Wright Is Right: Autism Has Become An Epidemic

Bob Wright co-founder of Autism Speaks testified before ta US National Congress  committee and made a number of important points including what is obvious to those who are actually paying attention to autism realities: autism has become an epidemic.  The usual suspects, those autism researchers who study whatever suits them, whatever narrow issue they find interesting or can build a career around, remain in denial. The deniers have no solid evidence to support their position.  It is really quite simple. They are wrong.  Autism is an epidemic. Wright is right.

Parents and other family members with 24/7 responsibility for caring for the autistic children we love can not ignore autism realities. Many of us can see the autism epidemic and we can not redefine our children's challenges out of existence by amending the DSM every few years. (Yesterday the APA voted to accept the new DSM5 including the New Autism Spectrum Disorder that will expel many with autism and intellectual disability and complete the reshaping of Asperger's as Autism.) We can not pretend autism is not a disorder or that gee whiz autism always existed.  We are not comforted by the idle speculation that all of history's  scientific, literary and artistic geniuses are all examples of "the autism advantage".

We must deal with reality, autism reality, in all its manifestations.  Many  parents, grandparents and other family members caring for autistic loved ones can not and do not ignore the reality that autism numbers are increasing. When Bob Wright addressed a US Congressional committee and spoke about the autism epidemic he spoke a truth that is obvious to many parents, grandparents and family members: there is an autism epidemic. Autism researchers and others who do not see the autism epidemic have simply chosen not to see it. Those who deny the existence of the autism epidemic look only at one of the elephant's toes. They do not step back and see the whole elephant.

Those who deny the autism epidemic, who blame their own periodic diagnostic definition changes, diagnostic substitution, increased awareness and those imaginary autism services that make autism a must have diagnosis see only what they want to see.  They want to see a genetic explanation for autism and they refuse to consider environmental factors.  "It's gotta be genetic" and that means there is no real increase because genes don't change that quickly.

The failed premise on which the deniers excuse their repeated failure to find a gene or genes that truly cause autism symptoms or disorders is that autism is purely genetic and that the air, water, food, we consume, the toxic chemicals used in toys, clothing, jewelry, furniture and injected into pregnant women can not really have any effect on the neurological development of our children.  That reckless assumption is the kool-aid of those who deny the existence of the autism epidemic. Many parents refuse to drink that kool-aid.

The IACC pie chart above shows that genetic autism risk research receives by far the greatest share of autism risk research funding.  "Pure" genetic research receives 63% compared to 5% for environmental risk research funding.  "Epigenetic" autism risk research receives an additional 7% of autism risk research funding for a total of 70% of genetic research compared to 5% for environmental.  Gene-environment interaction research accounts for 25% of autism risk funding.   I am a humble small town lawyer and father of a severely autistic, cognitively challenged 16+ year old son.  I can not possibly be as smart as all those clever autism researchers who manipulate statistical data and call it autism research but those numbers tell me that genetic autism risk research outweighs environmental autism risk research 12 to 1.  The autism research community has produced no substantial results in its genetic autism research despite owning the autism research funding bread basket in recent decades.  No wonder many autism researchers dig in their heels and say there is no autism epidemic. An epidemic requires environmental factors and would push funding toward a more equal balance with more dollars for autism risk factor research funding and fewer dollars for their genetic studies. The negative impact that redistribution could have on their careers is obvious.

A prime example of the career influence and "its gotta be genetic" mandate on the autism research community is the example of Dr. Peter Szatmari's reaction to the CATS, California Autism Twins Study.  Dr. Joachim Hallmayer,  who was involved with the CATS study, indicated that CATS demonstrated the importance of an environmental role in autism causation with both genetic and environmental research playing significant roles.  Prominent genetic autism risk researcher Dr. Peter Szatmari, offered a different interpretation, one that I found bizarre in light of the previously existing autism emphasis on genetics alone as explaining autism:

Dr. Joachim Hallmayer:

"“I think we now understand that both genetic and environmental factors have to be taken seriously,” said Dr. Joachim Hallmayer, an associate professor of psychiatry and behavioral sciences at Stanford and the lead author of the new study, which is to be published in the November issue of Archives of General Psychiatry. ....... surprisingly, mathematical modeling suggested that only 38 percent of the cases could be attributed to genetic factors, compared with the 90 percent suggested by previous studies .... And more surprising still, shared environmental factors appeared to be at work in 58 percent of the cases" 

Dr. Peter Szatmari:

“This is a very significant study because it confirms that genetic factors are involved in the cause of the disorder but it shifts the focus to the possibility that environmental factors could also be really important."

Dr. Szatmari has it backwards. His quote indicates a desperate effort to continue the funding emphasis on genetic autism research. He clearly reverses the importance of the CATS study by indicating that it confirms a genetic role in autism causation which, to my knowledge, is not in dispute.  In reality the CATS study,  as indicated by its lead author, Dr. Hallmayer, indicates that study points out the importance of environmental factors within the context of a shared gene environment interaction model of autism causation.

The significance of the autism research genetic obsession is substantial.  As long as the cult like belief that autism is 100% genetic persists it is easy to deny the existence of the autism epidemic.  When it is acknowledge that environmental factors are involved simple denial is no longer an option.

Dr. Jon Poling is a neurologist and father of Hannah Poling, an autistic child. He   and his wife, a registered nurse and lawyer, could not be written off as  irrational, hysterical parents when they sought compensation for his child's autism symptoms under the legislated process in the US.   His comments in a March 13, 2009 opinion column of the Atlanta Journal Constitution must be heeded by government decision makers and autism researchers in the US and Canada:

"Fortunately, the ‘better diagnosis’ myth has been soundly debunked. ... only a smaller percentage of this staggering rise can be explained by means other than a true increase.

Because purely genetic diseases do not rise precipitously, the corollary to a true autism increase is clear — genes only load the gun and it is the environment that pulls the trigger. Autism is best redefined as an environmental disease with genetic susceptibilities."

We should be investing our research dollars into discovering environmental factors that we can change, not more poorly targeted genetic studies that offer no hope of early intervention. Pesticides, mercury, aluminum, several drugs, dietary factors, infectious agents and yes — vaccines — are all in the research agenda."

