Audiology and Speech Pathology - Research Publications
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ItemDifferentiating phonological delay from phonological disorder: Executive function performance in preschoolers(WILEY, 2022-03)BACKGROUND: The conversational speech of most children can be understood by people outside the family by the time they reach 4 years. However, for some children, speech sound disorders (SSDs) persist into their early school years, and beyond, despite adequate hearing, oromotor function, and language learning opportunities. One explanation for children's SSDs are domain-general cognitive-linguistic deficits that impair the child's ability to correctly derive rules governing how speech sounds legally combine to form words in a specific language. AIMS: To explore whether there are differences in performance on executive function tasks between children who make speech errors characteristic of phonological delay and those who make speech errors characteristic of phonological disorder. METHODS & PROCEDURES: Twenty-six children aged from 3;6 to 5;2 (13 with phonological delay and 13 with phonological disorder), matched pairwise for age and sex (nine males), were assessed on tasks measuring cognitive flexibility (rule abstraction and cognitive shift) and phonological working memory. OUTCOME & RESULTS: For the cognitive flexibility tasks, the performance of children with phonological delay was significantly better than that for children with phonological disorder, but there were no group differences for the phonological working memory task. CONCLUSIONS & IMPLICATIONS: Children with phonological disorders might benefit from intervention programmes that incorporate training in cognitive flexibility. WHAT IS ALREADY KNOWN ON THE SUBJECT: Children with phonological delay and phonological disorder comprise the two largest SSD subgroups that present to speech-language therapy clinics. Evidence suggests domain-general cognitive processes (e.g., phonological working memory, ability to revise faulty underlying representations, rule abstraction, and cognitive shift) influence phonological development. Differences between the two subgroups in the types of speech errors, linguistic abilities, developmental trajectories, and responses to intervention have been reported, yet little is known about the underlying cognitive-linguistic deficits. WHAT THIS PAPER ADDS TO EXISTING KNOWLEDGE: The results of this study suggest that children with phonological delay and phonological disorder have distinct patterns of performance on executive function tasks: Children with phonological disorder showed deficits in domain general rule-abstraction and cognitive shift when compared to children with phonological delay. WHAT ARE THE POTENTIAL OR ACTUAL CLINICAL IMPLICATIONS OF THIS WORK?: The findings draw attention to: (1) the importance of differential diagnosis of phonological delay and phonological disorder; (2) the role of domain-general cognitive processes in explaining why children make particular types of errors; and (3) the need to develop innovative and tailored intervention techniques that target specific underlying deficits.
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ItemDiagnosis of vocal cord dysfunction / inducible laryngeal obstruction-A Delphi study protocol.(Public Library of Science (PLoS), 2022)INTRODUCTION: Currently there is no consistent and widely accepted approach to the diagnosis of vocal cord dysfunction/inducible laryngeal obstruction (VCD/ILO). Harmonised diagnostic methods are vital to enable optimal diagnosis, advance management and enable research. We aim to obtain consensus on how expert clinicians recognise and diagnose VCD/ILO. METHODS AND ANALYSIS: Two-round modified Delphi, with workshop validation. ETHICS AND DISSEMINATION: Institutional Board Review was obtained from the Monash Health Human Research Ethics Committee. The dissemination plan is for presentation and publication. REGISTRATION DETAILS: Registered at Australia and New Zealand Clinical Trials Registry ACTRN12621001520820p.
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ItemSocial motivation a relative strength in DYRK1A syndrome on a background of significant speech and language impairments(SPRINGERNATURE, 2022-07)Speech and language impairments are commonly reported in DYRK1A syndrome. Yet, speech and language abilities have not been systematically examined in a prospective cohort study. Speech, language, social behaviour, feeding, and non-verbal communication skills were assessed using standardised tools. The broader health and medical phenotype was documented using caregiver questionnaires, interviews and confirmation with medical records. 38 individuals with DYRK1A syndrome (23 male, median age 8 years 3 months, range 1 year 7 months to 25 years) were recruited. Moderate to severe intellectual disability (ID), autism spectrum disorder (ASD), vision, motor and feeding impairments were common, alongside epilepsy in a third of cases. Speech and language was disordered in all participants. Many acquired some degree of verbal communication, yet few (8/38) developed sufficient oral language skills to rely solely on verbal communication. Speech was characterised by severe apraxia and dysarthria in verbal participants, resulting in markedly poor intelligibility. Those with limited verbal language (30/38) used a combination of sign and graphic augmentative and alternative communication (AAC) systems. Language skills were low across expressive, receptive, and written domains. Most had impaired social behaviours (25/29). Restricted and repetitive interests were most impaired, whilst social motivation was a relative strength. Few individuals with DYRK1A syndrome use verbal speech as their sole means of communication, and hence, all individuals need early access to tailored, graphic AAC systems to support their communication. For those who develop verbal speech, targeted therapy for apraxia and dysarthria should be considered to improve intelligibility and, consequently, communication autonomy.
