Referral rates and diagnostic evaluation for primary ciliary dyskinesia in criteria eligible patients.

Objective: To determine if pediatric patients who have laterality defects and meet the diagnostic criteria for Primary Ciliary Dyskinesia (PCD) evaluation are being referred to and evaluated by pediatric pulmonologists. Subjects and methods: A retrospective chart review using the electronic medical record was conducted at Dallas Children’s Health for patients with laterality defects who met two or more of the PCD evaluation criteria: laterality defect, chronic daily cough, and chronic daily nasal congestion starting in infancy, and neonatal respiratory distress of unclear etiology requiring oxygen or positive pressure for 24 hours or longer. The referral rates to pediatric pulmonary, genetics, and whether patients were evaluated for PCD were determined. Results: The electronic medical record search for laterality defects identified 433 patients. Of these, 14 patients were excluded because they were found not to have a laterality defect, and 38 because they did not have enough data (birth history, onset, and or characteristics of cough) for analysis. Neonatal respiratory distress was excluded as a symptom for those patients with a known etiology for their respiratory distress. Of the 381 patients who met the criteria for analysis, 192 (50%) met only one criteria for PCD evaluation (laterality defect), and 50% met 2 or more of the criteria. Of the 84 patients who met the minimum 2 criteria for PCD evaluation, 45% were referred to pulmonary, 14% to genetics, and only 15% were evaluated for PCD. Of the 27 patients who met all 4 PCD criteria for evaluation, 96% were referred to pulmonary, 85% to genetics, and 85% were evaluated for PCD. Among the 381 patients studied, there were no significant differences in the referral rate by the patient’s demographics, including sex, race, ethnicity, and insurance type. The sensitivity of referrals increased with the number of PCD criteria. Conclusions: A substantial number of pediatric patients meeting the criteria for PCD evaluation with 2 PCD referral criteria are not referred to pediatric pulmonologists, and a larger number are not being evaluated for PCD. As expected, patients with 3 or 4 PCD referral criteria have a higher rate of referral to pulmonary than those meeting the required 2 criteria. Nonetheless, a substantial number of patients who meet all 4 criteria for evaluation are not being evaluated for PCD even when referred to pulmonary or genetics. This highlights the importance of PCD education and awareness efforts for Pediatric specialists and subspecialists, including pediatric pulmonologists.