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

scholarly journals Respiratory trajectories in type 2 and non-ambulant 3 Spinal muscular atrophy in the iSMAC cohort study

Neurology ◽  
2020 ◽  
pp. 10.1212/WNL.0000000000011051
Author(s):  
Federica Trucco ◽  
Deborah Ridout ◽  
Mariacristina Scoto ◽  
Giorgia Coratti ◽  
Marion L Main ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Function ◽  
Muscular Atrophy ◽  
Non Invasive ◽  
Non Invasive Ventilation ◽  
Paediatric Cohort ◽  
New Treatments ◽  
Type 3

Objective.To describe the respiratory trajectories and their correlation with motor function in an international paediatric cohort of patients with type 2 and non-ambulant type 3 spinal muscular atrophy (SMA).Methods.Eight-year retrospective observational study of patients in the iSMAc natural history study. We retrieved anthropometrics, forced vital capacity (FVC) absolute, FVC% predicted (FVC%P.), Non-Invasive ventilation (NIV) requirement. Hammersmith functional motor scale (HFMS) and Revised performance of upper limb (RULM) were correlated with respiratory function. We excluded patients in interventional clinical trials and on Nusinersen commercial therapy.Results.There were 437 patients with SMA: 348 type 2, 89 non-ambulant type 3. Mean age at first visit was 6.9(±4.4) and 11.1(±4) years. In SMA type 2 FVC%P declined by 4.2%/year from 5 to 13 years, followed by a slower decline (1.0%/year). In type 3 FVC%P declined by 6.3%/year between 8 and 13 years, followed by a slower decline (0.9%/year). 39% SMA type 2 and 9% type 3 required NIV at median age 5.0(1.8-16.6) and 15.1(13.8-16.3) years. 84% SMA type 2 and 80% type 3 had scoliosis, 54% and 46% required surgery, which did not significantly affect respiratory decline. FVC%P positively correlated with HFMS and RULM in both subtypes.Conclusions.In SMA type 2 and non-ambulant type 3 lung function declines differently, with a common levelling after age 13 years. Lung and motor function correlated in both subtypes. Our data further defines the milder SMA phenotypes and provides novel information to benchmark the long-term efficacy of new treatments for SMA.

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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