Palliative Care in Children with Inherited Metabolic Diseases: Why does it matter?

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.

[Risk Factors for Healthcare Associated Sepsis in Very Low Birth Weight Infants]. / Fatores de Risco para Sépsis Associada aos Cuidados de Saúde em Recém-nascidos de Muito Baixo Peso.

INTRODUCTION: Healthcare associated infections in very low birth weight infants are associated with significant morbidity and mortality and are also a cause of increased length of stay and hospital costs. The objective of this study was to evaluate the rate of healthcare-associated sepsis and associated risk factors in very low birth weight infants. MATERIAL AND METHODS: Retrospective observational study including very low birth weight infants hospitalized in a Neonatal Intensive Care Unit during ten years (2005-2014). We evaluated the association between several risk factors and healthcare-associated sepsis. RESULTS: 461 very low birth weight infants were admitted. There were 110 episodes of HS in 104 very low birth weight infants and 53 episodes of sepsis associated with central vascular catheter. The density of the sepsis was 7.5/1 000 days of hospitalization and the density of central vascular catheter - associated sepsis was 22.6/1 000 days of use. The infants with HS had lower average birth weight and gestational age (959 ± 228 g vs 1191 ± 249 g and 27.6 ± 2 vs 29.8 ± 2.2 weeks), p < 0.001. After adjusting for birth weight and gestational age we verified an association between healthcare-associated sepsis and antibiotic therapy in D1, the duration of parenteral nutrition and central vascular catheter. After logistic regression only the gestational age and duration of parenteral nutrition remained as independent significant risk factors for healthcare-associated sepsis. DISCUSSION: The independent factors for healthcare-associated sepsis are gestational age and duration of parenteral nutrition. CONCLUSION: For each extra week on gestational age the risk declined in 20% and for each day of NP the risk increased 22%.

Introdução: As infeções associadas aos cuidados de saúde constituem uma importante causa de morbi-mortalidade neonatal, levando a um aumento do tempo de internamento e consequentemente dos seus custos. O objetivo deste estudo foi avaliar a taxa de incidência de infeções associadas aos cuidados de saúde e os seus principais fatores de risco em recém-nascidos de muito baixo peso. Material e Métodos: Estudo retrospetivo dos recém-nascidos de muito baixo peso internados numa maternidade com apoio perinatal diferenciado, durante um período de 10 anos (2005-2014). Foi analisada a existência de associação entre vários fatores de risco e a ocorrência de infeções associadas aos cuidados de saúde. Resultados: Foram internados 461 recém-nascidos de muito baixo peso. Houve 110 episódios de infeções associadas aos cuidados de saúde em 104 recém-nascidos e 53 episódios de sépsis associada a cateterismo venoso central. A densidade de sépsis foi 7,5/1 000 dias de internamento e a densidade de sépsis associada ao cateterismo venoso central 22,6/1 000 dias de utilização. Os recém-nascidos com infeções associadas aos cuidados de saúde apresentaram uma média de peso ao nascimento e idade gestacional inferior (959 ± 228 g vs 1191 ± 249 g) e (27,6 ± 2 vs 29,8 ± 2,2 semanas), p < 0,001. Após ajuste à idade gestacional e peso ao nascimento verificámos associação entre infeções associadas aos cuidados de saúde e antibioterapia em D1, duração de cateterismo venoso central e da nutrição parentérica. Após regressão logística, mantiveram-se como fatores de risco independentes com significância estatística, a idade gestacional e a duração da nutrição parentérica. Discussão: Os fatores de risco independentes para infeções associadas aos cuidados de saúde foram a idade gestacional e a duração da nutrição parentérica. Conclusão: Por cada semana a mais na idade gestacional o risco de infeções associadas aos cuidados de saúde diminuiu em 20% e por cada dia de nutrição parentérica o risco aumentou em 22%.

Type 1 diabetes and GAD65 limbic encephalitis: a case report of a 10-year-old girl.

Limbic encephalitis is a rare neurological disorder that may be difficult to recognize. Clinical features include memory impairment, temporal lobe seizures and affective disturbance. We report the case of a 10-year-old girl with type 1 diabetes mellitus that presented with seizures, depressed mood and memory changes. The diagnosis of glutamic acid decarboxylase 65 (GAD65) mediated limbic encephalitis relied on cerebral magnetic resonance imaging lesions and high serological and cerebrospinal fluid GAD65-antibodies titers. High-dose steroidal therapy was started with clinical improvement. Relapse led to a second high-dose steroid treatment followed by rituximab with remission. A correlation between serum GAD65-antibodies levels and symptoms was found, demonstrating GAD65-antibodies titers may be useful for clinical follow-up and immunotherapy guidance. This report raises awareness of this serious neurological condition that may be associated with type 1 diabetes, underlining the importance of an early diagnosis and prompt treatment for a better prognosis.