Table 1 Cohort characteristics
LUMC n = 74 | UF n = 79 | |
|---|---|---|
Samples, n | 405 | 288 |
Age at first sample, years, mean (SD) | 8.4 (3.4) | 10.9 (3.2) |
Follow-up duration, years, mean (SD) | 5.7 (3.6) | 3.4 (2.5) |
Samples per patient, n, mean (SD) | 5.5 (2.9) | 3.6 (2.0) |
Age at start of corticosteroids, years, mean (SD) | 5.6 (1.6) | 5.4 (1.7) |
Corticosteroid treatment at first sample, n (%) | ||
• Not recorded | 1 (1.4%) | 3 (3.8%) |
• Daily | 2 (2.7%) | 66 (83.5%) |
• Intermittent | 49 (66.2%) | 4 (5.1%) |
• None | 22 (29.7%) | 6 (7.6%) |
Dystrophin variants, n (%) | ||
• Exonic deletion | 49 (66.2%) | 49 (62.0%) |
• Exonic duplication | 10 (13.5%) | 8 (10.1%) |
• Nonsense variant | 13 (17.6%) | 12 (15.2%) |
• Splice site variant | 2 (2.7%) | 3 (3.8%) |
• Other small point variants | — | 5 (6.3%) |
• Variant unknown | — | 2 (2.5%) |
Weight at first sample, kg, mean (SD) | 32.6 (18.6) | 35.1 (12.2) |
Height at first sample, cm, mean (SD) | 127.2 (19.2) | 126.9 (10.7) |
BMI at first sample, mean (SD) | 18.3 (4.4) | 21.2 (5.4) |
Ambulant patients at first sample, n (%) | 59 (79.7%) | 68/78 (87.2%) (1 unknown) |
Able to perform overhead reach at first sample, n (%) | 64 (86.5%) | 63/70 (90.0%) (9 unknown) |
Able to perform hand to mouth at first sample, n (%) | 73 (98.6%) | 74/75 (98.7%) (4 unknown) |
