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Occupational therapy for epidermolysis bullosa: clinical practice guidelines.

ABSTRACT: The purpose of this article is to summarize the Dystrophic Epidermolysis Bullosa Research Association (DEBRA) International evidence-based Clinical Practice Guidelines (CPGs) for the provision of occupational therapy (OT) for children and adults living with inherited epidermolysis bullosa (EB). This is a rare genetic disorder characterized by skin fragility leading to blister formation occurring spontaneously or following minor trauma. Current OT practice for persons with EB is based on anecdotal care, clinical expertise and trial and error with collaboration between caregiver and patient. Intervention based on research is needed to establish a foundation of knowledge to guide international practitioners to create and improve standards of care and to be able to work effectively with those living with the rare diagnosis of this condition.This CPG was created by an international panel with expertise working with persons with EB. The panel was made up of 11 members including OT's, a physiotherapist, a medical doctor, social worker, person with EB and a carer of a person with EB. It describes the development of recommendations for 5 outcomes determined by survey of persons with EB, caregivers, and experienced healthcare professionals. The outcomes include independence in activities of daily living (ADL), independence in instrumental ADL, maximization of hand function (non-surgical), fine motor development and retention, and oral feeding skills. The recommendations are supplemented with additional files that include photos and specific examples to further guide occupational therapists or, in situations where an OT is not available, other members of the healthcare team.As the disorder of EB is rare, evidence-based CPGs are needed to provide a base of knowledge and practice for OTs throughout the world with the goal of providing quality care to patients, while improving their functional independence and quality of life. In addition, this information is valuable as a basis for further research.

SUBMITTER: Chan JM

PROVIDER: S-EPMC6556021 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature

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Occupational therapy for epidermolysis bullosa: clinical practice guidelines.

Chan Jennifer M JM Weisman Amy A King Alex A Maksomski Susan S Shotwell Carrissa C Bailie Claire C Weaver Helen H Bodan Rebecca R Guerrero Estrella E Zmazek Matija M Khuu Phuong P

Orphanet journal of rare diseases 20190607 1

The purpose of this article is to summarize the Dystrophic Epidermolysis Bullosa Research Association (DEBRA) International evidence-based Clinical Practice Guidelines (CPGs) for the provision of occupational therapy (OT) for children and adults living with inherited epidermolysis bullosa (EB). This is a rare genetic disorder characterized by skin fragility leading to blister formation occurring spontaneously or following minor trauma. Current OT practice for persons with EB is based on anecdota ...[more]

PMID: 31174559

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Project description:Epidermolysis bullosa (EB) is characterized by skin fragility with blister formation occurring spontaneously or following minor trauma such as gentle pressure or friction. Current physiotherapy practice is based on anecdotal care, clinical expertise and creative problem solving with caregivers and individuals with EB. Evidence based intervention is needed to establish a foundation of knowledge and to guide international practitioners to create and improve standards of care to effectively work with individuals living with EB. This clinical practice guideline (CPG) was created for the purpose of providing evidence based interventions and best clinical practices for the physiotherapy management of individuals with EB. A survey was conducted within the EB community and six outcomes were identified as a priority to address in physiotherapy management, including (1) attaining developmental motor milestones, (2) identifying safe and functional mobility in the natural environment, (3) encouraging ambulation endurance, (4) supporting safe ability to bear weight, (5) improving access to physiotherapy services, and (6) optimizing interaction with the community. A systematic literature review was conducted and articles were critically analyzed by an international panel consisting of thirteen members: healthcare professionals (including physiotherapist, doctors, and occupational therapist), caregivers, and individuals with EB. Recommendations were formulated from evidence and panel consensus. An external panel of twelve were invited to improve the quality and gather feedback on draft manuscript and recommendations. This CPG describes the development of recommendations for physiotherapy management including several best practice interventions. This guideline lays the foundational work for physiotherapist throughout the world to provide high quality services while improving and maintaining functional mobility and independence within the EB community. The CPG outlines limitations in the evidence available and possible future research needed to improve physiotherapy practice.

