Background: Infantile hereditary proximal spinal muscular atrophy (SMA) type 1 is characterized by onset in the first 6 months of life and severe and progressive muscle weakness. Dysphagia is a common complication but has not been studied in detail. Objective: To study feeding and swallowing problems in infants with SMA type 1, and to explore the relation between these problems and functional motor scores. Methods: We prospectively included 16 infants with SMA type 1 between September 2016 and October 2018. Eleven infants received palliative care and five infants best supportive care in combination with nusinersen. We compiled and used an observation list with feeding related issues and observed feeding sessions during inpatient and outpatient visits. The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) was used as a measure of motor function. Results: All infants in the palliative care group (median onset of disease 14 days (range 1–56); median inclusion in the study 52 days (range 16–252) demonstrated symptoms of fatigue during feeding and unsafe swallowing. Symptoms were short nursing sessions (10–15 minutes), and not being able to finish the recommended feeding volumes (72%); increased frequency of feeding sessions (55%); coughing when drinking or eating (91%), and wet breathing during and after feeding (64%).Two out of five infants in the nusinersen group (median onset of disease 38 days (range 21–90); inclusion in the study at 63 days (range 3–218) were clinically pre-symptomatic at the start of treatment. The other three infants showed symptoms of fatigue and unsafe swallowing at inclusion in the study. These symptoms initially decreased after the start of the treatment, but (re)appeared in all five infants between the ages of 8 to 12 months, requiring the start tube of feeding. In the same period motor function scores significantly improved (median increase CHOP INTEND 16 points). Conclusion: Impaired feeding and swallowing remain important complications in infants with SMA type 1 after the start of nusinersen. Improvement of motor function does not imply similar gains in bulbar function.
DOCUMENT
This is the protocol for a review and there is no abstract. The objectives are as follows: To assess the effects of skeletal muscle training on functional performance in people with spinal muscular atrophy (SMA) type 3 and to identify any adverse effects
DOCUMENT
Background The Six-Minute Walk Test (6MWT) is increasingly being used as a functional outcome measure for chronic pediatric conditions. Knowledge about its measurement properties is needed to determine whether it is an appropriate test to use. Purpose The purpose of this study was to systematically review all published clinimetric studies on the 6MWT in chronic pediatric conditions. Data Sources The databases MEDLINE, EMBASE, CINAHL, PEDro, and SPORTDiscus were searched up to February 2012. Study Selection Studies designed to evaluate measurement properties of the 6MWT in a chronic pediatric condition were included in the systematic review. Data Extraction The methodological quality of the included studies and the measurement properties of the 6MWT were examined. Data Synthesis A best evidence synthesis was performed on 15 studies, including 9 different chronic pediatric conditions. Limited evidence to strong evidence was found for reliability in various chronic conditions. Strong evidence was found for positive criterion validity of the 6MWT with peak oxygen uptake in some populations, but negative criterion validity was found in other populations. Construct validity remained unclear in most patient groups because of methodological flaws. Little evidence was available for responsiveness and measurement error. Studies showed large variability in test procedures despite existing guidelines for the performance of the 6MWT. Limitations Unavailability of a specific checklist to evaluate the methodological quality of clinimetric studies on performance measures was a limitation of the study. Conclusions Evidence for measurement properties of the 6MWT varies largely among chronic pediatric conditions. Further research is needed in all patient groups to explore the ability of the 6MWT to measure significant and clinically important changes. Until then, changes measured with the 6MWT should be interpreted with caution. Future studies or consensus regarding modified test procedures in the pediatric population is recommended.
DOCUMENT
