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Monday, April 1st, 2013
In 1980, the rate of autism was typically quoted as 4 in 10,000. The most recent rate reported is 1 in 50. While it is difficult to get a precise estimate, it’s abundantly clear that rates of autism have increased dramatically since 1980 – and in fact over the last decade. So what has changed?
There are a number of factors that have brought the startling levels of autism to our attention. These include:
Better Awareness: In 1980, autism was first introduced as a separate diagnostic category in the third addition of the Diagnostic and Statistical Manual of Mental Disorders (DSM). Prior to that time, clinicians using the DSM applied other categories such as childhood schizophrenia. Since 1980, there has been extraordinary growth in awareness – both for professionals and parents alike. This is particularly so over the past decade. Advocacy groups have done an admirable job of helping us understand what autism is (and isn’t). Pediatricians now screen for early warning signs – as do parents. These actions have all led to a much greater awareness of the symptoms of autism which undoubtedly translates in more proper diagnoses being made. In addition, the increased awareness has permitted older kids to be diagnosed more properly when the signs earlier in life were not recognized as autism.
Expansion Of The Symptoms: In parallel with efforts to increase awareness, diagnostic changes that recognized autism as a spectrum – now referred to as Autism Spectrum Disorder (ASD) – helped capture the wide range of symptoms that go beyond “classic” autism. Including a much broader representation of social, communicative, and repetitive/stereotyped behaviors certainly helped recognize the disorder in many youth who would not have been diagnosed in past years. Of course, there is debate about how the changes in the upcoming DSM-5 may result in a reduction in the rate of diagnosed ASD in the future. But up until now, recognizing the variation in symptoms that can characterize ASD has certainly been a factor in understanding how common autism really is.
Changes In Etiological Factors: Less understood is the role of new causative factors that increase risk for ASD. Much attention is being given to a large number of potential environmental contributors. There is the suggestion that specific genetic mutations that may be linked to autism – and associated with paternal age – are more common in the population because of average increases in paternal age over the last few decades. Much of this work, though, is work in progress, as it is believed that ASD typically results from the combination of a number of environmental and genetic risk factors. But many researchers operate under the assumption that there are both environmental and genetic risk factors that may be increasing in the population, though they remain elusive.
So, since 1980, what we have learned? We know now that autism is very common, is best thought of as a spectrum that includes substantial variation in how symptoms are expressed, and may be influenced by increasing levels of risk factors that are not well understood at this time. For all these reasons, it is critical that we keep researching the causes of autism, and continue to promote awareness of the early signs and symptoms in order to support early diagnosis and intervention.
Image: Autism Awareness Ribbon via Shutterstock
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Sunday, December 30th, 2012
There were three big themes this year in autism research from my vantage point:
The ongoing debate and speculation about the diagnostic changes that have now taken hold in the upcoming DSM-5 was clearly the biggest story of the year. Proponents suggest that the change to a singular diagnostic category (which eliminates Asperger’s Disorder
as a separable diagnosis) will provide clearer criteria and hence more precision. Those who disagree worry that some youth will no longer receive diagnoses – and hence access to services. Another concern is that even if children meet diagnostic criteria, the new severity ratings may prove troublesome when it comes time to receiving coverage for services. The only thing for certain is that it will take some time until we see enough data – and feedback from clinicians and parents – to know how this will all play out.
Causes of Autism
: There were a number of studies which demonstrated the complexity of searching for the causes of autism. Genetic research continued to focus on rare mutations that may help explain a very small number of cases. Included here were studies suggesting potential links between paternal age and risk for spontaneous mutations. While these findings continue to appear in the journals, it is not clear if there are many other genes involved – and if a vast majority of cases of autism are due to many genes acting in combination with environmental effects. To that end, environmental studies pointed to prenatal influences, including use of antidepressants and exposure to the flu
virus. The studies to date are preliminary, require replication and expansion in terms of isolating mechanisms, and again account for small increases in absolute risk (typically a magnitude of 1%). Overall, the pieces of the puzzle continue to be researched, but the puzzle remains elusive.
Early Intervention: While it is known that early intervention yields positive changes in development, new studies suggest that intensive intervention that is especially tailored to promoting reactivity to the social environment may hold considerable promise. One study showing changes in brain activity in response to faces after such intervention (the Early Start Denver Model) was particularly intriguing. While autism remains a mystery, the one thing we know is that early intervention is beneficial – and we can hope that it will become even more powerful in the future.
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Friday, November 30th, 2012
Autism is a biological disorder. That said, recent research continues to reinforce the power of behavioral interventions – and a recent study may be pointing the way to a small breakthrough.
In October, Dr. Geraldine Dawson and colleagues published a paper showing exciting results from a relatively new intervention called the Early Start Denver Model (ESDM). Previous studies demonstrated that the ESDM leads to improvements in a number of developmental domains – including reduction of symptoms, and increases in social behavior, language and IQ performance. The latest study revealed something especially remarkable – ESDM resulted in “normalized patterns of brain activity” in kids with autism when viewing a human face as compared to other objects. Since a fundamental goal of behavioral intervention is to improve interest in the social world, these results were especially powerful – the kids who participated in ESDM not only behaved differently, but their brains were functioning differently in real time.
ESDM applies learning principles – such as those used in more traditional ABA interventions – to shape and reinforce social behaviors as they happen in the stream of daily interaction. Parents as well as therapists are trained to administer the intervention program. And it is very intensive – it takes lots of hours every week, and the recent study evaluated kids after two years of intervention. No doubt, all these features are critical reasons why it may be having such a beneficial effect.