We are long overdue in developing a A Research Strategy to Discover the Environmental Causes of Autism and Neurodevelopmental Disabilities as advocated by Philip J. Landrigan, Luca Lambertini and Linda S. Birnbaum in April 2012.   Such a strategy will require a redressing of the imbalance in genetic and environmental autism risk funding as advocated by Dr. Irva Hertz-Picciotto.  

The denial of an autism epidemic arises directly from, and is supported by, the   "it's gotta be genetic" belief that has dominated autism research and autism risk research funding.  

We are living in an autism epidemic and it is time to find and address the causes of that epidemic.  The time is now! 

Autism and Conor's Grand Mal Seizure: What Lies Ahead?

I know very little about seizures except that they are associated generally with epilepsy, that they are common in people with autism disorders and that they can be absolutely terrifying to a parent, even one whose personal conceits mislead him into thinking he is immune to fear. When I heard strange noises from my younger, severely autistic, and intellectually challenged son Conor and found him convulsing violently on our living room floor  I thought for an instant that we might lose him. At this time I know very little about seizures.  I know very little except how dangerous  seizures can be.

I can say that I had suspected seizure activity in Conor on previous occasions and reported them to his pediatrician over a year ago. The previous incidents involved his eyes rolling back in his head, his eye lids closing with an unusually forceful appearance, or his face grimacing and head tilting up and in another direction. But there was no falling or convulsing and no further examinations were conducted.  The Grand Mal seizure he suffered two weeks ago was on a different scale and prompted a call to 911 and the terrific emergency response team and ambulance that took Conor and I to the emergency ward of our local hospital, the DECH.  Thanks to the emergency response team the hospital staff were waiting and prepared with readings having been called in en route. An EEG is now scheduled and I will try to help Conor deal with the stresses of that procedure sufficiently to enable adequate readings to be taken.  Beyond these few facts I know very little about seizures or epilepsy which apparently is the most likely explanation at this time although no diagnosis is confirmed prior to further testing. All I know at this time is that seizures can be very dangerous, even deadly, and my responsibilities to my son now require that I learn much more, as a parent always must, about the very serious challenges they present to my son.

I have much reading to do.  I do have some very good friends in New Brunswick's autism advocacy community who have children with autism who have suffered seizures and  have given me some helpful information. I have for some time admired the courage of Kim Oakley who has posted YouTube videos of her son who suffers from autism and epilepsy and authors Autism, Epilepsy and Self-Injurious Behavior a blog  featured on the side bar of this site.  My admiration for her and her family and the challenges they have faced is increased by Conor's recent Grand Mal seizure.

Since my son's seizure I have found in the New York Times on line an informative and awareness raising article Unmasking Silent Killer in Epilepsy by Aliyah Baruchin. The article reports very directly, with no sugar coating, about Sudep, sudden unexplained death in epilepsy. It includes the story of Steve Wulchin who found his 19 year old son Eric lying on the floor after suffering from an epileptic seizure. He had died at about 2:30 in the morning. We were more fortunate, Conor's seizure occurred around 11 am in the morning and I heard him making unusual noises before finding him in violent convulsion on our living room floor. Had it happened at 2:30 am or some other time when no one was awake the ending could have been very different. The Baruchin article goes on to report: 

"The cause of Eric’s death was ultimately listed as Sudep, for sudden unexplained death in epilepsy. The syndrome accounts for up to 18 percent of all deaths in people with epilepsy, by most estimates; those with poorly controlled seizures have an almost 1 in 10 chance of dying over the course of a decade. Yet many patients and their families never hear about Sudep until someone dies. Mr. Wulchin said none of Eric’s four neurologists ever mentioned it to the family. “The message we got back was, ‘There’s no reason why he can’t live a long and normal life,’ ” he said. “It never occurred to me that this was a possibility. 

Now, physicians, researchers, advocates and relatives like Mr. Wulchin, a technology executive, are trying to raise awareness about Sudep. One of their goals is to establish registries of deaths and autopsy results, building databases to support future research. Sudep most often affects young adults, typically ages 20 to 40, with a history of the convulsive seizures once known as “grand mal.” Others at risk include those with difficult-to-control seizures, or seizures at night; people who take a large number of anti-epileptic medications or take them irregularly; African-Americans with epilepsy; and people with epilepsy whose I.Q. is under 70. Many victims die in their sleep, and their bodies are often found face down. That prone position suggests that they may have had a neural, respiratory or cardiac crisis — or some combination — that left them momentarily unable, like SIDS babies, to rescue themselves from suffocating. “After a seizure, the person is in a dramatically reduced state of awareness, and even their reflexes are reduced,” said Dr. Orrin Devinsky, director of the Comprehensive Epilepsy Center at New York University. For most people, he went on, “once your airway’s obstructed, you roll over. For people with epilepsy, they don’t.” 

Epilepsy, wrapped for centuries in secrecy and stigma, has gained wide attention in recent years. Not so with Sudep; even neurologists who specialize in epilepsy sometimes feel that mentioning it to patients who aren’t at high risk may impose too much of a burden. “Whenever I speak to a group of colleagues about telling all their patients, it’s controversial,” said Dr. Elizabeth Donner, a neurologist at the Hospital for Sick Children in Toronto and co-founder of the advocacy group Sudep Aware. “People worry about having a negative impact on the quality of life of people with epilepsy if we tell them about this. Mr. Wulchin and other advocates say this attitude needs to change, even in the absence of a concrete way to predict or prevent a sudden death. ”

Since I commented about Conor's seizure on this blog I have also received a  news release The Damaging Impact Of Seizures On Individuals With Autism:

Newark Valley, NY, November 30, 2012 – Many of us know someone whose family is dealing with autism; once considered rare, now 1 in 88 children in this country are diagnosed with an Autism Spectrum Disorder (ASD). 

Silently Seizing: Common, Unrecognized and Frequently Missed Seizures and Their Potentially Damaging Impact on Individuals With Autism Spectrum Disorders (AAPC Publishing) by Caren Haines, RN, and valuable input by Nancy Minshew, MD, deals with the overwhelming challenge for those living with silent seizures. Many are confronted by anger and falsely accused of disorderly conduct, indecent exposure and drug abuse; while some are even unfairly arrested because the bizarre actions exhibited during a seizure have led to frequent misdiagnosis, medical mismanagement and, in the worst case, commitment to a mental institution.  

