Simple conversation often provides our organization with valuable insight into the lives of our families, their triumphs, struggles, issues impacting their lives and helps us understand how to better serve the autism community’s needs. That’s why we took the conversation one step forward and conducted Autism Speaks’ very first online “Community Survey.” Designed as a “conversation starter,” the survey explored why their community is, or is not, a good place to live if you have autism. We asked if they were happy with the availability of services in their community, and specifically explored access to medical and clinical care including diagnosis, therapeutic services, educational services in public and private schools, inclusive or adaptive recreation and respite for families and caregivers.
We wanted to hear from all corners of the country, from people with autism, their parents, siblings, clinicians, therapists and anyone else with perspective on this issue — and the response could not have been better. Almost 1500 people engaged in the survey which was open for a three week period and more than 800 members of the autism community in the 48 contiguous states and the District of Columbia completed the survey. Thanks to everyone’s input, we came away with a wealth of opinions, personal experiences and information that has allowed us to identify the best communities to live in if you have autism. More importantly we heard what characteristics are valued by our families that make a community livable. We encourage everyone take a look at the rankings, which were just announced today, and see if your community made the list. We also want to know your thoughts on the issues presented in the survey to keep this vital conversation moving forward and in the public spotlight. To view the results of the Autism Speaks Community Survey, please click here.
Autism is a complex disorder. Answers will be found by taking multi-disciplinary approaches. A broad vision of autism spectrum disorder (ASD) considers how the brain develops and affects cognition, what treatments work for core symptoms, and how ASD changes over the lifespan. However, opportunities for scientists to appreciate the broad vision and diversity of approaches are unfortunately few.
This year a special 2-day conference on autism was held prior to the annual Society for Neuroscience meeting in San Diego, giving scientists an opportunity to focus on ASD and share ideas. The conference, called The Emerging Neuroscience of Autism Spectrum Disorders: Etiologic Insights; Treatment Opportunities, offered an overview of current autism research from many of the world’s leading autism researchers.
There were two strong themes in the meeting. The first was that autism research has historically studied different groups of children at specific time points. This kind of study is known as cross-sectional research. There has been comparatively little research on how children change over time, known as longitudinal research. Given that ASD is a developmental disorder which changes over the lifespan, more longitudinal research is needed. The second theme highlighted what we can learn from the incredible diversity of symptom and subtypes of ASD. Future ASD research demands a greater focus on individual differences instead of the common comparisons between averages derived from groups of individuals with ASD and typically-developed individuals.
The first session of the meeting included a review of what is known about autism risk genes. Steve Scherer, M.D. (University of Toronto) described how small variations in the number of copies of a piece of genetic code (copy number variations, CNVs) can be risk factors for ASD. These CNVs may be inherited or occur for the first time in the individual with ASD (de novo). Similar CNVs have also been identified in ADHD, schizophrenia and bipolar disorder, suggesting that there may be some common pathways underlying related developmental and psychiatric disorders. The incredible advances in genetic research, in no small part from Dr. Scherer and the Autism Genome Project, enable scientists to explore how these genetic variations affect brain development in animal models and provide clues into the underlying biology of ASD.
Declan Murphy, M.D. (Institute of Psychiatry, UK) impressed the audience with his proposal that brain imaging could be used to assist future clinicians in the diagnosis of ASD. The high costs of diagnosing individuals with ASD in Dr. Murphy’s South London community clinic motivated him to explore new methods. He used statistical methods combined with functional brain imaging to identify brain networks that may be different in adults with ASD. The use of brain scans may one day make the diagnosing ASD cheaper, quicker and potentially more accurate.
Cognition and new treatments
Day 2 of the meeting shifted focus away from biology to cognitive development and the evaluation of behavioral interventions. Tony Charman, Ph.D., (Institute of Education, London) described his study of cognitive strengths and weaknesses in a large sample of children with ASD. He argued for the importance of understanding the unique pattern of cognitive skills found in ASD to guide neuroimaging research and developing assessments of skills for early intervention programs. Dr. Charman also identified challenges in this area of research, noting that the field must address issues, such as small sample sizes and reliance on group comparisons if we are to progress.
