Kids' Wellness Matters Podcast Ep. 12: Understanding Autism

April 18, 2024

Autism is one of the most commonly known developmental disorders in children, but its symptoms aren’t always obvious. Usually beginning in early childhood, the signs of autism spectrum disorder can appear as difficulty in social communication but vary widely. In this episode, Joshua Ewen, MD, a pediatric neurologist and neurodevelopmental pediatrician at Ann & Robert H. Lurie Children's Hospital of Chicago, brings years of expertise to answer questions about diagnosis, therapies, and research, expanding awareness of the diversity of autism in children.

“It’s our understanding that the earlier autism interventions are implemented, the better we can ward off concerning aspects of the development of autism later in life.”

–Joshua Ewen, MD

Show Notes

Dr. Ewen’s interest in autism is both personal and intellectual. He grew up with learning disabilities himself and, as a neuroscientist, is fascinated by the brain’s role in behavior.
While autism is often referred to as a “spectrum,” Dr. Ewen also calls autism a “constellation” because of the diversity of its symptoms, sometimes even in the same child. The two basic criteria for an autism diagnosis are difficulties with social communication and restricted and repetitive behaviors (RRB) or interests. RRB also includes sensory sensitivity.
The average age of autism diagnosis is 4.7 years, which is not early enough according to Dr. Ewen. Early evaluation and therapies can reduce risks of mental illness and improve quality of life.
Dr. Ewen reports a shortage of developmental healthcare professionals for the millions of children at risk of autism and other developmental conditions. In response, the American Academy of Pediatrics has recommended increased autism awareness and training for general pediatricians.
For caretakers who notice possible signs of autism spectrum disorder in their kids, Dr. Ewen urges open communication with their healthcare providers.
Dr. Ewen stresses the importance of noticing psychiatric issues that may develop with autism. Treatments for ADHD, for example, can be “life-changing” for children and families, whether or not the patient has autism.
A major trend in autism research is improving distribution of resources and expertise. To address the shortage of developmental specialists, Dr. Ewen’s research aims to create a new EEG machine that electrically records the brain to help diagnose and predict outcomes for autism. Lurie Children’s is also expanding its capacity to serve more families in need of developmental and behavioral care.
In addition to psychiatric disorders that can occur with autism, a child with autism is at risk of other medical conditions such as sleep and eating issues. After 15 years holding a clinic for children with developmental disabilities and autism, Dr. Ewen has observed firsthand higher rates of epilepsy in children with autism.
At Lurie Children’s, care is always personalized for each patient. Families have access to a range of highly effective autism services, such as speech, occupational and behavioral therapies.

Transcript

[00:00:00] Nina Alfieri, MD: Welcome to Kids' Wellness Matters. I'm Dr. Nina Alfieri.

[00:00:07] Rob Sanchez. MD: And I'm Dr. Rob Sanchez. We are both parents and pediatricians at the world-renowned Ann and Robert H. Lurie Children's Hospital of Chicago.

[00:00:15] Nina Alfieri, MD: On this show, we'll chat with a wide range of experts about caring for children from newborn to young adult. Because Kids' Wellness Matters. Autism or autism spectrum disorder is a group of developmental diagnoses characterized by differences in communication and social interaction for children, and this typically begins in young childhood. The good news is that there are a lot of resources to support kids with autism and their families. We're so fortunate to have one of the leading experts in autism here today to explore the topic with us and to answer some questions about the symptoms, diagnosis and therapies available for children with autism spectrum disorders. Dr. Joshua Ewen is a pediatric neurologist, neurodevelopmental pediatrician and cognitive neuroscientist who is the head of the Division of Developmental and Behavioral Pediatrics at Ann and Robert H. Lurie Children's Hospital Chicago in the Department of Pediatrics at Northwestern University Feinberg School of Medicine. and we are so thrilled to have him here today. Thank you so much for being here.

[00:01:22] Joshua Ewen, MD: Thank you so much for having me and thank you so much for highlighting this important topic.

[00:01:26] Nina Alfieri, MD: First off, Dr. Ewen, and I know that you and I are colleagues, but we haven't yet had a chance to meet, so I thought I'd start with an icebreaker.

