End of Life in Boys and Young Men With Duchenne Muscular Dystrophy – The Perspective of Dying Men and Their Families: A Systematic Review and Thematic Synthesis of Qualitative Evidence

Abstract

Understanding the perceptions and experiences related to the end of life (EoL) of boys and men with Duchenne muscular dystrophy from their own and/or family perspective is limited based on the available qualitative empirical studies. This systematic review was done with a thematic synthesis of qualitative evidence according to the PRISMA Statement Guidelines and the SPIDER search tool. The review included empirical, qualitative, and relevant full-text studies published in 2000–2023 in the EBSCO Discovery Service, ISI Web of Science, Scopus, PubMed, and ProQuest databases. From o total of eight included qualitative studies, four main key themes were identified: “Being a parent/caregiver” – psychosocial aspects, needs, and experiences; “Communication about EoL with healthcare and other professionals” – positive experiences and personal shortcomings; “Discussions about…” – the issue of EoL, dying and death; and “End of life” – end-of-life care, planning and the need for palliative care.

Keywords

end of life dying Duchenne muscular dystrophy palliative care psychosocial needs caregivers qualitative review

Introduction

Duchenne muscular dystrophy (DMD) is the most severe of the nine forms of muscular dystrophy (Glover et al., 2020), leading to severe disability and premature death (Sinadinos et al., 2015). It is a rare, devastating neuromuscular illness caused by the absence of the dystrophin protein resulting in severe muscle weakness and progressive muscle wasting and eventually in the death of men with DMD at a young age (Guiraud et al., 2015). DMD affects 1 in 3500 live-born men (Ciafaloni & Moxley, 2008; Emery, 1991); the incidence is also reported as 1 in 4000 to 6000 (Mendell et al., 2012; Crisafulli et al., 2020) or 1 in 3600 to 9300 (Mah et al., 2014). DMD is characterized by a high symptomatic burden, weakness, and loss of ambulation and upper limb function (Birnkrant et al., 2018). It is usually diagnosed between 3 and 5 years of age (Ciafaloni & Moxley, 2008) when abnormalities in walking are observed, along with impairment of the function of the lower limbs (Schwartz et al., 2022). The complex symptomatology of DMD is associated with the age range 3–21 with an average age of around 11 years (Papa et al., 2017), but the average age when the first symptoms of DMD appear is around 2.5 years (de Visser & Oliver, 2017). Functional dependence averages around the second decade of life (Verma, 2018). Frequent early symptoms of DMD include delayed walking, problems with walking and walking upstairs, inability to jump or run, pseudomuscular hypertrophy, and Gowers’ sign – all of these are associated with frequent falls (and possible injuries) of boys with DMD. Other symptoms include general delays in development and speech; heart impairment is clinically manifested at around 10 years of age. Progressive muscle weakness with a loss of independent movement reaches its maximum between 9 and 13 years of age (Guiraud et al., 2015; Gao & McNally, 2015; de Visser & Oliver, 2017), which usually leads to the use of a wheelchair. This, among other things, causes the development of scoliosis and the formation of joint contractures and harms respiratory functions (Schwartz et al., 2022). Respiratory complications, including respiratory disorders in sleep and apnoea, occur in boys during adolescence and result in headaches, fatigue, nausea, or decreased appetite (Cox & Kunkel, 1997). DMD is also associated with behavioral and cognitive changes (Snow et al., 2013; Naidoo & Anthony, 2020), and up to 30% of patients are affected by mental retardation (de Visser & Oliver, 2017). In addition to the symptoms and problems described above, the overall quality of life can be significantly affected (deteriorated) by slow colonic transit (slow dysmotility), causing chronic constipation (Gottrand et al., 1991), pain, cachexia, and renal dysfunction (Quinlivan et al., 2021). Seven stages of DMD development commonly illustrate the severity of symptomatology and progression: (1) presymptomatic, (2) early ambulatory, (3) late ambulatory, (4) early non-ambulatory, (5–7) late non-ambulatory 1–3 (Birnkrant et al., 2018). However, child palliative care should be part of comprehensive care for children and adolescents with DMD from the moment of diagnosis (Craig et al., 2008), both in primary and specialized palliative care.

The current multidisciplinary care can increase these boys’ and young men’s quality of life and extend their life expectancy with maximum life satisfaction and personal well-being. However, interventions in the late stages of DMD are mainly palliative (Sinadinos et al., 2015). Due to the early onset of DMD, attention is focused more on boys in childhood and adolescence than adult men (Rodger et al., 2015). Therefore, comprehensive care providers may need more experience addressing the specific needs of adult men with DMD, leading to fragmentation of care and communication (Quinlivan et al., 2021). Although DMD is associated with disease-modifying treatment (de Visser & Oliver, 2017), no curative medicine is available now (Guiraud et al., 2015) – and therefore, treatment is primarily symptomatic. Palliative care in boys and young men with DMD is thus becoming increasingly important, especially in later stages, not only because it is part of multidisciplinary care following the treatment guidelines (Sadasivan et al., 2021). Treatment decisions may be compromised if the patient and the patient’s family are not informed about the condition, possible difficulties, and available assistance (Sadasivan et al., 2021).

Although modern care has numerous possibilities, young men with DMD usually die in young adulthood – an indicative average age of death of men with DMD due to cardiorespiratory failure is 30 years (Mah et al., 2014), this failure being the usual cause of death in DMD (Pessamano et al., 2012; Łoboda & Dulak, 2020). The average age of death of untreated men with DMD is around 19 years (Ciafaloni & Moxley, 2008). Another frequently reported age of death is the late 20s or early 30s (patients without ventilation support) (Landfeldt et al., 2020; Kieny et al., 2013) or between 20 and 40 years of age in the context of terminal heart failure (D’Amario et al., 2017) when death occurs very quickly (approximately within 2 years from the first symptoms) (Papa et al., 2017). However, the current standards of DMD treatment have improved the quality of life and shifted the median life expectancy to the fourth decade of life (Landfeldt et al., 2020; Birnkrant et al., 2018; Saito et al., 2017; Simonds, 2004).

As mentioned, young men with DMD most often die of heart or respiratory complications (de Visser & Oliver, 2017). However, the possibility of ventilation support and the use of glucocorticoids causes an increase in cardiac causes of death (cardiomyopathy) as opposed to respiratory causes (Florczyk-Soluch et al., 2021; Hayes & Nandi, 2021). Nevertheless, this can delay their referral for palliative care (Fraser et al., 2011) and targeted discussions about the terminal nature of DMD.

Especially because DMD remains a relative contraindication to heart transplantation, the terminal stages of heart failure remain a tremendous therapeutic challenge in DMD (Hayes & Nandi, 2021). The long-term left ventricular assist device is a promising treatment strategy to improve quality of life and life expectancy in the context of cardiomyopathy and DMD (Hayes & Nandi, 2021).

