Last Thursday evening, I attended a talk at Boston University with Dr. Geri Dawson, Chief Science Officer for Autism Speaks. What follows is the letter that I felt compelled to write to her after hearing her speak.
Ed note: I have written before about Autism Speaks and why I have stuck with them through some difficult times. If you’re interested, please click –> HERE <– to read a post that I believe pretty well sums up my position.
I need to share his words with you. I need you to know how much this matters. To our precious children, of course, above all. But also to US – to their mothers and fathers, their siblings, their grandparents, their aunts, their uncles, their cousins, and, if they’re lucky enough to have them, their friends.
Quicksand And A Rope from Luau’s blog, Run Luau Run
**I am running – pounding the treadmill.
My demeanor is calm, almost stoic, but I am sinking.
Sweat is dripping out of every single pore of my body. I am drenched. The display of the treadmill is spattered.
I’m waiting…waiting for the endorphins to kick in; waiting for the wave of “feel good” to wash over me and wash away the troubles of the day, the 1000 paper cuts that are threatening to bleed me out. I wait, and when I feel like I’ve waited long enough, I double-down and pick up the pace. The sweat continues to pour out of me, now like a leaky bucket losing water.
My breathing becomes labored and yet, I am still calm, stone-faced and waiting.
When the endorphins finally kick in, it is almost anti-climactic.
Yes, I feel good.
Yes, there is some release of tension.
But there is an underlying sense of dread, of sadness, of disappointment, of loneliness.
Something is not right. There is still a weight upon my chest, my shoulders, pressing down. The immediate world around me is no longer bending to my will. The destiny of me and my family no longer seems to be in my hands.
I think about Brooke’s future a lot. I know that any parent thinks about their child(ren)’s future, but when you have a child with special needs, like Brooke has, those concerns get multiplied. What roadblocks will autism throw up against her as an adult? as a teenager? as a tween? next week? It doesn’t seem to stop. A few weeks ago we had a scare that Brooke might be suffering from brain seizures (nearly 1/4 of kids on the autism spectrum will at some point suffer a seizure of some sort). She had been rolling her eyes into her head sometimes at a terrifying rate of 10 – 15 times per minute. In the end, after an EEG and an evaluation, it was determined that she was not suffering from seizures, but rather a motor tic associated with autism.
Not that I would have wanted it to be a brain seizure, but I thought, “Great, just one more thing that is going to make it difficult for her. Great!” Fortunately the eye rolling has subsided immensely. I now see her do it maybe 10 times in a day as opposed to 10 times in a minute.
That, along with a few other factors related to Brooke, have taken their toll I think. My sleep has suffered. My running has suffered. My motivation to do ANYTHING has suffered. I have been sinking slowly in a quicksand that has threatened to swallow me up.
But then last night I was thrown a rope.
Jess and I went to listen to a talk given my Autism Speaks Chief Science Officer Geri Dawson. She spoke on the state of science and research in the field of autism – where we were, where we are and where we just might be going in the not-so-distant future. Jess is much better at conveying events, so I will leave it to her to elaborate on the talk, but I will tell you this – we were sitting with Mrs. SGM, a military wife/mother of a little one with autism. At the end of the talk, Mrs. SGM went up to Dr. Dawson and told her that this was the first time she had been to something like this where she walked away with a sense of hope – a true sense of hope.
That is exactly how I felt.
It took those words for me to realize that my “hope” had been waning over the past few months. It was more of a general deterioration of my hope for the future. As the economy continues to struggle and town budgets get tighter, administrators eye more and more the funds spent on a child like Brooke. Long-term views are replaced by short-sighted ones. It’s happening everywhere and our community is no exception. So my hope for Brooke had taken a beating.
Until last night.
What she said will not impact the budget issues each town faces, but as I listened to Dr. Dawson speak, I was lifted by the possibility that big breakthroughs are right around the corner – that there may be a time, relatively soon, when Brooke’s autism won’t demand so much attention, so much manpower. My hope for a truly independent adult Brooke was reborn.
And with that, a certain amount of weight was lifted off of my chest. This morning I woke up just after 4AM and went for my run (10 miles, putting me over 1,000 miles for 2011!). There was the usual dragging my butt out of the comforts of my bed, but there wasn’t the sense of defeat and dread that has accompanied the moment of consciousness this past month or so.
