New Hypothesis for Cause of Autism

In March I had the pleasure of attending a symposium at UC Davis MIND Institute about gene-environment interactions in autism causation.  A Morgan Autism Center parent, Jill Escher, opened the conference with a short talk about a surprising discovery that may have considerable implications for autism research.  You can see the video here: autismepigenetics.org.  Just scroll down the home page and you will see the videos listed with Jill's at top.  Note that the videos, which link to the UC Davis website, may take a little while to load.

In brief, Jill was intrigued by a casual comment a family friend made to her when she was quite young. The friend referred to Jill as a ‘miracle’ baby. She got to wondering what was so miraculous and that led to Jill obtaining her own prenatal records.  That alone is a miracle. How many of us could access our mother's prenatal records? She discovered she had been heavily prenatally exposed to synthetic hormone drugs that were not uncommonly given to pregnant women in the 1960s. Because her mother was given medications, she was part of a study about which Jill also obtained information. Not one to wait around, Jill contacted scientists from around the world with questions. After speaking with many experts, she developed a hypothesis now known as the "germline disruption hypothesis of autism," that ties these novel mutations in autistic (and other) children to various acute exposures (including drugs, maternal smoking, endocrine disruptors) that disrupted the proper epigenetic (chemical tags that control gene expression) programming of a parent's gametes, sperm or egg.

Jill pretty much single handedly pulled together this remarkable assembly of scientists at the UC David MIND Institute for this symposium. The other videos from this symposium featuring top experts in this field are also fascinating, though many are highly technical and involve intricacies of molecular biology.  The whole event was exceptional. Of course, it has led to more interest in the field. Jill was recently invited to speak at a National Institute of Health with Autism Speaks in DC and just today, an article was  published in Environmental News. http://www.environmentalhealthnews.org/ehs/news/2013/autism-epigenetics. 

Jill has also been invited to do a TED talk. Things are definitely happening because of this one mom's tenacity. Congrats to Jill and let's hope this discovery helps move autism research in promising new directions.

Air Pollution and Other Environmental Concerns for Autism

Yesterday, the journal Environmental Health Perspectives  looked at associations between levels of pollutants pregnant women are exposed to considering the time and place of exposure. They suggest that women who were exposed to the highest levels  of diesel or mercury were twice as likely to have a child with autism compared to those who lived in the cleanest areas. Other types of air pollution, such as lead, manganese and other hard metals, were also linked to a greater risk of autism, though not as high as diesel or mercury. All are known neurotoxins. Much more work needs to be done to determine which pollutants are most damaging and then help people make choices about their living situations. Not surprisingly, people most affected are going to be in lower income brackets, living close to freeways. And we also know that  farm workers and those living downstream or downwind of farming areas have an increased risk as well.

With the huge increase in autism numbers, there is a tendency to dismiss the tsunami of people coming our way and write it off to better diagnosis. But at some point, we have to look at the environment and how toxins have dramatically increased over the last 30 - 40 years. It is my contention that along with a genetic susceptibility, the environment exposure is huge.

The availability of pharmaceuticals has become very commonplace. I don't think people realize that each person's consumption of drugs affects us all, as everything we consume ends up in the water system. Also, the ubiquity of birth control pills, hormone therapies, in-vitro fertilizations, steroids make all seem benign. But what are the consequences of all these pollutants, contaminants, pharmaceuticals or whatever we call them? It reminds me of a TV commercial in the 70s with the tag line being, "It's not nice to fool with Mother Nature!" And that is so true. We may all be reaping the results of our increased technology and maybe the results aren't so wonderful after all.

Today is World Autism Day. We want to make sure to celebrate all the individuals with autism and be aware of their dreams, aspirations and of course, their needs. Every person with autism has a family that has also been effected. It is critical to recognize that families as well need to feel acceptance and a sense of belonging. Being able to participate in family/community activities is so important to all those dealing with autism. Isolation is very common, so we all need to open our arms and minds to welcome these people into our lives.

So often, I think of the many pioneers in the world of autism. Parents who years ago were told that they were responsible for their child's disability. The condemnation, fear, and rejection they were forced to endure makes one wonder how did they manage to forge ahead and get as far as they have? I so admire some of our older parents whose lives were tremendously effected by the erroneous claims of Bruno Bettleheim and his "Refrigerator Mothers." Leo Kanner's original description outlined so many things that were later disregarded in favor of Bettelheim's theory, and in the process, we lost 50 years of potential progress. I salute those parents who knew in their hearts that they were not the cause of their child's disability and plowed ahead to make the world as good as it could be for their children. We've come a long way, but still have a long way to go!

Moving to Less Restrictive

Moving from a highly structured program such as ours is to a less restrictive setting can be nerve wracking for all involved. But what a happy day it is when a student is able to successfully transition back to their local school district. We recently had such a great experience with one of our school students who has returned to her home school. Although her father approached the day with trepidation, he also was thrilled to see that his daughter had come such a long way since her initial arrival with our program. Those were some very trying times when she had hours long tantrums,  stripped when she couldn't get what she wanted, and had a scream that was very effective in deafening everyone near. This last year, she truly blossomed both academically and socially. And so it became apparent that it was time for her to move on to a less restrictive setting. Working carefully together with our staff and her new teacher was paramount to a successful transition. We know from long years of experience that our students' behavior management must be done with an in depth understanding of autism or things can backslide in a hurry. With meticulous planning, her teacher here and the receiving teacher worked to make  everything as smooth as possible for both the student and parent. As everything was in place, the student moved to her new program and so far, it has been very successful and she is participating with her new peers and following directions well. We couldn't be happier, and are sure we will continue to be in touch with her family. It is certainly a moment to celebrate!

