“You see, but you do not observe. The distinction is clear.” ~ Sherlock Holmes (A Scandal in Bohemia)
Autism. It’s a condition that we see weekly as general practitioners. The question is, do we observe it? And if we do, what do we see it as, a series of deficits, or as a set of different strengths that can be celebrated?
For the last few days, I’ve enjoyed being a delegate at the Asia-Pacific Autism Conference in Sydney, a series of some cognitively stimulating discussions covering the full spectrum of being on the spectrum.
There’s always so much that can be gleaned from conferences like these, but for me, the take-home messages as a GP came at the book-ends of the first session and the last.
One of the first keynote presentations came from researchers at the Olga Tennison Autism Research Centre (http://www.latrobe.edu.au/otarc). Prof Cherl Dissanayake and Dr Josephine Barbaro presented their research on a tool they developed called SACS-R, an early detection tool to screen for infants at higher risk for developmental disorders.
Early detection of children on the autism spectrum is very important, something recognised by the AMA in their position statement late last year (https://ama.com.au/position-statement/autism-spectrum-disorder-2016). Despite being important, early detection can also be tricky, and many children on the autism spectrum who are relatively high functioning are often missed in general practice.
Barbaro and Dissanayake have previously tested this tool, training community child health nurses to use it as part of the standard infant health checks. The results of their work showed that the tool was robust (Estimated sensitivity ranged from 69% to 83.8%, and estimated specificity ranged from 99.8% to 99.9% for babies between 12 and 24 months – Barbaro and Dissanayake, 2010).
Barbaro and Dissanayake have continued to develop the tool, but more importantly, they have refined the tool to utilise only the factors that had the highest sensitivity, and then turned the tool into a free app, untethering the initial assessment process from the domain of professionals and potentially putting it in the hands of every parent anywhere in the world via a smart phone. The results of their study are still being finalised, but they claim that the SACS-R tool on the app has a positive predictive value of 82%, a negative predictive value of 97%, a specificity of 99.58% and a sensitivity of 72%.
The power shift that an app like this brings is important for us as GP’s. In time, parents will be doing their own assessments at home and coming in to their GP with a recommendation to have a further assessment, and we need to be prepared for this and take the recommendation seriously. But there’s also a prime opportunity here, to use the app to enhance early screening for developmental disorders in general practice, by sending a link to the parents booking in for their baby’s 12 and 18-month immunisations and discussing the results of the assessment with them when they come in. This could also be in addition to the professional version of the program that Barbaro and Dissanayake are in the process of developing.
Given the preliminary results of their longitudinal study (not yet published but in its final stages) showing a prevalence of up to 1 in 43 children, it’s likely that we will be picking up several new cases a year.
If you want to review the app yourself or consider recommending it to your patients, it’s called ASDetect and it’s available from the App Store or Google Play.
At the other end of the conference, Dr Barry Prizant presented a keynote address on “Uniquely Human: a different way of seeing autism”, based on his book of the same name and his decades of work with people on the autism spectrum.
His theme was that most people see autism as a negative. In times gone by, children on the autism spectrum were seen as profoundly deficient, to the point that they weren’t considered a person. Even today, some pundits have said that “autism is a lost, hellish world” while others have likened having autism to being a victim of the holocaust.
On the other hand, self-advocacy is growing amongst those with autism, who are working to try and change the social view that autism is a series of weaknesses to overcome, but differences to be celebrated. Not only that, but more people on the spectrum are designing research projects to understand the condition better and to translate those advances into tangible benefits, taking self-advocacy to a whole new level.
Prizant not only promoted autism self-advocacy, but also discussed the concept of neuroharmony – that there is no such thing as autistic behaviour, but only human behaviour; that so many people with autism have succeeded in their chosen fields and have made lasting contributions to the benefit of our society. He championed the notion that rather than expecting autistic people to be ‘normal’, ‘normal’ society should be embracing the differences that those on the spectrum have. As one father of a child on the spectrum told him, “You don’t grow out of autism, you grow into autism.” As John Elder Robison wrote, “Asperger’s is not a disease. It’s a way of being. There is no cure, nor is there a need for one. There is, however, a need for knowledge.”
As GP’s, when we see those children on the spectrum picked up by the enhanced early screening tools, we need to ensure we give their parents the balanced view. It’s easy to look at the negatives and the weaknesses inherent in a diagnosis of ASD. I’m not suggesting that we sugar-coat things and tell only the positive side of the story, but we need to balance out any concerns the parents have with a generous serving of hope. As one father put it, “The people who have been the most helpful to us have are those who do not take away our hope. We have learned to keep away from the ‘doom and gloom’ crowd”, while one mother wrote, “Some call it autism, others call it despair and sorrow. I happen to call it hope, beauty and fascination.”
For ASD and the average GP, change is coming – good change that will empower parents to get an earlier diagnosis, and for those with ASD to get the early intervention that will benefit their weaknesses, complement their strengths and accept who they are as people. As GP’s, we need to be flexible and accepting, observing the strengths that autism can bring to our patients, not just seeing the weaknesses.
Barbaro J. and Dissanayake C., “Prospective identification of autism spectrum disorders in infancy and toddlerhood using developmental surveillance: the social attention and communication study.” J Dev Behav Pediatr. 2010 Jun;31(5):376-85
Post-script, 21 September 2017
I received an e-mail from Erin from La Trobe today:
“My name is Erin and I am a Research Assistant at La Trobe University. Currently, I am working with Dr. Josephine Barbaro on the ASDetect project.
We would also like you and your readers to know that we’re currently seeking parents/caregivers of young children aged 11-30 months for our research study looking at how ASDetect identifies early signs of Autism (Australia only). You can register at asdetect.org/app or SMS 0409 758 602. You must register via this website to be eligible for study, so just downloading the app won’t enrol you.”
If you can, please get involved. This is important research that has the potential to have profound benefits for some of our most vulnerable patients ~ CEP