Comprehensive multidisciplinary care for adult men with DMD should include approaches involving physiotherapy, speech therapy, occupational therapy, clinical psychology (mainly due to depression and anxiety, OCD, phobias, autism, and others), care advisory (Quinlivan et al., 2021) and others. The aim of this support should be to facilitate participation in everyday social life as much as possible. Finally, attention must be on the impact of all changes on parents or family – they are exposed to an increased burden to provide a higher level of care and psychosocial support to children with DMD (Pangalila et al., 2015; Veerapandiyan & Rao, 2022). Also, due to longer life expectancy, young men (but also boys) with DMD represent a new group of patients benefiting from palliative care. Palliative care is focused, especially in the later stages of DMD, mainly on symptom control and end-of-life care (Landfelt et al., 2018). However, the available information on palliative care and end-of-life care planning is limited (Veerapandiyan & Rao, 2022).

Nevertheless, it is emphasized that men with DMD may have questions about their questions about their end of life (EoL). These questions are closely related to the availability of palliative care and a sound awareness of its importance, addressing fear of imminent death (Willis et al., 2014) and the specifics of care in the EoL in DMD men (Veerapandiyan & Rao, 2022). However, most DMD patients die without a formal end-of-life care plan (Hiscock et al., 2017; Abbott et al., 2017). Patients, family caregivers, and health professionals may be reluctant to initiate these difficult discussions. It should be noted, however, that it is necessary to respect the wishes of dying patients with DMD fully, not to conduct discussions about EoL at all (Hiscock et al., 2017) or to conduct them following the wishes of young men with DMD, i.e., initiated by doctors proactively, sensitively and with good knowledge of the patient with the support of a wider team (Abbott et al., 2017; Veerapandiyan & Rao, 2022). Boys and young men with DMD can use primary and special palliative (hospice) care, including home (mobile) hospice care. The need for palliative care is implemented in the current standards of care in DMD (Bushby et al., 2010).

It seems practical to have a preliminary care plan to understand the wishes of a dying patient with DMD concerning the care, priorities, and nature of EoL (Quinlivan et al., 2021). The need to examine the EoL in persons with DMD is a topical and insufficiently researched issue. It should be noted, however, that due to the nature of DMD, empirical research studies involving dying patients with DMD are rare. The development of palliative care in chronic progressive neuromuscular illnesses is becoming more important not only due to the worsening functional disability and premature death but also because of the increasing life expectancy in these health conditions (de Visser & Oliver, 2017). Compared with amyotrophic lateral sclerosis (ALS), palliative care in DMD is used considerably less even though the current definitions of palliative care no longer focus exclusively on end-of-life care but also include the early stages of the illness (Cohn, 2010), from which patients with DMD can fully benefit (Arias et al., 2011). DMD is an illness that significantly impacts boys/men and their caregivers in various dimensions of their lives. Therefore, it seems desirable to advance care planning and end-of-life planning, which simultaneously requires clear communication on the future life of children with DMD in the context of EoL. Parents of children with neuromuscular illnesses often report fear of explaining to their children (sons) with DMD the lethal nature of their illness and fear of death (Parker et al., 1999). Therefore, it is a challenge and requirement not only for health professionals to find ways to discuss end-of-life issues during the illness appropriately and to help patients and their families cope with uncertainty as much as possible – planning (usually life-long care) provides the opportunity to strengthen patients to participate in decision-making concerning their health and treatment (Erby et al., 2006). As sons with DMD reach adolescence, their parents’ emotional and palliative care requirement increases (Bushby et al., 2010). However, the family will never be prepared for the death of their child or even for a discussion on palliative care provision (Sadasivan et al., 2021), although palliative care – ideally along with active treatment – can improve the quality of life of children with DMD (Temel et al., 2010). One of the requirements seems to be effective and adequate education of all stakeholders to understand the needs, expectations, and principles of end-of-life care.

Aim of the Review and Identification of the Review Question

The aim of this systematic qualitative review with a thematic synthesis was to explore, identify, analyze, summarize, and synthesize the findings (themes) concerning the experiences and perceptions (needs, wishes, expectations) of boys/men with DMD and/or their close persons in the context of EoL. The authors of this review examined the main characteristics of EoL from both perspectives using qualitative findings. Therefore, the review question (framed by the SPIDER search tool) was as follows: What are the reported experiences of men with DMD and/or their close persons during the period of EoL?

Materials and Methods

Design

The qualitative review design with a thematic synthesis was selected to explore, identify, analyze, and synthesize the themes, including the experiences, needs, wishes, and expectations (Butler et al., 2016). This format does not aim to evaluate but rather to present an understanding of experiences (Stern et al., 2014; Bearman & Dawson, 2013) while allowing to study of patients’ experiences, impacts of the illness, and needs in the provision of healthcare or a different type of care (Evans & Pearson, 2001) and allowing to collect existing qualitative knowledge (Lockwood et al., 2015; Bearman & Dawson, 2013; Seers, 2012). This review adopted a systematic search methodology using the PRISMA guidance (Cooke et al., 2012; Moher et al., 2009) and the SPIDER search tool/research strategy (Methley et al., 2014) (for description, see below).

Eligibility Criteria

(1) Original research studies could be included if they (2) Focused either directly on boys/men with DMD or their close persons (families, parents, caregivers) and at the same time (3) Were conducted in the context of EoL (including end-of-life care, palliative/hospice care, advance care planning) using one of the procedures of (4) Qualitative research (including qualitative and mix-method studies, where the qualitative part meeting the eligibility criteria was analyzed). Relevant studies were those that were (5) Conducted from the perspective of dying patients (men with DMD) and/or from the perspective of close persons (parents, family, caregivers); (6) Published in peer-reviewed journals, (7) Available as full texts (only research/empirical “articles” were included, while review studies, abstracts, editorials, letters, conference proceedings, and academic qualification papers were excluded); and published (8) In 2000–2023 in (9) English. Studies published earlier than 2000 were excluded due to improvements in DMD management, including introducing new (steroid and other) modern treatments and using ventilation. The sample did not include studies focusing solely on medical, legal, psychiatric, psychological, and other aspects of EoL. The stage of DMD, age of boys/men with DMD, relationships between the persons, time of onset (diagnosis), and symptomatic treatment were not decisive. By the nature of the qualitative review and its objective, studies using a quantitative research strategy and those for which the context and purpose (intent) of the study could not be identified and, at the same time, did not meet the eligibility criteria were omitted.

