This month has been a tremendously exciting time in autism research, as our blog posts make clear. Naively, I’ve been waiting for a pause in the torrent of news to introduce myself. That’s not looking likely, so allow me to shoehorn a quick intro—and a couple questions for you.
Three weeks ago, I stepped into the newly created position of Autism Speaks’ director of science communications. It’s now my privilege to suds and squeegee your window onto the science that donor dollars are funding. I’ll also be enlisting our science staff to answer your questions and generally provide perspective on some of the splashy—and sometimes confusing—headlines in the national news.
By background, I’m a science journalist and medical writer. For the last 20 years, I’ve been a regular contributor to national magazines such as Discover, Popular Science, Parents, Parenting, and Prevention. I’ve also written a few science books for the general reader, the most recent being Good Germs, Bad Germs.
The science staff at Autism Speaks has always been passionate about communicating with families affected by autism and with everyone who cares about enhancing the lives of the remarkable individuals on the spectrum. I’m here to facilitate their conversation with you—in both directions.
Perhaps you’re a volunteer and want resources that can help you explain the nature and importance of the research we fund. Perhaps you have a child affected by autism and would consider participating in research. Perhaps you are a parent who is looking forward to answers and new treatment approaches that will help your child. Or perhaps you are a high-functioning teenager, college student, or other adult on the spectrum and want to know more about studies that relate to you (the link goes to just one example).
In whatever way you’re comfortable, we want to involve you in our scientific mission: To improve the lives of all who struggle with autism. To that end, I’d love your input on some of the new avenues of communication we’re considering. Would you please take a moment to answer our two-question survey? Please feel free to provide additional feedback in the comments section. Thanks!
Fifty years ago, researchers discovered elevated levels of serotonin in the blood of children with autism. What would it mean to our understanding of autism if serotonin—a highly active neurochemical—was also increased in the brain?
In 1961, Schain and Freedman reported that about 40% of autistic children are born with high circulating blood levels of serotonin. This finding has been repeated many times by other researchers. What are the implications? Despite around 600 published research papers looking at autism and serotonin, we’re not really sure. But we’re getting closer to providing answers thanks to crucial help from Autism Speaks.
In the young, developing brain, serotonin stimulates the growth of neurons, or nerve cells. So it follows logically that if serotonin levels are increased in the brains of autistic children, then their brains should be larger. In fact, macrocephaly (big heads) in young children with autism is common. Not only are the brains larger, but certain sensory responses appear earlier in children with autism.
But these findings raise new questions: What do serotonin-producing neurons look like in the brains of children with autism? Would the size and number of serotonin-producing neurons suggest that these cells function earlier in children with autism than in children whose brains develop typically?
The best way to answer such questions is to examine brains of individuals with autism after death. Autism Speaks supports the Autism Tissue Program (ATP), which provides researchers such as myself with access to a the precious resource of brains from autism donors (whose identities are always kept confidential). For instance, ATP records have already confirmed that the brain weights of donors between the ages of 3 and 18 years who had autism are significantly heavier the brains of donors without autism.
To examine the details of serotonin-producing neurons, I and my colleagues prepare and stain slices of brain tissue to reveal the presence of proteins that distinguish serotonin neurons. This procedure allow us to follow how the branches, or axons, of these cells reach out and connect with neighboring cells. Such studies have shown a stark increase in the number of serotonin axons in the brains of children with autism, with these changes appearing in the youngest brains studied (age 3 years) and peaking at around 18 year so of age. Analyses of axon size and branching pattern confirm this increase in an area of the brain associated with auditory sensation and language—the superior temporal cortex. It is hypothesized that the earlier maturation of cortical neurons in this primary auditory area may hinder their incorporation into complex circuits underlying speech.
