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