Because they are difficult to diagnose, or due to a lack of awareness and understanding, as many as 30% of all children and young adults with ASD may have undiagnosed seizure disorders. Silently Seizing is a breakthrough book that explores what most doctors won't tell you – that often the symptoms of autism are caused by seizures, undetectable with standard diagnostic tools. 

At age 2, the author’s son was diagnosed with autism. By the time he was 12, his diagnosis didn't account for his uncontrollable aggression, the acrid smells that lingered in his mind and the odd voices that screamed at him from inside his head. By the time he was 18, his out-of-control behavior mirrored a mood disorder with psychotic features. Silently Seizing begins with a close-up look at this family's journey and examines a disorder that cannot always be identified in a clinical setting. 

 As a registered nurse, Caren Haines relied on her training to help her decipher her now 24-year-old autistic son’s perplexing behaviors. Based on knowledge gained from years of intensive research and information from top researchers in the field of autism, she is helping families become free from the debilitating symptoms of silent seizures and psychosis. 

Haines’ says, “Intersecting at two medical subspecialties, neurology and psychiatry, the child who has autism and partial seizures is at a serious disadvantage. By inadvertently allowing children's brains to “silently seize,” we are robbing them of their ability to function normally. Untreated, these seizures can predispose children to develop behavioral disturbances, such as self-injury, aggression and psychosis, which are seen in many cases of autism. If they are treated early with anti-seizure medications, many children show amazing gains in expressive language and comprehension. More importantly, many children lose their diagnosis of autism.” 

Backed by up-to-the-minute research, Silently Seizing: Common, Unrecognized and Frequently Missed Seizures and Their Potentially Damaging Impact on Individuals With Autism Spectrum Disorders is a must-read book that includes sections describing autism, the seizure-autism connection, tips for diagnosing and treating seizures, as well as how to better understand children's behavior. It acts as a virtual guide to help parents navigate through this complex and mystifying disease. For more information, please visit: www.bit.ly/Rb2WBW."

I received the above news release via email with out receiving a copy of the book which I have not read. I do intend to acquire a copy of the book. Not for comment on this blog at a later date, although that may happen, but as just one element in an effort to understand a dangerous reality in my son's life.

Vaccine Autism Shocker: Study Reports Strong Evidence of Autism Connection to Aluminum and Acetaminophen Exposure

It is quite possible that a paper claiming that empirical data confirm autism symptoms are related to Aluminum and Acetaminophen exposure, and possibly to the MMR vaccine,  could put the research standing and careers of the authors in jeopardy.  The paper in the journal Entropy is tantamount to treason in some health circles and could invite serious retribution from those who have elevated vaccines to a level beyond criticism.  

The researchers, to my great surprise, did not try to sugar coat their findings in  Empirical Data Confirm Autism Symptoms Related toAluminum and Acetaminophen Exposure, published in Entropy, November 7, 2012: 

Abstract: Autism is a condition characterized by impaired cognitive and social skills, associated with compromised immune function. The incidence is alarmingly on the rise, and environmental factors are increasingly suspected to play a role. This paper investigates word frequency patterns in the U.S. CDC Vaccine Adverse Events Reporting System (VAERS) database. Our results provide strong evidence supporting a link between autism and the aluminum in vaccines. A literature review showing toxicity of aluminum in human physiology offers further support. Mentions of autism in VAERS increased steadily at the end of the last century, during a period when mercury was being phased out, while aluminum adjuvant burden was being increased. Using standard log-likelihood ratio techniques, we identify several signs and symptoms that are significantly more prevalent in vaccine reports after 2000, including cellulitis, seizure, depression, fatigue, pain and death, which are also significantly associated with aluminum-containing vaccines. We propose that children with the autism diagnosis are especially vulnerable to toxic metals such as aluminum and mercury due to insufficient serum sulfate and glutathione. A strong correlation between autism and the MMR (Measles, Mumps, Rubella) vaccine is also observed, which may be partially explained via an increased sensitivity to acetaminophen administered to control fever.

.......................................................................................................................

6. Conclusion 

In this paper, we have presented some analyses of the VAERS database which strongly suggest that the aluminum in vaccines is toxic to vulnerable children. While we have not shown that aluminum is directly causative in autism, the compelling evidence available from the literature on the toxicity of aluminum, combined with the evidence we present for severe adverse reactions occurring much more frequently following administration of aluminum-containing vaccines as compared to non-aluminumcontaining vaccines, suggests that neuronal damage due to aluminum penetration into the nervous system may be a significant factor in autism. The fact that mentions of autism rose steadily concomitant with significant increases in the aluminum burden in vaccines, is highly suggestive. However, it is possible that other factors, such as more aggressive reporting or simultaneous increases in other environmental toxins, e.g., herbicides or pesticides, or aluminum in other products such as antiperspirants and antacids, may have contributed to these observed increases. We also observed a strong correlation between the MMR vaccine and autism, which we suggest could be explained by the effects of acetaminophen. 

We have proposed elsewhere that an impairment in cholesterol sulfate synthesis in the skin and in the vasculature may be causative in autism, and we argue here that vaccines can act synergistically with this impairment in the vulnerable child. We propose that simple corrective measures such as increased sunlight exposure and decreased use of sunscreen may help protect a child from a severe reaction to aluminum-containing vaccines, but we also feel that the vaccine industry should find a way to reduce or even eliminate the aluminum content in vaccines. 

As might be expected Dr. David H. Gorski, writing under the handle Orac has already spewed some venom on  one of the authors of the study in his blog commentary of November 20, 2012, Stephanie Seneff: Following the Geiers dumpster-diving in the VAERS database.  I am not sure why Gorski engages in the childish, self inflating style that he does. There is no question he has a loyal following but I doubt very much that he is persuading parents or others with vaccine concerns to abandon those concerns and vaccinate themselves and their children.   I suspect his venomous hostility is actually counter productive.

I have received the usual recommended vaccines and so have both of my sons. I have never suspected vaccines as contributing factors to my younger son's severe autistic disorder and profound developmental delays although I have not closed my mind on the possibility either should further research demonstrate such a connection.  I believe that more research is needed to persuade those with concerns and, if connections are shown, to recommend study and changes to eliminate those possible connections.

