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. 2020 Mar;62(3):310-314.
doi: 10.1111/dmcn.14412. Epub 2019 Dec 4.

Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen

Karolina Aragon-Gawinska  1   2 , Aurore Daron  3 , Ana Ulinici  3 , Laura Vanden Brande  1 , Andreea Seferian  1 , Teresa Gidaro  1 , Mariacristina Scoto  4 , Nicolas Deconinck  5   6 , Laurent Servais  1   3 ; SMA-Registry Study Group
Collaborators, Affiliations
Free article

Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen

Karolina Aragon-Gawinska et al. Dev Med Child Neurol. 2020 Mar.
Free article

Abstract

Aim: To determine factors associated with acquisition of a sitting position in patients with spinal muscular atrophy type 1 (SMA1) treated with nusinersen.

Method: 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.

Results: 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.

Interpretation: 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.

What this paper adds: Fifteen of 47 patients with spinal muscular atrophy could sit unaided 14 months after treatment with nusinersen. The number of SMN2 copies were not predictive of acquisition of a sitting position. Baseline condition and clinical response after 6 months of treatment were most predictive of sitting position acquisition.

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References

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