title: Emerging neuroimaging contribution to the diagnosis and management of the ring chromosome 20 syndrome.
abstract: Ring chromosome 20 [r(20)] syndrome is an underdiagnosed chromosomal anomaly characterized by severe epilepsy, behavioral problems, and mild-to-moderate cognitive deficits. Since the cognitive and behavioral decline follows seizure onset, this syndrome has been proposed as an epileptic encephalopathy (EE). The recent overwhelming development of advanced neuroimaging techniques has opened a new era in the investigation of the brain networks subserving the EEs. In particular, functional neuroimaging tools are well suited to show alterations related to epileptiform discharges at the network level and to build hypotheses about the mechanisms underlying the cognitive disruption observed in these conditions. This paper reviews the brain circuits and their disruption as revealed by functional neuroimaging studies in patients with [r(20)] syndrome. It discusses the clinical consequences of the neuroimaging findings on the management of patients with [r(20)] syndrome, including their impact to an earlier diagnosis of this disorder. Based on the available lines of evidences, [r(20)] syndrome is characterized by interictal and ictal dysfunctions within basal ganglia-prefrontal lobe networks and by long-lasting effects of the peculiar theta-delta rhythm, which represents an EEG marker of the syndrome on integrated brain networks that subserve cognitive functions.
authors.affiliation: Department of Biomedical, Metabolic, and Neural Science, University of Modena and Reggio Emilia, Modena, Italy; N.O.C.S.A.E. Hospital, ASL Modena, Italy.
authors.forename: Anna Elisabetta
authors.initials: AE
authors.lastname: Vaudano
authors.affiliation: Department of Biomedical, Metabolic, and Neural Science, University of Modena and Reggio Emilia, Modena, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Ruggieri
authors.affiliation: Department of Health Sciences, Epilepsy Centre, San Paolo Hospital, University of Milan, Italy.
authors.forename: Aglaia
authors.initials: A
authors.lastname: Vignoli
authors.affiliation: Department of Health Sciences, Epilepsy Centre, San Paolo Hospital, University of Milan, Italy.
authors.forename: Maria Paola
authors.initials: MP
authors.lastname: Canevini
authors.affiliation: Department of Biomedical, Metabolic, and Neural Science, University of Modena and Reggio Emilia, Modena, Italy; N.O.C.S.A.E. Hospital, ASL Modena, Italy. Electronic address: stefano.meletti@unimore.it.
authors.forename: Stefano
authors.initials: S
authors.lastname: Meletti
mesh_terms: D001921:Brain / Q000503:physiopathology*; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000503:physiopathology / Q000628:therapy; D002890:Chromosomes, Human, Pair 20; D019468:Disease Management; D004569:Electroencephalography / Q000379:methods; D004827:Epilepsy / Q000175:diagnosis* / Q000503:physiopathology / Q000628:therapy; D059907:Functional Neuroimaging; D006801:Humans; D012303:Ring Chromosomes; D013577:Syndrome
keywords: Behavior; EEG–fMRI; Epileptic encephalopathy; Functional neuroimaging techniques; PET; Ring 20 syndrome; SPECT