- [Dr. 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.

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- The diagnosis is very interesting because it represents a constellation of coordinated symptoms or variations in behavior.

There are some imposters that can look very much like autism.

(thoughtful 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.

(thoughtful music) Welcome to Healthy Minds.

I'm Dr. Jeff Borenstein.

Autism.

What is it?

How do we make a diagnosis?

And what's the treatment?

Today, I speak with leading expert, Dr. John Constantino, about autism.

(thoughtful music) John, thank you for joining us today.

- My pleasure.

- I want to jump right in and start off with just an overview of autism.

Tell us what people need to know about this condition.

- Sure.

The term autism relates to a broad continuum of conditions, from very mild to very severe.

In its most severe forms, the condition can render an individual unable to really communicate and functionally interact with the world around them in a way that that will allow people to understand what their needs and wants and desires and thinking process actually is.

At the milder end, autism represents a condition that one would not necessarily think of as a disorder or an impairment per se, rather an atypicality or a difference in human development, particularly human social development, that sometimes sends them in a very unique path and course of life that capitalizes on some of the unique features of thinking and perspective.

At the mildest end of the condition is a set of characteristics and often strengths that render a person capable of unique patterns of thinking and perspective, and sometimes extraordinary types of abilities that will help them to make their own unique contribution to the world around them.

Many individuals affected by milder autism spectrum conditions are extraordinary in focused pursuits, sometimes academic pursuits, sometimes mathematical pursuits, sometimes visual-spatial kinds of capabilities that are associated as strengths with the condition.

And again, on the more severe end, as the condition manifests itself in the more impairing range of symptoms, can compromise the ability to communicate and interact with the world in a way that will honor what that individual's own strengths and interests and desires are.

- So as you're describing, and we hear the term autism spectrum, that there really is a spectrum of less severe symptoms to more severe symptoms.

What percentage of the population is affected by this range of symptoms?

- 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, more commonly in boys than in girls in the early origins of the condition.

And this is what one might expect from a condition that is defined by a spectrum or what in other realms would be considered a sort of bell curve.

People talk about the bell curve of intelligence, or people talk about height and the distribution of height and weight, and characteristics that are continuous or quantitative in that way.

And for most of those kinds of features of all aspects of human development, once one gets to the extreme side, one side or the other, of the bell curve, the 2.5% group is formally two standard deviations from the mean.

And if that's true for height or blood pressure or weight, we generally view those kinds of outlying conditions as potentially compromising to health.

And that doesn't mean that all autism spectrum conditions are compromising to health, but the point of it is, is that autism used to be viewed as a very rare condition.

And once it was appreciated that those rarer versions and the more severe versions were linked in a continuum with a wide range of severity or intensity of symptomatology, it becomes really important to think about, well, where do we draw a cutoff line in a bell curve?

And why do we draw a cutoff line in a bell curve for defining a condition?

- Very important point, because when you and I went to medical school, autism was viewed as a very rare disorder, which is obviously a change from now.

- Right.

- In part due to how we diagnose it and are more careful about diagnosis.

I'd like you to speak a little bit about how do we make the diagnosis.

If a family is concerned that their young child may be on this autism spectrum, what should they do?

And then what will a professional do to help them?

- Well, there are three anchors to diagnostic assessment to establish a diagnosis of autism.

Most cases can be diagnosed between the ages of 1-1/2 to 2-1/2 years old.

And that doesn't mean all cases can be detected or diagnosed that early, but a majority of them can be diagnosed in that age range.

And the anchors, there are three anchors of the diagnostic process.

One is the ascertainment of developmental history.

A child has to have a developmental history of an autism spectrum condition.

Because autism generally doesn't occur later in life or is not something that accompanies a developmental regression or, let's say, an insult to the brain, such as a head trauma or a hypoxic episode.

What is unique about autism, in contrast to some of the neurodevelopmental impairments that can occur later or that can be acquired, is that it's truly developmental in nature.

- What types of symptoms are you looking for in a diagnosis in terms of that developmental changes in early life?

- Autism is fundamentally characterized by variation in social characteristics and communicative characteristics of an individual.

