Rethinking Autism: Cognitive Implications of Autism Spectrum Disorder
Danielle Murri
University of Colorado, Colorado Springs
Author Note
Danielle Murri, Anthropology Department, University of Colorado, Colorado Springs.
Correspondence regarding this article should be addressed to Danielle Murri, Anthropology Department, University of Colorado, Colorado Springs, 1420 Austin Bluffs Parkway, Colorado Springs, CO. E-mail: daniellemurri@gmail.com
Abstract
This paper focuses on how brain development disorders such as autism are defined, diagnosed, and analyzed as far as the development and potential causes of ASD (specifically classic autism). Differing cognitive perspectives such as lacking theory of mind, dysfunctional mirror neuron systems, and the intense world syndrome are also examined and challenged.
Keywords: Autism Spectrum Disorders (ASD), Theory of Mind (ToM), Mirror Neuron System (MNS), Intense World Syndrome
Autism Spectrum Disorders are a complex grouping of disorders in brain development. These disorders are diagnosed and categorized by difficulties communicating both verbally and nonverbally, troubles with social interaction, and repetitive behaviors. There are different levels of severity indicating levels of functionality; this is often described as the autism spectrum. Under recent changes with The Diagnostic and Statistical Manual of Mental Disorders, version 5 (DSM-5), classic autistic disorder, Asperger syndrome, childhood disintegrative disorder, pervasive developmental disorder not otherwise specified (PDD-NOS), and social pragmatic communication disorder are all now grouped under one diagnostic umbrella of Autism Spectrum Disorder (ASD).
Diagnostic criteria for ASD focus on persistent difficulties in the social use of communication and social interaction which can be identified by deficits in using communication in a social context, for instance, trouble with introductions or sharing information, impairments in being able to change conversations based on the context of a situation, difficulties following basic conversation rules like rephrasing when information is misunderstood, difficulties understanding non explicit language (e.g., idioms, humor, metaphors, making inferences), taking turns listening and speaking, and using or understanding both verbal and nonverbal signals to maintain a proper conversation flow. Deficits in nonverbal communication used for social interaction like poor body language and eye contact are also examined.
Psychologists and psychiatrists will also use criteria evaluating functional limitations that exist as a result of ineffective communication, lack of social participation or difficulties in creating, maintaining, and understanding relationships such as in academic achievement and occupational performance. Limitations may also exist due to other symptoms exhibited by those affected with ASD like repetitive patterns of behavior, interests, or activities which may include repetitive motor movements, use of objects, or speech, insistence on routines and rituals, highly restricted interests that are abnormal in focus and intensity, and hyper or hypo reactivity to sensory aspects of the environment. A key factor in the diagnosis of ASD is that symptoms must be present in the early developmental period (under three years of age), although these symptoms may have been masked by learned coping mechanisms or strategies or may not become evident until social demands coax them out. The symptoms of ASD must be considered severe enough to cause significant impairment in social or occupational areas of life (American Psychiatric Association, 2013).
According to the U.S. Centers for Disease Control and Prevention (CDC), approximately one in sixty-eight children are classified as being on the autism spectrum. Currently there is no medical cure or fetal detection for autism, although research is being done on potential biological and environmental causes and influences on autism as well as on types of therapy to improve social outcomes. Resources and increasing amounts of information are also becoming available for parents to recognize the signs of developmental disorders, in the hope for early diagnoses. While there is no known solitary reason for which autism develops, there is substantial evidence as to how autism affects an individual both biologically with genetic abnormalities and anatomical changes within the brain, and also externally in social contexts due to the abnormalities in cognition and communication.
Knowing that autism is a disorder in brain development, it is imperative that biology and genetic factors be examined in the cause for autism. Through the late 1960’s many researchers, including child psychiatrist Leo Kanner, believed that environment and ,in fact, the level of warm heartedness between parents and children was a leading factor in the cause for autism, despite innate biological roots. Within the past few decades, however, substantial research has been done, examining the major role of genes in the development of ASD. It has been established that autism is a polygenetic disorder, and the genes responsible most likely begin malfunctioning at an early developmental stage. Finding the genes responsible for autism has been a rapidly growing area of research. Many gene variations found among people with autism are relatively rare mutations involving protein-making genes that are critical in holding synapses together. These mutations are known as copy number variations (CNVs), which are sections of DNA sequences over a hundreds of bases that are missing or duplicated. These sections may contain dozens of genes. Smoller (2008) states,
It is now clear that these rare duplications and deletions of DNA can be a cause of autism. As the evidence has accumulated, the emerging picture is one in which genes involved in the development of the brain are deleted, disrupted, or duplicated. These include genes involved in how neurons find their place in the brain, the formation of synapses, and the balance of excitatory and inhibitory connections-all fundamental players in how brain circuits get wired up (163).
