Health-related quality of life of caregivers of children with congenital diaphragmatic hernia.

OBJECTIVE: Congenital diaphragmatic hernia (CDH) is a congenital defect associated with significant mortality and morbidity. We sought to assess the health-related quality of life (HRQoL) for caregivers of infants/children with CDH and determine risk factors for poorer HRQoL. METHODS: Families were recruited from a CDH-specific outpatient clinic and HRQoL was assessed by a validated HRQoL instrument (PedsQLTM Family Impact Module) at several time points. Mixed models were used to identify demographic and clinical factors associated with worse HRQoL for caregivers. RESULTS: A total of 29 subjects were recruited at a mean age of 2.4 ± 2.3 years. In terms of defect size, 6.9% had a Type A, 37.9% a Type B, 31.0% a Type C, and 24.1% a Type D. The mean HRQoL score at the first encounter was 67.6 ± 18.3; scores are reported from 0 to 100 with higher scores representing the higher reported quality of life. Lower median household incomes (p = .021) and use of extracorporeal membrane oxygenation (p = .013) were associated with poorer HRQoL scores. The presence of respiratory symptoms decreased HRQoL for caregivers, including daytime symptoms (p < .001) and nighttime symptoms (p < .001). While emergency department visits were not associated with a decrease in HRQoL, hospital admissions (p = .002), and reoperations for CDH (p < .001) were. CONCLUSION: Our study found a reduced quality of life associated with socioeconomic factors and severity of ongoing disease. Further study is needed to confirm these findings and identify strategies for aiding families cope with the chronicity of this congenital disease.

Clinical features and outcomes associated with tracheostomy in congenital diaphragmatic hernia.

INTRODUCTION: The purpose of this study was to examine the clinical features/outcomes associated with tracheostomy in infants with congenital diaphragmatic hernia (CDH). METHODS: The study population consisted of liveborn infants reported to the CDH Study Group registry between 2007 and 2017. Subjects were identified as having a tracheostomy if they were discharged or transferred to another hospital with tracheostomy and/or on mechanical ventilation. Multivariate mixed models were used for analyses. RESULTS: The registry population consisted of 5434 subjects, of whom 230 (4.2%) underwent tracheostomy placement. Only 3830 (70.5%) infants survived until discharge/transfer. The median age of tracheostomy placement was 3.3 months (range, 1.3-13.4 when known; n = 58 out of 154 survivors). The mortality rate among subjects with tracheostomy was 32.8% with a median of 37 days (range, 8-189 when known; n = 32 out of 75 deceased) ensuing between tracheostomy placement and death. The clinical features found to be associated with increased odds ratio of tracheostomy placement included male sex, birth weight, 5-minute APGAR score, defect size, liver in chest, ECMO use, cardiac abnormality, other congenital abnormalities, pulmonary hypertension, and the presence of a feeding tube. There was center variation in the rate of tracheostomy placement, which may be partially accounted for by disease severity, but not center size. CONCLUSION: There are several clinical features that are associated with increased likelihood of tracheostomy placement. Most deaths in subjects with tracheostomies occurred outside the immediate postoperative period. The utility of a standardized protocol for tracheostomy in infants with CDH should be considered.

An 18-year-old woman with pulmonary nodules found to have cytotoxic T-lymphocyte-associated antigen 4 deficiency.

An 18-year-old woman was admitted with abdominal pain and hematochezia. She was previously healthy until 15 years of age and was subsequently diagnosed with hypogammaglobulinemia, protein-losing enteropathy, a benign temporal lobe brain lesion/orbital fibroadenoma, autoimmune hepatitis, iron deficiency anaemia and hypothyroidism. She developed respiratory distress and hypoxemia. She was found to have nodules on chest CT scan. She was diagnosed with cytotoxic T-lymphocyte-associated antigen 4 deficiency via genetic testing.