Title:Palliative Care in Children with Inherited Metabolic Diseases: Why does it matter?
Volume: 24
Issue: 16
Author(s): Joana Pereira Mendes*, Andreia Nogueira, Ema Grilo, Sara Ferreira, Luísa Diogo and Cândida Cancelinha
Affiliation:
- Paediatric Palliative Care Team, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Portugal
Keywords:
Inherited metabolic diseases, Paediatric palliative care referral, Complexity, Home care, Hospital resources, Children
Abstract: Background: Inherited metabolic diseases (IMD) bring considerable burden on the
child and family. Challenging areas for health care include the identification of distressing
symptoms, prognostic uncertainty, and bereavement. Literature regarding the impact of paediatric
palliative care (PPC) is scarce.
Objective: This study aims to evaluate children with IMD referred to a PPC team (PPCT) and to
analyse its impact on home care, decision to limit treatment (DLT), use of hospital resources
(emergency department admissions - EDA, hospital admissions – HA, intensive care admissions
– ICA) and end of life support.
Methods: Retrospective cohort study of children with IMD referred to a specialized PPCT
(2016-2022). We assessed clinical data: symptoms control, time of referral and length of the
follow-up period, DLT, device dependency, use of hospital resources prior to and after referral,
place of death and end-of-life support.
Results: Fifteen children with IMD were referred to PPCT (8% of total referrals), with median
age of 7 years (4 months – 17 years); 53% female. All children were non or pre-verbal. Most
prevalent symptoms were neurologic and motor impairment (100%), respiratory and gastrointestinal
(75%). 80% had tube feeding, 90% had some respiratory device (non-invasive ventilation
in 23%). All children had multidrug use, with a mean of 6 drugs per child (2-9). 73% had
home PPC and 80% had DLT planned. Nine children died (78% in hospital), after a mean of 17
months of follow-up (2 months to 4 years), all with DLT planned. 67% had support from PPCT
at the end of life. All these families received emotional support. Decrease in EDA (10 vs 2) was
noticed before and after PPCT. No impact was seen in HA and ICA (6 vs 5 and 1 vs 1, respectively)
and there was a longer mean of hospitalisation stay (15 vs 32 days).
Conclusion: Our cohort includes a group of children with severe, complex and neurodegenerative
IMD. They need multiple medications for symptoms control, are highly dependent on medical
devices and consume significant healthcare resources. Communication impairment adds
complexity being a major barrier to symptom assessment. PPCT referral allowed home support,
anticipated care plans development with end of life and bereavement support, as well as a tendency
towards a reduction in EDA. These findings reinforce the need for holistic approach to
identify and address the PPC needs of children with IMD.
