TABLE 2.
Age at testing, time taken to receive test results and number of visits to doctor before referral stratified by primary ciliary dyskinesia (PCD) status for survey participants
| Total | PCD disease status | ||||
| Positive | Negative | Inconclusive | Other# | ||
| Subjects | 365 (100) | 271 (74.3) | 18 (4.9) | 29 (8.0) | 47 (12.9) |
| Age at initial testing years¶ | |||||
| <1 | 42 (11.5) | 30 (11.1) | 4 (13.8) | 8 (17.0) | |
| ≥1 | 279 (76.4) | 229 (84.5) | 14 (77.8) | 20 (69.0) | 16 (34.0) |
| Missing | 44 (12.1) | 12 (4.4) | 4 (22.2) | 5 (17.2) | 23 (48.9) |
| Visits to doctor before diagnosis | |||||
| Referred soon after birth | 12 (3.3) | 9 (3.3) | 2 (6.9) | 1 (2.1) | |
| 1–10 | 64 (17.5) | 46 (17.0) | 6 (33.3) | 5 (17.3) | 7 (14.2) |
| 11–20 | 56 (15.3) | 45 (16.6) | 5 (27.8) | 3 (10.3) | 3 (6.4) |
| 21–40 | 68 (18.6) | 52 (19.2) | 4 (22.2) | 8 (27.6) | 4 (8.5) |
| >40 | 123 (33.7) | 101 (37.3) | 1 (5.6) | 8 (27.6) | 13 (27.7) |
| Other | 22 (6.03) | 13 (4.8) | 1 (5.6) | 3 (10.3) | 5 (10.6) |
| Time to diagnosis after testing for PCD | |||||
| <1 week | 45 (12.3) | 39 (14.4) | 1 (5.6) | 1 (3.5) | 4 (8.5) |
| 1–4 weeks | 76 (20.8) | 61 (22.5) | 8 (44.4) | 3 (10.3) | 4 (8.5) |
| 1–6 months | 122 (33.4) | 105 (38.8) | 8 (44.4) | 4 (13.8) | 5 (10.6) |
| 6–12 months | 10 (2.7) | 8 (3.0) | 1 (3.5) | 1 (2.1) | |
| >1 year | 28 (7.7) | 24 (8.9) | 1 (5.6) | 2 (6.9) | 1 (2.1) |
| Still waiting | 28 (7.7) | 15 (51.7) | 13 (27.7) | ||
| Not sure | 36 (9.9) | 31 (11.4) | 2 (6.9) | 3 (6.4) | |
| Missing | 20 (5.5) | 3 (1.1) | 1 (3.5) | 16 (34.0) | |
| Diagnostic procedures | |||||
| Nasal nitric oxide | 157 (43.0) | 110 (40.6) | 14 (77.8) | 17 (58.6) | 16 (34.0) |
| Nasal scraping | 283 (77.5) | 221 (81.6) | 16 (88.9) | 28 (96.6) | 18 (38.3) |
| Bronchoscopy | 134 (36.7) | 102 (37.6) | 6 (33.3) | 12 (41.4) | 14 (29.8) |
| Genetics | 134 (36.7) | 105 (38.8) | 1 (5.6) | 13 (44.8) | 15 (31.9) |
| Saccharine test | 19 (5.2) | 14 (5.2) | 1 (5.6) | 2 (6.9) | 2 (4.3) |
| Nuclear medicine scan (e.g. MRI and CT scans) | 25 (6.9) | 19 (7.0) | 2 (11.1) | 1 (3.5) | 3 (6.4) |
| Radiography or CT scan alone | 8 (2.2) | 2 (0.7) | 6 (12.8) | ||
| Symptoms only | 12 (3.3) | 6 (2.2) | 6 (12.8) | ||
Data are presented as n (%). MRI: magnetic resonance imaging; CT: computed tomography. #: other includes participants still waiting for results and those who received a false-positive result as well as missing value; ¶: median age (interquartile range) 6 (11) years (n=226).