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Dr Michael Fitzpatrick (General Practitioner and author of books about autism)

The genetics and sociology of the autism spectrum

By Dr Michael Fitzpatrick (General Practitioner and author of books about autism)

This article forms part of a School Resource Pack created by the Progress Educational Trust (PET) as part of its project Spectrum of Opinion: Genes. The article incorporates links to an accompanying Glossary of terms, and is followed by a list of 10 key words, phrases and names and a set of Questions to consider. A more extensive version of the article can be found on PET's BioNews website.

Early definitions of autism emerged from psychiatry before the Second World War, and became widely accepted in the decades that followed. Subsequent research revealed a substantial genetic contribution to autism, and in the late twentieth century there was an increase in the diagnosis of autism, particularly among high-functioning individuals. This is when the concept of the autism spectrum became established.

In 1943 Leo Kanner, America's leading child psychiatrist, famously described 11 cases of autism in children who would now be described as being on the severe end of the autism spectrum. They were characterised by extreme socialdisengagement, lack of serviceablelanguage and what would now be called 'severe learning difficulties'. Kanner's thinking about autism emerged from the focus of early twentieth century psychiatry on 'feeble-minded' and 'delinquent' people, most of whom were confined to psychiatric institutions, extending gradually from adults to children. The key features that Kanner emphasised were the 'extreme aloneness' of the children he studied, and their commitment to 'sameness' - to obsessiverituals and routines.

The terms 'Asperger's syndrome' and 'high-functioning autism' became increasingly popular in the 1990s, reflecting the apparent connection between a particular autistic cognitive style and new information technology. Although Hans Asperger's work was first published in German in 1944, it did not become known in the English-speaking world until the 1980s. The children studied by Asperger also displayed inappropriate social behaviour and an intense commitment to narrow interests, but unlike Kanner's cases, they usually had language (though often stilted and unusual) and they scored in the normal range in tests of intelligence (though often unevenly, with particular strengths and weaknesses).

The concept of autism as a strongly genetically determineddisorder has emerged over recent decades from a number of fields of research. Autism has been found to coexist with a number of recognised genetic conditions (for example Down's syndrome, fragile X syndrome and tuberous sclerosis), and this accounts for around 10% of all cases of autism. Family and twin studies have helped to clarify the relative importance of genetic factors. The increase in genetic research around the Human Genome Project since the 1990s has encouraged the use of increasingly sophisticated techniques to investigate and explain the genetic basis of autism.

Social factors have also made an important contribution to the increasing prevalence and visibility of autism. In 2001, journalist Steve Silberman coined the term 'geek syndrome' to explain the apparent dramatic increase in the prevalence of autism in the Silicon Valley region of California. He argued that the area's information technology industries had attracted people with high-functioning autism from all over the world. The highly ordered systems of the new information technology place great value upon the visual modes of thinking, intense focus and perceptual speed found in high-functioning autistics.

For Silberman, the information technology world was 'an Asperger's dream'. In Silicon Valley, argued Silberman, 'geekitude' was a guarantee of financial success. He suggested that the mutual attraction of geeks had led, by a process of 'assortative mating', to a higher concentration of 'autistic genes', providing one explanation for the California 'epidemic'.

The concept of the autism spectrum, and the expansion in diagnosis resulting from growing public and professional awareness, has reduced the stigma of autism. On the other hand, the tendency to label as autistic every absent-minded professor, eccentricscientist, obsessive engineer, trainspotter and stamp collector carries a danger. If the autism spectrum becomes stretched too wide, autism loses its distinctiveness. Making autism 'normal' may reduce stigma, but riskstrivialising the problems of those with more severe cognitive deficits. 'Normalising' autism also risks underestimating the extreme aloneness that results from the social impairment of autism, even in higher-functioning individuals.

    Questions to consider

  1. Is the idea of the 'autism spectrum' a good thing or a bad thing for autistic people? Why?

  2. What are the benefits (if any) and the problems (if any) of someone receiving an official diagnosis of Asperger's syndrome (high-functioning autism)?

  3. What is the connection between autism and information technology?