Autism: Characteristics, Diagnosis, and Understanding

The prevalence of Autism Spectrum Disorder has nearly doubled in recent years, and the numbers are staggering: nearly 1 in every 59 children are diagnosed with autism in the United States alone. Yet, there are so many questions surrounding the complexity and increase in diagnoses of this condition that affects so many in such diverse ways. (Autism Speaks) How autism originates in the first place and its impact on communication, both verbal and nonverbal, are questions that need to be continually scrutinized in order to better accommodate those who are affected, and, in turn, educate those who interact with the disorder in the most meaningful ways..

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According to the Diagnostic and Statistical Manual of Mental Disorders (DSM-5), “people with Autism Spectrum Disorder have difficulty with communication and interaction with other people, restricted interests and repetitive behaviors, and symptoms that hurt the person’s ability to function properly in school, work, and other areas of life.” (National Institute of Mental Health) Although autistic characteristics can manifest themselves in so many different ways, concern surrounding communication reverberates as the trademark characteristic of ASD, with symptoms of the disorder, such as “difficulty with social communication and interaction, restricted interests, and repetitive behaviors” usually showing by the age of two or three. (Autism Speaks) For instance, a child might not understand how to work cooperatively in a group or look someone in the eye and make an introduction. Children with autism also often have trouble understanding the point of view of others, matching facial expression with what is being communicated, and having an “unusual tone of voice” that often sounds flat. (National Institute of Mental Health) Although symptoms of autism “must be present in the early developmental period,” often, understandably, many of these symptoms do not make themselves evident until a child is placed in situations that require more complex use of these skills, such as a school or another educational setting. (Autism Speaks)

In order to begin to delve into the impact of ASD symptoms on modes of communication, it is vital to understand the complexity and uncertainty around the anatomical origin of autism in the first place. While there is no known specific biological cause, one of the strongest cases is for a genetic link, with “research suggest[ing] that genes can act together with influences from the environment to affect development in ways that lead to ASD.” (National Institute of Mental Health) This, in turn, influences how neurons, the specialized cells that are responsible for transmitting nerve signals, “connect and communicate with each other in the brain.” (Bhandari, Tamara) In reference to this statement, a study conducted at The University of Washington School of Medicine in St. Louis found that rats that lacked the gene absent in many of those with ASD in turn displayed an overabundance of connections between brain neurons, and this, in turn, influenced their basic ability to learn (Bhandari, Tamara). According to Azad Bonni, the head of the Department of Neuroscience at Washington, “This study raises the possibility that there may be too many synapses in the brains of patients with Autism.” (Bhandari, Tamara) According to Bonni, this overabundance of synapses and “miscommunication among neurons in the developing brain, correlates with impairments in learning, although we don’t know how.” (Bhandari, Tamara) There are six genes, called ‘ubiquitin ligases,’ which “attach a molecular tag called ubiquitin to proteins” at the focus of this study. (Bhandari, Tamara) These genes tell the brain which proteins should be kept and which should be thrown out. The same study looked specifically at one of these six genes: RNF8, the gene that is believed to mutate in those with ASD. This gene was removed from neurons in the cerebellum of mice, and “researchers found that neurons that lacked the RNF8 protein formed about 50 percent more synapses than those with the gene.” (Bhandari, Tamara) Although the mice walked normally, associated with motor function of the cerebellum, they were unable to learn new motor movements, a key symptom of ASD. Those with autism often display difficulty building social skills and simple skills like eye contact, bouncing a ball, or gauging how much energy to exert when lifting or pushing. (National Institute of Mental Health) The mice without an RNF8 gene were also unable to pick up a basic new skill, learning to close their eyes when a puff of air was blown at them: closing their eyes only ? of the time compared to those with a functioning gene closing their eyes ? of the time, a delayed and misunderstood reaction. (Bhandari, Tamara) Those with autism often can’t focus on one task for too long, or become consumed with a task, such as trying to put a puzzle together or sort objects. The study also reverberates the importance of the cerebellum “in higher cognitive functions such as language and attention, both of which are affected in autism.” (Bhandari, Tamara) While it would be thought that an increase in neural connections would increase brain function, it actually leads to a repetitive and remediated nature of thought and action. Two trademarks of Autism are language delays and intense attachment to specific objects, both of which directly correlate with some lack of higher level thinking skills. (Bhandari, Tamara)