Cathy Lord, Ph.D., (University of Michigan) showed longitudinal data collected using the Autism Diagnostic Observation Schedule (ADOS)—a tool to identify and quantify features of ASD. Her data revealed individual differences in the development of particular skills, such as eye contact, and joint attention skills, even though overall ADOS scores remain mostly constant. Language IQ remains an important predictor of children’s expected progress. Perhaps in the future, the ADOS diagnostic tool can also be used to monitor the long-term benefits of interventions.
The final two sessions focused on interventions. Fred Frankel, Ph.D. (UCLA) presented data from new interventions in friendship training. Judith Reaven, Ph.D., (University of Colorado School of Medicine) showed her data on cognitive behavioral therapy for anxiety in ASD. Aubyn Stahmer, Ph.D., (Rady Children’s Hospital, San Diego) evaluated the use of an integrated intervention model in community settings. Sally Rogers, Ph.D. (MIND Institute) concluded this session with a summary of the challenges in developing good outcome measures for intervention studies.
The last session summarized the evidence behind pharmacological treatments for ASD. One of the real challenges for behavioral pharmacologists is how to identify drug treatments for core social and communication skills. Currently only two drugs are approved for treating irritability in ASD. Several other drug treatments have been tested in clinical trials with minimal or no evidence for their effectiveness. Individual differences and variation in symptoms over time make finding treatments for the core symptoms of ASD like trying to hit a moving target.
Putting it all together
David Amaral, Ph.D. of the MIND Institute and current president of the International Society for Autism Research, summarized the meeting by focusing on autism research ‘Promises and Pitfalls’. On the positive side, he noted a dramatic rise in research, supported by increases in public and private funding, such as the major contribution by Autism Speaks. As for pitfalls, Dr. Amaral underscored the significant variability among individuals with autism that must be recognized if research results are to be meaningful. He also encouraged the continuation of brain research across the lifespan acknowledging age-related changes in brain development and behavior over time.
Progress in the field of brain research will require an on-going partnership among people with autism, families and researchers. We are both optimistic about progress and impatient to find answers. We all look forward to IMFAR 2011 in May when autism researchers return to San Diego with a broader perspective and new insights.
At the International Fragile X conference held in Michigan last week, researchers working in partnership with Seaside Therapeutics presented promising results from a Phase II clinical trial with compound STX209. The research was presented by Elizabeth Berry-Kravis, MD, PhD, (Rush University Medical Center in Chicago, Illinois) and Randi Hagerman, MD, (M.I.N.D. Institute).
The study followed 63 patients with Fragile X from three groups spanning 6 to 40 years of age. The aim of the study was to investigate the safety and efficacy of STX209 across a broad range of individuals with Fragile X. The research team specifically looked at behavioral and cognitive measures that might indicate benefit from the drug. Indeed, they found statistically significant improvements in sociability in a pediatric group who had scored low on scales of sociability prior to the treatment. This result is particularly important because impairments in social function are a core feature of Fragile X, and also a core feature of autism spectrum disorders (ASD).
In a press release from Seaside Therapeutics, Dr. Hagerman offered a perspective on the results her team has observed. “A majority of the patients enrolled in the STX209 study are participating in the ongoing open-label extension study and are continuing to benefit from treatment with STX209,” said Dr. Hagerman. “Physicians and parents are reporting increased sociability and communication and decreased outbursts and tantrums. In several cases, patients have been successfully withdrawn from other medications, including mood stabilizers, anti-depressants and, most importantly, anti-psychotics—a significant benefit for patients given the severe side effects associated with this particular class of drug. It is my hope that, with further study, STX209 may be able to play a much needed role in improving the symptoms of fragile X syndrome and help patients and their families achieve an improved quality of life.”
These results are exciting for individuals and the families of those living with Fragile X. However, perhaps the greater excitement lies in what may come next. Fragile X is the most frequently observed genetic syndrome in individuals with ASD. Synaptic over-excitability has been observed in animal models of autism and is believed to be a common neurobiological underpinning. Seaside Therapeutics is currently exploring the potential for benefit in individuals with ASD through a clinical trial of STX209 in adults, adolescents and children with ASD. We anxiously wait for further data on the use of this compound.
Autism Speaks’ Chief Science Officer, Dr. Geri Dawson, will appear on the radio show “Radio in Vivo” on Wednesday, July 14, 2010 from 11:00 a.m. – 12:00 p.m. EDT/8:00 a.m. – 9:00 p.m. PDT. To listen, go to http://wcomfm.org and click the link to the streaming signal on the home page.
