Serena Hua, undergraduate at UCSD studying Neuroscience and Psychology, founder and president of Awareness and Action for Autism
My purpose in attending the IMFAR Community Conference was anything but to solely learn about the latest research on autism. That is not to say, however, that I was not guilty of clinging to the edge of my seat desperately absorbing all the mind blowing information that was being presented to me and the sea of at least 200 or so parents, doctors, researchers and teachers. Captivated I was, despite being an undergraduate here at UCSD where these kinds of exciting research surround you each and every day, I didn’t see the conference as the sole opportunity for me to dive into all that was going on in the science hemisphere of the ASD world. I was here for other reasons.
The crowd of attendees, consisting of mostly parents and professionals that work with individuals on the spectrum were, on the other hand, all here for the research and the new knowledge. I couldn’t help but notice how enthralled they were to be there, to meet other parents and, most importantly, to learn about how dedicated individuals like themselves were playing their own part in this battle against autism. They sat hour after hour, listened to talk after talk, bombarded the speakers with questions one after the other – a feat us college kids won’t even dream of accomplishing. They made every minute of this conference worth their time, ensuring that their questions were answered or at least acknowledged with a ‘good question!’ kind of response. Sitting there next to a grandparent of an ASD kid and cracking up over the diverse panel of absolutely brilliant young adults with Asperger’s, or “Aspies” as they call themselves, I found myself savoring every second of the conference.
What I remember most from the day was when Stephen Shore and John Elder Robison spoke during one of the breakout sessions about their experiences as individuals with ASD. As they were sharing their quirks and insights on the disorder, I turned to look at everyone around me, and smiled to myself. I couldn’t pinpoint why, but at that moment, I was so happy to be where I was. To me, these were people who stood for the hope that someday my own six-year-old cousin could have his own family, lead his own life, and stand for what he believed in. I felt like I wanted to shout that to the world, and I wondered if those around me were feeling the same way.
Last year, I started the Awareness and Action for Autism organization, which aims to find opportunities for college students to help out in the ASD community. My organization stemmed from the feeling of helplessness when it came to helping my autistic cousin; away from home, I could not do anything significant to support him and his family at a time when they needed support the most – and that killed me. This was my effort to do my part. Starting this club was my effort to inform those who didn’t know a thing about autism – raising awareness. I also wanted to channel other students’ desires to help into producing practical outcomes, like our Peer Mentoring Program and Journal Clubs, with goals to ultimately benefit those with ASD – that is the action part. If I couldn’t directly help my cousin, the least I could do was to try to help others.
In the end, the real reason I attended the conference was the opportunity to be in that sea of 200 passionate family members and advocates – psychologists and teachers and grandparents and the ASD people themselves. The IMFAR Community Conference was, for me, a chance to be around those who understood and cared about everything autism; it was an chance for me to be recharged and re-inspired to continue doing what I had set out on doing all along: to play my part in the ASD community.
The author is a guest blogger, Ashley Scott-Van Zeeland, Ph.D. and she is a Dickenson Fellow at the Scripps Translational Science Institute in La Jolla.
This was the second year IMFAR hosted an Invited Educational Symposium on Imaging Genetics in autism spectrum disorders. Dr. Susan Bookheimer, a leader in brain imaging and one of the pioneers of imaging genetics, and Dr. Daniel Geschwind a world-renowned autism geneticist, chaired the session. The goals of the symposium were to introduce the principles behind imaging genetics and demonstrate methods by which various researchers are using imaging genetics to discover relationships between genetics and brain function.
The first speaker was Dr. Susan Bookheimer, Professor of Cognitive Neurosciences from UCLA. Dr. Bookheimer gave a broad overview of the use of brain images as quantitative measures for use in imaging genetics investigations. Essentially, neural measurements such as activation or metabolic response, structural volumes, or connectivity measures can be thought of as being one step closer to the mechanism of gene action than broad diagnostic classifications. Therefore, these types of ‘endophenotypes’ are more strongly associated with gene variants and should considerably increase the ability to identify brain-gene relationships.