Another study at Columbia University Medical Center adds more meaning to these findings, by associating this overabundance of synapses in the brain with a “slowdown in a normal pruning process during development.” (Gudsnuk, Kathryn, et al) Normally, “a burst of synapse formation occurs in infancy, particularly in the cortex, a region involved in autistic behaviors.” (Gudsnuk, Kathryn, et al) Normally, pruning takes out about half of the synapses, but, in the study, which looked at brains of those with autism who died from another cause, the pruning process had not done its job to the extent that it does in most brain cortexes. (Gudsnuk, Kathryn, et al) While this is just a correlation between a few studies, the new light it is shedding on brain formation and ASD is vital.

It is also worth examining the function of the superior temporal sulcus in those with autism, which controls processing of visual information, and its role in “inability to interpret body language, facial expression, and gestures.” (Driver, Janine) Those with ASD often mistake gestures or do not realize the significance of what body language is communicating. This symptom of ASD was put to the test in research conducted by the University of Durham in 2009. The study presented autistic individuals with cartoon pictures showing specific emotions (happy, sad, angry), directions, and gestures without the use of faces or language.The participants had to rely solely on body language, such as skipping or clapping to come to a conclusion about how the figure was feeling. The study concluded that “participants had a tremendously difficult time reading the emotion and/or deciphering the direction of movement,” which is believed to be related to the gene mutation referenced earlier which directly affects social ability. (Driver, Janine) According to Janine Driver, a contributor to Psychology Today, “These individuals are unable to decipher the communication cues bombarding them; resulting in not only a diminished capacity to properly communicate their wants to others, but an inability to feel empathy or socially relate to those around them.” (Driver, Janine) It doesn’t necessarily mean that they aren’t feeling, they are just unable to show it the way most people do. For example, during a pep rally, a student with ASD may misassociate cheering and noise as scary sounds, rather than excitement and become nervous. There isn’t a same mechanism present for decoding these sensory signals and reacting accordingly.

There is also a spectrum in relation to what communication capability children with autism have. Some students are able to learn vocabulary related to things that are meaningful to them very quickly, while others may struggle. According to The National Institute on Deafness and Other Communication Disorders, language development can be uneven, with some children being “able to read words before age five, but not comprehend[ing] what they have read.” (The National Institute of Deafness and Other Communication Disorders) Others may not even be able to respond to their names or basic speech. Children with autism may also repeat back questions that are asked to them or “repeat words heard at an earlier time.” (NIDCD) Without being able to properly comprehend body language and form higher level thoughts, it can often be difficult to carry on conversations.

Another study conducted by Dr. David Matsumoto interestingly examined body language of Olympic athletes. He saw a trend in how these people reacted to feeling certain emotions. While this doesn’t seem revolutionary, some of his subjects were blind, and yet still responded with basic physical movements and gestures representational of the emotion they were feeling. He therefore came to the conclusion that “it is reasonable to conclude that many of the behaviors, gestures and expressions we use to convey our feelings are deeply imbedded in our distinctly human code.” (Driver, Janine) This provides evidence that although there may be environmental risk factors for developing ASD, a genetic link cannot be ignored.

While autism is not exclusionary to a specific race, gender, or socioeconomic class, there are some possible environmental risk factors associated with ASD, such as having a sibling with the disorder or older parents, having certain genetic conditions such as Down Syndrome, and a very low weight at birth. (National Institute of Mental Health) Some risk factors have also been debated more than others. According to Autism Speaks, “prenatal exposure to the chemicals thalidomide and valproic acid has been linked to increased risk of autism.” (Autism Speaks) Other possible environmental factors include deadly viruses or infections, such as rubella, and childhood immunizations. While none of these risk factors are completely inclusionary of those with Autism, many factors alongside observation of behavior are used in diagnosing ASD.

