Health care professionals’ experiences of caring for children with severe epidermolysis bullosa

Maintaining and motivating physical functioning among older adults has substantial health-related benefits, such as reducing the risk of falls and increasing the opportunities for independent living. Supporting preventive actions among older adults also has socioeconomic relevance. Previous studies have shown that digital tools involving video feedback can facilitate reflection and learning by encouraging active engagement. This study aimed to explore health care professionals' experiences of using a video-based tool as part of the rehabilitation to facilitate physical functioning among older adults (aged ≥65 years) living at home. An experience-based co-design approach was used, involving 20 health care professionals. Nine iterative workshops were conducted, followed by 9 group interviews held between 2022 and 2023. The data were analyzed using reflexive thematic analysis. The results from this study captured the experiences of health care professionals using a video-based tool to facilitate physical functioning in older adults living at home. The participants described focusing on supporting patient commitment, creating a shared language to enhance collaboration in the rehabilitation process, and navigating barriers to adopting the video-based tool in practice. From the perspective of health care professionals, video feedback has the potential to improve movement performance in daily activities and may play a crucial role in providing motivation and promoting sustainable physical functioning among older adults. Clinical recommendations include training health care professionals to introduce video feedback in a patient-centered manner and using it to foster shared communication that promotes professional development and patient engagement. Further research is needed to assess the impact of video feedback on older adults' health outcomes and to identify strategies for implementation in complex rehabilitation needs.

BackgroundEpidermolysis bullosa (EB) comprises a group of genetically and clinically heterogeneous diseases characterized by skin fragility and blistering. EB is incurable, and treatment consists of preventing blisters in addition to painful and time consuming skin care, often performed by the parents, in addition to monitoring other symptoms in cases of severe EB.ResultsThe purpose of this study was to explore parental experiences of caring for a child with EB. Data were collected from semi-structured interviews, and analyzed through reflexive thematic analysis. The sample consisted of 15 parents. Our analysis revealed three main themes: Becoming a self-taught provider of home-based skin care; Balancing roles; and Ahead of every challenge. The results indicate aspects of caring for a child with EB that may be under-recognized by healthcare professionals (HCPs) and allied caretakers. Examples of this was extensive home care, learning skin care through trial-and-error, tension between illness-demands and the child’s psychological needs, and parents being gatekeepers of their child’s well-being.ConclusionsCaring for a child with EB may imply practical and emotionally demanding tasks for the parents, and possible unmet healthcare needs. It is important that HCPs recognize and understand the potential burden of extensive home care these parents experience as part of providing for their child with EB and the family.

Background. Epidermolysis bullosa (EB) is a rare genetic skin disorder characterized by fragility of skin with appearance of acute and chronic wounds. The aim of this study was to determine the economic burden and the health-related quality of life (HRQoL) of patients with epidermolysis bullosa (EB) in Spain from a societal perspective.Methods. We conducted a cross-sectional, retrospective study including 62 patients with EB (62% dystrophic, 9.6% junctional, 3.2% Kindler syndrome, and 26% with simplex EB). Data were collected from questionnaires completed by patients or their caregivers. The costs were estimated, including not only direct healthcare costs but also direct non-healthcare costs and productivity losses. We compared severe EB (Dystrophic, Junctional EB and Kindler syndrome) to non-severe EB (simplex EB) using as reference year 2022. HRQoL was measured by generic (EQ-5D) and specific (QoLEB) questionnaires.ResultsThe average annual cost for an EB patient was €31,352. Direct healthcare costs represented 17.2% of the total cost, direct non-healthcare costs (mainly informal care costs) 71.3% and productivity losses 11.5% of the total cost. Participants in the severe EB group had a slightly higher average cost than participants in the non-severe EB group (€31,706 vs. €30,337). Direct healthcare costs and non-healthcare costs were higher in the severe EB group (€6,205 vs. €3,024 and €23,148 vs. €20,113) while productivity losses were higher in the non-severe EB group (€7,200 vs. €2,353). The mean utility index score, where the maximum value possible is one, was 0.45 for patients with severe EB (0.76 for their caregivers) and 0.62 for those with non-severe EB (0.77 for their caregivers).Conclusions. The social economic burden of EB, resulting from the high direct non-healthcare cost of informal care, and from the loss of productivity, accentuates the importance of not restricting cost analysis to direct healthcare costs. This substantiates that EB, particularly severe EB represents a significant hidden cost that should be revealed to society and should be considered in the support programmes for people who suffer from this disease, and in the economic evaluation of new treatments.

