What comes next? Follow through care after genetic diagnosis in infancy

BACKGROUND: Infants with genetic diagnoses may experience medical complexity and developmental delays. Infant follow-up programs have proven benefits for preterm infants. We therefore evaluated the impact of this care model for neonates with genetic disorders. METHODS: Retrospective observational cohort analysis of infants with genetic syndromes who received care in a multidisciplinary infant follow-up clinic from 2019 to 2024. Primary outcomes included establishment of developmental services following genetic diagnosis and unmet developmental supports at subsequent visits. Exposures included both clinical and socio-demographic features. RESULTS: The 104 infants in this cohort had a median age at genetic diagnosis of 2 months chronologic age (IQR 0.56-7 months). At the first visit (median age 9, IQR 6-15 months chronologic age), 16 (15.4%) infants had not established early intervention (EI) services and 72/88 (81.8%) had unmet developmental needs. Infants from families with non-English primary language had decreased odds of receiving EI services (aOR = 0.73, p = 0.03). Through program involvement, unmet developmental support needs decreased over time (OR 0.93, p < 0.001). CONCLUSIONS: Infants with genetic diagnoses are not routinely receiving developmental supports after diagnosis. A structured approach to developmental support for this population is well positioned to address gaps in follow-through care, although ongoing evaluation of accessibility and scalability is needed. IMPACT: Neonates and infants with genetic diagnoses often experience medical and developmental complexity and have unmet support needs. Follow-up programs implemented to support infants following neonatal intensive care unit (NICU) discharge are beneficial to infants born preterm; however, the impact of extending this model of care to neonates with rare genetic disorders had not been thoroughly investigated. Specialized developmental support programs for infants diagnosed with rare genetic conditions have potential to improve follow-through care for this complex population.