Table 1.
Baseline characteristics of study participants overall and stratified by ciliary ultrastructural defect
| Overall | ODA | ODA/IDA | IDA/CA/MTD | Normal EM | Isolated CA | Oligocilia* | |
|---|---|---|---|---|---|---|---|
| (n = 123) | (n = 51) | (n = 19) | (n = 34) | (n = 10) | (n = 5) | (n = 4) | |
| Male, n (%) | 58 (47.2%) | 24 (47.1%) | 12 (63.2%) | 15 (44.1%) | 3 (30.0%) | 1 (20.0%) | 3 (75.0%) |
| Age at enrollment, year, mean (SD) | 8.30 (4.55) | 9.37 (4.03) | 7.63 (5.72) | 6.85 (4.47) | 10.1 (3.90) | 9.20 (4.55) | 4.5 (1.91) |
| Age at diagnosis, year, mean (SD) | 4.24 (3.90) | 5.07 (4.48) | 3.39 (3.40) | 2.86 (3.12) | 5.75 (2.93) | 6.40 (3.29) | 2.88 (1.44) |
| FEV1pp at enrollment, mean (SD)† | 82.8 (19.4) | 88.2 (17.6) | 85.5 (21.4) | 71.0 (19.1) | 86.1 (16.4) | 80.9 (9.50) | NA |
| FEV1 z-score at enrollment, mean (SD)† | −1.46 (1.56) | −0.95 (1.45) | −1.35 (1.60) | −2.38 (1.50) | −1.18 (1.41) | −1.61 (0.79) | NA |
| Clinical features, n (%) | |||||||
| Laterality defect | 60 (48.8%) | 29 (56.9%) | 9 (47.4%) | 16 (47.1%) | 6 (60.0%) | 0 (0.0%) | 0 (0.0%) |
| Chronic nasal congestion | 120 (97.6%) | 50 (98.0%) | 18 (94.7%) | 33 (97.1%) | 10 (100%) | 5 (100%) | 4 (100%) |
| Chronic wet cough | 122 (99.2%) | 51 (100%) | 19 (100%) | 33 (97.1%) | 10 (100%) | 5 (100%) | 4 (100%) |
| Otitis media | 116 (94.3%) | 49 (96.1%) | 18 (94.7%) | 31 (91.2%) | 9 (90.0%) | 5 (100%) | 4 (100%) |
| Neonatal respiratory distress | 99 (80.5%) | 40 (78.4%) | 17 (89.5%) | 29 (85.3%) | 8 (80.0%) | 3 (60.0%) | 2 (50.0%) |
| Exposure variables, median (range) | |||||||
| neonatal-LOS, d, median (range) | 9 (1 to 90) | 8 (1 to 35) | 10 (1 to 21) | 11.5 (1 to 90) | 7 (1 to 14) | 10 (1 to 12) | 7.5 (1 to 17) |
| SuppO2, d, median (range) | 5 (0 to 180) | 5 (0 to 90) | 5 (0 to 180) | 8.5 (0 to 180) | 0 (0 to 10) | 0 (0 to 9) | 5 (0 to 180) |
Definition of abbreviations: CA = central apparatus; EM = electron microscopy; FEV1pp = forced expiratory volume in 1 second percent predicted; IDA = inner dynein arm; MTD = microtubular disorganization; NA = not applicable; neonatal-LOS = neonatal hospital length of stay in days since birth; ODA = outer dynein arm; SD = standard deviation; SuppO2 = supplemental oxygen duration in days since birth.
*
Oligocilia sample consisted of two identical twins and two siblings.
†
A total of 34 participants had missing FEV1pp at enrollment owing to the inability to perform an acceptable reproducible maneuver.