Autism is a developmental disorder that appears in the early years of life and affects the brain's normal development in the areas of social interaction and communication. While the exact cause of these developmental abnormalities remain unclear, genetic and other non genetic factors such as brain development during pregnancy are thought to play a role. Autism is described as a spectrum disorder (Autism Spectrum Disorder or ASD) that can have a varied presentation of characteristics ranging from mild to severe. Many individuals with autism, due to the complexity of their presentation, may have a primary diagnosis of intellectual disability or mental health co-morbidity.
Although there has been an increased demand in recent years for assessment for ASD it is not clear whether this is due to increased prevalence or to a greater awareness and recognition of the need for earlier intervention. The Health Service Executive does not currently collect information specifically on adults and children identified with Autism on a national basis on the basis of diagnosis. Information pertaining to diagnosis is specifically excluded from the National Intellectual Disability Database as the database is not designed as a medical epidemiological tool. Accordingly the database does not record the incidence of autism or any other disability. The 2011 National Council for Special Education (NCSE) study on prevalence of special educational needs in Ireland (A Study on the Prevalence of Special Educational Needs, Joanne Banks and Selina McCoy, Economic and Social Research Institute) includes autism and estimates that prevalence for ASD is 1 in 100. This is in line with the figure of .9% reported by the Centre for Disease Control in the US.
Research was initiated in 2004 into autism under the auspices of the HRB as part of the Autism Genome Project - a collaboration of autism researchers internationally aimed at understanding susceptibility to ASD. The research groups for this work were based in Trinity College Dublin and University College Dublin. This research investigated the genetic risk factors in ASD by pooling DNA obtained from a large international sample of individuals and their families, including many Irish families. Genetic screening was then employed to identify (i) genetic variants that might increase the risk of autism and (ii) structural changes in the DNA of people with autism. In parallel, complete clinical information was gathered on participants and the clinical and genetic information was combined in the analysis. The main outcome showed that although ASDs have a substantial genetic basis, most of the known genetic risk has been traced to rare structural gene variants. These gene variants were both de novo (arising for the first time in individuals) or inherited, implicating many novel ASD genes and genes involved in neurodevelopment.
In relation to ongoing research, I understand that an Autism Research Group in Trinity College Dublin is focusing on understanding the genetic and neurobiological underpinnings of autism using genetic and neuroimaging methodologies. The Group is funded through a variety of funding agencies and collaborates widely nationally and internationally.