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Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients With Agenesis of the Corpus Callosum.
- Source :
-
Journal of child neurology [J Child Neurol] 2017 Jan; Vol. 32 (1), pp. 60-71. Date of Electronic Publication: 2016 Sep 29. - Publication Year :
- 2017
-
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.
- Subjects :
- Adolescent
Adult
Agenesis of Corpus Callosum physiopathology
Agenesis of Corpus Callosum psychology
Brain physiopathology
Child
Child, Preschool
Electroencephalography
Epilepsy genetics
Epilepsy physiopathology
Epilepsy psychology
Epilepsy therapy
Female
Follow-Up Studies
Humans
Infant
Male
Severity of Illness Index
Young Adult
Agenesis of Corpus Callosum genetics
Agenesis of Corpus Callosum therapy
Subjects
Details
- Language :
- English
- ISSN :
- 1708-8283
- Volume :
- 32
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Journal of child neurology
- Publication Type :
- Academic Journal
- Accession number :
- 27683483
- Full Text :
- https://doi.org/10.1177/0883073816664668