Dr. Daniel Geschwind, Chair of Human Genetics and Professor of Neurology at UCLA followed with a general primer on genetics to introduce all clinicians, brain imagers, and non-geneticists to the types of genetic assays available. The goal of Dr. Geschwind’s talk was to encourage non-geneticists to consider what is “reasonable” from a genetics perspective when designing studies. He highlighted three main frameworks for imaging genetics studies: 1) Identify genetic factors that underlie normal brain structural and/or functional variation 2) use differences in brain imaging measures to identify disease-associated genes, or 3) use brain imaging as a way understand the neurobiological effects and neural mechanisms of disease-associated genes. He also re-emphasized the issue of statistical power in the search for disease-associated genes, which depends on many factors but can be increased by using brain imaging that likely has larger detectable gene effects than broader phenotypes such as autism diagnosis. He also stressed that the best imaging genetic approaches are hypothesis driven, with known implicated brain regions or neural effects to limit statistical issues caused by testing many genetic markers over many brain regions.
After the introductory talks by Drs. Bookheimer and Geschwind, there were three more talks that went into greater detail about current applications of imaging genetic approaches in the study of autism – the first being by Dr. Joshua Trachtenberg, Assistant Professor of Neurobiology at UCLA. Dr. Trachtenberg presented methods for imaging dendritic growth in animal models. Using cutting edge 2-photon microscopy techniques, Dr. Trachtenberg is able to examine the neurobiological effects of candidate autism risk genes in a living animal. His lab has been working on the PTEN gene, which has been associated with an enlarged brain. In order to determine how PTEN contributes to an enlarged brain, Dr. Trachtenberg is able to selectively alter the PTEN gene in mouse brain after birth and monitor the changes in neural architecture over time. In the PTEN mutant animals, Dr. Trachtenberg observed up to 50% extra growth of dendrites – neuronal structures that receive input from other cells – suggesting a mechanism by which this autism-associated gene contributes to larger brain size. Importantly, he also presented evidence that the dendrites involved in long-range communication circuits are more affected than those involved in short-range circuits – a story that is emerging as a consistent finding across many measures of brain connectivity in autism.
Next, Dr. Declan Murphy, Professor of Psychiatry and Brain Maturation and the Head of Department of Forensic and Neurodevelopmental Science at Kings College in London presented an overview of the state of the field for serotonin genes and imaging genetics. Serotonin is a neurotransmitter involved in both brain function and brain development, and has been associated with behaviors such as aggression, affiliative behaviors, and obsessional behaviors. There are two major serotonin genes that have been the focus of imaging genetics studies – MAOA and 5-HTTLPR. MAOA is involved in the breakdown of serotonin and 5-HTTLPR encodes a protein that transports serotonin into neurons. Both genes have been associated with many neuropsychiatric disorders, including autism. Dr. Murphy presented studies in which activity in the amygdala and fusiform gyrus, regions thought to play a role in autism, was associated with different versions of 5-HTTLPR. However, he noted that although there is some evidence for serotonin dysfunction in autism, the evidence is not conclusive and imaging studies reflect this as well. In structural MRI studies, investigators have found frontal lobe abnormalities associated with the serotonin transporter, though this has not consistently been replicated. Within this talk, Dr. Murphy emphasized that it remains important to search beyond simple gene effects and consider systems-based approaches, developmental effects, gene-gene interactions and pharmacogenetic effects in imaging genetics studies.
I had the great pleasure of wrapping up the session by describing a general framework for pursuing targeted imaging genetics studies in autism, using a recent study that explored frontal lobe connectivity and an autism risk gene, CNTNAP2. As imaging genetics studies can be quite difficult, it is important to begin with well-devised experimental paradigms and testable hypotheses for gene effects. Since CNTNAP2 encodes a protein that is involved in cell-cell interactions and synaptic transmission, we reasoned that CNTNAP2 might be related to neural connectivity. As mentioned by Dr. Bookheimer in the introduction, it is important to use brain imaging as a quantitative measure of brain function or structure. To this end we chose to use a functional paradigm that we knew would elicit activity in regions where CNTNAP2 is expressed during development. We observed differences in frontal lobe activity in both typical children and those with autism depending on which CNTNAP2 allele they carried, and also found differences in connectivity patterns with the frontal lobe such that children who carried the autism-associated risk gene had more local frontal connections and reduced long-range connections. In sum, by leveraging information about the role of CNTNAP2 in the brain , we were able to better understand the mechanism by which CNTNAP2 contributes to increased risk for autism using an imaging genetics approach.
