Isolated congenital diaphragmatic hernia and three-year neurodevelopmental outcomes

Abstract 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.