Senior Project Final Proposal
Shambhavi Mishra
10/26/16
Autism spectrum disorder (ASD) is a complex neurological and developmental disability that can cause social, communication and behavioral challenges. Understanding ASD is important as it can help educate families, patients and physicians about identifying and managing the disorder. According to the estimates from CDC's Autism and Developmental Disabilities Monitoring, about 1 in 68 children (1 in 42 boys and 1 in 189 girls) have been identified with Autism Spectrum Disorder. The prevalence (rate of occurrence) of autism has dramatically increased from five in every ten-thousand children (1990's) to one in every one-hundred and sixty-six children (2005). What has contributed to this staggering increase in ASD diagnosis? Many believe that an increase in public knowledge about ASD has caused the higher diagnosis, yet many people still do not receive the resources necessary for managing ASD throughout their lives. If people do not understand the diagnosis criteria and social implications of ASD, then they will be less likely to destigmatize and properly identify when professional intervention is needed. Ultimately, what can be done to improve the process of diagnosing and treating autism?
I wanted to research this topic because I am interested in psychiatry and the different ways mental disorders influence the environment and the families diagnosed with them, especially Autism which has a broad spectrum of disorders. Another reason why I’m interested in this topic is because autism research is so complex. Each case of ASD is different and changes as one ages and is exposed to more biological, environmental and instructional influences such as treatment or therapy.
I have previously written a paper on autism in my sophomore year where I researched the different causes, symptoms, diagnosis, the mental stigmatization around it and different ways of treating it. Through that research, I also learned about the spectrum Autism disorders are placed which has a wide range of symptoms, skills, and levels of functioning that vary depending on the person’s social and behavioral skills. I have also taken both AP Psychology and AP Biology which have helped expand my curiosity on this subject, while also introduced me to new subtopics such as epigenetics, I have also volunteered at the at the United Central Palsy in the summer and know parents with autistic children who have told me about the process and how they’ve approached the diagnosis of their child and carried out the treatment.
As previously stated, Autism is placed on a spectrum that varies between individuals. As a result, ASD is communicated in a way that varies between individuals; often leaving patients and families uneducated about the genetic and environmental foundations as well as about the skills that are necessary for managing the disorder. The term “spectrum” refers to the wide range of symptoms, skills, and levels of functioning that can occur in people with ASD. Some children and adults with ASD are able to perform all daily life tasks while others require some type of support.
The Diagnostic and Statistical Manual of Mental Disorders (DSM-5, published in 2013) includes Asperger syndrome, childhood disintegrative disorder, and pervasive developmental disorders as part of ASD rather than separate disorders ("DSM-5 Diagnostic Criteria." 1). A diagnosis of ASD includes an assessment of intellectual ability and language acquisition. Under the DSM-5, diagnosis of Autism requires a person to exhibit three deficits in social communication and at least two symptoms in the category of restricted range of activities/repetitive behaviors. In the second category, hyper reactivity to certain input or unusual reaction or interest in sensory aspects of the environment has been added as a new symptom ("DSM-5 Diagnostic Criteria" 1). The DSM-5 states that the onset of these symptoms occurs early during the developmental period (but deficits may not become fully manifest until social communication demands exceed limited capacities) and that these symptoms are not attributable to another medical or neurological condition or to low abilities in the domains or word structure and grammar, and are not better explained by autism spectrum disorder, intellectual disability (intellectual developmental disorder), global developmental delay, or another mental disorder ("DSM-5 Diagnostic Criteria" 1). In addition to this diagnosis, each person evaluated is also be described in terms of any known genetic cause (e.g. fragile X syndrome, Rett syndrome), level of language and intellectual disability and presence of medical conditions such as seizures, anxiety, depression, and/or gastrointestinal (GI) problems. ("DSM-5 Diagnostic Criteria" 1). Autism cannot simply be “cured”, but studies show that early diagnosis and treatment lead to significantly improved outcomes.