Search Strategy and Study Selection

The search strategy was systematic and pre-planned. Relevant studies that met the eligibility criteria were searched in 01/2023. The search was updated in 02/2023 to capture recent publications. The electronic databases EBSCO Discovery Service, ISI Web of Science, Scopus, ProQuest, and PubMed were systematically searched (in the form of an advanced search). The search for relevant records (studies) was framed by the SPIDER search tool (Table 1). The leading search terms used for this systematic literature search were combinations of [duchenne muscular dystrophy or dmd or duchenne syndrome or duchenne’s (TI, AB) AND palliative or hospice or “end of life” or “end-of-life” or “EoL” or dying or death or bereavement or grief or mourning or terminal (TI, AB)] to capture the primary topic of interest. The dominant search across the databases was based on the phrase S AND PI AND (D OR E OR R): [(duchenne muscular dystrophy or dmd or duchenne syndrome or duchenne’s) (TI, AB) AND (Perception* or experience* or expect* or need* or attitude* or belief* or feel* or view* or wish* or hope* or motivat*) (TI, AB) AND (qualitative) (TI, AB, text)]. In the first stage, each of the authors searched for relevant studies independently, while in the second stage, they explored together based on a critical discussion and control.

Table 1.

SPIDER – Database Search Strategy.

Sample (S)	Perspective 1 (P1): boy/s, child/ren, pupil/s, adolescent/s, teen/s, teenager/s, young man/men, young people, man/men (with DMD)
Sample (S)	Perspective 2 (P2): parent/s, family member/s, family/ies, caregiver/s, close person/s (providing care and support)
Phenomenon of interest (PI)	End of life in Duchenne muscular dystrophy (DMD), including palliative and hospice care approach and its specifics (through the lens of people’s experiences from P1 or P2 or P1 + P2 perspective/s)
Design (D)	Primary data from published qualitative literature (empirical research studies) of any qualitative research design, method, or procedure (including a qualitative part in mix-method)
Evaluation (E)	Perceptions, experiences, expectations, needs, attitudes, beliefs, feelings, views, wishes, hopes, motivations, meanings, reflections, and senses
Research type (R)	Empiric qualitative peer-reviewed studies (specifically focused on phenomenon of interest in the context of P1 or P2 or P1 + P2)

A total of 842 records were identified. After duplicates were removed and irrelevant records eliminated, both authors worked independently using the criteria to study 31 full-text relevant studies (screening the title and abstract against predefined inclusion criteria by both authors, followed by a detailed analysis of the full texts). Any discrepancies in the selection between the two authors were discussed. After the full texts were analyzed, eight studies were included in the final sample of relevant studies meeting the criteria. To visualize the number of identified studies meeting the criteria, the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-analyses) statement was used (Liberati et al., 2009). The systematic search followed the SPIDER (Sample, Phenomenon of Interest, Design, Evaluation, Research type) search tool strategy (Cooke et al., 2012) (Table 1). The SPIDER search tool is suitable for qualitative and mix-method studies, for which it seems more convenient than the PICO(T) formats (Cooke et al., 2012; Methley et al., 2014) as it can adequately reflect on qualitative research questions (focuses of the study design rather than on interventions and measurable data). The methodological quality of the studies included was assessed by both authors independently using the CASP Qualitative Studies Checklist (2018) - after assessment, the studies scored 8 to 9 points out of 10. The study selection process is described in the PRISMA literature review flowchart (Figure 1).

Figure 1.

PRISMA Literature Review Flowchart.

Data Extraction and Thematic Synthesis

The systematic screening process involved several phases, and both authors equally shared the extraction process of qualitative themes and thematic synthesis. The process of gradual data acquisition began with careful reading and collaborative thinking of both authors about the content and findings in the studies included. Both authors examined and critically studied the title, abstract and full text of all studies included in the final selection. These were also studied if participants’ direct statements (quotes) or supplementary resources were available. All emerging sub/themes were directly linked to this review’s objective, question, and applied perspectives. The determination of the overall concept of adequate analysis was framed by the SPIDER search tool. From each study, information was extracted and pasted into a document shared by both authors, including information about authors, year of publication, description of methodological framework, a sample of persons, and dominant findings. The gradual development of categories and sub/themes was performed using the coding technique, constant comparison, and pattern matching (Chrastina, 2019), thematic analysis according to Braun & Clarke (2006), and thematic synthesis according to Thomas & Harden (2008). The thematic analysis/synthesis allows for considering each study’s context to create a more generalizable outcome (Barnett-Page & Thomas, 2009; Bearman & Dawson, 2013; Seers, 2012). In a simplified way, the procedure of the authors of the review consisted of several steps (Thomas & Harden, 2008; Bearman & Dawson, 2013; Braun & Clarke, 2006): familiarization with the information by line-by-line coding of relevant qualitative data/knowledge – generation of initial codes – categorization and segmentation – constant comparison and pattern matching – searching for themes: emerging subthemes and descriptive themes – main themes (representing new interpretations from the original studies and their findings). The data obtained were coded using an inductive approach – this helped develop synthesizing arguments (Dixon-Woods et al., 2005) and a more comprehensive conceptual understanding of a particular phenomenon that this review focused on (Heath et al., 2017; Bearman & Dawson, 2013).

Results

Description of the Studies

The search yielded 842 papers, of which 8 met the inclusion criteria and were included in this review (Figure 1). These qualitative studies (referred to as QS1 to QS8) were conducted in 6 countries: Colombia (QS1), USA (QS2, QS5), Norway (QS3), United Kingdom (QS4, QS8), Germany (QS6) and India (QS7). The studies were published (in descending order from the latest) in 2022 (QS5), 2021(QS1, QS7), 2020 (QS6), 2019 (QS3), 2017 (QS7), 2015 (QS4), and 2006 (QS2).

The qualitative studies included in the review were designed as a phenomenological approach (QS1), grounded theory (QS4, QS5), qualitative exploratory study with a cross-sectional design (QS7), one of the studies (QS6) was designed as mixed-method (qualitative part in the form of a discursive-dialogical approach) and three studies did not have a leading qualitative research method/design (QS2, QS3, QS8). Qualitative data were collected primarily using in-depth/semi-structured interviews (QS1, QS2, QS3, QS4, QS5, QS6, QS7, QS8) and free associations (QS1). The analytical approaches were (qualitative) thematic analysis/thematic coding (QS1, QS2, QS3, QS7, QS8), categorization of free associations (QS1), coding and categorization in accordance with grounded theory methodology (QS4, QS5) and content analysis (QS6).

The studies were conducted from the perspective of caregivers: women in the caregiver role; parents – fathers, mothers, or both (QS1, QS2, QS3, QS5, QS6, QS7) or just fathers (QS4). Sporadically, the caregiver role was assumed by grandmothers (QS5), sibling (QS5), or sister (QS6). The perspective of persons with DMD was represented by male adolescents (QS5) and young adults (QS5, QS6, QS8). In one of the studies (QS4), partners whose child with DMD had died were among the participants.

