Table 2.
Summary of recommendations by outcome
| 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 | |
KEY: R, recommendation; EB, epidermolysis bullosa; DEB, dystrophic epidermolysis bullosa; RDEB, Recessive dystrophic EB; DEBRA, Dystrophic Epidermolysis Bullosa Research Association; MDT, multidisciplinary team; IDC, interdisciplinary care; BMD, bone mineral density; ADLs, activities of daily living; QoL, quality of life.
*Definition: Prosthesis is defined as an artificial limb
Recommendation panel subgroup voting consensus
There was 100% agreement of panel members who attended meeting and when shared with complete panel after recommendations were written, there were no additional comments to change
Levels of Evidence [5]
4 = expert opinion; 3 = Non-analytic studies, e.g. case reports, case series; 1- = Meta analyses, systematic reviews of RCTs, or RCTs with a high risk of bias
Grades for Strength of Recommendations [6]
No A or B in table; present is one C = Extrapolated evidence from studies rated as 1- and all others were D = Evidence level 3 or 4; or Extrapolated evidence from studies rated as 2 +