Supplementing nutrition in children with severe epidermolysis bullosa (EB) is challenging because of skin and mucosal fragility. Percutaneous endoscopic gastrostomy is contraindicated in EB, whereas more invasive open surgical gastrostomy placement can be complicated by chronic leakage. The aim of the study was to review the efficacy and acceptability, in children with severe EB, of our modified 2-port laparoscopic approach using the Seldinger technique with serial dilatation and tube insertion through a peel-away sheath. Retrospective review of children with EB who underwent laparoscopic feeding gastrostomy at our centre since 2009. Seven children (6 severe generalised recessive dystrophic EB, 1 non-Herlitz junctional EB; 2 girls, 5 boys) underwent modified laparoscopic gastrostomy placement at median age 4.85 years (range 1.0-8.8), with fundoplication for gastro-oesophageal reflux in 1 case, with follow-up for 0.3 to 3.9 years. The procedure was well tolerated with oral feeds usually given after 4 hours and whole protein gastrostomy feeds within 24 hours in 6 patients. Improved growth was reflected in mean weight and height z scores: -1.36 (range -2.6 to 0.5) to -0.61 (range -2.34 to 2.0) and -1.09 (range -2.42 to 1.0) to 0.71 (range -1.86 to 1.0), respectively. Postoperatively, 5 patients experienced minor local complications: minimal leakage without skin damage in 3 and transient peristomal granulation rapidly responsive to topical treatment in 2; this followed acute gastrostomy site infection in 1. There was no leakage after the immediate postoperative period. We conclude that our less-invasive laparoscopic gastrostomy technique is effective and better tolerated in children with severe EB, at least in the medium term, than open gastrostomy placement. Longer follow-up is required.

Epidermolysis bullosa (EB) concerns a heterogeneous group of rare genetic skin fragility disorders that result in chronic blistering and wounding. EB significantly affects the daily lives of patients, as well as their families. While advances in diagnostics are improving the speed and accuracy of EB diagnosis, little is known about the experiences and needs of parents and patients throughout their diagnostic journey. To explore parent and patient perspectives on the EB diagnostic trajectory to gain an in-depth understanding of their lived experiences and needs. Participants were parents of paediatric patients with EB (n = 18) and adult patients with EB (n = 8) recruited from the Dutch EB Registry. After purposive sampling, they participated in semi-structured interviews via video calls to discuss their personal diagnostic trajectory and the subsequent impact of an EB diagnosis on their (family) life. By applying a constructivist approach, a reflexive thematic analysis was executed to facilitate a dynamic and iterative process, involving inductive open coding of transcripts and constant comparison of data. Ten major themes were developed, representing three distinct groups: (i) parents of children with junctional EB and recessive dystrophic EB; (ii) parents of children with EB simplex and dominant dystrophic EB; and (iii) adult patients with localized EB. The EB diagnostic process appeared to have a diversity of emotional consequences, varying from desperation and uncertainty about the future to clarification and confirmation. The urgent need for a timely diagnosis and accurate prognosis was emphasized, particularly by parents of children with an extensive presentation. Parents and patients expressed shortcomings in clinical practice, with severity ratings in current EB disease terminology, in particular, seeming to have an adverse impact on illness perception, healthcare-seeking behaviour, research participation and engagement in peer support. This study describes the lived experience and needs of parents of children with EB and adult patients with EB during the diagnostic process. We found a pressing need to accelerate diagnostics and urge that the EB community should continue working toward ever-faster diagnosis, public awareness and education. While guiding patients along the diagnostic journey, clinicians should focus their support strategies on tailored medical communication while refraining from value-connoted wording.

