Interview: How autism is diagnosed—and how symptoms vary across the spectrum

Note: This interview was originally published in Doing Well, a health news outlet from ASU Media Enterprise and ASU Learning Enterprise. Subscribe to Doing Well to get interviews with health experts delivered to your inbox weekly.

By Mel Moore

Autism—or the clinical term, autism spectrum disorder—is a developmental condition that is associated with difficulties in communication, sensory sensitivities, and routine repetitive behaviors. Autism exists on a spectrum, which means that people’s experiences with the condition and the way their symptoms present vary widely, from dealing with mild social challenges to requiring significant support.

While strides in research and social awareness have improved the experiences of people affected by autism, stigma and misunderstandings about the condition are still commonplace. I spoke with Dr. Joshua Anbar, an assistant professor at ASU’s College of Health Solutions who oversees the Arizona Developmental Disabilities Surveillance Program, which monitors autism prevalence and reports data back to the Centers for Disease Control and Prevention (CDC). We discussed how autism presents differently among individuals, what we know about its causes, and what therapeutic resources are available for people with autism. Our conversation has been edited for length and clarity.

Some terms used in this interview may be new to you. Before we dive in, here are some basic definitions:

Neurotypical: This term describes someone whose brain functions as is expected by societal norms. A neurotypical individual would not exhibit signs of autism, ADHD, or other mental or developmental conditions. Some prefer the term “neuro-conforming.”

Neurodivergent: This term is used to describe an individual whose brain has developed or works differently. Although not an official medical diagnosis, this word is used as a more inclusive way to identify mental differences. Mental differences can encompass many conditions, so the term “neurodivergent” functions as an umbrella that can include official diagnoses like autism spectrum disorder, ADHD, OCD, dyslexia, and PTSD, among many others.

Allistic: This term is used to describe people who are not on the autism spectrum. People who are allistic can still be some form of neurodivergent.

Mel Moore: How do symptoms of autism vary across the spectrum?

Joshua Anbar: Symptoms of autism vary tremendously across the spectrum. There's a saying in the autism community that when you've met one person with autism, you have met one person with autism. And that's very true.

Prior to 2013, when the term autism spectrum disorder [became] a formal diagnosis, there were originally three diagnoses that were predominantly associated with autism: Asperger's syndrome, autistic disorder, and pervasive developmental disorder not otherwise specified. Those labels very loosely corresponded with functionality. So people typically saw Asperger's syndrome as being “high functioning” whereas pervasive developmental disorder not otherwise specified was considered very profoundly autistic. Those that have mild symptom presentation, they may be tired by social interactions easily; they may have social communication challenges, meaning that they can communicate quite eloquently, but they don't process nonverbal communication as well as a neurotypical individual—somebody who does not have autism or other developmental or behavioral health conditions.

As you proceed through the spectrum of autism, you would have increasing challenges. Insistence on sameness and insistence on routine is a hallmark of autism across the spectrum, from the mildest end of the spectrum to the most severe end of the spectrum. It's not just a child [who] wakes up at the same time every day; any deviation from routine can create a lot of anxiety.

Autism is a very complex health condition in the sense that it can present differently for different people—what we call a heterogeneous condition.

MM: How is autism typically diagnosed?

JA: First, we do not have a blood test for autism—how we diagnose autism is based off of observation. We use the autism diagnostic observation schedule. There are various interviews with parents, family members, caregivers, guardians, teachers, grandparents, the whole gamut—they're asked questions about a child's adaptive functioning skills, a child's ability to deal with sensory challenges and with social challenges. All of this information is compiled together, and then a clinician renders a diagnosis. That's how we identify autism.

Most importantly, the features of autism need to be consistent and present throughout somebody's life. They can't just arise and then disappear in the middle of somebody's life; whether we're evaluating somebody at 6 years old or 60 years old, there needs to be a level of consistency. There are a lot of genes that are associated with autism; we don’t understand the interplay between genes and the environment.

MM: Research shows boys are more likely to be diagnosed with autism than girls. Why might that be?

JA: For a long time, for every one girl who was diagnosed with autism, you would expect four boys to be diagnosed with autism. In recent years, we've started to see that disparity between boys and girls start to shrink in relatively appreciable ways.

There are significant differences in how autism presents in boys and girls. There's also emerging literature that suggests that girls, both in social hierarchies as well as individually, are better at masking certain behavioral traits and certain challenges in ways that boys cannot or do not do. And so because they're able to, for lack of a better term, “hide” various deficits, they're able to go undetected longer than boys are.

This is why we conduct public health surveillance. This is why we need to continue funding autism research. So we can understand: How does autism present?

MM: There's a lot of concern lately that autism diagnoses have increased. Why might that be?

JA: We don't know conclusively why the prevalence of autism has increased. We have seen in a variety of evidence-based studies that changing diagnostic practices [and] community awareness result in more diagnoses of autism. That doesn't mean that all of a sudden more people have autism today than 20 or 30 years ago. But we now have services and support available for people, so the stigma of autism has gone down over time, and people are more willing to be diagnosed or have their kids diagnosed. All of these factors play a role.

