Clinical outcome of children with corpus callosum agenesis

Abstract Background Agenesis of the corpus callosum (ACC) is a rare congenital brain malformation and can be associated with other cerebral malformations and/or underlying genetic causes. Prenatal counselling is hampered due to the lack of reliable long-term data on neurodevelopmental outcome. Objective Neurodevelopmental outcome in children with ACC to improve evidence-based prenatal counselling. Methods and patients. Since 2010, a total of 23 children with ACC (mean age 3.8 years, range 0.7-9.7 years) were registered in our ACC outpatient clinic and diagnosed in a standardized manner; the data was analyzed retrospectively. Pre- and postnatal imaging, associated malformations, genetic and clinical findings, and psychological testing (Bayley Scales, K-ABC, SONR, WPPSI) were included. The clinical outcome was classified as "normal" (IQ 85-115, unremarkable motor skills), "moderate developmental delay" (IQ 70-85, mild motor abnormalities), "severe developmental delay" (IQ Results Isolated CC malformation was diagnosed in 15/23 (65%), associated cerebral malformations in 4/23 (17%), and associated cerebral malformations plus intracranial cyst in 4/23 (17%) children. Prenatal diagnosis changed in 9/23 (39%) cases. Overall, a normal outcome, moderate or severe developmental delay was present in 15/23 (65%), 5/23 (22%) or 3/23 (13%) children, respectively. Also 6/8 children with associated cerebral malformations showed normal outcome. Conclusion Our findings support the notion that developmental outcome is favourable in about two-thirds of children with prenatally diagnosed ACC. However, the individual outcome in children with ACC is difficult to predict. Even children with correctly characterized phenotypes show a variety of outcomes, which leaves prenatal counselling challenging.