I cannot tell you how excited, nervous, anxious and completely giddy I was to go to the autism symposium. I went last year by myself (that is a whole other story that I will share, sometime) and it was a good presentation from all of the doctors, I learned a lot. This year I was excited because they were doing presentations on:
- The Genetics of Autism Spectrum Disorders by Abha Gupta, MD, PhD
- Research Update: A Quantitative Approach to Discovery of the Origins of Autism by John Constantino, MD
- Treatment of Autism Over the Life Course: Critical Components of Biopsychosocial Intervention by John Constantino, MD
- Pivotal Response Training for Children with Autism: What It Is and How To Do It by Laura Schreibman, PhD
I cannot possibly write enough about these topics or the speakers to give the symposium the justice that it deserves. I will, however, provide as many links and studies that I am able to research in the amount of time I have. There was a strong emphasis on evidence-based resources. Everything they spoke on had studies to back up their information and peer reviews.
When it was an opinion or when other researchers may not agree, it was clearly stated.
I found all of them to be humble and articulate speakers who were passionate in their field. I think that because of that it made the talks more interesting and easy for someone like myself to get very excited about what they are doing and the future of ASD studies and therapies. I want to be clear that what I am writing are my personal views and how I understood each speaker. I stated earlier that I will provide links, as much as possible for others to read, investigate and decide for themselves how they feel.
The Genetics of Autism Spectrum Disorders By Abha Gupta, MD, PhD
WOW! This topic was so incredibly fascinating and confirming. Her research is currently using the state of the art technologies. I was loudly saying things, like “Awesome! Wow! and “David, you have to write about that!”, when she was describing their research and the instruments they were using to study genetics. One of them is from RainDance Technologies. I won’t try to explain how it works because their website can do that. Another that is up and coming is the Whole-exome sequencing, but the current cost is $5000 per sequencing. Yale researches are said to be the first to have a true diagnosis from using Whole-exome sequencing.
I found this article on the PNAS journal.
The basic theme that she continued to emphasize was that there is no clear gene that can be found to be the “autism” gene. Many factors play a role in the hereditary gene pool. Though there may be several genes that have been located in different research, researchers still disagree as to whether these are legitimate “autism gene” finds. Bottom line, everyone with ASD is different and their brains process differently. However, being able to find common genes can help in the future of early intervention and possible medications that could better the quality of life for those with ASD.
With the new technologies, discovering the common genes can be a reality sooner than later.
I was very pleased with the research revealing what many of us say all the time, we are all different, though we may have some similarities. It is true you cannot box in how any of us on the autism spectrum think and feel. I have left out a lot of the gene specifics identified and how she explained that the chromosomes can have only a slight deviation and it can actually be found in a breakpoint in the strand. A lot of technical terms that I do not want to mistake so I am putting up a link to her publications here.
I will end with one of her quotes:
“There is no one gene for autism, not even a few. There are likely dozens, perhaps hundreds.”
Research Update: A Quantitative Approach to Discovery of the Origins of Autism By John Constantino, MD
Here was the outline for this talk:
- Autism is a quantitative trait (review/update) (MUST READ! AWESOME!)
- Gender disparity in diagnosis may be an artifact of shift in general population distribution (Constantino et al., 2010)
- A large share of the totality of genetic influence (not just single specific susceptibility factors) on a given neur0developmental condition may cause other distinct neuropsychiatric conditions (Lichtenstein et al., 2010)
- Genetic influences that confer susceptibility to disease are responsible for general population variation (St. Pourcain et al., 2010); search for genetic causes may be accelerated by exploring genetic effects on joint phenotypes, or phenotypic association with specific combinations of genetic variations.
- Some neuroimaging phenotypes may relate more closely to variation in genetic susceptibility than to disease status (Scott-Van-Zeeland et al., 2010)
- Response to biological motion may constitute a fundamental component variation in the ontogeny of autism (Lin et al., Kaiser et al., 2010)
He shared that autistic traits are continuously distributed in the general population. Through the current studies that are taking place, though there needs to be more, the findings have shown that in families with children diagnosed with ASD, the siblings show ASD traits as well. What his group is trying to research is the tipping point that makes one sibling with a set of traits cross the line into diagnostic ASD while another sibling shows much fewer phenotypes associated with ASD. The severity of signs and symptoms may be different in every individual.
The scale needs to be changed, especially for girls.