[00:01:33] Joshua Ewen, MD: By all means.

[00:01:34] Nina Alfieri, MD: I have many patients in my clinic who I deeply adore with autism spectrum disorder, and for me, what I love is seeing these children emerge with new skills and wins as they progress with the deep love of their family and helpful interventions, and it's just so fun to see their personality come out of their shell over the years. So I'm curious, for you, what drew you to work with this population and what do you enjoy about it?

[00:01:59] Joshua Ewen, MD: There's a combination of factors, but let me talk about two of them. The first one is personal, that I grew up with learning disabilities and had therapies of my own, and I think that sensitized me to issues that are faced by children and families who are affected by developmental disabilities, including autism. And when I was introduced to a program that was specifically targeted at helping children and families manage and deal with these issues, that was something that interested me greatly. And then the other part of it is a little bit more intellectual. So I'm a cognitive [neuroscientist] in addition to my clinical life. And I think the fascination with the brain and how the brain generates behavior and how it generates social interactions and language and interpersonal bonds has always been absolutely intellectually fascinating for me, and so I get to merge those two in my day job.

[00:02:53] Nina Alfieri, MD: That's so wonderful. And it's so clear that your passion and your background really shines through and fuels your work, and we're so grateful to have your expertise here today. So just in general about autism, almost everyone has heard of it. There's been a lot of new research in the last few years. We're learning a lot more about it. It's one of the more common developmental diagnoses that we see in pediatrics. We now think of it as autism on a spectrum rather than being one concrete diagnosis with, you know, two or three very firm symptoms. So can you talk a little bit more about the nuance of that? What are the range of symptoms we might see and what does the diagnosis actually mean?

[00:03:30] Joshua Ewen, MD: I love the fact that you use the term autism spectrum, and today people are expanding that a little bit to talk about the autism constellation. And the reason is "spectrum," to some, indicates a single dimension, that some individuals may exhibit more symptoms or a greater magnitude of those symptoms, other people may exhibit a smaller magnitude, but really along one dimension. What we're actually seeing, and this has been known, I think, among researchers, clinicians, families and educators really for decades, there are a lot of different features of autism. I will quote an important autism researcher and advocate who has said in a way that everybody in the field would agree with, When you've met one person with autism, you've met one person with autism, meaning that the presentations are so variable. So now when we talk about diagnostic criteria, there are two major categories. The first one is what I think everybody would associate first with autism, and that's differences in social communication. But as I alluded to, that can manifest in a very broad range of ways, right? You can have people who are very interested in establishing friendships but may have some difficulties in terms of syncing up with other people; people who may have difficulties with conversations, where turn taking, the usual give and take, shifting the topic of conversation based on one's conversational partners, expressed interests, those sorts of things may be difficult. And then you may have people who really, that we can tell, exhibit no interest in social interactions to any extent, or who appear to be anxious or want to flee social interactions. And if you were to meet all of the people that I've just described, you'd have a very different vibe about the personalities or the presentations of those individuals.

[00:05:21] Nina Alfieri, MD: Interesting.

[00:05:21] Joshua Ewen, MD: Some people may also have difficulties with typical language, the use of words, the use of gestures, body language, facial expressions and so on. That's all the first criterion, the social communication. The second criterion is referred to as restriction of repetitive behaviors and interests. And this also is a very diverse category. Some people may know about rocking and flapping, what we refer to as stereotypies, and these can exist for a variety of different reasons. They can occur when somebody is particularly bored or somebody is particularly excited or somebody is particularly overwhelmed. Also, having a specific interest in a particular topic, above and beyond how most children or most individuals might have their own particular interests, locked in to such an extent that there's great challenge breaking away from that to engage with other topics. The category of restricted and repetitive behaviors and interests, which I'll probably refer to as RRB, also includes sensory hypersensitivity, So just like I'm wearing headphones, sometimes you will see individuals on the autism spectrum or within the autism constellation wearing noise-canceling headphones because public places or other places that are very loud, vacuum cleaners and so on may be overstimulating. The Philadelphia Eagles mascot was wearing noise-canceling headphones to bring awareness to autism as they were approaching the Super Bowl a year or two ago.

