Patient-reported outcome (PRO) assessment for pediatric populations is complex. Potential variations in cognitive development and disease impact/treatment across a wide age range present challenges for PRO assessment. Epidermolysis bullosa (EB) is a rare, incurable genetic skin disorder primarily affecting children. Common clinical manifestations are skin blistering and chronic wounds. Children with EB and their families face numerous health-related quality of life (HRQOL) issues.
OBJECTIVES: To identify and evaluate HRQOL measures for use with children (aged _3 years) with EB.
METHODS: A structured PubMed search was conducted using Medical Subject Heading search terms. Of the 143 abstracts identified, 40 were appropriate for further evaluation; 33 articles underwent full-text review. Content validity and other psychometric properties of identified HRQOL measures were evaluated based on US and European PRO/HRQOL guidance criteria.
RESULTS: The review identified 8 HRQOL measures used with EB patients: 3 generic (SF-36; EQ-5D, EQ-5DY); 4 dermatology-specific (DLQI, CDLQI, DQOLS, Skindex); and 1 EBspecific (QOLEB). Only the CDLQI and QOLEB were specifically designed for pediatric populations (ages 4-16 and _10 years, respectively). The QOLEB was the only instrument for which content was derived from EB patients; 26 patient interviews were conducted, of which 9 were with patients _18 years. Despite pediatric input during development, not all QOLEB content is relevant to children/adolescents; items assessing family and financial impact are not appropriate for these respondents. Psychometric properties have been established among pediatric EB patients only for the QOLEB (convergent validity [DLQI: R _ 0.774]; internal consistency [_ _ 0.931]; test-retest reliability [R _ 0.843]).
CONCLUSIONS: Few published measures meet current regulatory standards for HRQOL evaluation in pediatric EB patients. Given the age range for EB, an HRQOL instrument that evaluates age-appropriate concepts was not identified. Further research is needed to document and assess HRQOL concepts in pediatric patients with EB.