I see this work as signaling a breakthrough in intervention in two ways. First, it reminds us that just because a developmental disorder may be biological/genetic in origin, that does not mean that interventions need to be biological to produce substantial changes in developmental patterns. Second, creative interventions that utilize learning principles within the flow of everyday interaction – and incorporate the collaboration of therapists and parents – may be particularly effective in “reprogramming” both social behavior and how the brain processes social information.
We will continue to see lots of research on the biology of autism, and this work continues to be extremely important. But I do hope that we see more and more effort (and scientific and social resources) aimed at developing and refining behavioral interventions that hold considerable promise for promoting positive developmental changes in kids with autism.
Human Brain Research and Autism via Shutterstock.com
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Wednesday, November 28th, 2012
This will be brief.
There continues to be loads of information on the role of genetics on behavioral/emotional/developmental disorders. This pace will continue. But the big picture for parents can be elusive. So here is a primer.
Some disorders are “genetic” in the classic sense—meaning they primarily have a genetic foundation. They tend to be very rare and distinctive. Examples are Fragile-X syndrome, and Down syndrome.
That said, most disorders these days are assumed to be “complex”—meaning that they arise from a combination of risk factors, both genetic and non-genetic in origin. In many cases, there may not be “one” definitive etiology but rather a range of causes that can vary from kid to kid. For example, it is believed that some cases of autism are due to rare genetic mutations (some of which may be associated with paternal age). But this type of causation may only account for a small fraction of the cases in the population. There may be a number of genes (some suggest it could be in the hundreds) that convey some level of risk for autism. And for these cases, the environment can also be a potent influence, as evidenced by recent twin studies. That said, the actual environmental factors remain elusive.
This idea of “complex” causation probably applies to the vast majority of behavioral/emotional/developmental disorders. ADHD is believed to be highly heritable—but there are no genetic markers that distinguish normative levels of inattention and hyperactivity from problematic ones. And just because ADHD is heritable, that doesn’t mean that the environment doesn’t matter. Biological environments (such as prenatal exposures) may play a role. The psychosocial environment is also very important in terms of shaping how ADHD gets expressed. In the case of “complex” disorders, genetics is often described as influencing “what is,” but not “what can be”—which is another way of saying that psychosocial interventions can be powerful approaches for altering behaviors that are “genetic” in origin.
We’ve learned a lot about genetics over the past few decades. We will continue to learn even more. But the reality right now is that, with the exception of rare “genetic” disorders, there is still more unknown than known about the role that genes play in the evolution of behavioral/emotional/developmental disorders. What we do know, though, is that environment matters. So whether we are talking about autism or ADHD or conduct problems or other issues, a parent’s best line of action is to get reputable psychosocial interventions that have been shown to work. Remember, genetics is, more times than not, more about “what is” rather than “what can be.”
Lab Experiment via Shutterstock.com
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Tuesday, November 13th, 2012
On the one hand, the recently published paper suggesting a link between flu in pregnancy and risk for autism is an important one. Researchers continue to look for clues for any of the multitude of risk factors that might contribute as partial causes of autism. There is certainly interest in the prenatal period and exposure to many potential influences.
On the other hand, as a scientist and parent, I start to cringe when I see studies like this one getting translated into hyperbolic headlines. Why? Simply put, what we’ve really learned from this study is that we might want to try to further study the associations between flu, pregnancy, and autism. That’s it.
Now, that might seem like a puny contribution. It isn’t. But what you need to know is that all studies reported in scientific journals do not have the same goal. Some hone in precisely on a given topic and try to cement knowledge with rigorous hypotheses. Others, however, provide an initial clue that something should be looked at closer. That’s where we are at with the flu, pregnancy, and autism link.
You should think of this study as exploratory. Why? There are a number of reasons, and I’ll list just a few. First – the study relied entirely on mother’s recollections. This isn’t the optimal way of studying the association – not because moms (or anyone else) are unreliable, it’s just that the most precise way would be to use a number of methods (including prospective in-person assessment and reporting, medical records, etc) to record data that are not easy to catalogue. Second, the study looked at a whole bunch of potential factors in a very large sample. This means that the findings that come out as significant can be due to chance. While this is always the case in science, it’s especially so when there is a really big sample (simply because a large sample means very small results can reach statistical significance) and lots of potential associations are tested – and it’s the reason that science demands replication across a number of studies before we agree that a finding is established. Third, this point is reinforced by the finding itself – the risk increased from 1% to 2%. Any explanation in science is important, but when you look at the numbers this way it’s a bit more realistic (and sobering) than headlines that scream that the risk is doubled. Yes it was – from 1% to 2%. Think about the “margin of error” you heard about all through the recent presidential election with respect to polling – the same principle applies here. This difference could be a systematic result – or just chance. And right now the effect is rather modest. The bottom line is that more studies are needed to build on this to figure out exactly what is going on.
I’m a big fan of parents – and anyone who is interested – getting closer to science, especially new studies as they come out. But if we are going to support that, we need to explain more about the studies and what we think they mean, and don’t mean, right now. So here you go. Right now, it’s certainly the case that physicians and public health experts continue to suggest that pregnant women get vaccinated for the flu. If you are pregnant, talk to your doctor about that right now. Right now, extrapolating from these findings and trying to figure out if a child is diagnosed with autism because the mom got the flu when she was pregnant is not a productive exercise. Pointing a finger at a pregnant woman who is sick and saying that her unborn child will be diagnosed with autism is certainly not productive and would be misguided (not to mention hurtful). These exploratory studies are done to help guide future practices, not assign blame or create panic. They only provide a guide to future scientific projects that might shed more light and someday deliver more helpful guidelines for preventing autism.
Question marks via Shutterstock.com (because that’s the take-home message right now)
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