Audiology and Speech Pathology - Research Publications

Permanent URI for this collection

Search Results

Now showing 1 - 10 of 376
  • Item
    No Preview Available
    Plug-and-play microphones for recording speech and voice with smart devices
    Noffs, G ; Cobler-Lichter, M ; Perera, T ; Kolbe, SC ; Butzkueven, H ; Boonstra, FMC ; van der Walt, A ; Vogel, AP (KARGER, 2023-11-16)
    INTRODUCTION Smart devices are widely available and capable of quickly recording and uploading speech segments for health-related analysis. The switch from laboratory recordings with professional-grade microphone set ups to remote, smart device-based recordings offers immense potential for the scalability of voice assessment. Yet, a growing body of literature points to a wide heterogeneity among acoustic metrics for their robustness to variation in recording devices. The addition of consumer-grade plug-and-play microphones has been proposed as a possible solution. Our aim was to assess if the addition of consumer-grade plug-and-play microphones increase the acoustic measurement agreement between ultra-portable devices and a reference microphone. METHODS Speech was simultaneously recorded by a reference high-quality microphone commonly used in research, and by two configurations with plug-and-play microphones. Twelve speech-acoustic features were calculated using recordings from each microphone to determine the agreement intervals in measurements between microphones. Agreement intervals were then compared to expected deviations in speech in various neurological conditions. Each microphone's response to speech and to silence were characterized through acoustic analysis to explore possible reasons for differences in acoustic measurements between microphones. The statistical differentiation of two groups, neurotypical and people with Multiple Sclerosis, using metrics from each tested microphone was compared to that of the reference microphone. RESULTS The two consumer-grade plug-and-play microphones favoured high frequencies (mean centre of gravity difference ≥ +175.3Hz) and recorded more noise (mean difference in signal-to-noise ≤ -4.2dB) when compared to the reference microphone. Between consumer-grade microphones, differences in relative noise were closely related to distance between the microphone and the speaker's mouth. Agreement intervals between the reference and consumer-grade microphones remained under disease-expected deviations only for fundamental frequency (f0, agreement interval ≤0.06Hz), f0 instability (f0 CoV, agreement interval ≤0.05%) and for tracking of second formant movement (agreement interval ≤1.4Hz/millisecond). Agreement between microphones was poor for other metrics, particularly for fine timing metrics (mean pause length and pause length variability for various tasks). The statistical difference between the two groups of speakers was smaller with the plug-and-play than with the reference microphone. CONCLUSION Measurement of f0 and F2 slope were robust to variation in recording equipment while other acoustic metrics were not. Thus, the tested plug-and-play microphones should not be used interchangeably with professional-grade microphones for speech analysis. Plug-and-play microphones may assist in equipment standardization within speech studies, including remote or self-recording, possibly with small loss in accuracy and statistical power as observed in this study.
  • Item
    No Preview Available
    Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals
    Morison, LD ; Kennis, MGP ; Rots, D ; Bouman, A ; Kummeling, J ; Palmer, E ; Vogel, AP ; Liegeois, F ; Brignell, A ; Srivastava, S ; Frazier, Z ; Milnes, D ; Goel, H ; Amor, DJ ; Scheffer, IE ; Kleefstra, T ; Morgan, AT (BMJ PUBLISHING GROUP, 2024-01-30)
    OBJECTIVES: Speech and language impairments are core features of the neurodevelopmental genetic condition Kleefstra syndrome. Communication has not been systematically examined to guide intervention recommendations. We define the speech, language and cognitive phenotypic spectrum in a large cohort of individuals with Kleefstra syndrome. METHOD: 103 individuals with Kleefstra syndrome (40 males, median age 9.5 years, range 1-43 years) with pathogenic variants (52 9q34.3 deletions, 50 intragenic variants, 1 balanced translocation) were included. Speech, language and non-verbal communication were assessed. Cognitive, health and neurodevelopmental data were obtained. RESULTS: The cognitive spectrum ranged from average intelligence (12/79, 15%) to severe intellectual disability (12/79, 15%). Language ability also ranged from average intelligence (10/90, 11%) to severe intellectual disability (53/90, 59%). Speech disorders occurred in 48/49 (98%) verbal individuals and even occurred alongside average language and cognition. Developmental regression occurred in 11/80 (14%) individuals across motor, language and psychosocial domains. Communication aids, such as sign and speech-generating devices, were crucial for 61/103 (59%) individuals including those who were minimally verbal, had a speech disorder or following regression. CONCLUSIONS: The speech, language and cognitive profile of Kleefstra syndrome is broad, ranging from severe impairment to average ability. Genotype and age do not explain the phenotypic variability. Early access to communication aids may improve communication and quality of life.
