Longitudinal study of the activities of daily living and quality of life in Japanese patients with fibrodysplasia ossificans progressiva

Abstract

Purpose: Fibrodysplasia ossificans progressiva is a rare congenital disorder that causes systemic heterotopic ossification, leading to systemic ankyloses and mobility losses. This study aimed to ascertain the natural history of fibrodysplasia ossificans progressiva.

Methods: In addition to the medical history questionnaire, patients aged 16 years and older were asked to complete activities of daily living and quality of life surveys using the Barthel Index, MOS 36-Item Short-Form Health Survey, and Health Assessment Questionnaire. The surveys were conducted over a 4-years period.

Results: Of the 15 participating patients, 13 reported swelling during the study period. The Barthel Index and Health Assessment Questionnaire surveys indicated a tendency for questionnaire items related to arm function to reflect early decreases in the activities of daily living. Decreases in activities of daily living functioning were closely related to decreases in the quality of life in physical function domains. Activities of daily living and quality of life were maintained at a similar level to baseline values over the study period (Barthel Index: p = 0.42, MOS 36-Item Short-Form Health Survey: p = 0.43, Health Assessment Questionnaire: p = 0.87).

Conclusions: We obtained longitudinal information relating to natural history on fibrodysplasia ossificans progressiva patients.

Implications for rehabilitation

• Fibrodysplasia ossificans progressiva is a rare congenital disease that causes heterotopic ossification of muscle tissue throughout the body, leading to systemic ankyloses and mobility losses.

• When the Barthel Index was high and the activities of daily living were relatively stable, the items on the Health Assessment Questionnaire that are related to arm function began to show impairment.

• Early focus on upper extremity function that includes the use of assistive devices during the period when a patient is still able to perform many activities of daily living is important.

• Although decreases in activities of daily living functioning were closely related to decreases in the quality of life in the physical function domains, the scores of the domains other than physical function were similar to the national standard score.

Keywords:

• fibrodysplasia ossificans progressiva
• activities of daily living
• quality of life
• natural history
• longitudinal study
• functional disability

Disclosure statement

The authors report no conflicts of interest.

Additional information

Funding

This study was supported in part by the Health and Labor Sciences Research Grants for Research on Measures for Intractable Diseases from the Ministry of Health, Labor and Welfare of Japan, and the Research on Development of New Drugs from Japan Agency for Medical Research and Development, AMED.