Medicine (RMH) - Research Publications
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ItemNo Preview AvailableCognition in healthy older women is a predictor of 14‐year falls risk(Wiley, 2021-12)Background: Falls are a significant cause of injuries, loss of confidence, increased morbidity, and institutionalisation in all older people, with women at 50% greater risk than men. The relationship between dementia and falls is well established and 2/3 of all dementia occurs in women. In this study we explored risk factors associated with a 14 year falls risk in a community-based cohort of women, which included validated measures across a wide range of clinical domains including neuropsychological, mood, quality of life and biomarkers (including hormonal). Method: The Australian Women’s Healthy Aging Project is an longitudinal observation study, assessments every year (1991 –1999), followed by assessments in 2002, 2004, 2012 and 2014. The assessments included cognitive (as of 2002), blood, and cardiovascular disease risk assessment, and questions related to falls. After data cleaning, the remaining cohort consisted of 180 participants (Table 1). Missing data were imputed using mice random forest. To identify key risk factors associated with a 14 year falls risk, random survival (time to event) forest (RSF) machine learning was used. Result: The RSF model, using all 290+ possible predictive variables, performed well with an Out Of Bag (OOB, withheld data) prediction error (C-index) of 32.8%. The most predictive variables in the model were identified using the variable importance measure (VIM). The initial model was refined by taking the top 30 predictive variables and retraining the RSF. This refined model resulted in an improved OOB C-index of 5.8% (27%). The top 20 predictive variables, Figure 1, include those associated with cardiovascular disease risk, cognitive performance, and hormone levels (e.g., family history of heart attack, digit symbol coding, and estradiol levels). Conclusion: Ninety percent of the top 20 predictive risk variables for the 14 year fall risk in women, were from three key domains, cognition (40%), cardiovascular (25%) and hormone-related measurements (25%). Our data suggest that for long term prevention of falls these domains may be important reducing risk of falls in the senior female population.
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ItemMetaphors and why these are important in all aspects of genetic counseling(WILEY, 2021-07-07)Metaphors appear simple but are fundamental schemata allowing expression and processing of complex emotions and information. They are so embedded in language and thinking that we are often unaware of their impact, despite the crucial role of metaphors in communication, learning and creating meaning from experiences. A deeper understanding of how to recognize and work with client-generated and counselor-generated metaphors has great potential as an addition to the genetic counseling 'tool-box'. Here, we draw on studies from related health and psychotherapy fields to discuss how working purposefully with metaphors may offer a powerful way to enhance communication within a reciprocally engaged client-counselor relationship. Metaphors present ways to explain complex genetic concepts in a personally meaningful form, to gain a deeper understanding of client's experiences and emotions, to assist processing of experiences, emotions, and concepts, and to assist client and counselor to access and reflect on subconscious emotions, self-concept, and motivations. In addition, working with metaphors has been shown to facilitate coping and action. This paper sets the scene for why and how genetic counselors can utilize client-generated and counselor-generated metaphors purposefully in all areas of practice, including enhancing the therapeutic interaction with clients, as well as in supervision, training, cultural competence, and shaping of societal attitudes toward genetics.
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ItemPolygenic risk in familial breast cancer: Changing the dynamics of communicating genetic risk(WILEY, 2021-07-05)Hereditary breast cancer is associated with known genetic changes: either variants that affect function in a few rare genes or an ever-increasing number of common genomic risk variants, which combine to produce a cumulative effect, known as a polygenic risk (PR) score. While the clinical validity and utility of PR scores are still being determined, the communication of PR is a new challenge for genetic health professionals. This study investigated how PR scores are discussed in the familial cancer clinic compared with a previous study assessing the communication of monogenic risk (MR) for breast cancer. Sixty-five PR consultations between genetic health professionals and women at familial risk of breast cancer were audiotaped, transcribed, and coded using a methodology adapted from the MR study. Analysis of consultations shows that while there were similarities in communicating MR and PR, the complexity and novelty of the polygenic information influenced the style of counseling used by genetic health professionals toward a teaching model of genetic counseling, rather than a patient-centered approach. In particular, compared to MR consultations, in PR consultations significantly fewer counselees (a) were asked about their reasons for attending genetic counseling; or (b) had their information preferences, decision-making style, medical knowledge, understanding, or concerns checked. In conclusion, it is anticipated that PR scores will become part of standard clinical practice. Thus, it will be important for all genetic health professionals to be appropriately educated so that they can tailor their communication to meet patient needs.
