This paper is part 3 of an update of the 2010 Duchenne muscular dystrophy (DMD) care considerations.^1,2 In parts 1 and 2 of this Review, we provide updated guidance on the management of this severe, progressive neuro-muscular disease across a range of specialties. In part 3, we present considerations for primary care, emergency management, psychosocial care, and transitions of care across the lifespan. With the exception of psychosocial care, these are new additions to the care considerations, the inclusion of which was motivated by feedback from patients, their families, and DMD advocacy groups.

The first point of medical contact for people with DMD is often their primary care provider or, in acute medical situations, the local emergency department. The rarity of the disease means that clinicians in these settings often have little experience with the complications of DMD, making it difficult for them to provide optimum management. The need for improved primary care and emergency management is a key concern for people with DMD.

Many individuals with DMD are now living into their 30s and beyond.³ With prolonged survival, an entirely new set of issues needs to be addressed with regard to mental health, psychosocial care, and transitions to adulthood. These issues cover some of the basic components of human fulfilment and happiness, and span the domains of education, vocation, maturation, independence, personal relationships, emotional health, and intimacy. The importance of these issues reflects a fundamental change in DMD care: recognition that in addition to increasing longevity, helping individuals to achieve their best possible quality of life is an essential part of health care.

The RAND Corporation–University of California Los Angeles Appropriateness Method (RAM), described in part 1, involves the step-wise rating of clinical scenarios for appropriateness, and then for necessity, by a group of experts. However, owing to the paucity of the relevant scientific literature, the RAM process was deemed to be inappropriate for three of the topics in part 3: primary care, emergency management, and transitions of care across the lifespan. For the fourth topic, psychosocial care, a modified RAM method was used, either because the evidence in the scientific literature had not changed significantly since 2010 or because the panel of experts reached timely unanimous agreement on the subtopic under discussion. Therefore, the care considerations in part 3 largely reflect the consensus opinion of expert panellists, based on their translation of the scarce scientific literature into clinical practice. A complete description of the methods is provided in part 1 and the appendix. Figure 1 in part 1 of this Review provides a brief overview of assessments and interventions across all topics, organised by stage of disease, and is intended to serve as a stand-alone pocket guide to care.

Primary care providers are typically physicians, nurse practitioners, or physician assistants who specialise in paediatrics, family medicine, or internal medicine, and provide a so-called medical home for their patients. The American Academy of Pediatrics describes the medical home as accessible, family centred, continuous, comprehensive, coordinated, compassionate, and culturally effective.⁴ All patients, particularly those with special needs, should benefit from a medical home characterised by accessibility and continuity of care.⁵ The expert panel on primary care and emergency management (committee members listed in part 1 of this Review) strongly endorses the concept of a medical home for individuals with DMD, or equivalent models of primary care such as the UK general practitioner model. These providers should work in partnership with the individual’s neuromuscular specialist.

The primary care provider is often the first medical professional to hear a family’s concern about their child’s muscle weakness, initiating the process that leads to a diagnosis of DMD. A guide to the evaluation of a child with neuromotor delay can be found in part 1 of this Review; the ChildMuscleWeakness.org website provides additional resources. A child with hypotonia and an elevated serum creatine kinase level should be referred to a neuromuscular specialist; however, the primary care provider will often be the person to inform the family that DMD is suspected. The possibility of a diagnosis of DMD should be delivered directly but compassionately, bearing in mind that these early medical discussions tend to set the tone for how patients and their families react to the flow of information throughout the diagnostic process. The primary care provider should make the most of the opportunity to establish a strong and trusting relationship with an affected family, which can provide a much-needed source of stability and support as patients interact with a host of specialised medical providers. The primary care provider should be aware of the significant improvements in survival that have been achieved with contemporary DMD management so that the family is not presented with an overly pessimistic view of the child’s prognosis.⁶

Panel 1 outlines considerations for primary care, summarising the roles of the primary care provider as part of the care team. The goals are for the primary care provider to provide first-line care for acute and chronic medical issues, coordinate care with appropriate specialists, provide trusted advice and continuity of care across the lifespan, and optimise the wellbeing and quality of life of patients and their family members. The recommended structure endorsed by this approach to DMD primary care might be challenged in the context of international variations in health-care delivery. In such circumstances, adaptation of the goals and objectives of the recommended interventions to the local health-care environment is beneficial.

The local emergency department might be inexperienced in caring for individuals with DMD. To optimise patient outcomes, medical providers need a good background in the issues uniquely relevant to the emergency management of individuals with DMD. Panel 2 provides an overview of key issues related to the emergency care of patients with DMD, and is intended to be a useful pocket guide for emergency medicine providers, primary care clinicians, and neuromuscular specialists. The panel is also a resource for patients, who can take this guide with them when they seek emergency care.

A detailed discussion of emergency management is presented in the appendix. Additionally, details on respiratory, cardiac, and orthopaedic and surgical management (including fractures, anaesthesia, and sedation) can be found in part 2 of this Review. A detailed discussion of the use of glucocorticoids and steroid-induced adrenal insufficiency in DMD are discussed in part 1; we recommend the PJ Nicholoff Steroid Protocol for stress steroid dosing.¹⁰

Comprehensive care of individuals with DMD should include surveillance and management of the psychosocial effect of the disease across the lifespan, which now extends well into adulthood for many patients. Many people with DMD are well adjusted to their conditions and the world around them, and lead independent, productive lives. Nevertheless, living with a chronic illness and adjusting to the changes that define the disease require coping strategies and skills, and ongoing emotional support. People with DMD are increasingly recognised to be at risk of delays in cognitive and social development. Comprehensive psychosocial care should therefore address social and cognitive development, as well as quality of life and factors that affect patient and family functioning across environments, including home, school, and work.

