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ABSTRACT Background Appropriate support for the health of children with an intellectual disability by parents and healthcare professionals is pivotal, given the high risk of chronic conditions. However, there is limited research that has collected important insights from parents on their learnings for supporting their child's evolving healthcare needs. Aim This study focuses on parents' experiences and learnings from managing and supporting the health of their child with intellectual disability. It aims to understand what parents wish they had known earlier, the essential knowledge and skills they needed to manage their child's health. Method A qualitative study was carried out using semi‐structured interviews with 21 parents of adolescents and young people with intellectual disability. The children had chronic health conditions that fell into six health domains, including (1) difficulties with movement and physical activity, (2) epilepsy, (3) dental care, (4) respiratory health and infection, (5) behaviour, mental health or sleep and (6) gastrointestinal health. Results Thematic analysis yielded five themes: (1) optimising mutual engagement between healthcare professionals and families; (2) planning and practising effective healthcare; (3) having the right information at the right time; (4) finding the support that was needed and (5) navigating healthcare and disability systems. Over time, parents developed specific skills and knowledge for managing their child's health effectively. Some parents expressed regret for not seeking support and information about their child's health conditions earlier. Parents described how mutual engagement between healthcare professionals and parents optimised the management of their child's healthcare. Conclusion The study found that managing the health of a child with intellectual disability is complex. The themes were consistent across health comorbidities, indicating important common experiences. The themes aligned with conceptualisations of health literacy, suggesting that improving health literacy skills can help parents better manage their children's health conditions. Patient or Public Contribution We developed the project in consultation with members of the public who have lived experience of parenting a child with intellectual disability. They commented on the study aims, interview schedule, participant recruitment and provided feedback on the analysis and discussion.

IntroductionPeople with intellectual disability are at risk of poor physical and mental health. Risks to health are compounded by poor health literacy, that is, reduced capacity to access health services, respond quickly to changes in health status and navigate care pathways. Building health literacy skills is a strength-based way to increase health and optimise the use of healthcare services. The internet is a primary source of health information for many people, including people with intellectual disability and their families. This scoping review will aim to identify and collate online lay healthcare resources available to and developed for people with intellectual disability and their families and evaluate whether domains of health literacy are addressed.Methods and analysisThis review will be reported following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for scoping reviews guidelines. The proposed search strategy has three components. Resources will be identified by (1) reviewing disability organisation websites, (2) searching key disability and health terms in the Google search engine and (3) snowball sampling to identify additional resources through links in identified websites and resources. Resources will be selected if they are freely available, presented in or translatable into English, provide health information and are directed to people with intellectual disability or their family members. Extracted data will include descriptors of the source, format, area of health and targeted age range. Content relevant to domains of health literacy will be documented and gaps in available health information will be identified. Study findings will be presented in narrative, tabular and visual forms.Ethics and disseminationEthical approval will not be sought because primary data will not be collected. The results will be disseminated in peer-reviewed literature, as conference presentations, as a synthesised resource for people with intellectual disability and their families and in summary documents for health service managers and policymakers.

Background Involvement in healthcare decisions is associated with better health outcomes for patients. For children and adolescents with intellectual disability, parents and healthcare professionals need to balance listening to a child’s wishes with the responsibility of keeping them safe. However, there is a scarcity of literature evaluating how to effectively involve them in decision making. In this context, we review the concept of health literacy, focusing on the skills of healthcare decision making for children and adolescents with intellectual disability. Methods We describe the concept of health literacy and models explaining shared decision making (individuals and healthcare professionals collaborate in decision making process) and supported decision making (when a trusted person supports the individual to collaborate with the healthcare professional in the decision-making process), and a rapid review of the literature evaluating their efficacy. We discuss healthcare decision making for children and adolescents with intellectual disability in the context of relevant recommendations from the recent Disability Royal Commission into Violence, Abuse, Neglect, and Exploitation of People with Disability in Australia. Results Health literacy skills enable individuals to access, understand, appraise, remember and use health information and services. Shared decision making has been described for children with chronic conditions and supported decision making for adults with intellectual disability. Decision-making contributes to how individuals appraise and use healthcare. The rapid review found very limited evidence of outcomes where children and adolescents with intellectual disability have been supported to contribute to their healthcare decisions. Recommendations from the Disability Royal Commission highlight current needs for greater efforts to support and build the capacity of individuals with disability to be involved in the decisions that affect their life, including healthcare decision making. Conclusions Existing rights frameworks and healthcare standards confirm the importance of providing all people with the opportunities to learn and practise health literacy skills including decision making. There is little literature examining interventions for healthcare decision making for children with intellectual disability. Childhood is a critical time for the development of skills and autonomy. Evidence for how children and adolescents with intellectual disability can learn and practice healthcare decision-making skills in preparation for adulthood is needed to reduce inequities in their autonomy.