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ItemAssessing the acceptability, feasibility, and usefulness of a psychosocial screening tool to patients and clinicians in a clinical genetics service in Australia(WILEY, 2021-11-17)Increasing demand for clinical genetic services may impact the resources and quality of genetic counseling, potentially impacting patient outcomes. Using a psychosocial screening tool may aid the provision of genetic counseling by reliably identifying patients' psychosocial needs. The Genetic Psychosocial Risk Instrument (GPRI) is a validated genetic-specific screening tool designed to identify psychological risk factors that predict distress in patients having genetic testing. This questionnaire-based study investigated the perceived acceptability, feasibility, and usefulness of the GPRI in patients and clinicians in routine clinical genetic practice. From December 2018 to January 2019, 154 patients attending an Australian clinical genetic service were invited to complete a paper-based survey that included the GPRI. The GPRI was scored and provided to the clinician for use in the appointment. In February 2019, clinicians completed an anonymous online survey regarding acceptability, feasibility, and usefulness of the GPRI. Descriptive statistics, chi-squared, t tests, and regression analyses were used to analyze the patient data, and descriptive statistics were employed for clinician surveys. A total of 145 patients participated (94% response rate). The average GPRI score was 46.3 (95% CI 43.6-49.0) with 41% of patients meeting the 50-point threshold indicating high risk for psychological distress. The GPRI was highly acceptable to patients, regardless of their level of psychosocial risk. Fourteen clinicians participated (54% response rate): 85% found the GPRI not too time consuming, and 86% believed it improved patient care by identifying patient needs. All were willing to use the GPRI routinely. The use of the GPRI is highly acceptable to patients and clinicians in this setting, assisting in identifying patients at risk for distress, prompting clinicians to address concerns, provide psychosocial support, and consider ongoing referral. As 41% of patients' scores indicated a high risk of distress, the GPRI is an important tool for potentially enhancing overall patient outcomes.
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ItemBone microarchitecture and estimated failure load are deteriorated whether patients with chronic kidney disease have normal bone mineral density, osteopenia or osteoporosis(Elsevier, 2021-11-18)INTRODUCTION: Measurement of bone mineral density (BMD) is recommended in patients with chronic kidney disease (CKD). However, most persons in the community and most patients with CKD have osteopenia, suggesting fracture risk is low. Bone loss compromises bone microarchitecture which increases fragility disproportionate to modest deficits in BMD. We therefore hypothesized that patients with CKD have reduced estimated failure load due to deterioration in microarchitecture irrespective of whether they have normal femoral neck (FN) BMD, osteopenia or osteoporosis. METHODS: We measured distal tibial and distal radial microarchitecture in 128 patients with CKD and 275 age- and sex-matched controls using high resolution peripheral quantitative computed tomography, FN-BMD using bone densitometry and estimated failure load at the distal appendicular sites using finite element analysis. RESULTS: Patients versus controls respectively had: lower tibial cortical area 219 (40.7) vs. 237 (35.3) mm2, p = 0.002, lower cortical volumetric BMD 543 (80.7) vs. 642 (81.7) mgHA/cm3 due to higher porosity 69.6 (6.19) vs. 61.9 (6.48)% and lower matrix mineral density 64.2 (0.62) vs. 65.1 (1.28)%, lower trabecular vBMD 92.2 (41.1) vs. 149 (43.0) mgHA/cm3 due to fewer and spatially disrupted trabeculae, lower FN-BMD 0.78 (0.12) vs. 0.94 (0.14) g/cm2 and reduced estimated failure load 3825 (1152) vs. 5778 (1467) N, all p < 0.001. Deterioration in microarchitecture and estimated failure load was most severe in patients and controls with osteoporosis. Patients with CKD with osteopenia and normal FN-BMD had more deteriorated tibial microarchitecture and estimated failure load than controls with BMD in the same category. In univariate analyses, microarchitecture and FN-BMD were both associated with estimated failure load. In multivariable analyses, only microarchitecture was independently associated with estimated failure load and accounted for 87% of the variance. CONCLUSIONS: Bone fragility is likely to be present in patients with CKD despite them having osteopenia or normal BMD. Measuring microarchitecture may assist in targeting therapy to those at risk of fracture.
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ItemPromoting clinical best practice in a user-centred design study of an upper limb rehabilitation robot(Taylor & Francis, 2021-01-01)Purpose: Despite their promise to increase therapy intensity in neurorehabilitation, robotic devices have not yet seen mainstream adoption. Whilst there are a number of contributing factors, it is obvious that the treating clinician should have a clear understanding of the objectives and limitations of robotic device use. This study sought to explore how devices can be developed to support a clinician in providing clinical best practice. Methods and Materials: A user-centred design study of a robotic device was conducted, involving build-then-use iterations, where successive iterations are built based on feedback from the use cycle. This work reports results of an analysis of qualitative and quantitative data describing the use of the robotic device in the clinical sessions, and from a focus group with the treating clinicians. Results and Conclusions: The data indicated that use of the device did not result in patient goal-setting and may have resulted in poor movement quality. Therapists expected a higher level of autonomy from the robotic device, and this may have contributed to the above problems. These problems can and should be addressed through modification of both the study design and device to provide more explicit instructions to promote clinical best practice. Implications for Rehabilitation: • Encouraging clinical best practice when using evaluating prototype devices within a clinical setting is important to ensure that best practice is maintained - and can be achieved through both study and device design • Support from device developers can significantly improve the confidence of therapists during the use of that device in rehabilitation, particularly with new or prototype devices • End effector-based robotic devices for rehabilitation show potential for a wide variety of patient presentations and capabilities.
