Abstract
Oro-pharyngeal dysphagia commonly occurs in patients with infantile onset Pompe disease (IOPD), which is a rare recessive neuromuscular disorder caused by deficiency of the lysosomal enzyme acid alpha-glucosidase. Without treatment, death occurs by 1 year of age from cardiorespiratory failure. Enzyme replacement therapy (ERT) has been used to increase life expectancy, however emerging developmental and medical morbidities have become apparent. A case file review of the feeding outcomes of 12 patients with IOPD, managed at a single tertiary centre, was undertaken. Two types of assessment had been completed: clinical feeding assessment (CFA) and instrumental videofluoroscopy swallow study (VFSS). A rating of functional oral intake at every Speech and Language Therapy feeding assessment from initial diagnosis to the most recent assessment was applied using the functional oral intake scale (FOIS).
Results indicate, initial diagnosis VFSS predicts long-term feeding outcomes. Even if a patient had an improvement in oral feeding after diagnosis, over a period of time their oral intake returned to the initial diagnosis VFSS level or below. All patients (8/8) who required non-oral feeding support under 6 months of age went on to require non-oral feeding support, even if they had periods of full oral feeding. CRIM negative status predicted significant oral feeding difficulties. An evidence-based follow-up protocol was developed. The information is used at diagnosis to counsel families regarding feeding prognosis and consideration of early gastrostomy when cardiac status allows safe anaesthesia. The results reinforce that feeding changes over time and patients require on-going dysphagia monitoring.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Arvedson J, Christensen S (1993) Instrumental evaluation. In: Arvedson JC, Brodsky L (eds) Pediatric swallowing and feeding: assessment and management. Singular Publishing Group, California, pp 293–326
Chakrapani A, Vellodi A, Robinson P, Jones S, Wraith JE (2010) Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience. J Inherit Metab Dis 33(6):747–750
Crary M, Carnaby Mann GD, Groher ME (2005) Initial psychometric assessment of a functional oral intake scale for dysphagia in stroke patients. Arch Phys Med Rehabil 86:1516–1520
Fecarotta S, Ascione S, Montefusco G et al (2013) Improvement in dysphagia in a child affected by Pompe disease treated with enzyme replacement therapy. Ital J Pediatr 39:30–35
Jones H, Muller C, Lin M et al (2009) Oropharyngeal dysphagia in infants and children with infantile Pompe disease. Dysphagia 25(4):277–83
Khoury PR, Mitsnefes M, Daniels SR, Kimballs TR (2009) Age-specific reference intervals for indexed left ventricular mass in children. J Am Soc Echocardiogr 22:709–714
Kishnani PS, Corzo D, Nicolino M et al (2007) Recombinant human acid alpha-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 68:99–109
Leslie P, Drinnan MJ, Finn P, Ford GA, Wilson JA (2004) Reliability and validity of cervical auscultation: a controlled comparison using videofluoroscopy. Dysphagia 19:231–240
Prater SN, Banugaria S, De Armey PA-C et al (2012) The emerging phenotype of long-term survivors with infantile Pompe disease. Genet Med 14(9):800–810
Reuser AJJ, van der Ploeg T (2012) Pompe disease. In: Mehta A, Winchester B (eds) Lysosomal storage disorders: a practical guide. Wiley, West Sussex, pp 101–106
van Gelder CM, Van Capelle CI, Ebbink BJ et al (2011) Facial-muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapy. J Inherit Metab Dis 35(3):505–511
Wallis C, Ryan M (2012) Assessing the role of aspiration in pediatric lung disease. Pediatr Allergy Immunol Pulmonol 25(3):132–142
Young C (1993) Nutrition. In: Arvedson JC, Brodsky L (eds) Pediatric swallowing and feeding: assessment and management. Singular Publishing Group, California, pp 157–208
Acknowledgements
We thank the members of the Department of Metabolic Medicine, Lysosomal Storage Disorders team for their assessment and management of the patients included in this study that led to the robust data available. We thank members of the Department of Speech and Language Therapy for their contribution to ideas and revisions of the paper.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Additional information
Communicated by: Maurizio Scarpa, M.D, Ph.D
Appendices
Single Sentence Synopsis
Oro-pharyngeal dysphagia is common among patients with IOPD and oral intake at diagnosis predicts long-term feeding outcomes.
Conflict of Interest
Gyani Swift, Maureen Cleary, Stephanie Grunewald, Sonia Lozano, Martina Ryan, and James Davison declare that they have no conflict of interest.
Compliance with Ethics Guidelines
This article does not contain any studies with human or animal subjects performed by any of the authors. The study was approved by the local Research and Audit team as a retrospective review of case file documents that did not require patient consent.
Contribution of Authors
GS: Responsible for the study’s conception and design, collated and analysed all data and wrote the manuscript.
MC: Involved in critical revision and editing of the article.
SG: Involved in critical revision and editing of the article.
SL: Involved in the study’s conception, design, analysis of data, critical revision, and editing.
MR: Involved in critical revision and editing of the article.
JD: Oversaw the critical revision and editing of the article.
Guarantor
G Swift
Funding
None
Rights and permissions
Copyright information
© 2016 SSIEM and Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Swift, G., Cleary, M., Grunewald, S., Lozano, S., Ryan, M., Davison, J. (2016). Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 33. JIMD Reports, vol 33. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2016_576
Download citation
DOI: https://doi.org/10.1007/8904_2016_576
Received:
Revised:
Accepted:
Published:
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-662-55011-3
Online ISBN: 978-3-662-55012-0
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)