What I don't recommend is the strategy of attacking vaccine safety skeptics and expecting the attacks to change their minds.  That approach simply has not worked. A much better scientist than David Gorski, a gentleman named Albert Einstein, characterized "doing the same thing over and over again and expecting different results" as a form of insanity.   I don't expect Orac to change his approach. Nor do I expect the results of his attacks to yield different results.  What would be helpful is to have the Seneff study findings properly rebutted or, if confirmed, the problems they point to addressed.

ABC News Brian Ross Reports On Harsh Restraints Of Children With Special Needs Thursday November 29

As set out in the following ABC News Release:

November 29, 2012

BRIAN ROSS INVESTIGATES:

Moms Fight Back Against Harsh Methods to Restrain Students with Special Needs

Advocates say Thousands Injured and Many Killed after Poorly Trained Educators Using restraint Techniques Unsafely

Report will Air on “World News with Diane Sawyer” and “Nightline”  on Thursday, November 29

Thousands of American school children who suffer with autism or have other behavioral issues have reportedly been injured and dozens have died after poorly trained teachers and school aides tried to subdue them, a major ABC News investigation has found.  It is a troubling trend in the use of unduly harsh methods to restrain students who misbehave. The report from ABC News Chief Investigative Correspondent Brian Ross airs Thursday, November 29 on “World News with Diane Sawyer” and “Nightline.”  In addition, it will be featured on ABCNews.com, Yahoo!, ABC News Radio and ABC’s local affiliates.

Ross interviewed a number of people at the center of this shocking investigation, including victims’ mothers, children with compelling and chilling firsthand accounts, Congressman George Miller who is calling for national legislation restricting how and when restraints can be used on school children, and the Head of the School Superintendents Association, who opposes the legislation and says schools need the ability to use a variety of techniques to restrain children who poses a risk of harm to themselves or others.

“World News with Diane Sawyer” airs at 6:30 p.m., ET on the ABC Television Network.  Michael Corn is the executive producer of the broadcast. Follow Diane Sawyer and the “World News” team online: @DianeSawyer; @ABCWorldNews; facebook.com/DianeSawyer; facebook.com/WorldNews.

ABC News’ “Nightline” is anchored by Cynthia McFadden, Terry Moran and Bill Weir. Juju Chang is a correspondent. Jeanmarie Condon is the Executive Producer. The program, number one in late night, airs weeknights from 11:35 p.m., ET to 12:00 a.m. on the ABC Television Network.  

ABC News Media Relations: David Ford / david.ford@abc.com / 212.456.7243

Conor, Autism Disorders and Traffic-Related Air Pollution

Photo by Harold L Doherty, Toronto, CN Tower, 2008

Conor Doherty, 1 Day Old, February 20, 1996 

Joseph Brant Memorial Hospital, Burlington

Photo by Dad

A new study Traffic-Related Air Pollution, Particulate Matter, and Autism published online in the JAMA Archives of General Psychiatry examines the relationship between traffic-related air pollution, air quality, and autism.  The study researchers found that Children with autism were more likely to live at residences that had the highest quartile of exposure to traffic-related air pollution, during gestation and during the first year after birth compared with control children.  In the study abstracts the researchers concluded:

"Exposure to traffic-related air pollution, nitrogen dioxide, PM_2.5, and PM₁₀ during pregnancy and during the first year of life was associated with autism. Further epidemiological and toxicological examinations of likely biological pathways will help determine whether these associations are causal."

Autism Speaks has issued a news release which comments on the study report: 

"Despite an increase in research and funding, “we have not yet fully described the causes of ASD or developed effective medical treatments for it,” Dr. Dawson writes. “[This issue’s] articles point to an urgent need for more autism funding. We especially need more research on prenatal and early postnatal brain development in autism, with a focus on how genes and environmental risk factors combine to increase risk for ASD.” .....  Research presented in this issue reports a three-fold increase in autism risk associated with exposure to high levels of traffic-related air pollution during pregnancy and the first year of life. The study’s lead author, Heather Volk, Ph.D., M.P.H., is the recipient of an Autism Speaks research grant to study autism risk and gene-environment interactions involving air pollution." [Bold, underlining added -HLD]

The possible association between autism and traffic related air pollution is of specific interest to me.  We were living in Burlington, Ontario when my wife Heather was pregnant with our now 16+ son Conor who has severe Autistic Disorder.  We moved back to Fredericton, New Brunswick 4 months after Conor's first birthday.  Burlington is located between Hamilton and Toronto, Ontario off the Queen Elizabeth Highway, the QEW, which runs between those two cities. It is  one of the busiest automobile traffic areas in Canada. 

Like the study's careful authors I do not jump to any definite conclusion about the the traffic related air condition as a cause of Conor's autism.  I do strongly suspect the combination of environmental pollutants in that area MAY have been factors in causing or triggering autism in Conor.  In addition to heavy auto traffic Burlington is also adjacent to Hamilton with steel mills that emit considerable air pollution as was described in  a study I commented on in 2008 in Autism, Environment and Genetic Mutations: Hamilton Steel Mills and Conor's Autism Disorder. including references to a study Germ-line mutations, DNA damage, and global hypermethylation in mice exposed to particulate air pollution in an urban/industrial location and a Toronto Star article which reported on the story:

"Mice breathing the air downwind from Hamilton's two big steel mills were found to have significantly higher mutation rates in their sperm, a new Health Canada-led study says. While there's no evidence that residents of the area are experiencing the same genetic changes, the project's lead author says the findings do raise that question. "We need to do that experiment and find out," said Carole Yauk, a research scientist with Health Canada. A future study will look at "DNA damage in the sperm of people living in those areas."

...

Dr. Rod McInnes, director of genetics at Canadian Institutes of Health Research, said the mice could be "the canary in the coal mine" signalling the genetic risks to humans of breathing toxic air. ... While genetic changes in sperm would not affect a male directly, they'd get passed on to the offspring that receive his DNA. The story reports on a study indicating that the mice living under the Burlington skyway downwind from 2 Hamilton steel mills and breathing the air from those mills for a period as short as 10 weeks were found to have significant sperm mutations."

