Knowledge of Rare Respiratory Diseases among Paediatricians and Medical School Students

Area of Science:

• Pulmonology
• Rare Diseases
• Medical Education

Background:

• Alpha-1-antitrypsin deficiency (AATD) and primary ciliary dyskinesia (PCD) are rare respiratory diseases often underdiagnosed.
• Diagnostic delays of 5-10 years negatively impact patient prognosis.
• Lack of awareness among healthcare professionals is a suspected cause.

Purpose of the Study:

• To assess the knowledge of AATD and PCD among pediatricians and medical students.
• To identify specific knowledge deficits in the diagnosis and treatment of these rare diseases.
• To inform educational strategies for improving rare respiratory disease awareness.

Main Methods:

• A survey was developed to evaluate fundamental knowledge of AATD and PCD diagnosis and treatment.
• Participants included pediatricians and medical students.
• A minimum score of 50% was set to indicate adequate knowledge.

Main Results:

• Profound lack of knowledge regarding AATD and PCD was observed in both pediatric professionals and medical students.
• Significant deficiencies were identified in understanding key diagnostic and treatment aspects.
• The study highlights a critical need for enhanced education on rare respiratory diseases.

Conclusions:

• Increased training in rare respiratory diseases is necessary for physicians involved in diagnosis.
• Early diagnosis and intervention can be facilitated by improved healthcare professional knowledge.
• Integrating rare respiratory disease content into medical curricula is a vital first step.