Autism as a global challenge.

03Original abstract

Autism Spectrum Disorders (ASDs) appear to occur in every part of the world, with the majority of affected individuals living outside North America and Europe. Nevertheless, epidemiological and etiological research has been conducted in only a relatively small number of countries and there are marked international variations in the availability of diagnostic and intervention services. This year the United Nations announced the first World Autism Day and so it seems timely to consider the potential benefits and challenges involved in taking a global perspective toward ASDs. Epidemiology provides the tools to identify significant differences in disease prevalence and severity that arise from variations in environmental and genetic risk factors. In the West, most recent epidemiological research has focused on the increase in the detected prevalence of ASDs, but we know very little about whether there are also meaningful differences in prevalence and phenotypic expression between regions, races and cultures. Hence, for instance, are the associations with mental retardation and epilepsy universal and is early childhood regression a global phenomenon? The variations between regions in factors such as physical geography, climate, nutrition, peri-natal health, childhood diseases, exposure to environmental toxins, to name but a few, may represent important opportunities to identify etiological and protective mechanisms. Ethnic variations in disease prevalence have also provided important pointers to genetic risks for many medical disorders, but to date molecular genetic studies of autism have largely focussed on European and North American populations. There have been some attempts to utilize genetically isolated populations, particularly in Europe, but there has been no systematic cross-cultural study of risk variants. The issue is not simply one of completeness, as we do not know whether genetic risk variants identified in one population are necessarily causal in another, or whether risk variants identified outside of Western populations would have broader implications for our understanding of the neurobiology of ASDs. Additionally, in some cultures large family size and high rates of consanguinity offer the possibility of using different analytical approaches to identify genetic risk factors. Translating the potential of global autism research into worthwhile findings cannot be separated from service development. Epidemiological and genetic studies require professionals trained in diagnosis, and families will also expect these individuals to initiate and deliver services. In many countries, ASDs and other neurodevelopmental disorders are seldom emphasized in professional training, and so there is a real challenge in building diagnostic capacity. Additionally, there may be no specialist educational provision for individuals with ASD, or such provision may be confined to major cities. Faced with these challenges, what contributions can be made by the international community of researchers, clinicians, educators, governments and NGOs? At the individual level getting involved is an important first step, but usually this will only translates into meaningful progress when maintained over the longer term. It can take a long time to fully understand the culture and politics of even one country, and helping to effect change usually requires commitment and continuity. In terms of practical help, the form this takes is likely to be strongly influenced by the needs and aspirations of local professionals and families, but an important lesson from other areas of international development is the importance of simplicity. Of course training usefully transfers skills, but in the longer term this effort is most effective when there is a strong focus on training future local trainers. In the West, the provision of services for individuals with ASDs has usually been directly or indirectly initiated by parents, whether undertaken by individuals or organized charities. It seems reasonable to assume that parents will also be the main driving force in other countries and they should be able to benefit from studying successful strategies in the West, not only with respect to local initiatives but also with regard to influencing legislation and governmental priorities. Over the last few years Western governmental agencies and NGOs involved with ASDs have shown increasing interest in advancing international epidemiological research and in initiating cross-national research collaborations. Nevertheless, these initiatives have often been driven by a small number of committed individuals and in the future a global approach to ASDs needs to be integral to organizational strategic plans. A global approach to ASDs is not without its critics: "Why bother with autism when there is no clean water supply and a heavy burden of infectious disease?" is a common comment. But that view represents therapeutic nihilism. For families affected by autism, clean drinking water, improved physical health and help in understanding, educating and supporting an individual with obvious developmental difficulties are not mutually exclusive aspirations: they all deserve attention.

Autism research : official journal of the International Society for Autism Research, 2008 · doi:10.1002/aur.28