Table 1 Clinical characteristics of the sample
Clinically asymptomatic (N = 5) | Pauci-symptomatic (N = 1) | SMA I (N = 25) | Whole cohort (N = 31) | |
|---|---|---|---|---|
Age at enrollment | ||||
Mean (SD) | 3.67 (0.15) | 3.2 | 5.99 (1.96) | 5.70 (2) |
Median (min–max) | 3.67 (3.2–3.8) | 3.2 | 6.38 (2.26–9.08) | 5.90 (2.6–9) |
Sex assigned at birth | ||||
Female (N, %) | 2 (40%) | 0 (0%) | 15 (46%) | 17 (50%) |
Male (N, %) | 3 (60%) | 1 | 13 (54%) | 17 (50%) |
SMN2 copy number | ||||
2 (N, %) | 2 (40%) | 1 (100%) | 22 (88%) | 25 (80.6%) |
3 (N, %) | 2 (40%) | 0 (0%) | 3 (12%) | 5 (16.1%) |
4 (N, %) | 1 (20%) | 0 (0%) | 0 (0%) | 1 (3.2%) |
Age at DMT (years) | ||||
Mean (SD) | 0.35 (0.5) | 0.08 | 0.80 (0.95) | 0.93 (1.03) |
Median (min–max) | 0.05 (0.4–1.2) | 0.08 | 0.37 (0.05–3.45) | 0.49 (0.04–3.39) |
Social vulnerability index | ||||
Mean (SD) | 101 (0.7) | 101.3 | 102 (3.23) | 102 (2.93) |
Median (min–max) | 101 (101 -103) | 101.3 | 101.03 (99.1–111) | 101 (99.1–111) |
Parental education level | ||||
N | 1 MSD; 1 HSD; 3 UD | UD | 5 MSD; 10 HSD; 10 UD | 6 MSD; 11 HSD; 14 UD |
CHOP INTEND pre DMTs | ||||
Mean (SD) | 55.4 (5.08) | 50 | 24.7 (8.88) | 30.6 (14.6) |
Median (min–max) | 57 (50–60) | 50 | 24.5 (12–44) | 26.5 (12–60) |
CHOP INTEND at evaluation | ||||
Mean (SD) | 64 | 64 | 43.3 (11.0) | 47.3 (12.9) |
Median (min–max) | 64 (64–64) | 64 | 44 (16–64) | 48.0 (16–64) |
HFMSE at evaluation | ||||
Mean (SD) | 60.6 (3.29) | 50 | 16.7 (12.1) | 25.4 (20.5) |
Median (min–max) | 60 (57–64) | 50 | 13.0 (3–52.0) | 18 (3–64) |