Molecular Heterogeneity of Blistering Disorders: The Paradigm of Epidermolysis Bullosa

The experiences of health care professionals using new screening tools in clinical and public health settings are crucial to the implementation process. However, further research is needed on their experiences with fall risk screening. This study utilized the integrated-Promoting Action on Research Implementation in Health Services (i-PARIHS) framework to explore health care professionals' experiences with the First-time Injurious Falls (FIF) screening tool, aiming to identify barriers and facilitators for implementing the FIF tool in primary health care and public health settings. A qualitative study with 4 focus group interviews and 7 individual interviews was carried out, using a semistructured interview guide. The interviews were recorded, transcribed verbatim, and analyzed with reflexive thematic analysis. The study included 20 participants (13 females and 7 males), with a mean age of 39years (range 24 to 54). The participants were working in the primary health care setting (8 physical therapists, 3 occupational therapists, 3 managers, 2 registered nurses, and 1 dietician) and in a public health project (1 physical therapist and 2 health educators). The analysis resulted in 3 themes: "a valuable tool in clinical practice," "how to get everyone onboard when implementing fall risk screening," and "applicable in many areas of health services but not in all" with 4 related subthemes "quick and easy to use for all health care professionals," "simplifies assessment and creates a platform for discussion," "need for clear instructions and action list," and "should be incorporated into daily routines." The FIF tool was well-received by participants in practice as it was user-friendly and potentially effective in preventing falls. However, there is room for improvement, particularly in clarifying instructions to mitigate possible misinterpretations. The participants emphasized that implementation of a new screening tool requires favorable organizational conditions such as managerial support, that the tool is easily accessible, and the results are easy to document. The FIF tool seems to be a valuable screening tool for predicting first-time injurious falls in older adults, suitable for use by various health care professionals.

Background: People in receipt of community palliative care usually receive care from a range of services and require access to care 24/7. However, care outside of normal working hours varies, with little understanding of which models of care are optimal. Aim: To identify and characterise current models of out-of-hours community palliative care in the UK and explore healthcare professionals’ views on the barriers and facilitators to providing high quality community out-of-hours care. Design: Exploratory qualitative study using semi-structured interviews, analysed using reflexive thematic analysis. Setting and participants: We recruited 39 healthcare professionals from 20 geographic areas. Participants were service leads from community palliative care, district/community nursing and primary care providers. Results: Four overarching models of out-of-hours palliative care identified, characterised by levels of integration between services, balance between generalist and specialist providers, availability of care and type of care provided (hands-on clinical care/ advisory care). Analysis of barriers and facilitators generated three themes: (1) ‘It’s never one service’: challenges of coordination of care across multiple services, (2) Need for timely skilled management of distressing symptoms, (3) ‘We’re just plugging gaps’: prioritising patient care within limited resources. Patterns within the themes varied across the four models. Conclusion: This study identifies key characteristics of four common models of out-of-hours palliative care, from the perspectives of professionals. Facilitators of high quality out-of-hours care include: a palliative care specific single point of access for patients; formal structures to integrate generalist/specialist services; and timely/skilled management of symptoms. We provide recommendations for a potential model incorporating these factors.

Epidermolysis bullosa (EB) consists of a spectrum of genodermatoses characterised by skin fragility and various degrees of skin and mucous membrane blistering. Minimal trauma and friction can cause extensive blistering in patients with EB, resulting in a number of complications. However, wound management is the main challenge for these patients because of a high risk of infection, fluid loss and potential development of aggressive squamous cell carcinoma (SCC). Indeed, patients with EB have an increased risk for developing skin cancers compared to the general population. In 2012, a home nursing programme was established in Australia to provide assistance to families or patients with severe forms of EB. Nursing care was provided to patients with severe EB during dressing changes in their homes over a period of 2 years. Both families of patients and nurses were surveyed periodically using a developed questionnaire to assess the benefits of this home nursing and its impact on the patients, their families and the nurses. Key findings included a perceived improvement in quality of life, a better provision of support and improved family life management. These findings are the first to highlight the benefits of this national home nursing programme for EB patients within Australia and demonstrate the continued need and benefit of home nursing for patients with severe skin blistering disorders.

