Finding susceptibility genes for developmental disorders of speech: the long and winding road

Finding susceptibility genes for complex disorders is the next major challenge facing genetics researchers. The purpose of this paper is to stimulate creative thinking about the gene-finding process for developmental speech disorders (DSDs), specifically disorders of articulation/phonology and stuttering. The paper will begin with a review of existing behavioral genetic studies of these phenotypes. This will be followed by a discussion of roadblocks that may impede the molecular study of DSDs, research that is in very early stages of development. As a third objective, the small number of molecular genetic studies of DSDs that have been published or presented will be described. The paper concludes with a discussion of research strategies that may maximize the success of molecular studies of speech phenotypes. It will be argued that progress will most likely be enhanced if theories about biological systems and processes can be used to narrow the search for candidate susceptibility genes.

The reader will be introduced to findings and conceptual issues that relate to the behavioral and molecular genetic investigation of DSDs. After completing this paper, readers should be able to (a) identify key epidemiological findings for the three speech phenotypes that were discussed (DAS, speech delay, and stuttering); (b) summarize the findings of the behavioral genetic studies of speech disorders that were presented; (c) identify four specific challenges that may impede future molecular genetic studies of these phenotypes; (d) describe the methodological sequence that led to the discovery of the FOXP2 gene; and (e) summarize the two research strategies that were presented to potentially reduce sample heterogeneity for future molecular genetics research.