Challenges of palliative care in children with inborn metabolic diseases

Jessica I. Hoell,
Jens Warfsmann,
Felix Distelmaier,
Arndt Borkhardt,
Gisela Janßen† and
Michaela Kuhlen†Email author View ORCID ID profile

†Contributed equally

Orphanet Journal of Rare Diseases201813:112

https://doi.org/10.1186/s13023-018-0868-5

Received: 6 March 2018

Accepted: 3 July 2018

Published: 9 July 2018

Abstract

Background

Our objective was to evaluate children with metabolic diseases in paediatric palliative home care (PPC) and the process of decision-making. This study was conducted as single-centre retrospective cohort study of patients in the care of a large specialized PPC team.

Results

Between 01/2013 and 09/2016, 198 children, adolescents and young adults were in the care of our PPC team. Twenty-nine (14.6%) of these patients had metabolic conditions. Median age at referral was 2.6 years (0–24), median duration of care 352 days (3–2248) and median number of home visits 13 (1–80). Most patients are still alive (16; 55.2%). Median number of drugs administered was 5 (range 0–12), antiepileptics were given most frequently.

Symptom burden was high in all children with metabolic disorders at referral and remained high throughout care. Predominant symptoms were gastrointestinal, respiratory and neurologic symptoms.

Children with metabolic conditions, who were referred to PPC younger than 1 year of age had a shorter period of care and died earlier compared to those children, who were referred to PPC later in their lives (older than 10 years of age).

Eleven (37.9%) of the children initially had no resuscitation restrictions and 7 (53.8%) of those who died, did so on ICU.

Conclusions

About 15% of children with life-limiting conditions in PPC present with metabolic diseases. Symptom burden is high with neurologic, respiratory and gastrointestinal symptoms being the most frequent and most of those being difficult to treat. In these children, particular attention needs to be addressed to advance care planning.