PURPOSE: This study presents data from 2 families with high incidence of stuttering, comparing methods of phenotype assignment and exploring the presence of other fluency disorders and corresponding speech characteristics. METHOD: Three methods for assigning phenotype of stuttering were used: self-identification, family identification, and expert identification. Agreement on which individuals were assigned by each of these methods was studied. Multiple measures of fluency and speech production were obtained. RESULTS: Self-reports and descriptions of blocking rather than self-identification as a person who stutters demonstrated the best agreement with expert identification of stuttering. Family identification showed poor agreement with both expert and self-identification of stuttering. Using binary categories of fluent or stuttering, 90% of individuals in 1 family were classified by expert consensus. Only 70% of the other family could be similarly categorized. Experts required 2 other categories, cluttering and other fluency disorders, to fully characterize dysfluency within this family. These 2 families also demonstrated differences in speech production. CONCLUSION: Some families with high incidence of stuttering may also have high incidence of other fluency disorders and other speech-production difficulties. This finding may have ramifications for genetic studies, including criteria for defining phenotype and collapsing data across multiple families.
PURPOSE: This study presents data from 2 families with high incidence of stuttering, comparing methods of phenotype assignment and exploring the presence of other fluency disorders and corresponding speech characteristics. METHOD: Three methods for assigning phenotype of stuttering were used: self-identification, family identification, and expert identification. Agreement on which individuals were assigned by each of these methods was studied. Multiple measures of fluency and speech production were obtained. RESULTS: Self-reports and descriptions of blocking rather than self-identification as a person who stutters demonstrated the best agreement with expert identification of stuttering. Family identification showed poor agreement with both expert and self-identification of stuttering. Using binary categories of fluent or stuttering, 90% of individuals in 1 family were classified by expert consensus. Only 70% of the other family could be similarly categorized. Experts required 2 other categories, cluttering and other fluency disorders, to fully characterize dysfluency within this family. These 2 families also demonstrated differences in speech production. CONCLUSION: Some families with high incidence of stuttering may also have high incidence of other fluency disorders and other speech-production difficulties. This finding may have ramifications for genetic studies, including criteria for defining phenotype and collapsing data across multiple families.
Authors: Yin Yao Shugart; Jennifer Mundorff; James Kilshaw; Kimberly Doheny; Betty Doan; Jacqueline Wanyee; Eric D Green; Dennis Drayna Journal: Am J Med Genet A Date: 2004-01-15 Impact factor: 2.802