Did Dr. Dawson’s talk resolve the issues we are currently dealing with now? No. Not even a little. BUT, as I look out over the horizon of time, I can see the storm clouds starting to break. The skies aren’t quite as dark or threatening and I think I see some sunshine coming through.
Thank you Dr. Dawson and Autism Speaks for inadvertently throwing me a rope and bringing back the sun.
Little darling, the smiles returning to the facesLittle darling, it seems like years since it’s been hereHere comes the sun, here comes the sunand I say it’s all right
As we learn more about the unique behaviors of different animal species and how circuits in the brain control those behaviors, we will come upon more options for treating brain-based disorders. In the case of autism spectrum disorders, a surprising potential treatment for social challenges emerged from the little-known prairie vole. The new research was published in April online in Biological Psychiatry and supported by Autism Speaks.
Prairie voles may resemble pet store hamsters, but their ordinary appearance obscures unique behavior. These voles are among the 5% of all mammals that are monogamous—that is they form a mating pair that remains for the life of the animal. Contrast this seemingly virtuous performance with a similar species—the meadow vole—that engages a much more promiscuous mating strategy. For each animal, the chosen mating strategy makes sense in terms of available mating partners and other environmental pressures. However, these mating strategies also produce consequences in terms of the animal’s “social skills” and the neural circuits which serve these behaviors.
Prairie vole females, who mate for life, are relatively picky. So, when introduced to a new male, not surprisingly, female prairie voles tend to a be careful—wanting more than just a single visit before choosing her mate. This situation affords researchers an opportunity that Larry Young, Ph.D. at Emory University exploits in the partner preference task.
The partner preference task enabled researchers to dissect the social learning that occurs in voles soon after meeting. A female prairie vole is paired with a male for up to 24 hours so they can meet, but not mate. During this time, researchers can give the voles different drug compounds to manipulate this first date in various ways. From the sensory cues, to the rewarding squirts of neurotransmitter, Dr. Young and his colleagues are learning the essential ingredients for effective social learning.
The first essential ingredient is oxytocin. This well-studied hormone is involved in birth and lactation and has more recently been shown to enhance the much more subtle social perception of trust in humans. Oxytocin administration has also been shown to increase the amount of gaze to the eye region of a face in individuals with autism.
Pair bonding in the prairie vole requires oxytocin. The brain regions that bind this hormone are closely associated with areas of the brain that signal reward and the “reward neurotransmitter”, dopamine. In fact, if the brain binding sites for dopamine are blocked by a competing chemical, pair bonds between prairie voles do not form. This result reveals that the reward system must actively participate for these strong social bonds to form.
Recall the very similar-looking but very differently behaving vole called the meadow vole. What creates their very different patterns of social engagement in these two species? Dr. Young and colleagues showed that the distribution of receptors for the hormone oxytocin was a primary difference between the two species of animals. In fact, female meadow voles that were made to express oxytocin receptors in a prairie vole pattern began behaving just like prairie voles with regard to mating behavior. The promiscuous voles became monogamous by changing the expression of receptors in the brain.
This background would seem to be an elaborate set up to discuss the drug that makes the difference, but the value that these animals bring to research can not be underestimated. The overt differences in behavior led to the discovery of hidden differences in brain physiology, which can be manipulated using drugs to improve the lives of humans.
Using a compound called d-cycloserine (DCS) the research team was able to enhance the cognitive processes involved in developing a partner preference in prairie voles. The changes are likely due to two factors: 1) an enhancement of the sensory cues that accompany a social interaction, which are primarily smell-based for rodents. 2) a boost of the memory of the social interaction, so that the partner will be recognized and associated with a positive encounter when they next meet. The dose of DCS matters as only a low dose—one that increases glutamate neurotransmission—elicits a bias for choosing the previously met partner over the stranger. Higher doses of DCS have a different effect on the receptor causing an overall reduction in glutamate transmission and providing no bias in the partner preference task.
What is the relevance of this to autism? Imagine if one were able to enhance the interest of social stimuli prior to a therapy session. Could the sort of compounds Dr. Young and his colleagues are investigating be beneficial when used in addition to behavioral therapy for helping individuals on the spectrum focus develop healthy patterns of social engagement? In an preliminary study published in 2004 by a different group of researchers, DCS decreased social withdrawal in individuals with ASD as measured by the Aberrant Behavior Checklist. Dr. Young and colleagues continue their research with DCS and other compounds that improve the salience of social features of an environment. We look forward to seeing more of these results translate into meaningful treatments for people as this research direction progresses.
