Table 1.
Demographic and clinical characteristics of naive SMA subjects (total n = 48) enrolled in the study.
| Control (n = 4) | SMA1 (n = 18) | SMA2 (n = 19) | SMA3 (n = 11) | |
|---|---|---|---|---|
| Median [Min; Max) | Median [Min; Max) | Median [Min; Max) | Median [Min; Max) | |
| Sex (n) | 3F/1M | 11F/7M | 12F/7M | 11F/0M |
| Age (Years) | 7.5 [2.5;12] | 3.0 [0.1;7.7] | 5.4 [0.9;13.3] | 12.6 [2.2;17.9] |
| BMI | 13.5 [11.5;18.5] | 17.5 [10.6;28.9] (n = 17) | 19.7 [10.7;26.5] (n = 10) | |
| SMN2 copy (2/3/4) | – | 17/1/0 | 2/17/0 | 2/7/2 |
| CHOP-INTEND | – | 7.5 [0;52] | – | – |
| HFMSE | – | – | 9 [2;41] | 45 [15;62] |
| Gastrostomy (n) | – | 4 No/14 Yes | 19 No/0 Yes | 11 No/0 Yes |
| NIV (n) | – | 12 No/6 Yes | 12 No/7 Yes | 10 No/1 Yes |
| Tracheostomy (n) | – | 10 No/8 Yes | 19 No/0 Yes | 11 No/0 Yes |
Values are expressed as median (min; max). For sex, gastrostomy, tracheostomy and NIV, number of subjects (n) is indicated. Statistical analyses were performed by Chi-square test or Mann–Whitney test.
BMI body max index, CHOP-INTEND Children’s Hospital Of Philadelphia Infant Test Of Neuromuscular Disorders, HFMSE Hammersmith Functional Motor Scale Expanded, NIV non-invasive ventilation.