Autism Speaks Canada

This is a guest post by Dr. Raphael Sharon. He is currently the President-Elect of the Pediatric Section of the Alberta Medical Association and the Chair of the Society of General pediatricians of the Greater Edmonton Area. He is also a Clinical Associate Professor at the Stollery Children’s Hospital in Edmonton. He visits Bonnyville and Spruce Grove as a Consultant Specialist. Dr. Sharon has a private practice in the Westend of Edmonton. He has a general pediatric practice, with special interest in food allergies and obesity.

The title of this blog does not refer to business connections, or whether you have a good connection for your cellular phone or Internet.

We tend to take a lot of natural things for granted in life: our ability to see, hear, smell, and feel. Also, our ability to make a connection with a person we’ve met for the first time – to recognize if they are sad or to share in their happiness. 

For most children with autism spectrum disorder, making a connection with a person is one of the hardest things to do. And it is one of the characteristics that persists throughout the entire autism spectrum, from the most severe case to the higher functioning patients with Aspergers. And we still do not have a clear understanding of why this is the case.

There is a higher incidence of other diseases (so called “comorbidity”) if one has autism spectrum disorder – such as Attention Deficit Hyperactivity Disorder (ADHD), Oppositional Defiance Disorder (ODD) and Obsessive Compulsive Disorder (OCD), just to name a few. Again, there are some theories as to why this may be the case, but a definitive understanding still eludes us.

Unfortunately, for the longest time, some (including many insurance companies) considered autism as solely a mental health problem. This could not be further from the truth. Autism is a complex, multifactorial disorder that seems to have a combined origin in both genetics and environment.

When a young child with autism spectrum disorder has pain or is otherwise unwell, sometimes the only way she can express herself is by behaviour. Speech delay, both in expressing language as well as understanding words, can be one of the first signs of autism. Trying to figure out why behaviour has suddenly changed is one of the many challenges for both parents and healthcare workers. Potty-training a child with autism can be extremely challenging and sleep problems are also very common. These different medical aspects of autism spectrum disorder are still not fully understood.

The Autism Treatment Network (ATN) was established to help understand autism better through further research and also, perhaps most importantly, to provide comprehensive medical care to kids with autism spectrum disorder. ATN brings together hospitals and physicians with an interest in autism across North-America. Institutions in Toronto and Edmonton are the only two Canadian participants and I am fortunate to be part of the Edmonton ATN group which launched in June 2011.

As a General Pediatrician practicing in the community, I have a special interest in patients with autism spectrum disorder. I absolutely love working with all children, but I especially enjoy working with kids with autism. I have a 17 year old patient – we’ll call him Joe – who has severe autism and hardly any vocabulary. I have been following him for years, and he and I have developed an unspoken bond. He always gets chocolate after a doctor’s visit and is able to say “choco”. When he comes in for a checkup or when he is unwell, he lets me examine him while chanting “choco, choco, choco”.  We have established a connection. On two occasions, he has come to me straight from an Emergency Room, not because the doctor there was not capable nor because I am a better physician. It was simply because Joe and I “clicked”. He is one of the many autistic patients I truly enjoy working with. 

When my patients turn 18, they transition to a family physician for further care. In Canada, there is a shortage of family physicians, let alone doctors who have an interest and can take the time to work with an adult who has autism. I am somewhat concerned about who will take over medical care for Joe. It seems to me, it may put even more load on the shoulders of his parents. This should be a load we all share.

My hope is that through the ATN we will be able to identify more common medical problems in patients with autism that we can then, hopefully, manage. This in turn should help us provide even better care to the children, adolescents and adults with autism. And finally, I hope that we will continue to work hard on establishing a medical platform/model that will offer more help to our patients when they reach adulthood.

I hope I have given you some insight into the complex issues associated with autism. Perhaps, I’ve also connected with you. Making the connection with a child with autism for the first time is very special. Here’s to making many more!

 This is a special guest post by Dr.  Sonya Doherty, a Naturopathic Doctor specializing in Autism Spectrum Disorder and AD/HD. She has been practicing as a Naturopath since 2003, after completing pre-medical studies at the University of Western Ontario and post graduate naturopathic training at the Canadian College of Naturopathic Medicine.  She is a board certified Naturopathic doctor and member of the Canadian Association of Naturopathic Doctors.

In our own southwestern Ontario backyard, researchers at the University of Western Ontario are helping to build the case that autism is a biological disorder impacting the digestive tract, immune system and the brain.  With his team, Dr. Derrick MacFabe, M.D., Director of the Kilee Patchell-Evans Group, is investigating the possible role of gut metabolites in autism.  This award winning research has been listed among the top 50 scientific discoveries in Canada by the National Sciences and Engineering Council of Canada (NSERC). 

