Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines

K. Martin†Email author View ORCID ID profile,
S. Geuens†,
J. K. Asche,
R. Bodan,
F. Browne,
A. Downe,
N. García García,
G. Jaega,
B. Kennedy,
P. J. Mauritz,
F. Pérez,
K. Soon,
V. Zmazek and
K. M. Mayre-Chilton

†Contributed equally

Orphanet Journal of Rare Diseases201914:133

https://doi.org/10.1186/s13023-019-1086-5

Received: 11 December 2018
Accepted: 1 May 2019
Published: 11 June 2019

Abstract

Epidermolysis Bullosa (EB) is a group of rare genetic disorders resulting in skin fragility and other symptoms. Commissioned by DEBRA International and funded by DEBRA Norway, this evidence-bases guideline provides recommendations to optimise psychosocial wellbeing in EB.

An international multidisciplinary panel of social and health care professionals (HCP) and people living with EB was formed. A systematic international literature review was conducted by the panel following the Scottish Intercollegiate Guidelines Network (SIGN) methodology. The resulting papers underwent systematic selection and critique processes. Included papers were allocated to 6 different outcome groups to allow data synthesis and exploration: quality of life, coping, family, wellbeing, access to HCP and pain. Based on the evidence in those papers, recommendations were made for individuals living with EB, family and caregivers and HCP working in the field.

Few studies have investigated interventions and which factors lead to better outcomes, but general recommendations can be made. EB is a complex disease impacting enormously on every aspect of psychosocial life. People and families living with EB need access to multidisciplinary support, including psychological guidance, in order to improve quality of life and psychosocial wellbeing. Interventions should stimulate social participation to prevent isolation. People with EB and their families should be able to access a supportive network. HCP should be well supported and educated about the complexity of EB. They should work collaboratively with those around the individual with EB (e.g. schools, employers etc.) to provide psychosocial opportunity and care.

Attention should be paid to the psychosocial impact of EB as well as physical needs. Directions for research are indicated.