This post is by Guest Blogger Rebecca Schmidt, Ph.D., Assistant Professor, Department of Public Health Sciences, UC Davis and first author on the research described below.
UC Davis researchers conducted a study comparing children with autism to children without autism, all aged 24-60 months, to see whether their mothers differed in terms of taking prenatal vitamin supplements before and during pregnancy. Combined effects of maternal vitamin intake and genotypes affecting a key metabolic pathway known as one-carbon metabolism were also examined.
In this retrospective study, mothers of children with autism were significantly less likely than those of typically developing children to report having taken prenatal vitamins during the three months before and the first month of pregnancy. Prenatal supplement use was similar across the other months of pregnancy. Maternal education and the child’s birth year were accounted for; however, because the mothers were asked about their vitamin use years after their pregnancy, and after their child’s developmental status was known, recall bias could have influenced the results.
The researchers postulate that folic acid, the synthetic form of folate or vitamin B9, and the other B vitamins in prenatal supplements, are probably protecting against deficits in early fetal brain development. Folate is known to be critical for proper neurodevelopment and studies have found that supplemental folic acid has the potential to prevent up to 70 percent of neural tube defects.
Interaction effects were also observed between periconceptional prenatal vitamin intake and maternal and child genotypes. When a mother did not report taking prenatal vitamins and she or her child had genotypes associated with less efficient folate-dependent one-carbon metabolism, the child was at much greater risk for autism. These findings demonstrate gene/environment interactions in autism.
Maternal genes involved in significant interaction effects included the well-studied methylenetetrahydrofolate reductase (MTHFR) folate metabolism gene and vitamin B6-dependent cystathionine-beta-synthase (CBS), which is an enzyme involved in metabolizing protein building-blocks that contain sulfur. The child’s catechol-O-methyltransferase (COMT) gene was associated with more than seven times the risk for autism when in combination with no maternal periconceptional prenatal vitamin intake, compared to children with other genotypes whose mothers did report periconceptional prenatal vitamin intake. The COMT enzyme, responsible for the degradation of the neurotransmitter dopamine and well-known for its association with schizophrenia, is active during early neurodevelopment. Structural and functional brain differences have been described across COMT genotypes, particularly in the hippocampus and prefrontal cortex, regions previously shown to be affected in individuals with autism.
These findings are the first to suggest a concrete step women can take that may reduce the risk of having a child with autism. Future research is warranted to replicate these findings and enhance understanding of potential mechanisms.
Autism is a very heterogeneous disorder. As the grand lady of neurology, Dr. Isabelle Rapin liked to emphasize when training new students “If you have seen one child with autism, you have seen one child with autism.” This heterogeneity has made understanding causes and designing effective treatments more challenging than it would be otherwise.
However, a new study published this week in Nature and supported by Autism Speaks’ Autism Tissue Program and Autism Genome Project reveals that the heterogeneity may not be as problematic as it initially seems. Differences in common molecular pathways appear to underlie the pathology in the brains of individuals with ASD.
Daniel Geschwind, M.D., Ph.D. (UCLA) launched an ambitious study to examine not just the variants of genes that may confer risk for autism, but the interaction with those genes and proteins working to support brain function. Looking for patterns of interaction in the brain, Dr. Geschwind and his colleagues sought to characterize the transcriptome – the set of fragments of instructions, called RNA, read from the gene DNA on the path to making functional proteins. Importantly, unlike the gene DNA that is relatively fixed for an individual’s life, the RNA transcriptome is modified through experience and interaction with the environment.
The authors analyzed patterns of expression of RNA for three areas of the post-mortem brain tissue from individuals with ASD or typically-developing individuals. Two areas of the late-developing cerebral cortex (prefrontal cortex and the superior temporal gyrus) and a region of the cerbellum known as the vermis were compared between the autism and typically developed brain tissue. The first big surprise was that although the cortex transcriptome revealed over 400 different genes with different expression between the autism and typical brain tissue samples, the similar comparison in the cerebellar transcriptome revealed exactly two differently expressed genes. Whatever differences exist in the brains of individuals with autism, these differences are greatest in the instructions that guide the structure and function of the cerebral cortex.