Overall, the application of imaging genetics to autism spectrum disorders is beginning to reveal very interesting neurobiology and I expect we will see more of these types of studies at IMFAR 2012!
Autism Speaks Science Board member John Elder Robison is the author of Look Me in the Eye: My Life with Asperger’s and Be Different: Adventured of a Free-Range Aspergian. You find out more about his IMFAR experience, here, here, and here.
To find out more about ‘Innovative Technology for Autism’ visit here.
This is a guest post by Peter Bell, the executive vice president for programs and services at Autism Speaks. He oversees the foundation’s government relations and family services activities and also serves as an advisor to the science division.
The International Meeting for Autism Research (IMFAR) celebrated its 10th anniversary this year. To commemorate this special occasion, the organizers returned to San Diego the site of the inaugural meeting in 2001. Although the city pretty much looks the same (one notable exception is the new Petco Park baseball stadium downtown), the landscape of IMFAR has undergone radical changes. While IMFAR is first and foremost a scientific meeting, the meeting has developed into a healthy blend of science and stakeholder perspectives.
The most notable difference between IMFAR 2001 and IMFAR 2011 is attendance. This year’s meeting attracted almost 2000 participants compared to just 250 when IMFAR began. The original meeting was a satellite to the very large Society for Neuroscience conference. Now IMFAR spawns its own satellite meetings. More than 1,100 research abstracts were presented this year over the course of three days. Ten years ago, there were fewer than 200 abstracts and the meeting lasted just a day and a half. Without question, the quality of research has undergone major transformation during the past decade.
The idea to create IMFAR was first conceived and supported by the stakeholder community. In fact, the first several years of IMFAR were organized by CAN and NAAR, which later merged with Autism Speaks, with strong support and guidance from the MIND Institute at UC Davis. Eventually, the International Society for Autism Research (INSAR) was formed to give autism scientists and students a membership organization to host the meeting and further develop the field. INSAR is now responsible for producing IMFAR each year while Autism Speaks and several other advocacy organizations continue to play a critical role and provide financial support in the form of sponsorships.
Two years ago, INSAR President David Amaral formed a Community Advisory Committee to ensure the stakeholder community is well represented and positively contributes to the success of the Society and its annual meeting. The Committee is chaired by Peter Bell from Autism Speaks (also a parent advocate) and co-chaired by self-advocate John Elder Robison, author of “Look Me in the Eye” and “Be Different”. Total membership includes six parent advocates, two self-advocates and one graduate student.
This year’s IMFAR meeting included many activities geared toward the stakeholder community. For the second consecutive year, one of the local academic institutions (University of California, San Diego) hosted an IMFAR Community Conference the day before IMFAR started. Over 300 attendees including parents, educators, therapists, clinicians and students attended this year’s event. One of the highlights of the conference was a panel of teens with autism who talked about their experiences living on the spectrum.
Once IMFAR opened on Thursday, the spotlight focused on several advocates who were honored at the Awards Reception. In addition to awarding Dr. Margaret Baumen from MassGeneral Hospital with the Lifetime Achievement Award, the INSAR board of directors created a new annual award called the INSAR Advocate Award for the important contributions that advocates make to research. Appropriately, the inaugural award was given to the founders of the organizations that started IMFAR ten years ago, Portia Iversen and Jonathan Shestack from Cure Autism Now (CAN) and Karen and Eric London from the National Alliance for Autism Research (NAAR).
The INSAR board also gave a Special Recognition Award (posthumously) to Bernard Rimland, PhD who is widely recognized for his discovery of the powerful evidence that autism is a biologic disorder and not due to poor parenting. Dr. Rimland later formed the National Society for Autistic Children, which is now known as the Autism Society of America, as well as the Autism Research Institute. This honor was especially fitting because San Diego was his home. His wife Gloria and son Mark were on hand to accept the award and enjoyed a standing ovation in memory of Dr. Rimland’s significant contributions to autism research.