[00:06:49] Nina Alfieri, MD: That's beautiful. I didn't, I didn't know that.

[00:06:51] Joshua Ewen, MD: Yeah, yeah, yeah, that was very intentional and a wonderful platform to bring additional awareness. On the other hand, parents may become very concerned about sensory under-reactivity. Some individuals with autism, can have significant injuries, broken bones and not even respond to it. And the paradox of this,is that often this over-responsiveness and under-responsiveness exists within the same individual. And these sensory symptoms are one of the things that cause the greatest limitation of participation in the community and the greatest distress to people with autism and people in their communities and families who care about them. So that's RRB. Those are the two major categories that we would use for diagnosis. There are also differences in motor function, by that I mean the ability to do physical activities, gestures, imitation; in perception, how we perceive the world, whether we're focused on the parts, for example, individual features within a face versus the gestalt or the whole of the face; and so on. Obviously there are affective or mood differences, manifesting very commonly in anxiety and attentional differences that can be diagnosed as ADHD.

[00:08:02] Nina Alfieri, MD: This is very helpful. And I really,I like how you allude to this rather than being a flat spectrum as more of a multidimensional group of features, because I do think it's really important to consider the child as a whole person and really think about each of these domains. And that's why it's so important to have the parents' perspective too because they spend the most time with the child, and really understanding how they do in all of these very nuanced situations can help with the diagnosis. What age is autism typically diagnosed, and how is it diagnosed in clinic and in the medical world?

[00:08:35] Joshua Ewen, MD: So the brief answer is it's diagnosed too late. I just became aware of a study recently that said the average age of diagnosis is 4.7 years.

[00:08:44] Nina Alfieri, MD: I saw that study too. It's alarming.

[00:08:46] Joshua Ewen, MD: Yes, and the reason underlying that, of course, is that we know that early interventions can be effective, and it's our belief or understanding that the earlier those interventions are implemented, the better that we can ward off concerning aspects of the development of autism later in life. And so you asked about how it's diagnosed. As you're probably aware, there aren't enough developmental pediatricians, neuro-developmentalists, child psychiatrists, psychologists and others in the country to even get close to the scale of care that we need for the number of children who are affected by autism, affected by other conditions which may mimic autism at certain stages of life. There are 25 million children in the U.S. at the moment who are not at risk for autism per se but have developmental concerns that could be assessed by a developmental pediatrician. And there are less than 800 developmental pediatricians in the country to fulfill that need. So one of the things that the American Academy of Pediatrics has been putting forth is how we can make general pediatricians much more capable at performing autism evaluations, evaluations for other developmental disabilities and safely understanding when a particular child's picture presentation may require more sub-specialized expertise from the people who do this all day, every day. The evaluation really goes by criteria from a set of guidelines or a book called DSM, Diagnostic and Statistical Manual, and those are the two criteria, social and communication, and RRB that I mentioned a little bit earlier. And even with all the testing, it really comes down to a clinician's judgment. But some of the things that we can use to enhance the information that a clinician would get are various diagnostic tools that have been standardized, which are not in themselves the final word and shouldn't be used as the final word, but should be used as a set of prompts to help the clinician make the diagnosis according to the criteria. Those include things like the ADOS, Autism Diagnostic Observation [Schedule], which is the most intense of these, that provides the child opportunities to have certain types of social interactions, like playing with a baby or chatting with the examiner about their pets and that sort of thing. And that gives the child the opportunity to display certain behaviors. And those behaviors may be helpful for the clinician in making the diagnosis.

[00:11:14] Nina Alfieri, MD: Behavioral specialists. I think this is a really important place for us as a society to advocate to increase the access for families so that families can get answers and children can get therapies as early as possible. And that's something I'm sure you and I are both going to keep saying throughout this entire episode: Early therapies are so important.

[00:11:33] Joshua Ewen, MD: Without a doubt.

[00:11:34] Nina Alfieri, MD: You talked a little bit about how children diagnosed with autism could possibly develop other issues like anxiety, ADHD. Why is it important to identify these as well? And what do you recommend in terms of how families can navigate those diagnoses when they're starting to notice some of those symptoms?

