Open AccessLong‐term follow‐up in a cohort of children with isolated corpus callosum agenesis at fetal MRI
Author(s) -
Romaniello Romina,
Arrigoni Filippo,
De Salvo Patrizia,
Bonaglia Maria Clara,
Panzeri Elena,
Bassi Maria Teresa,
Parazzini Cecilia,
Righini Andrea,
Borgatti Renato
Publication year - 2021
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.51484
Subject(s) - medicine , agenesis of the corpus callosum , corpus callosum , neuropsychology , pediatrics , corpus callosum agenesis , cohort , agenesis , magnetic resonance imaging , prenatal diagnosis , intellectual disability , fetus , genetic counseling , intelligence quotient , pregnancy , psychiatry , pathology , cognition , surgery , radiology , genetics , biology
Objective This long‐term retrospective follow‐up study aimed to address the knowledge gap between prenatal diagnosis of complete isolated Agenesis of Corpus Callosum (cACC) at fetal MRI and postnatal neurodevelopmental outcome to improve prenatal counseling for parents. Methods Data on fetuses with isolated cACC from a single‐center MRI database built up in two decades were considered. Detailed postnatal clinical, neuropsychological evaluations were performed and descriptions of available neuroradiological and genetic data were provided. Results Following a detailed neuropsychological evaluation and a long‐term follow‐up, the subsequent results emerged: 38 school‐aged children (older than 6 years) of 50 (aged 2.5‐15 years) showed normal intellectual functions (50%), intellectual disability (21%), and borderline intelligence quotient (29%). Deficits in motor functions (58%), executive functions (37%), language (61%), memory abilities (58%), and academic performances (53%) were found. Twenty‐one percent of participants showed behavioral difficulties. Almost half of the participants underwent rehabilitation. Additional findings (21%) were detected at postnatal brain MRI, and a significant association between additional findings at postnatal imaging and abnormal neurodevelopmental outcome was observed. Interpretations This study supports the view that children with prenatal diagnosis of isolated cACC may present with several degrees of neurologic and neuropsychological impairment which become more evident only in their second decade of life. Postnatal MRI and detailed genetic analysis may add crucial information to prenatal data and substantially influence final judgment on the outcome and orient clinical management and counseling.