Audiology and Speech Pathology - Research Publications
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ItemExpanding the speech and language phenotype in Koolen-de Vries syndrome: late onset and periodic stuttering a novel feature(Springer Nature, 2023-05)Speech and language impairment is core in Koolen-de Vries syndrome (KdVS), yet only one study has examined this empirically. Here we define speech, language, and functional/adaptive behaviour in KdVS; while deeply characterising the medical/neurodevelopmental phenotype in the largest cohort to date. Speech, language, literacy, and social skills were assessed using standardised measures, alongside an in-depth health and medical questionnaire. 81 individuals with KdVS were recruited (35 female, mean age 9y 10mo), 56 of whom harboured the typical 500-650 kb 17q21.31 deletion. The core medical phenotype was intellectual disability (largely moderate), eye anomalies/vision disturbances, structural brain anomalies, dental problems, sleep disturbance, musculoskeletal abnormalities, and cardiac defects. Most were verbal (62/81, 76.5%), while minimally-verbal communicators used alternative and augmentative communication (AAC) successfully in spite of speech production delays. Speech was characterised by apraxia (39/61, 63.9%) and dysarthria (28/61, 45.9%) in verbal participants. Stuttering was described in 36/47 (76.6%) verbal participants and followed a unique trajectory of late onset and fluctuating presence. Receptive and expressive language abilities were commensurate with one another, but literacy skills remained a relative weakness. Social competence, successful behavioural/emotional control, and coping skills were areas of relative strength, while communication difficulties impacted daily living skills as an area of comparative difficulty. Notably, KdVS individuals make communication gains beyond childhood and should continue to access targeted therapies throughout development, including early AAC implementation, motor speech therapy, language/literacy intervention, as well as strategies implemented to successfully navigate activities of daily living that rely on effective communication.
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ItemContent development and validation for a mobile application designed to train family caregivers in the use of music to support care of people living with dementia(FRONTIERS MEDIA SA, 2023-05-12)BACKGROUND: Music therapy is increasingly recognized as an effective support for people living with dementia. However, with incidences of dementia increasing, and limited availability of music therapists, there is a need for affordable and accessible ways that caregivers can learn to use music-therapy based strategies to support the people they care for. The MATCH project aims to address this by creating a mobile application that can train family caregivers in the use of music to support people living with dementia. METHODS: This study details the development and validation of training material for the MATCH mobile application. Training modules developed based on existing research were assessed by 10 experienced music therapist clinician-researchers, and seven family caregivers who had previously completed personalized training in music therapy strategies via the HOMESIDE project. Participants reviewed the content and scored each training module based on content (music therapists) and face (caregivers) validity scales. Descriptive statistics were used to calculate scores on the scales, while thematic analysis was used to analyze short-answer feedback. RESULTS: Participants scored the content as valid and relevant, however, they provided additional suggestions for improvement via short-answer feedback. CONCLUSION: The content developed for the MATCH application is valid and will be trailed by family caregivers and people living with dementia in a future study.
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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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ItemEditorial Perspective: Maximising the benefits of intervention research for children and young people with developmental language disorder (DLD) - a call for international consensus on standards of reporting in intervention studies for children with and at risk for DLD(WILEY, 2022-09-20)Current methods for reporting interventions do not allow key questions of importance to practitioners, service providers, policy-makers and people with DLD to be answered, and hence limit the implementation of effective interventions in the real world. To extend the existing EQUATOR guidelines to the context of speech language therapy/pathology for children with language disorder and to provide more specific guidance on participants, interventions and outcomes within the CONSORT checklist (used to improve the reporting of randomised controlled trials) and TIDieR (Template for Intervention Description and Replication) to ensure consistency of reporting. We will develop a core team to include representatives from each of the key groups who will either use or be influenced by the final reporting guidance across different countries. To achieve each set of aims, we will conduct reviews of the literature (which present typologies of intervention characteristics in (D)LD and related disorders); carry out focus groups; and use systematic consensus methods such as the Delphi technique, nominal group technique or consensus development conferences. Through the development and adoption of standard intervention reporting criteria, we anticipate that we will overcome the numerous barriers for practitioners, services and policy-makers in applying intervention evidence to practice. We believe that establishing international consensus on reporting guidelines would significantly accelerate progress in DLD research and the ease with which it can be used in clinical practice, by capitalising on the growth in intervention studies to enable international collaboration and new methodologies of data pooling, meta-analyses and cross-study comparisons.
