Predictors Associated with Motor and Cognitive Impairment in Children with Corpus Callosum Malformation.

Abstract

We aim to identify the associated abnormalities, underlying etiology, and risk factors that may lead to motor/cognitive impairment in children with corpus callosum (CC) malformations. This will provide clinicians with data to predict the prognosis of children with CC malformations in the prenatal and/or neonatal period.Children with agenesis or hypoplasia of any part of the CC on neuroimaging within 11 years at a tertiary care university hospital were retrospectively evaluated for demographic and clinical characteristics, other associated systemic abnormalities, etiologies, and prognosis. Children with a history of hypoxia, intracranial hemorrhage, hydrocephaly, stroke, or brain tumor were excluded. Data analysis was performed with SPSS software. Univariate and multivariate analyses were used to evaluate risk factors for the development of motor/cognitive impairment.A total of 165 children were included, 44% of whom were girls. The most common associated abnormality was ocular. Microcephaly was present in 42% (n = 69). Regarding the genetic etiology, five children were diagnosed by karyotype analysis, two by trinucleotide repeat analysis, one by fluorescence in situ hybridization analysis, seven by array comparative genomic hybridization, 11 by single gene mutations, and 15 by whole-exome sequencing. The presence of microcephaly, epilepsy, abnormal electroencephalogram (EEG) findings, and abnormal neurological examination was associated with the risk of developing both cognitive and motor delay. Involvement of a body part of the CC was slightly associated with the risk of motor delay (p = 0.043).Malformations of the CC can result in varying degrees of neurodevelopmental disability. The presence of microcephaly, epilepsy, abnormal EEG findings, and abnormal neurological examination can be used to predict the outcome.