What's in a Name? Approaches to the ASD Label

What’s in a Name? Approaches to the ASD Label

by Dr. Jonathan Lai

Recently, Maclean’s featured a Q&A with Steve Siberman about autism and societal perceptions of the diagnostic label. He uses the term “neurodiversity” – which is the concept, in his words, that different “styles of human cognition should be celebrated rather than pathologized.”

Here’s a short primer on the different perspectives on Autism Spectrum Disorder (ASD) and the use of the ASD label. As we’ll find out, the ASD label itself is used across a spectrum of views in different ways – from biomedical, behavioural and social perspectives.

What is a diagnosis?

Broadly and traditionally speaking, a diagnosis (literally, to distinguish and know) in the medical community is used for management of a disease (treatment, outcome, etc.). Having categories allows for a quick understanding of common signs and symptoms, with an expectation that doing so leads to an understanding of underlying causal processes, and from there, to what can be done to help.

In Ontario, as in most other jurisdictions in Canada and the United States, only medical doctors and psychologists are able to diagnose mental health conditions. Autism Spectrum Disorder (ASD) is a diagnosis given by these professionals based on a list of symptoms related to social communication and restrictive/repetitive behaviours. In North America, most professionals go by the “DSM” system – the Diagnostic and Statistical Manual, published by the American Psychiatric Association. The descriptions in this manual, and the manual itself, are not without significant criticism.

Professionals outside of North America traditionally subscribe to the International Classification of Diseases (abbreviated ICD), published by the World Health Organization. Currently, the ASD label is assigned based on an individual’s behaviour, not on a biological indicator. In the case of ASD and many other psychiatric conditions, there is no one-size-fits-all biological process. It’s currently based on behavioural observation of core symptom domains – it’s a description, not an explanation. It’s important not to confuse ASD with what we typically think of as a psychiatric condition. Just because someone has ASD doesn’t mean they have a mental health problem.

At the same time, there can be psychiatric and medical conditions present when someone has an ASD diagnosis – some that are very common. These concurrent conditions are not unique to ASD and may be diagnoses on their own. There are multiple combinations of these associated conditions, leading to a range of personality differences, medical needs, psychological tendencies, and service needs. There is no one way ASD ‘looks’

So if there are so many differences, why give the ASD label?

Work from the biomedical perspective suggests that there are many different types of “autisms”. There seems to be clusters of related biological processes (e.g. genes, brain networks) that result in these behavioural differences we diagnose as ASD. The hope is that by understanding the biology, we can then see if a treatment strategy is needed and which one would be most effective for improving the lives of everyone with a specific form of ASD. Ultimately, this “precision medicine” will uniquely help that individual’s quality of life.

Researchers have found over 400 gene mutations that may lead to an ASD, accounting for 10-20% of cases. Many of these genetic variants are related to other developmental disabilities and syndromes as well. Over and above those, there are currently thought to be more than 1000 potential gene mutations that may increase the chance of having ASD – and the effect of certain mutations may only be there if other genes are mutated. (Keep in mind that each of us carries 40-110 gene mutations known to cause diseases but don’t manifest due to protective influences of other genes or the physiological environment). In addition, environmental factors are known to interact with our genetic make-up and some have been identified as factors that increase ASD risk (e.g. parent’s age, low birth weight, maternal infection, prenatal toxin exposure, birth complications). To make matters more complicated, some of those environmental exposures may only have an effect at a specific time during a child’s developmental time course (e.g. maternal infection during pregnancy). So, the complexity and interactions of genes and environment is keeping the biomedical researchers busy in their search to understand the biological processes underneath what we label ASD.

While the biomedical perspective is starting to see multiple “autisms” and the parts that contribute to an ASD label, the behavioural perspective puts all those parts into a whole person and views the person interacting with their surroundings, typically through the lens of strengths and deficits related to navigating the environment. The focus is on the whole person and their sensory and regulatory challenges. Behavioural interventions are designed to improve certain responses and appropriate behaviours (e.g. getting dressed, talking to others) and discourage maladaptive ones (e.g. self-harm, aggression). Probably the most well-known are a set of early intervention models for children with ASD, which include various iterations of Applied Behaviour Analysis, including traditional Intensive Behavioural Intervention or Pivotal Response Therapy, but also more updated models such as the Early Start Denver Mode. Since we don’t know/have answer from the biomedical research just yet (and even if we did!), some of the best strategies for supporting individuals with ASD in their surroundings (families, schools, and workplaces) are various psychological and behaviour-based therapies.

Within this perspective there is a developmental arm that focuses on key developmental areas at different ages. These interventions target more internal processes rather than discrete tasks related to a person’s surroundings. For instance, many people with ASD benefit from focused interventions to assist with communication provided by Speech Language Pathologists, and the management of sensory sensitivities or motoric issues by Occupational Therapists. Many interventions, including the Early Start Denver Model mentioned above, include developmental approaches within their intervention strategy. Techniques for practical management of mental health and daily life skills, to name a few, are also needed for each individual in their context. Again, the ASD label in the behavioural perspective provides a quick understanding of what supports may be required, but treatments need to be tailored to the person and their context, not the diagnosis.

Neurodiversity, with regards to ASD, is a social perspective of the ASD label. This approach emphasizes these behavioural differences in people are simply just that, behavioural differences in people. Indeed, individuals on the spectrum are proud of their abilities – and should be. This particular social perspective argues our societal norms have pushed certain groups to the fringes, instead of embracing differences and allowing individuals to live a full life and thrive.  It also calls that we move beyond the notion of acceptance to one of appreciation. Part of this is to push against the overarching tendency to medicalize or pathologize everything in our society and not have psychiatry determine our societal norms. Notably, at the core of this perspective is a rights-based approach that recognizes the human dignity of every individual – which has implications for advocacy and policy formation in a different way than the other two perspectives above.

Final Thoughts

So, with all these perspectives and uses of this label – how do we reconcile these differences? Rather than arguing over which perspective is most valid (which may be futile, since each has its use in its context and field), we can use each to their strengths. The many “autisms” reflects that there are individuals with varying strengths and varying needs which range from those who are thriving independently to those that rely on multiple supports.

The concept of neurodiversity has an important message for all researchers, family members, policy-makers and stakeholders: autism is about variation of the broad human experience; simply, individuals with ASD should be appreciated at the core of their being rather than approached as problems to be solved.