PT  - JOURNAL ARTICLE
AU  - Jana Djakow
AU  - Eva Rozehnalova
AU  - Magdalena Havlisova
AU  - Tamara Svobodova
AU  - Petr Pohunek
TI  - Clinical index to evaluate the risk of primary ciliary dyskinesia in children
DP  - 2012 Sep 01
TA  - European Respiratory Journal
PG  - 2844
VI  - 40
IP  - Suppl 56
4099  - http://erj.ersjournals.com/content/40/Suppl_56/2844.short
4100  - http://erj.ersjournals.com/content/40/Suppl_56/2844.full
SO  - Eur Respir J2012 Sep 01; 40
AB  - Introduction: Primary ciliary dyskinesia (PCD) is a rare genetic disorder causing a variety of symptoms. The diagnostics of PCD is challenging as the clinical presentation can differ in particular patients. Also the methods (as high-speed videomicroscopy or electron microscopy) to diagnose PCD are usually available only in specialized centres.Aim & objective: To find out if a simple clinical index can be used to differentiate the patients with high risk of PCD.Methods: All patients with PCD diagnosed in our clinic (n=31) and all patients sent to the diagnostic centre as suspected of PCD in 2009-2011 (n=352) were included into the study. We randomly divided the study group into 2 subgroups. The analysis subgroup was used for model preparation and hold-out group was used for subsequent cross-validization of the model. We measured quality of the test (model) by computing area under ROC curve (AUC) and discriminant validity by comparing total scores for group with or without PCD diagnosis.Results: The clinical index included 7 yes/no questions concerning the history and clinical symptoms. One point was assigned to each yes answer. AUC for analysis subsample was 0.94, AUC for hold-out subsample 0.89. Discriminant validity was measured in whole study group by non-parametric Mann-Whitney U-test: (U=555.5, Z=-7.08, p<0.0001).Conclusions: A simple clinical 7-item questionnaire can be used to evaluate the risk of PCD and to discriminate the patients that should be referred to diagnostic centre.