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Pediatric Spinal Muscular Atrophy Patients Treated With Nusinersen: Experience From a Tertiary Referral Center in
Sibel Öz Yıldız1, Numan Bulut2, İpek Alemdaroğlu-Gürbüz2
1Hacettepe University Faculty of Medicine, Division of Pediatric Neurology, Department of Pediatrics, Ankara, Turkey.
Background:
To evaluate long-term outcomes (motor function, ventilation, nutrition, scoliosis, neurophysiological assessments) of pediatric spinal muscular atrophy (SMA) patients treated with nusinersen.
Methods:
Forty-six patients (19 girls, 27 boys; [SMA type 1 (n = 18), type 2 (n = 15), type 3 (n = 13)]) are included to this retrospective study.
Results:
Median baseline age of SMA type 1, 2, and 3 patients were 6.5 (1.0-123.0); 112.0 (50.0-178.0); 88.0 (31.0-190.0) months; median duration of treatment for type 1, 2, and 3 was 15.2 (6.1-47.4), 38.0 (9.0-44.8), 41.8 (6.6-44.7) months, respectively. Median baseline Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders score was 23.0 (0.0-38.0) points for type 1. Median baseline Hammersmith Functional Motor Scale Expanded score for type 2 and 3 was 4.0 (1.0-26.0) and 41.0 (17.0-62.0) points, respectively. At last assessment; 3 type 1 patients were able to walk with support; 3 patients with type 3 lost ability of independent walking; median Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders score was 41.0 (3.0-64.0) points for type 1, median Hammersmith Functional Motor Scale Expanded score was 8.0 (4.0-30.0) points for type 2, and 48.0 (28.0-64.0) points for type 3. There was an overall significant negative correlation between the age of onset of treatment and motor score in all SMA types (P < 0.001). Respiratory (n = 12) and feeding (n = 5) support, scoliosis (n = 33), cognitive involvement/language delay (n = 6), autistic features (n = 2), and epilepsy (n = 2) were additional features.
Conclusions:
This cohort represents a heterogeneous symptomatic SMA population treated with nusinersen. This real-life data echoes that early initiation of treatment positively affects outcome with gains in motor function and/or stabilization and highlights emerging cognitive involvement. There is a mismatch in outcome parameters, and multidisciplinary care plays an ever-important role in the era of disease-modifying treatments.
