A study recently published in the journal PLoS One reported on the effectiveness of a new diagnostic tool for detecting pulmonary diseases in children, including cystic fibrosis (CF). The study was led by researchers at the Hanover Medical School in Germany and is entitled “Diagnostic Support for Selected Paediatric Pulmonary Diseases Using Answer-Pattern Recognition in Questionnaires Based on Combined Data Mining Applications-A Monocentric Observational Pilot Study.”
Recognizing specific pulmonary diseases in children can be challenging as the clinical symptoms are often non-specific. Rare diseases can therefore be missed by pediatricians. This is the case in CF, a life-threatening genetic disease in which a defective gene (CFTR) induces a salt imbalance, causing the body to form unusually thick, sticky mucus that can obstruct the airways and promote dangerous lung infections, resulting in serious respiratory and also gastrointestinal manifestations.
Researchers have now developed a novel diagnostic tool to help clinicians in the management and treatment of children with pulmonary complaints. The computerized tool was developed using data mining and is based on a questionnaire. The research team interviewed the parents of affected children and developed a questionnaire based on the parental observations, encompassing 45 specific questions. Then, parents of children with pulmonary conditions completed the questionnaire and, based on the collected data, the team developed a computer program able to categorize the parent’s answers and provide a diagnosis.
Researchers reported that the new diagnostic tool was able to accurately diagnose six different pulmonary disorders in children including CF, asthma, acute bronchitis, primary ciliary dyskinesia, protracted bacterial bronchitis and pneumonia. The overall accuracy of the tool ranged between 91 and 99%.
The research team concluded in this proof of concept study that the questionnaire-based diagnostic support tool can offer an accurate diagnosis of specific pulmonary diseases in children. Researchers suggest that this diagnostic tool could be easily applied by the clinician potentially increasing awareness for certain rare pulmonary diseases like CF and help provide a proper, timely diagnosis.
The questionnaire is currently available in German, English and Chinese languages. The team suggests that further studies should be conducted to evaluate whether the accuracy of their diagnostic tool is different in other cultures. The authors are also planning to include additional diagnoses to their panel of pulmonary diseases recognized by the program.