Using a novel rodent model, Dr. MacFabe’s team is identifying the possible role of the bacterium species Clostridia in autism.  Clostridia species are most well known for causing diarrhea from infections with C. diff or Clostridum Difficile.  Of particular interest to Dr. MacFabe was the Clostridial species because of its early colonization of the digestive tract, its ability to resist antibiotic treatment and ability to cause opportunistic infection in hospital and community settings.  It is well known that the risk of autism is associated with pre and post natal infection.  Dr. MacFabe and his team postulated that the overuse of antibiotics that has contributed to an increase in Clostridia infections could also be playing a role in the path physiology of autism.
 
So far the information discovered by the research group has shocked and awed the autism world.  Propionic acid (PPA), derived the Clostridia bacteria, when injected into rodents, resulted in dramatic changes in behaviour.  The PPA rodents, as they are referred to, have shown astonishing changes and have started displaying repetitive behaviours, spinning, seizures activity, convulsions, pushing away, hyperactivity, altered social interaction and impairment in “play” like behaviour. 
 
Upon examination, the brains of PPA rodents showed many of the same metabolic, biochemical and physiological abnormalities identified by other investigators including inflammation in the brain as found by Martha Herbert. M.D, Ph.D, pediatric neurologist and assistant professor at Harvard University, and Carlos Pardo, M.D., assistant professor of neurology and pathology in the division of Neuroimmunology and Neuroinfectious Disorders at Johns Hopkins University School of Medicine.
 
Dr. Pardo, senior author of a report on brain inflammation published in the Annals of Neurology, commented that his “findings reinforce the theory that immune response in the brain is involved in autism, although it is not yet clear whether the inflammation is a consequence of disease or a cause of it, or both”.
 
One of the most exciting aspects of Dr. MacFabe’s findings is that he is bringing together key research from other investigators.  Among the most significant findings are irregularities in immune function, brain inflammation and detoxification impairment.  Missing from all this incredible research being done across the globe is something that ties all of biological issues together into a working model of ASD.  While each piece of the puzzle is important, to date, no single avenue of research has been able to explain the complex interplay between genetics, environment, biochemistry and physiology.  That may be changing.
 
A Dr. MacFabe investigation into the role of clostridia and gut metabolites is changing the path of autism by bringing together ground breaking research from around the world.  He describes it, while addressing attendees at Canada’s inaugural Autism One Conference in 2009, as “a start, an important way to bring research together”.
 
There is a complex ecosystem in the digestive tract that is often referred to as the microbiome.  The National Institutes of Health, who also spearheaded the human genome project, is now setting on a course to sequence the genetics of the microbes that live in the digestive tract.  This Human Microbiome Project has identified that the human gut plays a crucial role in post natal development.  Dr. MacFabe’s research comes at a time when the view of autism is changing. 

Many leading investigators including Martha Herbert feel that autism is a “whole body disorder” impacting the gut, immune system and brain.  The digestive tract is the heart of the innate immune system.  The intestines and the immune system both play a key role in regulating inflammation. Studies have shown that 46%-85% of children with ASD have gastrointestinal problems including constipation, diarrhea, cramping and pain.
 
Dr. S. Jill James, Ph.D, is the Director of the Metabolic Genomics Laboratory at Arkansas Children’s Hospital Research Institute (ACHRI).  She has discovered some very important factors in the causation of autism.  One such finding surrounds an enzyme needed to detoxify metals and pesticides, called glutathione.  Dr. James found that glutathione is 80% depleted in children with ASD.  Dr. MacFabe’s PPA rodent showed this same depletion in glutathione suggesting a mechanism of increased susceptibility of the autistic brain to environmental toxicity. Other key findings by Dr. James include methylation, a biochemical cycle crucial for development and gene expression, as well as issues and oxidative stress. These findings have also been mirrored by the Clostridia research.
 

The links keep falling into place the more research is done on the PPA rodents. The UWO research highlights the ability of PPA to increase oxidative stress, shut off glutathione in the brain and induce multiple genes by impacting the methylation cycle.  Some of these genes are implicated in learning, neurodevelopment, learning, aggression and anxiety.
 
Much more research is need to put all of the pieces of autism together but this research is already changing the way that autism is viewed by the medical community.  Physicians using the biological model of autism to treat children are having tremendous success in promoting and enhancing development.  These types of treatments, termed biomedical, mean there is new hope for autism treatment!

Contact Dr. Doherty if you have questions at: info@treatautism.ca

Or visit her websites: www.treatautism.ca or www.naturallyhealthykids.ca