Genetic factors and therapy outcomes in persistent developmental stuttering

Abstract

Purpose: We investigated whether outcomes of therapy for persistent developmental stuttering differ in individuals who carry a mutation in one of the known genes associated with stuttering compared to individuals without such mutations.

Method: We studied outcomes of an intensive fluency shaping-based therapy program in individuals with persistent developmental stuttering. We evaluated a cohort of 51 stuttering individuals with who carried a mutation in either the GNPTAB, GNPTG, NAGPA, or AP4E1 gene. We compared therapy outcomes in these individuals with outcomes in 51 individuals matched for age, gender, and ethnicity, who stutter and underwent the same therapy program, and did not carry a mutation in any of these genes. Fluency pre- and post-therapy was evaluated using blinded observer-based quantitative stuttering dysfluency measures (Dysfluent Words Score, DWS), and by subjects' self-reported measures of struggle, avoidance and expectancy behavior associated with speaking (Perceptions of Stuttering Inventory, PSI). The difference between pre- and post-therapy fluency scores was taken as the measure of near-term therapy efficacy.

Results: Comparison of fluency measures showed a strong effect of therapy overall. Mutation carriers achieved significantly less resolution in PSI following therapy, with PSI scores showing significantly less improvement in individuals who carry a mutation (p = 0.0157, RR = 1.75, OR = 2.92) while the group difference in DWS between carriers and non-carriers was statistically not significant in the present study, the trend observed in the results warrants further research focused on this important issue.

Conclusions: These results suggest stuttering is more resistant to therapy in individuals who carry a mutation in one of the genes known to be associated with stuttering.

Keywords: Effectiveness; Genetics; Stuttering; Therapy outcomes.