Table 2 presents the summary information about the final sample of the qualitative studies. In the studies, the following four main key themes were identified: (i) “Being a parent/caregiver” – psychosocial aspects, needs, and experiences; (ii) “Communication about the end of life with healthcare and other professionals” – positive experiences and personal shortcomings; (iii) “Discussions about…” – the issue of end of life, dying and death; and (iv) “End of life” – end-of-life care, its planning and the need for palliative care. The results are presented according to the themes.

Table 2.

Summary of Included Qualitative Studies.

Qualitative study ID	Author/s \| (publication year)	Country of origin of research	Sample	Phenomenon of interest	Method/approach \| Data collection \| Data analysis	The main key findings from the qualitative study	CASP
Qualitative study ID	Reference	Country of origin of research	Sample	Phenomenon of interest	Method/approach \| Data collection \| Data analysis	The main key findings from the qualitative study	CASP
QS1	Palacios-Espinosa, X., Vera-Márquez, A. V., Mateus, H., Dávalos Serrano, M. L., Gracia-Ruiz, J., & Huertas, J. F. \| (2021)	Colombia	7 women (aged 25–64) who provided care to one or two living children with DMD (boys and young men with DMD were 9–21 years old)	Meaning of experiences of being a caregiver of boys and young men with DMD.	Qualitative research of phenomenological approach \| unstructured interview and free associations \| hematic analysis of narratives and categorizing of free associations	Meaning of DMD is strongly associated with intense suffering and psychological stress, with a high negative burden, and to identify the certainty of a child’s premature death	8
QS1	Experiences of caregivers of boys with Duchenne Muscular Dystrophy: “When I look at him, my world falls apart”	Colombia					8
QS2	Erby, L. H., Rushton, C., Geller, G. \| (2006)	USA	17 parents (aged 34–64) of 19 DMD boys (older than 7 years)	Attitudes, experiences, and the nature of their discussions about advanced care planning (ACP)	- - - \| interviews \| (thematic) coding of transcripts	Parents demonstrated a lack of knowledge and experience in communicating about ACP. Parents appeared to vacillate between hope for future treatments, avoidance of emotionally difficult aspects of the disease, and presence with the fullness of life’s experiences	8
QS2	“My son is still walking”: stages of receptivity to discussions of advance care planning among parents of sons with Duchenne muscular dystrophy	USA	17 parents (aged 34–64) of 19 DMD boys (older than 7 years)		- - - \| interviews \| (thematic) coding of transcripts		8
QS3	Saetrang, T., Bjørk, I. T., Capjon, H., Rasmussen, M. \| (2019)	Norway	12 families/parents (4 fathers alone, 6 mothers alone, and 2 mothers and fathers together) of 14 boys with DMD (aged 7–17 years)	How parents experience caring for boys with DMD.	- - - \| in-depth interviews \| thematic analysis (according to Malterud’s systematic text condensation)	The parents must be involved in timing of interventions. Meeting with others in the same situation was highly appreciated. Many of the parents expressed their own need for support to cope with the difficult situation	8
QS3	Parent-child communication and timing of interventions are challenges in theDuchenne muscular dystrophy care	Norway		How parents experience caring for boys with DMD.			8
QS4	Cunniff, A. L., Chisholm, V., Chouliara, Z. \| (2015)	United Kingdom	15 fathers (aged 34–60 years) of a son with DMD (aged 8–32 years), and 55 fathers from a related mixed methods study^a	To investigate experiences of fathers of sons with DMD.	Grounded theory (GT) methodology \| semi-structured interviews and written “comments sheets”, comprising a summarized version of the interview guide \| coding, categorizing a thematizing in accordance with a constructivist’s interpretation of GT	Fathers described the impact of emotional/behavioural factors, which were not routinely addressed by professionals. The need to recognize the role and involvement in the care process of not only mothers but also fathers. Conversations with one’s own child about his/her death appeared to be difficult	9
QS4	Listening to fathers of sons with Duchenne muscular dystrophy	United Kingdom		To investigate experiences of fathers of sons with DMD.			9
QS5	Grossoehme, D. H., Thienprayoon, R., Sawnani, H., Jenkins, R, Rossman, I., Mosher, K., Friebert, S. \| (2022)	USA	13 adolescents and young adult men (AYA) with DMD (aged 11–33 years) and 17 caregivers (aged 31–77 years): 11 mothers, 3 fathers, 2 grandmothers, and 1 sibling	The primary goal of this study was to explore the perspectives of the maturing population of AYAs with DMD regarding their goals and care needs as they age and experience progressive physical changes.	Cross-sectional qualitative grounded theory (GT) \| semi-structured interviews \| initial, focused, and theoretical coding in accordance with GT; constant comparative analyses within and across interviews	AYAs with DMD frequently defer considering and/or reconsidering goals of care based on delays in diagnosis; gradual, rather than episodic, disease progression; and orientation to living in the present. Desire for autonomy motivates advance care planning and end-of-life treatment preferences for some	9
QS5	Assessment of the relationship between disease progression and goals of care by individuals with Duchenne muscular dystrophy and their caregivers	USA					9
QS6	Janisch, M., Boehme, K., Thiele, S., Bock, A., Kirschner, J., Schara, U., Walter, M. C., Nolte-Buchholtz, S., von der Hagen, M. \| (2020)	Germany	9 children, adolescents, and adults with DMD (aged 14–33 years): 5x patient and mother; 1 patient and parents; 1 mother only; 1 sister only; 1 patient only as participants in a qualitative part of research	A nationwide cross-sectional survey based on a mixed-method-design of qualitative and quantitative research approaches evaluated the structural implementation and perception of palliative care for DMD in Germany	Mix-method design: discursive-dialogical approach as for the qualitative part \| discursive-dialogical semi-structured interviews \| Mayring’s summative content analysis	Most patients did not utilize the scopes of specialized palliative structures. A collaborative integrated model with a close cooperation of patients, families and care providers is proposed (including advance care planning and end-of-life care)	9
QS6	Tasks and interfaces in primary and specialized palliative care for Duchenne muscular dystrophy – A patients' perspective	Germany					9
QS7	Sadasivan, A., Warrier, M. G., Polavarapu, K., Preethish-Kumar, V., Nair, M. G., Keerthipriya, M. S., Vengalil, S., Sagar, J. V., Kishore, T., Nalini, A., Thomas, P. T. \| (2021)	India	6 parents (4 mothers and 2 fathers) of a child with DMD (aged 12–17 years)	To explore the parent’s understanding of palliative care services available for children with DMD and the challenges faced by them in utilizing the same.	A qualitative exploratory study with a cross-sectional design \| In-depth with semi-structured interview guide \| thematic analysis	Awareness about palliative care services is the dominant theme identified as influencing rest of the experiences narrated by the parents of children with DMD. The parents have difficulty to accept word “palliative care”, and most of the family connects this word with death	9
QS7	Palliative Care in Duchenne Muscular Dystrophy: A Study on Parents' Understanding	India					9
QS8	Abbott, D., Prescott, H., Forbes, K., Fraser, J., Majumdar, A. \| (2017)	United Kingdom	15 men with DMD (aged 20–45 years)	To focus on the views and preferences of men with DMD and how they could best be supported to approach end-of-life planning	- - - \| interviews with semi-structured topic guide \| (qualitative) thematic analysis; constant comparative method	Participants could not recall any significant conversations with clinicians about end of life. To pay attention to end-of-life planning issues and the associated need for emotional support and high-quality interactions between patients and clinicians	8
QS8	Men with Duchenne muscular dystrophy and end of life planning	United Kingdom	15 men with DMD (aged 20–45 years)				8

