06. Diagnosing Autism w/ Dr. John Constantino: Tools to help pediatric primary care clinicians

*What if you could identify and diagnose autism in primary care, without having to wait years for children to be seen by a specialty autism center? 
 We discuss this with our guest, Dr. John N. Constantino, a world-renowned child and adolescent psychiatrist who specializes in Autism Spectrum Disorder who has done pioneering work in helping pediatric primary care clinicians distinguish between autism and other conditions.

How/can pediatric clinicians distinguish between autism and other conditions??

 Clinical tips to help pediatric clinicians confirm/make a diagnosis of Autism! 

3 anchors for Diagnostic Assessment of Autism

o   1 – Is the Developmental history c/w autism?

o   2 – Do the child’s symptoms exceed threshold (based on rating scales)?

·         Modified Checklist for Autism (M-CHAT; 16-30 months) or more comprehensive scales like..

·         Social Responsiveness Scale (SRS; 30 months – through adulthood)      

·        Social Communication Questionnaire (SCQ; for kids 4 years and older)

o   3 – Clinical observation by pediatric clinicians

·         Use the Childhood Autism Rating Scale (CARS and CARS-2)

·        quick (15 min), easy to learn, can differentiate autism from other illnesses ADHD, anxiety, psychosis, etc.

Differential diagnosis for 24 month old who is not talking (autism, Specific language impairment, Hearing impairment, Intellectual disability)
 
 About Dr. John Constantino: His research focuses on understanding genetic and environmental influences on autism spectrum disorder and their implications for treatment and prevention. He developed a well-validated, normed instrument to assess impairments in social-communication skills called the Social Responsiveness Scale (SRS-2). He currently serves as Chief of Behavioral and Mental Health at Children’s Hospital of Atlanta. He has been recognized for his work by numerous awards including the prestigious George Tarjan Award from the American Academy of Child and Adolescent Psychiatry for significant contributions  to the understanding and care of those with developmental disabilities.

Check out our website PsychEd4Peds.com for more resources.
Follow us on Instagram @psyched4peds

Transcript

Dr. Elise Fallucco: 0:21

Welcome back to PsychEd4Peds. I'm your host, Dr. Elise Fallucco child psychiatrist and mom. Today, we're going to be talking about autism spectrum disorder. Historically pediatric clinicians have referred kids who they think may have autism spectrum disorder to specialty centers for further evaluation. However it can take years before these children can be seen for formal evaluations. And during this time, children are missing the opportunity for early intervention missing and for autism specific therapies that could be helping them and their developing brains. Today on the podcast, we have an incredible expert nationally renowned in studying autism spectrum disorders who has been doing pioneering work in the area of supporting and empowering pediatric clinicians to be able to confirm. An expedite, a diagnosis of autism spectrum disorder in the primary care setting. Thus opening the opportunity for early interventions and early access to these much needed developmental therapies. Dr. John N Constantino is a world renowned child adolescent psychiatrist who specializes in autism spectrum disorder. His research, which is incredibly extensive and includes over 300 publications, is really focused on understanding genetic and environmental influences on these disorders of social development in childhood, and their implication for treatment and prevention. He has received numerous awards, and we could have a whole podcast on that, but one of the ones includes the prestigious George Tarjin Award from the American Academy of Child and Adolescent Psychiatry, for making significant contributions to the understanding and the care for children with developmental disabilities. He currently serves as Chief of Behavioral and Mental Health at Children's Hospital of Atlanta. I have had the pleasure of getting to train under his mentorship and guidance and to work as a very junior faculty member years and years ago in the division of Child and Adolescent Psychiatry back at Wash U in St. Louis. And I can tell you he is incredibly brilliant and lots of fun. So without further ado, let's welcome Dr. John Constantino.

Dr. Constantino: 2:34

Elise, thank you so much. It's an overwhelming introduction and it's great to be with you today.

Dr. Elise Fallucco: 2:38

I'm excited to pick your brain about autism. The American Academy of Peds says that pediatric clinicians should be screening, around 18 and 24 months for signs of autism spectrum disorder. But the big question becomes, what if somebody screens positive? We're at our 24 month old well visit and the pediatric clinician does an MCHAT and it comes out positive. They're concerned that this child is at high risk of having autism spectrum disorder or, and or other developmental disorder. What clinical questions should they ask and what should they look out for Sure. And confirm potentially that a positive screen could be the result of an autism diagnosis?

