What do we know about autism and what questions should we be asking?
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Hi, I'm Dr. Brian Goldman. Welcome to The Dose. The topic we're doing this week is one of the most controversial. Autism is a neurological and developmental disorder that begins in childhood. It affects how kids interact with others, how they communicate, how they learn, how they behave. In the past few years, the number of kids diagnosed with autism has gone up dramatically. The condition was once believed by some to be linked to the MMR vaccine, but that's been thoroughly debunked.

Robert F. Kennedy Jr., Health and Human Services Secretary in the Trump administration, has pledged, and I'm quoting here, a massive testing and research effort, and a quote, to investigate potential causes. So this week on The Dose, what do we know about autism and what questions should we be asking? Hi, Melanie. Welcome to The Dose.

Hi, Brian. Great to be here. Great to be speaking with you. I learned recently on Google Trends that searches for autism have gone up a lot lately. Does that surprise you? It doesn't surprise me. I think anytime autism is in the news, we can expect that people are going to be turning to their different sources. And one of those main sources is Google. I sense for better or worse, searches have been going up. Am I right? Yeah.

Yeah, yeah. For better or for worse. You know, knowledge is important. So it's important that people are looking. It's also important that people are going to trusted sources. So hopefully they're also asking their doctors for information about autism as well.

And this is exactly why we've come to you. But before we begin this really important conversation, can you give us a hi, my name is, tell us what you do and where you do it. Sure. My name is Dr. Melanie Penner. I am a physician, a developmental pediatrician at Holland Bloorview Kids Rehabilitation Hospital, where I am also a senior clinician scientist. So let's begin with the basics. How do health professionals define autism?

We define autism based on diagnostic criteria that are provided in a big document we call the DSM. So the diagnostic criteria in the DSM for autism spectrum disorder, which I'll call autism, are based in two broad areas. So the first broad area is called social communication. Social communication, like it sounds, combines both our social engagement, but how we communicate with each other.

So the criteria there focus on back and forth interaction. They focus on how people build and maintain relationships and how people communicate, not just with their words, but also nonverbal communication. So there we're thinking about things like eye contact, gestures and facial expressions. Our other big category is.

or among the diagnostic criteria, are the restricted repetitive behaviors and interests. So this, as it sounds like, is a pretty big grab bag of different features that go along with autism. So we can think about some of the different types of ways autistic kids play, how people move their bodies, perhaps repetitive ways of using language. We see challenges dealing with change. We see really intense and passionate interests

And we also see sensory differences, both either things that people really enjoy in the sensory world or things that are more difficult for them in the sensory world. At what age does it generally become feasible to make the diagnosis? We can see in many children, we can make the diagnosis at a really young age. So even by age two, we can diagnose all

a lot of children. However, that's not the whole story. So there are a number of people for whom they might have the coping skills to move through the world. And it's not until a bit later in life, so potentially their school years, sometimes even high school years. And unfortunately, we've seen a lot of adults where that's the time their diagnosis gets made.

And we want to get better at picking up those early signs so that people are not getting to adulthood by the time we make that diagnosis. I mentioned that the diagnoses of autism spectrum disorder have been on the rise. How dramatic has that trend been?

So I did medical school in the kind of late 2000s. I think we were getting to one in a hundred by that point. And now the latest numbers from the Centers for Disease Control in the U.S. are one in 31 children is autistic. And so we have seen a dramatic increase.

increase in the number of autism diagnoses. What is thought to be behind that is less due to increase in the

real prevalence of autism, but instead a broader recognition of what autism is and how it can affect people, as well as really, really strong efforts at awareness so that we are actually recognizing when people are autistic instead of, you know, cases where they might have gone there most of their lives without knowing that about themselves. And hopefully that increased recognition and willingness to have the condition formally diagnosed and recognized is

has something to do with decreasing stigma about the condition itself. I think those two things go so hand in hand, which is the...

The level of fear and stigma that goes along with autism is another thing that we have really worked hard in the research clinical community as folks who want to try to be allies to autistic people to reduce that stigma, mostly because that is a key part of making sure that autistic people can thrive in society. I think it also has a

a really important effect on how parents might feel about seeking out that autism assessment for their child. If it seems like a big, scary thing, we're just adding another barrier to getting that assessment done. Is it fair to say that autism is primarily a disorder of the brain?