CASP = Assessment using Critical Appraisal Skills Programme: Qualitative Studies Checklist.

- - - = not stated / unable to trace, clearly identified.

^a = it was not clearly identified from which source and methodological approach the answers (and findings) came.

Key Theme 1: “Being a Parent/Caregiver” – Psychosocial Aspects, Needs, and Experiences

The demanding nature of the care process was further aggravated by the frustration of coping with some behavior manifestations in boys with DMD (QS1) and caregivers’ feelings, including helplessness, fatigue, and sadness (QS1). The care process was considered difficult to even devastating. Caregivers had to be more aware of their role and its consequences (QS1) and the need to recognize this role and involve mothers and fathers in the care process (QS4).

Parents expressed the need to relax from care responsibilities (QS2, QS6) and improve access to respite care (QS4). However, parents were insufficiently aware of the need for supportive care throughout the life of their children with DMD (QS2), although parents needed to provide and maintain appropriate multi-professional support (QS6), including religious, emotional, and instrumental support (QS1). Because caregivers had to stay away from their friends due to the demanding care, they described feelings of loneliness (QS1) and relationship changes (QS1). The positive emotional link between families and providers of long-term paediatric care was necessary, mainly because they knew child patients well and had addressed their critical health situations before (QS6). However, some parents encountered insufficient involvement of health professionals already in the initial stage of DMD and felt that they were the ones who had to ask for help, which was a devastating feeling (QS3). The need for professional assistance provided to parents as well as boys also seemed to be highly desired (QS3, QS6) – the paradox as perceived by some parents (QS3) was that as their boys were getting older and the need for assistance was increasing, the range of services, medical and other follow-up provisions including professionals decreased. At this stage, parents felt that the lack of continuity from key professionals was an additional burden (QS3). In addition to the disadvantage of worsening symptoms, it became difficult for parents to cope with their children’s emotional problems (QS7). Other challenges included addressing the child’s needs (QS7), lack of open communication between parents and their children (QS7), and difficult transition to the next stage of DMD (QS7). Other aspects included transmission via the internet (QS4) and the fact that fathers’ perceptions – as opposed to the role of caring mothers – were not of interest to people from the immediate environment. However, the study focusing solely on fathers as participants (QS4) observed that fathers did not show a tendency or need to communicate with other fathers of children with DMD.

Talking about the reality of DMD with other children with DMD represented a confident hope for their sons (QS2). However, there were also experiences of parents avoiding the reality that their son would eventually die and that they were likely to outlive their son (QS2) – the need to alleviate the emotionally demanding aspects of DMD was achieved, for example by parents avoiding the topic of the death of their child (QS2). For instance, an increased level of support appeared in the period of coping with feelings of helplessness or loss of expectations – the critical need was to know what parents could do with their children instead of various limitations (QS4). Finally, the parents were afraid that their son would start to waste away in the later stages of DMD and that he would be rejected when his condition began to deteriorate (QS4) – continued deterioration led to a continuous process of parental emotional stress. The need to plan the future was described as an overwhelming experience (QS3), and the need to cope with the DMD diagnosis and be positively present for their children. In one of the cases, suicidal thoughts appeared when the child’s life ended (QS1).

Key Theme 2: “Communication About the End of life With Healthcare and Other Professionals” – Positive Experiences and Subjective Shortcomings

According to participants, health professionals did not initiate targeted discussions about EoL with them. Doctors usually spoke about medical matters but did not ask about EoL (QS8), while respiration counselors considered arguments about resuscitation to be a conversation about EoL (QS8). In addition to health professionals, the topic of communication was also associated with social support professionals, and in schools (QS3) and with peers in school (QS8).

Both negative and positive experiences with this communication were reported. The aspects of inefficient communication on the part of professionals included insufficient knowledge and information about DMD (QS1, QS7), feelings of distrust (QS1), absence of sensitivity (QS3, QS7) and emotional acceptance of the problem (QS7), aggressive course of the discussion (QS8), the feeling of disinterest in the boy (QS1), insufficient involvement (QS3), disinterest in the quality of life of boys with DMD (QS1), absence of competencies (QS3) and experience (QS3, QS1), lack of social sympathy (QS8) and increased anxiety (QS8). However, in discussions with professionals, parents felt they could not discuss their concerns (QS3). They would appreciate if discussions would be conducted from a medical and emotional perspective (QS8). Sometimes there were conflicts between the doctor and the boys with DMD regarding the doctor’s communication style (QS1) or doubts about the boys’ report (QS1).

Positive qualities appreciated by parents included commitment, knowledge (QS3, QS7), involvement of professionals in care and recognition of competencies (QS3), communication of information in a modified form (QS3) with an emphasis on empathy (QS7), and sensitivity and caring (QS3). Palliative care professionals can facilitate discussion between parents and their child with DMD to cope with anxiety resulting from the child’s death (QS7). Communication in adult medicine, instead of child medicine, could be seen as unusually directive (QS6).

Key Theme 3: “Discussions About…” – The Issue of End of Life, Dying, and Death

Both families and doctors (QS8) were aware of the progression of DMD, and parents accepted imminent premature death. Still, coping actively with the unavoidable process of death and dying was impossible (QS6). Parents might need professional help to communicate openly and honestly with their sons about their diagnosis (QS3) and progression. The medium-term course of the illness in the following 2–5 years seemed particularly important for the ability to act and address any upcoming problems (QS6). If discussions about EoL were conducted with professionals, men with DMD wanted the person offering the debate to be personable (QS8), have good knowledge (QS8), communicate tactfully and humanely (QS8), express the necessary support (QS8) and show listening abilities (QS8). They appreciated their interest/involvement (QS8) and recognized that at a specific moment, they could but were not forced to discuss issues associated with EoL (QS8).