Dr. Constantino: 3:15

Actually ensuring or confirming the diagnosis shouldn't be as complicated or as delayed as it has historically been. The way I like to think of it is that across the board the anchors of diagnostic assessment for autism are three components. One is a developmental history that's consistent with autism. Two is an ascertainment of symptom burden that exceeds the diagnostic threshold for autism. And then the third is a clinician observation That clinician observation has to do something very important. It has to say, let's take the information from developmental history. And I'm gonna take the ascertain of symptom burden. That could be on a standardized rating scale that takes 15 minutes to fill out on a child. But what I'm gonna do as a clinician is I'm gonna take that information, I'm gonna observe the child, and I have to make a determination whether that is a closer fit to autism or is better explained by another condition. I think primary care physicians are most familiar with this in that 24 month age group, in trying to distinguish between diagnostic possibilities for a child who is not talking. But oftentimes for a two year old who's not talking, you're thinking Is it better explained by Autism, the fact that they're having a language delay? Or is it better explained by a specific language impairment by a hearing impairment or by intellectual disability alone without invoking autism? And most primary care physicians get more and more comfortable as they, practice over time with differentiating between those possibilities. But the point about this is that at that 24 month age, or at any age, again, get a developmental history, ascertain symptom burden. And if that ascertainment is above the threshold, now you are in the driver's seat as a clinician of saying, is this really about autism or is this secondary to something else?

Dr. Elise Fallucco: 5:16

You and your colleagues have piloted the use of a specific tool to help pediatric clinicians do just that and distinguish between autism and other conditions. Can you tell us a little bit about that?

Dr. Constantino: 5:28

What we have promoted and done for primary care physicians, is to use the uh, Childhood Autism[Sound] Scale, the CARS and the CARS2. We devised an implementation of the CARS-2, which can be really helpful to primary care physicians, because first of all, the CARS-2 is quick. It's easy to learn and even master's level clinicians can use it very capably. And the reason why is because the cars has these very descriptive scoring anchors that make it really easy to place a child where they fall on the continuum for key symptoms that relate to autism and key symptoms that differentiate autism from other conditions like A D H D, intellectual disability, psychosis anxiety, and so forth. So we often recommend that primary care physicians consider using the CARS-2. Take 15 minutes, observe this child in this kind of way, and then just fill out the CARS-2. And again, all of this is available and published, and it's a way to guide your own clinician observation. We did not develop the CARS-2. The CARS-2 has been around for ages, but it can be implemented by primary care physicians in a rapid way that can be very informative for that third anchor, which is what you're seeing more referable to autism or something else.

Dr. Elise Fallucco: 6:46

That sounds fantastic. Especially for those primary care clinicians who take care of a large population where they are seeing a lot of kids who flag positive, it would be so helpful to have somebody in their office or themselves be able to set up these 15 minute or 20 minute appointments to, to give the family more information. Especially because we know the alternative is that families are referred outside and it can take years to get, the formal ADOS

Dr. Constantino: 7:14

Right, Elise, great point. And we've staged these these observations virtually too. And they don't even have to be done by the primary care physician if they're willing to review them. So you can have, a master's level person in your program just prompting a child virtually, save the video and then look at it. Use that rating as a way of implementing this. And so for some of our, primary care physicians that are trying to take care of kids who are in remote locations or whatever, all this is implemented virtually. And all that's described in a paper that was published, I believe it was in 2020 in Developmental Medicine and Child Neurology, the technique for all of it is all, available in that article.

Dr. Elise Fallucco: 7:54

From my relationships with a lot of pediatric clinicians, what I often hear is they need tools. They need specific things to help them. And when you have a validated instrument, like the CARS-2, and you have other screening tools like you said, it does the work for you.

Dr. Constantino: 8:09

And the CARS-2 is very brief. The, you have to make a couple of runs through it to familiarize yourself with the scoring anchors. But it's an education unto itself. The scoring anchors are so descriptive of gradations and autism severity. I really recommend it to everybody. Just read through the actual scoring form and get a sense of, oh, these are the questions, these are the gradations. This is the threshold for, where this becomes a clinical level of symptomatology for a given manifestation that I might pick up in the office. There are now trainings available for primary care physicians to, diagnose autism and go through this process. One of the ways that is really has been very successful in disseminating knowledge about how to diagnose autism and do it in a timely fashion for primary care clinicians is the ECHO method. It's a virtual case- based learning where all teach all Learn. And there's lots of ways to get involved with Echo for autism. And if you just type echo autism into your search engine of your device, you will, it will, you'll find a pathway to becoming part of an echo autism community. They exist all over the world, literally. And, Can be started in a local community where a critical mass of clinicians that just aren't seeing fast enough conversion from suspicion to diagnosis, But I think this is within scope for primary care physicians. And let's face it the gold standard for the diagnosis of autism is clinician assessment. That's how we, that's how all the rating scales and all the diagnostic tools were anchored in the first place. We've gotten into this circular place where we're not relying on the clinician and the clinician anchored all the things that we have that supposedly are supposed to be better instruments for rating autism, but they all depend on clinician diagnosis.

