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Rehabilitation of the Child with a Neuromuscular Disorder
Introduction
Rehabilitation is that branch of medicine concerned with helping patients gain optimal function within the scope of their physical and cognitive limitations. The development and implementation of a realistic and cost-effective rehabilitation program for the patient necessitates a “correct diagnosis” and an understanding of the natural course of disease. Furthermore, a team of professionals skilled in all areas of rehabilitation best develops a rehabilitation program.
In our experience, an interdisciplinary rather than a multidisciplinary approach, in which team members individually provide input to what a patient needs, is most effective. The advantage of the former approach is that each team member is not only skilled in a specialty but also has a working knowledge of and a respect for the skills of the other team members. Pediatric rehabilitation differs significantly from adult rehabilitation because growth and development must be considered when evaluating physical or cognitive disability. Furthermore, a child’s disability cannot be evaluated without taking into account the family and its commitment to participate in the rehabilitation program. As such, the rehabilitation team for a child with neuromuscular disease is made up of many different clinical specialists, family and community members, and dedicated organizations that provide services for children with neuromuscular disease. Clinical specialties with expertise applicable to the needs of patients with neuromuscular disease include, but are not limited to, the following: neurology, physiatry, orthopedics, pulmonology, cardiology, nutrition, genetic counseling, social work, physical therapy, occupational therapy, vocational therapy, speech therapy, respiratory therapy, psychology, recreational therapy, and special education.
Most childhood neuromuscular disorders have a known, relatively predictable course with respect to distribution of muscle weakness, progression of weakness, development of skeletal deformities, and impairment of mobility. With this understanding, the rehabilitation team must, to the best of their ability, anticipate the next stage of a disease and minimize or prevent complications. In addition to the continued rehabilitation therapies, access and funding become important issues, especially in lifelong disabling conditions. The rehabilitation team must be aware of what resources are available to each patient and make the proper referrals. Third-party payers including commercial insurance companies and state-funded programs must be educated to ensure that needed services are covered and are being provided, and the physician must be a patient advocate in this situation.
This chapter will introduce the World Health Organization (WHO) model of describing a rehabilitation program for neuromuscular diseases, but we shall not fully integrate this model into our discussion of rehabilitation programs for neuromuscular diseases. The International Classification of Functioning, Disability and Health (ICF) is WHO’s framework for measuring health and disability at both individual and population levels. The ICF was officially endorsed by all 191 WHO Member States in the Fifty-fourth World Health Assembly on 22 May 2001 (resolution WHA 54.21). The ICF domains are classified from body, individual, and societal perspectives by means of two lists: a list of body functions and structure, and a list of domains of activity and participation. Since an individual’s functioning and disability occurs in a context, the ICF also includes a list of environmental factors ( Figure 53.1 ). An extensive review of this topic is available on the ICF website.
Rehabilitation Goals and Programs
The overriding principle is to maintain function within the scope of the individual’s limitations, which include weakness, orthopedic deformities, cardiopulmonary problems, nutritional difficulties, and cognitive limitations. Assessing function is a complex, yet essential, component in the evaluation of any patient. As noted in the ICF model, in order to assess function adequately, the clinician must understand the functional demands of the individual patient relative to their particular lifestyle. The principles of rehabilitation for most childhood neuromuscular diseases are similar. While evidence-based medicine for rehabilitation programs for most of the neuromuscular diseases is limited, published consensus statements outlining standard of care are available for some disorders.
The mainstays of treatment for individuals with neuromuscular diseases are (1) rehabilitation therapies , (2) assistive devices , and (3) technology. Regardless of the child’s functional stage, (1) ambulatory stage , (2) nonambulatory stage , and (3 ) stage of prolonged survival , the rehabilitation approach can be categorized into four domains, all of which must be considered when developing a rehabilitation plan for a child with neuromuscular disease: (1) strength, (2) orthopedic deformity, (3) cardiopulmonary dysfunction, and (4) cognitive dysfunction. Early intervention is important to prevent the sequelae of weakness to the greatest extent possible and to promote achievement of developmental milestones.
Rehabilitation Therapies
Strength and Endurance
Muscle strength is decreased in the muscle groups significantly affected by a neuromuscular disorder. Usually, in myopathic disorders, muscle weakness is most pronounced in the proximal musculature. The reverse is true for neuropathies where weakness is most pronounced in distal musculature. However, there are distal myopathies and proximal neuropathies. Whether muscle weakness has an effect on function will be dependent on the magnitude of the weakness, distribution of the weakness, and amount of strength required for a functional task. Endurance limitations resulting from muscle disease depend upon the functional reserve that every individual has for a given activity or task. Determining the amount of endurance required to complete a given task will aid in determining if the endurance limitation is such that task completion is (i) still possible independently; (ii) possible but only with more time given to complete it; (iii) possible, but only with assistance; or (iv) not possible at all. Even if independent task completion is still possible, patients will often choose dependence if it means not using up their functional reserve. Energy conservation becomes essential.
Muscle strength is maintained through frequent contractions, which must produce tension sufficient to exercise the muscle. Lack of physical activity will result in deconditioning, which will have marked deleterious effects in a child with neuromuscular disease, whose functional reserve is reduced even at baseline. Disuse atrophy may lead to joint malposition, nerve compression, and pain. The best way of preserving strength (or at least slowing the progression) in a patient with muscle disease is through performance of daily physical activity.
Strengthening exercise, or exercises that are used to maintain or improve a muscle’s ability to generate force, helps to maintain function, avoid injury, and prevent disability. Skeletal muscle weakness is the cardinal sign and symptom of nearly all neuromuscular conditions. Strengthening exercises can be tailored for weak and strong muscle groups and can be performed with or without resistance.
In other neuromuscular diseases, largely with adults, there are several examples of the beneficial effects of exercise programs on function and strength. Methodological limitations have contributed to the failure of consistent incorporation of exercise into clinical care of patients with neuromuscular diseases. A Cochrane Review of exercise studies in muscles disease deemed only 2 of 36 trials to be of acceptable methodological quality for inclusion into evidence-based recommendations. For future studies, the Cochrane reviewers recommended a regularly supervised, well-defined exercise program that is consistent with the Physical Activity Guidelines for Healthy Americans. Until more specific evidence is available, a moderate intensity, supervised program that includes strengthening exercises in combination with aerobic exercise is recommended.
Permit Weight Bearing
Functional weight bearing is important to maintaining the child’s general health and requires a stable base of support and effective joint alignment. In patients with significant muscle weakness, this goal is often achieved by the use of external supports, such as orthoses, proper footwear, assistive devices for standing, and gait aids.
Prolong Standing/Walking
The positive effects of standing and upright mobility involve multiple organ systems, such as the genitourinary, digestive, respiratory, cardiac, skeletal, and neuromuscular systems, as well as psychological wellbeing. A study questioned families attending neuromuscular clinics regarding quality of life and found that 89% named activities and health issues related to prolonging ambulation as most important to them. However, the high energy costs of ambulation compared to the energy costs of using the wheelchair is often taken into consideration, particularly when navigating community distances. Attempts to prolong standing and ambulation, as long as it does not impair the child’s safety or require too much use of their energy for their function, is recommended.
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