I was interested enough in the Hamilton steel mill's air pollution study that I contacted Dr. Yauk referenced in the Toronto Star article quoted above. Dr. Yauk was kind enough to reply to my email in some detail:

"Dear Mr. Doherty,

I'm very sorry to hear of your son's autism. Certainly many of the chemicals emitted from the steel industry into the air are highly mutagenic. There are numerous sources of mutagenic chemicals in that evironment (emissions from the cars/trucks on the QEW will be high as well), and we have definite plans to follow-up our earlier results. At the moment, we are applying for funding to continue the research. There will be 2 arms of work: one on mice to try to look at a full panel of potential health effects and causative agents, and the other will begin to look at DNA damage and changes in sperm from men living in the area. One of the things that I would like to investigate is whether there is evidence of large rearrangements and gains and losses in DNA regions in mice breathing air in that environment. These types of mutation have been shown to be associated with autism in an earlier study from another group (and various

other types of diseases). However, these experiments are extremely expensive, and we have not been successful in obtaining funding as of yet (it is very competitive these days to get grants). Hopefully we'll have some success soon - I am optimistic as we have an outstanding panel of investigators on the project from McMaster University, McGill, and Health Canada.

Thank you for your interest. Please feel free to email me again in the  future.

Best regards,

Carole

Carole Yauk, Ph.D.

Research Scientist, Health Canada

Adjunct Professor, Carleton University

Associate Editor, Environmental and Molecular Mutagenesis.

Environmental Health Centre"

The gene environment model of autism causation has gained ground in recent years. Autism Speaks deserves some credit for this advance with its more balanced funding of genetic and environmental studies.  

Scientists like Dr. Carole Yauk, Dr. Irva Hertz-Picciotto, Dr. Heather Volk, Dr. Philip J. Landrigan and Dr. Linda Birnbaum are the people advancing our knowledge of possible causes of autism disorders.  This father of an autistic son  salutes them and wishes them well in their never ending efforts to enhance our understanding of the environmental factors contributing to the very real autism crisis confronting our children. 

One Grand Mal Seizure Later Conor Is Back

Conor was happy and full of life on our trail walk today. 

At times his feet didn't even touch the ground.

The Grand Mal seizure Conor experienced Saturday morning took him down pretty hard (and scared the bejeebers out of his Dad).  He did recover well though and today, under a beautiful blue sky in Fredericton,  Conor showed off his energy and enthusiasm as he, Mom and Dad (the invisible guy behind the camera) enjoyed a trail walk adventure to the Superstore.  Yes, we are taking it very seriously with medical examinations to continue but today we enjoyed Fredericton in the fall and we very much enjoyed our time with Conor. 

No Autism. Today, Conor's Grand Mal Seizure Scared The Hell Out Of Me

The Joy of Conor

Every day with my buddy Conor is a joy because of who he is. Every day with Conor requires extra concern and attention to his well being because of the autism disorder that restricts his life and presents serious challenges to his ability to participate in it like others of his age.  Today though autism was the least of Conor's, or my, worries.  Today, shortly before 11 am I was upstairs and heard Conor downstairs making various noises ... as he often does.  But there was something different about the sounds I heard.  When Conor makes noises they may sound unusual at times but he is clearly making them, he is in control.  What I heard today was different.  Conor was making noises but they were not his usual kinds of utterances, he was not in control.  I went downstairs to see what was happening. 

When I saw Conor he was lying on his side on the living room floor.  His body was shaking violently back and forth. He did not appear conscious and he was not responsive to any attempt to elicit a response. Thick green and yellow fluid  had oozed out the side of his mouth. I tried to lift him and it was like trying to lift a pile of 190-195 pound bricks, there was no response. For a brief instant my mind flashed with the possibility that this might not end well.  I called 911 and the terrific  Emergency Measures Response team were soon at our door. With them  to offer direction, and with Conor's big brother providing help, I sat Conor up and then changed him. We were soon on the way to the Dr. Everett Chalmers Hospital where the wonderful staff of the DECH hospital took great care of our Conor with me and Mom beside him. Right now Conor is sleeping on one of our living room couches, with lots of blankets and comfy pillows. Mom is spending the night on the other couch. 

Autism is not responsible for today's emergency. We don't know for sure if epilepsy or some other condition was involved. What we do know beyond any doubt is that Conor suffered a grand mal seizure as defined by the Mayo Clinic:

Grand mal seizure 

 Definition By Mayo Clinic staff

A grand mal seizure — also known as a tonic-clonic seizure — features a loss of consciousness and violent muscle contractions. It's the type of seizure most people picture when they think about seizures in general. Grand mal seizure is caused by abnormal electrical activity throughout the brain. In some cases, this type of seizure is triggered by other health problems, such as extremely low blood sugar or a stroke. However, most of the time grand mal seizure is caused by epilepsy. Many people who have a grand mal seizure will never have another one. However, some people need daily anti-seizure medications to control grand mal seizure.

Hopefully the connections between various disorders ... or groups of symptoms ... known as autism, intellectual disability and epilepsy .... will be studied thoroughly and more time will not be wasted by academics spending years trying to find the perfect, stream lined definitions of disorders which are heterogenous, varied, complex and dangerous to those who suffer from them.  

For today I am thankful that my Conor is sleeping safe and sound in our living room.  Today I say thank you to the wonderful emergency measures response personnel and the staff of the Dr. Everett Chalmer Hospital emergency trauma ward.  Thank you very much.

Autism Is An Epidemic: Time To Stop Pretending Otherwise

Autism Speaks, commenting on and citing an article  from the Boston Globe,  reports that American Academy of Pediatrics President Elect James Perrin, M.D., F.A.A.P., has called autism an epidemic:

"James Perrin, M.D., F.A.A.P., president-elect of the American Academy of Pediatrics (AAP), called autism and other developmental disorders one of the major epidemics facing U.S. children. Dr. Perrin, a professor of pediatrics at Harvard Medical School, directs the Clinical Coordinating Center of Autism Speaks Autism Treatment Network (ATN). 

He also leads the Autism Intervention Research Network on Physical Health (AIR-P), a federally funded program built on the ATN. “Childhood obesity and other chronic health conditions: The continuing growth in childhood asthma and the tremendous growth in mental health conditions and developmental conditions like autism. We’ve got three or four major epidemics really growing among children and adolescents in America,” Dr. Perrin told the Boston Globe in a special interview."

