- [Jeff] Welcome to "Healthy Minds."

I'm Dr. Jeff Borenstein.

Everyone is touched by psychiatric conditions either themselves or a loved one.

Do not suffer in silence, with help there is hope.

Today on "Healthy Minds."

(gentle piano music) - We're in the range right now of prevalence estimates that places the frequency of occurrence of the condition at about 2.5% of all people.

One of the most important ways to help a child with autism is to make sure that the education plan during their school years is the right one for them.

(gentle piano music) - This program is brought to you in part by the American Psychiatric Association Foundation, the John and Polly Sparks Foundation, and the WoodNext Foundation.

(gentle piano music) Welcome to "Healthy Minds."

I'm Dr. Jeff Borenstein.

Today, I continue my conversation with Dr. John Constantino.

As we've discussed, there's a spectrum of symptoms, and by early interventions we can potentially move that child towards the more healthy side of that spectrum so that they can live a healthy full life without the severe symptoms and maybe even the ability to take advantage of some of the strengths that sometimes people have with this condition, - Jeff, that's 100% right.

And one of the other ways that we really understand this opportunity is in a very sad circumstance that has to do with what happens when a child's access to not only these specialized interventions, but also some of the earlier and optimal types of educational interventions in preschool settings and early education settings, is that we're able to observe what happens for children who have less than the national average for opportunities for those kinds of interventions.

So we're talking about a condition now that affects 2.5% of the population.

- Such an important issue, and a striking statistic with the good news being that if those interventions are available, then the results become more positive and really demonstrates that everybody should have access.

- Absolutely.

And we've seen, we have preliminary data now to show that when you resolve those disparities, you get these kinds of improvements and resolution of these poorer outcomes.

Every indication is that supporting young children in this way and supporting families in this way would have a major impact in resolving these kinds of severe disparities as they currently exist in the United States.

- I wanna shift gears a little bit and have you speak about some of the work that you've done, research about the traits of autism and how those traits exist in all of us.

Could you speak about that?

- A long time ago, it was believed that autism was very rare and something that only occurred in one in 5,000 individuals.

And yet it was always relatively suspected that for many children with autism spectrum conditions, there were family members who were not diagnosed with autism necessarily, but for whom there were some of the characterizing traits and features of the autism spectrum in relative ways.

So subtle kinds of differences in social engagement, or eye contact, or focus, or restricted range of interests, not in the way that would ever make them impaired in any way or functionally compromised, but just that those features aggregated in the families.

And when this information was coupled with the observation as autism was studied, again, in the middle part of the 20th century among siblings and family members and twins, it was noted that when autism affected an individual, and if they were a member of an identical twin pair, over 90% of the time, the co-twin was also affected by autism.

In fraternal twins, that number was much lower.

And that pattern of a very high degree of concordance when a pair of twins is sharing all of their genetic variation versus a pair of twins who only share half of their genetic variation, when you see that kind of an erosion in the likeness of twins, that is a very strong signal that genetic factors are playing an influential role in the condition itself.

So when you put together that with the idea that family members are showing subtle traits and symptoms of the autism spectrum, those family members of individuals with a diagnosis of autism, that was a sort of call to ask the question, again, of what is the range of the autism spectrum if we were to measure autism not as an all or nothing thing, but as a quantitative trait, something that had a relativity about it, that you could have a little bit of it, or more of it, or a lot more of it?

But 25 years ago, the methods for establishing a diagnosis or assessing autism or measuring autism were all focused on does a person have autism or do they not have autism?

And this was true for a lot of psychiatric conditions of all humanity that we used to think of them as all or nothing things.

And the more those conditions have been studied, and this is true for ADHD, anxiety, depression, psychosis, that the notion of an all or nothing condition probably doesn't apply.

And there's reasons why these conditions exist on a scale of gradation of severity, and we can talk about why that is.

But in autism, there was no way to even measure that or quantify how the symptoms might vary between someone with more severe or less severe levels of affectation.

So in our own laboratory, we assembled a group of experts across the fields of neurology, psychiatry, developmental pediatrics, nursing, social work, parents who were very knowledgeable about the autism spectrum in their affected and non-affected children.

And we brought people together and asked them to assemble a set of questions on a scale of severity that would relate to the symptoms of autism in a quantitative way.

So in other words, do you observe a little bit of this or a lot of this?

Does this happen some of the time, most of the time, almost all of the time?

And this group that we assembled, this was back in the late 1990s, came up with a set of questions that were then tested for the comparison between children affected by autism and those not affected by autism.

And the constellation of questions and items that quantified the severity of the condition differentiated individuals with autism from individuals with other psychiatric conditions, other neuropsychiatric disorders, by about three standard deviations.