So the diagnostic features of autism include social deficits, associated communicative deficits, and then a very unique set of features that relate to a proneness to overfocus, to be restricted in one's range of interests, or to engage in repetitive motor behaviors.

The diagnosis is very interesting because it represents a constellation of coordinated symptoms or variations in behavior that include social characteristics, such as eye contact and interpersonal engagement, being on the same wavelength as another person.

The consequences of that to communication at the most severe end, complete barriers to functional communication, but at the milder end, communication that might be somewhat unusual or less fluid in interpersonal context for conversations or language.

And then the separate domain of symptoms that has to do with either restriction in range of interests, focused kinds of thinking and pursuits, or the very unique kinds of repetitive behaviors that are observed in some individuals affected by autism spectrum conditions.

So those are the foundational diagnostic features of the condition.

But to make the diagnosis, one must determine that those features evolved early in the life.

They were part of the early development of a child in the early years of their life.

The second is that the degree of those symptoms has to exceed a threshold for what would be considered outlying in the range of variation in those kinds of behaviors that exist in the population.

So again, at that 2.5% extreme, if one's using a metric or a quantitative way of defining that level of symptom burden or severity.

And then the third feature of the diagnosis is that a clinician who is examining a child or trying to establish that diagnosis, who is knowledgeable about children's development, has determined that that developmental history and that constellation of symptoms is not better explained by another condition.

There are some imposters that can look very much like autism.

So for example, speech or language delay, or a cognitive disability in a young child, or a proneness to relatively severe anxiety, or hyperactivity and distractibility that might result in symptoms that somewhat register on the scale of severity for autism-related traits, but really the condition is more referable to one of those conditions than to autism itself.

And so it's those three things, developmental history, what is the level of symptom burden, and are the symptoms best explained by a diagnosis of autism or by something else?

Those are the three things that are brought to bear in making a diagnosis of autism.

- Very good overview of such an important issue for families.

I want to shift gears a little bit.

You spoke about eye contact, and that's an area of research that you've been very much at the forefront of.

And I'd like you to speak about the issue of eye contact and what you've found in looking at that, both in people who have autism and in people who don't.

- One of the most interesting and important aspects of the condition of autism is that it has certain unique features that typically don't manifest themselves in any other neuropsychiatric condition, other than autism.

And in the medical field, these are referred to as pathognomonic features.

And it's not to say that they absolutely never occur, but they are much, much more common in autism-related conditions rather than in any other condition of brain or mind that is among the neuropsychiatric conditions of people.

And the two that are the most unique to autism are variations in eye contact.

And it can be eye gaze aversion.

It can be a proneness not to engage visually with another person when it would be typical and most common to engage eye contact in the course of an interpersonal interaction.

So the eye contact abnormalities and eye gaze abnormalities have been noted from the very beginning as something fairly unique and fairly distinct in the autism syndrome.

The other are the stereotypic motor behaviors, repetitive motor behaviors that are essentially non-purposeful, and that when you see them, particularly in a young child, almost always raise concern for an autism spectrum condition.

So those are the two.

And years ago, it was reason that it is so common in autism and uniquely in autism that eye gaze and eye contact are different than what they would be for other children in the course of their development, other people in the course of their development.

Is it possible that we could learn something very important about the development of autism, the causation of autism, and for the more severe forms of it, whether or not a person could be supported, helped, improve, treated on the basis of these abnormalities in eye contact?

But we didn't really know 20 years ago, 30 years ago, what was the driver of that observation about this condition.

And so, a very cl clever set of experiments was done in the early 2000s that very carefully tracked how individuals with autism orient their eye gaze in comparison to other people and people with other neuropsychiatric conditions.

And pretty much as expected, what was discovered was that if a person with autism was gazing, watching particularly social scenes in a movie or in a set of laboratory experiments that would orient them to social cues of an interpersonal nature, that there were marked differences in the tracings of where was eye gaze during the course of a conversation or the watching of a social scene in a movie.

And these observations were recorded, documented, and exquisitely tracked by Ami Klin and Warren Jones, beginning during their time at Yale University and following their move to the Marcus Autism Center at Emory University in Children's Healthcare of Atlanta.

What transpired following these original experiments that showed this difference in the use of eye gaze, again, which was something that at first everybody thought, well, that's probably what we would expect because the eye gaze is off in individuals with autism.