The belief that boys are the ones most affected is not necessarily the case, because girls are affected and their symptoms manifest differently. The one thing that is of interest is how girls are more easily able to adapt and be able to function in society while boys have a more difficult time. If that information could be determined than it would be very beneficial to early intervention. Personally, I wanted to stand up and shout, “Some of us are great actresses!” and “Some of us can mirror!” But I didn’t think that it was appropriate.
In case you missed it in the first section here is his article on Autism is a quantitative trait .
I found it interesting that they have discovered that the proportion of uncles affected is overall 3.1%, this is for either side of the family. This is proven to be true for our families. Even though they have not been diagnosed, there are clear signs and stories from childhood that would back up a diagnosis. They have found silent carriers in the gene pool which means that both parents could be neurotypical but be a silent carrier of an ASD trait. Not only for autism but for diseases like PKU, Hypertension, Hirschsprung, Alzheimer’s, and Schizophrenia.
He was very passionate about people getting involved in research and participating in studies.
He spoke about the injustice of misdiagnosis of girls and for woman and men who are adults currently undiagnosed. I really appreciated his effort to educate us on the lack of information about girls on the spectrum and how everyone needs to do better by the girls. He spoke about his concern with the DSM-V proposal and how he and many of his colleges have written their complaints and are trying to get changes made to make it a better criteria. He feels that if the new criteria passes it will cause alarm for many misdiagnosis. That was very good to hear.
In his conclusions he had this quote:
“As we are seeing with the common psychiatric disorders of adulthood, patterns of underlying genetic liability do not map well onto current DSM catagories.” ~K. Kendler, Am J Psychiatry November, 2010
Treatment of Autism Over the Life Course: Critical Components of Biopsychosocial Intervention By John Constantino, MD
While searching for more information I found this article that I found very informative.
He discussed the M-Chat – we had filled this out previously for Daniel.
He spoke about the Early Start Denver Model. Based on this study they feel that children need to begin screening for autism between the ages of 18-24 months. They were able to achieve very good results with early intervention.
He created the Social Responsive Scale: Quantitative, he said that it is not a perfect tool but is a good resource to start with.
He spoke a bit about medications and how they can be beneficial.
Of course, the importance of weighing the risks to the benefits. I was really impressed with his view on making sure all other avenues have been addressed before going down the medication route. He shared a story about a mother who was very concerned with her sons G. I. tract and the toxins in his body, he did not dismiss the problems that can occur in the body of a person with ASD, but he did say to look at everything. It turned out one of the reasons that he was having so much trouble with aggressive behavior was that no one taught him “time-out”. Everyone had been concerned with the foods, GI problems and toxins, and always assumed that was what his problem was. He was allowed to be aggressive because they didn’t think it was his fault. He was taught some skills in control and discipline and showed tremendous improvement.
He discussed some of the medications that are used.
He explained how some have been wrongly used but that others that are used for ADHD can be very beneficial to those on the autism spectrum. I am not writing out the drugs because I do not know enough about them and feel that it would be irresponsible on my part to share that information without the proper knowledge.
He was very clear in his belief that we need more research.
He asked if anyone had heard of the IAN Project, I thought the IAN Project was common knowledge in the autism community, maybe it is but it at the symposium it turned out to be only 5% of us who had heard of it. I think the medical community should really emphasize this information with all of the families that they interact with. He also mentioned AGRE, I know some people may not be into research studies but for those who are these are great resources to check out.
We all need adequate sleep. If the person with ASD is not getting adequate sleep, all other means have been addressed, medication may be a necessity.
Ensuring Adequate Classroom Intervention 1
- Protection from predation-he emphasized how a child knowing that he is being protected from bullies can make a significant change in attitude and ability to do well in school.
- The utility of 1:1 support
- Asocial does not equal Antisocial (I say THANK YOU!)
- Observing for sensitivity to marital discord
- Attending to “non-squeaky wheels” – pay attention to those who are not making any problems but are suffering in silence.
- Recognize co-morbidities when present
- –ADHD (disproportionate hyperactivity)
- –OCD (disproportionate obsession)
- –Mood disorder (disproportionate mood fluctuation)
- –Anxiety disorder (HELLO ME)
- –Psychotic disorder
- Autistic Syndromes in the Context of Adolescent Development
- Advances in cognitive development (Formal Operation Thinking/Anticipating the future)
- Identify Formation (SELF) Who am I?
- Redefining “OTHER” (De-throne parents)–How do I fit in the world/universe around me?
- Morality (risk-taking/omnipresence)–What do I do with the knowledge that I am going to die someday?
- Meaninglessness–(creation of meaning where little exists=espousing radical causes)–What does my life mean?
- Isolation (affiliation for its own sake) –What do I do with loneliness and the idea of being alone in death?
