Psychological and social aspects of developmental disabilities - autism
In recent years, the condition known as “autism” had gone through not only a name change to “autism spectrum disorder” or ASD, but also a great deal of research the result of which was a more accurate name for the collection of early-onset communication deficits and repetitive sensory-motor behaviors experienced by those who are diagnosed with it. ASD has a strong genetic component, but the research that has been done has given hope to many who have a loved one diagnosed with the disorder. At one time, people who were diagnosed with the most severe types of ASD—a diagnosis that lands toward the more severe end of the spectrum of conditions that make up the spectrum—had little hope of ever living a normal life. Now, more and more, people with ASD are able to live in society and enjoy a full life. A good example is Greta Thunberg, a Swedish teenager with Asperger’s Syndrome, one of the conditions towards the milder end of the ASD spectrum, who is an internationally recognized global climate change activist and who recently gave a speech at the United Nations. She refers to the Asperger’s Syndrome as her superpower. However, many people with ASD will never be able to work full time as an adult or to live independently. A considerable amount more research must be done to find a cure for ASD, but parents with children on the spectrum should not give up hope because ASD gained great recognition in recent years. A small group of celebrities perpetuated myths about how vaccines were the cause of ASD. While research has clearly refuted that idea, that research also led to a great deal more understanding about ASD and that has led to better treatments and renewed hope.
Famous people often speak out about political issues, which is fine because it is their right to express an opinion. It causes a problem though when a celebrity tries to claim scientific evidence for an assertion such as vaccines cause autism. According to the Center for Disease Control and Prevention, numerous studies have concluded that children with ASD did not receive greater volumes of materials from vaccines than children without ASD and none of the ingredients used in vaccines cause autism. “One vaccine ingredient that has been studied specifically is thimerosal, a mercury-based preservative used to prevent contamination of multidose vials of vaccines.. . . . Since 2003, there have been nine CDC-funded or conducted studies that have found no link between thimerosal-containing vaccines and ASD (CDC). While these studies have been made public and widely disseminated, the negative connotation that was affixed to vaccinations in regard to ASD has caused many parents to forego getting their children vaccinated. That resulted in the largest measles outbreak in many years during the late winter and spring of 2019. This is why celebrities who are not scientists should keep their scientific opinions to themselves. However, in this case, the attention the anti-vaxxer claims got benefited those with ASD.
The word and concept of “autism” was first coined by a German psychiatrist, Eugen Bleuler, in 1911. Bleuler used the word to describe a symptom of severe schizophrenia, another concept and word that he had created according to Bonnie Evans of the History of the Human Sciences. Bleuler said autistic thinking was characterized by the infantile avoidance of unsatisfying realities and the replacement of those realities with fantasies and hallucinations (Evans 2). This was the accepted use of the word, “autism,” through the 1950s. In the 1960s, child psychologists challenged these ideas and came up with new epidemiological studies that helped to validate child psychology as a science. “Autism” was reformulated to be a descriptive term for children with a specific type of disorder with characteristics completely the opposite of what Bleuler had said. By the 1970s, “autism” referred to the complete lack of unconscious symbolic life (Evans 2). Once autism was no longer associated with hallucinations and fantasy, researchers turned to the study of language to find the cognitive deficit that causes the symptoms of ASD. Eventually, researchers came to be in agreement that ASD was not caused by emotional reactions or hallucinates, but by a deficit in linguistic thought (Evans 17). As more research was done, scientists discovered that there was a range of severity and affect of the condition referred to as autism. Some researchers wanted to categorize the children who had these symptoms and effects on a continuum with children who do not have them in an attempt to avoid stigmatizing those with autism. This is how the concept of an autism spectrum came about. Those with no symptoms are at one end of it; those with severe symptoms are at the other end.
While ASD is a blanket term for a number of conditions, these conditions manifest themselves in very different ways in different individuals. However, they do have some core similarities related to social communication and repetitive sensory-motor behaviors. According to Catherine Lord, Mayada Elsabbagh, and Gillian Baird of The Lancet, these features occur across cultures, races, ethnicities and socioeconomic groups (Lord, Elsabbagh and Baird 508).These researchers explain that ASD is the result of “early altered brain development and neural reorganization;” however, because the biomarkers for the disorder have not yet been identified, the diagnosis of ASD can only be made on the basis of behavior (Lord, Elsabbagh and Baird 508). Sadly, the diagnosis usually occurs after parents notice something about their child is not right, and that usually occurs around the age of two.
The behaviors for the diagnosis of ASD are multiple and are revealed in a number of ways. The deficits in social communication and interaction include: those in social-emotional reciprocity such as a reduction in sharing of interests, emotions or affect; deficits in non-verbal communicative behaviors such as abnormal eye contact and body language; and, deficits in developing, maintaining and understanding relationships such as a difficulty in sharing or making friends. Other types of behavior issues associated with ASD fall under the restricted, repetitive patterns of behavior, interests and activities. They include: repetitive motor movements, use of objects and speech inconsistencies; insistence on routines, inflexibility, and ritualized patterns of verbal and non-verbal behavior; highly restricted, fixated interests that are abnormal and/or intense in focus; and, hyperactivity or hyporeactivity to sensory input or an unusual interest in sensory aspects of the environment, which can include indifference to pain or temperature (Lord, Elsabbagh and Baird 509). While these behaviors must be present in the early developmental period of a child’s life, they may not become fully manifest until the sensory input is more than the child’s capacity for such things is exceeded. These symptoms must cause clinically significant impairment to result in the diagnosis of ASD though. That is why the spectrum exists because some children only manifest mild symptoms.
