Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines

Preliminary guideline database searches were undertaken in 2016: https://​www.​ahrq.​gov/​gam/​updates/​index.​html; www.​g-i-n.​net; www.​clinicaltrials.​gov and SIGN [22]. Eight guidelines in other rare conditions were identified. There were no EB guidelines covering psychosocial care.

A systematic literature search regime was conducted by librarians and nine of the panel members. Twelve electronic search engines were accessed: Medline (PubMed MeSH), Embase Emtree PsychInfo, CINHAL, Scopus, Dialnet, Google academic, British Nursing Index, Health management Information consortium (HMIC), Allied and complementary medicine (AMED), Health business elite and the main search engine for the National Institute for Health and Care Excellence (NICE). Figure 1 shows the search terms, inclusion criteria utilising PICOS, and the boolean AND and OR operators used to combine these terms as appropriate. Terms were kept broad, translated and searched for in all engines (Fig. 2).

Cited reference searches were conducted on eligible papers. Ongoing search re-runs were continued up to 1st July 2018. Every member of the panel conducted the filtration step and research appraisal. All articles meeting the criteria for appraisal were included (Additional file 2 copy of filtration and appraisal tool). The flowchart illustrates the inclusion filters applied to all articles identified by the searches (Fig. 3). These filters were discerned from each paper’s abstract and title and, in cases of uncertainty, through KM and SG examining the full articles. One paper in German was filtered by a German speaking volunteer through DI. Articles not meeting the criteria were excluded.

Book chapters, abstracts, presentations and papers which were unpublished or did not meet the methodological filters were retained as gray literature. These were examined to provide context or consider divergence within the main recommendations. Four additional articles were recommended through the review process, these were screened and 3 were excluded as they did not meet the criteria of inclusion.

Two observational studies investigated the impact of EB on QoL in adults and children with all types of EB [28, 30]. They affirm that EB can have a severe impact on QoL with the physical symptoms of EB (such as itching, pain and stinging) having the highest impact on QoL for adults, along with restrictions to social activities and embarrassment due to their skin [28, 30]. Children identified embarrassment as the highest impacting factor, followed by physical symptoms and restrictions to play and activities. People with EBS particularly identified how pain restricted social activities [42].

Further work needs to be established regarding facilitating people with EB to participate in social activities, to enable greater QoL and well-being Although no interventions are investigated in the research, recommendations are that the provision of psychological support and the measurement and monitoring of QoL could be beneficial for people with EB [30, 32, 57] (Table 1i.).

People with EB can have a negative body image due to the visibility of the condition and recognition of being different from others [33‐34]. A negative body image can be related to poorer psychological well-being. Women and younger people with EB may struggle more than men in this respect [33]. For some the visibility of EB, such as on hands and face, can invite scrutiny from others [34, 37, 46] as can the invisibility of EB for others [37]. The social impact of EB due to visible difference or exclusion from activities was most strongly identified in children’s accounts of living with EB [34].

Although there were no intervention-based studies within the literature, the authors recommend that interventions are needed to enable people with EB to have a stronger belief in being able to gain control over aspects of their condition. This can be associated with well-being and improved body image, particularly in children with EB [33]. Having access to knowledge and resources about EB and inviting people with EB to take a collaborative rather than ‘being done to’ approach to their care, can help them to have a greater role in managing their EB. Specific support to help with body image is also advocated.

Transition periods of life were identified as potentially stressful for people with EB, impacting on their well-being and coping. Examples of transitions include changing classes at school and having to inform others about EB [34]. Although there is a lack of research into adults’ experiences, expert opinion and experienced clinicians identify that transitions in adulthood can also give rise to additional stress, such as transitioning from school to university/college or the work place and when developing new relationships. Children with EB and their families can have anxieties around transitioning from paediatric to adult healthcare settings, and regarding building relationships and trust within a new healthcare environment [58]. Transition should be seen as a process, not a single event, and partnership working between the clinical staff in both health settings, community services and family are essential in facilitating a smooth transition [58]. The provision of education, information and support for the individual and their family, from EB professionals, is recommended to help improve psychological well-being during these transition periods [34, 36, 58] (Table 1.ii.).

