Summary of reported clinical manifestations in studies included in the quantitative analysis
| Clinical manifestation | Sensitivity (95% CI) | Specificity (95% CI) |
| Neonatal manifestations | ||
| Neonatal chest symptoms | 0.75 (0.63–0.84) | 0.83 (0.79–0.84) |
| Neonatal rhinitis | 0.27 (0.17–0.38) | 0.94 (0.91–0.95) |
| Neonatal respiratory support | 0.41 (0.30–0.53) | 0.93 (0.90–0.95) |
| Neonatal unit admission | 0.61 (0.49–0.72) | 0.86 (0.83–0.89) |
| Upper respiratory manifestations after the post-natal period | ||
| Chronic rhinitis | 0.81 (0.70–0.89) | 0.43 (0.38–0.47) |
| Chronic serious otitis media | 0.57 (0.45–0.69) | 0.81(0.77–0.84) |
| Chronic acute otitis media | 0.33 (0.23–0.45) | 0.75 (0.71–0.79) |
| Hearing loss | 0.49 (0.38–0.61) | 0.84 (0.81–0.87) |
| Chronic ear perforation | 0.12 (0.06–0.22) | 0.91 (0.88–0.93) |
| Ear surgery | 0.32 (0.22–0.44) | 0.86 (0.82–0.88) |
| Chronic sinusitis | 0.28 (0.19–0.40) | 0.76 (0.72–0.79) |
| Lower respiratory manifestations after the post-natal period | ||
| Chronic wet cough | 0.93 (0.84–0.98) | 0.15 (0.12–0.18) |
| Recurrent wheeze | 0.48 (0.36–0.60) | 0.62 (0.57–0.65) |
| Previous pneumonia | 0.41 (0.30–0.53) | 0.65 (0.61–0.69) |
| Bronchiectasis | 0.29 (0.20–0.41) | 0.68 (0.64–0.72) |
| Other manifestations (various ages) | ||
| Situs anomalies# | 0.51 (0.46–0.56) | 0.94 (0.92–0.95) |
| Congenital heart disease | 0.08 (0.03–0.17) | 0.98 (0.97–0.99) |
| Developmental delay | 0.11 (0.05–0.20) | 0.94 (0.91–0.96) |
| Hydrocephalus | 0.01 (0.00–0.08) | 0.99 (0.98–1.00) |
| Subfertility¶ | 0.91 (0.57–1.00) | 0.82 (0.74–0.87) |
| Family history (any age) | ||
| Primary ciliary dyskinesia in siblings | 0.24 (0.15–0.35) | 0.98 (0.97–0.99) |
| Primary ciliary dyskinesia in extended family | 0.05 (0.02–0.14) | 0.99 (0.97–1.00) |
| Asthma | 0.16 (0.09–0.27) | 0.66 (0.62–0.70) |
| Bronchiectasis | 0.04 (0.01–0.12) | 0.96 (0.93–0.97) |
| Otitis media | 0.07 (0.02–0.16) | 0.89 (0.86–0.92) |
| Clinical scores | ||
| PICADAR score >5 | 0.90 (0.81–0.96) | 0.75 (0.70–0.80) |
All data from Behan et al. [10] (641 eligible referrals, 75 (12%) had primary ciliary dyskinesia). #: data on situs anomalies are from Behan et al. [10] and Shapiro et al. [11] (767 referrals); ¶: data on subfertility are from a subgroup of 152 referrals where 11 (7%) had primary ciliary dyskinesia.