Neurodevelopmental outcome in children with a prenatal diagnosis of agenesis of corpus callosum

Abstract

Introduction. Agenesis of the corpus callosum is the most important change in white matter in the human brain. Absence of this structure can cause delayed motor development, mental retardation, seizures, language, or comprehension difficulties, with the progressive onset of autism, schizophrenia, and attention deficit disorders. Objectives. Advances in prenatal imaging techniques have led to a significant increase in the detection rate of agenesis of corpus callosum or associate anomalies – cranial and extracranial. Through this, we can advise parents earlier and check over time the development of affected children. Materials and methods. We studied 23 cases of agenesis of corpus callosum, from which 15 of the women with this fetal diagnosis chose to give birth to 15 live newborns with this pathology, and we started to do follow up on the neurodevelopmental outcome of this children. Results. The outcome of neurological development for people with corpus callosum abnormalities is highly variable and there is often an overlap in neuropsychological performance between patients with complete agenesis and those with partial agenesis of corpus callosum. The 15 children evaluated showed a diverse evolution from normal to severe, with neuro-psychological regression found and proven over time. Conclusions. Given the unexpected shift from normal neurological, motor and cognitive functions to borderline and even severe ones, prenatal counseling regarding the prognosis of this disease is difficult.

Keywords

• agenesis of corpus callosum
• outcome
• malformation
• neurodevelopmental evolution