Background Healing Right Way (HRW) aimed to improve health outcomes for Aboriginal Australians with stroke or traumatic brain injury by facilitating system-level access to culturally secure rehabilitation services. Using a stepped-wedge randomised controlled trial (RCT) design (ACTRN12618000139279, 30/01/2018), a two-pronged intervention was introduced in four rural and four urban hospitals, comprising 1.Cultural security training (CST) for staff and 2.Training/employment of Aboriginal Brain Injury Coordinators (ABIC) to support Aboriginal patients for 6-months post-injury. Three-quarters of recruited patients lived rurally. The main outcome measure was quality-of-life, with secondary outcomes including functional measures, minimum processes of care (MPC); number rehabilitation occasions of service received, and improved hospital experience. Assessments were undertaken at baseline, 12- and 26-weeks post-injury. Only MPCs and hospital experience were found to improve among intervention patients. We report on the process evaluation aiming to support interpretation and translation of results. Methods Using mixed methods, the evaluation design was informed by the Consolidated Framework for Implementation Research. Data sources included minutes, project logs, surveys, semi-structured interviews, and observations. Four evaluation questions provided a basis for systematic determination of the quality of the trial. Findings from separate sources were combined to synthesise the emerging themes that addressed the evaluation questions. Three components were considered separately: the trial process, CST and ABIC. Results The complex HRW trial was implemented to a satisfactory level despite challenging setting factors, particularly rural–urban system dynamics. Patient recruitment constraints could not be overcome. The vulnerability of stepped-wedge designs to time effects influenced recruitment and trial results, due to COVID. Despite relatively high follow-up, including to rural/remote areas, data points were reduced. The lack of culturally appropriate assessment tools influenced the quality/completeness of assessment data. The ABIC role was deemed feasible and well-received. The CST involved complex logistics, but rated highly although online components were often incomplete. Project management was responsive to staff, patients and setting factors. Conclusions Despite mostly equivocal results, the ABIC role was feasible within mainstream hospitals and the CST was highly valued. Learnings will help build robust state-wide models of culturally secure rehabilitation for Aboriginal people after brain injury, including MPC, workforce, training and follow-up.

