Table 2.
Clinical outcome measures in patients with SMA type 1 treated with nusinersen
| SMA type 1b (n = 5) | SMA type 1c (n = 18) | |
|---|---|---|
| Follow-up in months | 41 (29–46) | 45.5 (19–52) |
| Number of injections | 13 (10–15) | 14 (7–16) |
| CHOP-INTEND score | 56 (23–58) | 40 (15–54) |
| △CHOP-INTEND score | 25 (12–39) | 8 (1–18) |
| HINE-2 score | 16 (15–19) | 4 (0–9) |
| △HINE-2 score | 15.5 (12–19) | 3.5 (0–9) |
| WHO motor milestone score | 1 (0–1) | 0 (0–1) |
| Use of ventilator support n (%) | ||
| None | 3 (60) | 4 (22) |
| Non-invasive ventilation | 2 (40) | 10 (56) |
| Hours of non-invasive ventilation | 13.5 (13–14) | 12 (11–13) |
| Invasive ventilation | 0 (0) | 4 (22) |
| Hours of invasive ventilation | n.a. | 12 (12–24) |
| Dependent on feeding tube n (%) | ||
| None | 1 (20)a | 4 (22) |
| Nasogastric tube | 0 (0) | 0 (0) |
| Gastrostomy | 4 (80) | 9 (50) |
SMA = spinal muscular atrophy; n = number; CHOP-INTEND = Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders; △CHOP-INTEND = difference in CHOP-INTEND score between baseline and last follow-up assessment; HINE-2= Hammersmith Infant Neurological Examination-2; △HINE-2 = difference in HINE-2 score between baseline and last follow-up assessment; WHO = World Health Organization.
Outcomes present the data of last follow-up assessment, unless otherwise stated. All outcomes are given in median (range) unless otherwise stated.
a
Swallow examination shows silent aspiration, parents refused feeding tube.