  • Item
    No Preview Available
    Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40
    Morgan, AT ; Scerri, TS ; Vogel, AP ; Reid, CA ; Quach, M ; Jackson, VE ; McKenzie, C ; Burrows, EL ; Bennett, MF ; Turner, SJ ; Reilly, S ; Horton, SE ; Block, S ; Kefalianos, E ; Frigerio-Domingues, C ; Sainz, E ; Rigbye, KA ; Featherby, TJ ; Richards, KL ; Kueh, A ; Herold, MJ ; Corbett, MA ; Gecz, J ; Helbig, I ; Thompson-Lake, DGY ; Liegeois, FJ ; Morell, RJ ; Hung, A ; Drayna, D ; Scheffer, IE ; Wright, DK ; Bahlo, M ; Hildebrand, MS (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.
  • Item
    Thumbnail Image
    Perisylvian and Hippocampal Anomalies in Individuals With Pathogenic GRIN2A Variants
    Thompson-Lake, DGY ; Liegeois, FJ ; Braden, RO ; Jackson, GD ; Turner, SJ ; Morison, L ; Hildebrand, M ; Scheffer, IE ; Morgan, AT (Wolters Kluwer, 2024-04)
    Background and Objectives: Pathogenic variants in GRIN2A are associated with a spectrum of epilepsy-aphasia syndromes (EASs). Seizures as well as speech and language disorders occur frequently but vary widely in severity, both between individuals and across the life span. The link between this phenotypic spectrum and brain characteristics is unknown. Specifically, altered brain networks at the root of speech and language deficits remain to be identified. Patients with pathogenic variants in GRIN2A offer an opportunity to interrogate the impact of glutamate receptor dysfunction on brain development. Methods: We characterized brain anomalies in individuals with pathogenic GRIN2A variants and EASs, hypothesizing alterations in perisylvian speech-language regions and the striatum. We compared structural MRI data from 10 individuals (3 children and 7 adults, 3 female) with pathogenic GRIN2A variants with data from age-matched controls (N = 51 and N = 203 in a secondary analysis). We examined cortical thickness and volume in 4 a priori hypothesized speech and language regions (inferior frontal, precentral, supramarginal, and superior temporal) and across the whole brain. Subcortical structures (hippocampus, basal ganglia, thalamus) and the corpus callosum were also compared. Results: Individuals with pathogenic GRIN2A variants showed increased thickness and volume in the posterior part of Broca's area (inferior frontal gyrus, pars opercularis). For thickness, the effects were bilateral but more pronounced in the left (large effect size, η2 = 0.37) than the right (η2 = 0.12) hemisphere. Both volume and thickness were also higher in the bilateral superior temporal region while the supramarginal region showed increased thickness only. Whole-brain analyses confirmed left-sided thickness increases in Broca's area, with additional increases in the occipital and superior frontal cortices bilaterally. Hippocampal volume was reduced in the left hemisphere. There were no age-dependent effects or corpus callosum group differences. Discussion: Anomalies in perisylvian regions, with largest differences in Broca's area, suggest an altered development of classical speech-language networks in GRIN2A-related EAS. Left hippocampal reduction suggests a role for this structure in early speech and language development and is consistent with GRIN2A gene expression in that region. Overall, elucidating the neural correlates of EAS provides insights into the impact of GRIN2A dysfunction, opening avenues for targeted intervention in developmental syndromes with compromised speech-language development.
  • Item
    Thumbnail Image
    Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder
    Morison, LD ; Van Reyk, O ; Baker, E ; Ruaud, L ; Couque, N ; Verloes, A ; Amor, DJ ; Morgan, AT (Elsevier, 2024-04)
    Pathogenic variants in BRPF1 cause intellectual disability, ptosis and facial dysmorphism. Speech and language deficits have been identified as a manifestation of BRPF1-related disorder but have not been systematically characterized. We provide a comprehensive delineation of speech and language abilities in BRPF1-related disorder and expand the phenotype. Speech and language, and health and medical history were assessed in 15 participants (male = 10, median age = 7 years 4 months) with 14 BRPF1 variants. Language disorders were common (11/12), and most had mild to moderate deficits across receptive, expressive, written, and social-pragmatic domains. Speech disorders were frequent (7/9), including phonological delay (6/9) and disorder (3/9), and childhood apraxia of speech (3/9). All those tested for cognitive abilities had a FSIQ ≥70 (4/4). Participants had vision impairment (13/15), fine (8/15) and gross motor delay (10/15) which often resolved in later childhood, infant feeding impairment (8/15), and infant hypotonia (9/15). We have implicated BRPF1-related disorder as causative for speech and language disorder, including childhood apraxia of speech. Adaptive behavior and cognition were strengths when compared to other monogenic neurodevelopmental chromatin-related disorders. The universal involvement of speech and language impairment is noteable, relative to the high degree of phenotypic variability in BRPF1-related disorder.
