Interventions to support adolescents and young adults with the healthcare transition from paediatric to adult nephrology health services: A scoping review protocol.

Background: Due to technological advancements and improved medical management of adolescents and young adults (AYAs) living with renal disease, there has been an exponential increase noted in the number of patients advancing from the paediatric to the adult nephrology healthcare setting. Subsequently, more AYAs are required to undergo the process of healthcare transition from paediatric to adult healthcare services. This process can be a challenging period for young people and families and is often associated with a decline in physical and psychosocial health outcomes of AYAs with renal disorders. To ensure a successful transition, AYAs must develop the ability to manage their renal condition, including the medical and psychosocial aspects of their condition, independently. Despite significant research into the transition from paediatric to adult healthcare for this unique patient cohort, the transition period remains a challenge at times. This scoping review aims to map, explore, and understand the interventions that are currently available to offer positive perceptions and experiences of transition for both AYAs living with renal disorders and their families. Methods: A systematic literature search will be conducted of PubMed, PsycInfo, CINAHL, ASSIA, EMBASE and Web of Science databases from the year 2000 to present. Two independent reviewers will screen the peer-reviewed literature obtained and assess them against the inclusion criteria to determine their inclusion eligibility. Data will be extracted and synthesised using a template refined by the authors. The scoping review will be undertaken in accordance with PRISMA-ScR guidelines. Data will undergo a formal critical appraisal using recognised appraisal tools. Conclusions: Through mapping this knowledge, the scoping review will aim to identify interventions that are currently available and identify gaps within the literature. This evidence may support the development of transitional care interventions in the future, promote patient satisfaction, and improve patient outcome measures and experiences.

Fathers' Experiences of Caring for a Child with a Chronic Illness: A Systematic Review.

The prevalence of children living with chronic health conditions is increasing worldwide and can disrupt family roles, relationships, function, and parental involvement in family caregiving. The purpose of this systematic review was to explore fathers' experiences and involvement in caring for a child with a chronic condition. Systematic searches using seven databases were conducted. Study criteria included (1) peer-reviewed original research in English, Spanish, French, or Portuguese, (2) children less than 19 years of age with a chronic condition, (3) fathers (biological or guardian) as direct informants, and (4) outcomes addressing fathers' experience, perceptions, and/or involvement in the child's care. Data were synthesized from ten articles reflecting eight separate studies that utilized quantitative designs. Three areas of focus were identified: Family Functioning, Father's Psychological Health, and Need for Support. Data suggested increased involvement from the father in caring for their child with a chronic condition was associated with improved family functioning, increased anxiety and distress, decreased self-esteem, and increased need for support. This review revealed a paucity of data regarding fathers' experiences and involvement when caring for a child with a chronic condition, with that available primarily from developed countries. Rigorous empirical studies are needed to deepen understanding of how fathers are involved in the care of their child with a chronic condition.

Children and young people's experiences of living with rare diseases: An integrative review.

PROBLEM: Rare diseases are any disease affecting fewer than five people in 10,000. More than 8000 rare diseases and 50-75% of all rare diseases affect children. The purpose of this review was to critically appraise and synthesize existing literature relating to the impact of rare diseases on children's day-to-day lives. ELIGIBILITY CRITERIA: An integrative literature review was conducted using the CINAHL Plus, PsycINFO, and PubMed databases. Studies were included if they were a primary source was published between the years 2005 and 2019 and written in the English language. SAMPLE: Eight primary sources met the inclusion criteria. RESULTS: Seven main themes emerged from the review as follows: (i) the experience of stigmatisations, (ii) self-consciousness, (iii) restrictions in independent living, (iv) developing resilience/coping strategies, (v) psychological and emotional impact, (vi) social impact vs social connectedness and (vii) transition challenges. CONCLUSIONS: The experience of having a rare illness differed across different age groups. Children (typically aged 3-10) with rare diseases generally view themselves and their lives the same way like their healthy peers. They were more likely to report being adaptive and resilient than those aged 12 or older. Young people reported being different compared to young children, and they faced numerous challenges related to their illness. IMPLICATIONS FOR PRACTICE: To provide the best possible level of care for children and families with rare disorders, health services must be informed and equipped to provide the necessary supports specific to the unique needs of children and young people living with rare diseases.