After taking into account some of the possible biological causes and environmental risk factors associated with autism, it is also important to acknowledge a more individualized aspect of ASD: the environment that is created around the individual. As a special education teacher, I witness, everyday, the effects that educational and social influences can have on those with ASD and their communication skills. I have one student, in particular, who reminds me every day that genetics don’t paint the entire picture of what he is capable of. He is a freshman in high school, nonverbal, and speaks in only short phrases, characteristic of ASD, and often speaks in a repetitive nature. This is called echolalia, and is a “repeating of words or phrases.”(National Institute of Mental Health) If his social worker is coming after school, I usually hear about it intermittently throughout the entire day: it’s what he’s thinking about. Another trademark characteristic of Autism that he exhibits is a narrow scope of topic and interest, but, nevertheless, there’s a brain process going on there. We affirm his thinking because it gives us a window into what is going on inside his head, and he is often excited when something he says is repeated back to him or if someone makes a connection to a movie he references. At the beginning of the year, he knew where Wisconsin was on a map. We learned two states every day, and he now knows forty-three states and counting and can put a map of the United States together by memory. I am reminded everyday that although his brain processes may be inhibited and limited, the science says so, and he he can’t have conversations with the depth that most can, there are a lot of processes occuring in his head, and I need to be cognizant of that. He has an amazing memory: almost photographic in some ways. He, and so may others, are capable of learning and thinking for themselves, we just need to give them the avenues to do so within their abilities. Autism Spectrum Disorder does not fit a specific mold, and small victories look different for every child.

This specific student comes from a home of extremely low socioeconomic status, and I have reason to believe that most of his interaction and opportunity to communicate comes from interaction with social workers and school personnel. I have seen, first hand, how surrounding a child with caregivers and teachers who support a child with ASD in positive and meaningful ways can make all the difference in the student’s ability to be emotive and communicate.

Students make a concentrated effort to interact with my freshman student with autism. They play sports with him and give him high-fives in the hallway. He will often laugh when someone says something he thinks is funny and he can point to objects he wants or doesn’t want. He can communicate, as basic as the interactions may be, he just has to be given the opportunity to do so.

I witness everyday the bombardment of stimuli he tries to take in on a daily basis. He often covers his ears during lunch if there are too many discussions going on around him. He used to scream. I learn more every day about what it means to accommodate a student with ASD. Early intervention, creating a loving and supporting environment, and providing opportunities to communicate using an array of available modes, including talkboards, pictures, flashcards etc., are vital in supporting someone with ASD in and out of the classroom. One method of interaction, coined by Melanie Nind and Dave Hewett, authors of “Access to Communication,” is called Intensive Interaction. This practice “makes use of the range of interactive games that have been shown to occur in interactions between infants and their primary caregivers.” (Nind, Melanie & Hewett, Dave) It takes into account the gap in basic ability to communicate present in those affected by ASD, and “incorporate[s] interactive play into…daily routines in school.” (Nind, Melanie & Hewett, Dave) One example that is given is using changing clothes, or “dressing situations,” such as putting on a jacket and boots, often a “non-personal and stressful routine” into a playful game, allowing for a more meaningful connection. (Nind, Melanie & Hewett, Dave) This connection allows the student the opportunity to respond in a non-risk environment, creating a more enjoyable experience. Nind and Hewett found that, by using what they call “free-flowing interactive play,” that was integrated into a daily schedule, they were able to better gain the attention of the students and allow them opportunities to express themselves. I see, everyday, the importance of showing my students with autism that although they may not be able to completely express their emotions to me, I validate them and can still reciprocate the emotions I know they are feeling. It is important to be adaptable, modifying tasks, jobs, and communication modes so that they are accessible.

The student I referenced earlier was, for the first time, given a talk board app loaded onto an iPad this year. I watched his face light up as he was able to use technology, something he loves, to point to movies he likes and to talk about or foods he is making in class that day. The words are repeated back to him through headphones. I have to remind myself on a daily basis to give him my all, because he deserves it. I don’t think, even with all of the research out there, that there is any replacement for that dedication.  

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