Patient's Experience in Pediatric Primary Immunodeficiency Disorders: Computerized Classification of Questionnaires

Area of Science:

• Immunology
• Medical Informatics

Background:

• Primary immunodeficiency disorders (PIDs) encompass over 200 rare diseases requiring timely diagnosis.
• Physician support in identifying potential PID cases is crucial for early intervention.

Purpose of the Study:

• To develop a diagnostic questionnaire utilizing computerized pattern-recognition.
• To create a tool that assists physicians in identifying patients with suspicious medical histories indicative of PIDs.

Main Methods:

• A 36-item questionnaire was developed based on parental observations from interviews with PID patients and controls.
• Data mining techniques and k-fold cross-validation were employed to analyze responses from 64 PID patients and 62 controls.
• Phenomena observed by parents during the pre-diagnostic period were systematically analyzed.

Main Results:

• The diagnostic support tool demonstrated a sensitivity of up to 98%.
• Analysis identified 26 key phenomena reported by parents in the pre-diagnostic phase.
• Significant questions were identified through item analysis, differentiating PID patients from controls.

Conclusions:

• The developed approach effectively recognizes patterns to distinguish between PID patients and control groups.
• The findings support the creation of a physician-advisory tool for PID consideration.
• Patient and guardian experiences are vital components in the diagnostic pathway for PIDs.