Melbourne School of Health Sciences Collected Works - Research Publications

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    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.
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    Prevalence of Arm Weakness, Pre-Stroke Outcomes and Other Post-Stroke Impairments Using Routinely Collected Clinical Data on an Acute Stroke Unit
    Dalton, EJ ; Jamwal, R ; Augoustakis, L ; Hill, E ; Johns, H ; Thijs, V ; Hayward, KS (SAGE PUBLICATIONS INC, 2024-02)
    INTRODUCTION: The prevalence of upper limb motor weakness early post-stroke may be changing, which can have clinical and research implications. Our primary aim was to describe the prevalence of upper limb motor weakness early post-stroke, with a secondary aim to contextualize this prevalence by describing pre-stroke outcomes, other post-stroke impairments, functional activities, and discharge destination. METHODS: This cross-sectional observational study extracted clinical data from confirmed stroke patients admitted to a metropolitan stroke unit over 15-months. The primary upper limb weakness measure was Shoulder Abduction and Finger Extension (SAFE) score. Demographics (eg, age), clinical characteristics (eg, stroke severity), pre-stroke outcomes (eg, clinical frailty), other post-stroke impairments (eg, command following), functional activities (eg, ambulation), and discharge destination were also extracted. RESULTS: A total of 463 participants had a confirmed stroke and SAFE score. One-third of patients received ≥1 acute medical intervention(s). Nearly one-quarter of patients were classified as frail pre-stroke. Upper limb weakness (SAFE≤8) was present in 35% [95% CI: 30%-39%] at a median of 1-day post-stroke, with 22% presenting with mild-moderate weakness (SAFE5-8). The most common other impairments were upper limb coordination (46%), delayed recall (41%), and upper limb sensation (26%). After a median 3-day acute stroke stay, 52% of the sample were discharged home. CONCLUSION: Upper limb weakness was present in just over a third (35%) of the sample early post-stroke. Data on pre-stroke outcomes and the prevalence of other post-stroke impairments highlights the complexity and heterogeneity of stroke recovery. Further research is required to tease out meaningful recovery phenotypes and their implications.
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    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.
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    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.
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    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.
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    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.
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    Association of novel adult cough subclasses with clinical characteristics and lung function across six decades of life in a prospective, community-based cohort in Australia: an analysis of the Tasmanian Longitudinal Health Study (TAHS).
    Zhang, J ; Lodge, CJ ; Walters, EH ; Chang, AB ; Bui, DS ; Lowe, AJ ; Hamilton, GS ; Thomas, PS ; Senaratna, CV ; James, AL ; Thompson, BR ; Erbas, B ; Abramson, MJ ; Perret, JL ; Dharmage, SC (Elsevier, 2024-02)
    BACKGROUND: Cough is a common yet heterogeneous condition. Little is known about the characteristics and course of cough in general populations. We aimed to investigate cough subclasses, their characteristics from childhood across six decades of life, and potential treatable traits in a community-based cohort. METHODS: For our analysis of the Tasmanian Longitudinal Health Study (TAHS), a prospective, community-based cohort study that began on Feb 23, 1968, and has so far followed up participants in Tasmania, Australia, at intervals of 10 years from a mean age of 7 years to a mean age of 53 years, we used data collected as part of the TAHS to distinguish cough subclasses among current coughers at age 53 years. For this analysis, participants who answered Yes to at least one cough-related question via self-report questionnaire were defined as current coughers and included in a latent class analysis of cough symptoms; participants who answered No to all nine cough-related questions were defined as non-coughers and excluded from this analysis. Two groups of longitudinal features were assessed from age 7 years to age 53 years: previously established longitudinal trajectories of FEV1, forced vital capacity [FVC], FEV1/FVC ratio, asthma, and allergies-identified via group-based trajectory analysis or latent class analysis-and symptoms at different timepoints, including asthma, current productive cough, ever chronic productive cough, current smoking, and second-hand smoking. FINDINGS: Of 8583 participants included at baseline in the TAHS, 6128 (71·4%) were traced and invited to participate in a follow-up between Sept 3, 2012, and Nov 8, 2016; 3609 (58·9%) of these 6128 returned the cough questionnaire. The mean age of participants in this analysis was 53 years (SD 1·0). 