A CHRISTMAS GIFT FROM AUTISM SPEAKS

The reaction of NBC Chairman Bob Wright and his wife to their grandson’s autism was the same reaction many of us have; they decided to do something about it. Of course, the Wrights have more resources at their disposal than most of us. One thing that happened was a week of special reports several months ago on the NBC Nightly News and Today, which many felt gave too little exposure to the ongoing mercury controversy and biomedical treatments (with others, no doubt, feeling that any mention was too much). The other contribution by the Wrights was to found Autism Speaks, an organization that, thanks to its exposure on NBC, quickly became a fund-raising powerhouse.

Despite statements supporting research for biomedical interventions, Autism Speaks has, until recently, said little about environmental insults as a possible trigger for autism. Many saw this as an indication of its founder’s likely hesitation to offend the pharmaceutical industry that provides a major source of revenue for NBC. Perhaps those who thought that may have been a little hasty in coming to their opinions.

Autism Speaks recently issued a very balanced statement concerning a possible connection between mercury and autism. That statement reads, in part:

The body of evidence gathered through epidemiologic research to date does not currently support a causal relationship between thimerosal in childhood vaccines and autism risk. However, it is very difficult for even the best epidemiologic study to rule out the existence of small susceptible subgroups of children with autism in whom thimerosal exposure may have played a causal role. Unfortunately, there are currently no means of identifying individuals with increased mercury susceptibility nor are there proven methods allowing researchers to separate individuals with autism into groups more or less likely to have different sets of causes.

The thimerosal question has highlighted a number of points whose further consideration should significantly advance autism research. First, although genes are believed to play a major role in autism, more attention needs to be paid to mechanisms where genes exert their influence by altering susceptibility to environmental exposures and mechanisms by which environmental exposures may alter gene expression. Second, there is a great need, when studying environmental exposures, to find ways of identifying highly susceptible individuals. And, third, because autism is a complex condition possibly having multiple causes, researchers need to find reliable ways to distinguish autism subgroups with distinct etiologies.

I interpret that statement to express an opinion that the science is not yet at a point where a causal connection may be drawn, which, admittedly, implies that a connection may not be there to discover. Yet the statement also emphasizes the key element of genetic susceptibility that has not received enough attention from scientist for the hypothesized connection to be fully explored.

In its statement, Autism One spells out what it intends to do about helping us all move closer to resolving the controversy:

Autism Speaks plans to strongly support a multidisciplinary research agenda on environmental exposures and autism. We believe that projects acknowledging the role of gene-environment interaction and incorporating markers of exposure susceptibility and etiologic heterogeneity will be the most productive in the long-term. Given present knowledge, there is a fairly broad array of neurotoxic environmental exposures worthy of further study but, moving forward, the type and timing of exposures under investigation should continue to comport with emerging developments in autism neurobiology.

I feel the above expression of commitment should be welcomed. We need to look at the processes at work rather than focusing on a single hazard. Moreover, approaching the issue from the standpoint of genetic susceptibility should lead to a complete answer that will help end the controversy. I happen to think the role of mercury -- including thimerosal exposure -- will be clearly implicated by the type of research Autism One suggests, but the main point is to find the truth.

Autism One is now inviting researchers to submit grant proposals to study a wide array of questions:

We recognize the need for new approaches to making an objective diagnosis of autism, studies to explore exposures that might trigger autism in susceptible populations, and the applications of the latest technologies to identify the basis for familial susceptibility to autism. Intensive behavioral therapies are generally accepted to improve the outcome of autism in some children, especially when begun in early life. Studies to build on these successes and to better understand the predictors of who may or may not respond to behavioral therapy, and what augmentations to current therapies might improve the success rate, are certainly appropriate. These are a few examples of areas that would benefit from additional investigations.

Autism One’s stated interest in looking at the complex interaction of genetics and environment is laudable. Here’s hoping they follow all the leads to find the truth.