  • Item
    Thumbnail Image
    Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication intervention
    Forbes, EJ ; Morison, LD ; Lelik, F ; Howell, T ; Debono, S ; Goel, H ; Burger, P ; Mandel, J-L ; Geneviève, D ; Amor, DJ ; Morgan, AT (Wiley, 2024-02-29)
    Pathogenic variants in DDX3X are associated with neurodevelopmental disorders. Communication impairments are commonly reported, yet specific speech and language diagnoses have not been delineated, preventing prognostic counseling and targeted therapies. Here, we characterized speech and language in 38 female individuals, aged 1.69-24.34 years, with pathogenic and likely pathogenic DDX3X variants (missense, n = 13; nonsense, n = 12; frameshift, n = 7; splice site, n = 3; synonymous, n = 2; deletion, n = 1). Standardized speech, language, motor, social, and adaptive behavior assessments were administered. All participants had gross motor deficits in infancy (34/34), and fine motor deficits were common throughout childhood (94%; 32/34). Intellectual disability was reported in 86% (24/28) of participants over 4 years of age. Expressive, receptive, and social communication skills were, on average, severely impaired. However, receptive language was significantly stronger than expressive language ability. Over half of the assessed participants were minimally verbal (66%; 22/33; range = 2 years 2 months-24 years 4 months; mean = 8 years; SD = 6 years) and augmented speech with sign language, gestures, or digital devices. A quarter of the cohort had childhood apraxia of speech (25%; 9/36). Despite speech and language impairments, social motivation was a relevant strength. Many participants used augmentative and alternative communication (AAC), underscoring the need for early, tailored, and comprehensive AAC intervention.
  • Item
    Thumbnail Image
    Interviews with musicians with hearing aids
    Swann, S ; OBrien, I ; Rance, G ; Dowell, R (TAYLOR & FRANCIS LTD, 2023-11-19)
    Objectives: Musicians who wear hearing aids are a unique subset of hearing-impaired individuals. There are a number of issues musicians experience with hearing aids, making effective hearing rehabilitation a challenge. Research suggests hearing aid satisfaction in musicians is lower partly due to their advanced listening skills, however, qualitative research addressing musicians who wear hearing aids for music is scarce. The current study aimed to record the barriers encountered by musicians who wear hearing aids when playing their instrument/singing, listening to recorded music and listening to live music.Design: Professional musicians who wear hearing aids were interviewed. Participants were questioned about their experiences with hearing loss and hearing aids, with particular emphasis on experiences listening to recorded and live music, and playing or performing music with the hearing aids.Study Sample: Eight professional musicians were interviewed, using a semi-structured interview style, with a question and prompt guide.Results: Thematic analysis revealed three main themes in the data: the musicians' journey, communication, and flexibility/adjustability.Conclusions: The results have implications for future research into specific fitting parameters for hearing aids for musicians (particularly for music performance), the need for evidence-based rehabilitation programs for musicians with hearing loss, and the need for a glossary of terms to assist communication between Audiologists and musicians.
  • Item
    No Preview Available
    A cost analysis of a 5-day simulation-based learning program for speech-language pathology student training.
    Ward, EC ; Caird, E ; Khanal, S ; Kularatna, S ; Byrnes, J ; Penman, A ; Mcallister, S ; Baldac, S ; Cardell, E ; Davenport, R ; Davidson, B ; Hewat, S ; Howells, S ; Mccabe, P ; Purcell, A ; Walters, J ; Hill, AE (Informa UK Limited, 2023-10)
    Purpose: There is poor reporting of the cost of simulation and greater transparency is needed. The primary study aim was to conduct a financial analysis of the university/training institution costs associated with a 5-day simulation-based learning program for speech-language pathology students. The secondary aim was to consider the economic costs of the model.Method: Costs associated with the delivery of a 5-day simulation-based learning program for speech-language pathology students from six Australian universities were collected regarding: (a) pre-program training, (b) personnel, (c) room hire, (d) equipment, and (e) consumables. Both financial costs and economic costs (Australian dollar, at June 2017) were calculated per university site, and per student.Result: The simulation program was run 21 times involving 176 students. Average total financial cost per program ranged from $4717 to $11 425, with cost variation primarily attributed to local labour costs and various use of in-kind support. Average financial cost per student was $859 (range $683-$1087), however this was almost double ($1461 per student, range $857-$2019) in the economic cost calculation. Personnel was the largest contributing cost component accounting for 76.6% of financial costs. Personnel was also the highest contributing cost in the economic analysis, followed by room hire.Conclusion: This study provides clarity regarding financial and economic costing for a 5-day simulation-based learning program. These data can help universities consider potential up-front financial costs, and well as strategies for financial cost minimisation, when implementing simulation-based learning within the university context.
