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Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease

  • Gyani Swift
  • Maureen Cleary
  • Stephanie Grunewald
  • Sonia Lozano
  • Martina Ryan
  • James Davison
Research Report
Part of the JIMD Reports book series (JIMD, volume 33)

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.

Keywords

Enzyme replacement therapy Feeding Functional oral intake scale Infantile onset Pompe disease Oro-pharyngeal dysphagia 

Notes

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.

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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  • Gyani Swift
    • 1
  • Maureen Cleary
    • 2
  • Stephanie Grunewald
    • 2
  • Sonia Lozano
    • 1
  • Martina Ryan
    • 1
  • James Davison
    • 2
  1. 1.Department of Speech and Language TherapyGreat Ormond Street Hospital NHS Foundation TrustLondonUK
  2. 2.Department of Metabolic MedicineGreat Ormond Street Hospital NHS Foundation TrustLondonUK

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