Incontinentia pigmenti burden scale: designing a family burden questionnaire

Orphanet Journal of Rare Diseases 14, Article number: 271 (2019) Cite this article

Abstract

Background

Incontentia pigmenti (IP) is a rare multisystem disorder of ectodermal origin comprising skin, dental, ocular and central nervous system features. Symptomatic treatments are adapted to each family according to the patient’s disability. Due to its rarity, the family IP burden in its broadest sense (psychological, social, economic and physical) has not yet been evaluated.

Aim

To design a questionnaire allowing assessing the family burden of IP (F’BoIP).

Method

A questionnaire was developed using a standardized methodology for designing quality of life questionnaires according to the following steps: conception, development, and validation. A multidisciplinary working group was designed, including experts in questionnaire development, dermatologists specialised in IP patient care and representatives of the French IP association. A cultural and linguistic validation into US English was conducted, based on the original French version.

Results

A 20-item conceptual questionnaire was generated. Subsequent confirmatory analyses produced a 20-item questionnaire grouped into four domains, demonstrating internal consistency (Cronbach’s alpha: 0.93), reproducibility and high reliability. The F’BoIP questionnaire significantly correlated with other validated questionnaires: Family Dermatology Life Quality Index (F-DLQI), Perceived Stress Scale (PSS) and SF-12 mental and SF12 physical scores, indicating good external validity.

Conclusion

The F’BoIP questionnaire is the first specific tool to assess the family burden of IP and can be used by both family members of IP patients and by health care professionals. It is a valuable tool which evaluates medical and nonmedical strategies to improve the daily life of families affected by this orphan disease.