Discussions with one’s child about dying and death represented a challenging topic (QS3, QS4, QS6) for everyone involved. One of the reasons was, for example, the argument about whether or not to hold discussions (QS6), in what way (QS6), and what should be told to the child (QS4). If parents spoke to their children about death and dying, sincerity and immediate resolution of questions were emphasized (QS4). However, parents did not feel prepared to discuss this issue with their children (QS7) and medical decisions or care plans in EoL (QS2).

There was sometimes a tendency to avoid death and thoughts about the child’s death (QS1, QS2, QS4, QS7, QS8). The reason for this approach was for boys with DMD to live in the present (“here and now”) and gain as much from it as possible (QS1). This avoidance alleviated the emotionally demanding aspects of DMD (QS2) or brought relief (QS4). However, parents’ efforts to avoid thinking about the death or loss of their child might threaten the ideal care for their child (QS7). If parents were not willing to speak about death or loss, they were not willing to talk about palliative care (QS7). Some parents even instructed members of the medical team caring for the child with DMD not to speak about his death (QS1).

If parents discussed or wanted to discuss dying, death, and care planning (QS3) and overcome the initial barrier in discussing death (QS8), it proved to be especially important to speak openly (QS8) and adequately time the discussions. The trigger for the discussions could be the death of other children or a family member or friend (QS2). A requirement was noted to provide families with advice and involve them in decision-making on end-of-life issues (QS6), which could be realized by applying palliative care professionals in discussions between parents and their children. Although counseling and psychological services were used, they were not considered helpful regarding end-of-life issues in DMD (QS8). Moreover, it was expected that this topic should be proactively opened by the professional (QS8). Some parents mitigated discussions about death by portraying them as a universal and standard part of life (QS2, QS4), often influencing parents’ communication with their sons (QS2). If children with DMD were asked whether and when they would die of DMD, some parents replied that they did not know the answer to this question (QS2). However, it was healthy to discuss the death of one’s own child’s death and not deny that death would occur (QS2, QS8). The cause of parents’ suffering in discussing death-related issues with their sons was also insufficient awareness of how much their child already knew (QS4). Sporadically, discussions related to the method of burial (QS5) but with a requirement to confirm this preference in writing.

Young men with DMD sometimes rejected the theme of dying and death (QS6). Some did not recall discussing EoL with a clinician within children’s services (QS8) or with a medical professional in the adult period (QS8). Discussions were commonly held with respiratory advisers, but the discussions' content was resuscitation ideas (QS8) rather than direct end-of-life issues. Even these discussions were considered limited and too medicalized (QS8). In adulthood, young men wanted to know what death would be like (nature of dying, symptoms, suffering), but this question might have remained unanswered (QS8). With one exception, men with DMD did not openly discuss with their families end-of-life and death issues (QS8), significantly not to upset their relatives (QS8). Discussing EoL with family members seemed challenging (QS8), and the effort to open these discussions might not have been successful (QS8). End-of-life issues were not discussed by men with DMD with friends without DMD (QS8) because they thought they would only be understood by other people with DMD, which seemed more effortless for them. Discussing death with friends could have been trivialized (QS8); a suitable method of sharing thoughts about the EoL with DMD was social media and the internet (QS8). Some men with DMD learned from their friends and the internet that they would probably die younger than usual (QS8). One of the rare topics discussed by men with DMD was assisted suicide (QS8) – described in the context of an open discussion, possible end-of-life scenarios, or generally insufficient support for people with disability. Men with DMD appreciated that they could discuss any topic related to EoL, life expectancy, death, and dying (QS8) and simultaneously that someone else would proactively open the issue (QS8). Men with DMD would sometimes like to be more active in discussing these topics (QS8), both with their parents and without (QS8).

In the life of persons with DMD, there are times when they would appreciate a discussion and times when they would not (QS8). Moreover, this preference naturally changes throughout life. The opinions as to when “Discussion about...” should be started differed, but for most men with DMD, the need to address this issue was highly individual (QS8), including the opinion to conduct these discussions in a stabilized condition during DMD (QS8) with a vision of good readiness for future stages of DMD development. According to one opinion, these discussions should be initiated earlier as part of child services (QS8).

Key Theme 4: “End of Life” – End-of-Life care, its Planning, and the Need for Palliative Care

Participants expressed the need for palliative care for children with DMD (QS1, QS7) and that palliative and hospice care could be helpful during DMD (QS6). A smaller proportion of men with DMD used hospice services and assessed them positively (QS8).

Some parents emphasized the need for palliative care as DMD progressed (QS3, QS7) but were not sure when their child needed palliative care (QS7) – some families associated this type of care with the end-of-life stage (QS6). The fact that parents associated the term palliative care with death and the ultimate loss of their child was the likely reason why most were never willing to accept palliative care for their children (QS7).

Palliative care was used insufficiently (QS1); some parents needed to learn about this type of care or have accurate information about its importance and benefits. Although the term “palliative care” and its objective might be known to families (QS6, QS7), it was often associated with ambiguity (QS7): it was synonymized with death (QS7), ultimate loss (QS7), end-of-life care (QS6), predominantly oncological patients (QS6, QS8), elderly people (QS7), persons with Alzheimer’s dementia (QS8) – but not with children with DMD (QS7). The possibility of palliative care was not associated with its desirability in DMD and coping with burdensome symptoms (QS6). However, some families refused to think about the idea of palliative care until – given the progression of DMD – this issue became topical (QS6). Some parents believed palliative care should be provided to their sons with DMD and their parents (QS3).

Pre-planning and documentation of treatment preferences in EoL were in some adolescents and young adults with DMD motivated by their desire for autonomy (QS5), including themes/reasons for controlling their own lives, having the possibility of making decisions (“own decisions concerning own body”) and managing their adulthood (as opposed to reliance on parents) (QS5). Participants emphasized the importance of written preferences and wishes (related to the method of burial (QS5) described from the sibling’s perspective). However, if a re-evaluation of care goals became necessary, men with DMD were often not prepared to make their own decisions previously made by caregivers (QS5). The goals of care were considered to maximize the quality and the length of life (QS5), and these themes agreed with both adolescents and young men with DMD and their caregivers (QS5). Adolescents and young adults with DMD and their caregivers generally postpone evaluating their care goals regarding illness progression, which might be due to their focus on the present rather than the future (QS5). The preferences for these discussions were observed in the context of the family rather than service providers (QS5).

