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It is known that ASDs are highly genetic - meaning that much of the susceptibility to ASD lies in our genes. This is important for a few reasons. First, by identifying the genetic factors relating to ASDs, we will the gain a better understanding of how differences in brain development occur and how to ensure optimal development. Second, this will help us to identify environmental triggers that are specific to genetic subgroups or common to a number of different subgroups. In some cases, it may be that diet affects outcome, such as in the case of PKU or that specific educational strategies help in learning, as in the case of fragile X syndrome.
Despite a large number of studies trying to identify genes important in autism, none have been conclusively identified to date that affect a large proportion of cases, although there have been promising findings and there are some cases where the gene or chromosome regions have been identified. We believe that part of the problem is that thousands of families need to be studied and that there is a need to subgroup families according to similar characteristics.
Large-scale autism family studies will aid in the identification of genes that are associated with this complex disorder, especially when one can subgroup them – such as in the case of fragile X syndrome, neurofibromatosis, and tuberous sclerosis.
Although genes appear to play an important role in the expression of ASDs, it is clear that some of the variation that we see among individuals must be due to environmental factors. These may be as broad as factors within our general environment (for example, exposures to specific chemicals) or they may reflect different experiences (for example, learning to play the piano).
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