The Fertility Show, Manchester Central, 24-25 March 2018
Page URL:

Genetics and autism: untangling the debate

21 September 2009
Appeared in BioNews 526
Autism spectrum disorder (ASD) is rarely far from the news. ASD is a complex, and as yet poorly understood, pervasive developmental disorder. People with ASD display a triad of impairments in social communication, social interaction, and social imagination (1). The impact of these impairments on children and adults with ASD, and on their families, can vary enormously. However, a common reaction to ASD is fear: fear that my child may develop ASD; fear that my child with ASD will suffer; fear that what I do to my child may cause ASD; fear of people with ASD. This latter factor should not be underestimated: much of the fear of ASD itself depends on fear of people who are strange or unusual, and who don't interact with 'us' in the 'normal' ways. Some of the fear is irrational, but some of it is quite rational: fear for a child with ASD, for example, that he or she will be bullied, or neglected, or not receive the social and educational support that he or she needs and deserves.

In recent years, we have come to understand more about the genetics of ASD. Although we are at a very early stage of understanding the biology of ASD, genetic research promises much. Some of the ways better knowledge of the genetics of ASD can help are as follows. First, because ASD is so diverse in how it affects people, in terms of the nature of the impairments they have, and in terms of the severity of those impairments, if we had a better genetic model of ASD we could get a better model of how people with ASD develop differently from people who are 'neurotypical'. Second, we could also begin to unpack the 'spectrum': it is quite likely that ASD as we currently understand it is in fact a family of related disorders with slightly different underlying mechanisms. Third, genetic information could help with diagnosing the condition. Fourth, if we can understand the genetics of ASD, and thus the biochemical pathways involved, we may be able to develop treatments which modify that development. Finally, we might be able to get an understanding of the risk factors which make it more or less likely that someone will have a child with ASD, which could inform reproductive decision-making.

All of this is controversial (2). Some of the controversies will be familiar to readers of Bionews. Any genetic research into behaviour faces charges of reductionism. And any genetic research in the field of disability and impairment faces difficult challenges: the relationship between 'disability' and 'difference', the respective roles of biomedical and social contextual factors in shaping the lives of people with impairments, the controversy over whether disability should be 'treated' or 'prevented'. Fears of eugenics are never far away. All of these issues are commonly discussed in the ASD community, both by parents and families, and by many people with ASD themselves. In addition to these issues, there are some debates which are specific to the ASD field: for instance, there is a perception in the ASD community that research funds are very limited, and that most of these funds are spent on research into the causes (particularly the genetic causes) of ASD. What many families with people with ASD say is that these scarce funds should be spent on research into interventions, rather than causes. Which interventions should be investigated is a topic of controversy, too: biomedical treatments to 'cure' autism? Educational interventions to help overcome the social impairments? Occupational therapies to overcome the sensory difficulties which commonly affect people with ASD? Each proposed shift of emphasis maps onto a different account of what ASD 'really is', what the problem is and who it is a problem for (3).

The leading autism researcher, psychologist Professor Simon Baron-Cohen, recently called for a more informed and open public debate on genetic research into autism. This is to be welcomed, and Progress Educational Trust recently received a grant from the Wellcome Trust to facilitate this debate. Genetic research clearly has a lot to offer. But we need to understand the role of genetic research in two contexts: first, the priority of genetic research vis-à-vis other types of biomedical, social, educational and policy research around ASD. And, second, the impact of genetic research: what is it used for, how is it understood by its various users, and how does it change how we think about ASD in practice? Put another way: what do we fear about genetics and ASD? And what fears does genetic research into ASD respond to? (4)

Richard Ashcroft is speaking at the events Age of Autism: Rethinking 'Normal' and From Autism to Asperger's: Disentangling the Genetics and Sociology of the Autistic Spectrum in London in October, and is advising the charity that publishes BioNews, the Progress Educational Trust (PET), on its project Spectrum of Opinion: Genes, Autism and Psychological Spectrum Disorders. He is coeditor of Principles of Healthcare Ethics (buy this book from Amazon UK or Amazon USA) and Case Analysis in Clinical Ethics (buy this book from Amazon UK or Amazon USA).