Project description:BackgroundInherited epidermolysis bullosa (EB) comprises a group of rare disorders that have multi-system effects and patients present with a number of both acute and chronic pain care needs. Effects on quality of life are substantial. Pain and itching are burdensome daily problems. Experience with, and knowledge of, the best pain and itch care for these patients is minimal. Evidence-based best care practice guidelines are needed to establish a base of knowledge and practice for practitioners of many disciplines to improve the quality of life for both adult and pediatric patients with EB.MethodsThe process was begun at the request of Dystrophic Epidermolysis Bullosa Research Association International (DEBRA International), an organization dedicated to improvement of care, research and dissemination of knowledge for EB patients worldwide. An international panel of experts in pain and palliative care who have extensive experience caring for patients with EB was assembled. Literature was reviewed and systematically evaluated. For areas of care without direct evidence, clinically relevant literature was assessed, and rounds of consensus building were conducted. The process involved a face-to-face consensus meeting that involved a family representative and methodologist, as well as the panel of clinical experts. During development, EB family input was obtained and the document was reviewed by a wide variety of experts representing several disciplines related to the care of patients with EB.ResultsThe first evidence-based care guidelines for the care of pain in EB were produced. The guidelines are clinically relevant for care of patients of all subtypes and ages, and apply to practitioners of all disciplines involved in the care of patients with EB. When the evidence suggests that the diagnosis or treatment of painful conditions differs between adults and children, it will be so noted.ConclusionsEvidence-based care guidelines are a means of standardizing optimal care for EB patients, whose disease is often times horrific in its effects on quality of life, and whose care is resource-intensive and difficult. The guideline development process also highlighted areas for research in order to improve further the evidence base for future care.

Project description:BACKGROUNDRecessive dystrophic epidermolysis bullosa (RDEB) patients have mutations in the COL7A1 gene and thus lack functional type VII collagen (C7) protein; they have marked skin fragility and blistering. This single-center phase 1/2a open-label study evaluated the long-term efficacy, safety, and patient-reported outcomes in RDEB patients treated with gene-corrected autologous cell therapy.METHODSAutologous keratinocytes were isolated from participant skin biopsies. Epidermal sheets were prepared from cells transduced with a retrovirus carrying the full-length human COL7A1 gene. These gene-corrected autologous epidermal sheets measured 5 × 7 cm (35 cm2) and were transplanted onto 6 wound sites in each of 7 adult participants (n = 42 sites total) from 2013 to 2017. Participants were followed for 2 to 5 years.RESULTSNo participants experienced any serious related adverse events. Wound healing of 50% or greater by Investigator Global Assessment was present in 95% (36 of 38) of treated wounds versus 0% (0 of 6) of untreated control wounds at 6 months (P < 0.0001). At year 1, 68% (26 of 38) of treated wounds had 50% or greater healing compared with 17% (1 of 6) of control wounds (P = 0.025). At year 2, 71% (27 of 38) of treated wounds had 50% or greater healing compared with 17% (1 of 6) of control wounds (P = 0.019).CONCLUSIONC7 expression persisted up to 2 years after treatment in 2 participants. Treated wounds with 50% or greater healing demonstrated improvement in patient-reported pain, itch, and wound durability. This study provides additional data to support the clinically meaningful benefit of treating chronic RDEB wounds with ex vivo, C7 gene-corrected autologous cell therapy. This approach was safe and promoted wound healing that was associated with improved patient-reported outcomes.TRIAL REGISTRATIONClinicaltrials.gov identifier: NCT01263379.FUNDINGEpidermolysis Bullosa Research Partnership, Epidermolysis Bullosa Medical Research Foundation, NIH R01 AR055914, Office of Research and Development at the Palo Alto Veteran's Affairs Medical Center, and the Dermatology Foundation.

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Occupational therapy for epidermolysis bullosa: clinical practice guidelines.

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Occupational therapy for epidermolysis bullosa: clinical practice guidelines.

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