According to Lende and Downey (2012), a specific etiology for autism has yet to be agreed on, however the ways in which ASD affect the brain are greatly accepted. On a neurobiological level, evidence suggests that ASD affects the cerebellum, superior temporal sulcus, medial temporal lobe, and frontal lobe. Some researchers have even tried to document brain abnormalities in terms of size. In numerous studies, autistic children’s heads and brains are larger than average, specifically in the frontal lobe which is involved in social and linguistic behaviors (Seung, 2012, p.19). Seung (2012) believes that not only is brain size a possible indicator for the development of ASD, the rate of brain growth is abnormal in autistic children. In order for this theory to be conclusively proven, developmental abnormalities and consistent neuropathology in the womb or infancy would have to be extensively examined (p.111). Researchers also have tried many times to connect behavioral aspects of ASD with specific regions of the brain, but evidence has pointed more towards the deficits in brain connectivity and the defects in brain developing genes. Lende and Downey (2012) state, “Behavioral deficits in autism may not emerge from abnormalities in particular brain regions, but rather, from decreased connectivity between them” (293).
Given that genes being deleted, duplicated, or disrupted from DNA sequences are highly involved in the process of brain development, one can expect the effects on the brain are extensive. Genetic research has also seen that many CNVs that can cause autism are also seen causing other brain development conditions like schizophrenia. A consequence to these genetic mutations in brain wiring may be dysfunction in the circuits necessary for the formation of theory of mind (ToM).
Ramachandran(2011), explains ToM as an innate, intuitive, yet sophisticated mental faculty. He says,
It refers to your ability to attribute intelligent mental beingness to other people: to understand that your fellow humans behave the way they do because (you assume) they have thoughts, emotions, ideas, and motivations of more or less the same kind as you yourself possess. In other words, even though you cannot actually feel what it is like to be another individual, you use your theory of mind to automatically project intentions, perceptions, and beliefs into the minds of others. In so doing you are able to infer their feelings and intentions and to predict and influence their behavior (138).
Or as Coolidge and Wynn state, “Most simply, ToM is knowing that other individuals have minds and beliefs and that these beliefs may differ from one’s own beliefs” (81).
It has been established that people on the autism spectrum lack this feature of modern social cognition. Those affected with autism have a difficult time reading emotions of others as well as perceiving thoughts in other individuals and do not have the concept of shared attention, one of the basic components of theory of mind. Studies have been done with brain imaging on autistic subjects to find that there is altered function in theory of mind areas (Smoller, 2008). Theory of mind and shared attention are believed to be due the mirror neuron system. “It is thought that the mirror neuron system, in both humans and non-human primates, is involved in understanding the intentions of others, including grasping objects and other goals and in imitating others…” (Coolidge & Wynn, 2009, p. 201).
The mirror neuron system (MNS) is distributed in regions of the frontal and parietal cortex. As it is already known that the frontal brain is affected by ASD, some use this information to conclude that the mirror neuron system must not be functioning properly in those with ASD. Ramachandran (2011) explains that observations of changes in brain size do not explain the characteristic symptoms of autism. He proposes that in order to explain ASD, neural structures in the brain whose functions line up with autism symptoms need to be examined. He suggests that mirror neurons are the answer
They (mirror neurons) provided the missing physiological basis for certain high-level abilities that had long been challenging for neuroscientists to explain. We were struck by the fact that it is precisely these presumed functions of mirror neurons-such as empathy, intention reading, mimicry, pretend play, and language learning-that are dysfunctional in autism (p.140).
Ramachandran suggests that it seems reasonable to assume that the main cause of autism is a dysfunctional MNS, since this particular hypothesis has the advantage of explaining so many symptoms that appear unrelated in terms of a solitary cause.
