Physical Therapy Division, Brace Place, and Motion Analysis Laboratory, Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Neb
Address correspondence to: Wayne Stuberg, PhD, PT, PCS, Associate Professor and Director, Physical Therapy, Brace Place, and Motion Analysis Laboratory, Munroe-Meyer Institute for Genetics and Rehabilitation, 985450 Nebraska Medical Center, Omaha, NE 68198-5450. Email: firstname.lastname@example.org
Implementing a plan of care for an individual with Duchenne muscular dystrophy (DMD) requires attention to the use of assistive technology to allow continued independence in mobility and accessibility as the disease advances. A tool to assist the pediatric physical therapy practitioner in making the decisions in the plan of care is the “Guide to Physical Therapist Practice.”1 This guide describes the parameters that are typically used by physical therapists to design and implement plans of care. In the early stages of DMD, the musculoskeletal practice pattern for “impaired muscle performance” is most appropriate. However, with advancing weakness, a gradual shift from the musculoskeletal pattern to the cardiovascular/pulmonary pattern, specifically the pattern for “impaired ventila-tion and respiration/gas exchange associated with ventila-tory pump dysfunction or failure,” is indicated.
Within each practice pattern are components of the physical therapy examination; the following three components are the focus of this case report: (1) living environment, (2) work/school/play environment, and (3) assistive/adaptive devices. These components are critical areas to be addressed to avoid disability in DMD that could otherwise not be avoided. Although the impairments of progressive loss of muscle strength and decreasing flexibility are hallmark features of DMD and are the focus of significant attention by healthcare professionals, this case report focuses on the issues of accessibility in the home and use of assistive and adaptive equipment.
Craig is a 26-year-old man with a diagnosis of DMD. He was diagnosed in 1980 at the age of five years by a neurologist at a clinic sponsored by the Muscular Dystrophy Association (MDA). The physician’s diagnosis was based on the findings of clinical examination and the presence of an elevated level of serum creatine phosphokinase (CPK). The family did not desire an electromyographic workup. Genetic testing was not done because in 1980 the gene defect underlying DMD had just been described in the literature and work was under way to identify dystrophin as the missing protein. Clinical examination results revealed a pattern of proximal muscle weakness, pseudohypertrophy of the posterior calf musculature that included a rubbery consistency on palpation, inability to rise from the floor without using his hands for support on his thighs (Gower maneuver), and hyporeflexia. Craig’s CPK level was 100-fold greater than normal. In 1991, when Craig was 16 years old, the family consented to genetic testing. A deletion consistent with either DMD or Becker MD was identified; however, the family did not authorize additional testing to confirm the absence of dystrophin, which is consistent with a diagnosis of DMD. Therefore, it is unclear whether Craig has DMD that is progressing much slower than average or whether he has a more rapidly progressing case of Becker MD. An extensive review of the typical progression of DMD and Becker MD can be found in Brooke’s text on neuromuscular disease 2 or on the Online Mendelian Inheritance in Man 3 web site. Craig’s only surgical intervention included a spinal fusion at the age of 16 years for management of his scoliosis.
ASSISTIVE TECHNOLOGY PLAN
Home accessibility and the use of adaptive equipment became issues for Craig and his family when he reached the age of eight years. He required the use of night orthoses to control the progression of his posterior calf contractures, and he was beginning to have difficulty climbing stairs, requiring the use of a handrail. The photographs in Figure 1, taken at age nine years, show the asymmetrical contractures at the ankle, pseudohypertrophy of the posterior calf musculature, excessive lumbar lordosis secondary to abdominal and hip extensor weakness, and winging of the scapula due to weakness of the shoulder girdle musculature. Use of orthoses for walking to control the ankle position was unsuccessful for Craig, as is true for most children with DMD, because the ability to balance using distal musculature is impaired by immobilization with orthoses. The plantar flexion stop of an ankle-foot orthosis also presents a hazard of unlocking the knee when walking down inclines as progression of weakness of the quadriceps becomes apparent. The use of orthotics or splints at night has been shown to slow the progression of ankle plantar flexion contractures, 4 and this approach was used as part of Craig’s home program.
By age 12 years, Craig was using a motorized, three-wheeled scooter for long-distance mobility, and at age 14 years, he used the scooter for full-time ambulation. At age 12, the family also acquired a manual wheelchair for Craig because the home was not accessible to the scooter. Craig was able to use the manual wheelchair for mobility only on smooth floor surfaces, such as linoleum, because of the degree of proximal muscle weakness of the shoulder girdle. The manual wheelchair provided a mobility option for the family in the home and also at locations that were not accessible with the scooter. His manual wheelchair prescription included removable solid back and seat inserts, a cushion, and removable arm and leg rests.
Although surgical intervention and the use of knee-ankle-foot orthoses (KAFOs) have been reported to prolong walking in children with DMD, 5,6 another management philosophy is to use power mobility when walking becomes difficult. 7,8 Craig and his family decided he would use power mobility for independence in ambulation rather than undergoing surgical intervention and wearing KAFOs. Craig and the family made the decision not to initiate a passive standing program using a stander. By age 14, he was no longer able to transfer from the floor to standing or to stand from a seated position without maximal assistance. He was also no longer able to climb stairs. His plantar flexion contractures had progressed to 20 degrees, and, more importantly, his hip flexion contractures exceeded 20 degrees and he could no longer fully extend his knees to attain a passive position of stability in standing. A sliding board was used for transfers to and from his manual wheelchair or motorized scooter.
