Autism: moving beyond the quest for a cure

Dr Michael Fitzpatrick, author most recently of Defeating Autism: A Damaging Delusion, was invited by the Progress Educational Trust to speak at the debate ‘From Autism to Asperger’s: Disentangling the Genetics and Sociology of the Autistic Spectrum’ which took place in the UK Houses of Parliament on the evening of 20 October. His speech, in which he addresses the search for a gene for autism, is published below.

Scarcely a week goes by without the announcement of another breakthrough in research into the genetics of autism. Such studies are now commonly reported in the mainstream media as well as in scientific journals and are invariably followed by speculation about the possibilities for screening tests to detect autism in fetal life or for the development of therapeutic interventions in people with autism. The quest to discover the cause of autism through research in genetics and neuroscience – and hopes that this research will lead to a cure – have captured the imaginations of many parents of children with autism. In the US and in the UK, the charity Autism Speaks has brought parents and scientists together with the aim of raising funds and promoting research in these areas.

Yet, from the perspective of parents (like me) or jobbing family doctors (also like me), the yield from more than a decade of intensive genetic research into autism has been negligible. Just as autism manifests itself as a complex condition with a wide range of presentations, so it appears to be genetically heterogeneous, with a number of different genes on a number of different chromosomes contributing to the emergence of the disorder. Though there have been impressive discoveries, in genetics and epigenetics, and in neurophysiology, according to one leading authority, ‘in essence, we know very little about the changes in brain development and brain organisation that underlie autistic spectrum disorders’ (1).

The direction of scientific research into autism has been challenged from different directions, by groups of parents and by people with autism. Let’s take these in turn before suggesting how we might begin to move beyond the narrow focus on the quest for cause and cure.

In the 1970s and 1980s, an earlier generation of parents of children with autism welcomed the rise in genetic theories (emerging from twin and family studies) because they relieved them of the burden of psychogenic ‘parent-blaming’ theories of autism. Yet for some parents, genetic explanations still implied an unwelcome degree of parental responsibility, leading to investigations of the family tree for autistic forebears and disputes about which side of the family may have contributed to the autistic pedigree. Genetic theories also appeared to reinforce fatalistic notions that autism is a constitutional, immutable, condition. By the 1990s parent groups were demanding a greater emphasis on potential environmental factors in the causation of autism – an approach that raised hopes of prevention, treatment, even cure.

Over the past decade militant parent groups on both sides of the Atlantic have focused on vaccines (whether MMR or vaccines containing the mercury-based preservative thiomersal) and other putative toxins and pollutants as contributory factors to the rising prevalence of autism (which they characterise as an ‘epidemic’). These groups have sought to move away from the mainstream concept of a neurodevelopmental disorder to that of autism as a biomedical disease, identifying biochemical, immunological or toxological pathological processes. So-called ‘unorthodox biomedical’ campaigns, proclaiming the goal of ‘defeating’ autism, have promoted a wide range of treatments, including diets, vitamins, minerals, enzymes (largely derived from the alternative health sector) and more controversial methods such as chelation therapy, hyperbaric oxygen, hormone treatments. Supporters of these campaigns claim that these techniques can result in ‘recovery’ or cure.

The pursuit of environmental causes for autism has proved even less fruitful than the search for a ‘gene for autism’. It was recognised in the 1960s that women who took the drug thalidomide during pregnancy had an increased risk of having a child with autism; it was also noted that the congenital rubella syndrome resulting from infection during pregnancy was also associated with autism. But not a single new environmental contributor to autism has been identified since the anti-epileptic drug Sodium Valproate more than 20 years ago. While vaccine theories of autism have collapsed because of the failure of their protagonists to substantiate them, no convincing evidence has emerged in support of any other theory of environmental toxicity. In their attempts to justify their theories and therapies, unorthodox biomedical campaigners have lapsed into pseudoscience and quackery, sustaining a substantial commercial sector devoted to dubious tests and treatments.

Another challenge to the mainstream focus on genetic research has emerged from people who identify themselves as having an autistic spectrum disorder, usually ‘higher-functioning’ autism or Asperger’s syndrome. From the perspective of those who align themselves with the ‘neurodiversity’ movement, autism should not be regarded as a disorder, still less as a disease, but as a different way of thinking and behaving, which should be accepted and respected.

They object to the depiction of people with autism in pejorative terms in both mainstream and unorthodox biomedical campaigns and to the representation of their existence as an unremitting source of grief and distress to their families. They also object to the subjection of children with autism to dehumanising, degrading and sometimes dangerous treatments. On all these points, I and a growing number of parents and professionals are in full agreement (though I am concerned that the celebration of autistic difference risks trivialising the difficulties facing not only people with more ‘lower-functioning’ autism but also those experienced by many with Asperger’s syndrome).

