Demographical characteristics of the two study populations: the derivation group and the validation group#
| Derivation group | Validation group | p-value | |||||
| Total | PCD-positive | PCD-negative | Total | PCD-positive | PCD-negative | ||
| Subjects | 641 | 75 | 566 | 157 | 80 | 77 | |
| Age at assessment years | 9 (0–79) | 6 (0–67) | 9 (0–79) | 3 (0–18) | 6 (0–17) | 2 (0–12) | <0.001 |
| Male | 283 (44) | 34 (45) | 249 (44) | 78 (50) | 38 (48) | 40 (52) | 0.211 |
| Gestational age months | 39±2.6 | 39.6±1.6 | 38.9±2.7 | 39±2.3 | 39±2.0 | 39±2.5 | 0.332 |
| Pre-term | 87 (14) | 7 (9) | 80 (14) | 17 (11) | 7 (9) | 10 (13) | 0.357 |
| Siblings with PCD | 27 (4) | 18 (24) | 9 (2) | 27 (17) | 24 (30) | 3 (4) | <0.001 |
| Other family with PCD | 10 (2) | 4 (5) | 6 (1) | 8 (5) | 7 (9) | 1 (1) | 0.007 |
| Consanguinity | 20 (3) | 12 (16) | 8 (1) | 38 (24) | 35 (44) | 3 (4) | <0.001 |
| Ethnicity | |||||||
| White | 482 (75) | 57 (76) | 425 (75) | 90 (57) | 31 (39) | 59 (77) | <0.001 |
| Other | 55 (9) | 17 (23) | 38 (7) | 57 (36) | 39 (49) | 18 (23) | <0.001 |
| Not stated | 104 (16) | 1 (1) | 103 (18) | 10 (7) | 10 (12) | 0 (0) | 0.002 |
Data are presented as n, median (range), mean±sd or n (%), unless otherwise stated. PCD: primary ciliary dyskinesia. #: missing values not presented.