Genetic studies of autism: from the 1970s into the millennium

Abstract

Reviewers in the 1960s and early 1970s were skeptical about any substantial role for genetic factors in the etiology of autism. A realization that the 2% rate of autism in siblings (as estimated at that time) was far above the general population base rate, and that this suggested a possible high genetic liability, led to the first small-scale twin study of autism. The replicated evidence from both twin and family studies undertaken in the 1970s and 1980s indicated both strong genetic influences and the likelihood that they applied to a phenotype that was much broader than the traditional diagnostic category of autism. Medical and chromosomal findings also indicated genetic heterogeneity. Advances in molecular genetics led to genome-wide scans of affected relative pair samples with a positive log of the odds to base 10 score for a location on chromosome 7. The major remaining research challenges and the likely clinical benefits that should derive from genetic research are considered in relation to both current knowledge and that anticipated to emerge from research over the next decade.