Living through liminality? Situating the transitional experience of parents of children with mucopolysaccharidoses.

BACKGROUND: Mucopolysaccharidoses (MPS) are rare inherited metabolic disorders that come under category three of life-limiting conditions. Children born with this condition show no symptoms at birth, but its effects show as a progressive disease in subsequent years. The severity of the condition varies according to the specific type, ranging from very mild symptoms to, in most cases, complex healthcare needs, including mental and physical disabilities. AIMS: This study aimed to elucidate the meanings of the transition experience of being a parent of a child with MPS. Van Gennep's three-stage rite of passage theory and Turner's theory of liminality were utilised to understand these families' transition experiences are learning to live with their child's ongoing progressive illness trajectory. METHODS: A qualitative design utilising hermeneutic phenomenology was used. Longitudinal qualitative in-depth interviews were carried out with eight parents at a three-time point over 17-months period. RESULTS: This study provided an interpretation of the lived experience of parents of children and young adults with MPS. As such, it embraces a liminal experience of living with a rare life-limiting illness and the unique passage to becoming a parent of a child with MPS. Parents reported their experience of transition from being the parent of a normal healthy child to be the parent of a child with MPS. They described their transition experience as multi-faceted and complex, neither linear nor time-bound, but rather cyclical. CONCLUSION: The rites of passage conceptual framework helped to identify specific and significant unmet supportive and social care needs of these families and their children. This information will enhance the development of a substantial support system to meet the family's emotional, psychological and social needs during the illness transitions from diagnosis and throughout their illness journey.

Prevalent practices amongst healthcare professionals in paediatric settings in using medical interpreters for families with limited national language proficiency: A narrative scoping review.

Background: Where language barriers exist, trained medical interpreters provide more accurate and comprehensive communication between clinicians and service users compared to ad hoc interpreters or no interpreter at all. The nature and extent of research evidence about when and how medical interpreters are used by health professionals in paediatric settings to mediate communication with families who do not speak the national language proficiently have not yet been published. Aim: To examine the potential size and scope of available research literature about the prevalent practices of healthcare professionals in using medical interpreters in paediatric settings for families with limited national spoken language proficiency. Methods: We used an established framework for scoping reviews, including suggested modifications by JBI. Precise eligibility criteria were identified, and a comprehensive search strategy was applied. Sources of evidence were confined to primary research that spoke specifically to the research question. The process of study selection and results are presented narratively and in tabular form. Two reviewers independently engaged in the screening process, and two reviewers undertook a full paper review of the included articles, with a third consulted where an additional opinion was required. Results: We included 21 studies published between 2000-2022, most using (quantitative) survey methods. Key results captured in six themes are as follows: medical interpreters tended to be underused by health professionals, especially nurses; time was the greatest impediment to their use, but so too were difficulties with the perceived quality of interpreter services; technology was used for medical interpreting at some study sites with mixed responses; use of unauthorised interpreters was widespread; language barriers impacted on the care provider and family relationship; and cost of interpreter services tended not to be reported as a barrier to their use. Conclusions: Further scholarship is needed to understand the use of medical interpreter services with reference to the complexity of health work, as well as the social context of inequality for many families with limited national language proficiency accessing paediatric healthcare. Recent developments in video technology offer promise in improving interpreter use but require oversight for quality. We have highlighted the need for better training for and regulation of medical interpreters and clinical guidelines on the use of interpreters by healthcare professionals.

A Rapid Realist Review of Quality Care Process Metrics Implementation in Nursing and Midwifery Practice.

