Disease severity impacts perceived quality of life in congenital diaphragmatic hernia: a prospective observational study.

BACKGROUND: While research indicates comparable quality of life (QOL) in congenital diaphragmatic hernia (CDH) and healthy populations, the effect of CDH severity on patients' health perceptions remains unexplored. We aimed to assess QOL perception in CDH, hypothesising a decline correlated with increased disease severity. METHODS: In this prospective observational study, we analysed patients with CDH aged 5 years and above participating in a longitudinal outpatient programme. We excluded bilateral CDH, genetic/syndromic conditions, prematurity and late diagnosis. Participants self-administered the age-adapted Pediatric Quality of Life Inventory (PedsQL) survey, covering four domains (physical, emotional, social, school). After enrolment, data were collected blind to severity status (larger defects denoting significant/'severe' disease). Repeated measurements were managed using a random mixed-effects model. RESULTS: Of 34 participants (50% males) who completed the PedsQL, 10 provided measurements at two visits. Eight required a patch (type C), while 26 had primary repairs (type A=8; type B=18). Age at first evaluation was comparable across groups (no patch: median 11 (7-16), patch: 13 (8-15) years, p=0.78). Severe CDH correlated significantly with lower PedsQL scores (adjusted ß: -18%, 95% CI -28%; -7%, adjusted for age at visit and sex). Lower scores specifically occurred in walking, exercising, social and academic functioning. CONCLUSION: Severe CDH significantly lowers QOL. This finding is crucial for resource allocation in long-term CDH health surveillance and advocates for regular inclusion of patient experiences in quality improvement efforts.

Risk stratification helps identify congenital diaphragmatic hernia (CDH) infants in need of formal neurodevelopmental assessment: Observations from a structured, interdisciplinary long-term follow-up clinic.

BACKGROUND/PURPOSE: Neurodevelopmental delay (NDD) affects congenital diaphragmatic hernia (CDH) infants. Initial assessment by experienced developmental pediatricians, supported by Bayley-3 tests, is a viable pathway for NDD identification and surveillance. We risk stratified CDH infants to observe differences in incidence and type of NDD based on disease severity. METHODS: Patients from a CDH long-term follow-up database started in 2012 were reviewed (REB#2019-4583). Risk stratification into low, moderate, and high-risk cohorts was performed using the CDH Study Group Mortality Prediction Score. Patients requiring ECLS, supplemental oxygen at 30 days and patch repair were also considered high-risk (i.e. usual clinical criteria). Post-discharge NDD assessments by developmental pediatricians and occupational therapists (Bayley-3) were analyzed for all patients >18months. NDD incidence and type per risk group was determined using descriptive statistics. RESULTS: Of 102 CDH patients included for study, 26% (27/102) had NDD. Risk stratification identified 2(2%), 7(7%), and 18(18%) patients with NDD in the low, moderate and high-risk groups, respectively. Language delay (2 low; 6 moderate; 10 high) was the most prevalent. Three patients had both expressive and receptive language delay. Motor deficits were observed almost exclusively in the high-risk group. CONCLUSION: Based on our experience, NDD affects one-quarter of CDH infants. Risk stratification helped identify infants at increased risk of NDD. While language delays predominated across all risk groups, multiple deficits occurred in higher risk cohorts. These patients should receive structured NDD assessment as part of an optimal interdisciplinary CDH care pathway.