A special surprise greeted those who attended the annual reception at the conclusion of day one. Under beautiful sunny skies on the rooftop deck of the Manchester Hyatt Hotel, IMFAR attendees were treated to a wonderfully entertaining performance by some of the stars from “Autism: The Musical”, the Emmy-winning HBO documentary. Not surprisingly, autism researchers know how to have a good time thanks to the musical talents and personalities presented by these teens.
On Friday, the annual Stakeholder Networking Luncheon, sponsored by Autism Speaks, was held to encourage greater interaction between the autism researchers and members of the stakeholder community. This year’s event attracted over 90 participants, up from about 60 the year prior. Most of the attendees were parents or grandparents, with about a dozen participants being autistic individuals and another dozen being siblings of a person with autism.
The luncheon included presentations by both scientists (INSAR President David Amaral from UC Davis, IMFAR Keynote Speaker Ricardo Dolmetsch from Stanford University and ATN Clinical Coordinating Center Director James Perrin from MassGeneral Hospital) as well as stakeholders (parent/researcher Sarah Logan from Medical University of South Carolina and autistic self-advocate/author John Elder Robison). Stay tuned for video highlights of the luncheon by Alex Plank and his crew from Wrong Planet.
During her brief remarks at the end of the luncheon, Sarah Logan, who is a PhD student at Medical University of South Carolina as well as the mother of a 14 year old boy with autism, referenced a quote from Albert Einstein: “A man should look for what is, and not for what he thinks should be.” She eloquently pointed out that as stakeholders, it’s natural (and easy) to become emotionally invested. Yet IMFAR presents science as science – with passionately curious individuals who can find harmony between the emotionally invested and the empirically driven.
Sarah further explained: “At the end of the day, one thing we all have in common is that we want a better quality of life for our loved ones living with autism. And that comes with knowledge. Knowledge is power. IMFAR is an amazing place to both gain, and share knowledge that will lead to improved quality of lives for all of those involved – parent, individuals, caregivers, families and siblings.”
David Mandell, Sc.D. conducted a study, ‘The Effect of Childhood Autism on Parental Employment,’ that was presented at the International Meeting for Autism Research (IMFAR) this year. ABC Los Angeles covered Mandell’s study and can be viewed in this clip.
David Mandell, Sc.D took time for an interview with Alex Plank to discuss IMFAR 2011, his study, and other autism related topics.
For more updates from the 2011 International Meeting for Autism Research visit here
By: Alycia Halladay, Ph.D., Director of Research, Environmental Health Sciences
As the average age at which early signs and symptoms of autism and diagnosis moves becomes younger and younger, methods for intervening at autism at the earliest possible ages are becoming more widely used. At this year’s IMFAR meeting, several clinicians and researchers addressed differences in design, methods, and identified challenges and potential solutions for delivering intervention from individuals with ASD as young at 10 months of age. Since this is when very early symptoms of ASD can be detected, but not yet diagnosed, many are considering this as a method of prevention rather than intervention. A feasible and cost-efficient way to provide interventions to infants and toddlers is to engage parents and train them to use behavioral techniques to improve development. What works for adolescents and adults does not apply to infants and toddlers. Instead of spending time working on specific tasks and skillsets, clinicians work with parents and provide ongoing support to engage children in social, communication and motor skills during playtime activities. But does this prevent ASD?
The simple answer is that it is very complicated. As reported in an earlier report, one size does not fit all. There may be a number of variables that affect outcome. In addition, last year, a report out of the UK last year reported that parent-mediated interventions did not result in a change in diagnostic status in young children. This same group showed new data at IMFAR this year showing that the intervention was effective in some ways – infants showed increased attention and gestures as well as improved shared interest. These early improvements are thought to lead to a higher level of functioning later on.
Children with ASD suffer from impoverished social interaction, and parents can be instrumental in providing stimuli to their children to change behavior. Most interventions now focus on encouraging parents to actively engage the child using evidence based strategies, in natural environments. Other types of interventions that were used included promoting behaviors and responsiveness in the context of everyday routines.