There is limited research on the interaction between the impact of EB on the family unit and the person living with EB, and none looking at this into adulthood. The impact of EB on the family unit can, however, be profound and recommendations regarding the family’s psychosocial needs are covered below. Based on clinical experience and the expertise in the panel, it is likely that the nature of EB will impact on early attachment relationships and bonding within the family unit. The need for psychosocial support for the person with EB as part of a family unit is therefore advocated for all types of EB diagnosis [37] (Table 1.iii.). People with EB can struggle with a sense of difference compared to others in their family, and their family life may be different to that of other families. Empowering those around the individual to understand EB may help. Having access to peer relationships with other families and people living with EB may help provide a sense of being understood, alongside education being available to those around the person with EB and their family; though not all individuals or families may wish to access this resource [38, 39]. DEBRA events and online social media support networks could also be beneficial [35, 36].

The strongest conclusion to be drawn from this review is that pain is a key theme for many people affected by EB. The limited literature indicates that pain can have a negative effect on children and adult’s QoL and psychosocial well-being [59]. Most people with EB have pain due to their skin wounds and other extracutaneous symptoms. This can be severe and unrelenting, with aspects of treatment often being linked to painful procedures. The pain itself can have profound effects, being associated with frustration, embarrassment, anxiety, sadness and, especially for children, fear [3, 14, 37, 40, 42]. Pain impacts on friendships and family relationships. Activity related pain can restrict many areas associated with positive psychosocial well-being and coping; such as social participation, having access to peer relationships, occupation, meaningful activities, and maintaining friendships [3, 37, 40]. ^⇒ It is therefore important that support is given to manage not just the pain itself, but also its impact psychologically and socially, and that all possible is done to manage pain in accordance with pain management guidelines [7].

There is much within general non-EB specific literature on psychosocial techniques for managing pain. There are reviews regarding interventions for paediatric pain [60, 61], other sources [62, 63] and the ^⇒British Pain Society Guidelines for pain management programmes for adults which may be helpful resources [64].

These psychosocial aspects to pain management could be applicable to the EB population but no intervention studies explore this generalizability. Indeed, people with EB describe coping with pain by “blocking it out” or distraction [40, 42] and some studies suggest a limited use of techniques such as deep breathing and relaxation by people with EB [40]. We recommend that pain management is a priority within clinical management and research aimed at improving the psychosocial well-being of people with EB (Table 1.iv.).

People with EB develop individualised ways of coping with the condition. Themes within the literature associated with coping include having a sense of self-management, therefore control, over aspects of their condition and treatment; particularly for children with EB [37]. This is echoed in the recommendation for a collaborative approach to healthcare outlined below.

Wherever possible support and help to participate as fully as possible in social life needs to be advocated. This includes at school, within the community and, as an adult, within opportunities for employment and a role within society. Whilst there is an ongoing struggle and need to achieve a balance between activity and risk of skin damage for many people with EB, access to social participation is highlighted by both adults and children with EB as important parts of their coping with the condition [32, 34, 45]. Such activity also allows access to other forms of coping such as friendships and support networks. In childhood this socialisation and mastery of activities is important in meeting developmental milestones and psychosocial development.

One of the barriers to participation in activities and social roles can be a perceived or actual lack of understanding of others regarding the needs of people with EB. Support and education in this regard can help, such as public campaigns and, more specifically, support within schools and for employers to understand how they can assist [34]. Communication within the family unit, alongside confidence in communicating about EB to others is important, particularly in childhood for building social confidence [37, 45, 46] (Table 1.v.).

Multiple studies suggest that being able to access a MDT of professionals, providing treatment and advice on the medical and psychosocial aspects of EB across the lifespan, is key for improving psychosocial well-being, coping and QoL for people with EB [38, 40, 47‐50]. Having a team of people who can work collaboratively with the person with EB and, especially in the case of children with EB, their family and carers, can help provide a sense of support and ease the burden of EB in everyday life [29, 37, 50, 51]. This is also echoed in the other recommendations around education and advice to improving self-management of EB to aid a sense of self-efficacy and control over the condition. Having professionals who are trained in recognising, understanding and helping with psychosocial issues is paramount and may also help in forming a supportive collaborative relationship [47, 49, 56] (Table 1.vi.).