ASD is probably more common than many think. According to CDC, ASD occurs in about 1 of every 59 children. However, it does not strike both sexes equally. It is about four times more common in boys than in girls (CDC). Studies done in Asia, Europe and North America show the prevalence of ASD to be between one and two percent. In the United States, about 1 in 6 children have a developmental disability that may fall along the autism spectrum (CDC). Even though a person may know six or more young children and believe that none of them are affected by ASD, at least one of them could be, but it may be mild and undetectable to someone who does not know the child well.
Risk factors for ASD have a strong genetic component. For instance, in sets of identical twins, if one twin has ASD, the other will be affected by the disorder between 36 and 95 percent of the time. In fraternal twins, if one child has ASD, the twin will be affected between 0 and 31% of the time. Parents with one child with ASD have a 2 to 18% chance of having another child affected by the disorder (CDC). Another genetic association occurs in people with certain genetic or chromosomal conditions. Ten percent of children who have ASD also have another condition such as Down syndrome, fragile X syndrome, tubular sclerosis or other genetic or chromosomal disorder. Also, about 44% of children diagnosed with ASD have above average intelligence (CDC). Other possible risk factors for ASD include children born to older parents, children born prematurely or with low birth weights. About 83% of the time, ASD occurs with at least one other developmental, psychiatric, neurologic, chromosomal or genetic disorder (CDC). While environment may affect some aspects of the prevalence of ASD, the genetic component is strong.
Recognizing the risk factors for ASD is important because it may mean an early diagnosis, which means earlier and perhaps more successful treatment for the child. Research done by Heather Hazlett, Hongbin Gu, Brent Munsell, et al. for Nature, showed that brain enlargement is a common trait of children with ASD, but it is not always easy to determine when the onset of the brain enlargement occurs and how it is related to the behavioral symptoms. “Retrospective head circumference and longitudinal brain volume studies of 2 year olds followed up at age 4 years, have provided evidence that increased brain volume may emerge early in development” (Hazlett, Gu and Munsell 2). This brain enlargement may be related to the onset of symptoms that parents often notice because it occurs around the time the parents of children diagnosed with ASD notice the characteristic social deficits of ASD, usually around the second year of life. “Brain volume overgrowth was linked to the emergence and severity of autistic social deficits. . . . These findings demonstrate that early brain changes unfold during the period in which autistic behaviors are first emerging (Hazlett, Gu and Munsell 2). Other studies have found other information strongly associating ASD with a genetic cause.
A great deal of research has also been done on finding the genes that carry the propensity for ASD. Ryan Yuen, Danielle Merico, Matt Bookman, et al. of Nature Neuroscience did research that “identified 18 new candidate genes for ASD or associated complications. Some of the newly detected mutations could reasonably be considered pathogenic and/or have possible implications for clinical management or genetic counselling for the subject or family members” (Yuen, Merico and Bookman 7). This means in the very near future, when a couple wants to procreate, they may be able to have genetic testing done that will warn them of the propensity that their future children may have toward ASD. Table 1 below shows a list of 14 ASD susceptibility genes with their corresponding functional groupings (Yuen, Merico and Bookman).
Another well-known person who has been diagnosed with ASD is Temple Grandin, a professor of animal science at Colorado State University. She was born in 1947. Nicola Wannenburg and Roelf van Niekerk of African Health Sciences explain that Grandin’s parents noticed developmental differences between their daughter and other children beginning when Grandin was about six months old. It became nearly impossible for people to hold her because she stiffened up and did not seek out affection. Grandin was diagnosed with what would be considered on the severe end of the autism spectrum today. Grandin’s mother got help from doctors, but not a lot was known about autism at the time. Some doctors suggested that Grandin be institutionalized, but her mother wanted to raise her at home, so she looked for different methods to get Grandin to interact with others. Some doctors frightened Grandin in their efforts to correct her behavior, which often consisted of screaming, spitting and humming when she wanted something. Her mother enrolled her in a school for developmentally delayed children that was run by a speech therapist, who taught Grandin how to communicate. She made enough progress that her parents moved her to the local elementary school and then in the main stream high school. Because she struggled academically and socially, she got into fights and was expelled from school, so her parents enrolled her in a small school for children with various disorders. Her teachers and her aunt were very patient and worked with her in a number of ways. She discovered art and animals and they helped her to cope. Her science teacher saw that she was at ease around animals and encouraged her to pursue that as a career field. Grandin developed cognitively and psychosocially to the point that she now lives autonomously, managed to get her Ph.D. in animal sciences, and works as an autism advocate. Her development was enabled by interventions to which she connected and that helped her to learn the abilities in which ASD causes deficits (Wannenburg and van Niekerk 138-139). The same types of interventions have been used on children since the 1950s with some success.
