The review and evaluation of inherited metabolic disorders: service use and demand on a quaternary paediatric health service

Abstract

Introduction

Inherited metabolic disorders (IMDs) can have significant morbidity, mortality and associated healthcare needs, often resulting in acute metabolic decompensation (AMD). This research evaluated the IMD service of a quaternary paediatric centre with respect to inpatient (IP) admissions (including intensive care unit (ICU), emergency department (ED) presentations, outpatient (OP) encounters, and after-hours on-call support.

Methods

This research comprised a retrospective review of 718 patients examining 3021 IP admissions, 1542 ED presentations, and 15886 OP encounters from 2004-2013. Using a novel data collection tool, it also prospectively evaluated the on-call clinical activity of 546 encounters for 135 patients over 10 months.

Results

Three usage patterns emerged: (1) High acute-care activity linked with high-risk of AMD. (2) Planned care activity predominantly associated with low-risk of AMD and chronic care needs. (3) A mixed-use pattern with complex distribution across service types.

IMDs at high-risk of AMD accounted for 50% of deaths, the most acute IP admissions, ICU care, ED presentations, and on-call encounters, demonstrating longer length of stay when requiring ICU care compared to low-risk of AMD (10 vs 6 days, p=0.005).

Children <1 year had a higher likelihood of ICU care compared to all other age groups. Younger children had greater overall service use. Organic acidaemias had the highest service use per patient. Lysosomal storage and mitochondrial disorders, while at low-risk of AMD, had notable planned resource use. On-call prevented 165 hospital encounters.

Conclusion

IMDs are complex and multifaceted. This research offers the first comprehensive analysis of paediatric IMD after-hours on-call activity. Specialist IMD services are necessary to manage both acute crises and chronic care. These insights will guide service planning and resource allocation. Future research should incorporate multicentre and broader health system linkage data.