Health care professionals experienced multiple uncertainties during the pandemic. Exploring health care professionals' views about collaboration and organizational support can offer insights into organizational processes and issues during the pandemic. This research explored the perspectives of nurses and physicians about organizational support and nurse-physician collaboration during the SARS-CoV-2pandemic. Using a qualitative descriptive design, interviews were conducted with nurses and physicians working in hospital settings. The interviews lasted for 24-61 min. Reflexive thematic analysis was used for data analysis. Nurses and physicians were disappointed with the organizational support, but they were satisfied with nurse-physician collaboration. The theme "Management Abusing Authority and Blaming the Victimized Workforce" included organizational nepotism, unethical managerial actions, and neglecting frontline workforce. Nurses and physicians supported each other in tackling the intensive and complex demands of the pandemic. The theme "Demonstrating Professional Humility and Overcoming Patient Care Issues at Hand" entailed subthemes -negotiating conflicts and prioritizing patient care, practicing kindness, and jointly managing conflicts with patients' families. Nurses and physicians reported frustrations with limited organizational support and abusive practices of managers. Still, they prioritized patient care needs and family-related conflicts over interprofessional tensions.

BACKGROUND Health care professionals often face challenges in providing affirming and culturally competent care to transgender, nonbinary, and intersex (TNBI) patients due to a lack of understanding and training in TNBI health care. This gap highlights the opportunity for tailored educational resources to enhance health care professionals’ interactions with TNBI individuals. OBJECTIVE This study aimed to explore health care professionals’ perspectives on education and awareness of health issues related to TNBI individuals. Specifically, it aimed to identify their needs, challenges, and preferences in accessing and using digital educational resources to enhance their knowledge and competence in providing inclusive and effective care for this population. METHODS A qualitative research approach was used in this study. In total, 15 health care professionals were recruited via convenience sampling to participate in semistructured interviews. Thematic analysis was applied to identify recurring codes and themes. RESULTS The study identified several themes and subthemes related to gender diversity awareness, inclusive communication and understanding the needs of TNBI individuals, societal and structural challenges, regulatory gaps in training and support infrastructure, education and training needs for health care professionals on TNBI care, educational resources and training tools for TNBI care, challenges and design considerations for eHealth tools integrations, and evaluating eHealth impact. Participants identified communication barriers, the need for health care providers to use inclusive language, and gaps in both health care system infrastructure and specialized training for gender-affirming care. In addition, participants expressed a need for comprehensive education on transgender and nonbinary health issues, resources for mental health professionals, user-friendly design, and accessibility features in eHealth tools. CONCLUSIONS The study revealed substantial deficiencies in health care professionals’ knowledge of gender diversity, cultural competency, and the importance of inclusive communication. Addressing the identified barriers and challenges through targeted interventions, such as providing training and support for health care professionals, investing in user-friendly design and data security, and promoting cultural competence in TNBI health care, is essential. Despite integration challenges, eHealth tools have the potential to improve patient–health care professional relationships and access to care.

BackgroundHealth care professionals often face challenges in providing affirming and culturally competent care to transgender, nonbinary, and intersex (TNBI) patients due to a lack of understanding and training in TNBI health care. This gap highlights the opportunity for tailored educational resources to enhance health care professionals’ interactions with TNBI individuals.ObjectiveThis study aimed to explore health care professionals’ perspectives on education and awareness of health issues related to TNBI individuals. Specifically, it aimed to identify their needs, challenges, and preferences in accessing and using digital educational resources to enhance their knowledge and competence in providing inclusive and effective care for this population.MethodsA qualitative research approach was used in this study. In total, 15 health care professionals were recruited via convenience sampling to participate in semistructured interviews. Thematic analysis was applied to identify recurring codes and themes.ResultsThe study identified several themes and subthemes related to gender diversity awareness, inclusive communication and understanding the needs of TNBI individuals, societal and structural challenges, regulatory gaps in training and support infrastructure, education and training needs for health care professionals on TNBI care, educational resources and training tools for TNBI care, challenges and design considerations for eHealth tools integrations, and evaluating eHealth impact. Participants identified communication barriers, the need for health care providers to use inclusive language, and gaps in both health care system infrastructure and specialized training for gender-affirming care. In addition, participants expressed a need for comprehensive education on transgender and nonbinary health issues, resources for mental health professionals, user-friendly design, and accessibility features in eHealth tools.ConclusionsThe study revealed substantial deficiencies in health care professionals’ knowledge of gender diversity, cultural competency, and the importance of inclusive communication. Addressing the identified barriers and challenges through targeted interventions, such as providing training and support for health care professionals, investing in user-friendly design and data security, and promoting cultural competence in TNBI health care, is essential. Despite integration challenges, eHealth tools have the potential to improve patient–health care professional relationships and access to care.

