Audiology and Speech Pathology - Research Publications
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ItemNo Preview AvailableStuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40(OXFORD UNIV PRESS, 2023-12-01)Stuttering is a common speech disorder that interrupts speech fluency and tends to cluster in families. Typically, stuttering is characterized by speech sounds, words or syllables which may be repeated or prolonged and speech that may be further interrupted by hesitations or 'blocks'. Rare variants in a small number of genes encoding lysosomal pathway proteins have been linked to stuttering. We studied a large four-generation family in which persistent stuttering was inherited in an autosomal dominant manner with disruption of the cortico-basal-ganglia-thalamo-cortical network found on imaging. Exome sequencing of three affected family members revealed the PPID c.808C>T (p.Pro270Ser) variant that segregated with stuttering in the family. We generated a Ppid p.Pro270Ser knock-in mouse model and performed ex vivo imaging to assess for brain changes. Diffusion-weighted MRI in the mouse revealed significant microstructural changes in the left corticospinal tract, as previously implicated in stuttering. Quantitative susceptibility mapping also detected changes in cortico-striatal-thalamo-cortical loop tissue composition, consistent with findings in affected family members. This is the first report to implicate a chaperone protein in the pathogenesis of stuttering. The humanized Ppid murine model recapitulates network findings observed in affected family members.
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ItemSelf-reported impact of developmental stuttering across the lifespan(WILEY, 2022-10)AIM: To examine the phenomenology of stuttering across the lifespan in the largest prospective cohort to date. METHOD: Participants aged 7 years and older with a history of developmental stuttering were recruited. Self-reported phenotypic data were collected online including stuttering symptomatology, co-occurring phenotypes, genetic predisposition, factors associated with stuttering severity, and impact on anxiety, education, and employment. RESULTS: A total of 987 participants (852 adults: 590 males, 262 females, mean age 49 years [SD = 17 years 10 months; range = 18-93 years] and 135 children: 97 males, 38 females, mean age 11 years 4 months [SD = 3 years; range = 7-17 years]) were recruited. Stuttering onset occurred at age 3 to 6 years in 64.0%. Blocking (73.2%) was the most frequent phenotype; 75.9% had sought stuttering therapy and 15.5% identified as having recovered. Half (49.9%) reported a family history. There was a significant negative correlation with age for both stuttering frequency and severity in adults. Most were anxious due to stuttering (90.4%) and perceived stuttering as a barrier to education and employment outcomes (80.7%). INTERPRETATION: The frequent persistence of stuttering and the high proportion with a family history suggest that stuttering is a complex trait that does not often resolve, even with therapy. These data provide new insights into the phenotype and prognosis of stuttering, information that is critically needed to encourage the development of more effective speech therapies. WHAT THIS PAPER ADDS: Half of the study cohort had a family history of stuttering. While 75.9% of participants had sought stuttering therapy, only 15.5% identified as having recovered. There was a significant negative correlation between age and stuttering frequency and severity in adults.
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ItemNo Preview AvailableA Comparative Study of Two Acoustic Measures of Hypernasality(AMER SPEECH-LANGUAGE-HEARING ASSOC, 2009-12-01)PURPOSE: This study aimed to compare 2 quantitative acoustic measures of nasality in children with cleft lip and palate (CLP) and healthy controls using formalized perceptual assessment as a guide. METHOD: Fifty participants (23 children with CLP and 27 age- and gender-matched healthy controls) aged between 4 and 12 years produced a variety of high and low vowels that allowed perceptual ratings of nasal resonance severity as well as acoustic analysis of spectral changes. Two objective measures of nasality were used: 1/3 octave spectra analysis and the voice low tone high tone ratio. Each respective technique has been evaluated in previous research, and their potential as an effective means of detecting changes in nasal resonance has been demonstrated. RESULTS: Only 1/3 octave spectra analysis differentiated between participants with hypernasal speech and those perceived to have normal nasal resonance. Significant differences were also observed between varying levels of perceived severity on vowels within nonnasalized phonemic environments (/pIt/, /tIp/). CONCLUSIONS: Perceptual judgment remains the primary means of evaluating levels of nasality in children with CLP. However, the development and validation of easy-to-use objective techniques remains an important goal for effective clinical and empirical practice.