However, for many parents, it was not clear which problems could be addressed by palliative care (QS7), at what stage of DMD the palliative care team should be contacted (QS7), and the management of which symptoms could benefit from palliative care (QS7). A family recognized the need for palliative care with two children affected by DMD (QS7) in the context of the previous prognosis – they did not have any problems with the term “palliative care” (QS7).

In one of the cases (QS8), end-of-life and care planning were discussed with children’s hospice workers in the family’s home, while in another case, a unique document of wishes was made (QS8). Discussions and care planning in EoL were, in this case, described as beneficial because the dying patient with DMD did not want his family to worry about his death (QS8). In one of the studies (QS8), a will or a formal document specifying the wishes concerning the place of death and burial was not made for a man with DMD, but everybody had thought about these issues. The reasons were that there was a need for support (a person who could help) and that other people might not understand what dying persons with DMD want (QS8). A feeling was expressed that the nature of the burial and farewell ceremony could not be discussed with the family (QS8). However, support was needed in this area, including the possibility of making a formal document (QS8). If the preferences for the place of death were discussed, men with DMD would prefer to, if possible, die at home or in hospice rather than in a hospital (QS8). The main reasons were dignity, comfort, and space for family and friends to visit. Other reasons were barriers to palliative care services usage – logistics issues with commuting (QS7) and high financial costs (QS7).

As far as mourning and grief are concerned, parents described them as an ongoing process, and it was difficult for them to see the boys fight (QS3) and that parents were left on their own to cope with grief (QS3). Men with DMD expressed concern about how other people would cope with their death (QS8) and how their matters relating to life and death will be handled (QS8). Experience discussing death and dying with a counselor was mentioned (QS8), and these discussions were described as useful (QS8). However, they could not answer the questions about EoL (QS8) because of the lack of knowledge about the specifics of DMD and EoL in patients with DMD. It was appreciated that this was someone other than the parent of a person with DMD (QS8) and that it was possible to discuss this issue.

Discussion

First, it is necessary to understand that there is a limited number of empirical qualitative studies on EoL. The data and results obtained from this qualitative knowledge are influenced by many factors, such as voluntary participation in the study, small samples, deliberate sampling, DMD stage, interest in research and patient registries, uneven representation of men and women in the role of caregivers (and the impossibility of generalization to “both parents”), the threat of neglecting the view of a family member, the difficulty of the topic and the willingness to share one’s story. With a few exceptions, these were families whose children or young adults with DMD were still alive (parents of children who had already died might be more willing to think about and discuss their experiences retrospectively and from a detached view).

The care process is considered demanding and is related to becoming aware and recognizing the role of the caregiver – intense suffering and psychological stress were also described by Palacios-Espinosa, Vera-Márquez, et al. (2021) and Prasai & Uprety (2015). The fact that parents of children with DMD face psychosocial and emotional problems that affect their family dynamics and quality of life was suggested by Donnelly et al., (2023) and Obeidat et al., (2021). The unmet needs of parents can cause these problems with information and support (Porteous et al., 2021). Women identify with the role of caregiver generally better and accept the role as a specific moral obligation but also as an acceptance of responsibility (Kleinman, 2012). This appears problematic for fathers caring for a child with DMD, as coping with the DMD diagnosis may be more challenging. The problematic nature of care provided by mothers (Prasai & Uprety, 2015) and fathers (Lucca & Petean, 2016; Cunniff et al., 2015) for children with DMD has been confirmed by research.

A requirement raised by caregivers was the need for rest from care responsibilities. Although numerous multidisciplinary services are available to families (Sadasivan et al., 2021), their use is not always self-evident, complicated by the lack of open communication about the child’s and the family’s needs. Moreover, the awareness of palliative care in DMD is generally low (Taylor et al., 2022; Meaney et al., 2007). Caring for sons with DMD is emotionally demanding (helplessness, loss of expectations, fear) and even leads to avoiding the fact that their child will die. Therefore, attention should be paid to regular communication about the emotional and spiritual needs of the child and family members and the clinical needs of both parties (Himelstein, 2005). As a result of understanding and coping with the difficult situation associated with DMD, traditional childhood and adolescence are abruptly severed (Palacios-Espinosa, Mateus, et al., 2021). However, research on palliative care’s role in improving adolescent results is generally lacking (Andrews & Wahl, 2018). Parents desire to lead an everyday life but may sometimes be afraid of losing hope in addressing the issue of palliative care (Janisch et al., 2020).

However, cooperation between the family and health professionals is essential to empower families and promote children’s self-care (Yang et al., 2018; Penner et al., 2010). Health professionals must sensitively perceive the needs of parents and take appropriate steps to satisfy them (Obeidat et al., 2021). The need for better, respectful, and sympathetic interaction with healthcare providers was highlighted, for example, by the studies by Palacios-Espinosa, Mateus, et al. (2021) and Penner et al. (2010).

Parents may have felt that they could not speak about their concerns and that these discussions should be more humanized – but it turns out that a good relationship between professionals and families is essential (Carter et al., 2007). Communication between the family and the child with DMD may be deliberately supported by palliative care, and a desirable aspect seems to be multi-professional counseling (Janisch et al., 2020).

A big issue appeared to be discussions about EoL, dying, and death. Families are aware of the progression of DMD and that their children will die prematurely. Although it is very challenging for the family to discuss dying and death with their child, the fact that death will occur should not be denied and adequately discussed. Parents thought about whether or not these things should be communicated to the child and, overall, did not feel prepared for these discussions. Avoiding the theme of death showed to be a recurring experience. Families should proactively use support in this process. Sometimes, families expect that this topic will be opened for them by health professionals – these should ideally be palliative and hospice care workers. However, families with DMD patients seldom use hospice and respite care (Meaney et al., 2007). Moreover, doctors predominantly focused on preserving and prolonging life may have difficulty discussing non-curative topics (Parker et al., 1999). Healthcare professionals may hesitate to discuss end-of-life care and advance care planning (Hiscock et al., 2017).

In young adulthood, death issues appear more frequently, but they can be rejected by dying men with DMD. Overall, it turns out that only a tiny proportion of young men with DMD have discussions on this topic (Donaldson et al., 2021). This is complicated because these targeted discussions were either not held or end-of-life issues were synonymized with discussions about resuscitation. Participants appreciated the opportunity to communicate, discuss and search for information on the internet and social media. These seem to be an essential source for communicating with other families in the same situation or sharing experiences (Donnelly et al., 2023; Obeidat et al., 2021; Prasai & Uprety, 2015; Saetrang et al., 2019). The fact that parents relieved anxiety by sharing feelings with others, assuring themselves, and accepting the reality of the child’s illness was suggested by the study’s results by Obeidat et al. (2021). However, there is a risk of undesirable social comparisons in support meetings with other parents (Hodges & Dibb, 2010).

