Muscular dystrophy (MD) is a complex collection of genetic disorders that invariably lead to progressive weakness from degeneration of skeletal muscle. The muscular dystrophies are inherited or de novo gene mutation disorders of either the sarcolemma-associated proteins or the nuclear membrane-associated proteins.1 Absence or alteration of these proteins leads to necrosis of striated muscle. The protein defect also may be expressed in cardiac muscle cells, resulting in a dilated cardiomyopathy, conduction defects, or both. The expression of the genetic defect within neuronal and glial cells may result in mental retardation and neuronal migration disorders.
The clinical manifestations of the muscular dystrophies vary in the age of onset of muscle weakness, the distribution of muscle weakness, the presence of cardiac and neuronal involvement, and the rate of progression of the disease. Some patients, such as those affected by congenital MD, demonstrate weakness at birth or early infancy, whereas Becker MD or fascioscapulohumeral MD may present in adolescence with muscular weakness.
Duchenne MD, the most common of the muscular dystrophies in childhood (1 in 3,500 live-born males), demonstrates many of the complex management aspects of the muscular dystrophies. The pathophysiologic disturbances that occur during the life span of a boy born with Duchenne MD - muscle weakness leading to loss of ambulation, respiratory insufficiency, swallowing difficulties, cardiac abnormalities, nutritional concerns, osteoporosis, and the psychosocial and emotional issues that accompany these disturbances - require the interaction of multiple disciplines to ensure success. Although this article focuses on the child with Duchenne MD, concepts are applicable to many of the other muscular dystrophies.
INTEGRATION OF MULTIPLE DISCIPLINES
Many different models of care for Duchenne MD have been proposed to promote the interaction of multiple disciplines. Boon et al.2 suggested a continuum of seven healthcare practice models: parallel, consultative, collaborative, coordinated, multidisciplinary, interdisciplinary, and integrative. These models exist along a continuum from nonintegrative to fully integrated approaches toward patient care. Parallel, consultative, and collaborative models of healthcare involve independent practitioners, whereas the coordinated model begins to develop a more formalized structure to facilitate communication and sharing of medical records.
The multidisciplinary model, a more formalized outgrowth of the coordinated model, is characterized by a team-oriented approach. Each team member continues to make his or her own decisions, but their recommendations are integrated by the team leader. The members may or may not meet face-to-face. The patient is often a mere recipient of care; consequently, the exchange of information among team members, patients, and families suffer.
Interdisciplinary care describes a deeper level of collaboration in which processes such as evaluation and the development of a plan of care are done jointly, with professionals of different disciplines pooling their knowledge in an interdependent manner. This team of professionals works toward a common goal by carrying out the responsibilities of each particular discipline while accepting added responsibility as a group toward the patient's outcome. Treatment goals are set collaboratively by the members of the team, along with the patient. This requires regular face-to-face meetings by the members of the team to formulate decisions regarding patient care.
The family is an integral member of the interdisciplinary healthcare team. It is important to recognize that parents want to be informed and active in medical decision making.3 Although parents' wishes vary in the amount of control they desire in decision making, parents are the experts when it comes to specific information about the child and the family situation.
Teamwork and team, however, are not interchangeable concepts. Katzenbach and Smith4 see the team as a means rather than an end, while teamwork is about performance and how to achieve the primary objective. The concept of teamwork is the essence of interdisciplinary care.
COMMUNICATION AND COORDINATION
Heinemann5 described characteristics of effective teamwork: communication, cooperation, cohesiveness, commitment, collaboration, coordination of efforts, conflict management, consensus decision making, and caring for patientcentered outcomes. Of these characteristics, coordination is the most central element because the effective functioning of the team, and communication is the thread that ties it all together. The formulation and communication of a care plan among the team, the child, and the parent is critical to the successful interdisciplinary management of a complex illness such as MD.
