based on the 2004 IOM analysis, if the mitochondrial autism subpopulation is found to be relatively uncommon, then all conclusions from prior epidemiological studies refuting an autism-vaccination link must be discarded. New studies then need to be performed exclusively with the mitochondrial subpopulation. If mitochondrial autism turns out to be common, then we could re-analyze the data from prior studies to determine if these studies were powered sufficiently based on a predicted effect size. If not powered appropriately, the conclusion refuting an autism-vaccine link would again have to be rejected. These statistical concepts are basic.

The current vaccine schedule, co-sponsored by the CDC and the American Academy of Pediatrics, injures a small but significant minority of children, my daughter unfortunately being one of those victims. Every day, more parents and some pediatricians reject the current vaccine schedule. In an abundance of caution, meaningful reform must be performed urgently to prevent the re-emergence of serious diseases like polio or measles.

Need for research

As a neurologist, I have cared for those afflicted with SSPE (a rare but dreaded neurological complication of measles), paralytic polio and tetanus. If these serious vaccine-preventable diseases again become commonplace, the fault will rest solely on the shoulders of public health leaders and policymakers who have failed to heed the writing on the wall (scribbled by my 9-year old daughter).

The mitochondrial autism scenario that my daughter has so eloquently painted has the CDC and public health experts logically cornered. Denial and fear tactics won't close Pandora's Box. Whether we find that mitochondrial autism is rare or common, there is urgent research left to be done to fully understand the interrelationship of vaccines, autism and mitochondria.

Reform of the vaccine schedule will be an important part of the solution, whether vaccines play a major or minor role in autism. Our public health agencies and programs need a reconstruction plan. Day one of the reconstruction hopefully starts at the Vaccine Safety Advisory Committee's Working Group, to be held at HHS headquarters today in Washington.

> Dr. Jon S. Poling is a practicing neurologist in Athens and clinical assistant professor at the Medical College of Georgia.

http://www.ajc.com/opinion/content/opinion/stories/2008/04/11/polinged0411.html

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Registered: 03-25-2003
Wed, 04-23-2008 - 3:14pm

From Scientific American:


http://www.sciam.com/article.cfm?id=vaccine-injury-case-offer


Vaccine Injury Case Offers a Clue to the Causes of Autism
Could a group of disorders involving the "power plants of the cell" explain why some vaccinated children develop autism but the vast majority don't?
TEXT SIZE: Decrease fontEnlarge font

By Nikhil Swaminathan



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Registered: 11-05-2003
Wed, 04-23-2008 - 3:24pm

Hey Judi,

I have seen this stated before "Hannah's mitochondria were already underperforming, so when she developed a fever from her vaccine, the increased energy requirements likely pushed them past their thresholds." But have not seen anything concrete to support that.

The same article said "In its November 2007 decision the vaccine court said that the inoculations Poling received in July 2000 worsened her underlying mitochondrial disorder (which was discovered nearly a year later) and led to brain disease that appeared as symptoms of autism."

So the mitochondrial disorder was discovered after the fact. What evidence has been provided that Hannah's "mitochondria were already underperforming"? Have you seen any information in this regards.

Hannah's case is undoubtedly full of questions and I hope it prompts more research into mitochondrial disorder and the role that may play in autism for some invidiuals.

Tash

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Registered: 04-09-2008
Wed, 04-23-2008 - 3:30pm

Read Dr. Poling's response to Offit's Op-Ed.

Rands

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Registered: 03-25-2003
Wed, 04-23-2008 - 4:08pm

So the mitochondrial disorder was discovered after the fact. What evidence has been provided that Hannah's "mitochondria were already underperforming"? Have you seen any information in this regards.


No, there is no 'evidence' persay because the parents had no reason to test for mito disorders before the regression Hannah had.


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Registered: 11-05-2003
Wed, 04-23-2008 - 4:21pm

Awww Judi,

ITA agree with you National Autism Week - it should 100% autistic individuals and "what can be done to help them lead better, more productive lives" I hope getting that rant off felt good!

"I agree, the case is interesting, but I am still very bothered that some believe this proves the vaccines cause autism theory. It really does not and it's not a victory. However, if it does start focusing on more research into genetic causes and defers research away from the vaccine aspects, I will be a happy camper. I am all for finding a cause, I just think that vaccines aren't the cause. Thankfully, the science so far is on my side...lol."

LOL, I don't know why people solely focus on the "vaccine causes autism theory". I've always been in the camp that vaccines maybe ONE of the MANY possible environmental triggers for autism theory with genetics playing the underlying role.

I'd truly like to see more genetic research but also a proper study of the vaccinated versus unvaccinated. ;) You had to see that one coming!

Tash

Avatar for suschi
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Registered: 03-27-2003
Thu, 04-24-2008 - 12:09am

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Registered: 03-25-2003
Thu, 04-24-2008 - 9:28am

Well, first of all, it's


Avatar for suschi
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Registered: 03-27-2003
Thu, 04-24-2008 - 9:41am

How prevalant was austim prior to mass vaccination?


I still stand by the need to continue to look at the vaccines as being involved.


Who knows what treatments may be disovered to help those with regressive and those like your child.


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