  • Item
    No Preview Available
    Awareness of Usher Syndrome and the Need for Multidisciplinary Care: A Cross-Occupational Survey of Allied Health Clinicians
    Ayton, LN ; Galvin, KL ; Johansen, L ; O'Hare, F ; Shepard, ER (DOVE MEDICAL PRESS LTD, 2023)
    BACKGROUND: Usher syndrome is the most common cause of deaf-blindness, affecting up to 1 in 6000 people. Multidisciplinary care is required to maximize outcomes for individuals and families. This study assessed awareness of Usher Syndrome amongst allied health clinicians who provide care related to the primarily affected senses of hearing and vision, ie, optometry, orthoptics and audiology. METHODS: A prospective cross-sectional online survey of clinicians working in Australian university-affiliated clinics (7 optometry, 1 orthoptics and 4 audiology) was completed between September 2021 and January 2022. Questions were asked about the cause, common symptoms, and awareness of health professions who manage Usher syndrome. RESULTS: The 27 audiologists, 40 optometrists, and 7 orthoptists who completed the survey included 53 females (71.6%), had an average age of 37 years (range 24-70), and had an average duration of clinical experience of 13 years (range 1-45 years). The majority of respondents correctly identified Usher syndrome as a genetic condition (86%), identified at least two of the affected senses (97%), and identified the progressive nature of the vision and hearing losses (>90%). Awareness of vestibular dysfunction and its characteristics was low, as was knowledge of the key treatment roles that speech pathologists, genetic counsellors and geneticists play in the management of Usher Syndrome. The majority of respondents also did not identify important aspects of care within their own discipline. CONCLUSION: This study has shown that there is a need for targeted education to be delivered to hearing and vision care allied health clinicians to raise awareness of the vestibular impacts and aspects of vision loss experienced by people with Usher syndrome. This education needs to target the broad range of clinicians who have a key role in providing multidisciplinary care (including speech pathologists, geneticists, and genetic counsellors) and to identify the key aspects of good-quality multidisciplinary care.
  • Item
    No Preview Available
    Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol.
    Bouffler, SE ; Lee, L ; Lynch, F ; Martyn, M ; Lynch, E ; Macciocca, I ; Curnow, L ; McCorkell, G ; Lunke, S ; Chong, B ; Marum, JE ; Delatycki, M ; Downie, L ; Goranitis, I ; Vears, DF ; Best, S ; Clausen, M ; Bombard, Y ; Stark, Z ; Gaff, CL (BMJ, 2023-06-02)
    INTRODUCTION: As routine genomic testing expands, so too does the opportunity to look for additional health information unrelated to the original reason for testing, termed additional findings (AF). Analysis for many different types of AF may be available, particularly to families undergoing trio genomic testing. The optimal model for service delivery remains to be determined, especially when the original test occurs in the acute care setting. METHODS AND ANALYSIS: Families enrolled in a national study providing ultrarapid genomic testing to critically ill children will be offered analysis for three types of AF on their stored genomic data: paediatric-onset conditions in the child, adult-onset conditions in each parent and reproductive carrier screening for the parents as a couple. The offer will be made 3-6 months after diagnostic testing. Parents will have access to a modified version of the Genetics Adviser web-based decision support tool before attending a genetic counselling appointment to discuss consent for AF. Parental experiences will be evaluated using qualitative and quantitative methods on data collected through surveys, appointment recordings and interviews at multiple time points. Evaluation will focus on parental preferences, uptake, decision support use and understanding of AF. Genetic health professionals' perspectives on acceptability and feasibility of AF will also be captured through surveys and interviews. ETHICS AND DISSEMINATION: This project received ethics approval from the Melbourne Health Human Research Ethics Committee as part of the Australian Genomics Health Alliance protocol: HREC/16/MH/251. Findings will be disseminated through peer-review journal articles and at conferences nationally and internationally.