Given that published research don’t actually prevent ASD, but improve long-term outcomes, is the goal of early interventions to reduce the incidence of ASD? Alice Carter, member of the Autism Speaks Toddler Treatment Network noted that earlier screening and delivery of parent interventions which improve joint attention, and coordinated attention between parent and child – may prevent symptoms down the road, but may not always lead to a change in diagnosis. She stated “working with parents can make a huge difference in many children’s lives.”
Improved outcome measures which are more sensitive to improvements over time on a number of domains need to be developed to better describe these differences. In addition, working with a young child at home is difficult in any situation, and especially for families affected by ASD. Therefore, methods and techniques to maximize the amount of time parents deliver effective interventions are considered a priority. Autism Speaks is proud to sponsor this network in thinking about these important issues.
This is a guest blog post from Autism Speaks Science Board member John Elder Robison, author of Look Me in the Eye: My Life with Asperger’s and Be Different: Adventured of a Free-Range Aspergian.
There is a lot of talk about the need for therapies for adults with autism. A review of emerging adolescent therapies suggests that many can be applied to adults with minimal adaption. Testing/validating of what we have will be a lot less costly than developing something new.
More and more, scientists agree that autism is the result of genetic predisposition and a trigger. Many hoped the “trigger” was a simple chemical like mercury, but we are realizing there are both environmental and disease triggers. Unfortunately, knowing they are there does not make them any easier to find. Identifying pathways into autism for a large part of our population remains an elusive goal.
One of the things that pleased me most at this year’s IMFAR conference was the way that advocates and journalists are finally coming together and finding common ground. “As Thinking Person’s Guide to Autism” editor Shannon Rosa said, science doesn’t have a hidden agenda…
This year’s Autism Speaks “Autism Connects” technology competition drew over 130 technical and engineering students to develop tools to help people with communication disabilities. For me, the most important take-away was not the entries themselves but the realization that we have so much to gain by drawing technical people from other fields, like industrial design and computer science into autism research.
For some time we have known that that therapies like ABA teach behaviors, not feelings. For example, we (autistic people) can learn to read a face and realize, “he’s happy,” but that logical knowledge does not often translate to us experiencing the feeling. At this year’s IMFAR Susan Bookheimer of UCLA spent quite a bit of time showing me what imaging studies are teaching us about how we may soon help autistic people feel that happy message and thereby feel happy themselves. That will represent a quantum leap in the power and effectiveness of therapy.
I’ve heard comments about “the rolling walk of autistic people” before. This year I saw results of a study from the University of Fairfield that actually quantified differences in gaits between autistic and NT people. Why do we walk in a sawtooth pattern where NT people walk in a straight line? The researcher had some ideas, but why remains a mystery.
For years people have looked at nonverbal people (autistic or otherwise) and wondered… what’s going inside their brains? If a person can’t talk, they can’t take a conventional IQ test, and rightly or wrongly, many have been presumed intellectually disabled for lack of evidence to the contrary. Today, researchers are using both high precision EEG and fMRI imaging to measure brain patterns in response to stimuli. For example, when a person sees a cat and hears the word cat there is one characteristic pattern of activity. When the person sees a cat and hears dog, the mismatch causes a different activation. We can measure those responses, even in people who don’t talk, and thereby gain insight into how much they are perceiving and thinking, and how fast. Understanding is the precursor to therapy.
This year many scientists who have family members on the spectrum proudly wore stakeholder ribbons on their name tags. At the stakeholder lunch, we discussed the balance between funding community services and funding science. Without science, all we have to care for the disabled is faith and compassion. The addition of science-based medicine is what’s taken us from life in the Middle Ages to where we are today. Science provides the foundation to make community and family services work better. That’s why we need it.
When I spoke at the luncheon yesterday, I reminded people that we are all sitting here in safety, but in the middle of our country, one hundred million pounds of water are flowing past Red River Landing on the Mississippi River every single second, and the rate is rising still. That flood could cause the loss of the Old River Control Structure, which is what keeps the Mississippi from changing course and flowing to the Gulf at Morgan City instead of New Orleans. If that happens as a result of this historic flood (already greater than any we’ve seen in 80 years) our country could be facing the worst natural disaster in its history.
If you’re a praying person, now is the time to pray for all those people in the Mississippi floodplain. As much as I believe in science and engineering, if I had to lay money on the Army Corp of Engineers or Nature, I’d have to choose nature.
