Background: Agenesis of the corpus callosum (ACC) is a common cerebral malformation (prevalence
approximately 1.8:10,000 live births). The range of CC malformations includes isolated
agenesis (partial or complete) as well as hypoplasia. Additional cerebral malformations
and extracerebral malformations may be associated; more than 200 genetic syndromes
include an ACC. The diagnosis of an ACC is made predominantly prenatal. The development
of children with isolated ACC is age-appropriate in approx. 75%. Nevertheless, evidence
based prenatal counseling has been low so far.
Objective: Neurodevelopmental outcome in children with ACC to improve evidence based prenatal
counseling.
Patients and Methods: Since 2010, a total of 23 children with ACC have been cared for in the Center for
Chronically Sick Children, Charité. For 17 children, initial contact has already been
carried out as part of our prenatal counseling. Pre- and postnatal imaging (ultrasound,
fetal/postnatal cMRT), associated malformations, genetic and clinical findings, and
psychological testing (Bayley, 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 disorder" (IQ <70,
severe movement disorder).
Results: Gender distribution was balanced; median age at last examination was 3.5 years (0.4–16.5
years). Isolated CC malformation was diagnosed in 15/23 (65%), associated CNS malformations
in 4/23 (17%), and associated CNS malformations plus intracranial cyst in 4/23 (17%)
children. Overall, a normal outcome showed 14/23 (61%) children, a moderate delay
5/23 (22%), and a severe developmental delay 4/23 (17%). All of the 4 severely affected
children had an isolated ACC, three of them with syndromal genesis.
Conclusion: Children with ACC show a predominantly favourable outcome, nevertheless severe developmental
disorders can occur. Associated CNS malformations are not necessarily associated with
a worse outcome. Developmental disorders in ACC are more related to mental development
than movement disorders. For evidence-based prenatal counseling of pregnant women,
different subgroups must be consistently classified and prospective studies are needed.
References
1. D’Antonio F, Pagani G, Familiari A, et al. Outcomes associated with isolated agenesis
of the corpus callosum: a meta-analysis. Pediatrics 2016;138(3):e20160445 10.1542/peds.2016-0445
2. D’Antonio F, Pagani G, Familiari A, et al. Outcomes associated with isolated agenesis
of the corpus callosum: a meta-analysis. Pediatrics 2016;138(3):e20160445 10.1542/peds.2016-0445
