Revolutionary New Way to Diagnose Autism Revealed

Repetitive behavior? It’s all relative. And new research from Bucknell University in Lewisburg, PA, illustrates that the repetitive behavior exhibited by parents themselves may hold the secret to determining what might be typical behavior for a developing child and what might be an early indicator of future developmental struggles.

Revolutionary New Way to Diagnose Autism Revealed https://www.autismparentingmagazine.com/new-way-diagnosing-autism

David Evans, professor of psychology at Bucknell University, and his colleague Mirko Uljarevic, a postdoctoral research fellow at La Trobe University in Melbourne, Australia, have devised a groundbreaking new way to diagnose autism spectrum disorder (ASD) and other developmental disorders.  The two researchers developed an inventory to survey parents and their children for the prevalence of repetitive behaviors, making it possible to diagnose children at a much younger age based on what’s normal for their families.

Evans and Uljarevic devised their new diagnostic tool because they found comparing a child’s behavior to what’s deemed “normal” for the general population to be an inaccurate measure. Parents’ behavior, they found, is a much more accurate barometer for what’s normal for their child. This is because disorders like autism have a strong genetic component, and so what’s not typical in one family might be perfectly normal in another.

Evans explained that “in order to understand what’s pathological, you need to understand what’s normal, not just in the general population, but within a family.” To illustrate the importance of this, Evans uses a genetic mutation (16p11.2 deletion syndrome) that causes intellectual disability and ASD in 25 percent of people who have the mutation. It turns out, however, that the other 75 percent of people with this mutation do exhibit some symptoms of ASD that simply aren’t obvious enough to result in diagnosis.

These people were missed largely because they were diagnosed in comparison to the general population, where an IQ of 100 is average and an IQ below 70 is considered a marker of intellectual disability. But their parents had IQs far above average. Evans explained that these other 75 percent deviated from a different norm than that of the general population. For them, an IQ around 130 would have been normal.  Comparing their IQ to that of their parents makes it clear that the genetic mutation did, in fact, affect them.

This is how Evans envisions the future of ASD diagnosis: parents are screened for genetic mutation(s) linked to autism and other developmental disorders, and those found to be carrying a mutation take the inventory. Then their child is monitored—before the child is even a year old—for signs of autism. As early as eight to nine months into that child’s life, parents could know with a high degree of certainty the likelihood of autism developing, and they can prepare to take the early steps for treatment that will vastly improve their child’s quality of life.

Here’s how the inventory works: parents answer questions about their own behavior, and then they answer similar questions about their child’s behavior.  For example, the inventory asks about bedtime rituals, restrictive eating habits, the tendency of a person to line up objects in a perfectly straight line, and several other repetitive behaviors. The results of this inventory make it possible to compare a child’s behavior to their parents’ behavior, a diagnostic tool that has never been available before. Evans and Uljarevic found a correlation between parents’ and their children’s behavior to be about .8—a very high correlation. That correlation held even when the parent reporting on the child was not the parent who exhibited repetitive behaviors themselves. For Evans, answering the question, “Is this child’s behavior consistent with the family environment or not?” offers a much stronger indication of the likelihood a child will develop ASD than jumping to conclusions based on a single repetitive behavior that could just be a passing phase.

So how do you decide what’s normal? As Evans put it: “It’s a question of degrees.” It’s understandable that a behavior that may be perfectly normal for a three-year-old is not normal for a sixteen-year-old. But Evans emphasized that “developing kids go through phases where they engage in strange behaviors that seem severe but are normal, like toddlers head banging to help themselves get to sleep.  A three-year-old child might have a really elaborate, time-consuming bedtime ritual that, if not done right, will prevent him from sleeping. That looks really weird, but it might actually be a perfectly normal phase they’re going through.”

Evans warned that oftentimes, parents express their concern over their child’s delay in development to a pediatrician, who will likely ask if the child exhibits any repetitive behaviors.  Most parents of a young child will answer that question with a ‘yes,’ because regardless of the pace of development, most children engage in some repetitive behaviors for at least a little while. Delayed speech combined with pickiness over how their sandwiches are cut does not necessarily point to a diagnosis of ASD, according to Evans. But that tends to be the way it’s done. Taking a closer look at that child’s parents’ behaviors would give doctors a much better picture of how things will progress.  Evans offered another example: “Lots of kids go through a phase that lasts around six weeks where they engage in forceful eye-blinking, like they’re slamming their eyes shut over and over. Some kids get over it, while others develop a tic disorder. By looking at parents’ behavior, we can predict which children will likely get over it and which may not.”

Another way to think about it is children’s play. Evans described a scenario of three children playing in a sandbox: “One of the kids isn’t playing with the others but is really focused on taking everyone’s cars and lining them up in a straight line. A kid doing that a couple of times might be normal. If it becomes a compulsion, it’s something that needs to be looked at. So in addition to family norms, it’s also about whether the behavior is interfering with other aspects of life—that should really be the gold standard. There’s a lot of quirkiness in life, but if a child can’t socialize anymore because they’re so entrenched in their behavior, then we’re no longer looking at a passing phase, but even then it’s a question of degree.”

There’s more good news here for parents, as well. Evans said, “These behaviors are very, very common and evenly distributed across the population because repetitive behaviors can actually serve an adaptive function. Like being tidy and on time: think of our world if we had no rituals—it would be chaotic.” The key advantage to this new diagnostic method, according to Evans, is that “we can use these measures to see a pattern across a lifetime and to see when traits are part of the family tree. This will make us better able to understand the difference between treating pathologies and medicating personality types.”

If this inventory becomes a standard component of diagnostic methods, we could become much better at identifying and treating mental health disorders in general. The inventory is predictive not just of ASD, but also of ADHD, bipolar disorder, schizophrenia, personality disorder, obsessive-compulsive disorders, tic disorders, depression, and anxiety.  Screening families could make it possible to intervene before a disorder ever manifests itself in an individual—an opportunity that could change lives.

Theresa Hoffmann is a freelance writer, a nature lover, and the proud owner of two cats. She holds an MA in English Literature with a Concentration in Writing, Technology, and Media Arts from Duquesne University in Pittsburgh, PA.

Bucknell University’s website
David Evans’ faculty profile
La Trobe University
Mirko Uljarevic’s faculty profile
Embedded link on 16p11.2 deletion syndrome

This article was featured in Issue 64 – Teaching the Skills Your ASD Child Needs

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