Caregiver-Reported Economic Impacts of Pediatric Rare Diseases-A Scoping Review.

: Rare diseases are conditions that are individually rare but collectively common. These diseases can incur significant direct and indirect costs with a combination of high medical expenses, loss of income, and additional non-medical costs. Despite this, research into the economic cost for families of children with a rare disease is lacking.

Fathers' Ongoing Journey When a Child in the Family Has a Chronic Condition: A Meta-Synthesis.

This qualitative meta-synthesis was conducted with the aim to understand fathers' experiences and involvement when their child has a chronic condition within family context. Family nurse researchers from five countries identified 19 studies through a systematic search. Inclusion criteria were: (a) fathers as primary informant; (b) children (<19 years) with a chronic condition; (c) written in English, Spanish, French, or Portuguese.

Interventions to support young adults and families with the healthcare transition between paediatric and adult nephrology health services: A systematic scoping review.

Background: Healthcare transition can be challenging for young people and families living with chronic kidney conditions, including those with rare renal disorders who often have multi-systemic conditions, those who have undergone kidney transplantation, and those who face intense treatments like dialysis. Comprehensive, holistic healthcare transition interventions are required, encompassing physical, psychosocial, sexual, educational and vocational support.

Aim: This manuscript presents a systematic scoping review synthesising the healthcare transition interventions to support youth and families within nephrology services.

A qualitative exploration of children's lives with rare diseases.

Background: Rare diseases encompass a diverse group of debilitating and sometimes life-threatening conditions that affect a small percentage of the population, posing a significant public health challenge. Despite their rarity, around 70% of these diseases afflict children, yet limited research has focused on their experiences. This study aimed to gain insights into the day-to-day challenges children living with rare diseases face.

The economic impact of living with a rare disease for children and their families: a scoping review protocol.

Background: Rare diseases are an often chronic, progressive and life-limiting group of conditions affecting more than 30 million people in Europe. These diseases are associated with significant direct and indirect costs to a spectrum of stakeholders, ranging from individuals and their families to society overall. Further quantitative research on the economic cost for children and their families living with a rare disease is required as there is little known on this topic.

The psychosocial implication of childhood constipation on the children and family: A scoping review protocol.

Background: Constipation is a common problem in childhood that can have psychological, emotional, social, and health-related quality-of-life (HRQOL) consequences on children and their families. Primary or functional constipation (FC) has no known underlying pathology but is associated with lifestyle, psychological, and behavioural factors. Misdiagnosis and inadequate management of constipation can result in chronicity that can continue to adulthood, reducing quality of life for the child and their parents/family.

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.

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.

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.

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.

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

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.

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.

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.

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.

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.

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.

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

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 (QCP-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 QCP-Ms in practice; what worked, or did not work for whom, in what contexts, to what extent, how and why? The review will explore if there are benefits of using the QCP-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.

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

Rare diseases are individually rare, but collectively these conditions are common. Research on rare diseases are currently focused on disease-specific needs rather than a life-course perspective. 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.

The impact of COVID-19 on health systems, mental health and the potential for nursing.

This paper offers a perspective on nursing and lived experience responses to the COVID-19 pandemic. It charts health systems and mental health impacts with a particular focus on children and adolescents, older people and people availing of mental health services. Issues of moral distress and the nursing reaction are considered alongside psychological and social concerns which continue to rapidly evolve.

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

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.

Parents' experiences of living with, and caring for children, adolescents and young adults with Mucopolysaccharidosis (MPS).

Background: Many rare diseases of childhood are life-threatening and chronically debilitating, so living with a rare disease is an on-going challenge for patients and their families. MPS is one of a range of rare inherited metabolic disorders (IMDs) that come under category 3 of life-limiting conditions, where there is no curative treatment available at present. Although the study of rare diseases is increasingly novel, and of clinical importance to the population, the lack of empirical data in the field to support policy and strategy development is a compelling argument for further research to be sought.