In terms of genetics, recent research has shown that de novo (spontaneous) gene mutations can influence the risk of developing ASD. De novo mutations are changes in sequences of DNA that occur in a parent’s sperm or egg cell or during fertilization as the cell divides. These mutations may affect single or multiple genes. Recent studies have shown that people with ASD tend to have more copies of de novo gene mutations, suggesting that the risk of developing ASD is not the result of mutations in individual genes but rather spontaneous coding mutations across many genes (“Fixing disabled Shank3 gene eases autism-like behaviors in adult mice”, 2016). De novo mutations may explain genetic disorders in which an affected child has the mutation in each cell but the parents do not and there is no family pattern to the disorder. Also, another genetic mutation that can cause ASD is a missing or defective SHANK3 gene. The SHANK3 gene provides instructions for making the SHANK3 protein that is found in the nervous system and plays a crucial role in the functioning of synapses. A mutation to SHANK3 may disrupt the communication between neurons, a primary cause of ASD symptoms such as repetitive behaviors, avoidance of social interaction, anxiety and difficulty with motor coordination. Around 1 percent of people with ASD lack a working copy of the SHANK3 gene.
The number of children diagnosed with ASD has grown tremendously over the past decade. According to a recent study done by The U.S. Centers for Disease Control and Prevention, which looked at data from different 14 communities, an estimated 1 in 88 children in the United States has been identified as having an Autism Spectrum Disorder, and it is five times more common in boys (1 in 54 boys identified). CDC reports also show that the estimated prevalence of autism among 8-year-olds in New Jersey rose in 2010 to nearly 22 children per thousand, or approximately one child in 45. T Zachary Warren, Ph.D., director of the Vanderbilt Kennedy Center's Treatment and Research Institute for Autism Spectrum Disorders at Vanderbilt University, says effective early identification and treatment of autism is a public health emergency. He states that because we are seeing autism in more than 1 percent of the population, it is going to be more challenging for healthcare systems to meet service needs. Studying ASD and the public understanding of the disorder remains pertinent for educating families, physicians and the public about identifying and managing the disorder.
For my final product, I will be conducting an experiment to test the hypothesis that a lower understanding of a ASD diagnosis leads to a more stigmatized view of the disorder and a more uncertain idea of how to proceed with management of the diagnosis. For the experiment, I will be conducting a survey that asks patients and their families different questions like have they heard of ASD? Do they know someone who is diagnosed or is on the spectrum? What does it mean to be on the spectrum? Do they think perceptions of a patient changes if they are given a name to their symptoms (such as ASD)? In the survey, I also plan to ask maybe people more aware of the diagnosis but unaware of symptoms how ASD can be managed and reasons why professional help is necessary. To make this survey as accurate as possible, I will also be conducting both library research and conducting outside interviews with patients and doctors. This will be done by shadowing doctors or therapists to see how effectively a diagnosis is communicated and how treatment is given to patients on the the spectrum.
As doctors and researchers have gotten better at diagnosing autism, the diagnosis rate has subsequently increased over time (Baio, 2012). Many argue that though the public awareness about ASD has increased, there is still a discrepancy between how a diagnosis is interpreted and carried out by patients and their families (Baio, 2012). If people do not fully understand the diagnosis criteria of ASD, then they will feel more stigmatized and perplexed by the intervention options offered. To test this hypothesis, a survey of the population will be conducted controlling for variables in age, race, and education level. The survey will require participants to read sample cases, answer questions regarding their knowledge of ASD and whether they are socially affiliated with an individual diagnosed with ASD.
In order to effectively create a survey, I will be conducting a lit review by looking at primary sources and library research to find different cases and accounts of individuals or experiments with people diagnosed with ASD. I will also be researching different genetic factors that could have caused the increase in autism diagnosis. I also plan to intern at a diagnosis center such as the The Autism Program at Phoenix Children's Hospital (a diagnostic clinic) which works with children with ASD and their families to implement effective learning and behavioral interventions that can help children improve symptoms to the best of their ability. Similar programs are also offered at the Southwest Autism Research & Resource Center and Autism Society of Greater Phoenix that have professionals who work with families to ensure effective care and communication. I plan to shadow under the doctors at these clinics or work with them to see how autism diagnosis is communicated between patients and their families, and potentially administer the survey there with the families. I also want to interview these families in the process and learn about how the diagnosis has affected their lives and what they believe can be done to improve the process.
A problem I could face is not finding enough people who are willing to take the survey or the the sample not being detailed enough to eliminate any potential bias or error could occur. Also, it is harder to find primary source texts such as the DSM-5 or research journals for the lit review portion of this project. Sometimes only abstracts are provided or a payment has to be made to view the whole text and that can be a disadvantage when trying to learn more about the genetic factors that influence ASD or the experiments done that validate a conception or theory.
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