Vaccines and Genes
The April 1st CNN Money.com reviews the “recent brouhaha about 9-year-old Hannah Poling,” whose family received a settlement under the federal government’s Vaccine Injury Compensation Program “based on their claim that childhood vaccinations aggravated a rare metabolic disorder in Hannah, triggering autism symptoms.” Writer David Stipp notes that, in a 2006 survey, 54% of families claimed that vaccines caused their children to become autistic and comments on how proponents of such a view have “hailed the decision as unprecedented support” that vaccines or something in vaccines can be linked to autism and to rising autism rates, in despite of more and more scientific evidence that dispute an autism-mercury link. Herein lies, Stipp writes, “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.
Stipp highlights a number of recent findings about the genetics of autism, such as research on spontaneous or de novo mutations; disruptions in the gene contactin 4; CNTNAP2 as an autism susceptibility gene; and Chromosome 16. Of the last-mentioned, Stipp writes:
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.[my emphasis]
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.
Both “genetics/genomics” and “environmental influences and gene X environment interplay” are among the subcategories of research on “risk factors” in the NIH’s Autism Spectrum Disorder Research Portfolio. Genetics/genomics research has $20,670,059 in funding and $6,672,090 for research environmental influences and gene X environment interplay: Researchers are finding out about more and more about what genes can be linked to autism, but these efforts routinely receive less interest among the media and among some autism organizations (including some of those who have kept discussion about the case of Hannah Poling in circulation).
As Paul A. Offit, chief of the infectious diseases division of the Children’s Hospital of Philadelphia, wrote yesterday in the New York Times about the about the “damage already done” by the decision in the Poling case, now “more autism research money may be steered toward vaccines and away from more promising leads.” Certainly the excessive attention given to the issue of vaccines regularly threatens to overshadow the ever-pressing and present need to provide the best services, supports, and education for autistic children and adults.
While some worry about how a vaccine might cause autism in a child who is “not yet” autistic, I’m thinking, scheming, strategizing to the day when I won’t be able to drive Charlie to the grocery store and explain to him why we only need to buy one bag of frozen French fries; when Jim and I won’t be able to take him on walking treks in Brooklyn and Manhattan; when, after a hectic day that started at 7.45am, he started screaming out of nowhere and I said “sometimes it’s just tough” and he pulled on his pajamas and lay moaning on his bed and I rubbed his back until he told me “bye mom” and I went out and after five minutes, heard him talking about McDonalds happily to himself; when we won’t be able to explain to the doctors how he responded to this or that medication. But what if there were a test that could determine what medications would help him without the slow and messy process of trying him on one, noting reactions, seeing things that were not desired occur, and weaning him off on medication before trying the next one? (Charlie can talk, but is not yet able to verbally explain how he feels.)
My son Charlie is not autistic because of a vaccine or anything in a vaccine. He’s done well because he’s had a lot of education since the time he was just two turning two (Charlie was diagnosed shortly after his second birthday; in retrospect—he had long before had subtle delays in his development.) He’ll do well because, or rather if, he continues to have more education and as more people—teachers and therapists—-understand that he’s not a damaged child, he’s a kid with a lot of needs and different ones at that.
And I guess this would be my goal for Autism Awareness Month, just to communicate this message: Charlie’s perfect and it’s my job—my daily task—to try to understand him and to help him best communicate about himself, in whatever ways.
Tags: asd, asperger, autism, biology, biomarker, Diagnosis, dna, Environment, funding, Genetics, Health, nih, pdd-nos, Science, VaccinesRelated Stories
POSTED IN: Cause, Environment, Food and Diet, Fragile X, Genetics, Insurance, Medicine, Money, Science, Vaccines
14 opinions for Vaccines and Genes
Laura
Apr 2, 2008 at 7:38 am
This was a fantastic post!! You said it very well…
I have been debating about how and who to tell among our family and friends about the recent diagnosis of autism our daughter received. After two really ignorant comments yesterday from strangers about autism, I realized that what has helped me understand autism the greatest are the stories of other people. If we don’t share our story (in a way that honors and respects my daughter), then we’re only helping to perpetuate the ignorance in a way.
Last night, I told all our family and friends on a family website. I will begin to regularly write about autism, not so much about how it affects our daughter, though that will be present in my writing, but also bringing to our family’s attention the beautiful stories of people that are actually living with autism in all sorts of “normal” ways, without all the Autism Speaks drama of how terrible autism must be and look before it’s truly present in someone’s life. And how we, as our child’s parents, are looking for exactly what you said at the end…
“And I guess this would be my goal for Autism Awareness Month, just to communicate this message: Charlie’s perfect and it’s my job—my daily task—to try to understand him and to help him best communicate about himself, in whatever ways.”
RAJ
Apr 2, 2008 at 8:31 am
“Stipp highlights a number of recent findings about the genetics of autism, such as research on spontaneous or de novo mutations; disruptions in the gene contactin 4; CNTNAP2 as an autism susceptibility gene; and Chromosome 16″.
Not one of these findings is actually specific to what has been labelled ‘autism’. They have also been reported in people diagnosed with mental retardation, schizophrenia, specific language disorders, learning disorders, ADHD and other neuropsychiatric conditions but who do not have enough items checked off on any of the diagnostic toolsets to qualify for an ASD diagnosis.