Some neurodiversity activists object to genetic research on the grounds that it may lead to screening tests that may lead to the termination of pregnancies if a high risk of autism is identified. In his contribution to the PET discussion, leading UK autism researcher Simon Baron-Cohen endorses concerns that prenatal tests may be used in an attempt to eradicate autism (2). He argues that these worries ‘raise the spectre of eugenics’ and the ‘social policies of the Nazi government in Germany’, observing that ‘such prenatal testing is already possible and being used in this way in relation to other conditions (like Down’s syndrome)’.

I believe that this argument is misconceived – firstly on the issue of eugenics. If parents opt for an abortion in the case of a fetus with Down’s syndrome (as more than 90 per cent of parents faced with this decision do) this is not a eugenic policy promoted by the state in the cause of improving the fitness of race and nation, but a decision taken by parents in the light of their judgement of the difficulties they are likely to face in rearing a child with the range of disabilities typical of Down’s syndrome. (Nor does a personal decision for termination imply any inclination to support discrimination against people with Down’s syndrome or any other disability.)

It is sometimes argued that the selective abortion of fetuses carrying a genetic marker for autism would risk depriving society of the particular contribution of geniuses who have been (contentiously) identified as autistic, such as Newton, Einstein and Wittgenstein. Apart from implying a fanciful notion of a ‘genius gene’ that should be conserved in the gene pool, this is an argument for ‘positive eugenics’, attempting to improve the collective genetic welfare of society.

I believe that Professor Baron-Cohen’s initiative to promote a discussion on the ethics of genetic screening for autism is also misconceived for more pragmatic reasons. As he accepts, there is at present no genetic marker that can be used reliably as a screening test for autism – and no realistic prospect of such a test emerging in the foreseeable future. Why then promote a discussion about an entirely hypothetical possibility? While he believes that it is important to pursue this ethical debate in advance of the science that would make screening possible, I am concerned that it may simply aggravate existing animosities and distract attention from more pressing issues. For example, current initiatives by the National Autistic Society and other agencies seek to identify people with autism who may not have received a diagnosis – but in most areas of the country appropriate services and adequate resources to meet the needs that are identified do not exist. Yet there is little debate of this ethical problem.

The defect of genetic research in autism does not lie in the neglect of environmental factors or in its eugenic implications. The problem – at least as far as parents and people with autism are concerned – lies in the mismatch between the time frame within which scientific advance takes place and the relatively short duration of human childhood and even adult life. Given the very low level from which the neurobiological study of autism began scarcely 30 years ago, progress has been spectacular – but it is likely to be another 30 years before substantial therapeutic intervention is feasible. (There was a delay of around 300 years between the discovery of basic human anatomy and physiology and the emergence of effective medical treatments: hopefully it will not take this long.) In the 15 years since my son was diagnosed with autism, genetic and neuroscientific research has produced negligible benefit. Let’s be realistic: any child diagnosed with autism today is also likely to make the transition to adult life without the benefit of medical treatment for the core features of autism.

This is not to dismiss the importance of continuing to pursue research in genetics and neuroscience: this is far more likely to yield long-term results than chasing vaccines or any of the other toxic fantasies of the environmentalists. It is simply to recognise that for individuals and families affected by autism today the pursuit of ‘cause and cure’ misses the point: we need interventions that will make life better for people with autism in the here and now. This means that, in addition to basic scientific research, we need research to evaluate behavioural and educational programmes as well as other sorts of psychological therapies and pedagogical techniques, to discover which methods work and for which children. We also need more research into the wide range of problems that commonly coexist with autism, such as epilepsy, learning difficulties, anxiety and depression, obsessions and compulsions, self-injurious and aggressive behaviours, sensory and motor difficulties and gastrointestinal disturbances.

As the American author Mark Osteen (also the parent of an autistic child) writes, ‘nobody – autistic or non-autistic – speaks for everybody in the autistic community’ (3). He wisely counsels that, in relation to these controversies, it is ‘essential to attend to a range of voices, not just the loudest ones’.

Dr Michael Fitzpatrick is the author of MMR and Autism: What Parents Need to Know (buy this book from Amazon(UK)) and The Tyranny of Health: Doctors and the Regulation of Lifestyle (buy this book from Amazon(UK)). This is speech was delivered at the House of Commons on 20 October 2009 at an event organised by the Progress Educational Trust.

(1) Genes and the environment: how may genetics be used to inform research searching for potential environmental triggers?, by P Levitt, ‘Presentation at Autism and the Environment: challenges and opportunities for research, workshop proceedings’, Washington, DC: Institute of Medicine

(2) Studying autism genetics responsibly, Simon Baron-Cohen, BioNews 528, 5 October 2009

(3) Autism and representation, by Mark Osteen, Routledge, 2008