[00:11:51] Joshua Ewen, MD: Open communication is absolutely key, with whatever practitioner they see, whether it's their general pediatrician or nurse practitioner or PA. We love our advanced practitioners. They do a fantastic job both in primary care and subspecialties. I think that there is a little bit of history that we should recognize when we talk about this, and that is under previous versions of diagnostic criteria, things like ADHD were considered mutually exclusive with autism, meaning if you met criteria for an autism diagnosis, you wouldn't also get an ADHD diagnosis. It's really substantive because I think it changed the thinking of the field to say, there's no benefit to treating ADHD symptoms that are occurring in somebody with autism. And I can tell you, when I was at a previous institution, I had a clinic for children, all of whom had autism but also had either ADHD or anxiety. And the same treatments that we used for ADHD in somebody who's non-autistic also can be life-changing for children and families who are experiencing ADHD in the context of autism. And so that's medication and behavioral interventions. And, in my clinical experience, the response to these medications really has the same impact whether you have autism or whether you don't.

[00:13:10] Nina Alfieri, MD: And I think what's really reassuring about that story is that we have really excellent treatments for anxiety and ADHD that are very accessible to families. And so I, I really like your message to bring up concerns to your pediatrician or your practitioner, so that we can start to address this because there's a lot of treatment for this and this could really help a child flourish and blossom in their confidence in school and in social interactions. I'd like to talk a little bit about the cause of autism. I know the answer is that we don't exactly know.

[00:13:39] Joshua Ewen, MD: Yes.

[00:13:39] Nina Alfieri, MD: But give us some background.

[00:13:41] Joshua Ewen, MD: You can't see autism on an MRI and you can't see autism on the skin. There's such overlap with things that we might call personality, things that we might call, mood, things that we might talk about in the sense of the variety of what it means to be human. We believe that 81 percent of the variation in whether somebody will or won't have an autism diagnosis is based on genetics.

[00:14:09] Nina Alfieri, MD: The Centers for Disease Control and Prevention, recently has reported on an increase in the diagnoses or the prevalence of autism in children, reporting that around one every 36 children has the condition. So why are the numbers increasing?

[00:14:24] Joshua Ewen, MD: I think there's greater awareness. Autism is perhaps being diagnosed in children who have developmental conditions that we might have called previously by another name.So how we label these conditions is part of that answer. Some children who would have been called quirky or have unusual interests at an earlier era are now being diagnosed medically, and there are positives to that and there are negatives to that.

[00:14:50] Nina Alfieri, MD: That's good to know. In the short time that you and I have had the pleasure of getting to know each other, one thing I know we really agree on is the importance of personalized treatment. There's a lot of different therapy modalities and treatments we can do. Can you just touch on, in a broad sense, what's the toolbox we have to help children with autism and their families?

[00:15:08] Joshua Ewen, MD: Our treatment plan is based on areas of friction between the individual and the environment, whether that's the family environment, the school environment, or the broader community, and just troubleshooting ways that we can assist in reducing that friction. Many days, it feels like the majority of what I do is I go into exam room number one, and I talk with the family and the family says, you know, Dr. Ewen, we had this challenge and then we figured out if only we could do XYZ, that would really help. And I say that's great. Walk out of that room, walk into the next room, family says, you know, Dr. Ewen, what we're really struggling with is such and such. And I say, well, you know what we should do?

[00:15:50] Nina Alfieri, MD: (laughs)

[00:15:50] Joshua Ewen, MD: We should—yeah. So much of my day really involves taking the wisdom that's been hard-fought and hard-won by one family and just passing it along to another family.

[00:16:02] Nina Alfieri, MD: I love that sentiment and it's something I experience every day in the office because parents are so and caregivers are so ingenious at coming up with fixes. Hearing the story of one family can help another family. Shout out to all the parents and caregivers who,by the time we have an appointment together, have come up with something that would never have been in a textbook or in wherever we learn what we learn in medicine. You know, you're at the forefront of cutting -edge research and modalities. What are the new therapies or research on the horizon that could transform the lives of people in this community? Where are we going?

