Princeton Autism Subtype Study: Not The Breakthrough It Appears To Be

Why this widely discussed study presents ethical issues and a risk to the Autistic community

If you've been following autism related news recently then you've probably become aware of a widely discussed study out of Princeton that claims to have identified four distinct phenotypes of autism using genetics and observable behaviours.

It is asserted that this paves the way to a broader understanding of autism, however I feel that we should consider the impact that subtyping of autism has had in past and contemporary times. We should then consider how this knowledge might be misused as we move forward.

The study itself uses data obtained from the SPARK project that has been subject to numerous ethical concerns and criticism.

The study defines four subtypes of autism — Social and Behavioral Challenges, Mixed ASD with Developmental Delay, Moderate Challenges, and Broadly Affected. Each subtype exhibits distinct developmental, medical, behavioral and psychiatric traits, and importantly, different patterns of genetic variation.

• Individuals in the Social and Behavioral Challenges group show core autism traits, including social challenges and repetitive behaviors, but generally reach developmental milestones at a pace similar to children without autism. They also often experience co-occurring conditions like ADHD, anxiety, depression or obsessive-compulsive disorder alongside autism. One of the larger groups, this constitutes around 37% of the participants in the study.

• The Mixed ASD with Developmental Delay group tends to reach developmental milestones, such as walking and talking, later than children without autism, but usually does not show signs of anxiety, depression or disruptive behaviors. “Mixed” refers to differences within this group with respect to repetitive behaviors and social challenges. This group represents approximately 19% of the participants.

• Individuals with Moderate Challenges show core autism-related behaviors, but less strongly than those in the other groups, and usually reach developmental milestones on a similar track to those without autism. They generally do not experience co-occurring psychiatric conditions. Roughly 34% of participants fall into this category.

• The Broadly Affected group faces more extreme and wide-ranging challenges, including developmental delays, social and communication difficulties, repetitive behaviors and co-occurring psychiatric conditions like anxiety, depression and mood dysregulation. This is the smallest group, accounting for around 10% of the participants.

Princeton University Article

My first concern is in the way that genetics have been linked to observable behaviours. Observation is, by it's nature, subject to bias and subjective interpretation. In fact the repeated reference to “developmental milestones” and “developmental delay” is itself developmentalism built upon neuronormativity and the pathology paradigm.

The standardisation of development assumes a linear and prescribed path of growth and learning that all children should take. However, humans, Autistic or not, rarely meet averages perfectly.

It is also worth consideration that political and economic structures in society influence what is considered a desirable rate and style of development. This means that a child can be called “developmentally delayed” for not meeting particular milestones, even though their own style of neurocognition has placed them on a different path with a different set of skills to learn and develop.

Thus, we build a basis upon which to pathologise children whose neurocognitive style and subsequent development falls outside of the normative standards desired by the culture within which they reside. This leads me to my further concerns about subtyping Autistic people and how and whom is doing this.

While the idea of more accurate diagnosis and “care” may sound appealing; in a world where diagnosis is difficult to access and post-diagnostic support is virtually non-existent, we have to consider what this allows.

Discovering nuclear fission was an important breakthrough that paved the way for novel and efficient energy production. Sadly, it also set the stage of the proliferation of nuclear weapons and the potential for global destruction. This study, while having benefits on the surface, creates a basis from which certain Autistic people can be identified as more or less desirable, and targeted for removal from society.

Eugenics is not a new concept. It rose to somewhat of a mainstream popularity in the early 20th century and has been embedded in many fascist and authoritarian regimes. Autistic people have always been a target for eugenics programmes, and the findings of this study risk allowing this approach to target Autistic people more efficiently.

There is a significant risk that those identified as having greater challenges, or being more costly to support, could be institutionalised in the immediate, and even terminated in utero as our understanding of the genetics is refined. This is the danger of this study, it moves us toward a world where we are able to eliminate certain Autistic people while retaining others. Autistic culture is a diverse culture, and it is our responsibility to protect that diversity.

I also have concerns about what is meant by “care”. Autistic people the world around have been subject to alleged “treatments” that have caused trauma and pain. My concern is that subtyping such as in this study will not only single out certain Autistic people for this kind of approach, it will be used as a justification with little critical thought given to the ethics or overall impact on the life of Autistic people targeted.

While I can appreciate that many see great potential in this set of results, I would invite.my readers to practice caution and not be drawn into the media hype that this study has caused. Genetic research has been famously rejected by Autistic people and for good reason. We must not allow others to decide the course of our lives and existence.