A unique process for improving communication, clinical decision making, and care planning has been developed by the Pediatrie Palliative Care Consulting Service at the Children's Hospital and Regional Medical Center in Seattle, WA.6 The process is an adaptation of an ethical decision making model developed by Jonsen, Seigler, and Winslade.7 The model is widely applicable to different care settings and maintains the child and family at the center of the process. The tool has four domains: medical indications, patient and family preferences, quality of Ufe, and contextual issues.
The medical indications domain documents the diagnosis, symptoms, and treatments, including risks and benefits. The patient and family preferences domain takes into account the developmental stage of the child and the communication style of the child and family. The components of Ufe that give meaning to the child and family are noted in the third domain. Circumstances of the child's life that affect access and delivery of care fall under the contextual domain.
Once all four domains are considered, an action plan is formatted, and the person responsible for the completion of each item is established. The plan is dynamic and can be altered in response to a request from the child or family or to clinical changes in the disease.
Focus groups of parents of boys with Duchenne MD and families of children with neurodegenerative illness have described their experiences with the healthcare system.8 Families report frustration with poor communication and fragmentation of care. The aspects of care they listed as critical for the management of the child's disease were the availability of appropriate information regarding the disease and its treatment, a coordinator to promote continuity of care, and effective communication between parents and healthcare providers. When palliative care is initiated early in the course of a chronic life-threatening illness, some of its responsibilities may involve coordinating care, communicating the child's treatment plan to all healthcare providers, integrating services and resources, Unking service systems with the family, and advocating for improved individual outcomes.9
The process of interdisciplinary management should result in an outcome exceeding that which can be achieved by the individual members. However, empiric evidence that improved patient outcomes result from interdisciplinary team management has been difficult to establish. Examples of improved patient outcomes from an interdisciplinary model are suggested in research from interdisciplinary rehabilitation and pain management programs.10'11
Despite progress in the therapeutic and technological support of children with MD and the potential of gene manipulation and stem-cell therapy, there remains no cure for these illnesses. The goal of care is to maintain or improve the quality of life for these children and their families. Palliative care, with its emphasis on relieving physical, psychosocial, emotional, and existential suffering, is a perfect complement to the interdisciplinary approach to the care of MD.
Traditional models of healthcare have emphasized a disease-focused approach. One may argue that such a model neglects the more holistic needs of the family and their child. If one accepts a broad definition of palliative care as a philosophy of medicine that attempts to fill gaps in care that arise as patients experience a chronic, life-threatening illness, one can better understand the possibilities of palliative care.12
Traditionally, palliative care has been most often associated with cancer and end-of-life concerns. However, a far larger group of children living with chronic, life-threatening illness experience the same difficulties in relieving the physical symptoms of their disease, and in coping with the psychosocial and spiritual stresses of their illness, as do their counterparts with cancer.
In spite of the American Academy of Pediatrics recommendation13 for the early incorporation of palliative concepts at the time of diagnosis of a life-threatening illness, children, their families, and their physicians often struggle with early introduction of palliative care. The problem arises because hospice and palliative medicine share a similar philosophy. Both wish to address the physical, emotional, and spiritual needs of patients and their families. Hospice deals specifically with end-of-life, as defined and limited by government regulations. Palliative care takes these same concepts and employs them early in the illness trajectory of patients and families with life-threatening illness whether it results in cure, chronic disease, or death.14 Early introduction of the palliative team allows time for the development of a relationship built on trust, which is so important during the provision of end-of-life services later in the disease trajectory.
PALLIATIVE CARE NEEDS OF CHILDRENWITHMD
MD has many manifestations, with Duchenne MD being the most common form affecting children. Steele15 described the illness pattern of children with neurodegenerative disease and the processes with which the families navigated as they and their child lived with a life-threatening illness. There are useful parallels when examining the course of Duchenne MD.
The families of children with neurodegenerative disease live much of their lives on plateaus of relative stability where they often feel alone and isolated from healthcare professionals. Precipitating events in the child's health lead to the families' loss of stability and of a progressive decline until they reached the next plateau. Families of children with Duchenne MD also experience plateaus of relative stability, particularly surrounding the use of steroids, but inevitably, a crisis intervenes - a chest infection, loss of ambulation, loss of ability to swallow, or so on. This results in a significant decline, eventually reaching another plateau. Ground lost is seldom regained. Although the families grieve with each decline, they adjust their lives with each change in condition.
