It is April, Autism Awareness month. I’m certainly pleased that this month is designated as such and it serves as a convenient time for me to reflect on the past year and try to look forward to the coming one.
I’ve entitled this blog post the “State of Autism” as this is my humble attempt to review what I feel are important issues related to Autism Spectrum Disorders (ASDs) in our state, Washington and the country. This is my 3rd time trying to do this and each time I’ve come away with the feeling that I barely scratched the surface of important things to discuss. What I have chosen to discuss are my choices, acknowledging that by doing such I’m leaving huge important areas entirely left untouched. That said, I have decided to discuss issues related to diagnosis, epidemiology, new science, local issues in our state, and treatment.
WHAT IS NEW IN DIAGNOSIS?
In order, as a scientist, to study and treat a human condition one has to be able to define it, to diagnose it, to classify it. You’d think we would know how to do that by now given all the interest about ASDs in the past 15 or so years. Nevertheless, diagnosis of ASDs has continued to be challenging on a number of fronts. Currently, I’d guess I personally feel confident in my diagnosis perhaps 80-85% of the time. But those other 15-20% remain perplexing not just for me, but many of my colleagues. As evidence of this, I’d like to share the results of an interesting conference held at Seattle Children’s this past June. The Washington Autism Advisory Council has sponsored a yearly “Autism Summit” bringing interested parties from around the state together to discuss how to improve care for children and families in our state. This year’s summit was also sponsored by Seattle Children’s Autism Center and the University of Washington Autism Center. Gathered were 90 professionals from across the state including folks who were actively involved with children with ASDs such as psychologists, psychiatrists, speech therapists, teachers, pediatricians, etc.
Three cases were presented to this audience, cases that were chosen from a research project that were felt to be particularly vexing diagnostically. Each case presentation included information about the history and patterns of development each child displayed as well as portions of videos showing the child’s behavior during ADOS testing. During and after each case presentation, each participant was asked to answer questions about the case via their own computers. We are still analyzing the data, but what is very clear is that no matter what your profession- psychologist, pediatrician, neurologist, etc. we don’t agree on diagnosis from time to time. This is true within disciplines and between them. This is significant as it implies that sometimes we may not be making “correct” diagnoses. We have, as yet, no way to determine how often diagnostic errors occur, but lack of diagnostic agreement is a problem.
We need better diagnostic tools! The new DSM-5 guidelines are certainly a step in the right direction. But what we really need are biologic measures to add to our behavioral tests. I’ll discuss these in greater detail in the What’s New in Science section below. The bottom line that we all agree on is that ASD diagnosis is often challenging and the best way to guard against diagnostic error is continued follow-up of a child’s development and behavior. Thus it is important to say that even in the best of circumstances we see children who as we follow them, we find they do or now do not qualify for an ASD diagnosis.
WHAT IS NEW IN EPIDEMIOLOGY?
Though it seems like a long time ago, it was actually only 1 year ago when the Center for Disease Control (CDC) issued its most recent estimate of Autism prevalence and once again the prevalence appears to increase. This was received, once again, as very disturbing information raising all the issues that have been discussed before about why there appears to be so many children being diagnosed with ASDs. Toward the end of 2011, another startling paper appeared which got relatively little press, but significantly influenced some thinking about the “true” prevalence. The researchers attempted to identify every child who met ASD criteria in a relatively small Korean city. Their data showed a prevalence of 2.5% which is 2 ½ times the rate in the US. The important difference is that every possible child was identified by actual examination by the researchers. The US data from the CDC was obtained by looking at medical and school records. If a child wasn’t diagnosed or in some way identified, the US methodology would not have counted them. If the “true” prevalence is closer to 2.5% then each time the CDC reports, the numbers will increase as we get better at identifying children in every community. For a more detailed discussion of the latest epidemiologic data please see our previous blog on prevalence.
