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
Duchenne muscular Dystrophy (DMD) is a progressive degenerative muscle disease, affecting, among others, the upper extremities. Effective hand rehabilitation can improve the hand function of people with DMD. To reach this goal, we first need to gain more insight into the hand cognitive-motor performance of people with DMD. This is the first study employing a systematic analysis on multi-finger, cognitive-motor performance of people with DMD. For this purpose, we propose an active dynamic visuo-motor task. The task employed six visual stimuli, a subset of which was activated at each trial. The stimuli were activated with a frequency of 1, 2, 3 and 4 Hz. Eight healthy participants and three participants with DMD performed the task. Additionally, the healthy participants performed seven sessions, and we assessed the training effects. Task-related cognitive-motor performance was evaluated using information transfer rate (ITR) and perceived workload. Regarding ITR, healthy participants performed significantly better than DMD participants; however, this was more evident for trials involving more than three fingers. Workload showed no difference between the healthy and the DMD groups. Healthy participants significantly improved their performance during training. Our results suggest that hand rehabilitation of people with DMD should consider multi-finger dynamic training. However, additional research with more people with DMD is needed for further generalization of our conclusions.
MULTIFILE
Our unilateral diet has resulted in a deficiency of specific elements/components needed for well-functioning of the human body. Especially the element magnesium is low in our processed food and results in neuronal and muscular malfunctioning, problems in bone heath/strength, and increased chances of diabetes, depression and cardiovascular diseases. Furthermore, it has also been recognized that magnesium plays an important role in cognitive functioning (impairment and enhancement), especially for people suffering from neurodegenerative diseases (Parkinson disease, Alzheimer, etc). Recently, it has been reported that magnesium addition positively effects sleep and calmness (anti-stress). In order to increase the bioavailability of magnesium cations, organic acids such as citrate, glycerophosphate and glycinate are often used as counterions. However, the magnesium supplements that are currently on the market still suffer from low bio-availability and often do not enter the brain significantly.The preparation of dual/multiple ligands of magnesium in which the organic acid not only functions as a carrier but also has synergistically/complementary biological effects is widely unexplored and needs further development. As a result, there is a strong need for dual/multiple magnesium supplements that are non-toxic, stable, prepared via an economically and ecologically attractive route, resulting in high bioavailability of magnesium in vivo, preferably positively influencing cognition/concentration