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ItemClinical management guidelines for Friedreich ataxia: best practice in rare diseases(BMC, 2022-11-12)BACKGROUND: Individuals with Friedreich ataxia (FRDA) can find it difficult to access specialized clinical care. To facilitate best practice in delivering healthcare for FRDA, clinical management guidelines (CMGs) were developed in 2014. However, the lack of high-certainty evidence and the inadequacy of accepted metrics to measure health status continues to present challenges in FRDA and other rare diseases. To overcome these challenges, the Grading of Recommendations Assessment and Evaluation (GRADE) framework for rare diseases developed by the RARE-Bestpractices Working Group was adopted to update the clinical guidelines for FRDA. This approach incorporates additional strategies to the GRADE framework to support the strength of recommendations, such as review of literature in similar conditions, the systematic collection of expert opinion and patient perceptions, and use of natural history data. METHODS: A panel representing international clinical experts, stakeholders and consumer groups provided oversight to guideline development within the GRADE framework. Invited expert authors generated the Patient, Intervention, Comparison, Outcome (PICO) questions to guide the literature search (2014 to June 2020). Evidence profiles in tandem with feedback from individuals living with FRDA, natural history registry data and expert clinical observations contributed to the final recommendations. Authors also developed best practice statements for clinical care points that were considered self-evident or were not amenable to the GRADE process. RESULTS: Seventy clinical experts contributed to fifteen topic-specific chapters with clinical recommendations and/or best practice statements. New topics since 2014 include emergency medicine, digital and assistive technologies and a stand-alone section on mental health. Evidence was evaluated according to GRADE criteria and 130 new recommendations and 95 best practice statements were generated. DISCUSSION AND CONCLUSION: Evidence-based CMGs are required to ensure the best clinical care for people with FRDA. Adopting the GRADE rare-disease framework enabled the development of higher quality CMGs for FRDA and allows individual topics to be updated as new evidence emerges. While the primary goal of these guidelines is better outcomes for people living with FRDA, the process of developing the guidelines may also help inform the development of clinical guidelines in other rare diseases.
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ItemThe impact of communication on healthcare involvement for people living with motor neurone disease and their carers: A longitudinal qualitative study(WILEY, 2022-11)BACKGROUND: Communication and cognitive impairments are known barriers to shared decision-making. Most people diagnosed with motor neurone disease (MND) will develop a motor speech impairment over the disease course. Some will develop cognitive, linguistic or behavioural disturbance. Despite this, the impact of communication and cognitive impairment on personal healthcare decision-making in MND is not well known. AIMS: This exploratory, longitudinal study aimed to capture the perspectives of people living with MND (plwMND) and family members on managing their healthcare with, or in anticipation of, a communication impairment. METHODS & PROCEDURES: Semi-structured interviews and functional assessments were conducted with plwMND and family members over one to three time points between December 2017 and January 2020. Participants were recruited from a specialist MND clinic using a maximum variation sampling approach. Interview transcripts were analysed using trajectory data analysis: a matrix-based approach for thematic analysis of longitudinal data. The study was underpinned by interpretive descriptive methodology. OUTCOMES & RESULTS: A total of 19 plwMND with a range of MND phenotypes and 15 family members were recruited. Disease progression and participant withdrawal resulted in attrition, however 12 plwMND and seven family members participated at all three time points. Consistent cognitive screening was not feasible, which limited the opportunity to explore the impact of cognitive change. An overarching theme 'Communicating takes effort' was identified and illustrates the efforts required to compensate for, or circumnavigate, impairments to maintain involvement in healthcare. Assistance from family and accommodation from healthcare professionals (HCPs) was needed for ongoing engagement. Where plwMND were dependent on alternative communication devices, this assistance was essential and primarily carried out by family members. Despite these efforts, the quality, quantity and accuracy of communication were sometimes compromised. Participants equated good communication with receiving good healthcare, and some expressed anxiety in the anticipation of being unable to express their needs to healthcare workers. CONCLUSION & IMPLICATIONS: Communication impairment has a direct impact on healthcare involvement. This study demonstrates the effort required by plwMND and their carers to maintain or maximize ongoing involvement. This effort may not always be visible to HCPs. This information may prompt clinicians to consider the best ways to conduct clinical consultations to accommodate patients' abilities. Compromised communication experiences can be moderated by accommodations and support from HCPs and appropriate adjustments in the health system. Asking patients about their communication preferences and needs, allowing extra time and conducting multidisciplinary