Feeding and Swallowing Problems in Infants with Spinal Muscular Atrophy Type 1: an Observational Study

Article type: Research Article

Authors: van der Heul, A.M.B.^{a; *} | Cuppen, I.^a | Wadman, R.I.^a | Asselman, F.^a | Schoenmakers, M.A.G.C.^{a; d} | van de Woude, D.R.^{a; d} | Gerrits, E.^b | van der Pol, W.L.^{a; *} | van den Engel-Hoek, L.^{c; 1}

Affiliations: [a] Department of Neurology, University Medical Center Utrecht, Rudolf Magnus Institute of Neuroscience, Spieren voor Spieren Kindercentrum, Utrecht, the Netherlands | [b] Department of Language, University Utrecht, Utrecht Institute of Linguistics OTS, Literature and Communication, Utrecht, the Netherlands | [c] Department of Rehabilitation, Radboud University Medical Center, Donders Center for Neuroscience, Nijmegen, the Netherlands | [d] Child Development and Exercise Center, Wilhelmina Children’s Hospital, University Medical Center Utrecht, Utrecht, The Netherlands

Correspondence: [*] Correspondence to: W.L. van der Pol and A.M.B. van der Heul, Department of Neurology, University Medical Center Utrecht, Rudolf Magnus Institute of Neuroscience, Spieren voor Spieren Kindercentrum, Utrecht, the Netherlands. E-mails: [email protected]; [email protected].

Note: [1] These two authors contributed equally.

Abstract: 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.

Keywords: Spinal muscular atrophy, hypotonia, dysphagia, aspiration

DOI: 10.3233/JND-190465

Journal: Journal of Neuromuscular Diseases, vol. 7, no. 3, pp. 323-330, 2020