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Feeding and Swallowing Problems in Infants with Spinal Muscular Atrophy Type 1: an Observational Study
A M B van der Heul1, I Cuppen1, R I Wadman1
1Department of Neurology, University Medical Center Utrecht, Rudolf Magnus Institute of Neuroscience, Spieren voor Spieren Kindercentrum, Utrecht, the Netherlands.
Insights
Infants with spinal muscular atrophy (SMA) type 1 experience feeding and swallowing difficulties. While nusinersen improved motor function, bulbar issues like dysphagia persisted, often requiring feeding tubes.
Area of Science:
- Neurology
- Pediatrics
- Genetics
Background:
- Infantile hereditary proximal spinal muscular atrophy (SMA) type 1 presents with severe muscle weakness within the first six months of life.
- Dysphagia is a frequent complication in SMA type 1, yet its specific impact on feeding has not been thoroughly investigated.
Purpose of the Study:
- To investigate feeding and swallowing challenges in infants diagnosed with SMA type 1.
- To analyze the correlation between feeding/swallowing problems and the severity of motor functional deficits.
Main Methods:
- A prospective study involving 16 infants with SMA type 1 from September 2016 to October 2018.
- Assessment of feeding issues using an observation list and direct observation of feeding sessions.
- Motor function was evaluated using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) scale.
Main Results:
- Infants receiving palliative care exhibited significant feeding fatigue and unsafe swallowing, with 91% coughing and 64% experiencing wet breathing during/after feeding.
- In the nusinersen group, initial improvements in feeding/swallowing symptoms were observed, but these issues re-emerged between 8-12 months, necessitating feeding tube support for all five infants.
- Despite persistent bulbar symptoms, infants treated with nusinersen showed significant motor function improvements (median CHOP INTEND increase of 16 points).
Conclusions:
- Impaired feeding and swallowing are persistent complications in infants with SMA type 1, even after initiating nusinersen treatment.
- Improvements in gross motor function do not necessarily translate to concurrent improvements in bulbar function for infants with SMA type 1.
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.
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