Autism is primarily located in the brain, a result of differences in the development of the brain. Autism has its effects throughout the body, though, and sometimes where we have erred in the past as medical professionals is to overlook those other areas of the body. If we could peer inside the brain of someone with autism, how would it look compared to someone who doesn't have the condition?

So there have been lots of studies that have looked at MRI imaging, functional MRI imaging, where you're looking at how different parts of the brain are activated by different stimuli or different activities.

And there are definitely ways that the brains of autistic people might differ from a population of neurotypical people in how the brains are over or under connected in certain areas compared to what we would expect. What is tricky, though, is that we have more trouble distinguishing those pictures of the brain between autistic folks and folks who have

other types of neurodevelopmental diagnoses like ADHD, for instance. And so this is telling us this is a really complex underlying biology where we need to be mindful of not being limited just by one diagnostic label, but we really need to think across all of what we know about brain development to further our understanding.

the diagnosis of autism, autism spectrum disorder is a clinical diagnosis. That means it's based on the presentation of the child. So how do you test for autism? As you said, autism is a clinical diagnosis. And for me, part of that is understanding, yes, does this child meet this set of criteria that we have set out in this big document? But it's also beyond that about understanding their story,

their strengths, their challenges, their passions. So the first part of that for me as a developmental pediatrician is meeting with the child and their family. As much as the child is able to, I love for them to tell me about their world and what they love. And particularly for teens who are coming into the clinic who think they might be autistic, I want to hear from them and understand why that is. For parents, I want to understand what they're seeing from their child. What does it look like?

look like when your child is around other children. So asking for lots of descriptions. The next part is the best part, which is when I get to play with the child. And so here we're doing activities that are meant to sort of pull for some of those social, those back and forth social interactions for

pretend play. We're looking for different behaviors for things that might be more challenging for this child. What makes them excited? And then I pull it all together. I think

think about, again, not just whether this child is meeting those diagnostic criteria, but what are their strengths and challenges and what are the family's strengths and challenges? And then we spend a long time talking together, me and the family, about here's why I think that this child meets these diagnostic criteria. There's often a lot of

feelings that can come up with that. But then we make a plan together and a plan that is recognizing the whole part of who that child is, as well as what their family needs are. You mentioned that sometimes you're assessing teens. How does the assessment of a teen differ from, say, a preschooler?

When you're assessing a teen, there are so many more things that could be coming into play as part of, you know, the list of possible diagnoses. And so autism is not the only thing that can cause social challenges. You know, there are a lot of mental health conditions that can cause social challenges. There's bullying. There are real, you know, challenges that any teenager sort of experiences in their social world. So we're trying to

pull all of that apart. It's often a little bit more challenging by the time that they get there. It's also frankly delightful though to interact with teenagers to hear about what they think about themselves, what they think about autism and whether this applies to them. We're really getting into the core of their identity and who they are. And just so that we're clear, there is no blood test to screen children for autism, is there? There's no blood test to diagnose autism.

There are blood tests that can be done to look at a person's genetics and to see if there are any genetic differences that might be associated with autism. And so sometimes we might see people who have had those genetic tests done for other reasons before they come into the clinic and something has happened or something's been found that says that they're at a higher likelihood of potentially being autistic. And so that might be one kind of scenario.

We're also offering genetic testing after the autism diagnosis is made. And that is to see, again, if there are genetic conditions that are associated with autism, but more so to understand if there are other health conditions that we need to be monitoring for in that child. It can sometimes help us understand the likelihood of autism recurrence in that family. So that is a way that we use blood tests, but we don't use them to make the diagnosis.

There is a sometimes, perhaps often related condition called Fragile X Syndrome, and there is a gene called the FMR1 gene. What can you tell us about those? Yeah, so Fragile X Syndrome is a genetic condition. It has to do with the number of

times a particular gene is repeated on the X chromosome. And because of that, we're more likely, vastly more likely to see it present in boys compared to girls. And the likelihood of being autistic if you have Fragile X, if you have that particular genetic difference, is very high. And so that is certainly one of those conditions where

first of all, if it's been identified before you've had autism diagnostic testing, it might be an indicator that that's needed. If you've had your autism diagnostic testing, particularly if there are things that are going along with it that suggest that Fragile X might be a possibility, and so that might be kids who all

also have difficulties with their learning or an intellectual disability, that would be an indicator for us to say we should definitely make sure we test for Fragile X. Now, what environmental factors might increase the likelihood of autism? The environmental factors for autism are really myriad. And so there's a variety of them and they can be challenging to study. So there have been some that we have identified. Some