This, however, was just the beginning of what the research team found. Imagine the cerebral cortex of brain is like a bustling metropolis – one part of the city develops into a residential area and the other becomes a business district. Both neighborhoods have very distinctive features that make them unique due in part to the time and manner in which they developed and the people who inhabit them. So too for different regions of the typically-developing cerebral cortex. Different regions of the cortex develop at different times and with different inputs from the environment. The prefrontal cortex is one of the late-developing regions in the infant brain. Different regions also serve different functions, like integrating information from sight, sound and touch in the case of the superior temporal gyrus, and higher cognitive functions in the prefrontal cortex.
Importantly for Dr. Geschwind and his colleagues, these two cortical regions also have their own unique pattern of expression in brains from typically developed individuals. However, when looking for these unique signatures, the research team instead found surprisingly similar patterns of gene expression across the two regions in the brains of people with autism. Referring back to the metropolis analogy, in the autism brain samples, the residential and business districts are more alike than they ought to be.
There were also differences in expression of two gene networks between the autism and control brain samples. The first network of genes encodes synaptic function. This is reassuring because most of the autism risk genes identified through previous studies focused on synaptic function. The second network of differential gene expression was related to immune function and inflammation. This too harkens back to previous studies showing inflammation and immune system activation in the brains of individuals with autism. This gene network does not correlate with the results of large gene association studies like the synaptic network, indicating that secondary or environmental effects are involved in stimulating the observed inflammatory markers.
“This is the first study to show differences in the patterns of gene expression between brain regions, said Rob Ring, Ph.D., Autism Speaks vice president for translational research. “It’s those patterns of gene expression that enable the brain to function normally and to communicate properly with other regions of the brain.”
Taken together, these results have quite an impact on how we understand autism. The similarity of gene expression across different regions of cerebral cortex in the brains of individuals with autism tells us that we should look closely at very early brain development as these patterns in cerebral cortex emerge. The same goes for the network of synaptic genes that are differentially regulated in individuals with autism. However, the differences observed in immune and inflammation gene networks are more likely to be related to secondary or environmental effects. We must follow all the leads this research has provided if we are to make the next steps in developing supportive treatments and therapies for those living with autism spectrum disorders today.
Daniel Lightfoot, Ph.D., Director of the Autism Tissue Program
Ricardo Dolmetsch, Ph.D. has a vision for autism research. Using pluripotent stem cell (iPSC) technology to create rare stem cells from other “common” cells of the human body cells, Dolmetsch and his lab at Stanford study neurodevelopmental disorders such as autism.
Unlike embryonic stem cells or adult stem cells which are isolated from existing and often difficult to obtain tissues, iPSC’s are “created” from easy to obtain and plentiful sources, such as skin or hair samples. This is accomplished through a unique process where cells are developmentally regressed to an earlier state.
To appreciate the concept of a stem cell, consider a seed. As a single cell it holds the potential to grow into an adult plant. It is a “stem cell” – one that can change or develop into any cell of the plant, from a leaf cell, to a flower cell or into a root cell. Through iPSC technology, this process is reversed. Scientists can developmentally regress an adult cell into an earlier cell like a seed. In short, scientists can turn a piece of a leaf into a seed, which could then grow into any cell of the plant. Though this does not at all imply that science can create a whole person from a skin sample, it does, however, allow researchers to easily create a variety of cells that can then be used for scientific study.
Once stem cells are created, they can be induced to develop into brain cells. For the first time, scientists are directly studying living brain cells in the lab. How these cells grow, interact, communicate, organize into groups and what helps or impairs these cells’ growth is now being more effectively studied. Additionally, stem cells have the unique ability to replicate without changing, meaning that from a single skin or hair sample many cells can be created. This allows a near limitless source of resources for scientific inquiry.
Dolmetsch shared this vision at a keynote presentation at IMFAR. He and his colleagues have now created an entire repository of stem cells from individuals with neurodevelopmental disorders. By comparing autism brain cells, with Timothy Syndrome and other disorders, the research team is not only learning about the differences among these conditions, but also the commonalities. Once the brain cell is created, it is possible to experiment with different compounds to determine whether they can restore neuronal function. Thus, stem cells provide a platform for drug screening. A deeper understanding of these disorders will also contribute more generally to a fundamental appreciation of how the human brain works.