Hickok (2014), refutes the “broken mirror” hypothesis, explaining that the MNS hypothesis is working on the assumption that since mirror neurons support the reading of emotions, understandings of intention, empathy, ToM, imitations, and language, and since all of these factors are impaired in ASD, autism can be traced back to deficits in the mirror neuron system. Hickok states that if mirror neurons don’t actually support any of these functions, then the whole broken mirror hypothesis is irrelevant. He also summarizes other arguments against the broken mirror hypothesis like that of cognitive neuroscientist, Antonia Hamilton. Hamilton argues that people with ASD don’t exhibit the behavioral profiles predicted by the broken mirror hypothesis. She performed experiments on autistic children in order to demonstrate action recognition ability. In a few studies with matching action pictures with pictures of hand postures, the autistic group outperformed the control group of no autistic individuals. Hamilton and psychologist Morton Ann Gernsbacher agree that these abilities should be impaired according to the broken mirror hypothesis. Gernsbacher says
[a number of studies] are unanimous in demonstrating that autistic individuals of all ages are perfectly able to understand the intentionality of their own actions and of other humans’ actions; there is neither ‘incapacity’ nor impairment in understanding of the intentions of actions (Hickok, 2014, p. 213).
Other arguments refute the broken mirror hypothesis on the grounds of imitation. There have been imitation tests performed with findings that autistic subjects were more than capable of associating perceive and executed actions and could perform unconscious mimicry. Hikock (2014) concludes his argument against broken mirrors by stating that the problem with autism research currently is that discussion is centered on ideas on what is wrong or lacking in autistic people, whether this mean that autistic people have no mirror neuron system, or lack theory of mind, or empathy, or way to process social information. All of these theories are founded on concepts of deficiency and dysfunction, when there should be more research on excess and hypersensitivity. He proposes that maybe those with ASD don’t live in a “socially numb world, but rather a socially intense world” (p.217).
The intense world syndrome is an interesting concept, rooted in animal models of autism currently, but inferences on hyper-responsivity leading to avoidance, is often noted in ASD individuals. Autistic individuals often become overwhelmed with surrounding sensory experiences and exhibit avoidance behaviors by covering their ears or eyes. Another possible indicator of this hypersensitivity is when autistic individuals seem to not read faces or emotion, they may be avoiding making eye contact, because processing facial emotion through the eyes is too intense (Hickok, 2014, p. 224 and Greenspan, 2004, p. 309).
Markram, et. al, (2007) also propose that the intense world syndrome could be a unifying hypothesis of autism where the primary neuropathology is excessive information processing and storing in local brain circuits which then causes hyper-functioning in the brain regions most commonly affected. This hyper-functioning may be responsible for the hyper-attention, hyper-memory, and hyper-perception seen in the autism spectrum. The spectrum can then be explained by how severely certain brain areas are affected and at which stages in development the brain might be evolving due to predisposing genes. Markram explains,
We propose that these super-charged microcircuits render aspects of the world painfully intense and aversive, and autism is therefore proposed as an Intense World Syndrome. We present recent molecular, cellular, synaptic, circuit, and behavioral evidence to support this new hypothesis and re-interpret the symptomology and pathology in the light of the proposed syndrome in which the world is aversively intense.
Yet another theory proposes that whatever the cause may be for autism, it is a disorder with deficits in self-understanding. Lende and Downey (2012), report that recent findings may suggest that people affected with ASD may not properly activate brain regions associated with self-reflection. Deficits in self-understanding may lead an autistic person to use cultural norms and scripts in order to develop a sense of self. They state
While these theories provide important insights into the core deficits of autism, by studying them in isolation we may lose sight of the autistic person’s experience…the present approach aims to provide a better understanding of the ways in which autistic persons orchestrate their unique set of strengths and weaknesses to provide meaning to themselves in the world (294).
After analyzing a significant amount of research for the topic on the development of ASD, I see that a major problem in developing a unifying theory of autism is the large number of variations of the disorder itself. I agree with multiple view points on the possible causation of autism and I relate specifically to quote above, and combine it with Hikock’s thoughts that maybe the subject of autism and even all brain development disorders should not be looked at as what is wrong or lacking, but what is different and for what reasons. I think that the diagnosis and stigma surrounding autism and the entire category of autistic spectrum disorders need to be rethought. I believe that people with ASD (especially those that are high functioning on the spectrum), given the right environment, can become more socially cognitive and can excel in certain settings. I believe there have been many assumptions made in the broken mirror hypothesis, and am wary about the idea of autistic individuals completely lacking theory of mind , since studies cannot conclusively say it is lacking due to the tasks generally used. These tasks cannot reliably establish autistic individuals from non autistic individuals. However, if the task lists were amended to provide more reliable information about a lacking theory of mind, then I would more readily accept this hypothesis. I also hope that more research will be done on the intense world theory, as it would be an interesting concept in determining causation for the development of autism, and the cognitive implications of autism as a form of cognitive evolution would be quite interesting.
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