So a lot of separation.

So this method for quantifying autism was functioning to be able to distinguish people with autism when they were diagnosed from people with other psychiatric conditions.

So then what we did was to take that measurement and say, "Well, what does it look like for all humanity?"

So we took an epidemiologic sample of people, fully representative of the whole population, fully expecting that some people in the population would score relatively high on the measure and other people would score relatively low on the measure.

Those who scored high would essentially be the ones with a diagnosis of autism.

And we used large enough epidemiologic samples so that we could capture the few that we thought that we would capture and that we enriched those samples with people who had been diagnosed with autism.

What we found was a complete surprise, which was that when you looked across the population that there were people with severe, and not quite so severe, and less severe, and moderate, and less moderate, and mild, and mildest, all the way across the spectrum of continuity between a relatively high facile level of social functioning and the most severe level of impairment that it was, as we talked about before, a complete bell curve, a complete continuum across all humanity.

And of course, the implication of that is that autism isn't just about the people affected by autism, but that this spectrum extends to the entire human population.

That this is just one tale of a distribution of variation in social behavior that's part of all of us, and that's actually true for most psychiatric conditions.

So that was the beginning of a new opportunity to see autism through a different lens, to trace its manifestations even in its subtle forms in families, and to understand more about genetic mechanisms of transmission, and then to ultimately move knowledge about genetic transmission of the autism spectrum conditions into mechanistic studies of how does genetic variation actually influence the condition, and how might we compensate for that or counter that in research on interventions, particularly those that are early in development?

- Just as in the case of medical conditions, think about heart disease, people can have a little bit of plaques in their arteries or a lot, and there's a gradation between the two.

And as cardiologists have learned more about that, they've been able to take steps to decrease the risk of it progressing to a heart attack.

This is really a similar kind of approach to symptoms of autism.

I wanna shift gears a little bit and ask about, as a child on the spectrum grows up, what types of things can be done to ensure that they're able to be in the community and live their best life?

I'd like you to talk a little bit about that.

- Well, we've talked about developmental interventions and early educational and behavioral supports, and that realm of intervention is really all about supporting the development of capacities that wouldn't otherwise come online over the course of the early years of life.

So those early interventions are about building competencies in social interaction, communicative exchange, play-based interaction with other human beings, with other children, learning early academic skills and so forth.

So the early interventions are designed for capacity building, and the more of that that we can do and enable an individual with autism to essentially have paths through some of the consequences of the symptoms of autism, all of these developmental competencies over time, the higher they can be supported and developed offer these sorts of opportunities to either compensate, or overcome, or really live with and adapt to what those symptoms of the condition are.

That's the early interventions and the early education component of this.

But things change over time.

And it's one of the interesting things about the support and care of children with autism is that it's common for individuals and families affected by autism to be directed to experts in certain areas.

So let's say a developmental pediatrician or let's say a developmental therapist.

But when a child ages out of early childhood and preschool, then other types of intervention become extremely important for their continued development and adaptation.

The first one to think about is the transition from preschool to school.

And I've often told audiences of people that I've had a chance to interact with when they've asked me as a clinician, what did I think was the most important thing that I was able to do as a clinician to support families and children affected by autism.

And physicians, people think, have all the tools in the trade that exist, some of which are not very effective for this condition, but medicines, and different kinds of developmental therapies, and all of the things that we have at our disposal in the health system that might be applied.

But what I tell most people is that one of the most important ways to help a child with autism is to make sure that the education plan during their school years is the right one for them.

Now, if you think about it, school is where a child does his or her work.

It's their 40 hour work week.

It's where they are learning, it's where they're adapting.

And oftentimes in a school setting for a child with autism, if there's a mismatch, if the class is too big, or too loud, or there isn't enough individualized instruction, or the kinds of things that the child is learning are things that are not motivating to them, and they're distracted, or disengaged, and there isn't the kind of appropriate educational support to overcome those gaps in learning, then those 40 hours a week of school are not working.

Their downtime in development, the clock is ticking, the child is growing, their brain continues to form, and there's a mismatch between what is happening 40 hours a week for that child and what could be tweaked, changed, modified through special education to make sure that those hours are hours well spent and in service of that child's learning.

So oftentimes this occurs under the auspice of what's called an individualized education plan under the federal legislation for the support of children with developmental disabilities.

And too often those education plans are not executed or carried out in a way that would offer a child their best chance to make the most use out of their education years.

So that individualized education planning process is essentially a right to all children in public schools and to make sure that that process is done well and advocated for, and the experts are interacting with the school personnel to make sure that that plan is right for that child, is a very, very important aspect of intervention that I can't emphasize enough.

I think it's one of the most important ways to help a child with autism.

And lots of times families just don't know how important that is.