We also know that autism is associated with environmental exposures, and we know that genetics plays a tremendous role in autism. We don't understand the relationship between genetics and environmental exposures and autism; nothing has conclusively proven that there's a single environmental exposure that causes autism, just as there isn't a single gene that causes autism. It's a complex condition that ultimately has a variety of causes, and further research is required to really understand what is driving the increase in prevalence. Public health surveillance, as it currently exists, is not well equipped to answer the question [of] why that is happening, just that it is happening.

MM: What is the impact of stigma, and how can we reduce it?

JA: Not that long ago, autism was seen as a life-altering, life-changing event, not just for the child, but for the family as well. When children were diagnosed with autism 30 years ago, there wasn’t a lot of support and services. If a child was diagnosed with autism, the result could be institutionalization. As our understanding of autism has advanced over the last several decades, as we have developed various tools and resources to not only detect and diagnose autism, but to support people with autism after they've been diagnosed, we’ve found that the life-altering nature of a diagnosis of autism has changed. That doesn’t mean there won’t be challenges, and it depends on the nature of autism and how it presents, but we can handle it now in ways that we could not do several decades ago.

There has been a tremendous push to have autism be accepted in our communities. It's not a niche problem that exists on the fringes and on the margins of society, it is a variation on the human condition, and we've started to see society appreciate that. That doesn't mean there aren't still stigmas, but those stigmas have really changed over time, and that has allowed a level of acceptance that just did not exist.

MM: What resources are available for people with autism?

JA: The gold standard of clinical autism therapeutics is applied behavioral analysis. This is when a clinician will come into the life and home of somebody affected by autism, see what challenges are affecting them in their day-to-day lives, and then develop ways to help somebody deal with the challenges they are facing. It can get very individualized. Applied behavioral analysis is very, very intensive—it can go on for as many as 40 hours or more a week. And it's very expensive. But it's not the only therapy out there.

We have occupational therapy and physical therapy that help deal with sensory challenges and gross motor issues that co-occur with autism. We have education-based interventions such as special education and IEPs [individualized education programs]. We've also seen the innovation of new technologies. The iPad was a tremendous game-changer for the autism community. Prior to 2010-ish, text-to-speech technology was very niche. It was very clunky, it was expensive. Then, the iPad is introduced. It allowed people who, heretofore, did not have a voice to have a voice. We found that a lot of individuals with autism, even if they had limited or no verbal capability, did have a lot to say; they just did not have a method of communication that worked for them. Technology has given people with autism a way to interact with the world that they did not have before. Assistive communication technologies, augmented communication technologies—those are tremendous resources. Does every person with autism need that? No. But does it make a difference? Absolutely.

MM: Why is early intervention important?

JA: Early intervention is critically important because a lot of human development is occurring in those first few years of life. The earlier we provide support, the better the results will be for the individual affected by autism.

Part of intervening earlier means that we need to diagnose somebody early on. We have federally funded and mandated programs like the early intervention program, which provides support for children ages birth to 3. But oftentimes, you need to have serious, documented deficits—which can be difficult to do, especially when we're talking about a child who may be only a couple months old. While we have been able to reliably diagnose autism at 18 months to 2 years of age, the average age of diagnosis of autism is around 4 to 5. We have worked really hard to lower that average age of diagnosis, but it has stubbornly remained above 4 years of age over the last 20 years. And so that's an area where more work needs to be done in terms of raising awareness, making resources available, and having people who can diagnose autism in communities that need those diagnoses.

MM: What are some of the most common misconceptions about autism?

JA: Just because you don't have the ability to express yourself doesn't mean you don't have something to say. Individuals with autism absolutely can contribute to their own care, have opinions about what their needs actually are, and should be included in what interventions mean for them, both on an individual basis and from a public health and societal perspective.

Roughly 1 in 4 cases of autism can be considered “profound autism,” meaning that they require substantial support, and that there are a variety of significant challenges. But that also means that roughly 3 out of 4 individuals with autism do not qualify as being considered profoundly autistic.

MM: What is important for families and loved ones of people who have been diagnosed to understand?

JA: I think the most important thing for families of a child who's just been diagnosed with autism to understand is that your kid is still your kid. They are still the same kid they were when they walked into the doctor's office, as they are walking out of the doctor's office. Nothing has changed in that regard. If anything, you now have a label that doesn't just help you understand the challenges your child is facing, but helps others understand the challenges they're facing.

MM: What resources do you recommend for people who are supporting someone with autism?

JA: Here in the Phoenix area, we have the Autism Society of Greater Phoenix [and] the Southwest Autism Research and Resource Center. Look for local organizations. They're going to know the lay of the land, what services are available, who providers are. They may also have opportunities for individuals affected by autism to participate in developing new therapeutics, new pharmaceuticals, and new services—if that's something that you and your family are open to, you should pursue that. Getting involved with the autism community matters.

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