Some of them sort of start in, well, many of them start in pregnancy. And so, you know, things like living close to highways and the level of pollution has been associated with a higher likelihood of autism. Preterm birth has been associated with a higher likelihood of autism. Certain medications during pregnancy are

a medication called valproic acid has been associated with autism. But the key thing to remember here is that none of these individually 100% predict a diagnosis of autism. And so they

increase the likelihood, but it does not mean that every person who has that particular exposure goes on to have an autistic child. These are associations right now. They aren't cause and effect, are they? These are not cause and effect

These are associations that we're trying to figure out more. And I want to be sure that, you know, as a clinician, I'm not giving a parent an idea that they caused this. Because I know when I give the diagnosis,

I see parents and often mothers, you know, go back and think through everything that they could have done that led to this. And it's really important for families to know that autism is not something that they caused in their child. Got it.

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Part of our discussion is about not just what we know, but what we want to know more about. What are some of the factors that researchers are really hot on the trail of trying to unpack, the ones that you want to know a lot more about? So indeed, there has been a lot of attention for decades now in trying to understand what might lead a particular person to being autistic in terms of their biology.

Where I think the research needs to go is what are the factors

that cause an autistic person to thrive in their life. And so some of that might be their biology. We know though that social determinants of health, so housing, employment, food security are massive parts of determining a person's wellbeing, their developmental trajectory, how inclusion factors into all of this is really important. So it's not just about kind of how

how we understand how a person came to be autistic, but, but understanding really our opportunities to intervene in that person's life at various points to intervene in society as well in such a way that, that we can give them, you know, the outcome, the best outcome that they want for themselves. I mentioned in the introduction, um,

R.F.K. Jr., the U.S. Health and Human Services Secretary, and the studies that he's commissioned. But first, I want to reflect for a moment on the fact that he and many others have stated their belief that there's a link between MMR vaccine and autism. And I want to ask you, what does science say about that claim? The question of a link between MMR and autism is a scientific question that has been asked and threatened

thoroughly answered and the answer is there is no link. You will rarely find scientists willing to be as definitive as we are on this. This has been thoroughly addressed. We have data on millions of children at this point showing zero increase

increased likelihood of autism among children who are vaccinated and specifically among those who are vaccinated with the MMR vaccine compared to those who are not.

As I mentioned off the top, RFK Jr. has pledged to identify some potential causes of autism. As a scientist yourself, what will you be looking for in the ways he goes about it? I think in any scientific endeavor, we need transparency. We need to understand...

what the data are, how they've been analyzed. We have processes for peer review where experts review each other's work and identify whether the work has been done rigorously. And then people still, after something's been published, can still say, actually, I think that you've missed something here. So I'm

I'm going to be looking to see the rigor of the study, what data they're using, what things they're testing as potential environmental exposures. You know, we're all exposed to millions, billions of things in our environment each and every day. So how you isolate the ones that

you're going to study is really important. Will those draw on the existing literature that has been happening to date through organizations like the NIH, the National Institutes of Health in the US? So I'm hoping to see that and I'm hoping to see a building on the existing literature and that we're not kind of going in with assumptions about what the answers might be.

As a developmental pediatrician, you recommend treatment. What does good care for kids with autism look like these days? So we've really moved from one size fits all recommendations for autism therapies into more personalized and family centered recommendations.

So previous recommendations were that every kid needed 20 to 40 hours per week intensive behavioral therapy. And the evidence has shown us that that dosage amount, first of all, did not make sense for every family, did not make sense for every child, and actually wasn't supported by the literature. And so indeed, now it's more about going through a process with families about shared decision making.

There are definitely some kids who need more therapy and they should be able to access that. They should be able to access that, hopefully without their own family's personal finances being the main determinant. But there are some kids who need something else.

something at a different dosage, and those kids should be able to access that as well. So some kids need more occupational therapy to help with their sensory needs. They might need speech and language therapy to help with their communication. As they get older, so, so many need mental health therapy to help deal with kind of issues of identity and that the co-occupation

co-occurring conditions that we know go along with autism. And so we've really moved on to individualizing our therapy recommendations. How important is it these days for a child or a teenager to get a diagnosis to gain access to appropriate treatment? A diagnosis is still the key to accessing a lot of

publicly funded treatment or publicly funded therapies or funding. And so, you know, diagnosis is still important for that reason. Arguably, many of us would like to de-emphasize diagnosis and think more about what an individual child and family's needs are in helping

to understand not just their access or eligibility for therapy, but kind of how much and what kind of therapy would be useful for them. I will say as well, though, that