Once again there was also a flurry of studies this last year attempting to identify risk factors for having a child with an ASD. These association studies have been very confusing. Over the years, studies have suggested associations including rainfall, living by freeways, age of mother and father, gestational diabetes, sibling and twin studies, use of cell phones, vaccines and many other factors. I have followed these studies for many years and still don’t know what to make of them. The results often are conflicting with newer studies coming to different conclusions. Nevertheless families are concerned when they read a report suggesting that there might have been something a parent had done or could have avoided that might have prevented a child from developing an ASD. To date there is no evidence that such is the case. These epidemiologic association reports should best be viewed as ways we scientists and researchers have to tease out what is really happening neurobiologically in children, teens and adults with ASDs.
WHAT IS NEW IN SCIENCE?
I’ll have to admit it. I love the science about how the human body works. Fortunately, I have chosen a field that allows me to explore my passion. Having practiced a long time, I can reflect on how amazing are the technologies we now have to understand how our bodies and brains work. Each year when I go to the International Meeting for Autism Research (IMFAR) to hear the latest in scientific thought or review some of the papers published in the past year, I reflect on how far we’ve come in a short time. Increasingly, we are able using the technologies of genetics, brain imaging, cellular studies and EEG to understand how the brains of people with ASDs work. As expected, it is amazingly complex. The latest in genetic studies show that our early assumptions of finding a limited number of genes that are associated with autism was naive at best. Latest estimates show up to a few hundred genes that may be associated with the spectrum. Interesting recent studies are suggesting that though there are many of these genes, they tend to interact with similar functional brain pathways. It is appearing that though there are many genes involved, they seem to control similar biochemical mechanisms. We are starting to understand how the “social brain” works. Not surprisingly, the “social brain” doesn’t exist in only one place in our brains. It is widely distributed and the lack of effective interconnections of the “social brain” appears to be part of the puzzle of autism.
Our DNA, our genes, are the blueprints for how our bodies are built. The DNA code for each gene causes the production of another chemical RNA, which is produced when the gene is active. Not all of our genes are turned on, producing RNA in all tissues at all times. RNA then goes on to be the code for producing a protein. It is these proteins that do all the chemical work of building the various tissues in our bodies and brains. To date, much of the genetic work in autism is focused on DNA. But this is only part of the complex picture. In the next few years, we will have the ability not just to look at genes but as or more importantly, what genes are actually actively producing proteins that run our bodies. A new study just being organized that we at Seattle Children’s Autism Center will be joining will attempt to use an experimental RNA chip to see if we can identify children with ASDs by the pattern of actively produced RNA. This is one step in unraveling the puzzle necessary to find more effective treatments.
Last year also saw the publication of an important study led by Dr. Sara Webb and others from the UW and Seattle Children’s Autism Centers. Dr. Webb showed that certain EEG patterns changed, looking more like normal patterns, following Early Intensive Behavioral Intervention. This suggested that we might have a biologic way to measure improvement following a developmental/behavioral intervention. As we’ve always hoped, sometimes our interventions actually change the way brains of young children work moving toward more normal patterns.
WHAT IS NEW WITH SERVICES IN WASHINGTON STATE?
This has been an exciting year for the expansion of services to children and adults with ASDs. There have been successful class action lawsuits, which have required a number of health plans to provide applied behavioral analysis (ABA) services for children with ASDs. So far people that have Medicaid, State Employees Health Plan (PEBB) and Group Health now have potential access to ABA services. Whereas in other states legislatures have mandated that ABA services be paid by health insurance, our state legislature has refused to date to take up this issue. So a few public interest law firms took up the cause and won. Certainly, these lawsuits cover not all health plans. But these cases have set important precedents that will affect future cases. Now that ABA services can be paid for, at least for some families, the challenge will be to have enough well trained ABA providers to take care of the larger populations that can receive such care. Right now in Washington State we have too few providers. Nevertheless this will likely change now that services can be reimbursed through health insurance. ABA is one form of behavioral therapy that has been shown by research to improve capabilities in some people with ASDs. It is the opinion of the state’s experts that almost all children with ASDs should be given at least a trial of ABA in addition to the intervention services they get via public schools, early intervention programs and community speech and other therapists. Making this service available to all who could benefit, is the challenge of the next few years.