1) The National Autistic Society has excellent resources on all aspects ASD
2) Schreibman, L. The Science and Fiction of Autism (Cambridge, Mass.: Harvard University Press, 2005
3) Silverman, C., 'Fieldwork on another planet: Social science perspectives on the autism spectrum' Biosocieties 2008; 3: 325-341
4) Grinker, R.R., Isabel's World: Autism and the Making of a Modern Epidemic (London: Icon Books, 2009) (first published in the USA as Unstrange Minds: A Father Remaps the World of Autism).
26 April 2010 - by Dr Tom Dickins and Sima Sandhu 
The models emerging from behavioural biology are increasingly sophisticated. They do not undermine the quest for candidate genes, but rather augment our understanding of why those genes might persist in populations and be differentially expressed across circumstances....
8 March 2010 - by Sandy Starr 
In their concluding remarks, all three speakers said the answer to the question implicit in the event's title - if you are genetically predisposed to a neurodevelopmental disorder, does this effectively mean you are marked for life? - is an emphatic 'no'. Nonetheless, they had divergent views on the likelihood of successfully applying the fruits of genetic research into mental health...
14 December 2009 - by Helen Keeler 
I had wanted to donate my eggs to a woman with fertility problems ever since having children of my own. I frequently tell my three children that I always wanted to be a mother and that every day they make my dreams come true. How wonderful it would be to help make someone else's dreams come true too....
23 October 2009 - by Sandy Starr 
The Progress Educational Trust (PET) debate 'From Autism to Asperger's: Disentangling the Genetics and Sociology of the Autistic Spectrum' took place in the UK Houses of Parliament on the evening of 20 October 2009, two days before the Autism Bill received its third and final reading in the House of Lords....
18 October 2009 - by Dr Marianne Kennedy 
A large genetic study has uncovered a single 'letter' change in DNA which is associated with autism. The multi-national collaborative team, who published their findings in Nature, also identified two further regions of the genome which could contain other rarer genetic changes that have an even greater influence on the condition. Coinciding with these discoveries and publishing their findings in the Proceedings of the National Academy of Sciences, a team led by Pro...
21 September 2009 - by Dr Michael Fitzpatrick 
The early narrow definition of autism emerged out of the psychiatry of the pre-war years and became widely accepted in the post-war decades. While research revealed a substantial genetic contribution to autism, in the late twentieth century there was an upsurge in the diagnosis of autism, particularly among 'higher functioning' individuals, and the concept of the 'autistic spectrum' became established....
29 June 2009 - by Lorna Stewart 
Scientists at the University of Aberdeen, Scotland, have discovered a gene which may mediate the cognitive effects of autism. After detecting a chromosomal rearrangement in one severely autistic boy, the team, headed by Dr Zosia Miedzybrodzka, was inspired to look for similar genetic faults in other autistic families. Thier findings are published in the latest issue of Journal of Medical Genetics....
3 May 2009 - by Dr Sarah Spain 
New research, led by Professor Hakon Hakonarson from the Children's Hospital of Philadelphia and published in the journal Nature, has identified for the first time common genetic variations that could explain 15 per cent of autism cases. Several genes have been previously linked to autism, but these...
14 January 2008 - by Ailsa Stevens 
Researchers from the Boston-based Autism Consortium have discovered a rare chromosomal abnormality reported to be 100 times more common in children with autism. The study, published last week in the New England Journal of Medicine, found that in approximately 1 per cent of autism cases a small...
4 July 2007 - by Ailsa Stevens 
New research, published online in the journal Proceedings of the National Academy of Sciences last week, shows that blocking the activity of a gene in the brain - which regulates the enzyme p21-activated kinase (PAK) - can reverse symptoms of mental retardation and autism in mice with Fragile...
26 March 2007 - by Dr Jess Buxton 
Many cases of autism could be linked to spontaneous genetic changes that result in large chunks of missing DNA, according to a new US study. The research, published early online in Science, shows that so-called 'copy number variants' could be an important factor in the appearance...
26 February 2007 - by Dr Laura Bell 
Recent research published online in the journal Nature Genetics has revealed new genetic variations which may contribute to autism. Autism, along with related conditions such as Asperger syndrome, is characterised by a range of severity and symptoms. The conditions are therefore collectively known as autistic spectrum...
7 August 2006 - by Letitia Hughes 
Researchers at the University of Washington, US, have found that different genes may be responsible for causing autism in boys than girls. Reporting in the Journal of Molecular Genetics last week, they have found evidence for two genetic subtypes of autism; both male versus female and also...
4 May 2006 - by Dr Jess Buxton 
Mice bred to lack a crucial brain gene show many of the characteristics of autism, say US scientists based at the University of Texas. The team created a 'knockout' mouse that is missing a gene called Pten, specifically in areas of the brain associated with learning...
29 July 2005 - by BioNews 
In two separate studies, scientists working at Vanderbilt University in Tennessee, US have shown that a faulty gene involved in controlling levels of the brain chemical serotonin is linked to an increased risk of autism. The first study, published in the American Journal of Human Genetics, shows that many different...
22 July 2005 - by BioNews 
The identification of a gene involved in autism could lead to a new test for children at risk of developing the condition, French researchers say. The scientists, based at the company IntegraGen SA, have shown that variations in a gene called PRKCB1 are 'strongly associated' with autism. The finding, published...
Log in to add a Comment.

By posting a comment you agree to abide by the BioNews terms and conditions

Syndicate this story - click here to enquire about using this story.