Quality measurement initiatives promote quality improvement in healthcare but can be challenging to implement effectively. This paper presents a Rapid Realist Review (RRR) of published literature on Quality Care-Process Metrics (QCP-M) implementation in nursing and midwifery practice. An RRR informed by RAMESES II standards was conducted as an efficient means to synthesize evidence using an expert panel. The review involved research question development, quality appraisal, data extraction, and evidence synthesis. Six program theories summarised below identify the key characteristics that promote positive outcomes in QCP-M implementation. Program Theory 1: Focuses on the evidence base and accessibility of the QCP-M and their ease of use by nurses and midwives working in busy and complex care environments. Program Theory 2: Examines the influence of external factors on QCP-M implementation. Program Theory 3: Relates to existing cultures and systems within clinical sites. Program Theory 4: Relates to nurses' and midwives' knowledge and beliefs. Program Theory 5: Builds on the staff theme of Programme Theory four, extending the culture of organizational learning, and highlights the meaningful engagement of nurses and midwives in the implementation process as a key characteristic of success. Program Theory 6: Relates to patient needs. The results provide nursing and midwifery policymakers and professionals with evidence-based program theory that can be translated into action-orientated strategies to help guide successful QCP-M implementation.

Children as innovators: harnessing the creative expertise of children to address practical and psychosocial challenges of the coronavirus disease 2019 (COVID-19) pandemic - COVISION study protocol.

Background: We are currently in a period of transition, from the pre-COVID-19 (coronavirus disease 2019) era and the initial reactive lockdowns, to now the ongoing living with and potentially the after COVID-19 period. Each country is at its own individual stage of this transition, but many have gone through a period of feeling adrift; disconnected from normal lives, habits and routines, finding oneself betwixt and between stages, similar to that of liminality. Children and young people have been particularly affected. Aim: To increase the understanding of home and community-based strategies that contribute to children and young people's capacity to adjust to societal changes, both during and after pandemics. Moreover, to identify ways in which children's actions contribute to the capacity of others to adjust to the changes arising from the pandemic. The potential for these activities to influence and contribute to broader social mobilisation will be examined and promoted. Research design: To achieve the aim of this study, a participatory health research approach will be taken. The overarching theoretical framework of the COVISION study is that of liminality. The study design includes four work packages: two syntheses of literature (a rapid realist review and scoping review) to gain an overview of the emerging international context of evidence of psychosocial mitigations and community resilience in pandemics, and more specifically COVID-19; qualitative exploration of children and young people's perspective of COVID-19 via creative outlets and reflections; and participatory learning and action through co-production.

The use of music for children and adolescents living with rare diseases in the healthcare setting: a scoping review study protocol.

Background: Interest in the application of music in the health, social care and community contexts is growing worldwide. There is an emerging body of literature about the positive effects of music on the well-being and social relationships of children and adult populations. Music has also been found to promote social interaction, communication skills, and social-emotional behaviours of children with medically complex care needs. Despite significant advancements in the area, to the authors' knowledge, this is the first scoping review to investigate the evidence for using music therapy and music-based interventions for children living with rare diseases in the healthcare setting. Therefore, the purpose of this study is to conduct a scoping review of the literature to map out the existing studies about the use of music therapy and music-based interventions with children who have rare diseases in the healthcare setting. This review will also identify gaps in current knowledge and use of these interventions. Method: This study follows the Joanna Briggs Institute's methodology for scoping reviews, utilising Arksey and O'Malley's six-stage scoping review framework: 1) identifying the research question; 2) identifying relevant studies; 3) study selection; 4) charting the data; 5) collating, summarising and reporting results; and 6) consulting with relevant stakeholders step. A comprehensive search will be conducted in CINAHL Complete; MEDLINE Complete; Psychology and Behavioral Sciences Collection; and PubMed Central databases. A search strategy with selected inclusion and exclusion criteria will be used to reveal a wide range of evidence. This study will include quantitative, qualitative and mixed research methods studies published in English from 2010 to 2020.

