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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.

Journal of Neuromuscular Diseases
|April 26, 2020
PubMed
Summary

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.

Keywords:
Spinal muscular atrophyaspirationdysphagiahypotonia

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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.