Accessing a diagnosis has many important facets beyond just access to therapy. And I think one of the key ones is helping that autistic child understand themselves and working toward accepting themselves as an autistic person. And that is so important as we're talking about that future mental health, because we know that acceptance, both kind of in

internally of yourself, as well as acceptance from the people around you is really important for mental health as kids get older. Where and how do parents get that access to treatment for their kids? Is it invariably through a developmental pediatrician such as you? There are across the country different ways that family

families access autism diagnosis. So it really depends on the province that you're in. One key issue that we're having, though, is around capacity for autism diagnoses. With the autism prevalence being what it is, we know that not every kid can be seen by a subspecialist because there just aren't enough of us.

And so I've done a lot of work along with colleagues in a program called Echo Autism, where we've trained community-based providers, general pediatricians, family doctors, nurse practitioners who are interested in doing this work. We train them on how to do a high-quality autism diagnostic therapy.

assessment themselves in their community, because this is really an all hands on deck issue in terms of helping families get timely access. And finally, what's the current prognosis for kids diagnosed with autism? And I guess a related question is how much treatment can help alter that prognosis? So the prognosis is really...

variable with autism, depending on what you're sort of talking about. And often when I'm talking with families about that, what they mean is what is the likelihood that my child is going to live independently, go to university, get married, have children. And certainly autistic people, many autistic people go on to do all of those things.

And so when I give that diagnosis, it's important to let the family know, particularly for a young kid where we're still waiting to see how their life unfolds, that those things are still on the table. Therapy can certainly play a part in giving kids those skills to navigate the world. Inclusion is also important. The education system is also important. And

I think beyond those pieces of prognosis that are related to independence, I think we also need to do work to validate an interdependent life where all of us rely on each other. All autistic lives are valuable. All autistic people deserve dignity. And so my ideal for a prognosis for any autistic children

or child is that they're going to go on to live a happy life where they feel valued, where they feel like they are living out in their world according to their skills. So that's an important piece, I think, as well, when we're thinking about the prognosis across autistic children and youth. Well,

Well, this has been a really interesting conversation and a timely one. Dr. Melanie Penner, I want to thank you for coming on The Dose to talk about autism. Thanks so much for having me. Dr. Melanie Penner is a developmental pediatrician and the senior clinician scientist at Holland Bloorview Kids Rehabilitation Clinic in Toronto. And here's your dose of smart advice. Autism is a neurodevelopmental condition which is usually diagnosed in the first three years of life.

The incidence of autism has gone up dramatically in the past few years. Now, researchers believe the main factor in that increased incidence is greater awareness of autism and decreased stigma regarding the diagnosis. Boys are more likely than girls to get the diagnosis. In some cases, girls with autism may be misdiagnosed with other conditions.

Parents often become concerned about autism when their child's speech is delayed, when they seem to have difficulty relating to other children their age, and when the child's interests seem narrow or restricted. The child may avoid direct eye contact with others and may focus on parts of objects, for instance, the spinning wheel of a toy car.

Asperger's was once considered distinct from autism. However, since 2013, the signs and symptoms that were once part of an Asperger's diagnosis now fall under autism. Since children don't have some of the typical features of autism, they tend to be diagnosed later in life. The cause of autism is currently unknown, but is generally believed to be due to a combination of genetic and environmental factors. More than 100 genes have been associated with autism.

The FMR1 gene located on the X chromosome is the most common single gene disorder associated with ASD. Over one dozen well-designed studies have looked at autism and the MMR vaccine. Each has found no credible link between autism and the vaccine. At present, there is no blood test to diagnose the condition. It's a clinical diagnosis made through careful assessment by an expert. There is no cure for autism.

When appropriate services are provided, though, especially during childhood, many people with autism can live and work successfully. If you have topics you'd like discussed or questions answered, our email address is thedoseatcbc.ca. If you liked this episode, please give us a rating and review wherever you get your podcasts.

This edition of The Dose was produced by Samir Chhabra and Brandi Wakely. Our senior producer is Colleen Ross. The Dose wants you to be better informed about your health. If you're looking for medical advice, see your health care provider. I'm Dr. Brian Goldman. Until your next dose. For more CBC Podcasts, go to cbc.ca slash podcasts.