sessions are examples of such support. WHAT THIS PAPER ADDS: What is already known on this subject? Communication and cognitive impairments are known contributors to negative health outcomes and barriers to shared decision-making generally. The existing literature in decision-making in MND does not address the specific impact of these impairments on personal healthcare involvement for plwMND and their carers. What this paper adds to existing knowledge? This paper reports the findings of a research project that interviewed 19 plwMND and 15 carers on one to three occasions over a 26-month period to obtain their perspectives of the impact of communication on healthcare involvement. Whilst a priori the intention was to look at both communicative and cognitive decline, only the former was achieved. The effort and often 'invisible' activity undertaken to manage or maintain involvement in healthcare is identified. Communication impairment requires support and accommodation, otherwise healthcare involvement can be compromised. Results show participants may associate effective communication with good healthcare. What are the potential or actual clinical implications of the work? Clinicians may wish to use these insights from plwMND and their carers to guide adjustments to their professional practice to maximize healthcare involvement for their patients. Tailored education for different healthcare groups is needed to improve understanding of MND-related communication impairments and supportive strategies so that involvement in healthcare is not compromised.
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ItemHypothesis-driven genome-wide association studies provide novel insights into genetics of reading disabilities(SPRINGERNATURE, 2022-11-29)Reading Disability (RD) is often characterized by difficulties in the phonology of the language. While the molecular mechanisms underlying it are largely undetermined, loci are being revealed by genome-wide association studies (GWAS). In a previous GWAS for word reading (Price, 2020), we observed that top single-nucleotide polymorphisms (SNPs) were located near to or in genes involved in neuronal migration/axon guidance (NM/AG) or loci implicated in autism spectrum disorder (ASD). A prominent theory of RD etiology posits that it involves disturbed neuronal migration, while potential links between RD-ASD have not been extensively investigated. To improve power to identify associated loci, we up-weighted variants involved in NM/AG or ASD, separately, and performed a new Hypothesis-Driven (HD)-GWAS. The approach was applied to a Toronto RD sample and a meta-analysis of the GenLang Consortium. For the Toronto sample (n = 624), no SNPs reached significance; however, by gene-set analysis, the joint contribution of ASD-related genes passed the threshold (p~1.45 × 10-2, threshold = 2.5 × 10-2). For the GenLang Cohort (n = 26,558), SNPs in DOCK7 and CDH4 showed significant association for the NM/AG hypothesis (sFDR q = 1.02 × 10-2). To make the GenLang dataset more similar to Toronto, we repeated the analysis restricting to samples selected for reading/language deficits (n = 4152). In this GenLang selected subset, we found significant association for a locus intergenic between BTG3-C21orf91 for both hypotheses (sFDR q < 9.00 × 10-4). This study contributes candidate loci to the genetics of word reading. Data also suggest that, although different variants may be involved, alleles implicated in ASD risk may be found in the same genes as those implicated in word reading. This finding is limited to the Toronto sample suggesting that ascertainment influences genetic associations.
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ItemGenome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people(NATL ACAD SCIENCES, 2022-08-18)The use of spoken and written language is a fundamental human capacity. Individual differences in reading- and language-related skills are influenced by genetic variation, with twin-based heritability estimates of 30 to 80% depending on the trait. The genetic architecture is complex, heterogeneous, and multifactorial, but investigations of contributions of single-nucleotide polymorphisms (SNPs) were thus far underpowered. We present a multicohort genome-wide association study (GWAS) of five traits assessed individually using psychometric measures (word reading, nonword reading, spelling, phoneme awareness, and nonword repetition) in samples of 13,633 to 33,959 participants aged 5 to 26 y. We identified genome-wide significant association with word reading (rs11208009, P = 1.098 × 10-8) at a locus that has not been associated with intelligence or educational attainment. All five reading-/language-related traits showed robust SNP heritability, accounting for 13 to 26% of trait variability. Genomic structural equation modeling revealed a shared genetic factor explaining most of the variation in word/nonword reading, spelling, and phoneme awareness, which only partially overlapped with genetic variation contributing to nonword repetition, intelligence, and educational attainment. A multivariate GWAS of word/nonword reading, spelling, and phoneme awareness maximized power for follow-up investigation. Genetic correlation analysis with neuroimaging traits identified an association with the surface area of the banks of the left superior temporal sulcus, a brain region linked to the processing of spoken and written language. Heritability was enriched for genomic elements regulating gene expression in the fetal brain and in chromosomal regions that are depleted of Neanderthal variants. Together, these results provide avenues for deciphering the biological underpinnings of uniquely human traits.