The use of power mobility raised numerous accessibility and transportation issues for the family. Craig’s parents’ home has a split-level floor plan with access to the basement from the garage. Access to the main floor was available only by climbing stairs; thus, modification of the home was required. Rather than move, the family chose to install an elevator for access from the basement to the main floor and a sidewalk from the front to the rear of the house with a deck in the rear for another entrance to the main floor. Figure 2 shows the ramp that was built for accessing the deck in the back of the home. The elevator (National Wheel-O-Vator Company, Inc, Patterson, La) was installed to access the main floor of the house during inclement weather (Fig. 3).
Craig initially used a motorized scooter when he was in elementary school; the scooter could be disassembled and transported in a car trunk. The scooter used when Craig attended middle school was transported by a school van. Because his trunk control declined, a power wheelchair was obtained when he was 18 years old. The issue of transporting a larger motorized scooter and then the power wheelchair became an issue for Craig and the family. A decision was made to acquire a van with a lift. The van lift (Ricons Inc, Sun Valley, Calif) Craig currently uses with his power wheelchair is shown in Figure 4.
Although the family initially used a Hoyer lift (Guardian Sunrise Medical, Carlsbad, Calif) for all transfers (Fig. 5), later modifications of the home were completed to facilitate caregiver assistance with bathing and toilet use. Additional modification of the home was also needed because the bathroom was not accessible with the power wheelchair. The family installed a wheelchair-accessible bathroom in the basement of their home and installed a SureHands lift system (Handi-Move International, Pine Island, NY) for access to the bathtub and toilet (Fig. 6). The lift system is operated by one assistant, and because the track is located between the toilet and bathtub, transfer from the wheelchair to either area is easily accomplished. A sink that is wheelchair accessible was also installed.
Figure 7 shows Craig’s power wheelchair. His wheelchair specifications include an Invacare Arrow Storm with weight-shifting power tilt-n-space (Invacare, Elyra, Ohio), forearm troughs, standard joystick, Otto Bock headrest (Minneapolis, Minn), and StimuLite honey comb cushion (Supracor, Inc, San Jose, Calif). A manual wheelchair with solid back and seat inserts is also available for use during required repairs of the power wheelchair or when attending activities in settings not accessible with the power wheelchair.
Additional equipment that is now used includes a biphasic positive airway pressure (BiPAP) ventilator and an incentive spirometer (Figure 8). Use of the BiPAP ventilator began at the age of 26, when Craig’s forced vital capacity had decreased to 17% and pulmonary testing demonstrated metabolic alkalosis. The spirometer is used as part of his pulmonary exercise program. Both pieces of equipment have significantly improved his comfort while sleeping at night and are believed to decrease the magnitude of complications when he has an upper respiratory tract infection.
The importance of funding resources is critical to families of children with DMD. Significant funding is need to acquire equipment or to make the home accessible. A combination of insurance, personal resources, funding through the MDA, 9 the Nebraska Assistive Technology Project, 10 and donations were used to address Craig’s equipment and accessibility needs. Coordination with social services through an MDA clinic or state assistive technology funding coordinator may be helpful; however, diligence to the issue by the family is the most critical factor.
RESULTS OF INTERVENTION
As the severity of Craig’s impairments progressed, increasingly more assistive technology was required to maintain his independence in mobility. The technology and home modifications were also required for accessibility and to facilitate caregiver assistance with activities of daily living.
The physical therapist needs to be integrally involved with the healthcare team to identify and document the progression of clinical signs. The advantage of working with genetic disorders is that often there is a known prognosis for progression. With DMD the knowledge of the prognosis allows the therapist, family, and individual to plan for future needs such as equipment and funding. Funding authorization and equipment acquisition can often require up to six months or longer. In the case of home modifications, a far longer time line is needed. Therefore, home modifications and equipment needs must be anticipated and the process initiated by the therapist working with the family as soon as reasonably possible. This process can be particularly stressful for families because the need for home modification or equipment is a reminder of the progressive nature of the disease and avoidance or denial is a natural tendency. Delay in moving forward on necessary changes, however, can later create a crisis if a family member is injured while trying to complete a transfer that should be done with a mechanical lift or if the individual is unable to participate in activities because of improper equipment.
Although the physical management of DMD is an important aspect of the physical therapy plan of care, the issues of accessibility and use of assistive technology to maintain independence are arguably of greater importance in the transition periods from childhood to adolescence and finally adulthood. No treatment can prevent the progression of the disease, but disability can be minimized by the use of properly fitting and functioning equipment. Assisting the family with available equipment options, documentation of medical necessity, and coordination of services are all important tasks for the physical therapist in carrying out a comprehensive plan of care.
Coordination between the physical therapist providing services at school and a therapist working in a medical environment may be necessary to meet the needs across environments. In Craig’s situation, there was coordination between the therapist providing services at school and a therapist at a local MDA clinic. This type of service coordination helps to avoid conflicting programming and assures that the needs of the individual and family are being met. The result for Craig is a home environment with assistive technology that meets his needs so he can focus his time on his abilities and not his disability.
The author acknowledges Craig and his family for assisting in the development of this case study. Their participation in this project exemplifies their concern in helping families who are currently dealing with issues that have been significant in their lives. Through their sharing they make the path easier for others to meet the needs of their loved ones.
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© 2001 Lippincott Williams & Wilkins, Inc.