CHAPTER 1
Historical Perspectives of Autism Spectrum Disorder

Learning Objectives

By reading this chapter, interventionists will be able to:

1. Compare and contrast diagnostic criteria for autism spectrum disorder (ASD) from the fourth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV) to the fifth edition (DSM-V).
2. Identify a reason why girls with autism may be overlooked in comparison to their male counterparts.
3. Define the neurodiversity movement and ableism.
4. Compare the medical and social model of disability.

Before You Begin, Think About These Questions

• What do I know about autism?
• How did I first learn about autism?
• What do I want to know about autism?

While criteria and descriptions have certainly evolved, ASD as we know it today is not vastly different from the way we knew it nearly 100?years ago when a psychiatrist, Leo Kanner, first wrote about his experiences with children with the disorder, all younger than age 11, beginning in 1938 (Kanner 1943). He published his longitudinal study as his counterpart Hans Asperger was writing of the same phenomenon, hence the former diagnostic term, "Asperger's Syndrome". His seminal paper titled "Autistic disturbances of affective contact" described his experiences of 11 cases of children. Similar to the gender disparity we see today, Kanner included more boys than girls in his study.

As Kanner's study title suggests, the primary impairment of those children was social engagement, as all the children demonstrated deficits in key social domains including functional play skills and reciprocal social interaction. One case describes a child who "always worked and played alone" with "no manifestation of friendliness or interest in persons" and "no display of affection." The descriptions clearly outline social communication deficits, in spite of typical IQ scores.

Cases often described various restricted and repetitive behaviors, a hallmark feature of ASD. Though written in 1943, descriptions could be included in diagnostic reports of the present day. For example, one case included the descriptions "stereotyped movements," "repetitions carried out in exactly the same way," and "verbal rituals," which all could be used to describe common restricted and repetitive behaviors observed in individuals with ASD today.

What are the diagnostic categories for autism? In past years, a formal diagnosis according to the DSM-IV had to involve three distinct categories:

• Impairments in social interactions
• Impairments in communication
• Restricted, repetitive, and/or stereotyped patterns of behavior
• Interests, and/or activities (Table 1.1).

TABLE 1.1 DSM IV categories used in the formal diagnosis of ASD

• Marked impairment in the use of multiple nonverbal behaviors, such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction.
• Failure to develop peer relationships appropriate to developmental level.
• A lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g. by a lack of showing, bringing, or pointing out objects of interest).
• Lack of social or emotional reciprocity.

• Delay in, or total lack of, the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime).
• In individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others.
• Stereotyped and repetitive use of language or idiosyncratic language.
• Lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level.

• Encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal either in intensity or focus.
• Apparently inflexible adherence to specific, nonfunctional routines or rituals.
• Stereotyped and repetitive motor mannerisms (e.g. hand or finger flapping or twisting or complex whole-body movements).
• Persistent preoccupation with parts of objects.

Each category had to be identified to qualify for a diagnosis. Notably, the social interaction domain had to be identified twice as much as the other two diagnostic domains, highlighting the importance of social interaction deficits in the diagnosis of ASD.

Active Learning Task

Think, Pair, Share

Review Kanner's 1943 publication. What were some of the descriptions of the cases of ASD in Kanner's seminal work?

How do those descriptions compare with our current knowledge of ASD?

Beginning in 2013, the DSM-V collapsed the three diagnostic domains to just two domains: (i) deficits in social communication and social interaction, and (ii) restricted, repetitive patterns of behavior, interests, or activities. Essentially, the newest edition collapsed the social interaction and communication impairments into just one domain, rather than two independent categories, while maintaining the criteria for restricted and repetitive behaviors (Figure 1.1).

FIGURE 1.1 One domain for autism spectrum disorders.

So why was this change made? Researchers and clinicians alike readily identified social impairments and restricted and repetitive behaviors as defining features of ASD. However, readily identifying communication impairments was a challenging area even for professionals with significant experience with the population, particularly for diagnosing highly verbal individuals with little to no expressive and/or receptive language delays and typical IQ. These highly verbal individuals were often diagnosed with Asperger's, considered a "high-functioning" version of autism. Even more controversial was a diagnosis of pervasive developmental disorder - not otherwise specified (PDD-NOS ), a label used to describe individuals who may have presented with autism-like symptomology, but not enough characteristics to clearly receive an autism or Asperger's diagnosis.

Essentially, even the most experienced professionals were having difficulty reaching a consensus on these three diagnostic categories, with potential for one individual to receive three different diagnoses if evaluated by three different clinicians. This acknowledgment led to a shift in the perception of diagnosis and the idea of an autism spectrum, rather than a singular diagnosis. In fact, many current clinicians now more commonly use the term ASDs, indicating that autism is not just one single disorder, but actually several different types of disorders, each with a different presentation based upon symptom severity and expression. (Figure 1.1).

Why does this matter? As we discuss a bit later, appropriate, differential diagnosis is critical for individuals to be able to access appropriate services and to receive targeted interventions to best address their unique needs. The common refrain from Dr. Shore of: "If you have met one person with autism, then you have met one person with autism" remains accurate due to the vast heterogeneity of ASD. Research scientists in autism work to explore gene mutations in the disorder and recognize the likelihood of several different genetic markers, given the vast differences found in the heterogeneous disorder (Geschwind 2008). Of course, autism is not simply a genetic disorder. If it were, we could clearly test and identify it early on much like we do for other gene mutations, such as Down Syndrome, which we can identify in utero. Complexly, autism is thought to be a combination of pre-existing genetic risk coupled with environmental factors. However, there still exists an element of the unknown that fails to explain the presentation of autism. For example, if there were only genetic and environmental factors, we might expect to see sets of twins both diagnosed and presenting similarly. That is not the case, despite siblings being at higher risk for diagnosis.

One of my most interesting patients was a four-year-old boy with autism who was nonverbal and had significant communication difficulties. He presented with ASD symptomology like hand flapping, difficulty with changes in routine, and significant social communication delays. His twin brother was the exact opposite. He was very social and loved to engage in play, often lamenting that he wanted to go to "speech class" because it looked fun and he never got a turn. They were a great example of siblings who shared the same genetic code and gestational environment as identical twins. It could largely be assumed that their environments after birth were also near identical. Yet, they did not both present with autism. The hardest question we are asked by parents is "What causes autism?" It is not hard because we are not well versed in the topic; it is hard because, like most clinicians, researchers, and scientists, it is...