I applaud Dr. Perrin for having the common sense, the good conscience  and the courage to speak the obvious truth.  Since my son's autistic disorder diagnosis 14 years ago at age 2 the CDC estimated prevalence of autism has moved from 1 in 250 to 1 in 88.  The 1994 DSM changes/increased awareness excuses which undoubtedly explain PART of the increases are trotted out with each change in the estimates as being FULLY  explanatory of the increases, without any convincing evidence in support of their statements of belief.   Many of us who raise, love and care for the children who are part of this epidemic are not drinking the kool-aid of the epidemic deniers.  Dr. Perrin will probably be vilified by "experts", including some with Neurodiversity ideological perspectives, who routinely mock those who dare state the obvious.  There is an autism epidemic.  Autism is rising. Thank you for speaking up Dr. Perrin.

Autism is an epidemic. It is time we all faced that reality. 

Lia Marinoiu On Life With Simon; Her Brother With Severe Autism Disorder

"Lia Marinoiu lives in the Toronto area. She is an extremely mature and articulate 19 year old sister of her untreated, severely autistic younger brother. She describes the impact on every facet of her life, currently and in the future, of growing up with an untreated sibling. She offers straight talk about the failures of our politicians and why Canadians not directly affected should care about this issue."

 Medicare for Autism Now: Medicare's Orphans, Episode 9, Lia Marinoiu

DSM5 Autism Exclusion of ID? Study Finds Single Gene Mutation Known To Cause Intellectual Disability Increases Risk of Autism Disorders

If you believe the DSM5 Neurodevelopmental committee responsible for expressly removing those with Intellectual Disability from the new, oversimplified Autism Spectrum Disorder when they claim that exclusion is based on current science you may want to reconsider. The DSM5 ASD excludes those with intellectual disability if the ID "accounts for" the mandatory social communication deficits of the DSM5 ASD. Even if a child has ALL the mandatory deficits in A,B, C and D it doesn't count, they are still excluded,  if the category A, social communication deficits can be "accounted for by general developmental delays".   This intentional culling of the autism spectrum disorder is purportedly based on current research a claim which I have always found to be extremely dubious with respect to the exclusion of intellectually disabled.  A new study further confirms the lack of scientific basis for the exclusion of those with severe ID from the new ASD.

The very high co-morbidity of autism and intellectual disability has been known for many years and the most recent CDC estimates had placed the figure at between 41 and 44% of all persons with pervasive developmental disorders (now commonly referred to as autism disorders). The figure for autistic disorder itself had been estimated as high as 70% of persons with Autistic Disorder and ID.  CDC autism expert Dr. Marshalyn Yeargin-Allsopp had referred to those with intellectual disability as representing the "vast majority" of those with  classic Autistic Disorder.

In Autism and intellectual disability: a study of prevalence on a sample of the Italian population, La Malfa G, Lassi S, Bertelli M, Salvini R, Placidi GF, the authors reported that their study confirmed the relationship between ID and autism and suggested a new approach in the study of ID in order to elaborate a new integrated model for people with ID and autism.  Despite the relationship between ID and autism the new DSM5 ASD will exclude those most severely affected by ID and autism.  The oversimplified DSM5 ASD has clearly rejected the call by La Malfa and colleagues for a new integrated approach preferring to artificially cleave ID off from ASD. 

Now a new study by the The Scripps Research Institute (TSRI) published in CELL, November 9, 2012,  appears to completely rip the foundation out from under the DSM5 attempt to disassociate intellectual disability and autism. It does so by showing how a single gene already known to cause intellectual disability also increases the risk of developing autism.  Given the known high co-morbidity and this reported genetic connection it is difficult to see how the DSM5 team can continue to justify its express, targeted exclusion of intellectually disabled from the new ASD but I am sure they will try.

e! Science News provides an overview of the study and interviews lead TSRI researcher Gavin Rumbaugh, PhD:

Scientists uncover secrets of how intellect and behavior emerge during childhood

Scientists from the Florida campus of The Scripps Research Institute (TSRI) have shown that a single protein plays an oversized role in intellectual and behavioral development. The scientists found that mutations in a single gene, which is known to cause intellectual disability and increase the risk of developing autism spectrum disorder, severely disrupts the organization of developing brain circuits during early childhood. This study helps explain how genetic mutations can cause profound cognitive and behavioral problems. The study was published in the Nov. 9, 2012, issue of the journal Cell.

 The genetic mutations that cause developmental disorders, such as intellectual disability and autism spectrum disorder, commonly affect synapses, the junctions between two nerve cells that are part of the brain's complex electro-chemical signaling system. A substantial percentage of children with severe intellectual and behavioral impairments are believed to harbor single mutations in critical neurodevelopmental genes. Until this study, however, it was unclear precisely how pathogenic genetic mutations and synapse function were related to the failure to develop normal intellect.

 "In this study, we did something no one else had done before," said Gavin Rumbaugh, a TSRI associate professor who led the new research. "Using an animal model, we looked at a mutation known to cause intellectual disability and showed for the first time a causative link between abnormal synapse maturation during brain development and life-long cognitive disruptions commonly seen in adults with a neurodevelopmental disorder."

The DSM5 committee members who have crafted this non evidence based new ASD will not be influenced by this recent study.  I saw Dr. Susan Swedo speak twice at Toronto IMFAR 2012.  She appeared more personally offended by criticism than interested in seriously addressing the merits of such criticism.  The several studies pointing out exclusions at both the HF and LF ends of the autism spectrum under the DSM5 regime are simply dismissed on the basis that they are using old data, that is information used in diagnosing persons currently assessed with autism under the DSM-IV.  The DSM5 team responded with a "mine's bigger than your's" study which was led by DSM5 team member Catherine Lord who had previously confessed to the NYT Amy Harmon that the objective of the new ASD was to target intellectually disabled for exclusion. Real objective stuff?

The DSM5 team has dug in its heels on the New ASD. It has been recoiling from criticism of possible exclusion of persons at the very high end of the autism spectrum.  As always both the media and autism researchers (with the exception of John Matson) simply disregard both the DSM5 ASD language expressly targeting for exclusion the intellectually disabled and Dr. Lord's express confession that the exclusion is intentional. The DSM5 team paid no apparent attention to the La Malfa study or to the authors' conclusion recommending a new approach in the study of ID in order to elaborate a new integrated model for people with ID. The odds of the DSM5 team taking the TSRI study any more seriously are slim to none. 

Autism 2013: Insel's Autisms or the Oversimplified DSM5 Autism Spectrum Disorder?

