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.