Abstract
Primary immunodeficiency disorders (PIDs) are a heterogeneous group of more than 200 rare diseases. Timely diagnosis is of uttermost importance. Therefore, we aimed to develop a diagnostic questionnaire with computerized pattern-recognition in order to support physicians to identify suspicious patient histories. Standardized interviews were conducted with guardians of children with PID. The questionnaire based on parental observations was developed using Colaizzis' framework for content analysis. Answers from 64 PID patients and 62 controls were analyzed by data mining methods in order to make a diagnostic prediction. Performance was evaluated by k-fold stratified cross-validation. The diagnostic support tool achieved a diagnostic sensitivity of up to 98%. The analysis of 12 interviews revealed 26 main phenomena observed by parents in the pre-diagnostic period. The questions were systematically phrased and selected resulting in a 36-item questionnaire. This was answered by 126 patients with or without PID to evaluate prediction. Item analysis revealed significant questions. Our approach proved suitable for recognizing patterns and thus differentiates between observations of PID patients and control groups. These findings provide the basis for developing a tool supporting physicians to consider a PID with a questionnaire. These data support the notion that patient's experience is a cornerstone in the diagnostic process.
Highlights
Primary immunodeficiency disorders (PIDs) are a heterogeneous group of more than 200 rare diseases
Interviewers used a guideline for standardized procedure and a uniform beginning
The diagnosis of PID presents a challenge to pediatricians due to rare incidence and unspecific symptoms, resulting in delayed referral and negative outcome for patients and parents [3, 4]
Summary
Primary immunodeficiency disorders (PIDs) are a heterogeneous group of more than 200 rare diseases. Primary immunodeficiency disorders (PIDs) in children are a group of more than 200 rare diseases presenting a wide spectrum of symptoms [1, 2]. Subbarayan et al [11] state that existing tools do not work sufficiently and new approaches are requested [12] In this regard, patient’s medical histories offer clues for considering a PID. Previous studies have emphasized the importance of medical history taking as approximately 80% of the diagnoses could be established by careful history taking only [13, 14]. These studies do not focus on PID. The question of how to decide which patient should receive further investigation gains supreme significance
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