Of particular interest, my lab has found increased serotonin neuron connections that, on first impression, seem inconsistent with observations widely reported in the scientific literature. Let’s examine them:
First, imaging studies show a decreased rate of serotonin creation and use in the brains of children with autism following administration of tryptophan, a chemical that the body needs to make serotonin. Second, many of the behaviors associated with autism suggest a decrease in serotonin activity. In fact, doctors typically treat hyperactivity, repetitive behavior, and insomnia in adults with drugs that increase serotonin. Paradoxically, recent clinical studies show that drugs that increase serotonin (e.g., selective serotonin re-uptake inhibitors) actually worsen symptoms in children with autism.
The observation that serotonin axons are increased in the brains of people with autism may provide answers to these inconsistencies. Much work needs to done, and the availability of valuable postmortem tissue should be used to its greatest advantage to study not only serotonin neurons, but also other types of brain cells that can affect neurological development. Using the precious resource of donated brain tissue, scientists are able to perform the detailed analyses necessary to see which cells have problems, when and where those problems begin, and what mechanisms may be involved.
Autism Speaks’ Autism Tissue Program supports specialized neuropathology research by providing approved scientists access to the most rare and necessary of resources, post mortem human brain tissue. We wish to recognize the commitment and generosity by our ATP donor families. More information can be found at http://www.autismtissueprogram.org or call 877-333-0999 for information or to initiate a brain donation.
2. Azmitia EC, Singh JS, Whitaker-Azmitia PM. (2011) Increased serotonin axons (immunoreactive to 5-HT transporter) in postmortem brains from young autism donors. Neuropharmacology. 2011 Jun;60(7-8):1347-54.
As head of clinical programs at Autism Speaks, I oversee a number of vital resources for researchers studying the causes and treatment of autism. Today brought the publication of a new and revealing study made possible by Autism Speaks’ Autism Genetic Resource Exchange (AGRE).
Autism researchers have been studying twins for years for insights into the genetic and nongenetic factors that influence the development of autism. One of the most powerful ways to do so is to study twins (both identical and non-identical) where at least one of the pair has autism. This approach allows us to look at how often both twins receive a diagnosis of autism. Study of identical twins, who share 100 percent of their genes, then helps us determine the degree to which autism is inherited, or genetic; and comparison to fraternal twins, who share around 50 percent of their DNA, allows us to understand how environmental influences add to the risk of autism spectrum disorder (ASD).
But until now we’ve had only three, small twin studies, which together looked at just 66 twin pairs–a number too small to produce reliable conclusions. Still, these studies were the best we had, and theysuggested that when one identical twin develops an ASD, the chance of the other twin developing the disorder is as high as 90 percent. These same studies showed little to no overlap among fraternal twins – leading to the conclusion that inherited genes alone produced the risk.
Now comes the game changer. The California Autism Twins Study (CATS) is the largest ever study of twins with ASD, with scientifically reliable information on 192 twin pairs, both identical and fraternal. It was conducted by a group of renowned researchers in collaboration with the AGRE team. AGRE clinical staff collected DNA and helped perform the home-based diagnostic and cognitive testing on many of the participants, using scientifically validated research measures for diagnosing ASD.
So what were its dramatic findings?
It found that when one identical twin develops autism, the chance of the other twin developing the disorder is 70 percent. More surprisingly, it documented a whopping 35 percent overlap among fraternal twins. This is strong evidence that environmental influences are at play. Moreover, the 35 percent “both twins affected” rate is higher than the 3 percent to 14 percent overlap between different age siblings. (i.e. If one child in a family has autism, there is a 3 percent to 14 percent chance that a younger sibling will develop it.) This suggests that there are environmental influences uniquely shared by twins–for instance, in the womb and perhaps during birth.
In other words, we now have strong evidence that, on top of genetic heritability, a shared prenatal environment may have a greater than previously realized role in the development of autism in twins
This has important implications for future research. For instance, is there a particular time period during the pregnancy when a child’s brain development is particularly vulnerable to environmental influences? And what might these influences be? Already we have evidence implicating such factors as advanced parental age, maternal nutrition, maternal infections (especially flu) during pregnancy, and premature and/or underweight birth. Indeed, multiple-birth pregnancies are themselves associated with increased risk of developmental disorders such as cerebral palsy and autism.