2213 (61·3%) of 3609 participants were defined as current coughers and 1396 (38·7%) were categorised as non-coughers and excluded from the latent class analysis. 1148 (51·9%) of 2213 participants in this analysis were female and 1065 (48·1%) were male. Six distinct cough subclasses were identified: 206 (9·3%) of 2213 participants had minimal cough, 1189 (53·7%) had cough with colds only, 305 (13·8%) had cough with allergies, 213 (9·6%) had intermittent productive cough, 147 (6·6%) had chronic dry cough, and 153 (6·9%) had chronic productive cough. Compared with people with minimal cough, and in contrast to other cough subclasses, people in the chronic productive cough and intermittent productive cough subclasses had worse lung function trajectories (FEV1 persistent low trajectory 2·9%, 6·4%, and 16·1%; p=0·0011, p<0·0001; FEV1/FVC early low-rapid decline trajectory 2·9%, 12·1%, and 13·0%; p=0·012, p=0·0007) and a higher prevalence of cough (age 53 years 0·0%, 32·4% [26·1-38·7], and 50·3% [42·5-58·2]) and asthma (age 53 years 6·3% [3·7-10·6], 26·9% [21·3-33·3], and 41·7% [24·1-49·7]) from age 7 years to age 53 years. INTERPRETATION: We identified potential treatable traits for six cough subclasses (eg, asthma, allergies, and active and passive smoking for productive cough). The required management of productive cough in primary care (eg, routine spirometry) might differ from that of dry cough if our findings are supported by other studies. Future population-based studies could apply our framework to address the heterogeneity and complexity of cough in the community. FUNDING: The National Health and Medical Research Council of Australia, The University of Melbourne, Clifford Craig Medical Research Trust of Tasmania, Victorian Asthma Foundation, Queensland Asthma Foundation, Tasmanian Asthma Foundation, The Royal Hobart Hospital Research Foundation, the Helen MacPherson Smith Trust, GlaxoSmithKline, and the China Scholarship Council.
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    Impact of COVID-19 on clinical practice of UK-based speech and language therapists working with school-aged children with neurodisability and oropharyngeal dysphagia: A survey.
    Morgan, S ; Weir, KA ; Mulligan, K ; Jacobs, S ; Hilari, K (Wiley, 2024-01)
    BACKGROUND: The COVID-19 pandemic and response changed clinical service delivery and practice for speech and language therapists (SLTs) in the United Kingdom. SLTs work with children with neurodisability regarding both difficulties with their communication and eating and drinking skills (oropharyngeal dysphagia). This survey aimed to specifically explore the impact of the COVID-19 pandemic on SLT practice for school-aged children with dysphagia. METHODS: UK-based SLTs working with school-aged children with neurodisability and oropharyngeal dysphagia were recruited to share their perceptions on the impact of COVID-19 on practice. Four questions focusing on COVID-19 impact were part of a larger online survey exploring SLT clinical practice regarding mealtime management of children with neurodisability and oropharyngeal dysphagia, which included demographic information, service delivery, assessment and intervention practices. COVID-19 impact questions were a mixture of multiple choice and free text responses. The survey was disseminated using professional networks and social media, between 14 May and 30 July 2021. Data were analysed using descriptive statistics and qualitative content analysis. RESULTS: One hundred and two participants answered at least one of the four COVID-19 questions. Eighty-two per cent of SLTs either agreed or strongly agreed that COVID-19 impacted on service delivery to children and families. Negative impacts on service delivery included school absences/closures, home visiting restrictions, families declining input and/or having barriers to telehealth use and the impact of mask wearing on interactions. Positive impacts included increased telehealth access and skills, increased contact with families and focus on children's eating and drinking function within the home environment. Participants aimed to maintain the increased contact with families alongside a hybrid service delivery approach of in-person and virtual appointments. CONCLUSIONS: This survey provides novel information capturing SLT practice change across two waves of COVID-19 and return to in-person practice for UK children with neurodisability.