This year also saw the opening of the first program for adults with autism spectrum disorders. The University of Washington Adult Autism Clinic opened in September 2012 under the leadership of Dr. Gary Stobbe. This program is just starting to grow and represents a huge step forward in providing services for people with ASDs throughout the lifespan.
Lastly, I need to mention the continuing work of a statewide body, the Washington Autism Advisory Council (WAAC). This group of interested people from around the state has been meeting in various forms since 2003. The grant funding that supported this activity ended two years ago, but despite that, these quarterly voluntary meetings continue with lots of enthusiasm. I would add a particular shout out to David Maltman, from the Washington State Disability Council, for taking on the leadership to organize these meetings. The council’s main project continues to be to support and help develop local resources in smaller communities throughout the state. With the substantial help from the UW LEND program, the WAAC has projects in Walla Walla, Island County, Lewis County, Yakima, and others with ongoing plans to expand these community based programs to enhance local autism services in all parts of the state. There are many opportunities for individuals to help assure that all persons with ASDs get excellent service no matter where they live. Community education is an important part of our advocacy effort. I’d be remiss in not also mentioning the work of the team coordinating the Autism 101 and Autism 200 Series of presentations that occur via statewide teleconferencing throughout the year. Stay tuned for announcements in other blog posts about upcoming presentations.
WHAT IS NEW IN TREATMENT?
The mainstay of treatment for ASDs has been community based special education, speech, occupational and behavioral therapies. Recent studies do show improvements in many with early intervention, intensive behavioral therapy such as ABA and excellent school and community programs. Nevertheless there are many kids who do not respond to a significant degree with these therapies. Research with drugs has shown that a few medications, particularly Risperdal (risperidone) and Abilify (aripiprazole) can be very effective in helping with severe behaviors such as agitation, aggression and self-injury. Other medications have more variable responses, but still can be useful. One very interesting possible new drug, arbaclofen is being evaluated for treatment of Fragile X as well as autism. What makes this drug especially interesting is its use came about after understanding some basic cellular physiology. One of the receptors on neurons, the mGluR receptor’s chemistry is involved with multiple conditions that have high incidence of autism-like disorders. Some of these known single gene mutations are Fragile X, Neurofibromatosis, Tuberous Sclerosis, Rett Syndrome, and others. Understanding how parts of the neuron work helped researchers to come up with a drug that might help people with autism. This sort of method may very well likely be the way to come up with increasing more targeted and effective medications. Starting with knowing how brain cells work, should give us the same advantages in therapy that understanding cancer cells has done to cancer therapy. Much work still to do, but treatment using traditional approaches, current and future drugs, has slowly and will continue to improve the lives of people affected by autism.
Having finished this blog post I realize once again how privileged I am to live at a time of such exciting work being done on multiple levels to improve the lives of children and adults with Autism Spectrum Disorders. This work could not have happened without the energy and love that so many people, parents, professionals, and community advocates have brought to help our fellow citizens.
So light it up BLUE the rest of the month and keep the energy flowing!
Early Behavioral Intervention is Associated with Normalized Brain Activity in Young Children with Autism. Dawson, G, et.al. Journal of Amer Acad Child Adol Psych 2012 51:1150-59
If you want help in diagnosing you need a parent on your team,living with autism every day. “This year’s summit was also sponsored by Seattle Children’s Autism Center and the University of Washington Autism Center. Gathered were 90 professionals from across the state including folks who were actively involved with children with ASDs such as psychologists, psychiatrists, speech therapists, teachers, pediatricians, etc.” It is great that you folks want to understand autism but you will never really get it unless you live with it.
Thank you for this comment. The contribution that parents make in helping us professionals understand Autism Spectrum Disorders is invaluable. Nevertheless the logistics of having a parent part of every diagnosis we make are formidable. Currently the Seattle Children’s Autism Center is seeing about about 1,600-1,700 patient visits a month, a substantial proportion of those being diagnostic assessments. There are also Federal laws, which due to privacy concerns do not allow us to share clinical information about any of our patients except for people employed by the hospital. So what are we doing to have parent voices part of our considerations? Many of our staff are already parents of children with ASDs. Additionally, we have a parent advisory committee that meets regularly to assure that all our programs include a parent voice. We would certainly appreciate any other thoughts you or any of our other readers have about how we can improve our assessments and treatments.