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.
In honor of Autism Awareness month, the National Institutes of Health in conjunction with the Department of Health and Human Services held an hour-long lecture and live videocast with two seasoned autism researchers. The talk series was titled “Advances in Treatment Research” and addressed the current state of treatment research in autism including promising new areas and the barriers to getting to effective treatments faster.
Susan Swedo, M.D., a board-certified pediatrician and the Chief of the Pediatrics & Developmental Neuropsychiatry Branch at the National Institute of Mental Health (NIMH), spoke about empirically-supported treatment options in autism, including behavioral and medical treatments. She noted that methods of behavioral intervention have been the most studied. A recent review published in Pediatrics highlighted the positive effects demonstrated in randomized controlled trials of early intervention, including the UCLA Lovass model and the Early Start Denver model of early intervention.
For medical interventions aimed at addressing core symptoms of ASD, such as social and communication impairments, the challenge of evaluating treatments has been greater. Objectively measuring improvements in social and communication is challenging because these impairments differ widely across individuals with ASD. For example, for some the difficulty may be establishing eye contact whereas for others it might be learning how to carry on a conversation. Thus, defining what makes a treatment successful has been surprisingly elusive. For medical conditions where someone became acutely ill, a return to that individual’s former health status would be considered a success. However, autism spectrum disorders are developmental in nature, and difficulties in meeting milestones and acquiring new information about the world tend to compound. For these reasons, it is not clear what the “baseline” is or could be for each individual and that makes the definition of success less clear-cut. This is an even greater concern when considering the costs of treatment, including monetary and potential side effects. For an intervention with a high probability of unpleasant side effects, the likelihood of substantial gain in function must be greater than for an intervention with little risk of negative effects.
Secondly, there appears to be a surprisingly strong placebo effect in autism studies. For some individuals, the psychological effect of receiving “treatment”—even if it is not an active substance– is beneficial in some way. For this reason, small and uncontrolled trials of interventions can be misleading. Large, randomized, controlled trials are considered to be the gold standard method for evaluating effective treatments. Another challenge is that, given that ASD is not one condition but a group of different conditions, what will work for one person may not work for another. When individuals are studied in groups, such as in clinical trials, it might obscure the positive effects of a treatment for a small subgroup of people with ASD.
Dr. Swedo offered the historical example of secretin as a case-in-point. Secretin is a hormone that was claimed to be a successful treatment for autism in many “open label” (ie. uncontrolled) trials. The hormone was both very expensive and difficult to administer. When placebo-controlled trials were completed, it was clear that there weren’t beneficial effect of the drug, but valuable treatment time and dollars were spent on something ineffective in the interim.
Dr. Swedo collaborates with Autism Speaks’ Autism Treatment Network, a group of 17 hospitals offering a comprehensive model of medical care for children on the spectrum. The well-organized network of sites offers an excellent platform for studies of medical effectiveness where the children’s medical needs are well-attended and followed over time.
Dr. Swedo’s talk ended by discussing some new data from her research group at NIMH showing that the sleep EEG patterns of children with autism are different in a surprising way. Young children with autism in her study spend much less time in rapid eye movement (REM) sleep and much greater time in slow wave sleep instead. This is an interesting finding because REM sleep has been hypothesized as important for consolidating memories made during waking hours. Dr. Swedo’s group is currently engaged in the beginning phases of a study using a low dose of Aricept, a drug indicated for dementia associated with Alzheimer’s disease that has the side effect of increasing REM sleep. Autism Speaks is currently funding a study that is examining the relationship between REM sleep and other aspects of sleep and memory in children with ASD. We look forward to hearing the results as they emerge.
Rebecca Landa, Ph.D., CCC-SLP, is an Associate Professor of Psychiatry and Johns Hopkins School of Medicine and Director of the Center for Autism and Related Disorders and of the REACH research program at the Kennedy Krieger Institute. Dr. Landa explores the early signs and interventions for autism during the infant-toddler period.
Dr. Landa views early intervention as “an investment of a lifetime”, because it is during this early time that children set expectations and learn what they are capable of, and the dynamic of the parent-child relationship is established. Her objective in all interventions is to “thwart the spiraling effects” of developmental disorders by improving functioning as quickly as possible.