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    IMpleMenting Effective infection prevention and control in ReSidential aged carE (IMMERSE): protocol for a multi-level mixed methods implementation study
    Tropea, J ; Peters, S ; Francis, JJ ; Bennett, N ; Fetherstonhaugh, D ; Buising, K ; Lim, L-L ; Marshall, C ; Flynn, M ; Murray, M ; Yates, P ; Aboltins, C ; Johnson, D ; Kwong, J ; Long, K ; McCahon, J ; Lim, WK (BMC, 2023-02-23)
    BACKGROUND: Older people living in residential aged care facilities are at high risk of acquiring infections such as influenza, gastroenteritis, and more recently COVID-19. These infections are a major cause of morbidity and mortality among this cohort. Quality infection prevention and control practice in residential aged care is therefore imperative. Although appointment of a dedicated infection prevention and control (IPC) lead in every Australian residential aged care facility is now mandated, all people working in this setting have a role to play in IPC. The COVID-19 pandemic revealed inadequacies in IPC in this sector and highlighted the need for interventions to improve implementation of best practice. METHODS: Using mixed methods, this four-phase implementation study will use theory-informed approaches to: (1) assess residential aged care facilities' readiness for IPC practice change, (2) explore current practice using scenario-based assessments, (3) investigate barriers to best practice IPC, and (4) determine and evaluate feasible and locally tailored solutions to overcome the identified barriers. IPC leads will be upskilled and supported to operationalise the selected solutions. Staff working in residential aged care facilities, residents and their families will be recruited for participation in surveys and semi-structured interviews. Data will be analysed and triangulated at each phase, with findings informing the subsequent phases. Stakeholder groups at each facility and the IMMERSE project's Reference Group will contribute to the interpretation of findings at each phase of the project. DISCUSSION: This multi-site study will comprehensively explore infection prevention and control practices in residential aged care. It will inform and support locally appropriate evidence-based strategies for enhancing infection prevention and control practice.
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    Communities of practice in residential aged care: A rapid review
    Read, M ; Peters, S ; Bennett, N ; Francis, JJ ; Fetherstonhaugh, D ; Lim, WK ; Tropea, J (WILEY, 2023-09)
    BACKGROUND: Communities of practice (CoPs) have the potential to help address the residential aged care system's need for continuing education and quality improvement. CoPs have been used in healthcare to improve clinical practice; however, little is known about their application to the unique residential aged care context. OBJECTIVES: This rapid review of CoPs for residential aged care was conducted to summarise the features of CoPs, how they are developed and maintained, and assess their effectiveness. METHODS: MEDLINE and CINAHL databases were searched for studies published from January 1991 to November 2022 about CoPs in residential aged care. Data were extracted regarding the CoPs' three key features of 'domain', 'community' and 'practice' as described by Wenger and colleagues. Kirkpatrick's four levels of evaluation (members' reactions, learning, behaviour and results) was used to examine studies on the effectiveness of CoPs. The Mixed Methods Appraisal Tool was used for quality appraisal. RESULTS: Nineteen articles reported on 13 residential aged care CoPs. Most CoPs aimed to improve care quality (n = 9, 69%) while others aimed to educate members (n = 3, 23%). Membership was often multidisciplinary (n = 8, 62%), and interactions were in-person (n = 6, 46%), online (n = 3, 23%) or both (n = 4, 31%). Some CoPs were developed with the aid of a planning group (n = 4, 31%) or as part of a larger collaborative (n = 4, 31%), and were maintained using a facilitator (n = 7, 54%) or adapted to member feedback (n = 2, 15%). Thirteen (81%) studies evaluated members' reactions, and three (24%) studies assessed members' behaviour. The heterogeneity of studies and levels of reporting made it difficult to synthesise findings. CONCLUSIONS: This review revealed the variation in why, and how, CoPs have been used in residential aged care, which is consistent with previous reviews of CoPs in healthcare. While these findings can inform the development of CoPs in this context, further research is needed to understand how CoPs, including the membership makeup, delivery mode, facilitator type and frequency of meetings, impact quality of care.