Isolated congenital diaphragmatic hernia and three-year neurodevelopmental outcomes.

Background: To retrospectively investigate the developmental outcomes at 3 years of age in patients with congenital diaphragmatic hernia (CDH) using a multicenter collaborative research approach.

Methods: We evaluated patients with CDH and no other malformations born between 2010 and 2016 in seven facilities in the Japanese CDH Research Group. The developmental quotient (DQ) at 3 years of age was evaluated using the Kyoto Scale of Psychological Development 2001, the most standardized scale in Japan. Factors associated with a DQ score < 85 were also analyzed.

Results: Of 196 patients, developmental assessments at 3 years of age were performed in 132 patients (67%). Among these, 99 patients (75%) had a DQ score ≥ 85, 25 (19%) had a DQ score between 70 and 84, and 8 (6%) had a DQ score < 70. Multivariate analysis showed that the observed/expected lung area-to-head circumference ratio was an independent predictor of a DQ score < 85, with an adjusted odds ratio of 0.62 (95% confidence interval: 0.40-0.96; p = 0.03).

Conclusion: Generally, isolated CDH is associated with good developmental outcomes for survivors, even after intensive care. However, there is a risk of neurodevelopmental impairment if pulmonary hypoplasia is present.

Impact: This research highlights the observed/expected lung area-to-head circumference ratio (o/e LHR) as a crucial indicator to predict neurodevelopmental outcomes in 3-year-old children diagnosed with isolated congenital diaphragmatic hernia (CDH). Our results provide robust evidence from a large multicenter cohort, emphasizing the importance of o/e LHR in early risk stratification and prolonged neurodevelopmental follow-up. These findings highlight the need for comprehensive management and tailored follow-up care in CDH patients, potentially improving clinical protocols and enhancing the quality of life and outcomes for affected children.