Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): defining and measuring functional impacts in pediatric patients.

BACKGROUND: Research about pediatric patients' perspective on mucopolysaccharidosis type VI (MPS VI) and its impact on daily life is limited. We aimed to identify the disease concepts of interest that most impact function and day-to-day life of pediatric patients with MPS VI, and to consider clinical outcome assessments (COAs) that may potentially measure meaningful improvements in these concepts. METHODS: Potential focus group participants were identified by the National MPS Society (USA) and invited to participate if they self-reported a clinician-provided diagnosis of MPS VI and were 4 to 18 years, receiving enzyme replacement therapy (ERT), and available to attend a 1-day focus group with their caregiver in Dallas, TX, USA. The focus group consisted of a series of polling and open-ended concept elicitation questions and a cognitive debriefing session. The discussion was audio recorded, transcribed verbatim, and analyzed to identify disease concepts of interest and functional impacts most relevant to participants. RESULTS: Overall, caregivers (n = 9) and patients with MPS VI (n = 9) endorsed that although their children/they receive ERT, residual symptoms exist and impact health-related quality of life. The key disease concepts of interest identified were impaired mobility, upper extremity and fine motor deficits, pain, and fatigue. Pain was unanimously reported by all patients across many areas of the body and impacted daily activity. Key disease concepts were mapped to a selection of pediatric COAs including generic measures such as PROMIS®, PODCI, CHAQ, and PedsQL™. Caregivers endorsed the relevance of PODCI and PROMIS Upper Extremity, Mobility, and Pain items and all patients completed the NIH Toolbox Pegboard Dexterity Test. Additional COAs that aligned with the disease concepts included range of motion, the 2- and 6-min walk tests, timed stair climbs, Bruininks-Oseretsky Test of Motor Proficiency, 2nd edition, grip strength, pain visual analog scale, and the Faces Pain Scale-Revised. CONCLUSION: An MPS VI focus group of pediatric patients and their caregivers identified impaired mobility, upper extremity and fine motor deficits, pain, and fatigue as key disease concepts of interest. These disease concepts were mapped to existing pediatric COAs, which were provided to the group for endorsement of their relevance.

Burden of Ocular Surface Disease in Patients With Glaucoma From Australia.

PURPOSE: In the Australian general population, the economic burden of ocular surface disease (OSD) severity and other dry eye-related diagnosis have been conducted; however, the glaucoma population has not been evaluated. We assessed the current OSD economic burden in Australian glaucoma patients. DESIGN: A cross-sectional, case-comparison study that quantified OSD signs and symptoms was conducted. METHODS: Patients with and without glaucoma from an Australian eye hospital participated. Patient-/physician-reported OSD assessment and literature-based cost-of-burden estimates were used to estimate burden of illness from the health care system (direct costs) and societal (indirect costs) perspectives. Ocular surface disease prevalence and costs were estimated. RESULTS: Significant OSD, defined as the presence of 2 or more signs plus 1 or more symptoms reported "often" or "always," was experienced by 39% of patients with glaucoma and 18% of a control group (P < 0.001); both populations had similar prevalence of mild OSD. Significant OSD cost estimates were Australian dollars (AU$) 1061.25 (direct costs) and AU$14078.40 (indirect costs); average (direct and indirect) was AU$6185.79 per patient per year. Based on 39% prevalence rate for significant OSD, estimated total cost to Australian society was AU$330.5 million per annum. CONCLUSIONS: The use of standard OSD definition across research would allow for comparisons between studies and for improved OSD prevalence estimates. In Australia, 39% of patients with glaucoma were found to have significant (moderate/severe) OSD, and the associated economic burden was AU$330.5 million per annum. Additional research evaluating quality of life and assessing actual direct/indirect OSD costs in the Australian population is warranted.

Identifying psychosocial mediators of health amongst indigenous Australians for the Heart Health Project.

OBJECTIVE: The Heart Health Project is an ongoing community-directed health promotion programme encompassing the collection of health-related data and interventions promoting cardiovascular health. Following research which has emphasised the importance of psychological factors including mastery, or personal control, in mitigating cardiovascular health outcomes, this qualitative study explored whether such constructs were relevant from Indigenous perspectives, or whether there were other, more meaningful and relevant psychosocial factors identified by participants that should be incorporated into models of Indigenous health and which could be effective targets for change. DESIGN: The study fits within the broader participatory action research design of the Heart Health Project. Data comprised 30 in-depth interviews with members of a rural Aboriginal community in south-eastern Australia to identify psychosocial factors relevant to their health. Interviews were semi-structured and carried out by two interviewers, one Aboriginal and one non-Aboriginal. Qualitative analysis using QN6 software resulted in a number of salient themes and sub-themes. These are summarised using extracts from the data. RESULTS/CONCLUSIONS: Five major themes and 15 sub-themes emerged from data analysis. The findings indicated that while a sense of control may be one factor impacting on health and health behaviours, there were other factors that participants spoke about more readily that have specific relevance to the social and cultural context of Indigenous health. These included history, relationship with mainstream and connectedness. These may be worthy of further empirical investigation and are likely to assist in the design of community health promotion interventions for Aboriginal people.