Background
Objectives
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To provide the users with information on current best-practices for the provision of OT for people with EB based on a systematic review of evidence. Where possible, the information will be categorized for paediatric and adult patients.
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This information may be applicable for all patients with variations within the subtypes of EB who have limitations in their ADL due to pain, blister formation, and contractures.
Guideline users
Target group
Methods used for developing this guideline and formulating the recommendations
Literature search
Results
Outcome/Recommendation The balance between desirable and undesirable consequences were uncertain for this reason we suggest consideration of this option: | Strength of Recommendation | Quality of Evidence | Key References |
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a) Activities of Daily Living Relating to Self-Care | |||
D✓ | 3 | ||
• Patients should be an integral part of deciding therapy goals and the focus of OT intervention. | D✓ | 3 | [10] |
• Standardized assessments, checklists, and measures should be used to rate baseline ADL skills and change over time as well as monitor their functional status for any difficulties that may arise. (Additional file 2a) | D✓ | 4 | Expert Opinion |
• OTs are trained to assess a patient’s abilities to perform self- care activities and provide consultation regarding appropriate modifications, adaptations, and recommendations of equipment to aid independence. (Additional file 3) | D✓ | 4 | |
• Infant and child: Infants and children with EB should be encouraged to explore their environments, perform self-care, and participate in gross motor activities with efforts to minimize blister formation. | D✓ | 4 | Expert Opinion |
b) Instrumental Activities of Daily Living | |||
D✓ | 3 | [16] | |
• OTs have a role in promoting a physically active, healthy lifestyle for patients of all ages. | C✓ | 1- | [17]* |
• OTs should promote education, work, and social participation in the community. | D✓ | 3 | [10] |
• OTs should use modifications to promote greater independence in leisure activities and travel. (Additional file 4) | D✓ | 4 | |
• Adult: Adults with EB can work with a therapist or be referred to a driving instructor who specializes in adaptations for driving if there are physical concerns that limit access. (Additional file 3) | D✓ | 4 | Expert Opinion |
c) Maximization of Hand Function | |||
• Infant and child: Patients at risk of developing hand deformities such as those with RDEB should receive a hand evaluation within the first 1-2 years of life with regular monitoring of deformities. | D✓ | 4 | |
• If hand involvement is observed, the OT should perform a thorough hand evaluation that includes measurements of web space/finger length, range of motion (ROM), and hand function. (Additional file 1) | D✓ | 4 | |
• Regular monitoring of hand status should be provided. | D✓ | 4 | Expert opinion |
• OTs should provide home exercise programs to caregivers including daily active hand ROM exercises. This is particularly important for RDEB AND JEB subtypes. (Additional file 5) | D✓ | 4 | |
• For persons with EB who demonstrate the development of finger contractures and/or web creep, OT treatment intervention may include web preserving wrapping, individual finger wrapping, use of thermoplastic orthoses with or without silicone inserts, or silicone molds. See footnote★ (Additional file 6) | D✓ | 4 | |
d) Fine Motor Development and Fine Motor Retention: | |||
• OTs should provide standardized assessments and checklists for monitoring of fine motor skills for at risk patients (Additional file 2b). | D✓ | 4 | |
• Infant and child: OTs should provide treatment intervention to facilitate the development of age appropriate fine motor skills and support social integration and improve QoL. | D✓ | 3 | |
e) Oral Feeding Skills (See Disclaimer in Box 1) | |||
• OTs should work closely with other MDT members involved with feeding including a dietician/nutritionist and speech and language therapist regarding the patient’s feeding needs.(refer to disclaimer) | D✓ | 4 | Expert Opinion |
• OTs may work with patients with EB to promote confidence with eating different food textures. | D✓ | 3 | |
• OT treatment intervention should include oral motor exercises. | D✓ | 4 | [21] |
• OTs should encourage the social components of eating during mealtimes regardless of use of alternative feeding methods (Naso-gastric or gastrostomy feeding tube) for integration of the patient into daily life and promote QoL. | D✓ | 4 | [19] |
• Child: Consider role of previous complications causing food aversions such as constipation and acid reflux in patient’s feeding presentation | D✓ | 4 | [27] |
Infant: | |||
➢ OTs may provide assessment of feeding in new-borns and babies and advise on modifications. | D✓ | 4 | |
➢ OTs should recommend optimal positioning to facilitate feeding skills. | D✓ | 4 | Expert Opinion |
➢ OTs should provide recommendations and consultation for multisensory and psychosocial components to the function of eating. | D✓ | 4 | Expert Opinion |
Box 1. Disclaimer: In some countries OTs advise on feeding and swallowing skills. Review the practice act for the country of residence to ensure that this activity is within the scope of OT practice and if certification is required.
