The Genetic Basis of Persistence and Recovery in Stuttering 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 ... Research Article
Research Article  |   June 01, 1997
The Genetic Basis of Persistence and Recovery in Stuttering
 
Author Affiliations & Notes
  • Nicoline Grinager Ambrose
    University of Illinois at Urbana-Champaign
  • Nancy J. Cox
    University of Chicago School of Medicine
  • Ehud Yairi
    University of Illinois at Urbana-Champaign
  • Corresponding author: e-mail: nambrose@uiuc.edu
Article Information
Speech, Voice & Prosodic Disorders / Fluency Disorders / Special Populations / Genetic & Congenital Disorders / Speech / Research Articles
Research Article   |   June 01, 1997
The Genetic Basis of Persistence and Recovery in Stuttering
Journal of Speech, Language, and Hearing Research, June 1997, Vol. 40, 567-580. doi:10.1044/jslhr.4003.567
History: Received May 23, 1996 , Accepted November 12, 1996
 
Journal of Speech, Language, and Hearing Research, June 1997, Vol. 40, 567-580. doi:10.1044/jslhr.4003.567
History: Received May 23, 1996; Accepted November 12, 1996

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.

Acknowledgments
The preparation of this report was supported by grant #R01-DC00459 from the National Institute on Deafness and Other Communication Disorders, National Institutes of Health. Principal Investigator: Ehud Yairi. This study is based on the first author’s dissertation completed at the University of Illinois under the supervision of Ehud Yairi and Nancy Cox.
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