While the child's illness is at a plateau, parents tend to keep their thoughts about the illness and prognosis in the background. Families work hard to extend the length of the plateaus, not only to maintain the child's health but also to lessen the disruptions to family life. Treatment options become more limited as the illness progresses, while physical and psychosocial and emotional supportive options become more important The psychosocial and emotional aspects of Duchenne MD present an opportunity for integrating the palliative care team.
Children with chronic illness have a risk of significant psychological or social problems during childhood estimated at up to three times that of their healthy peers.16 Psychological and behavioral problems have been reported for boys with Duchenne MD.17'18 In young boys, the behavior problems may be a consequence of language delay that may be amenable to early intervention strategies geared to improving language skills and reading. Behavioral problems also may be a normal mechanism for coping with the disease and its challenges.19 Older boys with Duchenne MD often experience depression and social isolation as the physical limitations of their disease further remove them from their peers.
Families also experience significant psychosocial stress in caring for children with Duchenne MD. At the time of diagnosis, as well as with every deterioration in their child's health, parents grieve their lost dreams for their child and their loss of relationships with extended family and friends. Mothers often instinctively blame themselves for passing on a mutated gene to their sons. Fathers, unable to "fix things," may experience a sense of helplessness. Thompson et al.20 found that 57% of parents with Duchenne MD children had self-reported poor psychological adjustment.
In addition, siblings frequently feel devastated regarding their brother's condition, guilty over being the normal one, and jealous of all the attention afforded their brother. Parents of children with MD also experience difficulties in communicating with each other, with their son, and with his siblings.21 Clearly, Duchenne MD disrupts the emotional, psychological, and spiritual fabric of the entire family, and changes the family structure and patterns of interactioa The palliative team members in the psychosocial and child Ufe areas, who are skilled in assessing the child's and family's coping and communication style, can partner with the family to develop solutions for these issues.
Respite service, a fundamental component of palliative care, can offer family members a break from the physical and emotional demands of caring for the child with MD. Respite allows the family to "recharge their batteries" before resuming the demands of care at home. Respite also provides relaxation, enjoyment and opportunities for socialization, education, and fostering independence in the child with MD.22
The most critical periods for Duchenne MD families are at diagnosis, at cessation of ambulation, during adolescence, and in the later stages of the disease.23 There are no data to recommend the timing of the introduction of palliative interventions. The palliative care team may be introduced early in the course of the child's disease, but more commonly, our palliative care team is consulted during adolescence.
Normally, adolescence is a time for developing self-esteem and independence as one gradually moves away from parental ties and masters opportunities that exist outside the family. However, by adolescence, the child with Duchenne MD often has lost ambulation and experienced a significant decline in his physical capabilities. As the disease progresses, he requires an increasing level of assistance with activities of daily living. He must confront the possibility of noninvasive respiratory assistance, corrective surgery for scoliosis, diminishing ability to swallow, and other complications of his conditioa These challenges often lead to overprotection by the parents and learned passivity by the patient Physical restrictions and changes in the body lead to nonacceptance by peers and social isolation. Such challenges require significant psychosocial support.
While parents may need support in fostering self-esteem and responsibility, their adolescent sons may require counseling regarding peer interactions and socialization. An essential element of palliative care is to anticipate these challenges and plan in advance to recognize the wishes of the child and parent as serious or life-threatening problems develop. Families who can anticipate such events are better prepared to cope with the later stages of the illness.24
It is important to involve the child, and particularly the adolescent, in discussions of the natural history of the illness and its anticipated treatment options. When adolescents with chronic illness were questioned about their preferences and priorities for healthcare quality, they rated aspects of interpersonal care as important as the technical competence of the physician when judging the quality of their care. In particular, adolescents want their physicians to be honest with them. Additionally, they want to participate in their own care and to have their viewpoints and concerns taken seriously.25
When discussing medical decision making for children and adolescents, several ethical and legal issues arise. Because up to 30% of young men with Duchenne MD are intellectually handicapped, the issue of decision making capacity must be considered. Decision making capacity is a clinical assessement, as opposed to the legal concept of competence. The Hastings Center suggests that decisionmaking capacity exists when a patient has the ability to comprehend information relevant to the decision, the ability to deliberate about choices in accordance with personal values and goals, and the ability to communicate (verbally or nonverbally) with caregivers.26 These criteria serve as a scale a physician can use to make a clinical judgment.
