scholarly journals Persistent Pseudomonas Aeruginosa infection associated with non-invasive ventilation in a child with spinal muscular atrophy type 1

2020 ◽  
Author(s):  
Archana Chacko ◽  
Peter D. Sly ◽  
Tim Kidd ◽  
Leanne Gauld
Keyword(s):  
Pseudomonas Aeruginosa ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Invasive Ventilation ◽  
Spinal Muscular Atrophy Type ◽  
Non Invasive ◽  
Non Invasive Ventilation ◽  
Pseudomonas Aeruginosa Infection

Effects of long-term non-invasive ventilation on sleep structure in children with Spinal Muscular Atrophy type 2

2019 ◽  
Vol 58 ◽  
pp. 82-87 ◽  
Author(s):  
Elisabetta Verrillo ◽  
Martino Pavone ◽  
Oliviero Bruni ◽  
Raffaele Ferri ◽  
Serena Caggiano ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Invasive Ventilation ◽  
Sleep Structure ◽  
Spinal Muscular Atrophy Type ◽  
Non Invasive ◽  
Non Invasive Ventilation

Clinical Outcomes in Patients with Spinal Muscular Atrophy Type 1 Treated with Nusinersen

2021 ◽  
pp. 1-8
Author(s):  
Rodrigo de Holanda Mendonça ◽  
Graziela Jorge Polido ◽  
Ciro Matsui ◽  
Davi Jorge Fontoura Solla ◽  
Umbertina Conti Reed ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Disease Duration ◽  
Muscular Atrophy ◽  
Ventilatory Support ◽  
Invasive Ventilation ◽  
Spinal Muscular Atrophy Type ◽  
Progressive Muscle Weakness ◽  
Predictors Of Response ◽  
The Mean

Background Spinal muscular atrophy type 1 (SMA1) is a motor neuron disease associated with progressive muscle weakness, ventilatory failure, and reduced survival. Objective: To report the evaluation of the nusinersen, an antisense oligonucleotide, on the motor function of SMA1. Methods This was a longitudinal and observational study to assess the outcomes of nusinersen therapy in SMA1 patients using the HINE-2 and CHOP-INTEND scales. Results Twenty-one SMA1 patients (52.4% males) were included; the mean age at first symptoms was 2.7 months (SD =±1.5), and the mean disease duration at first dose was 34.1 (SD =±36.0) months. During posttreatment, the mean gain on the CHOP-INTEND was 4.9, 5.9, 6.6, and 14 points after 6, 12, 18, and 24 months, respectively. Starting medication with a disease duration of less than 12 months and/or without invasive ventilation were predictors of response on CHOP-INTEND. Of the patients, 28.6% acquired a motor milestone or gained at least three points on the HINE-2. The daily time for ventilatory support was reduced after treatment in most of the patients with noninvasive ventilation at baseline. No change in the daytime use of ventilation was observed in most of the patients using invasive ventilation at baseline. Conclusions Nusinersen produces improvements in motor and respiratory functions, even in long-term SMA1 patients. However, patients under invasive ventilation at the beginning of the treatment experience little benefit.

Long‐term benefits of nusinersen in a child affected by cystic fibrosis and spinal muscular atrophy type 1

2021 ◽  
Author(s):  
Giorgia Bruno ◽  
Bernadette Donnarumma ◽  
Alessia Inverardi ◽  
Paolo Buonpensiero ◽  
Angela Sepe ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Spinal Muscular Atrophy Type
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