[00:16:39] Joshua Ewen, MD: Lots of the things that we're doing within our clinics at Lurie Children's have to do with building capacity so that we can see more families. Some of the work that I've been interested in has to do with biomarkers, so using technology like EEG, that's electrical recording wires placed on the head to record brain activity, and figuring out how that can help us in diagnosis, how that can help us in predicting outcomes, how that will help us in getting ahead of the needs that might come up for the individual patient. And I love that you keep on coming back to that because it's the heart of what we do. The nice thing about technology is, to some extent, it's easier and less expensive to produce a new EEG machine than it is to produce clinicians who have a high degree of expertise in the care of people with autism. And, if we can make sure that those machines tell us what we want them to tell us, then we might be able to produce them and distribute them a lot more quickly, more efficiently, more effectively across the country and across the world than we could individuals who have a high degree of specialization and expertise. So I really think if you had to summarize a major trend in autism research, it's how to distribute the things that we know that can be helpful to as many kids and families who need them.

[00:17:59] Nina Alfieri, MD: Walk me through some of the therapy modalities that might be helpful.

[00:18:04] Joshua Ewen, MD: This is very customized based on the needs of the children, but in broad terms I can say that many children will benefit from speech language therapy. Even within speech language, it's very customized. There are some children with autism who are very, very verbal and very capable of using words to communicate their needs and information, and so they may need speech therapy to help with things like how to get inference in language, how to get the subtleties of what somebody means that may not be immediately apparent. Other children with autism may have problems with the size of their vocabulary, with their ability to construct sentences versus using one word at a time, and so the speech language therapy is going to be titrated to those goals. Other children may have no use of verbal language or none that we can understand, and so assistive and adaptive communication and technology in terms of using PECS, a picture exchange system where pictures are used, for example, to show the child what their schedule is going to be for the day and help them keep track, in a way that's comforting to them, or using a tablet to be able to point to pictures that will then generate a sound that will help the caregiver, family member, the teacher communicating. Children with autism often have problems with motor skills, the ability to do physical movements and actions, and occupational therapy can help with that. Occupational therapy can also help sometimes for children who have over-responsiveness or under-responsiveness to sensory stimuli and help desensitize them in certain cases to the feeling of clothing against their skin, things they will experience but are challenges for them. Behavioral therapy can be used to address certain behaviors, whether those are social behaviors or, in a limited but important number of cases, self-injurious behaviors or aggressive behaviors. Social skills groups can be used for children to help certain aspects of social communication, you know, how you respond to other children, how you listen to other children and their needs, how you find an effective way to meet your own needs within the context of a social interaction, how to build relationships and friendships. I'm sure you as a parent are, perhaps even subconsciously, doing that with your own children. But different children, those who we might call neurotypical or typically developing, may be able to internalize those lessons more quickly and with less effort than children diagnosed with autism. So sometimes giving extra training and more explicit instruction can be an effective way to build those skills, so that the child over time will have less risk for loneliness, less risk for depression, and be able to self-actualize and meet their own social needs.

[00:21:06] Nina Alfieri, MD: It's great to know that those resources are available. What are some educational interventions or supports that can be offered by schools to families?

[00:21:14] Joshua Ewen, MD: So some of the therapies that I just mentioned occur within the context of schools, through an individualized educational plan or IEP, sometimes within what's called a 504 plan, which is related but has a lesser scope of services. Of course, the school is only responsible for providing those interventions when it can be shown that the child's needs affect their education, when it is believed that providing those therapies will contribute positively to their education. That means that sometimes things that affect a child's social life or other aspects of their family life but don't affect their educational progress need to be taken care of in a clinical setting or in a private setting outside of the school. As we noted, children with autism may have other diagnoses as well and have a higher rate than somebody who's not diagnosed with autism. And this can include the full range of ADHD, specific learning disabilities, intellectual disability, language disorders, developmental language disorders. And so the interventions for all of those cognitive aspects will be similar to or a tweaked version of the interventions that we would recommend for a child with intellectual disability or specific learning disabilities or a language disorder who does not also have autism.