Only by further studying these issues can we begin to provide parents and parents-to-be with the reliable guidance they seek and need. Autism Speaks is currently investing in several studies that are exploring how environmental factors increase the risk for ASD. As we go forward in these endeavors, we greatly value your input. So please write and share your comments on our blog and website. For more on the study, read The Womb as Environment.
On July 5th, NBC Nightly News came to Andy Shih, Autism Speaks’ vice president of scientific affairs, for perspective on the game-changing California Autism Twins study. To view the clip please visit here.
More national television media coverage of the ground-breaking results of the California Autism Twin study–research made possible by the Autism Speaks Autism Genetic Resource Exchange (AGRE) and Autism Speaks’ supporters such as you.
by Chief Science Officer of Autism Speaks, Geraldine Dawson, Ph.D.
I often get the question: How is the research we are funding on single gene disorders, such as Fragile X, relevant to the larger population of individuals with ASD? My answer is that, although autism has many different causes – including single gene mutations, multiple genetic factors, and even environmental factors – it is likely that these causes affect common underlying biological pathways. By studying the “simpler” single gene disorders, especially by studying animal models of these disorders, we can discover these pathways and develop medications that hopefully can help restore the functioning of these pathways.
As you will see in the press release, this strategy is being implemented by Seaside Therapeutics. With the help of funding from Autism Speaks and NIH, Mark Bear and other scientists developed an animal model for Fragile X and discovered that glutamate, an excitatory neurotransmitter, is affected by the Fragile X mutation. An overabundance of glutamate is interfering with the ability of neurons to communicate with each other (synaptic functioning). SeasideTherapeutics then tested a medicine, STX209 (arbaclofen), which helps to restore normal synaptic functioning, in a clinical trial with people with Fragile X. They found encouraging results! The next step, which was launched yesterday, is to test the efficacy of STX209 in individuals with ASD. The hope is that this medicine will improve social behavior and reduce irritability (e.g. aggression, tantrums) in people with ASD.
In the press release Randall L. Carpenter, M.D., President and Chief Executive Officer of Seaside Therapeutics says, “In our open-label Phase 2a study of STX209, we observed significant improvements in social impairment—a core symptom of autism spectrum disorders—including symptoms such as preference to be alone, being withdrawn or isolated, and lack of social reactivity. We are spearheading late-stage development of a drug candidate that has the potential to change the treatment paradigm for autism spectrum disorders—addressing core symptoms—and are truly excited about the prospect of helping patients and their families achieve an improved quality of life.”
Arbaclofen acts by stimulating the release of GABA in the brain. To make an simplified analogy, if we think of glutamate as the accelerator pedal in brain, then GABA is the brake pedal. By reducing glutamate through stimulating GABA receptors, the first clinical trial with people who have Fragile X syndrome demonstrated positive effects on behavior.
In Phase 2b of the trial, 25 sites will conduct a randomized, placebo-controlled trial of arbaclofen, enrolling 150 people with ASD for a total duration of treatment of 12 weeks. For more information about the clinical trial visit www.clinicaltrials.gov .
We will be sure to keep you informed as this study and other translational research progresses!
This is by Staff blogger Rick Kolan, Program Officer with the Autism Treatment Network at Autism Speaks.
Organizations strive to please those they serve, often saying that “the customer is always right.” Striving to meet, and if possible, exceed customers’ expectations is a common business goal. To adequately meet these needs, businesses frequently solicit customer feedback on their products and services in the hope of improving performance.
As Autism Speaks’ Autism Treatment Network (ATN) sees its fourth year, we have taken that concept to the next level. We have engaged families at each of our ATN sites to constitute a Family Advisory Committee. Their role? To provide their perspective and that of their children concerning the care and service they receive at our ATN centers. We have also asked them to help map our direction into the future, providing us ongoing advice on the issues that are important to them now and as their children progress.
