TY - JOUR
T1 - Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients with Agenesis of the Corpus Callosum
AU - Romaniello, R.
AU - Marelli, S.
AU - Giorda, R.
AU - Bedeschi, M.F.
AU - Bonaglia, M.C.
AU - Arrigoni, F.
AU - Triulzi, F.
AU - Bassi, M.T.
AU - Borgatti, R.
N1 - Export Date: 31 October 2017
CODEN: JOCNE
Correspondence Address: Borgatti, R.; Neuropsychiatry and Neurorehabilitation Unit, IRCCS Eugenio Medea, Child Neuropsychiatry and Neurorehabilitation, Eugenio Medea Scientific Institute, Via D. L. Monza 20, Italy; email: renato.borgatti@bp.lnf.it
PY - 2017
Y1 - 2017
N2 - 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. © SAGE Publications.
AB - 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. © SAGE Publications.
U2 - 10.1177/0883073816664668
DO - 10.1177/0883073816664668
M3 - Article
VL - 32
SP - 60
EP - 71
JO - Journal of Child Neurology
JF - Journal of Child Neurology
SN - 0883-0738
IS - 1
ER -