Thank you Dr. Cowan! Reading this, I could hear your voice! We miss you and love you for all you do. Jennifer (and Dominic!)
Hi Dr. Cowan — as a mom of a child with an autism diagnosis, I appreciated your post. However, I was disappointed, to see a medical doctor not touch any of the underlying medical conditions that are so common in kids with autism such as gut permeability. The emerging research shows that autism is often a chronic inflammatory process in the brain, as opposed to a structural brain difference. This is important because an inflammatory process is something that we can reduce/control if you can diagnose the root cause of the inflammation. But today, once children get a diagnosis of autism, any underlying medical conditions and physical symptoms of ailment are dismissed and not diagnosed. My son for example had chronic diarrhea. For a year, no tests were run and we were told that diarrhea was common in kids on the spectrum. Finally we found a Dr. at the UW who would listen and ran a stool analysis to discover that my son had Giardia and Clostridium Difficile. While my son is doing amazing, I often wonder how he’d be doing if he hadn’t missed a year of his life living with Giardia and C. Diff. Do you have any insight into what will it take for Dr’s to start having a conversation about autism being treated as a medical condition?
Thank you for this comment. I agree that many children with ASDs have significant GI symptoms of constipation, diarrhea, abdominal pain, etc. I did not discuss these issues in my “State of Autism-2013” discussion for a few reasons. First of all, the field of autism research is huge. In 2012 there were 2885 research articles listed in the National Library of Medicine database, PubMed. As I did mention in this blog post I could not possibly do justice to all the research themes that are being investigated.
There is some, but so far not lots of evidence that inflammation in the brain is a major process in autism. The evidence of structural brain differences is much more robust. Abnormalities in immune regulation have had very conflicting research data, and the notion of “leaky gut”, though an intriguing possibility, has had very little reproducible evidence, much less evidence that it’s treatment changes the core features of ASD. There is certainly lots of evidence that children who have intestinal problems need comprehensive evaluation for treatable conditions such as gastro-esophageal reflux, intestinal infections like Giardia, inflammatory bowel disease (Ulcerative colitis, Crohn’s Disease, etc.), chronic constipation, bowel motility disorders, and others. Treating these conditions can certainly have significant functional benefits for such children.
Finally to respond to your last question, I always teach my colleagues and students, and when talking to other physicians about autism, that they need to listen to parents concerns, take them seriously and review the known literature as well as ask for consultation from experts in the field. Autism is a medical condition that is caused by multiple problems including genetic differences, structural brain difference, problems in brain chemistry and connectivity, maybe inflammatory processes and many many other issues we don’t yet understand or know how to treat. We do need to continue to keep a very open mind about these possibilities, but also look carefully at the research evidence that supports or refutes these ideas.
Hi Dr. Cowan, I’d like to hear your take on this large study from UCDavis that found kids with autism were 7 times more likely to have GI issues.
We desperately need doctors to stop “seeing what they believe and start believing what they see” and help these kids get better.
In kind regards, Mardi
Please see my blog about this: https://theautismblog.seattlechildrens.org/autism-and-gi-issues/
I started a program for high school students with autism in the late 1990’s before people were talking about the fact that our children with autism do not stay children. When I attended workshops on autism at the University of Washington, which at the time focused on early intervention, I would raise my hand and say, “What will we do when they grow up?” I also asked, “Am I the only one focusing on adolescents with autism?” I am happy to see that others are finally jumping on board and realizing that autism is a neurological disorder than does not go away after the age of 5. I now have a son with autism. He is 11 years old, is nonverbal and we are still trying to teach him to use the toilet, (not the potty), to defecate versus his pants. I know you hve to focus on why autism is growing at such a high rater, but we still need to think about the kids that are growing up and will need life long services. I am almost 50. When my son is 50 I will be 85 years old. Where will he live? What kind of quality of life will we have? Will we then put some money into our adult population with autism? If one in 80 children have autism today, one in 80 middle aged people will have autism some day. Must we always be behind the eight ball in this field?