IMPACT study: measuring the impact of caregiving on families and healthcare professionals of children and adults living with mucopolysaccharidoses in Ireland.

Introduction: Disease trajectories are often uncertain among individuals living with mucopolysaccharidoses (MPS) due to the progressive nature of the illness and the goal of care. This study investigated the impact on caregivers and care providers of children and adults living with MPS. Methods: The study used a cross-sectional design and a convenience sampling strategy which involved two sequential study components. The stage 1 quantitative component included three validated scales: the abbreviated World Health Organization Quality of Life (WHOQOL-BREF), the Paediatric Inventory for Parents (PIP) and the 14-item Resilience Scale (RS-14). The stage 2 qualitative component consisted of two focus groups with healthcare professionals (HCPs) (n = 9) working with children and adults living with MPS across three clinical sites in Ireland. Data were collected between November 2017 and July 2019. Results: A total of 31 parents identified as caregivers participated in this study. The mean quality of life (QoL) score was 93.81, indicating a significantly high QoL. The PIP frequency total mean was 102.74 and difficulty mean 104.94. The mean score for the RS-14 was notably high, 81.42 out of a maximum of 98. The majority of the results showed high levels of concern for the future, with just under 50% finding themselves very often feeling scared that their child's condition will deteriorate or that their child will die and finding these thoughts very difficult. The healthcare professionals' (HCPs) perceptions were focused on the complexity of MPS, coping strategies, managing expectations and support services. Conclusion: The overall findings of the study reinforced the need for sustained and enhanced psychological support to ensure both families of children and adults living with MPS and the HCPs are supported in the continued delivery of quality patient care and outcomes. Subjective and objective measures from family caregivers and HCPs yield results that can decrease stress and improve psychological support. Plain language summary: Impact of caregiving on families and healthcare professionals of children and adults living with mucopolysaccharidoses in Ireland Mucopolysaccharidoses (MPS) is a group of one of the many rare inherited metabolic disorders that come under category three of life-limiting conditions. Children born with this genetic condition show no change at birth, but effects start to show in subsequent years as it is a progressive disease. The severity of the condition varies according to the specific type, ranging from very mild symptoms to, in most cases, multisystemic, restricted growth or mental and physical disabilities. Recent developments in treatments for some forms of MPS have dramatically changed the quality of life (QoL) for patients. Other forms of treatment are currently under investigation and development. This study aimed to provide a detailed and reliable evidence base on the impact of caregiving for patients living with MPS on family caregivers and healthcare providers. Paper questionnaires were completed by the family caregivers of children and adults living with MPS. These three questionnaires focused on measuring QoL, parental stress and anxiety, and resilience among these families. Two focus group interviews were carried out with healthcare professionals working with children and adults living with MPS across three clinical sites in Ireland.A total of 31 parents completed the questionnaires in this study, indicating a significantly high QoL and notably high resilience. The majority of the parental stress results were related to concern for the future, with just half of the families finding themselves very often scared that their child's condition will deteriorate or that their child will die and find these thoughts very difficult. The healthcare providers also spoke about the complexity of MPS, coping strategies, managing expectations and support services for the families of children and adults living with MPS. This study provided evidence for clinicians and policymakers to improve the availability of appropriate healthcare provisions for people living with MPS and their families.

Rare Disease Research Partnership (RAinDRoP): a collaborative approach to identify research priorities for rare diseases in Ireland.