There is a general belief that targeted discussions about this topic should be opened by someone other than young men with DMD. Finally, in the life of young men, there are times when these discussions would be appreciated and times when they would not. However, discussions about advance care planning should be introduced gradually in the early stages of DMD (Janisch et al., 2020). Although the trajectory of DMD is in the context of EoL and care planning and expectations are uncertain and unpredictable (Janisch et al., 2020), palliative care is not limited to people close to death – this is even more difficult because the planning of an adult life with DMD turns out to be very demanding (Abbott & Carpenter, 2014).

As a result of the development of new technology, home-based healthcare, and increasing autonomy in decision-making, care for men with DMD in EoL became important for patients and their families (Hilton et al., 1993). As far as end-of-life care and palliative care are concerned, their usefulness and benefits are recognized, but they are still used insufficiently (Arias et al., 2011; Andrews et al., 2019; Tapawan et al., 2020; Meaney et al., 2007) or patients with DMD are not referred to palliative care for adults (Taylor et al., 2022). Also, the awareness about palliative care in the context of DMD is low – the results of the study by Arias et al. (2011) show that 85% of families have never heard the term “palliative care”.

Introducing palliative care could seem more topical during the stabilized phase of DMD (Sadasivan et al., 2021; Janisch et al., 2020) and during the progression of DMD, but palliative care tends to be associated with the terminal phase of DMD, resulting in death. However, the principles of palliative care are not limited to persons close to death (Erby et al., 2006). The reasons for not including patients in EoL in the system of overall care offered by care providers were primarily their uncertain prognosis and the inability to recognize that the condition is incurable (Davies et al., 2008). However, if the philosophy of palliative care not only in the context of neuromuscular illnesses is explained and perceived instead as an opportunity to focus on the quality of life, families can also benefit from this care, and their emotional burden can be decreased by palliative care interventions (Erby et al., 2006; Bushby et al., 2010; Parker et al., 1999). Also, palliative care patients’ quality of life was statistically significantly higher. These patients also had fewer depressive symptoms and received less aggressive care in the end-of-life stage, extending their life expectancy (Temel et al., 2010).

Active involvement in the priorities and values of men with DMD improves cooperation between these men and professionals (Grossoehme et al., 2022). However, in the case of child patients, professionals are often unsure how to address preliminary care planning (Lotz et al., 2015). Evidence suggests that the admission of persons with DMD to a hospice is due mainly to a more severe progression of DMD or serious complications (Nohavicka et al., 2017). The theme of mourning was mentioned only marginally, but the process of mourning is part of everyday life from the diagnosis of DMD (Dawson & Kristjanson, 2003; Donnelly et al., 2023), includes fluctuation between confrontation with the grief associated with DMD and avoiding it (Stroebe & Schut, 1999) and is traditionally described as anticipated mourning (Lucca & Petean, 2016). Adequate palliative support should be provided after the diagnosis is determined (Hiscock et al., 2017; Rushton et al., 2012).

Mourning can be supported both in the last stage of life and after it. Therefore, parents and health professionals should be adequately educated about the mourning process (Rowland & Metcalfe, 2013; Obeidat et al., 2021). Education in EoL (planning) has been topical for quite a long time (Donnelly et al., 2023; Hilton et al., 1993).

According to participants, it is possible to focus on leading a good life with appropriate support while at the right time thinking about EoL in a beneficial way (Abbott et al., 2017). On the other hand, it was observed that although men with DMD lived a good life, they felt “forgotten” because of perceived shortcomings in the insufficiently coordinated multidisciplinary care (Laidlaw & Carduff, 2018). This care needs to include adequate discussions not only about targeted planning of end-of-life care but also about the philosophy of palliative/hospice care (Birnkrant et al., 2018), which is consistent with the increased need for overall awareness about palliative care among families of young men with DMD (Arias et al., 2011; Tapawan et al., 2020).

Conclusions

Based on a systematic analysis and synthesis of relevant qualitative findings, this review provided a perspective of the EoL and its specifics in persons with DMD and their families. The authors have not found a review to be conceived and processed similarly. Regarding palliative medicine involving symptomatic treatment of patients in advanced and terminal stages of the illness and holistic care, it should involve patients with DMD. Thanks to medical advances, young men with DMD live longer than ever. It seems even more desirable to discuss not only the progression of DMD but also the form of EoL and the needs of the dying person with DMD and his family. Awareness of the benefits of palliative and hospice care is deficient in the context of DMD – effective education should be provided to families, health professionals, and other specialists. Discussing EoL, dying, and death appears to be very challenging, but these discussions can be suitably facilitated – for example, by palliative care workers. Care for children and young adults with DMD is demanding and exhausting; therefore, adequate and individualized psychosocial support accompanying the process seems desirable. It must be respected that young men with DMD have periods when they desire to discuss EoL and periods when they do not. However, a good level of knowledge is expected among health professionals and other experts, as well as a fundamental human interest in their everyday problems associated with EoL, including the possibility of planning this type of care. Further research could focus on the psychosocial needs of accompanying persons, survivor care, or the effectiveness of psychosocial counselling. This knowledge will support the assumption that EoL is and should be integral to multidisciplinary care for individuals living with DMD and their families.

Review Limitations

The authors used databases under institutional license; therefore, some available and relevant studies might have needed to be included. The English language was determined as the language of publication. However, other studies might have been published in a language other than English. Finally, this qualitative review is an interpretation of the authors’ reading and understanding – it is possible that other researchers with different experiences, preferences, and procedures could formulate different conclusions.

Footnotes

Authors’ Contribution

Conception and design (JCH, MH); data collection (JCH, MH); data analysis and interpretation (JCH, MH); manuscript draft (JCH); critical revision of the manuscript (JCH, MH); final approval of the manuscript (JCH, MH). Both authors agreed on the final version of the manuscript.

Declaration of Conflicting Interests

The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Funding

The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: The following grant project supported the study: End-of-life, palliative approach, educational and specific needs in persons with Duchenne muscular dystrophy and with spinal muscular atrophy: a scoping review (IGA_PdF_2022_010) implemented at the Faculty of Education, Palacký University Olomouc, Czech Republic.

ORCID iD

Jan Chrastina

Author Biographies

Jan Chrastina is an assistant professor. He is interested in the area of special education (mainly life-limiting and life-threaning conditions, physical and intellectuall disabilities), and research methodology using qualitative approaches. He is an expert in case study methodology and qualitatively oriented reviews. He links special education topics with palliative, hospice and health care and bereavement counseling.

Martina Haroková is a Ph.D. student (in Special education). She is an expert in the education of primary school children, and her research also focuses on the education of children, pupils, and students with life-limiting and life-threatening conditions.

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