The Genetic Basis of Persistence and Recovery in Stuttering

Abstract

Although past research has provided evidence of a genetic component to the transmission of susceptibility to stuttering, the relationship between the genetic component to stuttering and persistence and recovery in the disorder has remained unclear. In an attempt to characterize this relationship, the immediate and extended families of 66 stuttering children were investigated to determine frequencies of cases of persistent and recovered stuttering. Pedigree analysis and segregation analysis were used to examine patterns of transmission. The following questions were investigated: 1. Is there a sex effect in recovery from stuttering? Here, we sought to test the hypothesis that females are more likely to recover than males, leading to the change in sex ratio from approximately 2:1 males to females close to onset of the disorder, to 4 or 5:1 in adulthood. 2. Is persistence/recovery in stuttering transmitted in families? If recovery/ persistence appears to be transmitted, (a) are recovered and persistent stuttering independent disorders?; (b) is recovery a genetically milder form of persistent stuttering?; or (c) is persistence/recovery transmitted independent of the primary susceptibility to stuttering? Results indicated sharply different sex ratios of persistent versus recovered stutterers in that recovery among females is more frequent than among males. It was found that recovery or persistence is indeed transmitted, and further, that recovery does not appear to be a genetically milder form of stuttering, nor do the two types of stuttering appear to be genetically independent disorders. Data are most consistent with the hypothesis that persistent and recovered stuttering possess a common genetic etiology, and that persistence is, in part, due to additional genetic factors. Segregation analyses supported these conclusions and provided statistical evidence for both a single major locus and polygenic component for persistent and recovered stuttering.