And then the other thing that I think is very important during the school years is the very close attention to co-occurring psychiatric conditions.

So one of the issues about the genetic causation of autism is that some of the genetic factors that confer liability to autism also confer liability to other psychiatric conditions.

The best example is ADHD.

Almost half of children with autism also have attention deficit hyperactivity disorder.

And sometimes it can be hidden, it can only be manifested by distraction or disengagement.

And if it's not treated, it's gonna compound the autistic syndrome in a way that is remediable by the appropriate treatments for ADHD.

So oftentimes what I'll tell trainees in the clinical realm for autism is when you have a child, a school aged child with autism, always be on the lookout for something else: an anxiety disorder, depression, ADHD, all of those are treatable.

But if they're not treated and they're thought to be, well, this is just what's part of a child's autism condition, then that child is gonna have their condition unnecessarily compounded by those other syndromes.

And oftentimes when children with autism are either anxious, or depressed, or the IEP isn't right, and they're frustrated, they may begin to become irritated or even aggressive.

And in those situations, there are great treatments.

This is not a necessary part of the autism spectrum.

And when we see these kinds of behavioral conditions that are complicating an autistic syndrome, they should be treated at the very highest level because, again, the total level of impairment of a child when they not only have autistic symptoms, but they have to deal with the other neuropsychiatric symptoms that compound that, ultimately the effect is to make their total adaptation and functioning worse.

So that's school age.

And then I'll just say two more things about the next phase of development, which is broadly the transition through adolescence and then adulthood.

And again, these are really important junctures where the old interventions don't necessarily apply and one has to think about this next phase of human development.

One of the things that I like to tell families and clinicians in training about the teen years and the adolescent years is that adolescents with autism are adolescents first and have autism second, and not the other way around.

And oftentimes people forget that every adolescents, every adolescent child, one of their jobs is identity formation.

They have to come up with a way to think of themselves as valuable, competent, effective in the world around them and independent of the love of their parents or their family of origin.

Identity formation is a task of adolescents, and sometimes the awkward, clumsy strivings that we know are part of all adolescents, when they happen within the context of having autism as well, can take unusual paths, or forms, or expressions.

And if the people around a child in adolescence with autism are not recognizing that this new symptom, this new behavior, this new developmental kind of immaturity or regression is really about an impasse that that child is experiencing with forming their own identity, with feeling valued, feeling part of something outside of themselves, then you're missing the boat on one of the most important aspects of all human development.

And that doesn't mean you have to treat autism in a different way, it means you have to treat that person as an adolescent in a different way and respect that need for their own autonomy, identity, and the development of those aspects of their being.

And then finally, when school is over, one of the very sad observations about the developmental trajectories of people with autism is that the supportive school is so very important as we've talked about.

And if anyone ever doubted that there are exquisite documentations of the trajectories of most individuals that reflect a representative of the course of most individuals with autism spectrum conditions, that when they leave the support of a school environment and the school day, and the structure around that built into their education plan, it is extremely common for people with autism when they leave school, and they don't have a job, and they don't have structure, that their condition becomes worse in relation to behavior, in relation to motivation, in relation to the common observation of even developmental regressions, again, the acquisition of patterns of behavior that look like they've gone backwards, more immature following the graduation from school because the transition to adulthood has not been handled well, and there isn't the necessary level of supports or the opportunities to meaningfully engage and interact with the world around them.

And this becomes another critical node of development in the life course of an individual with autism where frankly owe it to individuals in this group that their transition to adulthood has to be supported, and engaged, and to have a game plan and a pathway to function in their own way as a contributor to the world and the society around them.

And individuals with autism strive for that just like everybody else does.

And creating those opportunities have been shown to change the lives of individuals with autism in the transition to adulthood.

So it's really possible.

But structurally and systematically, we haven't engaged all of those kinds of supports for most children who crossed the threshold from adolescents into adulthood.

Again, thinking about the fact that historically, and for most adults in the population, when we think about their histories and their lives, they were born in an era where we didn't think autism affected any more than one in 5,000 people.

So we have a lot of catching up to do at that node of the development of the life course of individuals with autism.

- John, that was a great overview of key points in time for people with autism.

And I wanna thank you for joining us today, but more importantly, for the extraordinary work that you've done in this field and your passion as you speak, your passion for people who are living with autism comes across so clearly, as well as the hope for people who have that condition to be able to live their best lives.

So thank you, John, so very much.

- So good to be with you, Jeff.

Thank you.

(gentle piano music) - [Jeff] Do not suffer in silence, with help there is hope.

This program is brought to you in part by the American Psychiatric Association Foundation, the John and Polly Sparks Foundation, and the WoodNext Foundation.

(gentle piano music)