More interventions that work for children with ASD have been discovered or created since Grandin was young, but there are still a limited number of them. Anne Masi, Marileta DeMayo, Nicholas Glozier et al. of Neuroscience Bulletin explain that recent systematic reviews have found that children treated with medical interventions often do not realize any benefit from the treatment. Other studies reveal “the possibility that genetic, environmental, cognitive, and social heterogeneity in the ASD phenotype produce highly variable study samples which reduce the potential effect size of an intervention. Other factors contributing to the difficulties in identifying efficacious treatments include small sample sizes, the lack of significantly impaired study participants and the use of outcome measures that are not uniformly adopted or used as intended” (Masi, DeMayo and Glozier 188-189). Other types of interventions such as behavioral therapies are currently considered the best type of treatment for ASD. However, the evidence surrounding them is weak also. There are only two pharmaceutical treatments approved by the Food and Drug Administration (FDA) for ASD, risperidone and aripiprazole. These are prescribed for the treatment of symptoms associated with ASD such as irritability, aggression, deliberate self-injury, and tantrums in autistic children and adolescents. There ae significant side-effects associated with risperidone use though including weight gain, drowsiness, and increased levels of the hormone prolactin, which is produced by the pituitary gland and which can have a feminizing effect on both females and males (Masi, DeMayo and Glozier 189). Aripiprazole is also used for the treatment of irritability associated with ASD in children and adolescents. Side effects include sedation, fatigue, vomiting, increased appetite, somnolence, and tremor (Masi, DeMayo and Glozier 189). Both of these medications are anti-psychotic drugs and not really intended for the treatment of ASD.
Part of the difficulty of finding a treatment for ASD is the variety of people who have the disorder in varying severities. The studies done have a difficult time finding participants, which is also a cause of the lack of interventions. Another problem that confounds many researchers is the fact that people with ASD also have many comorbidities such as gastrointestinal issue that may affect the way a medication works, sleep disorders, epilepsy and several other issues that can affect the way a pharmaceutical intervention works Plus, a good understanding of the biological basis of ASD has not been reached. It is difficult to treat a disorder if one does not understand it.
Behavioral interventions seem more promising but few viable studies have been done that provide evidence for the success of these treatments. They also may be successful for some but not for others. That, again, may be due to the heterogeneity of study participants. If a greater diversity of people with ASD were enrolled in the studies, the findings may be more helpful for more people. Recently a two-dimensional approach has been taken to treating people with ASD such as both pharmaceutical and behavioral treatments combined. The range of behavioral treatments is large though, so two types of behavioral treatment may be considered multi-dimensional also. One change that may help is the shift in focus from subjective to objective indicators of response such as biomarkers, which scientists are still working to discover in the case of ASD (Masi, DeMayo and Glozier 189). Since at least 18 biomarkers have been discovered so far, science is well on its way to figuring out interventions for ASD that may change the type of interventions used.
Research of ASD is ongoing. Because of the attention that the celebrities and anti-vaxxers have brought to ASD more research has been done and discoveries made that have helped some people with ASD. While the claims that were made may have done damage to society because people did not get their children vaccinated, it did benefits those with ASD. It brought attention to the issue and has shown that people with ASD are not handicapped in any way. Greta Thunberg and Temple Grandin are excellent examples of how people who are diagnosed with ASD can still have meaningful and full lives.
Works Cited
CDC. "Data and Statistics on Autism Spectrum Disorder." 3 September 2019. Center for Disease Control and Prevention. Web. 7 October 2019. https://www.cdc.gov/ncbddd/aut....
—. "Vaccines do not cause Autism." 27 October 2015. Center for Disease Control and Prevention. Web. 7 October 2019. https://www.cdc.gov/vaccinesaf....
Evans, Bonnie. "How autism became autism: The radical transformation of a central concept of child development in Britain." History of the Human Sciences 26.3 (2013): 1-29. PMC. 7 October 2019. https://www.ncbi.nlm.nih.gov/p....
Hazlett, Heather Cody, et al. "Early brain development in infants at high risk for autism spectrum disorder." Nature 542.7641 (2017): 1-29. PMC. 7 October 2019. https://www.ncbi.nlm.nih.gov/p....
Lord, Catherine, et al. "Autism Spectrum Disorder." The Lancet 392 (2018): 508-520. Google Scholar. 7 October 2019. http://www.chinacmh.com/baobao....
Masi, Anne, et al. "An Overview of Autism Spectrum Disorder, Heterogeneity and Treatment Options." Neuroscience Bulletin 33.2 (2017): 183-193. Google Scholar. 7 October 2019. https://link.springer.com/cont....
Wannenburg, Nicola and Roelf van Niekerk. "Early diagnosis and intervention for autism spectrum disorder." African Health Sciences 18.1 (2018): 137-146. PMC. 7 October 2019. https://www.ncbi.nlm.nih.gov/p....
Yuen, R, et al. "Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder." Nature Neuroscience 20.4 (2017): 1-29. PMC. 7 October 2019. https://www.ncbi.nlm.nih.gov/p....