Introduction: People with disabilities living in group homes often have complex health needs, are high health service users, and may need support from their disability service provider to access health services. Who is it for: This study is relevant to policymakers and service providers (including management and front-line health professionals) in the health and social care sectors. Involvement/Engagement: The study was funded by the Western Australian Department of Health, involving the Disability Health Network, a multi-sector collaboration including consumers, families and carers, health professionals, policy makers and academics aiming to improve health outcomes for people with disability. We worked with a large disability provider (DP) of group homes in Perth, Western Australia to co-design a health appointment form used for all occasions of health service use. What happened: An observational case-study was conducted within the DP between August 2019 and January 2021. De-identified information from each health appointment form was uploaded to a purpose-build surveillance tool in REDCap by delegated staff members from the DP. The health appointment form included details regarding type of and reason for the health service attended, together with information regarding follow-up required, and the level of support provided to the client. Quarterly reports were provided to the DP for the first year, including case examples for high-service users, the focus of this paper. Results: Service use: Over an 18-month period, 3,600 health service visits were attributed to 160 clients (SD=15 Md=20 IQR=10 to 33). The ten most frequent service users collectively had 577 service events (16%). Service use by these clients were largely in the community setting (GP n=232; allied health n=201; mental health n=58; pathology n=27; dental n=15; and private specialist n=14). Use of hospital-based services was limited (outpatients n=17; emergency department n=9; and hospital admission n=4). Follow-up included return appointments (n=91), referrals to other health professionals (n=80), change to medication regime (n=107). Support for accessing healthcare: The DP provided staff to attend with the client on most occasions (support worker n=497; house manager n=58; team leader n=1), with 21 occasions where no staff were required. At times, this support required additional resourcing (94 hours of backfill/overtime). Guardians or medical decision-makers were contacted 289 times requiring an additional 84 hours of staff time, with a medical decision needed 85/289. In most instances, transport was provided by the DP’s organisational vehicle (n=407), with a quarter of service events occurring within the group home requiring no transport (n=153), and remaining transport via ambulance (n=12), family (n=3) and public transport (n=2). Learning and next steps: For people with disability in group homes, DPs are an essential part of the care team. Integrated care requires strong lines of communication between the health service and DP and understanding of the logistical requirements for supporting many clients with diverse health needs. Next steps include: 1.developing guidance for embedding robust processes necessary for effective care plans including optimal preventative care and health information exchange, and 2.building health literacy of the front-line workforce providing support to clients to access healthcare.  

Short introduction/background summary: People with intellectual disability are often not given opportunity to learn about their health, preventative health practices or participate in their health care and related decision-making, despite person-centred care being a key component of integrated care. Why we are conducting a workshop: It is well recognised that effective health care requires a partnership with the patient. However, for many patients who have an intellectual disability, there can be barriers to their involvement which are not of their making. These barriers may include not being given the opportunity to access health education, develop critical health literacy skills, such as communicating about their health or participating in supported decision-making. Barriers also include the lack of appropriate accommodations, such as accessible information, or support for decision-making, as well as health professionals prioritising the voice of others such as family and support workers above that of the person with intellectual disability. This workshop will provide an opportunity to explore best practice examples of support for people with intellectual disabilities with their health journey in community and hospital settings. The workshop will also discover the key priorities from people with lived experience, caregivers, health professionals and system managers regarding supporting people with intellectual disability to receive optimal health care in a person-centred manner. Recommendations for action in terms of resource development and implementation will be produced. Who it is for? This workshop is for people with intellectual disability, caregivers, advocates, health professionals, system managers, and researchers. What we are going to do? The workshop will use a combination of presentations and world café discussions to exchange knowledge and explore experiences in supporting people with intellectual disability. The proposed schedule is as follows: 5’: Welcome, setting the scene and introduction of core concepts 10’: Making information accessible – lessons learned from developing a health curriculum for people with intellectual disability – health curriculum (Mary-Ann & Laura) 10’: OUR role in supporting the person with intellectual disability to participate - upskilling caregivers and health professionals (Rachel) 20’: World café Round 1 – Example questions for each table: How do we make information more accessible for people with low literacy? What best practice examples have you used (beyond the easy read)? What would be helpful for you in your role? 5’: Round 1 reporting to plenary 20’: World café Round 2 – Example questions for each table: What is your approach for effective two-way communication with people with intellectual disability? How do you support people with intellectual disability to participate in shared decision-making? What tools have been helpful? 5’: Round 2 reporting to plenary 10’: Discussion of key messages, recommendations for future research/practice, and useful tools 5’: Summary and concluding remarks. Engagement with the audience: The World café approach will allow participants to engage with and learn from each other’s experiences in supporting people with intellectual disability. Take home messages: Recommendations will be formulated at the end of the workshop and provided to participants.  

