Table 2 Summary of recommendations by outcome
From: Physiotherapy for epidermolysis bullosa: clinical practice guidelines
Strength of recommendation | Quality of evidence | Key references | |
|---|---|---|---|
A. Desirable consequences probably outweigh undesirable consequences in most settings, for this reason we suggest offering these options | |||
R1. Optimize developmental motor milestone attainment | D | ||
Aim of physiotherapy is to prevent contractures and reduction of muscle power and to encourage normal motor development using a range of therapeutic skills | 4 | 9 | |
Newborns/Infants: prevention of new blisters is attempted by gentle handling | 3 | 7 | |
Care for individuals with EB requires a multidisciplinary team (MDT) for interdisciplinary care (IDC) | 3 | 8 | |
R2. Optimize safe and functional mobility in their natural environment | C | ||
Across all major subtypes of EB, there exists a cumulative risk to develop musculoskeletal contractures in areas other than hands and feet; risk increases with age | 1- | 10 | |
Exercise the feet to keep them in good health | 4 | 17 | |
Aid of a lower extremity prosthesis* along with a cane, allows for community distance ambulation | 3 | 23 | |
Wearing a lower extremity prosthesis and not utilizing a cane, allowed for household ambulation | 3 | 23 | |
Mobility increases muscle strength, balance and coordination in RDEB patients | 3 | 11 | |
R3. Optimize/Enhance/Elevate ambulation endurance and cardiorespiratory function | D | ||
Mobility was a stronger predictor of bone mineral content than the type of EB | 3 | 15 | |
Promotion of gentle weight bearing activity such as standing and walking, including interventions such as vibratory platforms, maybe helpful | 3 | 14 | |
Provide mobility aids, such as tricycles, for safe longer distance use by the more severely affected patients | 4 | 9 | |
Mobility is positively associated with bone mineral density (BMD); increase in BMD is correlated with higher category of weight-bearing activity | 4 | 13 | |
Verified small body size and inactivity are associated with low BMD | 3 | 13 | |
Weight bearing activity and mobility suggested to be a significant factor in improving BMD in adults with RDEB | 3 | 11 | |
R4. Optimize ability to safely bear weight | D | ||
Full physiotherapy assessment of all joint ranges of movement, muscle power, gross motor abilities and motor development should be performed | 4 | 9 | |
For infants, knee padding and soft special shoes are required to prevent blistering | 4 | 2, 26 | |
Provide advice on footwear | 4 | 9, 17 18 | |
Orthotics/splints may also be necessary with careful choice of materials, can be useful adjunct to therapy | 4 | 9 | |
Semi-rigid orthotics are functional and cushioning; they provide support and allow movement, with a cushioning element and reduced friction | 4 | 17 | |
Use of a lower extremity prosthesis* after unrelated fractures, allowed return to weight bearing activities | 3 | 23 | |
R5. Improve access to appropriate PT services | D | ||
An early rehabilitation consult with frequent re-evaluations is recommended and essential for optimum management to encourage and facilitate weight-bearing activity and independent function | 3, 4 | 9, 26, 21 | |
In some areas, specialized EB Clinics exists with comprehensive care in one visit | 3 | 7 | |
As not all patients can be looked after in specialized centers, non-EB practitioners should seek support from established EB Centers, EB Care Network or ‘DEBRA’ foundations | 3, 4 | 7, 26 | |
Physiotherapists are recognized as an integral member of the multidisciplinary team (MDT) | 3, 4 | 7, 19, 20 | |
Education regarding role of physiotherapy | 3, 4 | 19–21 | |
The goal to optimize EB patient healthcare requires the implementation of a wide range of measures by establishing in each country a center of expertise. EB Centers would guarantee a multidisciplinary care service. Equally essential is the sharing of standards of care among expertise centers | 4 | 20 | |
B. The balance between desirable and undesirable consequences is closely balanced or uncertain, for this reason we suggest offering this option | |||
R6. Optimize interaction with environment | D | ||
Fostering independence and safety during activities of daily living (ADLs) requires environmental modifications (i.e.: wheelchair and footwear) | 4 | 28 | |
Proper fit of an upper extremity prosthesis* allowed continuation with most ADLs to achieve quality of life (QoL) and functional goals, such as driving and continuation of work | 3 | 22 | |
Lower leg prosthesis* for a generalized DEB person provided ability to achieve full weight bearing after leg amputation with and without a cane for community and home ambulation, respectively | 4 | 23 | |