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(DV) Dachel: The Search for the Elusive Autism Genes





The Search for the Elusive Autism Genes
by Anne McElroy Dachel
March 22, 2007

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Last month, the watchdog agency on America's health, the Centers for Disease Control and Prevention, made the official announcement that a breath-taking one in 150 kids is autistic in the US. They based this new rate on two studies done on eight year olds in 2000 and 2002. 

This new rate did not seem to be the least disturbing to CDC officials and we again heard the Really Big Lie About Autism -- that no matter how many autistic kids there are out there, they present no real increase in the disorder, just “better diagnosing by doctors” and “better statistics by the Centers for Disease Control.”

The 1 in every 150 revelation was followed by another breaking autism story: Recently uncovered evidence shows that autism is caused by “genetic flaws.” Over 120 scientists from 50 institutions who formed the Autism Genome Project (AGP) performed the research.

Headlines indicated a major scientific discovery:  The New York Post had “Gene Foul-ups Eyed in Autism,” the Boston Globe posted “Gene Flaws Found in Patients with Autism,” and the Baltimore Sun announced “Autism's Roots Mix of Chance and Genetics.” Scientists who for so long have been baffled by this disorder that didn’t seem to have a definite cause, are now zeroing in on it.

To the casual reader, it appears that autism is inherited. After all, genes involve the traits passed on from one generation to another.  But wait, it's not that simple.

It's not just genes, but mutating genes and it's not just a few genes, but possibly a hundred genes may be involved.

Reporter Tom Paulson at the Seattle Post Intelligencer wrote, "Top genetics researchers in Seattle have found compelling evidence suggesting most cases of autism could be caused by errors in human DNA that are random and spontaneous rather than inherited." The article pointed to "genetic mistakes" as the reason that someone develops autism. 

Dr. Thomas Insel, director of the National Institute of Mental Health said the findings are "the strongest evidence so far that autism is a disorder caused by many different genetic abnormalities somehow converging later to cause damage along a common neurological pathway." Insel also told us, "These findings certainly complicate the search for genes contributing to autism." 

Lead investigator Dr. Jonathan Sebat referred to "glitches" or errors in the human genetic code, or genome, involving the loss or addition in the DNA.  Sebat also said that the new discovery "appeared to undermine the hypothesis that children's vaccines may cause autism. These genetic changes are found in every cell and so must occur close to conception. A vaccine administered after birth could not have such a comprehensive impact."

Sebat implied that these genetic mutations were simply occurring by chance. Although he never mentioned what might have caused them, he sounded certain that the gene discovery disproves any link to vaccines, especially those with mercury.

Not so fast.  Not everyone in the scientific community agrees with Dr. Sebat. Dr. Ezra Susser, chairman of epidemiology at Columbia University's Mailman School of Public Health in New York indicated that he believed these findings would help scientists to understand how "the environment might lead to autism by causing genetic changes."

Susser said, "It shows us that we need to think about many environmental factors that might influence autism."

The new genetic findings on autism got a lot of coverage from major news outlets and reports made it look like we're on the cutting edge of a major autism breakthrough. 

That isn't true of course.  Autism isn't some medical mystery that’s always been around but we just haven't been able to get a handle on.  Most of the scientific community has ignored the explosion in autism.

Autism is currently an epidemic in the United States.  Autism is having a disastrous impact on our schools and autism threatens the future of our welfare system.  A once rare disorder is now so commonplace that everyone knows someone with an autistic child.  

Autism just can’t be an epidemic in the minds of officials because there’s never been a purely genetic epidemic in history. Genes don’t just spontaneously and randomly mutate all by themselves. There has to be an environmental agent affecting these genes. 

Dr. Peter Fletcher, former Chief Scientific Officer at the Department of Health in Great Britain, does call autism an epidemic and he asserts that the cause is environmental. Here is his explanation:

There is absolutely no doubt that in the USA and the UK the number of cases of autism being diagnosed has reached epidemic proportions.  

It has been suggested that this is not a real increase but is due to increased awareness and/or new classifications. If that is so then there must have been the same number of cases prior to the observed increase as there have been since. All efforts to identify these earlier cases in both the USA and the UK have failed. 