Life with EB has a significant impact on the entire family and can lead to an impairment in the QoL for both the child and parents [17, 29, 46, 52, 53, 56]. The main determinants associated with QoL for the family of a child with EB are [1] the severity, extent, unpredictable course and (in) visibility of the disease [2], the pain and poor QoL of the child [3], restrictions in employment and leisure time [4], never being off duty and [5] ignorance and lack of skills of care providers [17, 29, 30, 52, 51]. Findings show early psychosocial assessment and monitoring can improve QoL of the entire family of children with EB, regardless of which sub-type and the expected life span [17, 29, 30, 38] (Table 2 .i.).

Many studies have identified the impact of EB on the physical and emotional well-being of parents and caregivers. This includes difficulties in organizing care, problems within their own relationship, having less energy, the unpredictability of the disease and associated difficulties with planning, both in the short and long-term. These problems can affect the whole family, impacting on each member’s ability to achieve their desires and significantly lowering their level of life satisfaction [17, 51, 65] (Table 2. ii.).

Several studies emphasise the importance of early, extensive and long-term support for parents or caregivers which could involve [1]: home nursing to provide relief and help for primary caregivers and could reduce the need for hospital admission [2], provision of information on the nature, course and outcome of the patient’s disease [3], training of relatives in the management of patient symptoms and in the reinforcement of relatives’ social networks [4], and the use of social media [30, 36, 50, 52]. (Table 2. ii.). A study further explores how online communities could be a particularly helpful way for people with EB to share experiences and gain social support in a manageable way across the world [64].

The reaction of family members to the condition seems to be psychologically assimilated by their children and can impact on them as adults living with EB. This shows that it is important to make parents aware of how their reaction to their child’s illness affects the well-being of the whole family [53, 54] (Table 2. ii.).

The potential impact of EB on the QoL and well-being of parents with children who have EB, increases the risk of a breakdown of the entire family unit. To prevent a family breakdown, several studies recommended helping families managing life with EB, strengthening family relationships and especially supporting single parents or female carers who may require more support [16, 17, 30, 38, 50, 52]. It is particularly recommended that parents place importance on, and pay attention to, securing their own leisure time, holidays and social life to prevent a breakdown of the family unit [55] (Table 2. iii.).

Access to health professionals and EB networks is recommended, where patients and caregivers can receive appropriate treatment, information and training regarding the day-to-day management of their EB, and have the possibility to discuss personal experiences; for example at family weekends or workshops for parents and patients [17, 29, 39, 50, 51, 66, 67] (Table 2. vi.).

Parents experience great stress due to inadvertently inflicting pain on their child when managing their daily care. The challenge of ‘switching’ roles between being caregiver and parent can require increased efforts to cope, not only with physical tasks but also cognitive and emotional challenges [17, 51, 65, 68]. Support programs or a care manager should [1] encourage parents to establish a normal routine for the child and family [2] dedicate time for themselves and as a couple to help coping [3] create a support network with the spouse, extended family, medical staff and respite opportunities from care [16, 17, 69] (Table 2. iv.).

Coping with pain is interlinked with living with EB from birth. Pain can result in negative effects on relationships within the family [40, 42]. It is the primary concern for caregivers who helplessly observe the wounds on the child’s body and worry about causing pain as a consequence of providing the care their child requires [17, 40, 65]. Often parents separate their emotions during painful tasks to cope [17]. Alternatively, they do not get involved in the daily dressing routines, which can have a positive impact on the family unit [40]. Formal expert assistances to support people living with EB to become more independent with dressings, as well as opportunity to access to outside carers, would support the family unit [40] (Table 2. v.).

Access to health care professionals within the hospital and community has been recommended, though most of the studies in this area focus on supporting children with EB [49] (Table 3. i). Professionals need to feel they have adequate expertise and training to manage the complexities of EB. There will naturally be limits to the resources available and it is important to identify when other services may be better placed to offer support. Increased awareness and education is needed to equip non-EB specialist community services to respond to the wide range of physical and psychosocial needs of individuals with EB and their caregivers. Online community platforms could form a helpful way to disseminate EB related factual information [64], though reliance on online and telehealth platforms may need to be avoided when physical medical examination by specialists forms a crucial part of EB medical care.