Since the 2010 care considerations were published,^1,2 dystrophin expression in the brain has been shown to vary depending on the genetic mutation in patients with DMD.^11,12 Moreover, smaller total brain volume, smaller grey matter volume, lower white matter fractional anisotropy, and higher white matter mean and radial diffusivity have been shown in an MRI study of people with DMD compared with healthy controls.¹³ In this study, the subgroup of DMD patients lacking isoform Dp140 made the largest contribution to the difference in grey matter volume. From a functional perspective, the severity of a patient’s cognitive delay seems to vary with the location of the dystrophin gene mutation and with the effect of that mutation on dystrophin isoforms in the patient’s CNS.^14–17 A well recognised pattern of cognitive strengths and weaknesses can be observed in the neuropsychological profiles of patients with DMD,^18–20 which might warrant diagnosis of a comorbid neurodevelopmental or neuropsychiatric disorder. High rates of intellectual disability (17–27%), learning disabilities (26%), autism spectrum disorder (15%), attention-deficit hyperactivity disorder (32%), and anxiety (27%) have been reported in people with DMD.^17,21–23 Learning difficulties involving language-based skills, such as reading, are also more common than other learning difficulties in this population.²⁴ Furthermore, increased attention has been paid to the course of emotional and social functioning in individuals with DMD over the lifetime.²⁵ The care considerations have been updated to emphasise appropriate screening and assessment of these conditions, and to discuss interventions that might be necessary for individuals with DMD.

Psychosocial support should be developed and implemented across the lifespan in a manner that promotes thinking about the future and sets expectations that individuals will actively participate in their care and daily activities. The key components needed to promote psychosocial health of patients and their families are outlined in panel 3 and described in more detail below. Additionally, the panel’s care considerations for psychosocial care by stage of disease are presented in figure 1.

People with DMD need education and support to make transitions throughout the lifespan. In particular, strategies are needed to help people with DMD to navigate the transition from adolescence to adult life. At ages when adolescents and young adults generally have a desire for greater independence, those with DMD often have increasing health-care needs and physical reliance on others for activities of daily living, which can create challenges in making a successful transition to adult lifestyles. Resources, such as funding, equipment, and care personnel to meet physical needs, can be hard to identify, limited in availability, or difficult to acquire. Some young adults with DMD might experience psychosocial hardships or neurocognitive impairments that affect autonomy and independence. However, for most individuals, full participation in future planning and decision making should be an expectation once proper support and resources are identified and in place.

The 2010 care considerations did not specifically address care transitions. Several conference and workshop summaries have reported on transitions into adult life with DMD, and surveys on experiences of individuals with DMD have indicated deficits in transition guidance and planning.^31–35 However, research regarding successful transition interventions and outcomes is scarce. In developing the current DMD care considerations, the expert panel on transitions of care reviewed the following: published position papers on transition; literature regarding adolescents and young adults with DMD; and transition tools published by advocacy groups, private organisations, and governmental agencies.^36–40 An overview of transition planning is shown in figure 2.

Social connections are crucial for health, wellbeing, recreation, and quality of life. As young people graduate from high school, established peer groups often dissolve, and physical mobility becomes more difficult for people with DMD. Opportunities for personal contact and social engagement happen less naturally and become a rarer commodity for young adults with DMD.⁵³ Suggested steps to create and maintain community connections through social groups and leisure activities are outlined in the appendix. Although participation is common, it is our consensus opinion that excessive time devoted to computer games can become socially isolating because young men with DMD remain at home, limiting their interactions with family and friends.

Dating, intimacy, and sexuality are high-priority topics among men with DMD. Health-care providers should initiate discussions about these topics, as developmentally appropriate (appendix). At-home discussions about relationships, dating, sexual orientation, and marriage are complex and potentially awkward for young adults with DMD, in part due to their dependence on family members for all aspects of physical care. Thus, providers should encourage and facilitate such discussions, including at the time of medical appointments. Potential topics for questions and answers include masturbation, having sex with a partner, and fathering children. It is common for individuals with more advanced cardiorespiratory disease, or with a history of fragile bones, to be concerned about changes in heart rate, blood pressure, respiration, and injury in the context of acts of intimacy. Referrals might be needed outside the clinic for more appropriate counselling and follow-up, since not all medical settings offer a secure, comfortable environment for such discussions.

Primary care, emergency management, and transitions of care across the lifespan are new additions to the DMD care considerations. Primary care and emergency medicine clinicians with a special interest in DMD are rare, and these areas have been understudied. As a result, our care considerations are based primarily on the consensus opinion of expert panellists. Elucidation of best practices in primary care and emergency management would improve quality of care and greatly benefit patients with DMD. More resources will need to be devoted to clinician education and to the support of relevant clinical networks, initiatives, and research to achieve this goal.

Neurodevelopmental and neuropsychiatric conditions are increasingly recognised to be common in DMD; however, the prevalence and optimum treatment of these disorders are not well characterised. We hope that by formally integrating psychosocial care within the neuromuscular clinic, these issues will be more effectively addressed and better understood by clinical providers. Continued study on the development, validation, and application of psychosocial measurement tools and interventions for DMD is needed to further establish evidence-based best practices. Improved psychosocial care could help to reduce disease complications, improve patient quality of life, and reduce caregiver burden.

More emphasis is needed on measures to help people with DMD to attain appropriate levels of education, find employment, and achieve autonomous, fulfilling lifestyles and full societal inclusion. As with many other disabling chronic conditions, adolescents and adults with DMD face obstacles to full participation in many aspects of life. The issue of transitions of care requires substantially more study and the allocation of more medical, psychosocial, and societal resources. Once best practices for transition are established, relevant resources should be made accessible so that patients and their families can derive maximum benefit.