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Outcome | Number of allocated papers | Total participants with EB * | Methodologies | SIGN rate ref | Average quality rate % (range) | Benefits and limitations |
---|---|---|---|---|---|---|
Activities of Daily Living Relating to Self Care |
9
|
3496*
EBS 1856+ JEB 297+ DEB 486+ RDEB 505+ KS✓ | 2 NEBR 2 qualitative study 3 expert opinion ⇒1CG 1 consensus | 2-[8] 3[9] 3[10] 3[14] 4[11] 4[12] 4[13] 4[7] 4[15] |
48
(19-75) | Six articles did not specify EB subtype numbers. Two studies are based on NEBR database of 3280 subjects. This affected the total number of participants. Three articles are expert opinion based on limited literature review. One article states numbers of children 140 to adults 234 and another Male 11 to Female 13. |
Instrumental Activities of Daily Living |
5
|
115*
EBS 62+ JEB 8+ DEB 25+ RDEB 16+ | 1 qualitative study 1 quantitative study 1 systematic review 2 expert opinion | 3[10] 3[16] 1-[17]α 4[18] 4[19] |
55
(28-75) | Three articles did not specify EB subtype numbers. One was not specific to persons with EB. One states numbers of male 11 to female 13 participants. Two are expert opinion based on limited literature review. |
Maximization of Hand Function |
8
|
3351*
EBS 1700+ JEB 247+ DEB 437+ RDEB 457+ | 1 NEBR 5 expert opinion 1 consensus 1 cross sectional | 3[9] 4[11] 4[13] 4[20] 4[21] 4[15] 3[22] 4[23] |
41
(19-71) | Six articles did not specify EB subtype numbers. One study used a database of 3280 subjects. One qualitative questionnaire study was carries out in children age 2-18 years old and had 39 girls to 32 boys’ participants. Four articles are expert opinion based on limited literature review. |
Fine Motor Development and Fine Motor Retention |
5
|
3403*
EBS 1710+ JEB 247+ DEB 442+ RDEB 473+ | 1 NEBR 2 expert opinion 1 cross sectional 1 pilot study | 3[9] 4[11] 4[21] 3[22] |
54
(19-71) | Five articles did not specify EB subtype numbers. One study used the NEBR database (n=3280). One was a pilot study that has been recently validated, [25]β but published post appraisal stage. This study was carried out in children (16) and adults (15); age 1-50 years old and had 14 females to 17 male participants. Two are expert opinion based on limited literature review. |
Oral Feeding Skills |
5
| No values | 5 Expert opinion | 4[13] 4[21] 4[19] 4[26] 4[27] |
42
(28-53) | No articles specify EB subtype numbers. All articles were expert opinion, based on limited literature review. |
Recommendations
ADL relating to self-care (strength of recommendation Grade: D)
Referral and assessment
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➢ Many EB patients develop musculoskeletal contractures including the hands and feet leading to further impairments in their abilities to perform basic ADL such as dressing, grooming, and bathing.
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➢ Those with the more severe forms of EB such as persons with recessive DEB (RDEB) may have the greatest involvement and challenges, particularly if they spend prolonged periods in one position such as in a wheelchair.
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➢ The panel recognised the importance of a validated evaluation form to help standardise this process. An OT focused evaluation form was adapted by expert panel [7‐9] (Table 1a; Additional file 1). This evaluation form will be piloted with the final CPG. For other age appropriate assessments forms see Additional file 2a.
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➢ Modifications to promote greater independence in ADL need to be integrated and accepted into the patient and family environment.
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➢ OT consultation may include clothing choices or environmental modifications, adapting tools such as toothbrushes, and recommending equipment for bathing and toileting.
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Padding of bony prominences such as hips and elbows. An example is to use small kneepads as the baby begins to crawl. Baby sized kneepads or extra padding using dressings with tubular gauze to secure may be beneficial.
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Recommending clothing made of easy to slide material such as silk and using loose fitting clothing with front openings.
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Using disposable diapers lined with soft material to avoid friction.
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Handling the infant without causing unnecessary trauma such as lifting with one hand beneath the baby’s bottom and one behind the neck instead of the axillae. Or sliding hands below the mattress or using the sheet to lift and carry the baby.
Working in partnership
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➢ Families of babies and toddlers with EB should be encouraged to allow their children to explore their environments, perform self-care, and participate in gross motor activities with efforts to minimize blister formation. This is important for the child’s overall development and learning to become more independent, although with greater activity, there may be more wounds. Encouraging independence, exploration, and involvement with activities is a life-long skill that needs to begin early.
Instrumental ADL (strength of recommendation Grade: D)
Assessment and modifications
Working in partnership
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➢ As part of their assessment OT’s should evaluate, modify and support the patient, family and environmental factors to promote physical activity (PA). PA plan need to be in line with MDT and match the individual and family needs, developmental levels of the patient, and preferences.
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➢ OTs can advocate for and develop accessible and, flexible community based programs and consult with personnel who interact with the patient such as an employer, educator, or coach.
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➢ Child and adult: There are camp programs that are available to children with skin disorders including EB. Camp experiences can be a positive, and enriching experience. According to research, a positive outcome is that some of the campers report decreased feelings of isolation [18, 19] (Additional file 4).
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➢ The MDT may have local resources for opportunities for children and adults with EB. These activities should be encouraged.
Maximization of hand function (Strength of recommendation Grade: D)
Early assessment and monitoring
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➢ The first web space between the thumb and index finger is of the greatest importance for maintaining the ability to pinch, grasp and write and needs to be assessed.