Studies have also made recommendations regarding the process of supporting adults with EB [14, 38, 40, 70]. Physicians need to acknowledge “the active role of the patients as an informed, involved and interactive partner in the treatment process” [70]. Professionals providing medical intervention need to support patients to develop confidence and motivation to use their own skills and knowledge, enabling them to take effective control over managing their condition. Adults with EB often view themselves as “experts yet also valuing the expertise of others” [40]. EB care needs to be viewed as “a partnership” between individuals with EB and healthcare professionals. Striking a balance between maintaining and valuing self-efficacy in managing EB, whilst promoting access to support and specialist intervention, is very important. Professionals providing these services would benefit from training in working with people with rare conditions. In particular, the process of supporting assertive and well informed patients, as well as patients who decline or struggle to engage with healthcare services (Table 3. ii).

Clinicians working in the area also benefit from access to professional support [32]. EB professionals often work in isolation and this is not good for their own psychological health. Access to clinical supervision, skills training in recognising psychosocial difficulties and access to multidisciplinary team support are important considerations. This is an important recommendation to consider the deep emotional impact that HPCs can encounter when working in EB care [71]. A range of professional are involved in EB care at specialist hospital, community and voluntary settings; it is important that all involved have access to shared support and supervision. Issues around professional limitations, difficulties and boundaries need to be acknowledged and discussed openly rather than managed in isolation (Table 3. iii).

The authors acknowledge limitations with this CPG. The panel is formed from international volunteers from the EB community. They are experts in EB but not on CPG methodology. The contribution of a methodology expert to the panel has, however, sought to ensure a high quality robust methodology process. As EB is a rare condition there is a limited numbers of volunteering experts, also people living with EB can be very unwell very quickly, and professional’s clinical responsibilities take priority. This can all add some limitations and challenges but despite this all panel members were encouraged to participate in all stages of developing these recommendations; to promote ecological validity and ensure an inclusive approach.

The CPG focuses only on summarising the published papers and gray literature identified by the search process. This is presented within the context of the primary six outcomes and utilises only EB specific papers. There may well be an overlap regarding the psychosocial difficulties experienced by people with EB and their families, and other conditions or groups of people: such as, for example, people with other physical differences, rare diseases or life-long, painful or and fluctuating conditions. A next step may be to look at the literature in these areas to see if it can be generalised to EB populations. The EB community, in terms of people with EB, their families and professionals, is a small one. The individuals forming the review panel all chose to not be anonymous with their feedback. Whilst the authors’ names were hidden from the review panel, it is likely that some may have known the people writing this review. The implication for the peer review process is unknown. This may be taken as a strength, allowing the writing panel to follow up any comments and points made directly, but it may be a limitation in that the review panel may not be seen as wholly ‘independent’ from the authors. With funding for clinical care being limited, with a keen focus on funding for research into physical care, the authors acknowledge that the review panel may carry their own biases regarding their interpretation of the guidelines, their support for its publication, or may be competitors with biases towards the centres involved in this guideline.

This guideline highlights the need for further high-quality research, to understand how best to support and manage the psychosocial needs and coping of people living with EB and their families. Present research goes some way towards understanding the nature of the psychosocial challenges presented by EB, but little is known about how to actually address or manage these effectively. Whilst there is evidence supporting psychosocial interventions for a range of difficulties commonly experienced by people with EB, in areas such as pain management, anxiety and social interactions, there is limited research investigating the application of these to an EB population. There is a lack of focus on adulthood as opposed to managing EB in childhood, and EBS is also under-represented. Two areas of research paucity therefore include studies evidencing interventional approaches and on the management of psychosocial difficulties into adulthood. The rarity of EB may lead to difficulties with small and heterogeneous samples, making quantitative studies complex: international collaborations may be explored as an option to help.

The research questions and areas have emerged as requiring further investigation (Fig. 6):

DEBRA International aims to ensure that the EB guidelines address the needs of patients internationally. These guidelines will be translated into other languages and patient versions will be made to aid accessibility.

These guidelines could be disseminated and promoted through education for professionals and considering how they could be incorporated into clinical practice. The guidelines were presented at the International DEBRA Congress 2018. The implementation and impact of these recommendations could be monitored and evaluated through audits, education programme registration, and the CPG Evaluation Form: Pre implementation (Additional file 3). The panel recommends sites to pre-audit practice, implement the CPG and re-audit to test improvement, audits tools can be used from SIGN. DEBRA International would value your feedback on the findings to continue to improve CPG quality.

The guidelines should be updated every 3–5 years or if there is a significant breakthrough in EB psychosocial care from the publication date. We recommend a re-run of search terms to see if a full review is warranted at this point.