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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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ItemNo Preview AvailableIn-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2(BMJ PUBLISHING GROUP, 2023-06)BACKGROUND: Heterozygous disruptions of FOXP2 were the first identified molecular cause for severe speech disorder: childhood apraxia of speech (CAS), and yet few cases have been reported, limiting knowledge of the condition. METHODS: Here we phenotyped 28 individuals from 17 families with pathogenic FOXP2-only variants (12 loss-of-function, five missense variants; 14 males; aged 2 to 62 years). Health and development (cognitive, motor, social domains) were examined, including speech and language outcomes with the first cross-linguistic analysis of English and German. RESULTS: Speech disorders were prevalent (23/25, 92%) and CAS was most common (22/25, 88%), with similar speech presentations across English and German. Speech was still impaired in adulthood, and some speech sounds (eg, 'th', 'r', 'ch', 'j') were never acquired. Language impairments (21/25, 84%) ranged from mild to severe. Comorbidities included feeding difficulties in infancy (10/26, 38%), fine (13/26, 50%) and gross (13/26, 50%) motor impairment, anxiety (5/27, 19%), depression (6/27, 22%) and sleep disturbance (10/24, 42%). Physical features were common (22/27, 81%) but with no consistent pattern. Cognition ranged from average to mildly impaired and was incongruent with language ability; for example, seven participants with severe language disorder had average non-verbal cognition. CONCLUSIONS: Although we identify an increased prevalence of conditions like anxiety, depression and sleep disturbance, we confirm that the consequences of FOXP2 dysfunction remain relatively specific to speech disorder, as compared with other recently identified monogenic conditions associated with CAS. Thus, our findings reinforce that FOXP2 provides a valuable entry point for examining the neurobiological bases of speech disorder.
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ItemNo Preview AvailableInstrumental swallowing assessment in adults in residential aged care homes: Practice patterns and opportunities(WILEY, 2023-03-01)OBJECTIVE: To describe practice patterns in the use of instrumental swallowing assessment (ISA) for older adults in residential aged care homes (RACHs). METHODS: A retrospective audit of medical records of residents living in RACHs in Melbourne, Australia to extract data on speech-language pathologist (SLP) involvement, indications for ISA and ISA practice patterns. RESULTS: Medical files of 323 residents across four Melbourne facilities were reviewed. 36% (n = 115) of residents were referred to SLP for swallowing assessment. Referral to SLP was related to length of stay (U = 7393.00, p < 0.001), dementia status (χ2 [1] = 7.06, p = 0.008), texture modification (χ2 [1] = 93.34, p < 0.001) and an existing dysphagia diagnosis (χ2 [1] = 112.89, p < 0.001). There were no referrals for ISA and no instances of ISA being used. Among 115 residents who were referred to SLP for swallowing assessment, there were 33 instances where ISA might be clinically relevant according to ISA indicators. CONCLUSIONS: Instrumental swallowing assessment is not being used for the management of swallowing in RACHs in Australia despite a clinical need for ISA and a potential role for ISA to improve swallowing care quality. Lack of timely ISA may fail to meet the complex health-care needs of older adults living with dysphagia in RACHs, increasing their vulnerability to complications of dysphagia and its management.
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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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ItemNo Preview AvailableCDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases(SPRINGERNATURE, 2023-07)Speech and language impairments are central features of CDK13-related disorder. While pathogenic CDK13 variants have been associated with childhood apraxia of speech (CAS), a systematic characterisation of communication has not been conducted. Here we examined speech, language, non-verbal communication skills, social behaviour and health and development in 41 individuals with CDK13-related disorder from 10 countries (male = 22, median-age 7 years 1 month, range 1-25 years; 33 novel). Most participants used augmentative and alternative communication (AAC) in early childhood (24/41). CAS was common (14/22). Performance varied widely across intellectual ability, social behaviour and expressive language skills, with participants ranging from within average through to the severely impaired range. Receptive language was significantly stronger than expressive language ability. Social motivation was a relative strength. In terms of a broader health phenotype, a quarter had one or more of: renal, urogenital, musculoskeletal, and cardiac malformations, vision impairment, ear infections and/or sleep disturbance. All had gross and fine motor impairments (41/41). Other conditions included mild-moderate intellectual disability (16/22) and autism (7/41). No genotype-phenotype correlations were found. Recognition of CAS, a rare speech disorder, is required to ensure appropriately targeted therapy. The high prevalence of speech and language impairment underscores the importance of tailored speech therapy, particularly early access to AAC supports.
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ItemAccess to ear and hearing care services in Cambodia: a qualitative enquiry into experiences of key informants(CAMBRIDGE UNIV PRESS, 2022-09-26)OBJECTIVE: In Cambodia, little is known about the state of ear and hearing care, or the roles providers or key stakeholders play in delivering services. METHOD: This was an exploratory study using semi-structured qualitative interviews and a questionnaire addressed to key stakeholders to explore their perceptions and experiences in providing services to people suffering from ear disease or hearing loss in Cambodia. RESULTS: Several challenges were described including a lack of hearing services to meet the demand, especially outside Phnom Penh in primary care and aural rehabilitation. Supply-side challenges include a shortage of trained professionals, facilities and resources, poor co-ordination between providers, unclear referral pathways, and long wait times. CONCLUSION: Now is an opportune time to build on the positive trend in providing integrated care for non-communicable diseases in Cambodia, through the integration of effective ear and hearing care into primary care and strengthening the package of activities delivered at government facilities.