“I like to think of intervention experience as nourishment for the brain”, says Dr. Landa. New experiences help young children learn how to functionally interact with the world. As young children, the sensory and motor abilities are primary and help set up more complex cognitive and social skills. A good example is in the ‘sticky mittens’ Dr. Amy Needham uses to help young infants learn to grasp. With the special mittens, the young infants had success at a motor skill that they could not previously perform, and this provided a scaffold for building other behaviors. Dr. Landa’s interventions are influenced by the perspective that the mind develops in a manner compelled by the physical abilities and actions of the body.
Dr. Landa also described a randomized controlled behavioral intervention for 16 month old children who have autism or were at high risk for developing autism. Some of the children were randomized into an intensive parent education class to help the parents have more effective interactions with their infants. Other children were enrolled in a full experimental treatment group, involving a classroom-based gathering of one year olds and their parents twice a week. In the experimental group parents learn to observe and implement strategies for engaging their children socially, with toys, and in adaptive routines that help parents generalize to the home through weekly home visits. The children in the experimental group made substantial improvements in their gaze behavior, spending more time engaged in the sort of joint attention interactions that precede more complex social interactions. Meeting these early milestones offer the scaffold for the development of later and more complex social and communicative behaviors.
In addition to their prepared talks, both investigators answered questions from the live audience. The videocast will be archived and available for viewing in the next few days.
The Science Webinar and Podcast Series is a new service from Autism Speaks to help keep our community informed about the latest in autism research. Each month we will feature a leading expert to share with us the exciting progress being made and what it means for individuals and families affected by autism. Our goal is to help our community better understand all the new and exciting science being supported by Autism Speaks and other funders. We plan to be comprehensive in our coverage, including everything from genetics and environmental sciences to medical care and clinical trials. Occasionally, we will also feature special topics, like awareness and family support, that while not part of the Autism Speaks science program, are informed by our research and development efforts.
We are very pleased that our inaugural episode of the Autism Speaks Science Webinar and Podcast Series features Autism Speaks’ Chief Science Officer, Dr. Geri Dawson. Dr. Dawson will share with us two new exciting science initiatives at Autism Speaks aimed to deliver better medical care and develop novel treatments for our community.
Please find the webinar video below this post, or you may access the audio-only podcast here:
By Geri Dawson, Ph.D., Chief Science Officer, Autism Speaks, and Research Professor of Psychiatry at UNC Chapel Hill.
One out of 110 school-age children in the US is diagnosed with an autism spectrum disorder (ASD). Given these numbers, it is likely that you know someone who is affected by autism. Please join me and thousands of others around the world in shining a bright blue light on autism by wearing blue on April 1st and 2nd. This is one way you can show your support and increase awareness of autism.
People with ASD have difficulties in social interaction and communication and tend to have restricted interests and repetitive behaviors. Autism is not one condition; rather, it is many conditions with many different causes, which include both genetic and environmental risk factors. When autism is identified at an early age and appropriate early intervention is provided, children with autism can make substantial gains and learn to communicate and interact socially. With appropriate intervention, many children with autism are able to attend a regular classroom, learn to speak, and develop friendships. ASD affects each person differently. Some individuals are highly verbal and experience mostly social challenges, while others are nonverbal and unable to live independently. Some people are affected by medical conditions such as seizures or sleep disorders. Although most people think about autism as a condition affecting children, the challenges are typically life-long. A half-million adolescents with ASD will be entering adulthood over the next few years.
New research on the biology of autism is pointing toward novel treatments, including medications that could help address the core symptoms of ASD. Each year, Autism Speaks provides $25-30 million in research funding to discover autism’s causes and effective interventions (www.autismspeaks.org). In fact, several scientists at the University of North Carolina are currently conducting Autism Speaks-funded research on topics ranging from infant screening to animal models to clinical trials that are assessing new behavioral and medical treatments. This research offers hope for the many families struggling with autism in all of its forms.
The diversity of the presentation of ASD is just a part of the awareness we hope to raise this year on World Autism Awareness Day by shining a light on autism. We want more people to appreciate the lives of those living with autism, both in terms of the daily challenges and the celebrations of special abilities and milestones achieved.