[00:22:35] Nina Alfieri, MD: We talked a little bit about psychiatric diagnoses that may co-occur, including anxiety and ADHD. Are there any other issues that you see in the population of children with an autism diagnosis?

[00:22:47] Joshua Ewen, MD: By all means. Some of the things that are most concerning to families aren't the diagnostic symptoms of autism, meaning the social communicative aspects or the RRB. Some of the things that most concern families, are most disruptive to daily life, have the biggest medical risk. And I should say that these are the things that, often, people with autism who can self-advocate and communicate their own needs highlight as well. So beyond the psychiatric issues that you mentioned, and we could probably dedicate a podcast to suicidality within autism, because that's a very important topic, but some of the other issues that we should really think about are the sleep issues, epilepsy, feeding issues and other gastrointestinal issues. Gastrointestinal issues may involve constipation, and so a pediatrician will be well-positioned to be able to help families. Sleep issues can be trickier. There may be behavioral issues around sleep, and parents of children who don't have autism certainly know how important sleep is both to the functioning of the child as well as to the parents. These issues around sleep can be much more severe in individuals with autism. We could talk about them in terms of insomnia. And so things that families already do to help their child with a sleep schedule need to be implemented, in many more cases, systematically, rigorously, in children with autism: having consistent bedtime, helping the child unwind before bed, prepare them for bed. Children with autism, many of them need a much higher degree of structure than other children do on average. And so providing that structure in the bedtime, around bedtime, is critically important. In some cases, medication is effective and is something that we would need to talk about after behavioral techniques that the parent is able to do at home have really proven not to be up to the task. Epilepsy and autism is something that we could also have a much longer conversation about. I spent almost 15 years holding a clinic for children with developmental disabilities and epilepsy. And we know that the rates of epilepsy are much higher in children with autism, on average. The presentation and discerning what's a seizure and what's a behavior that's more associated with their autism diagnosis in some cases can be challenging even to experienced epilepsy specialists who don't see lots of patients with autism. Performing the EEGs, the electrical recordings of the brain, may be more difficult because children with autism have sensory issues that may make it much more irritating for them to have the electrodes, even though they're very gently applied. That is something that we're concerned about, both trying to figure out whether it's a seizure or some other behavior, finding the right treatment, because in patients with certainly more severe epilepsy we know that appropriate treatment can reduce mortality that's associated with the epilepsy itself. Feeding issues may be very concerning. Those same sensory issues that I keep on coming back to may manifest as sensory issues around the texture of food, or the taste of food or the variability in how the food tastes and feels from day to day. And feeding somebody is one of the great ways that we show somebody that we care about them. And when children with autism have a hard time accepting the food that's being offered by parents, that can be viscerally horrible to the parents who are affected and also can create a risk for decreased nutrition. And so having access to services that include gastroenterologists, nutritionists and behavioral therapists who can help the child become more adapted to and desensitized to a range of foods can be very helpful for promoting great nutrition and also promoting the social bond that occurs around parents feeding their children.

[00:26:46] Nina Alfieri, MD: As a general pediatrician myself, and I'm sure you share this mentality, parents know their child the best. They spend so much time with their child. Parents and caregivers are the ultimate advocates and they really see the day in, day out, of the child. And so I just want to make a plug for parents. If you're hearing this podcast and you're thinking to yourself, I have developmental concerns about my child, talk to your pediatrician, talk to your care provider. Don't wait until the next well check appointment. We're here for you. And there's resources. We talked about there being a little bit of a long wait to get to developmental behavioral pediatrics appointments. We're definitely working on that, but even more important than receiving a diagnosis is getting into therapies quickly. In every state, there's some form of early intervention or early therapies accessible to families. And your pediatrician is going to be your best starting point in terms of jumping in and getting an evaluation and getting some therapy. I also just want to thank you so, so much, Dr. Ewen, for all of your expertise

[00:27:47] Joshua Ewen, MD: Thank you so much for highlighting this important topic.

[00:27:50] Rob Sanchez. MD: Thanks for listening to Kids' Wellness Matters.

[00:27:54] Nina Alfieri, MD: For more information on this episode and all things kids' wellness, please visit LurieChildrens.org.