Why Nature? In the world of autism, the brain nature has given us provides the most complex puzzle man has ever attempted to solve. Out on the river, this flood shows once again how all our science and technology sometimes fades to insignificance before the natural world. Yet we go forward with faith that science will bring us the solutions we need, both on the river and in our heads.
On a personal note, I was pleased to see grad students and researchers whose work I have supported through my participation in review boards bringing the fruits of their work to IMFAR. It made me feel like I had a small part in the collective success of our group, and that feels good.
I was also thrilled to see that Alex Plank (a young man with Asperger’s) was filming the conference and he’ll be sharing it soon on the Autism Speaks and Wrong Planet websites, and elsewhere.
In closing I’d like to thank all the friends I’ve made in this community, and also the folks at INSAR and Autism Speaks, who made it possible for me to attend this conference. I’ll see you next year in Toronto!
By Leanne Chukoskie, Autism Speaks
In 2008, Autism Speaks kick-started research in the area of non-verbal autism through its High-Risk High-Impact initiative. This year at IMFAR, Autism Speaks-funded research was featured in the Invited Educational Symposium titled Characterizing Cognition in Non-verbal Individuals with Autism: Innovation, Assessment and Treatment.
Geraldine Dawson, Ph.D., Autism Speaks’ Chief Science Officer, chaired the session and set the stage for the audience to appreciate the importance of this particular topic. An estimated 30% of individuals living with autism are functionally non-verbal, yet very little research effort was directed toward helping this group communicate their wants and needs. The inability to communicate leads caregivers and clinicians to the presumption that the cognitive skills in these individuals were low because the tests typically used to assess cognitive skill require verbal or behavioral responses that this group of individuals does not readily produce.
The first speaker was April Benasich, Ph.D. of Rutgers University, who received an Autism Speaks grant for her research. Dr. Benasich presented data on innovative new studies on 3-7 year old non-verbal children with autism. Using tasks that were designed to assess children’s capacity to identify mismatches between sights and sounds. For example, a picture of a frog might be presented with the spoken word “frog” or “cow.” The latter, obviously incorrect, pairing generates a spark of electrical activity in the brain called a mismatch negativity about 400 ms after the stimulus was presented. This sort of task can also be used to probe contextual understanding in non-verbal children by pairing, for example, the frog with “green” or “pink.” Even greater complexity can be tested by presenting sentences with errors in syntax. When heard by children who understand language, these syntax errors generate the same kind of brain potential.
Dr. Benasich and her colleagues developed a training protocol to get the children comfortable with the application and wearing of the EEG net as well as exposing them to all of the concepts presented in the experiment. The results revealed some similarities and some differences in the processing of sensory stimuli in the non-verbal children and this is not unexpected as they continue analyzing these data and also new data on older non-verbal children.
However the real power of using EEG techniques for assessing cognitive capacity is that it can tell us for an individual what we cannot get from standardized cognitive tests. Dr. Benasich presented results from individuals, some of whom were picking up the mismatches in the pictures and sounds, or sentence errors and some of whom did not.
This was the launching point for the next presentation from John Connolly, Ph.D., of Mc Master University. Dr. Connolly typically studies individuals who suffered traumatic brain injury and must be assessed to appropriately design rehabilitative therapy. He and his colleagues adapted a standard test for word comprehension called the Peabody Picture Vocabulary test (PPVT) into a tool that can be used by measuring brainwaves – no oral or manual response required. A grant from Autism Speaks allowed him to adapt his methods to work with non-verbal individuals with autism. By learning exactly what these non-responsive adolescents can and cannot understand, one can more appropriately design therapies to help them move to the next stage of learning.
Nicole Gage, Ph.D. of UC Irvine relayed her studies of both speech and sound processing in minimally-verbal children with autism using a different brain measurement tool called magnetoencephalography or MEG. One advantage of MEG for children is that nothing actually touches the child during the measurement. Although they must lie very still, there is no noise and the device resembles a fancy salon hair dryer. Using this technology, Dr. Gage and her colleagues are finding differences in very early in brain processing responses to tones and mature early in human development. These responses occur at the level of the auditory brainstem and may be at least partially responsible for the atypically responses measured to both tone and speech sounds observed by both Dr. Gage and other researchers at the later stages of brain processing in auditory cortex.