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ItemComparison of segmental lean tissue mass in individuals with spinal cord injury measured by dual energy X-ray absorptiometry and predicted by bioimpedance spectroscopy(SPRINGERNATURE, 2021-07)STUDY DESIGN: Observational. OBJECTIVES: To compare two methods for predicting segmental (arms, legs, trunk) lean tissue mass (LTM: non-bone fat-free mass) from bioimpedance spectroscopy (BIS) against LTM measured from dual energy X-ray absorptiometry (DXA) in individuals with acute spinal cord injury (SCI). SETTING: Austin Health Victorian Spinal Cord Service, Victoria, Australia. METHODS: Fourteen participants (two female), within 8 weeks of traumatic SCI had BIS measured following an overnight fast and within 24 h of DXA scanning. Total body fat-free mass (FFM, body weight minus fat mass) and segmental LTM were predicted from BIS using manufacturer's proprietary software and a previously established SCI-specific prediction method. Appendicular LTM (ALM) was calculated from the sum of the LTM of the arms and legs. Agreement and strength of relationships with DXA for predicted LTM measures using both approaches were assessed using Lin's concordance coefficient and limits of agreement analysis (LOA). RESULTS: The BIS proprietary method performed better than the SCI-specific prediction method in predicting DXA LTM, demonstrating substantial concordance for total body FFM (rc = 0.80), ALM (rc = 0.78), arm (rc = 0.76) and leg LTM (rc = 0.65) and a smaller bias and LOA for ALM (+0.8 vs. -3.4 kg; LOA -4.9-6.4 vs. -11.9-5.1 kg), arm (+0.02 vs. -0.3 kg; LOA -1.1-1.1 kg vs. -2.2-1.6 kg) and leg (+0.4 vs. -1.4 kg; LOA -2.0-2.8 vs. -5.6-2.8) LTM. CONCLUSIONS: BIS can be used to accurately predict total body FFM, segmental LTM and ALM in individuals with acute SCI.
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ItemDoes respiratory muscle training improve respiratory function compared to sham training, no training, standard treatment or breathing exercises in children and adults with neuromuscular disease? A Cochrane Review summary with commentary(IOS PRESS, 2021-01-01)BACKGROUND: Progressive muscle weakness is a feature of neuromuscular diseases (NMDs), a heterogeneous group of conditions with variable onset, presentation and prognosis that affect both children and adults. Respiratory muscle weakness compromises respiratory function and may lead to respiratory failure. OBJECTIVE: To assess the effects of respiratory muscle training (RMT) in adults and children with NMD. METHODS: A Cochrane Review by Silva et al. was summarized with comments. RESULTS: Eleven studies involving 250 randomized participants with NMD were included. While the studies showed that RMT may lead to improvements in lung function and respiratory muscle strength in people with ALS and DMD, this was not a consistent finding. The evidence from all the included trials was of low or very low certainty. CONCLUSIONS: There may be some improvement in lung capacity and respiratory muscle strength following RMT in some NMD. There appears to be no clinically meaningful effect of RMT on physical functioning and quality of life in ALS. The low certainty of the evidence means that the results need to be interpreted with caution.
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ItemEvaluating Rehabilitation Progress Using Motion Features Identified by Machine Learning(IEEE-INST ELECTRICAL ELECTRONICS ENGINEERS INC, 2021-04-01)Evaluating progress throughout a patient's rehabilitation episode is critical for determining the effectiveness of the selected treatments and is an essential ingredient in personalised and evidence-based rehabilitation practice. The evaluation process is complex due to the inherently large human variations in motor recovery and the limitations of commonly used clinical measurement tools. Information recorded during a robot-assisted rehabilitation process can provide an effective means to continuously quantitatively assess movement performance and rehabilitation progress. However, selecting appropriate motion features for rehabilitation evaluation has always been challenging. This paper exploits unsupervised feature learning techniques to reduce the complexity of building the evaluation model of patients' progress. A new feature learning technique is developed to select the most significant features from a large amount of kinematic features measured from robotics, providing clinically useful information to health practitioners with reduction of modeling complexity. A novel indicator that uses monotonicity and trendability is proposed to evaluate kinematic features. The data used to develop the feature selection technique consist of kinematic data from robot-aided rehabilitation for a population of stroke patients. The selected kinematic features allow for human variations across a population of patients as well as over the sequence of rehabilitation sessions. The study is based on data records pertaining to 41 stroke patients using three different robot assisted exercises for upper limb rehabilitation. Consistent with the literature, the results indicate that features based on movement smoothness are the best measures among 17 kinematic features suitable to evaluate rehabilitation progress.