The show will cover a wide range of topics including autism prevalence, genetic and environmental factors, new directions in research and treatment, and Geri’s areas of specific expertise – early detection and early intervention. The purpose of the program is to provide information and education.
We look forward to hearing your thoughts about the program!
UPDATE (7.19.10): The show is now online. You can access it at http://radioinvivo.net – click on the Schedule/Program Archive link, scroll all the way to the bottom of that page, and you’ll see the link to the podcast, as well as links to Autism Speaks, the AGP, and the PBS webinar.
This is a guest post by Judith Ursitti. Judith is Regional Director of State Advocacy Relations at Autism Speaks and has been involved in advocacy since her son Jack’s autism diagnosis almost five years ago.
By now Jack and I had grown accustomed to the routine.
You hear of an excellent doctor. You absolutely must get in to see them. You call to make an appointment. Wait for months and months and months. Finally get there. Sit in the lobby, clipboard on your lap, writing down medical history and group i.d.’s.
Jack screams for a few moments as you wait. People stare. We follow the nurse to the back. Answer questions. Show said doctor that you are a pro at shouldering the reality of it all.
Chin up. Head home.
Not quite two years ago, Jack and I had another one of what I thought would be one of those appointments. One filled with all the can’ts and doesn’ts..
But this was our first visit to an Autism Treatment Network (ATN) site.
I picked Jack up early from school that day and we made the appointment on time. We sat in the lobby of the LADDERS Clinic with the clipboard. Jack screamed for a few minutes and then bounced up on down on the chair by the window.
And then the nurse led us back.
And we met Dr. Margaret Bauman.
And Dr. B was enamored.. “This guy is different!” she declared.
She drilled me with questions, which I answered rather typically I thought. But Jack’s behavior set the tone. He loved Dr. B. He flirted with Dr. B.
We spent well over hour with Dr. B. She didn’t just focus on his deficits. True, he was nonverbal. True, he wasn’t pointing yet.
“His social referencing… it’s beautiful!” she declared.
She prodded him patiently from head to toe. Took notes. Contemplated what might be going on with him. Why he wasn’t talking to us. Why his autism remained so severe.
And then she gave me a plan. (I’ve learned since then, that’s what they do at an ATN site. They don’t just think about the brain. They think about the whole body.)
Dr. B. ordered blood work for the routine genetic testing. But Dr. B also wanted to make sure Jack wasn’t having G.I. issues, so she referred us to the ATN gastroenterologist. Allergies can really be an issue for kids with ASD, so she referred us to their allergist. We discussed sensory issues. Since he was nonverbal, we talked about different types of augmentative communication devices. She talked to me about Jack’s occasional sleep issues and we devised a plan to address them.
I must confess that at that very moment, as we worked on Jack’s treatment plan, I allowed it to creep in. That provocative, luxurious sensation called
I’ve always felt so connected to Jack. Engaged. Sometimes it’s hard to for others to see, but there is a sparkle there.
Normally when Jack is being evaluated or examined, we only hear words like “challenged” or “severe.”
But Dr. B didn’t use those words. To the contrary, she recognized the sparkle right away.
As I pushed the glass door open and we walked out into the parking lot, a fistful of lab-slips in-hand, I felt a new spring in my step.
Careful, I thought to myself … Remember, the Dr. B really doesn’t have any answers.
I elected to savor the moment.
Jack smiled and jumped into a puddle, giggling as we headed to the car.
Two years later, I’m happy to report that Jack remains a patient at LADDERS. He started talking to us about six months ago. His favorite phrase at the moment: “No way…”
The ATN (an initiative of Autism Speaks) is the nation’s first network of hospitals and physicians dedicated to developing a model of comprehensive medical care for children and adolescents with autism. The ATN offers families care from doctors highly experienced in helping individuals with autism and providing treatment for associated conditions such as gastrointestinal and sleep disorders. ATN doctors are dedicated to finding better ways to manage the health of children with autism and sharing their increasing knowledge across the wider medical community. In particular, the ATN is dedicated to developing better ways to identify, manage and treat the physical health conditions of children with autism. And as treatments for these conditions become better defined and recognized, it is the aim of the ATN to see insurers routinely recognize the autism diagnosis and cover physical health treatment.
What follows is an interview with Jason Katims, writer and executive producer of the NBC hit series “Parenthood.” “Parenthood“ airs on Tuesdays at 10 p.m.