Liver transplantation in children with inborn errors of metabolism: 30 years experience in NSW, Australia.

BACKGROUND: Inborn errors of metabolism (IEM) are a diverse group of genetic disorders that can result in significant morbidity and sometimes death. Metabolic management can be challenging and burdensome for families. Liver transplantation (LT) is increasingly being considered a treatment option for some IEMs. IEMs are now considered the second most common reason for pediatric LT. AIM: To review the data of all children with an IEM who had LT at The Children's Hospital at Westmead (CHW), NSW, Australia between January 1986 and January 2019. METHODS: Retrospective data collected from the medical records and genetic files included patient demographics, family history, parental consanguinity, method of diagnosis of IEM, hospital and intensive care unit admissions, age at LT, graft type, clinical outcomes and metabolic management pre and post-LT. RESULTS: Twenty-four LT were performed for 21 patients. IEM diagnoses were MSUD (n = 4), UCD (n = 8), OA (n = 6), TYR type I (n = 2) and GSD Ia (n = 1). Three patients had repeat transplants due to complications. Median age at transplant was 6.21 years (MSUD), 0.87 years (UCD), 1.64 years (OA) and 2.2 years (TYR I). Two patients died peri-operatively early in the series, one died 3 months after successful LT due to septicemia. Eighteen LTs have been performed since 2008 in comparison to six LT prior to 2008. Dietary management was liberalized post LT for all patients. CONCLUSIONS: Referral for LT for IEMs has increased over the last 33 years, with the most referrals in the last 10 years. Early LT has resulted in improved clinical outcomes and patient survival.

Pediatric third liver transplantation-A single-center experience.

BACKGROUND: Pediatric retransplantation is an accepted practice for graft failure and complications in Australasia. As 15% of children require a third transplant, this is a growing cohort with limited data in the literature. METHODS: We review nine patients from the commencement of our transplantation program in 1986 up to 2020 assessing demographics, prognosis, and outcome measures. RESULTS: Third transplant patient survival was comparative to first and second transplant patient survival at 5 years. All deaths were within the post-operative period and secondary to sepsis. Operative times and transfusion volumes were increased at third transplant (1.8 and 4.5 times compared to first transplant, respectively). Learning difficulties and psychological disturbances were prevalent (83% and 66.6%, respectively). CONCLUSIONS: While recent mortality outcomes appear comparable to undergoing a second liver transplant, third transplant operations were more complex. Neurological impairment and psychological disturbance appear to be prevalent and need to be considered in pre-transplant counseling.

Family Impact and Infant Emotional Outcomes Following Diagnosis of Serious Liver Disease or Transplantation in Infancy.

OBJECTIVES: Research is lacking into the emotional effects on families of serious chronic illness in infants. We examined the effect of the diagnosis of serious liver disease in infants upon parent psychological symptoms and family functioning. We hypothesized that parent psychological symptoms, family functioning, and father engagement will predict infant emotional outcomes. METHODS: Parents of infants recently diagnosed with serious liver disease completed validated questionnaires about parent stress, family function, impact of the illness on the family, and father engagement. The measures were repeated after 1 year, with the addition of the Child Behavior Checklist (CBCL). RESULTS: Parents of 37 infants participated. Parent stress and family functioning scores were not elevated. Parent psychological symptoms, family function, and father engagement did not predict infant outcome. For mothers, infant diagnosis other than biliary atresia, number of outpatient visits, and impact of the illness on the family explained 32% of the variation in CBCL (P = 0.001). For fathers, socioeconomic status, infant diagnosis other than biliary atresia, whether the infant had had a transplant, and impact of the illness on the family explained 44% of the variation in CBCL (P < 0.001). CONCLUSIONS: Parents and families appear to be resilient in coping with serious infant illness. Infant diagnosis other than biliary atresia and parental perceptions of high impact of the illness on the family are indicators of negative emotional outcomes for infants with serious liver disease. Psychosocial interventions for infants with chronic illness should target reducing the impact of illness on the family.

Family adjustment and parenting stress when an infant has serious liver disease: the Australian experience.

OBJECTIVES: Parenting stress, problems in family functioning, and lack of fathers' engagement in treatment are associated with poor quality of life in children with chronic illnesses. The aim of the present study was to examine these characteristics in families of infants with serious liver disease in Australia, to inform the provision of mental health care for these families. METHODS: From September 2009 to May 2013, 42 parents of infants recently diagnosed as having serious liver disease (defined as liver disease that may require transplantation in the future) completed questionnaires about family function, impact of the infant's illness on the family, parent stress symptoms, and fathers' engagement in the care of the child. Participants were recruited from 4 metropolitan children's hospitals in Australia. RESULTS: Parents reported psychological symptoms at similar rates to normative populations. Their reports of family functioning were significantly below mean scores in previously published populations with a medically ill family member (population mean 1.89; mothers mean 1.59; fathers mean 1.61, P < 0.001). Disruption to family roles was significantly correlated with psychological symptoms for mothers (r = 0.48, P < 0.01) and fathers (r = 0.31, P < 0.05). Greater helpfulness of fathers was correlated with lower depression in mothers (r = -0.35, P < 0.05), and fathers' anxiety was correlated with their increased engagement (r = 0.40, P < 0.01). CONCLUSIONS: When parents report the presence of psychological symptoms, symptoms are likely to be present in both parents and are associated with difficulties adjusting to disrupted family roles. Father engagement may be protective of mothers' mental health.