title: Mental retardation and epilepsy in patients with isolated cerebellar hypoplasia.
abstract: Congenital nonprogressive cerebellar ataxia includes a complex group of disorders with heterogeneous phenotypic and etiopathogenetic characteristics. Despite recent advances in the understanding of the role of the cerebellum in cognition and behavior, the opinion that the clinical presentation of congenital cerebellar diseases is principally linked to motor dysfunction is common. This is largely due to the lack of well-organized epidemiologic studies on the prevalence of nonmotor disturbances in cerebellar disease. The association between congenital cerebellar disease and epilepsy has rarely been described. We report clinical, neurophysiologic, neuroimaging, and neuropsychologic features in a group of 14 patients with congenital nonprogressive cerebellar ataxia associated with cerebellar hypoplasia, 5 of whom have familial disease, aiming to further a better knowledge of the prevalence of cognitive and/or emotional impairment and epilepsy. The results confirm that cerebellar hypoplasia predisposes individuals to psychomotor delay (71.4%) and cognitive impairment (85.7%). Moreover, the tendency toward abnormal electroencephalographic (EEG) findings (78.5%), associated in a minor percentage of cases with epilepsy (28.5%), is also evident in our study.
authors.affiliation: Department of Neurological and Psychiatric Sciences, Child Neuropsychiatric Service, University of Bari, Piazza Giulio Cesare, 70124 Bari, Italy.
authors.forename: Patrizia
authors.initials: P
authors.lastname: Ventura
authors.forename: Anna
authors.initials: A
authors.lastname: Presicci
authors.forename: Tommaso
authors.initials: T
authors.lastname: Perniola
authors.forename: Maria Gloria
authors.initials: MG
authors.lastname: Campa
authors.forename: Lucia
authors.initials: L
authors.lastname: Margari
mesh_terms: D000293:Adolescent; D000328:Adult; D000647:Amnesia / Q000150:complications / Q000473:pathology; D001259:Ataxia / Q000150:complications* / Q000151:congenital / Q000473:pathology; D001284:Atrophy; D002526:Cerebellar Diseases / Q000150:complications* / Q000151:congenital / Q000473:pathology; D002531:Cerebellum / Q000002:abnormalities / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003072:Cognition Disorders / Q000150:complications / Q000473:pathology; D002658:Developmental Disabilities / Q000150:complications* / Q000473:pathology; D004569:Electroencephalography; D004827:Epilepsy / Q000150:complications* / Q000473:pathology; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000473:pathology; D008297:Male; D011596:Psychomotor Disorders / Q000150:complications* / Q000473:pathology; D012189:Retrospective Studies