Background: The Rare Disease Research Partnership (RAinDRoP) was established in 2018 to bring together a wide variety of diverse voices in the rare disease community in Ireland and form a research partnership. This approach enabled clinicians, patients, carers and researchers to work together to identify top research priorities for rare diseases, which focused on a life-course perspective rather than a disease-specific need.                                                                                                           Methods: A participatory multiple phase approach was used to identify research priorities for rare diseases. The research process involved three main phases: Phase I, Public Consultation Survey on Research in Rare Diseases in Ireland (PCSRRDI); Phase II, Research Prioritisation Workshop (RPW); Phase III, Follow-up Public Consultation and Prioritisation Survey (FWPCPS). Results: In total, 240 individuals completed the phase I PCSRRDI, which comprised of a cross-section of health care professionals, researchers and people living with rare diseases. One thousand and fifteen statements were collected, reflecting issues and shared challenges in rare diseases. A shortlisting step by step was used to identify any statements that had received a total score of above 50% into 10-12 researchable questions or statements per the theme for the phase II workshop. Phase II was focused on three main themes: (1) Route to Diagnosis, (2) Living with Rare Disease, (3) Integrated and Palliative Care. In total, 62 individuals attended the overall workshop; 42 participated in the prioritisation sessions. A cross-section of health care professionals, researchers and people living with rare diseases were engaged at each workshop. Seventy-five individuals completed the final phase III public ranking by priority responses, and they ranked the top 15 research priorities defined by the multi-stakeholders at the phase II consensus meeting. Conclusions: This study identified priorities for rare diseases research aimed at improving the health and wellbeing of people living with rare diseases.

Health inequities in unscheduled healthcare for children with intellectual disabilities in Ireland: a study protocol.

Background: Health inequities for children with intellectual disabilities  are prevalent within different health systems, and children with intellectual disabilites  have shorter life expectancies than the general population, higher mortality rates before the age of 17 and have a greater risk of potentially preventable hospitalisations. A health systems approach to research in this area provides a useful means through which research can inform policy and practice to ensure people with intellectual disabilities receive equitable healthcare; however, there is a paucity of evidence regarding how to address differences that have been described in the literature to date. The overall aim of this research is to establish the extent of health inequities for children with intellectual disabilities  in Ireland compared to children without intellectual disabilities with respect to their utilisation of primary care and rates of hospitalisation, and to gain a better understanding of what influences utilisation of primary care and emergency department services in this population. Methods and analysis: The design of this research adopts a multi-methods approach: statistical analysis of health data to determine the extent of health inequities in relation to healthcare utilisation; discrete choice experiments to explore General Practitioners' decision making and parental preferences for optimal care; and concept mapping to develop consensus between stakeholders on how to address current healthcare inequities. Discussion: By applying a systems lens to the issue of health inequities for children with intellectual disabilities, the research hopes to gain a thorough understanding of the varying components that can contribute to the maintenance of such healthcare inequities. A key output from the research will be a set of feasible solutions and interventions that can address health inequities for this population.

Quality care process metrics (QCP-Ms) in nursing and midwifery care processes: a rapid realist review (RRR) protocol.

Background: In 2018, the Office of the Nursing and Midwifery Services Director (ONMSD) completed phase one of work which culminated in the development and launch of seven research reports with defined suites of quality care process metrics (QC-Ms) and respective indicators for the practice areas - acute care, midwifery, children's, public health nursing, older persons, mental health and intellectual disability nursing in Ireland. This paper presents a rapid realist review protocol that will systematically review the literature that examines QC-M in practice; what worked, or did not work for whom, in what contexts, to what extent, how and why? Methods : The review will explore if there are benefits of using the QC-Ms and what are the contexts in which these mechanisms are triggered. The essence of this rapid realist review is to ascertain how a change in context generates a particular mechanism that produces specific outcomes. A number of steps will occur including locating existing theories on implementation of quality care metrics, searching the evidence, selecting relevant documents, data extraction, validation of findings, synthesising and refining programme theory. This strategy may help to describe potential consequences resulting from changes in context and their interactions with mechanisms. Initial theories will be refined throughout the process by the local reference panel, comprised of eight key intervention stakeholders, knowledge users such as healthcare professionals and an expert panel. Ethical approval is not required for this rapid realist review. Conclusion: It is anticipated that the final programme theory will help to explain how QC-Ms work in practice; for whom, why and in what circumstances. Findings of this review could help to give insights into realism as a framework and how nursing and midwifery QC-Ms have been implemented previously.