Lastly, but perhaps most importantly, Connie Kasari, Ph.D., of UCLA and the organizer of this special session presented her Autism Speaks-funded treatment research specially tailored for non-verbal children between the ages of 5 and 10 years old. Dr. Kasari uses structured play-based methods to build a scaffold and provide context for encouraging communication in these children. Her randomized controlled trial design encompasses treatment sites at UCLA, Vanderbilt, and Kennedy Krieger and involves the play based therapy especially designed for these children and also a treatment arm that includes an alternative and augmentative communication device. Dr. Kasari showed data from the group thus far – after three months of the six-month treatment trial. Not only are some individual children making incredible strides toward initiating functional communication, but overall 75% of the children in the study are responding to the therapy. Interestingly, looking back at the detailed assessments taken on the participating children upon their entry into the study no particular features distinguished the responders from the non-responders thus far.
These studies break new ground in reaching those with autism who cannot speak. However, the next steps will almost certainly be the most exciting. As more researchers and clinicians learn about these studies and are able to take advantage of the results presented, we will be better able to understand and assist individuals who are now non-verbal. These sentiments were perhaps captured best in the enthusiastic response the speakers received from the loved ones of those affected.
Geraldine Dawson, Ph.D. became Autism Speaks’ first chief science officer in January of 2008. In this role, Dr. Dawson serves as the scientific leader of Autism Speaks, working with the scientific community, stakeholders, and science staff, to shape, expand, and communicate the foundation’s scientific vision and strategy. Dr. Dawson presented the Autism Speaks strategic plan on the second day of IMFAR. She also took the time to be interviewed by Wrong Planet’s Alex Plank.
This is a guest blog post from Autism Speaks Science Board member John Elder Robison, author of Look Me in the Eye: My Life with Asperger’s and Be Different: Adventured of a Free-Range Aspergian.
Yesterday I listened to a very interesting talk from Catherine Lord, Ph.D., one of the creators of the ADOS test. ADOS is the “gold standard” in the world of autism diagnosis, and she’s a leading figure in the world of autism testing and evaluation, so I jumped at the chance to hear her thoughts on where we’re headed in that regard.
People who receive an autism diagnosis are told they have one of three conditions: Autism, Asperger’s, or PDD-NOS. The big question is: who should be diagnosed with what? Is there a coherent sense of classification, or is it merely arbitrary or random? She reviewed the diagnostic data for several thousand spectrumites in an effort to determine what caused a person to end up in one of those three categories.
To her surprise, after analyzing the data, she found the principal predictive factor had nothing to do with the individual. Looking at records from a number of good university hospitals, she found places who called almost everyone Asperger, and other places where everyone was PDD-NOS. There was no discernible pattern of variation between individuals; they seemed to simply get different diagnoses in different places.
Was there more to the story?
To answer that, she looked at other factors, like IQ. For example, many people call Asperger’s “autism lite” or “high IQ autism.” Her review of Asperger diagnoses at one Ivy League school bore that out, with their Asperger kids having average IQ of 123. However, other doctors must see Asperger’s differently, because a Midwest clinic in the study has an average Asperger IQ of 85.
She looked at quality of language in older kids and found similar ambiguity. In the final analysis she did not find any consistent measures of the individuals themselves that led to one label or the other being applied.
In my opinion, those findings support the argument that there is no consistent standard that sets the three descriptive terms for autisms apart. A difference at one point becomes invisible at another. For example, you could say four-year-old Mike does not talk so he’s autistic and Jimmy talks up a storm so he’s Aspergers. But what happens when both kids are 10 and they look and sound the same? Were the differences justified? What purpose might they serve by their difference?
Her findings made one more strong argument for combining all autism diagnoses under the heading of autism spectrum disorder, with a described range of disability or affect.
That’s the way things seem to be headed for the next DSM.
At the same time, Dr. Lord expressed concern that many people have a strong personal investment in one diagnostic name or the other, and they should be able to keep using the different terms.
Stay tuned for more tomorrow from IMFAR 2011.