Several new genes and clinical subtypes have been identified since the publication in 2014 of the report of the last International Consensus Meeting on Epidermolysis Bullosa (EB). We sought to reclassify disorders with skin fragility, with a focus on EB, based on new clinical and molecular data. This was a consensus expert review. In this latest consensus report, we introduce the concept of genetic disorders with skin fragility, of which classical EB represents the prototype. Other disorders with skin fragility, where blisters are a minor part of the clinical picture or are not seen because skin cleavage is very superficial, are classified as separate categories. These include peeling skin disorders, erosive disorders, hyperkeratotic disorders, and connective tissue disorders with skin fragility. Because of the common manifestation of skin fragility, these 'EB-related' disorders should be considered under the EB umbrella in terms of medical and socioeconomic provision of care. The proposed classification scheme should be of value both to clinicians and researchers, emphasizing both clinical and genetic features of EB. What is already known about this topic? Epidermolysis bullosa (EB) is a group of genetic disorders with skin blistering. The last updated recommendations on diagnosis and classification were published in 2014. What does this study add? We introduce the concept of genetic disorders with skin fragility, of which classical EB represents the prototype. Clinical and genetic aspects, genotype-phenotype correlations, disease-modifying factors and natural history of EB are reviewed. Other disorders with skin fragility, e.g. peeling skin disorders, erosive disorders, hyperkeratotic disorders, and connective tissue disorders with skin fragility are classified as separate categories; these 'EB-related' disorders should be considered under the EB umbrella in terms of medical and socioeconomic provision of care. Linked Comment: Pope. Br J Dermatol 2020; 183:603.

Epidermolysis Bullosa (EB) is a group of rare genetic disorders resulting in skin fragility and other symptoms. Commissioned by DEBRA International and funded by DEBRA Norway, this evidence-bases guideline provides recommendations to optimise psychosocial wellbeing in EB.An international multidisciplinary panel of social and health care professionals (HCP) and people living with EB was formed. A systematic international literature review was conducted by the panel following the Scottish Intercollegiate Guidelines Network (SIGN) methodology. The resulting papers underwent systematic selection and critique processes. Included papers were allocated to 6 different outcome groups to allow data synthesis and exploration: quality of life, coping, family, wellbeing, access to HCP and pain. Based on the evidence in those papers, recommendations were made for individuals living with EB, family and caregivers and HCP working in the field.Few studies have investigated interventions and which factors lead to better outcomes, but general recommendations can be made. EB is a complex disease impacting enormously on every aspect of psychosocial life. People and families living with EB need access to multidisciplinary support, including psychological guidance, in order to improve quality of life and psychosocial wellbeing. Interventions should stimulate social participation to prevent isolation. People with EB and their families should be able to access a supportive network. HCP should be well supported and educated about the complexity of EB. They should work collaboratively with those around the individual with EB (e.g. schools, employers etc.) to provide psychosocial opportunity and care.Attention should be paid to the psychosocial impact of EB as well as physical needs. Directions for research are indicated.

Background: Patients from the LGBTQ+ community report negative healthcare experiences, such as healthcare professionals (HCPs) making assumptions about their identities. Research shows that HCPs report not having enough knowledge to facilitate an open conversation with patients from the LGBTQ+ community, leading to patients feeling ignored. Aims: To explore HCPs’ experiences of supporting patients from the LGBTQ+ community. Method: Semi-structured interviews were conducted with HCPs recruited from the research teams’ professional network. Data were analysed using deductive thematic analysis. Findings: HCPs reported positive and negative experiences, as well as a variety of barriers and facilitators to effective communication, with patients from the LGBTQ+ community. HCPs discussed how clinical practice could improve, for example, by developing more inclusive training that is specific to the HCPs’ clinical group. Conclusion: HCP training needs to be more inclusive of LGBTQ+ identities. It should be tailored to the HCPs’ patient group as this better reflects the varied needs of different clinical groups. Chelsea Pearce and Claudio di Lorito explore health care professionals’ experiences of supporting LGBTQ+ patients