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, Romina
AU - Marelli, Susan
AU - Marelli, Sergio
AU - Giorda, Roberto
AU - Bedeschi, Maria F.
AU - Bonaglia, Maria C.
AU - Arrigoni, Filippo
AU - Triulzi, Fabio
AU - Bassi, Maria T.
AU - Borgatti, Renato
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.
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.
KW - Agenesis of the Corpus Callosum
KW - Agenesis of the Corpus Callosum
UR - http://hdl.handle.net/10807/134514
UR - https://www.scopus.com/inward/record.uri?eid=2-s2.0-85006413839&doi=10.1177%2f0883073816664668&partnerid=40&md5=6b6cfcd543ebe3669a1b727b79b9afc8
U2 - 10.1177/0883073816664668
DO - 10.1177/0883073816664668
M3 - Article
SN - 0883-0738
VL - 32
SP - 60
EP - 71
JO - Journal of Child Neurology
JF - Journal of Child Neurology
ER -