Saturday, April 2nd is World Autism Awareness Day, dedicated in 2007 by the United Nations to raise awareness about autism throughout society and to encourage early diagnosis and early intervention. On Friday April 1st and Saturday April 2nd, we will light the world up blue to raise awareness and show support. Landmark buildings, hospitals and schools around the world will change their lighting to blue. Please join us at work and at your home by wearing blue, changing your porch light and hanging a sign to show your support. For more information on how you can light it up blue, please go to www.lightitupblue.org.
On Saturday, March 5th, over 100 researchers, scientists, NY state advocates, professionals, service providers and parents gathered in NYC for a public policy roundtable on the challenges of enhancing early intervention services for toddlers with ASD. It is estimated that over 1300 children between 18 and 30 months living in NYC will be diagnosed with ASD, however, it’s likely that not all of them are receiving the services they need. When it is delivered, early intervention can lead to improvements in outcome (http://www.pbs.org/pov/bye/)
What then, are the barriers? In some cases, pediatricians may not be implementing screening tools to find toddlers with ASD. Also, parents don’t know what to do even if they are told that their child has screened positive. Interventions themselves may be inaccessible or nonexistent. How then can scientists who are developing and determining effectiveness of interventions work with pediatricians and service providers in their communities? How can state agencies and advocacy organizations help their efforts? What needs to be done to build upon or improve existing systems?
First, CAPACITY should be built to train specialists working with the children in both medical and non-medical settings to identify those with ASD early on. This includes working with nurses, day care and child care providers, and family members to learn to identify early signs of ASD. Its important when identifying and referring individuals with ASD to early intervention is to be mindful of CULTURE. In the ethnically diverse New York City, there are neighborhoods that speak dozens of languages. Instead of screening tools used in doctors offices, there is a need for alternative, observational tools that can be used in a variety of settings. Screening should be implemented in a family friendly way, and speakers and participants provided examples of ways they have been working with pediatricians and other professionals to make the most of a very short 18 month well child visit.
Once children are identified, service providers unanimously agreed that there should be CONSISTENCY and COORDINATION across teams of service providers, parents, and clinicians. At the core, better COMMUNICATION is needed. Communication always sounds like a good solution, but more specifically, communication with the parent in helping families find the help they need was highlighted as a need. Also, those who are working with the child on an intervention should have the opportunity to communicate with each other to develop the most effective and feasible treatment plan.
Parents with children with ASD also need COACHING to use time at home to deliver interventions. The internet is a valuable tool for helping parents promote the same skills that clinicians are using, and can do so in a variety of settings. This improves behavior in different CONTEXTS. Gary Mesibov, from UNC stated “rather than simply looking at efficacy, which is the scientific evaluation of whether a treatment works, psychologists should be examining the generality of effects across patients, therapists, culture, settings and especially the feasibility of delivering the treatments in real world settings”. Of importance, early intervention services should be CUSTOMIZED. The challenge is finding the right service or intervention for the right family at the right time in the right setting. Different children will respond to different therapies. What are the right ingredients to an effective intervention?
What does this all come down to? COST. Health economist Michael Ganz presented some theoretical models which showed that while initial cost of early intervention service would be high, the long term savings in cost of therapy over a lifetime, decrease in special education services and increase in lifetime earnings would make this initial investment worthwhile from a financial perspective as well. Currently, service eligibility and reimbursement is based on a diagnosis. If they were based on a risk of diagnosis from very early markers, the outcomes of children at risk for a number of disorders could be very different.
Those were the challenges. How about the solutions? Autism Speaks is CONTRIBUTING on a number of levels:
- Randomized control research on the efficacy on different early interventions which all use a parent-mediated component (http://www.autismspeaks.org/science/research/initiatives/toddler_treatment_network.php)
- Advocacy for insurance coverage of screening, diagnosis, treatments as well as support for future federal and state funding (www.autismvotes.com)
- Fostering training in different communities, including low-resource countries, to improve the availability of services both within and outside the United States (http://www.autismspeaks.org/science/research/initiatives/gaph.php)
- Resources and tools such as the Autism Video Glossary that help parents and professionals learn more about autism’s early signs and diagnostic features and the 100 Day Kit that assist families in getting the critical information they need in the first 100 days after a child’s is diagnosed with autism.
What else is needed? Let us know what you think – while we may not be able to answer every comment we do read them and appreciate your thoughts. More information on the roundtable can be found here: http://www.hunter.cuny.edu/autismroundtable/home