"If you’ve met one person with autism – you’ve met one person with autism." Stephen Shore 

The succinct and famous quote by Stephen Shore about the variation and complexity of autism disorders is cited often and just as often ignored. In fact it is ignored completely by the DSM5 which has merged high functioning autism and Asperger's into the streamlined New Autism Spectrum Disorder while ignoring the varied and complex realities, the heterogeneity of autism disorders.  As the parent of a severely autistic son with profound development delays, as an autism advocate who has visited adults with severe autism symptoms living in psychiatric facilities,  I do not agree with or support the vanilla flavored, stream lined DSM5 "autism". It does not reflect reality, it does not reflect the complex heterogeneity of autism disorders.

As a humble autism parent advocate  I am well aware that my opinions are worth   little to the DSM5 intelligentsia or to autism researchers generally. Most autism researchers tend to be courteous but dismissive, even condescending, in responding to my concerns about the express exclusion of the intellectually disabled under the DSM5 autism definition. That exclusion will make life easier for them as researchers but do nothing to help those who display all the symptoms of autism disorders but will be excluded because they are also intellectually disabled.

Autism researchers employing fMRI's that are widely featured and profiled in current autism research will be able to continue their misleading and unethical practices of excluding the most severely challenged autism participants while pretending their findings apply across the entire "autism spectrum".  Researchers will be able to continue their exclusionary practices because their needs are being accommodated by the DSM5 team which redefines autism to exclude those persons who are too difficult to study; who simply can not be counted on to sit still underneath a machine or to answer a questionnaire.

There are, however, voices that are more difficult to ignore; be they critics generally of the DSM5 or those who specifically critique the new autism definition.  Frances, Volkmar, Ritvo, Matson are but a very small selection of the credible autism and mental health researchers who have questioned the DSM5's  new and oversimplified Autism Spectrum Disorder.  In previous commentaries I have mentioned Lynn Waterhouse's writings on the complexity and variation of autism. Her vision of autism, as I understand it (while still working my way through her recent book on the subject) is inconsistent with the simplified autism of the DSM5.

Thomas R. Insel, M.D.. Director, National Institute of Mental Health (NIMH) and Chair of the IACC has not, to my knowledge, openly criticized the DSM5 generally or the DSM5 Autism Spectrum Disorder.  On his Director's Blog in the commentary Words Matter though he offers a picture of autism that reflects its complexity not the oversimplified, streamlined DSM5 version of autism:  

Words Matter

By Thomas Insel on October 02, 2012 

" ...  there are many barriers to progress, not all of them are scientific. Some involve policy, some involve poverty, and remarkably, some are simply linguistic. In mental health, we are stymied by our language. The most obvious linguistic problem can be found in our current diagnostic terms, what my predecessor Steve Hyman has called “fictive categories.” Terms like “depression” or “schizophrenia” or “autism” have achieved a reality that far outstrips their scientific value. Each refers to a cluster of symptoms, similar to “fever” or “headache.” But beyond symptoms that cluster together, there should be no presumption that these are singular disorders, each with a single cause and a common treatment. Recall that Bleuler, who first introduced the term schizophrenia over a century ago, referred to “the schizophrenias.” And with new genetic discoveries, scientists are beginning to describe “the autisms,” a group of neurodevelopmental disorders of diverse causes. 

.......  

"there is a more fundamental role for science, which is nothing less than the quest for understanding our world. The homeless man with schizophrenia, the non-verbal child with autism, and the soldier with PTSD need services and treatment, but also understanding—because the quest for understanding spawns compassion, intimacy, and even wonder."

Insel's autisms, a group of neurodevelopmental disorders with diverse causes, reflects the complex, varied, heterogeneity of autism symptoms and challenges. Lynn Waterhouse in  Rethinking Autism: Variation and Complexity has provided a similar perspective, an alternative to the DSM5's oversimplified and exclusionary Autism Spectrum Disorder.  

The APA will probably push through with the simple version of autism.  It will not advance the science involved in understanding autism.  It will not assist in finding causes, risk factors, treatment or cures for autism disorders.  It will not assist in  providing services that better fit the complex and varied challenges facing those who actually suffer from the daily limitations the autism disorders impose on their lives.

The DSM5 oversimplified  autism will probably be pushed upon us by Lord, Swedo and company. Hopefully though clinicians and researchers will not follow their lead and will instead consider the Waterhouse and Insel perspectives,  rethink the autism disorders, and embrace the varied and complex realities they present so that those who suffer from "the autisms" can be better helped to live happier,  more rewarding lives.

Autism Research Bias, Autism's Outcasts And The DSM5 Autism Do-Over: Shame on the APA

Four years ago, in Autism's Outcasts, I wrote about the exclusion from public consciousness,  and from autism research,  of those with autism and intellectual disabilities.  I am re-posting the research portion of Autism's Outcasts below. The comment overall talks about the media tendency, as demonstrated at that time by CBC and CNN, to exclude the harsher realities of severe autism, including those with associated with intellectual disability, from their generally feel good portrayals of autism disorders. At the time I was unaware that  the DSM5 autism "experts" would soon thereafter take steps to officially cast the intellectually disabled out of the Autism Spectrum Disorder by the express exclusionary language of the introductory paragraph of Mandatory Criterion A and that it would be based on the same autism research bias against the intellectually disabled that was known both to a humble autism dad like me and to DSM5 Neurodevelopmental Committe captain Dr. Catherine Lord who acknowledged that bias in  Social Policy Report, Autism Spectrum Disorders Diagnosis, Prevalence, and Services for Children and Families:

""However, research in ASD has tended to use overwhelmingly White, middle to upper middle class samples, and has often excluded children with multiple disabilities and/or severe to profound intellectual disabilities". [underlining added - HLD]

The express exclusion of the severe to profound intellectually disabled in the DSM5 Autism Spectrum Disorder is found in the introductory paragraph of Mandatory Criterion A:

"Autism Spectrum Disorder

Must meet criteria A, B, C, and D:

A.    Persistent deficits in social communication and social interaction across contexts, not accounted for by general developmental delays, and manifest by all 3 of the following:"

Even if a person exhibits all the persistent deficits of Mandatory Criterion A, B, C and D that person will not receive an autism diagnosis if the Criterion A deficits can be explained by "general developmental delays" or intellectual disability. Unlike those who will not receive an autism disorder diagnosis because they do not exhibit all the mandatory criteria for a DSM5 ASD diagnosis those with severe intellectual deficits who meet all of the criteria will still be excluded on the basis of the faulty, non evidence based logic that, even though an intellectually disabled may exhibit all the mandatory criteria for the new ASD, including the 3 deficits listed under category A, it doesn't matter because .... they are severely intellectually disabled.  

