The allure of autism for researchers

Data on $K spend on neurodevelopmental disorder research by NIH: from Bishop, D. V. M. (2010). Which neurodevelopmental disorders get researched and why? PLOS One, 5(11), e15112. doi: 10.1371/journal.pone.0015112

Every year I hear from students interested in doing postgraduate study with me at Oxford. Most of them express a strong research interest in autism spectrum disorder (ASD). At one level, this is not surprising: if you want to work on autism and you look at the University website, you will find me as one of the people listed as affiliated with the Oxford Autism Research Centre. But if you look at my publication list, you find that autism research is a rather minor part of what I do: 13% of my papers have autism as a keyword, and only 6% have autism or ASD in the title. And where I have published on autism, it is usually in the context of comparing language in ASD with developmental language disorder (DLD, aka specific language impairment, SLI). And, indeed in the publication referenced in the graph above, I concluded that there was disproportionate amounts of research, and research funding, going to ASD relative to other neurodevelopmental disorders.

Now, I don’t want to knock autism research. ASD is an intriguing condition which can have major effects on the lives of affected individuals and their families. It was great to see the recent publication of a study by Jonathan Green and his colleagues showing that a parent-based treatment with autistic toddlers could produce long-lasting reduction in severity of symptoms. Conducting a rigorous study of this size is hugely difficult to do and only possible with substantial research funding.

But I do wonder why there is such a skew in interest towards autism, when many children have other developmental disorders that have long-term impacts. Where are all the enthusiastic young researchers who want to work on developmental language disorders? Why is it that children with general learning disabilities (intellectual retardation) are so often excluded from research, or relegated to be a control group against which ASD is assessed?

Together with colleagues Becky Clark, Gina Conti-Ramsden, Maggie Snowling, and Courtenay Norbury, I started the RALLI campaign in 2012 to raise awareness of children’s language impairments, mainly focused on a YouTube channel where we post videos providing brief summaries of key information, with links to more detailed evidence. This year we also completed a study that brought together a multidisciplinary, multinational panel of experts with the goal of producing consensus statements on criteria and terminology for children’s language disorders – leading to one published paper and another currently in preprint stage. We hope that increased consistency in how we define and refer to developmental language disorders will lead to improved recognition.

We still have a long way to go in raising awareness. I doubt we will ever achieve a level of interest to parallel that of autism. And I suspect this is because autism fascinates because it does not appear just to involve cognitive deficits, but rather a qualitatively different way of thinking and interacting with the world. But I would urge those considering pursuing research in this field to think more broadly and recognise that there are many fascinating conditions about which we still know very little. Finding ways to understand and eventually ameliorate language problems or learning disabilities could help a huge number of children and we need more of our brightest and best students to recognise this potential.

On the incomprehensibility of much neurogenetics research

Together with some colleagues, I am carrying out an analysis of methodological issues such as statistical power in papers in top neuroscience journals. Our focus is on papers that compare brain and/or behaviour measures in people who vary on common genetic variants.

I'm learning a lot by being forced to read research outside my area, but I'm struck by how difficult many of these papers are to follow. I'm neither a statistician nor a geneticist, but I have nodding acquaintance with both disciplines, as well as with neuroscience, yet in many cases I find myself struggling to make sense of what researchers did and what they found. Some papers that have taken hours of reading and re-reading to just get at the key information that we are seeking for our analysis, i.e. what was the largest association that was reported.

This is worrying for the field, because the number of people competent to review such papers will be extremely small. Good editors will, of course, try to cover all bases by finding reviewers with complementary skill sets, but this can be hard, and people will be understandably reluctant to review a highly complex paper that contains a lot of material beyond their expertise.  I remember a top geneticist on Twitter a while ago lamenting that when reviewing papers they often had to just take the statistics on trust, because they had gone beyond the comprehension of all but a small set of people. The same is true, I suspect, for neuroscience. Put the two disciplines together and you have a big problem.

I'm not sure what the solution is. Making raw data available may help, in that it allows people to check analyses using more familiar methods, but that is very time-consuming and only for the most dedicated reviewer.

Do others agree we have a problem, or is it inevitable that as things get more complex the number of people who can understand scientific papers will contract to a very small set?