Paediatric Palliative Care in a Reference Centre of Inherited Metabolic Diseases.

Abstract

Introduction: Paediatric palliative care (PPC) has a significant role in improving the quality of life of children with life-limiting or life-threatening illnesses, diminishing symptom burden, and providing holistic support to patients and families. Inherited metabolic diseases (IMD) are a group of heterogeneous diseases that often present with severe neurologic impairment, needing lifelong care and challenging symptom management.

Objective: Our aim was to characterize the cohort of patients with IMD followed by the paediatric palliative care team (PPCT) and to describe the provision of care provided.

Methods: The descriptive analysis of demographic, clinical, and care delivery data of a cohort of paediatric patients was carried out with a confirmed diagnosis of IMD, followed in a Reference Centre, in the care of PPCT between 2018 and 2023.

Results: Thirteen (10%) of a total of 134 patients in the care of PPCT had a confirmed diagnosis of an IMD: 6 mitochondrial, 3 peroxisomal, 3 lysosomal, and 1 pterin metabolism disorder. The median age at referral was 9 years (0-18), the median duration of care was 2 years [2-4], median number of home visits in the last year was 2 [1-4], and median number of outpatient consults was 4 [2 -8]. Twelve patients (92%) had no autonomy in their activities of daily living. Neurologic (100%), gastrointestinal (92%), and respiratory (69%) symptoms were the main focus of care. All patients were polymedicated (5 or more different drugs). Nine (69%) had percutaneous gastrostomy and 2 (15%) had noninvasive ventilation. Median hospital admissions before and after starting care by PPCT were 4 and 1. Moreover, three patients died and one was at home.

Conclusion: Mitochondrial, lysosomal, and peroxisomal disorders are complex multisystemic diseases that very often have no treatment intended to cure. These patients have a heavy symptom burden and frequent intercurrences. Addressing these symptoms is challenging, but PPC has proven to reduce hospital admissions with consequent improvement in quality of life. In the future, PPC should be available for all children and families with life-threatening conditions.