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ItemNo Preview AvailableComparability of Modern Recording Devices for Speech Analysis: Smartphone, Landline, Laptop, and Hard Disc Recorder(KARGER, 2014)BACKGROUND: Large-scale multi-site experimental and clinical speech protocols require high-fidelity, easy-to-use speech recording technologies. However, little is known about the reliability and comparability of affordable, portable and commonly used technologies with traditional well-validated devices (e.g., a hard disc recorder with a high-quality microphone). OBJECTIVE: To examine the comparability of speech and voice samples acquired from protocols involving high- and low-quality devices. METHODS: Speech samples were acquired simultaneously from 15 healthy adults using four devices and analyzed acoustically for measures of timing and voice quality. For the purpose of making initial comparisons, methods were deemed comparable if the resultant acoustic data yielded root mean squared error values ≤10% and statistically significant Spearman's correlation coefficients. RESULTS: The data suggest that there is significant and widespread variability in the quality and reliability between different acquisition methods for voice and speech recording. Not one method provided statistically similar data to the protocol using the benchmark device (i.e., a high-quality recorder coupled with a condenser microphone). Acoustic analysis cannot be assumed to be comparable if different recording methods are used to record speech. CONCLUSIONS: Findings have implications for researchers and clinicians hoping to make comparisons between labs or, where lower-quality devices are suggested, to offer equal fidelity.
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ItemNo Preview AvailableFeasibility of automated speech sample collection with stuttering children using interactive voice response (IVR) technology(TAYLOR & FRANCIS LTD, 2015-04)PURPOSE: To investigate the feasibility of adopting automated interactive voice response (IVR) technology for remotely capturing standardized speech samples from stuttering children. METHOD: Participants were 10 6-year-old stuttering children. Their parents called a toll-free number from their homes and were prompted to elicit speech from their children using a standard protocol involving conversation, picture description and games. The automated IVR system was implemented using an off-the-shelf telephony software program and delivered by a standard desktop computer. The software infrastructure utilizes voice over internet protocol. Speech samples were automatically recorded during the calls. Video recordings were simultaneously acquired in the home at the time of the call to evaluate the fidelity of the telephone collected samples. Key outcome measures included syllables spoken, percentage of syllables stuttered and an overall rating of stuttering severity using a 10-point scale. RESULT: Data revealed a high level of relative reliability in terms of intra-class correlation between the video and telephone acquired samples on all outcome measures during the conversation task. Findings were less consistent for speech samples during picture description and games. CONCLUSION: Results suggest that IVR technology can be used successfully to automate remote capture of child speech samples.
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ItemNo Preview AvailableThe History of Stuttering by 7 Years of Age: Follow-Up of a Prospective Community Cohort(AMER SPEECH-LANGUAGE-HEARING ASSOC, 2017-10)PURPOSE: For a community cohort of children confirmed to have stuttered by the age of 4 years, we report (a) the recovery rate from stuttering, (b) predictors of recovery, and (c) comorbidities at the age of 7 years. METHOD: This study was nested in the Early Language in Victoria Study. Predictors of stuttering recovery included child, family, and environmental measures and first-degree relative history of stuttering. Comorbidities examined at 7 years included temperament, language, nonverbal cognition, and health-related quality of life. RESULTS: The recovery rate by the age of 7 years was 65%. Girls with stronger communication skills at the age of 2 years had higher odds of recovery (adjusted OR = 7.1, 95% CI [1.3, 37.9], p = .02), but similar effects were not evident for boys (adjusted OR = 0.5, 95% CI [0.3, 1.1], p = .10). At the age of 7 years, children who had recovered from stuttering were more likely to have stronger language skills than children whose stuttering persisted (p = .05). No evident differences were identified on other outcomes including nonverbal cognition, temperament, and parent-reported quality of life. CONCLUSION: Overall, findings suggested that there may be associations between language ability and recovery from stuttering. Subsequent research is needed to explore the directionality of this relationship.