- Choice (externalizing responsibility, defaulting on decision-making)–How do I choose from the infinite array of possibilities around me?
Ensuring Adequate Classroom Intervention 2
- Managing the dwindling of social motivation when it occurs
- Applying academic work to restricted interests
- Initiating vocational applicable
- Good psychiatric care can trump “expertise” in autism
- Supporting/Respecting identity formation
- Sense of competence
- Taking responsibility
- Unique niche (farm/internet/creative arts/performing arts)–domain of “belonging”/ being valued
- Tolerating awkward attempts to create meaning and assuage fears if being limited (in life span and sphere of influence)
Special Considerations in ASD
- Urgency of Treatment
- Crisis level Disruptive Behavior
- Window of development opportunity being lost
- Mental Age/Development Level
- Unique challenges of transition to adolescence (BW)
- Assenting Cognition in non-verbal AD subjects: Electrophysiologic options?
- Communicative Capacity
- The extent to which communication deficits underlie problem behaviors
- The adequacy of a communication system
I found both of his talks very confirming.
He was giving us studies and information about how we have basically approached our daily life. I found it interesting that he was so passionate about helping girls and families being actively involved in the therapy on a consistent, continual, and inclusive basis. I felt that information he gave was clear and informative and that there was an emphasis on helping people at any age on the autism spectrum but that we can see better results the earlier we react. Of course this is not for every case but it is worth trying.
Pivotal Response Training for Children with Autism: What It Is and How To Do It By Laura Schreibman, PhD
This talk was the most gratifying and confirming to me. The approach that she has been working on is extremely similar to what I do at home. It has proven to be the most beneficial for Daniel. The only difference is that I do not segregate. I have not felt like one-on-one time is the best approach for Daniel. That is one of the reasons why when we would come home from therapy I would take everything we learned and do it with all three of the children. I am not saying that I am better than a professional AT ALL! I am saying that I did/do what seemed natural for our family and surprisingly it was incredibly consistent with her research, for the most part.
I am not allowed to share the information from the packet given, it states that it is for the program only so I will share her work and anything else I can find.
So what is Pivotal Response Training?
Pivotal Response Training (PRT) is a naturalistic, behavioral intervention approach developed by Drs. Robert L. Koegel & Laura Schreibman.
You can read Pivotal Response Training Theory by clicking on it.
Side note: I found this article that she wrote that I thought was good. The Science and Fiction of Autism
She went over ABA therapy, starting with the original form of ABA therapy.
She did say that it was not the best approach but that it was a start. Since I cannot duplicate her information and now my brain is processing a lot I will provide this link to share the brief history and different approaches of ABA Therapy. Applied Behavior Analysis (ABA) If you find that background distracting, this is a good link also, What is Applied Behavior Analysis? Unfortunately, her talk was cut short and she was really unable to go over everything she had planned. A lot of her presentation involved do and don’t video’s. Again an emphasis on research and more naturalistic approaches.
Overall I thought the symposium was awesome.
I learned a lot and got excited about the research being conducted and where it is heading. For those of us who feared girls will not get their recognition that they deserve and help that they need, I see hope. These speakers are some of the frontiers in the autism research and they are speaking out and getting their message across. What I liked hearing as well is how they saw how each of their own research interconnected and how this can be a huge benefit for the future of autism and many other neurological issues. If all of the medical fields start that line of communication, then we will start seeing huge improvement in many areas.
I gained so much confidence that we are indeed doing the right thing for our family.
Other families may benefit from variety means of therapy and medications and I think that it is great that with genetics research we may be able to help those needs sooner. We definitely have considered and have not ruled out genetic testing but we have no insurance and even most insurance carriers will not cover it at this time. BUT look to the future! In the mean time, what we can rest in is that autism definitely has genetic components, that may or may not be enhanced by environmental factors. It varies for every person.We can be confident that the more people who become aware and participate with research we will find more answers and have clear data to prove the quantitative traits.
Early intervention and most of naturalistic involvement has huge benefits.
The more that the family is participating, turning their home into an environment of therapy as well as schools/teachers and medical influences all working together, the better the quality of life is for those on the autism spectrum. It sounds like a fairy tale, it’s all nice if only it could happen. I know, but I do think the future looks hopeful and that we will see changes in the medical community involving more family involvement and family education. My heart is to see more parents equipped to help their children at home and in their community, so when I hear about those kinds of things I get excited. My take away, hope, better understanding and enthusiasm.
I give props to all of the speakers, they were great and their enthusiasm was contagious.