Carlos E Frigerio-Domingues1, Zoi Gkalitsiou2, Alexandra Zezinka1, Eduardo Sainz1, Joanne Gutierrez1, Courtney Byrd2, Ronald Webster3, Dennis Drayna4. 1. National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 35A Convent Drive, Bethesda, MD 20892, USA. 2. Lang Stuttering Institute and Moody College of Communication, 300 W. Dean Keeton (A0900), University of Texas, Austin, TX 78712, USA. 3. Hollins Communications Research Institute, 6851 Enon Drive, Roanoke, VA 24019, USA. 4. National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 35A Convent Drive, Bethesda, MD 20892, USA. Electronic address: drayna@nidcd.nih.gov.
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. Published by Elsevier Inc.
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. Published by Elsevier Inc.
Authors: Nicole E Neef; Alexandra Korzeczek; Annika Primaßin; Alexander Wolff von Gudenberg; Peter Dechent; Christian Heiner Riedel; Walter Paulus; Martin Sommer Journal: Hum Brain Mapp Date: 2022-04-12 Impact factor: 5.399