Dr. Elise Fallucco: 10:02

That reminds me a little bit of ADHD. I've met with a lot of families who say, I wanna get my child tested for A D H D. And I'm thinking, it testing's great for ruling out possible learning disabilities and to, assess for IQ. But it's not that we have this magical diagnostic test that's gonna say you have ADHD and Correct.

Dr. Constantino: 10:23

It's actually a great addition to the conversation because I think a D H ADHD is a common, very familiar example, and people think that autism should be more precisely diagnosed or, that there needs to be some different kind of specialty assessment process surrounding it. And we do have some great tools, but again, those tools were all validated in the first place on clinician diagnosis. It's a very good point of comparison to talk about A D H D and to think about how you diagnose A D H D. You don't do it on the basis of a continuous performance task or a test of visual attention. You do on the basis of a clinician of a clinical diagnosis. And when you need help, you use the tools to help you.

Dr. Elise Fallucco: 11:06

Absolutely. So speaking of tools and rating scales and I know you may have a bias in this area, but are there any particular rating scales that you like

Dr. Constantino: 11:15

Yeah. I wouldn't call it bias. I would call it a downright conflict of interest, so I'm gonna be careful how we talk about it. Our laboratory developed the social responsiveness scale, and I do receive royalties for the commercial distribution of the social responsiveness scale. When we developed it back in the early two thousands, Autism was thought to be an all or nothing thing. You either had it or you didn't. And it was thought to be rare, but people were starting to see that it was cropping up as more common. And it was starting to become apparent that family members of individuals with autism also had autistic traits. We wanted to have an instrument that was well validated, it was normed, it was translated into foreign languages. It was relatively inexpensive. But there's other scales that are in all kinds of ways, comparable and equivalent. Elise, you mentioned the screener, the Modified Checklist for Autism in toddlers(MCHAT).

12:05

uh,

Dr. Constantino: 12:06

This is a very important tool, that we have for screening. The Social Communication Questionnaire(SCQ) is a developmental history scale that was modeled after the A D I R, the Autism Diagnostic Interview Revised. The social communication questionnaire is used for developmental history that's more detailed than what you would get on an MCHAT, and the age range is a little bit higher than what the MCHAT's age range is. So you have to age up a little bit into eligibility for using the social communication questionnaire. And it's not perfect, but it does a great job. There's lots of scales there. There's a instrument just for toddlers, the ESAT(Early Screening of Autistic Traits). There are all kinds of parent report scales and now more teacher report scales. Just like we do for A D H D we try to get different vantage points of observation to make sure that they agree with one another so that we're not getting biased by a child's behavior in a singular environmental context. These rating scales are rapid tools for primary care clinicians to deploy and not to even use their own time. Put the burden on the families or the teachers to ascertain what they're seeing in the natural environments that these children are residing in. And to your point about, primary care clinicians making these diagnoses, I think you're gonna share with your audience perhaps a couple of very recent references that really underscore the ability to do it and do it well, at least for most kids. And to know where that threshold is that when you're in doubt, of course, handoff the diagnosis to somebody who has a deeper level of experience and is in a discipline, whether neurology, psychiatry, developmental behavioral pediatrics or psychology that has lots of experience, with patients who are borderline cases.

13:49

It's,

Dr. Constantino: 13:50

It's a little harder for primary care clinicians to conclude that a suspected case is NOT autism than it is to say this child has all the signs and symptoms and we need to move them forward through the process of getting them the therapy that, that they need and the therapies that are available now. We have autism, specific developmental therapies that are effective. They improve adaptive functioning. They don't always Cut the core symptoms but demonstrated improvements in many aspects of adaptive functioning, including the capacity to communicate in a way that allow children to adapt socially and overcome the consequences of what that condition is, and, fulfill their own potential to adapt, relate, grow, learn, all of those things that are improved by developmental therapy.

Dr. Elise Fallucco: 14:41

Thank you so much, John. So before we close, I just want to briefly summarize, you're saying pediatric clinicians can use the three anchors to help them assess children for signs of autism. The first anchor has to do with reviewing whether the developmental history is consistent with autism. The second anchor. Is asking, do the child's symptoms exceed the threshold where we'd be worried about it, impairing their functioning. And you're suggesting they could use the M chat or more comprehensive rating scales, like the social responsiveness scale or the social communication questionnaire. To evaluate kids for symptom burden. And then finally the third anchor would be clinical observation. And your work has shown that pediatric clinicians can use the child autism rating scale or the CARS-2, to rate the child symptoms of autism. So for our listeners, if you want more information about these rating scales or about the study that Dr. Constantino's team did to help pediatric clinicians implement this in primary care. Please check out our website psyched4peds.com. Also follow us on social media at psyched for paeds and stay tuned next episode to continue the conversation with Dr. Constantino about the genetics of autism.