| Shrnutí: | <p><strong>Aim</strong>
To determine factors associated with acquisition of a sitting position in patients with spinal muscular atrophy type 1 (SMA1) treated with nusinersen.</p>
<p><strong>Method</strong>
Using data from the registry of patients with SMA1 treated with nusinersen, we compared the subgroups of sitters and non‐sitters after 14 months of therapy as a function of baseline level, SMN2 copy number, age at treatment initiation, and improvement at 2 and 6 months post‐treatment initiation. We used Hammersmith Infant Neurological Examination, Section 2 (HINE‐2) and Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders for motor evaluation.</p>
<p><strong>Results</strong>
Fifty children (22 females, 28 males), mean age 22 months (SD 20.7; range 2.5–102.8mo) were treated. Data on sitting position acquisition were collected for 47 patients at month 14. Fifteen patients were able to sit unassisted; 11 of 15 had a baseline HINE‐2 score of at least 2 points and 11 of 14 had an improvement over baseline of at least 2 points at month 6. Patients who improved by 2 or more points at month 6 were three times more likely to be sitters at month 14 than those who did not.</p>
<p><strong>Interpretation</strong>
High baseline motor function and improvement in HINE‐2 score after 6 months of treatment are associated with the probability of acquiring a sitting position in patients with SMA1 treated with nusinersen.</p>
<p><strong>What this paper adds</strong>
Fifteen of 47 patients with spinal muscular atrophy could sit unaided 14 months after treatment with nusinersen.<br>
The number of SMN2 copies were not predictive of acquisition of a sitting position.<br>
Baseline condition and clinical response after 6 months of treatment were most predictive of sitting position acquisition.</p>
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