On the Spectrum: Understanding the Nature of Autism

In the fast moving car, the young doctor doesn’t waste time. He seems to be unaware of the speed he and fellow hospital resident, Claire, are traveling at in the backseat and slips on a pair of gloves. Only he knows something is wrong — he only needs to find a small spot on the MRI film in order to tell. Ignoring Claire and the driver, he reaches into the large container sitting between them and studies what looks to be a raw steak wrapped in plastic, feeling the flesh with his eyes closed. “I can feel it! The scans show no clot, but there is a clot!” He’s delicately working his hands over a human liver as he speaks — and only the doctor himself, Shaun Murphy, knows that the live organ will be useless before they reach the hospital — unless he and Claire begin to operate immediately on the side of the road, and flush out the organ’s left lobe.


The unfolding drama is part of the new series “The Good Doctor,” which premiered this fall on ABC. The protagonist, played by Freddie Highmore, is a gifted surgeon — seemingly a prodigy as he is decades younger than many of his peers, but quietly suffers from autism. It may seem at once unusual to find a character like Shaun Murphy in an occupation of this nature, and refreshing to see a character on the spectrum portrayed in a good light — but it leaves many viewers wondering if such a person could exist in real life. However, the idea that people who suffer with autism are capable of honing complex skills and talents is slowly prevailing. What sets someone like Murphy apart from the rest of us?

The information technology business Auticon has employed 15 consultants — all of whom suffer from varying degrees of autism — and were given their jobs following long periods of unemployment. The company’s founder, Dirk Müller-Remus, is a former software developer whose son was diagnosed with Asperger’s syndrome, a high-functioning form of autism. Müller-Remus’ son had a difficult time finding employment, something that many people with spectrum disorders often have trouble with. Müller-Remus also knew that people like his son had an array of traits that made them unique: being able to focus on a single task for extended intervals of time, and a sharp eye for patterns and systems. Little is known about the disorder itself, but Auticon’s horizon looks fairly bright. Just last year, the German-based company opened offices in London and Paris, with the hopes of employing 100 consultants from such high-profile clients such as GlaxoSmithKline and Experian.

Their U.K. CEO, Ray Coyle, is a former lawyer and IT specialist who has long been a supporter of Müller-Remus’ mission. “Some of the most loyal, capable, and dedicated employees I’ve had have been on the autism spectrum,” says Coyle. Coyle even goes so far as to describe his employees with the term “neurodiversity” — appreciating the fact that there is a myriad of ways in which the human brain can be wired. “We’ve got to be really careful with the language we use: we don’t want to give people the impression that all autistic people are IT geniuses, or that there are not neurotypical [nonautistic] people who can do all of these things,” he says. “But in the right role, and with the right support, an autistic person will significantly outperform a neurotypical person doing the same job. If you’ve got a team of people on a project, and they’re all neurotypical, and your project encounters a problem, the chances are that those 20 people will all come up with the same kind of answer. Bring in someone with a totally different cognitive process and a completely different perspective, and they’ll come up with something different. And that’s invaluable.”

For a disorder not fully understood by experts, it would seem that Auticon is making some great strides in helping people who struggle with the disorder. Müller-Remus’ son is among 37.2 million people worldwide that suffer from Asperger’s syndrome. The number of people worldwide affected with autism is estimated to be 62.2 million, and the precise cause is not yet understood. However, over the last several years, researchers have identified a number of risk factors closely associated with the prevalence and severity of symptoms.

Genetic factors are thought to play a factor — and studies consistently show that degrees of autism are between 15 and 30 times more common in the siblings of autistic children than within the general population. Autism spectrum disorders (ASD) are also much more prevalent among identical twins than fraternal twins. Rather than isolating a singular gene, researchers suspect that several genes acting in a pattern may be responsible — that ASD may be the result of both brain enlargement in some portions of the brain while others are reduced. Because symptoms typically occur after the first year of age when the brain is developing, the neurons may not be distributed evenly throughout the brain. The frontal lobes of ASD patients, as well as the mirror neuron system, the limbic system, the temporal lobe, and the corpus callosum have all shown abnormalities.

The mirror neuron system of the brain is a pipeline of regions associated with processing empathy in humans. Located in the inferior frontal gyrus and the inferior parietal lobule, you activate this network when observing or imitating other people. It’s part of why we’re conditioned to cry at weddings and funerals. Irregularities in this region could explain why those higher on the ASD spectrum have trouble with recognizing emotions. The temporal lobe also consists of the superior temporal sulcus and the fusiform face area, which are also used to process facial expressions. ASD patients have even demonstrated lower activity in the temporal lobes during fMRI (functional magnetic resonance imaging) scans, as they were given faces to look at. Back in 2012, scientists formed a consensus on another possibility — that ASD is actually the result of trouble with connections between these regions and the way they function, rather than a problem with any specific one — that persons with ASD are simply wired differently.

Neuroscientist Ted Abel of the University of Iowa took another approach. He and his researchers chose to look at why ASD targets boys at four times the same rate as girls. A similar pattern of male bias is seen in other neurodevelopmental disorders, such as attention deficit hyperactivity disorder, and even language impairments. The researchers decided to look at a genetic deletion occurring in ASD patients — a copying variation that left out ERK1 (extracellular signal-regulated kinase 1), a signaling protein. Mice without the ERK1 failed to exhibit reward-seeking behavior — pulling levers for treats, for example. Female mice with the same deletion did not have trouble making the connection between rewards and the associated behaviors.

The study’s first author, Nicola Grissom, an assistant professor of psychology at the University of Minnesota, thinks they may be onto something: “These findings shed valuable new light on the science of neurodevelopmental disorders, many of which are more common in boys. However, they also address the broader question of how sex and gender influence the neurobiology of how we learn and behave, which may be involved in the different levels of risk between women and men for developing many other neuropsychiatric conditions, as well.”

Male mice that lacked the ERK1 protein also had an increased expression of the D2 receptor, critical for picking up the brain’s reward chemical, dopamine. Females showed no difference in dopamine receptor D2 expression. The next step is to further investigate other autism-linked genes in mice, as the ERK1 disruption occurs in about 1 of every 200 ASD cases. One thing that seems consistent so far is that reward learning may be a key component of ASD cases. Dopamine is typically distributed in human relationships — when we interact with friends, significant others, or even have conversations online with strangers — but when the reward circuitry is blocked, this no longer occurs, and could be a primary reason that persons with ASD, particularly in extreme cases, do not socialize.


Abel is optimistic moving forward: “We have begun to identify what may be an underlying reason why neurodevelopmental disorders predominantly affect boys, and that involves the function of the striatum and reward learning. This has implications for how we think about the underlying behavioral differences in autism, and implications for how we develop both behavioral or pharmacological therapies to improve the lives of those with autism.”

This article was originally published in the Winter 2018 issue of Brain World Magazine.


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