Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients with Agenesis of the Corpus Callosum

Research output: Contribution to journalArticle

Abstract

To gain a better understanding of the clinical and genetic features associated with agenesis of corpus callosum, we enrolled and characterized 162 patients with complete or partial agenesis of corpus callosum. Clinical and genetic protocols allowed us to categorize patients as syndromic subjects, affected by complex extra-brain malformations, and nonsyndromic subjects without any additional anomalies. We observed slight differences in sex ratio (56% males) and agenesis type (52% complete). Syndromic agenesis of corpus callosum subjects were prevalent (69%). We detected associated cerebral malformations in 48% of patients. Neuromotor impairment, cognitive and language disorders, and epilepsy were frequently present, regardless of the agenesis of corpus callosum subtype. Long-term follow-up allowed us to define additional indicators: syndromic agenesis of corpus callosum plus patients showed the most severe clinical features while isolated complete agenesis of corpus callosum patients had the mildest symptoms, although we observed intellectual disability (64%) and epilepsy (15%) in both categories. We achieved a definitive (clinical and/or genetic) diagnosis in 42% of subjects.

Original languageEnglish
Pages (from-to)60-71
Number of pages12
JournalJournal of Child Neurology
Volume32
Issue number1
DOIs
Publication statusPublished - Jan 1 2017

Keywords

  • array-CGH
  • brain malformations
  • corpus callosum
  • genetic
  • intellectual disability

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

Fingerprint Dive into the research topics of 'Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients with Agenesis of the Corpus Callosum'. Together they form a unique fingerprint.

  • Cite this