It was in 1994 that the re-branding of autism began when Kanner’s highly specific description was dropped completly from all diagnostic toolsets and replaced by the ambigous and subjective ‘deficits in social reciprocity’.
All of the items contained in DSM-IV are non specific to the autism brand. Kanner wrote in 1965 that the concept of what autism is, what he called the ’sui generis’ of infantile autism, had resulted in misdiagnosis of the condition and he wrote that ‘ a multitude of autistic children began appearing everywhere’, what could be described as the first autism epidemic, where children with one or more isolated nonspecific symptoms were then being given a ‘fashionable autism’ label.
The branding of autism as a genetically transmitted condition has failed to pass the ‘correlation equates to causation’ test.
Another Laura
Apr 2, 2008 at 12:46 pm
Amen. Great post.
Kristina Chew, PhD
Apr 2, 2008 at 1:32 pm
@RAJ,
Sometimes I think that writing the history of autism involves writing the history of psychiatric diagnosis—–not that that hasn’t been done—-
RAJ
Apr 2, 2008 at 1:50 pm
Her is another example of the branding of ‘autism’.
Schizotypal personality disorder:
http://www.mentalhealth.com/dis/p20-pe02.html
There is not much if any difference between the diagnostic criteria for SPD than there is for Asperger Disorder. In fact, the prevelance of SPD in the UK has dramatically declined with the publication of DSM-IV and the introduction of Asperger Syndrome to the DSM vernacular.
There is nothing inherently wrong with overdiagnosing or actually misdiagnosing ‘autism’ in terms increased passkeys to access to special services which is exactly how Eric Schopler described it.
The problem is that scientific research into prevention and treatment becomes unmeasurable when a host of unrelated neuropychiatric conditions are all lumped under one tenuous umbrella.
One of the more headscratchimg diagnostic schemes (DSM-IV 1994) that differentiates PDD/NOS from autistic disorder is that under PDD-NOS the child is not ‘autistic’ although they may have enough isolated nonspecific symptoms shared by many developmental disorders to qualify for an ASD diagnosis.
The entire autism epidemic can be explained in the startling jump in prevelance rates for PDD/NOS and Asperger Syndrome while the prevelance of Autisitc Disorder has remained relativel steady.
Thorton
Apr 2, 2008 at 1:53 pm
Is the theory that genes that indicate a predisposition are triggered by environmental factors?
Have these genes always been around and the environment has changed?
Or Are the genes suddenly showing up?
Or both?
RAJ
Apr 2, 2008 at 7:18 pm
Autism genetic theorists imply that genetic variants cause autism. Correlation do not prove causation.
No genes that cause autism have ever been identified, none.
In a gene - environment model there is a genetic component and and an environmental component.
This has been clearly demonstrated in genetic variants found in individuals who are susceptabile to infection after exposure to an environmental pathogen. Leprosy and HIV are the most proven:
http://www.sciencemag.org/cgi/content/abstract/1101160v1
There are many genetic variants found to occur in higher rates in autistic people than the general population.
There are many pre peri and neonatal insults that have been found to occur in the medical history of autistic people at higher rates than has been reported in the general population.
The challenge is to match specific genes to specific insults, which will take decades to begin to unravel since there is a lack of specificity found in both the genetic and environmental components in autism.
Leprosy and HIV are relatively simple to unravel because, unlike autism, there is a single environmental insult.
Kristina Chew, PhD
Apr 2, 2008 at 8:25 pm
@ Laura and another Laura,
“I realized that what has helped me understand autism the greatest are the stories of other people.”
Yes—-this is exactly what has helped me the most, the stories.
I used to write daily about my son on a weblog called Autismland. For almost 2 years, starting in June 2005, I just tried to write a simple account of what Charlie did (and with a photo). Gradually I moved into writing more about “issues” and started to interweave writing about Charlie. I had started to feel that it was time that I stepped aside from telling so much of his story.
I’ve been in touch with some other parents (mostly mothers, some autistic themselves) for almost three years and it’s the stories that sustain. I have my quibbles with the likes of David Kirby because the story that he is telling doesn’t seem to touch that concrete dailiness, the shiny stickiness on the floor across from me from something Charlie ate. I’m fascinated by the discussions and research and science about autism but they lack the technicolor 3-d ness of a good story; a real story.
btw, Laura: my family have been regular readers of my blogs from the beginning. They all live in California and one aunt noted to me that it really helped her to, finally, understand what our daily lives are like. It means a great deal to me to know they (and you) are reading.
Thortong
Apr 2, 2008 at 11:36 pm
Let me rephrase my question a little.
What is causing the sudden increase in autism rates?
Sudden changes in environment or sudden changes in genes or both?
Kristina Chew, PhD
Apr 2, 2008 at 11:46 pm
@Thortong,
Sorry I have taken so long to respond—-briefly (and many will disagree with this), I think that better diagnosis and understanding have a lot to do with rising rates, along with changes in how autism is defined and diagnosed.
This is not the view, as you know, of many on the internet!
Thorton
Apr 3, 2008 at 11:44 pm
I agree that better diagnosis is a factor. Though, I don’t believe it explains most of it. A jump from 1 in 1000 to 1 in 150 in a matter of a couple of decades would seem to be something more than just noticing it better.
Kristina Chew, PhD
Apr 4, 2008 at 1:04 am
I used to think that, but then I learned more about what was behind the jump, and how “autism” itself is not a static category.
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Apr 11, 2008 at 2:41 am
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