Common pre-diagnostic features in individuals with different rare diseases represent a key for diagnostic support with computerized pattern recognition?

ABSTRACT:

Background

Rare diseases (RD) result in a wide variety of clinical presentations, and this creates a significant diagnostic challenge for health care professionals. We hypothesized that there exist a set of consistent and shared phenomena among all individuals affected by (different) RD during the time before diagnosis is established.

Objective

We aimed to identify commonalities between different RD and developed a machine learning diagnostic support tool for RD.

Methods

20 interviews with affected individuals with different RD, focusing on the time period before their diagnosis, were performed and qualitatively analyzed. Out of these pre-diagnostic experiences, we distilled key phenomena and created a questionnaire which was then distributed among individuals with th

SUBMITTER: Grigull L 

PROVIDER: S-EPMC6786570 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature