Autism is a spectrum disorder (ASD) that can severely impact patients and their families. While various studies suggest a disturbance of brain energy metabolism, the cause of autism remains the subject of much debate and is still being researched by geneticists, psychiatrists, paediatric specialists and other professionals. Fragile X syndrome, Landau-Kleffner syndrome, Rett syndrome, and childhood disintegrative disorder are all conditions currently classified as rare that fall within the spectrum of autism. Acknowledging both the health and social implications of ASD, the European Commission (EC) has specifically included it in its public-health work plans since 2005. ASD is currently included in both the "Rare Diseases" and "Major and Chronic Diseases" EC Task Forces.
There is a scarcity of reliable prevalence data for ASD in Europe. The most recent prevalence study was conducted by the CDC in the US in 2002. Although information suggests that "age-specific prevalence rates for classical autism in the EU could vary between 3.3 and 16.0 per 10 000, and could increase to between 30 and 63 per 10 000 once all forms of ASD are included", prevalence has not to date definitively been determined. Whether or not it is useful to use a broad spectrum definition for ASD is also subject to debate. While much of the reported rise in incidence and prevalence appears to be due to changes in diagnostic criteria and awareness in professionals, rather than actual increases in the number of cases of autism, this has by no means been proved conclusively. A dramatic increase in ASD prevalence was observed following the publication of the DSM-IV criteria. Unfortunately, there is no medical test available that can determine absolutely whether or not autism is present. Diagnosis depends upon descriptions of behaviour. Professionals vary in how they apply criteria even when using standardised systems.
Prevalence is essential to burden of disease analysis and accompanying policy-making decisions for defining and creating health, educational and social resources. To date, the social and economic burdens of ASD have not been adequately calculated in terms of epidemiology, except in some specific situations.
Thus, as part of a Directorate of Health and Consumer Protection (DG Sanco) 2005 Call for Proposals, the European Autism Information System (EAIS), officially launched in January 2006 with Dr. Alvaro Ramirez of Ireland's Hope Project as project leader. The goals of the EAIS are summarised in their mission statement:
Improv[ing] the quality of life of children, adults and families affected by Autism Spectrum Disorders through early diagnosis of the condition and the creation of a reliable information system on ASD for Europe which will promote the development of government policies to facilitate appropriate and effective treatments and services.
This central aim of creating an information system in order to store data across the EU will provide a ready source of reliable evidence available "to determine both the prevalence and financial burden of the disease and to monitor ongoing trends". Extending this system into a "full-scale EU surveillance system" at the end of the project is a goal.
EAIS thus has a pilot study in prevalence as one of its major work packages. There is no central recording of ASD cases at the EU level and this work package aims to provide an initial analysis of the European ASD situation using standard methodology across Europe. Selecting tools for determining prevalence is a challenging task when dealing with the heterogenous populations of Europe. Of the many screening devices available, the EAIS is trying to select standardised tools that can be adapted to different cultures and languages. The project is currently in the process of selecting and validating tools and working with the various cultural interpretations of symptoms. A checklist has been developed within this package to determine areas of study for ASD prevalence and to address potential difficulties. A second checklist delineates the data needs for determining the economic implications of ASD.
An Early Detection Tools work package is also an important feature of EAIS. While there is presently no cure for autism, research on the efficacy of early, intensive behavioural interventions suggests that developmental trajectories can be positively altered, particularly with respect to language and cognitive development.
The EAIS website includes sections detailing each work package, such as the European Autism Alliance, the Distance Learning Platform, Public Awareness, Early Detection Tools, Pilot Studies and Autism Surveillance. The project spans Europe and includes EFTA and EEA countries. Partner institutions from Ireland, Italy, Denmark, Spain, UK and the Czech Republic lead specific areas of the project and institutions in Scotland, Malta, Romania, Turkey, Italy, Poland and the US contribute efforts. The first quarterly EAIS newsletter has just been published. Contact Dr. Ramirez for further information.
The EC is also supporting other ASD initiatives. One Sixth Framework Programme (FP6) project currently underway is Oxford-based Autism Molgen, (contract nr LSHM-CT-2005-512158), a genetic research effort seeking to identify susceptibility alleles for autism spectrum disorders. Participants include research teams from Denmark, Finland, France, Germany, Greece, Italy, the Netherlands, Sweden and the UK. The project will run through September 2008.
There are also studies available examining possible environmental causes of ASD. The EC in 2004 published the Draft baseline report on neurodevelopmental disorders that considers both voluntary and involuntary exposures to pollutants and their impact on neurodevelopment.
Finally, international non-professional association Autism-Europe , financed in part by the EC, is dedicated to the issue of discrimination and ASD. A European-wide qualitative survey made available in several European languages polling discrimination in health and education was conducted earlier this year. The results will be used notably to draft a political declaration advocating for better health and educational services for ASD patients and to further define their needs.