Saturday, 18 June 2011

What do we know about autism?

There have been, and continue to be, quite a lot of big personalities and reputations that have brought their knowledge and experience to bear on autism research down the years. I don't want to name names but between the Ivy League and Oxbridge set (and the many, many institutions in-between) there has been a considerable body of knowledge generated on many facets of autism. I appreciate that questions still remain as to the extent to which that knowledge has transferred from 'laboratory to real life' and positively impacting and improving quality of life for people with autism. I am however drawn to the various philosophical notions about the time taken from discovery to practical application being generally measured in decades and years rather months or weeks. Sciences it seems, is a slow process.

I say all this because of a fairly recent post which appeared on one of the Psychology Today blogs [who have had their fair share of controversy of late] which, rather pessimistically in my opinion, seemed to suggest that autism research has had its day with regards to the numbers and talent available and involved. As you might imagine I took umbrage at this suggestion, not personally I have to say, but because there are some very, very good researchers undertaking some very worthwhile investigations into autism. Indeed one could perhaps describe the current position as being a bit of a golden age for autism research in terms of the people, disciplines, resources and importantly, funds involved - 'we've never had it so good' to mis-quote one Statesman.

For one of the more contemporary snapshots, of where autism research currently is, I draw your attention to this presentation given by Prof. Sir Michael Rutter as part of the 2008 National Autistic Society (NAS) conference. If you click on the link titled 'Historical perspectives - what have we learnt from research?' you can download the full Powerpoint presentation for yourself. Whilst acknowledging the contribution of Rutter to autism research, including the development of the ADI-R, I have to say I have never had that much direct exposure to his involvement in autism, aside from watching a few tutorial videos on how to correctly administer an ADI. Bearing in mind that a person's particular field of interest and grounding can readily affect their view of a concept/condition/event, there are some very interesting points to take from Rutter's 2008 presentation. For me, some of these include:

  • Validation that autism is distinct from other conditions manifesting behavioural/psychiatric symptoms but can manifest with various co-morbidities.
  • Lower cognitive abilities and a lack of language are key predictors of outcome.
  • The existence of a broader autism phenotype (extending into non-clinical relevance).
  • Autism is not, generally speaking, a localised brain abnormality.
  • The finding of increased head size in some cases of autism reflects increased brain size.
  • Genetics are (variably) important but autism can also arise from other medical conditions.
  • The validity of the concept of regression in autism.
  • A lack of convincing evidence of a neurochemical or immune abnormality specifically associated with autism.
  • A lack of convincing evidence that medication impacts on core symptoms.
  • A lack of convincing evidence of EEG patterns specifically related to autism.

I have posted about a few of these issues before (regression, medication, etc) and am planning some future posts on some of the other details mentioned. Rutter does discuss quite a few other things in his presentation and I would encourage readers to view the whole document (if anything else just to see what I cherry-picked). Reading through this list, one might get a slightly negative impression of the state of research, what with the repeated use of the words 'lack of..'. I don't however see it this way. I see something rather more interesting; much of which goes back to the various issues around the heterogeneity of autism and the different presentations of the autism: autism is not autism but rather autisms.

It is perhaps interesting, but not unexpected, that Rutter also embraces the concept of gene-environment interactions in relation to autism. Anyone who has read his papers on Romanian orphans presenting with an astonishing rate of autistic behaviours (present in about 6%) will understand why he adopts such a position. Indeed, in his latter slides on the 'puzzles and challenges' remaining he asks some very reasonable questions on the impact of advancing paternal age, immune effects over neurotransmitter effects, the role of environmental agents and, knock my socks off(!), whether or not diet could play a role in some cases of autism and why.

I appreciate that it is easy for me to sit at my computer and churn out posts like this 'celebrating' what a wonderful job science is doing for autism, research-wise, whilst people with autism, their parents, guardians and families face daily challenges related to lots of different aspects of autism. In no way do I wish to take away the reality of what autism means to many, particularly in light of these tough economic times. From a research perspective, I do however feel optimistic that there are considerable numbers of people, talent, resources and money who are genuinely concerned with discovering more about autism, and who continue to contribute to the all-important research base from which Government and Society can formulate suitable policy to ensure that the relevant support and opportunities are available to all people on the spectrum.