IntroductionAboriginal and Torres Strait Islander (hereafter respectfully referred to as Aboriginal) people are Australia’s First Peoples, having the longest continuous culture in the world and deep spiritual connections with ancestral land. Improvements in their health and well-being is a major policy goal of Australian governments, as the legacy of colonisation and disruption of cultural practices contribute to major health challenges. Lack of culturally secure services impacts participation of Aboriginal people in health services. Aboriginal people with a brain injury typically experience poor access to rehabilitation and support following hospital discharge. ‘Healing Right Way’ (HRW) is a randomised control trial aiming to improve access to interdisciplinary and culturally secure rehabilitation services for Aboriginal people after brain injury in Western Australia, improve health outcomes and provide the first best practice model. This protocol is for the process evaluation of the HRW trial.Methods and analysisA prospective mixed methods process evaluation will use the Consolidated Framework for Implementation Research to evaluate implementation and intervention processes involved in HRW. Data collection includes qualitative and quantitative data from all sites during control and intervention phases, relating to three categories: (1) implementation of trial processes; (2) cultural security training; and (3) Aboriginal Brain Injury Coordinator role. Additional data elements collected from HRW will support the process evaluation regarding fidelity and intervention integrity. Iterative cross-sectional and longitudinal data synthesis will support the implementation of HRW, interpretation of findings and inform future development and implementation of culturally secure interventions for Aboriginal people.Ethics and disseminationThis process evaluation was reviewed by The University of Western Australia Human Research Ethics Committee (RA/4/20/4952). Evaluation findings will be disseminated via academic mechanisms, seminars at trial sites, regional Aboriginal health forums, peak bodies for Aboriginal health organisations and the Australian Indigenous HealthInfoNet (https://healthinfonet.ecu.edu.au/).Trial registration numberACTRN12618000139279.

Background/Objectives: Caregivers of individuals with neurodevelopmental and chronic health conditions require health literacy (HL) skills for the long-term management of these conditions. The aim of this rapid review was to investigate the efficacy of HL interventions for these caregivers. Methods: Five databases (Cochrane Central, PubMed, Embase, CINAHL, and PsycINFO) were searched. Studies were eligible for inclusion if they reported the efficacy of any intervention aimed at improving the HL of caregivers of individuals with a neurodevelopmental disorder or chronic condition and assessed caregiver HL. All original intervention study designs were eligible, as were systematic reviews. Studies had to be published in English since 2000; grey literature was excluded. The review was registered before commencement with PROSPERO (CRD42023471833). Results: There were 3389 unique records, of which 28 papers (reporting 26 studies) were included. In these studies, 2232 caregivers received interventions through a wide range of media (online, group, written materials, one-to-one, video, phone, and text messages). Research designs were classified as Levels I (n = 8), II (n = 5), III (n = 2), and IV (n = 11), and the quality of evidence ranged from high to very low. Half (n = 7) of the trials with moderate to high evidence levels reported significant between-group differences in caregiver HL outcomes and/or individuals’ health-related outcomes. Effective interventions occurred across a wide range of conditions, ages, and carer education levels and using a diversity of intervention media. Conclusions: HL interventions for caregivers of individuals with neurodevelopmental and chronic conditions can improve health-related outcomes and caregivers’ HL. Longer and more intensive HL programs may be more likely to be effective, but attention must be paid to participant retention.

Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25−30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar. The pipeline ranked 21/34 previously diagnosed variants as top, with 26 in total ranked ≤7th, 3 ranked ≥13th; 5 failed the pipeline filters. Pathogenic/likely pathogenic variants by ACMG criteria were identified for 22/145 unsolved cases, and a previously undefined candidate disease variant for 27/145. This open access pipeline supports the partnership between clinical and research laboratories to improve the diagnosis of unsolved exomes. It provides a flexible framework for iterative developments to further improve diagnosis.

Background and objective: General practitioners (GPs) are ideally placed to have a much larger role in detection and management of familial hypercholesterolaemia (FH) among their patients. The aim of this study was to seek the reflections of practice staff and newly diagnosed patients with FH on the implementation of an FH model of care in the general practice setting. Methods: Qualitative descriptive methodology was used. Interviews were conducted with 36 practice staff and 51 patients from 15 practices participating in the study. Results: Data were analysed thematically and coded into themes - efficacy of GP training, screening for FH, model of care, patient awareness and cascade testing. Discussion: Findings reflect the real-world clinical experience of Australian general practice and the acceptability of the model of care for both patients with FH and practice staff. Patient health literacy is a barrier to both management of FH and cascade testing. A systematic approach to cascade testing is required.