No explanation for the exclusion has been provided that makes any sense.  I have read the public comments by Dr. Catherine Lord, I have attended IMFAR and asked Dr. Susan Swedo directly about this exclusion and no sensible explanation for casting out the intellectually disabled from the autism spectrum has been provided.  

The DSM5 generally, and the DSM5 Autism Spectrum Disorder specifically, have been explained on the basis that the changes introduced reflect current research.  With respect to autism however that explanation is not satisfactory.  It is not satisfactory because those with severe autism deficits, particularly those with profound intellectual disability have been excluded, merely for reasons of convenience, from much autism research,  as set out in the 2008 Autism's Ouctasts comment that follows:

"Autism Research - Exclusion of Lower Functioning Autistic Subjects

In The face of Autism research as reflected in the IMFAR looking glass, Research in Autism Spectrum Disorders 2 (2008) 385–394, authors James M. Bebko, Jessica H. Schroeder, Jonathan A. Weiss, Kerry Wells, Kristen McFee and Gayle M. Goldstein reviewed the abstracts from a major autism conference (IMFAR) from 2004 to 2006. They found an increase in the proportion of studies with preschool or infant participants. There was also a decrease in studies using lower functioning samples, and an increase in studies using Mixed samples. The use of control groups generally decreased, and the use of cognitively impaired comparison groups remained low:

In terms of the functioning level of participants, research in autism has tended to focus in recent years on the higher functioning range of autism (HFA) or those with Asperger Syndrome (AS). According to a meta-analysis of cognitive and behavioral studies by Mottron (2004), over 75% of published studies on autism in 1999–2002 were comprised of participants with no identified cognitive delay. Such focus limits the generalizability of findings, as a large portion of individuals with autism and autism spectrum disorders have associated cognitive impairments,with estimates ranging from 40% to 70% of the population (Fombonne, 2005; LaMalfa, Lassi, Bertelli, Salvini & Placidi, 2004). Clearly a more balanced range of studies, with appropriate comparison groups is necessary.

....

Associated with this profile in the use of comparison groups in studies presented during this time period is an apparent decreasing representation of individuals with low or moderate intellectual impairments in the studies. One risk of such a trend is that our understanding of autism may become biased to the higher end of the functioning continuum. It is important that research continue to include individuals with cognitive impairments to ensure that our knowledge based on etiology, assessment, and intervention continues to expand across the entire range of expression of the disorder." [Bold highlighting added HLD]

The autism research bias in favor of the higher end of the functioning continuum and against the intellectually disabled at the lower end of the autism spectrum has been reflected in the recent research such as fMRI research which excludes severely autistic children from their studies because of the difficulties they present as subjects particularly the difficulty in ensuring compliance and limited motion during the use of the fMRI.  The researchers' solution? Just exclude and ignore the intellectually disabled, severely autistic from their studies and generalize to the entire spectrum while doing so.  The researchers are willing to make an unsubstantiated generalization to the entire spectrum because it is convenient to do so.  As a parent of a son with severe autism and profound developmental delays I do not have such a luxury when it comes time for anxiety inducing activities like haircuts, shaves and dental procedures.

The DSM5 authors claim that the New Autism Spectrum Disorder is based on current research.  It is no surprise then that the autism research bias against those with severe to profound intellectual disability is also reflected in the express exclusion of those who display all of the mandatory criteria of the New Autism Spectrum Disorder but also have the misfortune to be intellectually disabled.  Like the mainstream media, like the autism research community generally, the DSM Neurodevelopmental Committee authors of the New ASD  have, for no good reason, chosen to banish the severely intellectually disabled, Autism's Outcasts.

Shame on Dr. Catherine Lord and the DSM5 Neurodevelopmental Committee. I will think of their convenience based exclusion of the intellectually disabled from autism research and the DSM5 autism disorder as I help my son shave today. 

York University Study Joins Ranks Of Those Raising Questions About The DSM5 Autism Do-Over

In Autism diagnosis change questioned by York University  study Toronto Star Science & Technology Reporter Kate Allen interviews Dr. Adrienne Perry and York University undergraduate student, Azin Taheri, about a study designed by Taheri, with assistance from Dr. Perry, which had been intended to look at how the new DSM-5 criteria applied to kids already diagnosed with Autistic Disorder and PDD-NOS. No subjects with Asperger's Disorder were included in the study. 

"The York study looked at case histories of 131 children aged 2 to 12. All had either autism or pervasive developmental disorder-not otherwise specified (PDD-NOS), two of the current subcategories. None had Asperger’s.

Perry, who had originally diagnosed all the children, used her previous clinical notes and parent interviews to complete the DSM-5 checklist. Another experienced psychologist, who was not told about the hypothesis of the study, did the same for about a quarter of the cases with nearly identical results.

Eighty-one per cent of the children diagnosed with autism using the old criteria also qualified for the new diagnosis of Autism Spectrum Disorder. But only 17 per cent of the PDD-NOS kids did. Many more of the children with low IQs fit the new description than those with high IQs.

The findings were both surprising and troubling, especially since a cluster of studies have arrived at similar results. Perry and Taheri’s study was presented at a conference in May."

The study report, Exploring the Proposed DSM-5 Criteria in a Clinical Sample,        is available in full online as published in the Journal of Autism and Developmental Disorders Volume 42, Number 9 (2012), 1810-1817, DOI: 10.1007/s10803-012-1599-4.

It is difficult to accept that the DSM5 Autism Spectrum Disoder represents the current state of autism science when several studies, and numerous autism researchers and clinicians,  have raised serious questions about the redefinition of what is by most people's understanding a group of very complex disorders with no, as yet identified, biological markers, no understanding of what causes these disorders.  The wisdom of redoing the definition of what constitutes autism is not at all clear to this humble father of a wonderful son who suffers from severe autistic disorder and profound developmental delays. Not clear at all.