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. 2018 Jul 9;13(1):112.
doi: 10.1186/s13023-018-0868-5.

Challenges of palliative care in children with inborn metabolic diseases

Jessica I Hoell  1 , Jens Warfsmann  1 , Felix Distelmaier  2 , Arndt Borkhardt  1 , Gisela Janßen  1 , Michaela Kuhlen  3
Affiliations

Challenges of palliative care in children with inborn metabolic diseases

Jessica I Hoell et al. Orphanet J Rare Dis. .

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.

Keywords: Children; End-of-life care; Metabolic disease, neurological disease; Palliative care.

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Conflict of interest statement

Ethics approval and consent to participate

Written informed consent was obtained from the parents and legal guardians respectively. The study was approved by the local ethics committee (study number 4969).

Consent for publication

Consent for publication was obtained from the parents or legal guardians respectively.

Competing interests

All authors declare that they have no competing interests.

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Figures

Fig. 1
Fig. 1
Signs and symptoms of children with metabolic diseases at referral (first 30 days of care). Shown values represent symptom scores as the number of home visits in the first 30 days of care is accounted for. a) Overall signs and symptoms. b) Detailed respiratory symptoms. c) Detailed gastrointestinal symptoms. D) Detailed neurological symptoms
Fig. 2
Fig. 2
Signs and symptoms of deceased children with metabolic diseases at the end of care (last 30 days of care). Shown values represent symptom scores as the number of home visits in the last 30 days of care is accounted for. a) Overall signs and symptoms. b) Detailed respiratory symptoms. c) Detailed gastrointestinal symptoms. d) Detailed neurological symptoms
See this image and copyright information in PMC

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