Only patients who have appropriate decision making capacity and legal empowerment can give their informed consent for medical care. In all other situations, parents or other surrogates provide informed permission for diagnosis and treatment of children, with the assent of the child whenever appropriate.27 In the ideal world, the process of informed consent takes on a shared responsibility among the child, physician, and parent in determining what is best for the child.
The adolescent presents a unique situation. Up to age 18, the adolescent is not considered legally competent to make independent decisions. However, considerable opinion exists to support the ability of an adolescent with decision making capacity to make binding medical decisions for himself or herself, including end-of-life issues.28,29 Adolescents suffering chronic illness often reach a level of cognitive and psychological understanding of their disease and its trajectory that far exceeds their cognitive age. Consequently, the appropriate role for the physician treating an adolescent is to respect his or her evolving autonomy and promote his or her position as a decision maker.
Anticipatory discussions of approaching respiratory failure or cardiac dysfunction and the end-of-life issues that surround organ deterioration are an essential component of palliative management for the adolescent with Duchenne MD. Respiratory failure may occur either suddenly, in conjunction with a respiratory infection, or gradually. Cardiac involvement may take the form of a sudden onset of ventricular arrhythmia or as congestive heart failure resulting from dilated cardiomyopathy. Discussions with the patient and parent of options for treatment or palliation should precede the development of organ dysfunction.
There is evidence that physicians caring for patients receiving long-term ventilatory or inotropic support underestimate the quality of their patient's life.30'31 Hence, the physician tends to presents the options in a biased, unfavorable light, or fails to inform patients adequately about these options. Rather, the patient and family perspectives of quality of life should be sought out and respected. Decisions regarding long-term support of respiratory or cardiac function should be the informed judgment of the patient and the family, and appropriate options for treatment or palliation should be presented without bias.32
Parents and caregivers often find it difficult to plan or discuss issues of dying with their child. Opportunities for discussions of possibility of death with the patient and family may come at any time but most commonly arise with deterioration in the child's physical status. Parents may attempt to avoid discussion of end-of-life issues as a means of sheltering themselves, the patient, and siblings from the emotional darkness that they perceive.
Open-ended questions geared to solicit the patient's or parents' understanding of just what the declining physical status means to them often serve as an opening for discussioa Not uncommonly, the patient may be the first to voice the possibility of death. Regardless of how such conversations are initiated, the goal is to align the family with the truth in an age-appropriate and culturally sensitive manner.33 It is comforting to the parent to recognize that, in a large study of parents of children dying of malignancy, no parent regretted talking with his or her child about death.34 Once the patient or parent decides that the burdens of therapy outweigh the benefits of continued aggressive management, the goals of care should emphasize comfort and psychosocial support Goals of care shift from a technological focus to what brings substance and meaning to life. Family, religious, and cultural rituals need to be respected.
Children and adolescents fear that they will be forgotten in death. Members of the palliative team can develop memorybuilding initiatives for the patient and family. Additionally, the psychosocial and anticipatory grief issues of siblings need to be addressed.
Following the death of the child, bereavement care should be offered to the entire family for an extended period of time, recognizing that a family's bereavement may last for years.35 Likewise, written resources on grieving and information on support groups should be made available to the family.
The care of children with MD presents many complex issues. An interdisciplinary team, focused on patient and family outcome, that incorporates palliative care initiatives can best outline and meet the goals of family-centered care. The early introduction of a palliative team allows for a relationship of trust to develop, serving as the foundation for the many interventions necessary to fill the gaps in care that arise during the care of a child with a chronic, life-threatening illness such as MD.
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