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➢ A standardized assessment has not been validated for the EB population (Additional file 1)
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➢ Infant: OT must be started early in life in particular in generalized RDEB and JEB subtypes.
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➢ The continuing work of muscles and joints may delay contractures and deformities, improve functional mobility, enhance patient autonomy, and, ultimately, promote social inclusion.
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➢ We suggest consideration of various methods of finger wrapping. These include wrapping to address web creep, as a dressing for finger wounds, and with force toward finger extension [36].
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➢ The use of light, soft gloves that provide downward pressure between web spaces may be an adjunct or alternative to wrapping.
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➢ Static (preventative) and dynamic (corrective) orthoses may be beneficial [9, 11, 21, 23]. The static orthosis is to be used primarily at night and the dynamic for periods of time during waking hours. Due to potential for wound skin breakdown, all recommended orthoses need to be monitored for proper fit and function.
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➢ If the patient does not tolerate wrapping during the day, we suggest consideration of web preserving wrapping and/or use of an orthosis may be recommended to use at least at night.
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➢ If the patient does wrap during the day, we suggest consideration of periods of time when they are free of wrapping to encourage somatosensory input and freedom of movement.
Fine motor development and retention of Fine motor skills (Strength of recommendation Grade: D)
Assessment and monitoring
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➢ Research has found that better hand function was highly correlated with better reported quality of life for all of the subjects studied, with different types of EB.
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➢ OT recommendations may include modifications to improve the ability to perform fine motor tasks such as sheepskin used as modified grips, using soft ergonomic pens/pencils, and computers with a minimal touch mouse, touch screen, or speech recognition to be able to complete school work [11].
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➢ OTs should work with persons with EB who have fine motor challenges on tasks involving bilateral hands and manipulative skills such as opening jars, buttoning trousers/pants, zipping up and snapping a jacket, and opening bags and screw top lids [22].
Oral feeding skills (strength of recommendation Grade: D)
Scope of practice and working in partnership
When appropriate and in line with scope of practice
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➢ Trying to limit stressful and protracted mealtimes to improve QoL [27].
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➢ Encouraging older children to experiment with foods, providing individual guidance on suitable textures and taking into account food preferences. In some cases soft/pureed foods are encouraged; hot, acidic, spicy foods are discouraged [19].
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➢ Everyone is an individual.
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➢ Infant: OTs provide an assessment of feeding in new-borns and babies as needed and advice on appropriate modifications (Table 1e).
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Using a MDT approach, OTs can promote breast feeding with babies with EB, including lubricating the nipple, introduce solids with soft, smooth edged spoon (Additional file 3), and progress textures/tastes at the child’s pace (Box 1).
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If within the OT scope of practice, assess suck/swallow coordination for risk of aspiration (Box 1).
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A specialized bottle may be useful to minimize trauma to the gum margin and control the flow for feeding, so that even a weak suck will allow satisfactory flow (Additional file 3).
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Options to support eating solids may include use of soft shallow plastic spoon with rounded edges, parents’ fingertip, or from a piece of soft food. Foods containing lumps in liquid matrix are more difficult to control in the mouth and have the potential to increase negative feeding experiences. Force-feeding is counterproductive [26] and not recommended (Table 1d; Additional file 3).
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➢ For instance, the caregiver may be instructed in the use of synthetic sheepskin or a soft sheet as a barrier to transfer and hold the baby during feeding.
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➢ These may include having the person with EB join in family meal times to allow engagement in the social interaction, and enable them to see, smell, and take tastes of the food.
Conclusions
Further research
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Health Promoting Physical Activities, including Leisure and community activities, specific to EB population.
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Validity and Reliability of Standardized OT evaluation form for patients with EB.
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Effectiveness of hand orthoses and wrapping to improve hand function and fine motor skills.
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Effectiveness of modifications and adaptive equipment to promote functional independence.
Updating procedure
Implementation barriers
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Availability of resources (such as adaptive aides and hand orthoses)
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Limited and uneven distribution of knowledge and expertise.
Acknowledgements
Reviewer Panel List | |||
R BØ | Norway | Person living with EB | DEBRA Norway |
R Box | UK | EB Senior specialist OT for adults | GSTT, UK |
J Clark | UK | EB Speech & Language Therapist Adults | GSTT, UK |
R Cornwall | USA | EB MD Consultant for paediatrics | Cincinnati, USA |
J Finnigan | New Zealand | EB Clinical Nurse Specialist (CNS) | DEBRA New Zealand |
E Huber | Austria | EB Specialist OT paediatric | Austria |
N Jessop | UK | EB Senior specialist OT paediatric | GOSH, UK |
A Martinez | UK | EB MD Consultant for paediatrics | GOSH, UK |
C Miller | UK | EB Specialist OT paediatric | GOSH, UK |
S Morrill | USA | Person living with EB | USA |
F Prinz | Austria | OT EB hand therapist | Austria |
R Jones | UK | EB Specialist paediatric dietitian | Birmingham, UK |
H Weiß | Austria | EB Senior specialist paediatric OT | Austria |
M Wood | UK | EB Paediatric physiotherapist specialised | GOSH, UK |