Convoluted Connections

Ever wonder how any of us can take a little piece of information and extrapolate that  to create our own unique answers to the mysteries of life? Imagine that process in the mind of a person with autism. Here is a case in point: years ago, Jeff, like so many people with autism was fascinated by maps. So, one day he and I were looking at a map of the world. Jeff asked me why England was sometimes called Britain.  I briefly explained that the Romans had conquered much of Europe, and that at one time there was a saying "all roads lead to Rome." And that was the end of our geography discussion. Jeff's interest in maps continued and apparently so did his thinking of how countries could be connected. Several years later, Jeff would randomly announce his conclusions, which were many and quite convoluted. Since I spoke with him daily, I began to see the thread of his thinking though it has taken many twists and turns over the years.

Here is an example of one of Jeff's unusual conclusions and how he seems to have arrived there: we once had a staff person from Australia, which Jeff knew was part of the British Commonwealth. He also was aware that Tasmania was close by, and so from that bit of knowledge he decided that people from the British Isles were 'Tasmanian Brits' as he would say. From that, he went on to talk about how a true Tasmanian is a combination of Mexican and British, this based on another tidbit of knowledge about the Spanish Armada running aground in England. If you remember your history, you'll know that some of the Spanish sailors sought refuge on the shores of England. Hence the Latin connection in Jeff's mind. Its all a stretch and very convoluted, but it is not impossible to see how he comes to his conclusions. However, if you were meeting Jeff for the very first time, you would be baffled by his  garrulous conversation about nationalities and his very definite statements about what is what. You could certainly not be criticized for thinking his conversation made no sense. But there is a logic to his thinking, but it does take a bit of explaining!

The Importance of the Social Impact in Autism

A recently published research paper in the Journal of Child Psychology and Psychiatry conducted by a group of investigators from the University of Connecticut found a small group of children , originally diagnosed with autism had managed to learn to function as well as their typically developing peers, without any symptoms of autism.

This is a very unusual scenario as people with autism seldom lose their symptoms, though many show progress and improvements, particularly with intensive interventions. Outcomes for these children can vary significantly, but not typically to this level. And of course, we always wonder was the child misdiagnosed in the first place? The study addresses these concerns, but interestingly notes that those children who were initially diagnosed with autism, but who were noted to have a mild social deficit, were among those who were in the optimal outcome group. To me, that explains a lot. Of the three main deficits characteristic of autism, (communication, repetitive behaviors/interests, social) it is the social deficit that so defines the disorder. If a child can learn the "mechanics of interaction, the skills we use in daily social situations in all areas of our lives" as Temple Grandin says, this will have a huge positive impact on the child's life.

Although we don't know the exact interventions the most successful children in the study were offered, I would expect that there was a significant emphasis on social skills and making social connections. Once the broad frameworks of social awareness develops, real relationships can be forged that are meaningful and continue to build on themselves. This is so critical to a child's success in the world.

It is encouraging to see some of the very strict ABA programs beginning to recognize the importance of the social/cognition connections. It has certainly been what has been missing in the past with these methods and techniques. It seems that maybe now interventions are seeing the significance of a more naturalistic approach to facilitate a better awareness of social situations and social thinking.

Autism and Violence

Though we are all reeling from the unspeakable tragedy of the Sandy Hook Elementary School, I think it is imperative to note that there is no likely link between Autism, Asperger's and the violence that occurred last Friday. The sadness of the day is overwhelming and will be for a very long while.  However, in my opinion, the focus should not be on autism, but on providing the necessary supports for people with mental illness. Services and meaningful help in this area are sadly lacking. And even then, it is important to realize that the majority of people with mental illness are not going to do what Adam Lanza did. No one has definitively said that Adam had Asperger's and if he did, I believe he also had some other comorbid but undiagnosed disorder. That said, it is clear that some people with autism may display aggressive behaviors occasionally. But it is completely different from the kind of violence exhibited in Connecticut. There is no evidence that connects this planned and intentional violence with autism. Naturally, when you have significant trouble communicating, as people with autism do, and then get frustrated, one might resort to an angry response or outburst to a situation. This might involve hitting, throwing something, pushing someone and most likely, the episode would be over relatively quickly. Of course, there are times when a person with autism may unintentionally hurt another in an angry response, but it is not with forethought or malice. The anger or aggression displayed is usually just to stop the other person from causing them frustration and/or anxiety.These responses typically are reactive and impulsive to a specific trigger and given space and some time to calm down, everything will be back to normal. It would be highly unusual for a person with Autism or Asperger's to have the considerable forethought to plan, organize and then follow through with an event such as we saw last week. It would be a grave injustice to persons with autism and/or Asperger's to connect that with the horror of the shooting of 26 people.

Our hearts are so saddened by the death of so many innocent children and adults. And we hope that someday soon, our society will have realized that we cannot allow people with clear distress signs continue to slip through the cracks.