But once the technology was established to trace eye gaze in that way, then the next series of experiments was to go back as early as possible in development, and to make a very long story, a long and very productive science story short, what was learned was that in babies who were born with a predisposition for autism and who in fact developed autism, these were babies who were the later-born siblings of individuals with autism, that starting in the second month of life, their patterns of orienting their eyes to the social features of a visual scene, to the eyes or mouth of characters in a video that they were watching in a laboratory, was distinctly changing in comparison to children who were typically developing.

And so, the babies who went on to develop autism, from two months through six months, through 18 months, through 36 months, were showing patterns of eye gaze towards standard video social scenes that place their eye gaze on more of the object features of those social scenes than on the features that would convey social information, such as eye looking mouth movements with talking and orienting to that visual scene.

This was a very robust finding that differentiated, even at that early age, children who were showing signs and were, well, even before they were showing signs, long before they were showing signs of autism, that the course of their use of eyes in orienting to social scenes was different.

Moreover, when that characteristic of orientation to social scenes was examined from a perspective of, well, what would be the potential causes of visual engagement or visual social disengagement?

What was learned was that the variations in orientation to the social aspects of a visual scene were almost completely driven by genetic factors, not only in children affected by autism, but in all children.

That the moment to moment orientation of eye gaze to the important social aspects of what they see, what they experience in the environment, was orchestrated exquisitely by genetic factors.

And because autism was not only a condition characterized by these atypicalities in eye gaze, but also known to be profoundly influenced by genetic variation, the implication of this work was that the genetic causes of autism might be operating through a mechanism of influencing children's eye gaze in a way that takes them off of the track of orienting to the most salient social aspects of what they're experiencing.

And the implication then that if this was the way that genetic liability for autism was playing itself out over the course of development, that there might be ways to adjust that to help reorient babies to the most salient aspects of the environment around them, and thereby render the genetic liability to autism less influential or less potent, or reduce any kind of severity of impairment by, from the very beginning, compensating for that and essentially enabling babies to take in more from the social visual environment than they would be otherwise doing naturally on the basis of their own genetic makeup.

- We know the importance of early diagnosis for a person with autism.

This type of approach could help with an even earlier diagnosis.

- Yeah.

- And intervention.

And could you talk a little bit about the types of intervention that can be helpful for people who have the diagnosis or seem to be at risk of having the diagnosis when they get a little bit older?

- Well, we're still learning about that, and there have been attempts both before the first symptoms start in children at risk on the basis of family members being affected by autism and also after the condition starts.

But amazingly, some of the most important and influential interventions involve those that increase a young child's capacity to sustain joint attention with a person that they're with in an intervention context.

One of the areas of focus for interventions that appear to have the highest level of developmental impact in improving the course of a child's outcome when they're affected by autism are behavioral interventions that, at the end of the day, motivate and reward young children to, let's call it, keep their eye on the ball of the most salient interpersonal aspects of what they're going through in a moment-to-moment, day-to-day context with someone who is caring for them.

And so it has been published that more of that kind of intervention, and this would fall under the rubric of applied behavior analysis-based intervention.

In other words, using behavioral techniques to help adjust what a young child would naturalistically do and move it more towards a higher level of engagement, communicative interchange with a caregiver, or an intervention person, a teacher.

And that the more time that is spent delivering that kind of intervention and engaging a young child in that supportive mode to optimize their joint attention and interaction, the better off those children are in the longer term.

And when I say better off, what that means is, very important indices of adaptation and outcome, even if the symptoms themselves of autism don't change.

So what I mean by that is that it may be that a child has a proneness to eye gaze aversion or visual disengagement.

It may be that a child has some continued difficulty with the fluidity of their communication or the rigidity of their thinking, but these kinds of interventions have outcomes that include improvement in overall capacity for language, their capacity for play and social interaction, the adaptation to academic school-type settings and their ability to learn.

All of these can be influenced by these kinds of interventions, as we currently understand their impact on children.

(thoughtful music) - We heard so much important information about autism today.

My conversation with Dr. John Constantino will continue on our next episode, please join me.

(thoughtful music) Do not suffer in silence, with help, there is hope.

(thoughtful 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.

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