There are only two possible reasons for the absence of earlier cases.  They could all have been spontaneously cured in the intermediate period (which would strongly suggest that they were not autism cases) or they could all have died.  Both of these possibilities seem remotely unlikely.  The conclusion has to be that the increase is real.

There are only two possibilities to account for this increase. The cause could be due to an inherent or ‘internal’ patient factor or it could be an ‘external’ factor. For all practical purposes the only inherent cause would be genetic, either congenital from a parent or a gene mutation in the child.  Whichever may be the case it would necessitate the coincidental occurrence, in about the year 1990, of precisely the same genetic mutation in thousands of individuals in both the USA and the UK.  As far as I am aware this has never happened in the billions of years of evolution so this would be a first of monumental proportions. 

The observed increase in autism in such a short period of time (15-20 years) therefore has to be real and to have external causality.

At the present time the only plausible cause(s) may be attributed to vaccination/toxic substances/immune challenge. Could all those wise people who know better than others please come forward with their much needed plausible causes. We might then have a list of possibilities that can be tested by a well tried assortment of research methods.  This, in turn, would have a reasonable chance of solving our problems and bring the mindless bickering to an end.

It is of the utmost urgency that wide ranging research, with the aim of identifying possible external causal factors, be initiated without delay on an international basis. 

These genetic autism researchers have to go on as if mutations like this have always been happening to millions of kids around the world. If anyone did cite the explosion in the numbers, the advocates of a genetic model would have to address the cause.

CDC director Julie Gerberding announced the new autism rate of one in every 150 children with a flourish. She said that while there were more kids being diagnosed with autism, it doesn’t mean the autism was necessarily on the rise.  No one in the press seemed concerned that the CDC has been counting kids with autism for years and still can't tell us if there are actually more of them.

The articles with stories about the autism genes didn’t tell us that in the 1970s, autism affected one in 10,000 children and in the 1980s, one in 2,500 was autistic. 

Scientists who were quoted in the stories about gene study said things like, "This is exciting work" and "The findings are intriguing."  Experts indicated that there may be years of research ahead. 

The tone of the articles had all the urgency of scientists mulling over the question: "Is Pluto a Planet?" Nothing made it sound like this is a health care emergency affecting far more Americans today than the polio epidemic did in the 1950s.  

Meanwhile in the real world, countless families are leading lives of quiet desperation struggling with the emotional and financial burdens of raising children with autism. Schools are facing bankrupting costs trying to educate them.  

Almost every article covering the autism gene story described autism merely as a disorder that limited communication skills and social interaction. That definition doesn't come close to what many autistic children out there are like. 

It hardly covers the teenager with autism who is nonverbal and still in diapers, or the autistic kids in need constant care because they are violent or may simply run out into traffic.  It doesn't include all the other health issues that can be associated with autism like epilepsy and bowel disorders.   

One of the researchers, Dr. Fred Volkmar, a professor of child psychiatry, pediatrics and psychology at Yale University, was quoted in the New York Times last month saying that "It appears that the rates are unchanged over the past 20 years or so."  To him autism is not a critical health care issue affecting more and more our kids.

In the February 24th Washington Times article “Autism linked to gene, region of a chromosome,” Volkmar said, "We have known for years that autism is a strongly genetic disorder.” He explained that "autism rates have increased tenfold in the past decade, reflecting increased awareness, a broadening of the definition and better educational services."   

It seems the scientific world isn't concerned that more children will be diagnosed with autism this year than with AIDS, diabetes and pediatric cancer combined.  These new findings were years in the making and there is still is no end in sight in the quest now that we know it involves so many genes.

News stories about autistic kids give us a different image of autism. These reports clearly show that this isn’t something we have all the time in the world to theorize and ponder about. 

New York: In the Tonawanda News it was noted that cases of autism in the state "jumped from fewer than 2,000 in 1992 to 9,500 in 2003. It's especially a problem on Long Island where one in 85 children will develop the disorder."

New Jersey: The Cherry Hill Courier Post reported on the autism bills being proposed in the state legislature to deal with autism. Assemblyman Joseph Pennacchio was quoted saying, "Autism has reached epidemic levels. There is no doubt in my mind that environmental factors have had an effect on that increase." 

