Outcomes Associated With Isolated Agenesis of the Corpus Callosum: A Meta-analysis

Abstract

CONTEXT: Antenatal counseling in cases of agenesis of the corpus callosum (ACC) is challenging. OBJECTIVES:To ascertain the outcome in fetuses with isolated complete ACC and partial ACC.DATA SOURCES: Medline, Embase, CINAHL, and Cochrane databases. STUDY SELECTION:Studies reporting a prenatal diagnosis of ACC. The outcomes observed were: chromosomal abnormalities at standard karyotype and chromosomal microarray (CMA) analysis, additional anomalies detected only at prenatal MRI and at postnatal imaging or clinical evaluation, concordance between prenatal and postnatal diagnosis and neurodevelopmental outcome.DATA EXTRACTION: Meta-analyses of proportions were used to combine data. RESULTS:Twenty-seven studies were included. In cACC, chromosomal anomalies occurred in 4.81% (95% confidence interval [CI], 2.2-8.4) of the cases. Gross and fine motor control were abnormal in 4.40% (95% CI, 0.6-11.3) and 10.98% (95% CI, 4.1-20.6) of the cases, respectively, whereas 6.80% (95% CI, 1.7-14.9) presented with epilepsy. Abnormal cognitive status occurred in 15.16% (95% CI, 6.9-25.9) of cases. In partial ACC, the rate of chromosomal anomalies was 7.45% (95% CI, 2.0-15.9). Fine motor control was affected in 11.74% (95% CI, 0.9-32.1) of the cases, and 16.11% (95% CI, 2.5-38.2) presented with epilepsy. Cognitive status was affected in 17.25% (95% CI, 3.0-39.7) of cases.LIMITATIONS: Different neurodevelopmental tools and time of follow-up of the included studies.CONCLUSIONS: Children wih a prenatal diagnosis of isolated ACC show several degrees of impairment in motor control, coordination, language, and cognitive status. However, in view of the large heterogeneity in outcomes measures, time at follow-up, and neurodevelopmental tools used, large prospective studies are needed to ascertain the actual occurrence of neuropsychological morbidity of children with isolated ACC.

A Neuropsychological Profile for Agenesis of the Corpus Callosum? Cognitive, Academic, Executive, Social, and Behavioral Functioning in School-Age Children

“…Analyses revealed that some risk factors were important predictors for specific aspects of neuropsychological functioning, even after Bonferroni correction (p<.006), (Bedeschi et al, 2006;D'Antonio et al, 2016;Moutard et al, 2003;Shevell, 2002;Siffredi et al, 2017). This study provides the first comprehensive report of general intellectual, academic, executive, behavioral and social functioning in a cohort of school-age children presenting for clinical services to a hospital and diagnosed with AgCC confirmed on MRI.…”

DCCmutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome

“…MRI is considered the gold standard for the diagnosis of ACC because of its superior sensitivity and ability to differentiate iACC and complex ACC (ACC with additional brain abnormalities) (Rapp et al., ; Tercanli & Prufer, ; Wright, Sibley, & Baker, ). The distinction of the latter is important in a prenatal setting as individuals with iACC generally have a favorable developmental outcome compared with those with complex ACC (D'Antonio et al., ; des Portes et al., ; Edwards, Sherr, Barkovich, & Richards, ; Sotiriadis & Makrydimas, ). Likewise, individuals with DCC ‐iACC have a favorable developmental outcome while individuals with DSBS have a poor developmental outcome.…”

Brain Lesions in Children with Unilateral Spastic Cerebral Palsy

“…ACC is not indicative for seizure disorder, more often additional malformations of cortical development are causal. Microstructural CC abnormalities are detected by advanced imaging techniques and they constitute a part of diffuse white matter disturbance (12)(13)(14). In our study, there were 3 patients with ACC, two of them had epilepsy and all three of them were intellectually disabled.…”