Since the beginning of the year ATN sites have been selecting parent representatives and alternates willing and available to attend local ATN site meetings, conference calls and the periodic national meetings of ATN leadership and clinicians. The aim is for the committee to help guide ATN policy and planning at the national level while partnering with their local ATN clinicians to enhance care and services at the individual site.
During the week of June 8-10 the Family Advisory Committee (FAC) met in Washington DC to take part in an ATN/AIR-P Steering Committee Meeting. The event marked both the kick-off of the ATN/AIR-P Quality Improvement Collaborative and the inaugural meeting of the FAC.
FAC members met for the first time on Wednesday morning. As representatives introduced themselves around the conference table, it was clear that each brings a unique array of skills and experience. Yet in spite of differences in their backgrounds they immediately found common ground. Each member has a sincere desire to improve care for people with autism, from age toddler to adult, in the belief that the ATN’s commitment to family-centered care is more than simply words.
Even at this initial meeting the FAC provided an important perspective as certain themes repeatedly emerged in the course of open discussion:
- Aging and ASD
- What will happen to my child as he/she gets older? There is plenty of support while they are young, but parents are commonly at a loss as their children get older.
- Continuity of care across the spectrum, as well as across age groups, is needed.
- Transitions – to adolescence and to adulthood—are especially difficult.
- Families need guidance in advising employers on how to support workers on the spectrum.
- Affect on family
- Autism is a family diagnosis.
- Autism affects where families choose to live.
- Transfer of information and knowledge
- Much of the information families get or give is by word-of-mouth
- Messages must be delivered in a way so that parents really understand what certain tests and screenings can and cannot do.
- How do we get information to families that are not directly part our network (families in the “dark spots”)?
- How do we make sure that needed information is available at the primary care and the well-child levels, so that clinicians and families know what to do if the child starts to change?
- The culture at the various resources, including doctors, needs to change; just because a tool kit is out there it doesn’t mean the doctor will use it.
- Care for the whole-person
- Care is fragmented with different sectors dealing with different aspects of a child’s needs: schools, PCP, speech, early intervention.
- Schools as well as doctors need to see the child as a whole being.
- Schools and doctors need to collaborate on the child’s care. It doesn’t work if the doctor says the child should have certain accommodations or support and the school doesn’t work to make that happen.
- A key Challenge
- What can we do when we develop effective therapies or other solutions but families cannot afford them and insurers won’t pay for them?
This first FAC meeting demonstrated the group’s potential for generating practical ideas that will keep the ATN focused on the family as we move forward.
A new report was released yesterday in the journal Pediatrics that questions the value of uniform early screening for autism spectrum disorders. The premise behind the report titled, “Early Autism Detection: Are We Ready for Routine Screening?” was a desire to evaluate the usefulness of universal screening for infants at 18 to 24 months of age given what is known about the quality of screening tools, the availability of effective treatments, and other considerations.
The authors argue that there have not been enough quality studies comparing screening tools. The availability of effective treatments for those who screened positive is also far from wide or uniform causing the authors to question the value of screening overall.
Autism Speaks remains in support of American Academy of Pediatrics recommendation that all infants be screened for autism spectrum disorders.
The sense of urgency of our mission to create a world in which suffering because of autism no longer exists demands identification and intervention as early as possible, where we do, in fact, have data for the effectiveness for intervention. Dr. Geraldine Dawson, chief science officer of Autism Speaks says, “Early intervention has been shown to result in significant increases in cognitive and language abilities and adaptive behavior, allowing children the best chance for a positive outcome.
Instead of closing the door to an opportunity to guide the development of an infant who is headed toward struggles with an atypical development, we must create new opportunities for those infants to thrive. Indeed, the path to obtaining effective treatments that target the unique needs of your child is still shadowy, but it is something to which are bringing light together. Autism Speaks supports research on effective early screening methods as well as finding best ways to deliver interventions that were shown to be effective to all those who need them today.
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