Characteristics | Total patients (n=140) | Genetic lung disease (n=23) | Genetic disease with lung involvement (n=117) | P value* |
Respiratory symptom onset age (boys) | 7 months | 5 months | 7.3 months | 0.682 |
Enrolment age (boys) | 3.6 years | 4.9 years | 3.4 years | 0.355 |
Molecular diagnostic age | 3.8 years | 5.1 years | 3.5 years | 0.426 |
ICU hospitalisation, no (%) | 53 (37.9) | 8 (34.8) | 45 (38.5) | 0.739 |
Invasive respiratory support, no (%) | 34 (24.3) | 5 (21.7) | 29 (24.8) | 0.755 |
Family history, no (%) | 22 (15.7) | 1 (4.3) | 21 (17.9) | 0.185 |
Management changes, no (%)† | 72 (51.4) | 19 (82.6) | 53 (45.3) | 0.001 |
Otherwise actionable medical measures, no (%)‡ | 38 (27.1) | 3 (13) | 35 (29.9) | NA |
Deceased, no (%)§ | 47 (33.6) | 6 (26.1) | 41 (35) | 0.406 |
*Pearson’s Χ2 test, Fisher’s exact test or Mann-Whitney U test, when applicable.
†Indicates redirection of care, initiation of new subspecialist care, changes in medication or diet, major procedures and diagnosis-explained death.
‡Indicates patients who have not yet received management change but might do so in theory after molecular diagnosis.
§Death in hospitalisation or within 1 month from discharge.
ICU, intensive care unit; NA, not applicable.