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ItemParkinSong: Outcomes of a 12-Month Controlled Trial of Therapeutic Singing Groups in Parkinson's Disease(IOS Press, 2020-07-28)Background: Parkinson’s disease (PD) frequently causes progressive deterioration in speech, voice and cognitive aspects of communication. These affect wellbeing and quality of life and are associated with caregiver strain and burden. Therapeutic singing groups can ameliorate PD-related communication disorders and increase social interaction and wellbeing for caregivers and care recipients. Objective: To analyse the effects of ParkinSong group singing sessions on Parkinson’s communication and wellbeing outcomes for people with PD and caregivers over 12 months. Methods: A 4-armed controlled clinical trial compared ParkinSong with active non-singing control conditions over 12 months. Two dosage levels (weekly versus monthly) were available for each condition. ParkinSong comprised high-effort vocal, respiratory and speech exercises, group singing, and social interaction. PD-specific outcomes included vocal loudness, speech intelligibility, maximum phonation time, respiratory muscle strength, and voice related quality of life (QoL). Wellbeing outcomes were also measured for caregivers and care recipients. Results: We recruited 75 people with PD and 44 caregivers who attended weekly ParkinSong, monthly ParkinSong, weekly control or monthly control groups. We found significant improvements in the primary outcome of vocal loudness (p = 0.032), with weekly singers 5.13 dB louder (p = 0.044) and monthly singers 5.69 dB louder (p = 0.015) than monthly controls at 12 months. ParkinSong participants also showed greater improvements in voice-related QoL and anxiety. Caregivers who attended ParkinSong showed greater reductions in depression and stress scores. Conclusions: This 12-month controlled clinical trial of ParkinSong demonstrated improvements in speech loudness and voice-related QoL for participants with PD, and enhanced wellbeing for both caregivers and care recipients. No adverse effects were reported over 12 months and improvements were sustained.
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ItemExpanding online education frontiers - needs, opportunities and examples(Nova Science, 2022)The Future of Online Education provides a vision of a fully successful online education future and practical ways to best turn this vision into a reality, and benefit from it, for online education decision makers, designers, educators and students. The book provides emerging online education knowledge, perspectives, issues and opportunities, and integrates these with practical ways for online education providers and recipients to fully benefit from their great new opportunities. The book is a valuable guide to achieving the best possible online education future and will comprehensively support online education development and implementation across courses and institutions. The Future of Online Education also provides a unique coming together of online education expert perspectives, ideas, examples and resources that will inform, inspire and support a whole-hearted entering into and advancing of our emerging online education world.
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ItemBarriers to access to ear and hearing care services in low- and middle- income countries: A scoping review(ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD, 2022-12-02)People living in low- and middle- income countries (LMICs) meet significant challenges in accessing ear and hearing care (EHC) services. We conducted a scoping review to identify and summarise such barriers, to recognise gaps in the literature, and to identify potential solutions. Reviewers independently screened titles, abstracts and full-text articles and charted data. We undertook thematic analysis of supply and demand side dimensions of access, and summarised findings mapped against the Levesque framework. Of 3048 articles screened, 62 met inclusion criteria for review. Across the five access dimensions, supply-side constraints were more frequently described, the most common being a shortage of EHC workforce or appropriate facilities, despite high demand. We identified a thin geographical spread of literature on barriers to accessing EHC services in LMICs, reflecting low availability of such services. LMICs face a diverse range of demand and supply side challenges including workforce, equipment and resource shortages, and challenges for the majority of the population to pay for such services. There is a need for many LMICs to develop health policy and programmes in EHC, including integration into primary care, scaling up the EHC workforce through increased training and education, and improving EHC literacy through public health measures.