Autism is not a single condition. It’s actually a spectrum of disorders, a spectrum that ranges, for instance, from Albert, a 9-year-old boy, who’s not verbal who can’t speak, who communicates by using an iPad to touch pictures, to communicates his thoughts and his concerns. A little boy who, when he gets upset will start rocking. And eventually when he’s disturbed enough will bang his head to the point that he can cut it open and require stitches. That same diagnosis of autism though also applies to Gabriel. Another 9-year-old boy who has quite a different set of challenges. He’s actually quite remarkably gifted in mathematics. He can multiply three numbers by three numbers in his head with ease.
One of the things that concerns us is whether or not there really is an epidemic of autism. These days, one in 88, children will be diagnosed with autism. And the question is, why does this graph look this way? Has that number been increasing dramatically over time? Or is it because we have now started labelling individuals with autism, simply giving them diagnosis when they were still present there before yet simply didn’t have that label. And in fact, in the late 1980s, the early 1990s legislation was passed, that actually provided individuals with autism, with resources, with access to educational materials that would help them with that increased awareness, more parents, more paediatricians, more educators learn to recognise the features of autism. As a result of that, more individuals were diagnosed and got access to the resources they needed. In addition, we’ve changed our definition over time. And so in fact, we’ve widened the definition of autism and that accounts for some of the increased prevalence that we see. The next question, everyone wonders is what caused autism and a common misconception is that vaccines cause autism. But let me be very clear, vaccines do not cause autism. In fact, the original research study that suggested that was the case was completely fraudulent. It was actually retracted from the journal Lancet in which it was published. And that author a physician had his medical license taken away from him.
Furthermore, one of the ingredients in vaccines, something called thymol was thought to be what the cause of autism was that was actually removed from vaccines in the year 1992. And you can see that it really did not have an effect in what happened with the prevalence of autism. So again, there is no evidence that this is the answer. So the question remains, what does cause autism? In fact, there’s probably not one single answer just as autism is a spectrum. There’s a spectrum of ideologies, a spectrum of causes based on epidemiological data. We know that one of the causes or one of the associations I should say is advanced paternal age that is increasing age of the father at the time of conception.
In addition, another vulnerable and critical period in terms of development is when the mother’s pregnant during that period, while the fetal brain is developing, we know that exposure to certain agents can actually increase the risk of autism in particular, there’s a medication valproic acid, which mothers with epilepsy sometimes take, we know, can increase that risk of autism. In addition, there can be some infectious agents that can also cause autism. And one of the things I’m gonna spend a lot of time focusing on are the genes that can cause autism I’m focusing on this, not because genes are the only cause of autism, but it’s a cause of autism that we can readily define and be able to better understand the biology and understand better how the brain works so that we can come up with strategies to be able to intervene. One of the genetic factors that we don’t understand, however, is the difference that we see in terms of males and females.
Males are affected four to one compared to females with autism. And we really don’t understand what that causes. One of the ways that we can understand that genetics is a factor is by looking at something called the concordance rate. In other words, if one sibling has autism, what’s the probability that another sibling in that family will have autism. And we can look in particular at three types of siblings, identical twins, twins that actually share a hundred percent of their genetic information and share the same intrauterine environment versus fraternal twins, twins that actually share 50% of their genetic information versus regular siblings, brothers, sisters, sisters, sisters, also sharing 50% of their genetic information yet not sharing the same intrauterine environment. And when you look at those concordance ratios, one of the striking things that you will see is that in identical twins, that concordance rate is 77% remarkably though.
It’s not 100%. It is not that genes account for all of the risk for autism, but yet they account for a lot of that risk. Because when you look at fraternal twins, that concordance rate is only 31%. On the other hand, there is a difference between those fraternal twins and the siblings suggesting that there are common exposures for those fraternal twins that may not be shared as commonly with siblings alone. So this provides some of the data that autism is genetic. Well, how genetic is it when we compare it to other conditions that we’re familiar with, things like cancer, heart disease, diabetes, in fact, genetics plays a much larger rule in autism than it does in any of these other conditions. But with this that doesn’t tell us what the genes are. It doesn’t even tell us in any one child, is it one gene or potentially a combination of genes.
And so in fact, in some individuals with autism, it is genetic. That is that it is one single powerful deterministic gene that causes the autism. However, in other individuals it’s genetic. That is that it’s actually a combination of genes in part with the developmental process that ultimately determines that risk for autism. We don’t know in any one person necessarily, which of those two answers it is until we start digging deeper. So the question becomes, how can we start to identify what exactly those genes are? And let me pose something that might not be intuitive in certain individuals. They can have autism for a reason that is genetic, but yet not because of autism running in the family. And the reason is because in certain individuals, they can actually have genetic changes or mutations that are not passed down from the mother or from the father, but actually start brand new in them mutations that are present in the egg or the sperm at the time of conception but have not been passed down generation through generation within the family.
In fact, the current estimates are that there are 200 to 400 different genes that can cause autism. And that explains in part why we see such a broad spectrum in terms of its effects. Although there are that many genes, there is some method to the madness. It’s not simply random 200, 400 different genes, but in fact, they fit together. They fit together in a pathway. They fit together in a network. That’s starting to make sense now in terms of how the brain functions, we’re starting to have a bottom up approach where we’re identifying those genes, those proteins, those molecules, understanding how they interact together to make that neuron work, understanding how those neurons interact together to make circuits work and understand how those circuits work to now control behavior and understand that both in individuals with autism, as well as individuals who have normal cognition, but early diagnosis is a key for us.
Possible Solutions
It’s probably gonna be a combination of factors in part, in some individuals we’re gonna try and use medications. And so in fact, identifying the genes for autism is important for us to identify drug targets, to identify things that we might be able to impact and can be certain that that’s really what we need to do in autism, but that’s not going to be the only answer beyond just drugs. We’re going to use educational strategies, individuals with autism, some of them are wired a little bit differently. They learn in a different way. They absorb their surroundings in a different way, and we need to be able to educate them in a way that serves them best beyond that. There are a lot of individuals in this room who have great ideas in terms of new technologies. We can use everything from devices. We can use to train the brain, to be able to make it more efficient and to compensate for areas in which it has a little bit of trouble to even things like Google glass.
An Invitation to all!
What’s going to be a meaningful difference as we think about something that’s potentially a solution. How well does it work? Is it something that’s really going to make a difference in your lives as an individual, as a family with autism, we’re going to need individuals of all ages from the young to the old and with all different shapes and sizes of the autism spectrum disorder, to make sure that we can have an impact. So, we invite all of you to join the mission and to help, to be able to make the lives of individuals with autism so much better and so much richer. Thank you.