On March 12th, Bridgeton News in N.J. had an article by Jaime Marine which noted that the highest rate of autism in the US -- 1 in 94 children -- was in New Jersey. Marine said that "a grant from the Governor's Initiative on Autism will help the school district create a second elementary self-contained autism class at Silver Run School. There are presently six students in kindergarten and nine at the preschool level with autism.”

Michigan: Psychologist Tom Brown, executive director of the Autism Support Center, an affiliate of the Macomb/Oakland Regional Center called autism "a medical crisis" in the Oakland Press.

West Virginia: Channel WOWK featured Allen Gorrell, principal at Nutter Fort Elementary saying, "There are not enough personnel in the county and in the state of West Virginia who are presently certified to teach autistic children,"

Florida: On March 7th, the St. Petersburg Times reported on a new school for autistic students in Pasco County. "The new charter school plans to debut with 200 seats in the six counties, eventually rising to 600 seats."

Texas: News reports from all over the state featured the proposal in the state legislature to allow autistic students to be able to use vouchers to transfer from the public schools to private school for special help. The Sherman Denison Herald Democrat reported that "an estimated 17,000 school-aged children have autism. Experts say the number has surged 600 percent in the last 20 years, reaching epidemic proportions."

Wisconsin: On February 25th, Terry Anderson, reporter at the Green Bay Press Gazette wrote, "Fourteen years ago, Wisconsin school districts identified 200 children in their ranks with autism. Today, there are at least 200 students in the Green Bay School District alone. In December 2005 (the most recent numbers available), DPI identified 5,085 students in the state with an autism spectrum disorder." 

Nissan Bar-Lev, special education director for WI CESA 7 said that looking "at the figures within the Department of Public Instruction and you'll conclude it's nothing short of an epidemic." The article noted there are "waiting lists to receive a Medicaid waiver, to qualify for reimbursement for medical assistance" and that WI governor, Jim Doyle said, "We aren't coming close to meeting the needs."

Massachusetts: The Metro West Daily News described how autism is affecting schools big time.  "The schools in one district are facing $364,000 more in special education costs, which include transportation, contracted services, new staff and tuition." 

One official said, "When I came to the district (in 1993), we had two students who were diagnosed with autism.  We now have 36. It's an extraordinary increase, and it's not just us."

California: The March 10th, North County Times ran the story “Autism on the rise locally, nationally.” Stunning increases were noted. "Southwest County school district officials have watched their populations of autistic students explode over the last four years. In the Temecula and Lake Elsinore school districts, their populations have jumped by about 300 percent. In the Murrieta school district, the autistic enrollment has grown by 650 percent, an increase of about 100 students."

Parents of one autistic student raised $40,000 last year "to help pay for learning tools teachers desperately need for autistic students but the Temecula school district can't readily afford."

Amazingly, we are to believe that all this because of "increased awareness" and a "broadened definition of autism."

All the experts searching diligently for those elusive genetic mutations seem blissfully unaware of the impact of autism on our schools and the impending disaster as these autistic children become autistic adults. Anyone looking at the graphs and charts based on Department of Education statistics showing the soaring autism numbers, has got to be worried. The dramatic increase in children in our schools disabled with autism is a scary preview of the impact they will have on the Social Security System in the next five to ten years.

Michael Ganz's Harvard study last year conservatively put the lifetime care cost for one autistic individual at $3.2 million dollars.  

Robert Krakow from Lifespire gives us estimates that put the lifespan cost at $10.125 million per autistic individual. This figure is based on an annual rate for each person of $225,000 with a life expectancy of 66 years.  It doesn't include the cost for the period up to age 21.

No one seems to be looking ahead to the future. We see scientists with years of research ahead. No one calls autism an epidemic. No one talks about stopping it from affecting more children.  

Let's hope that as the researchers sort through the genomes possibly involved in autism, their continuing research might also include a study of what genetic mutations occur when these genes are exposed to the levels of mercury equivalent to what our children received in their vaccinations.

Anne McElroy Dachel of Chippewa Falls, WI is a member of A-CHAMP (Advocates for Children's Health Affected by Mercury Poisoning) and the National Autism Association (NAA). She can be reached at: