The Experts below are selected from a list of 1746 Experts worldwide ranked by ideXlab platform

Anna Elisabetta Vaudano - One of the best experts on this subject based on the ideXlab platform.

  • emerging neuroimaging contribution to the diagnosis and management of the ring chromosome 20 syndrome
    Epilepsy & Behavior, 2015
    Co-Authors: Anna Elisabetta Vaudano, Andrea Ruggieri, Aglaia Vignoli, Maria Paola Canevini, Stefano Meletti
    Abstract:

    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.

  • epilepsy related brain networks in ring chromosome 20 syndrome an eeg fmri study
    Epilepsia, 2014
    Co-Authors: Anna Elisabetta Vaudano, Andrea Ruggieri, Aglaia Vignoli, Pietro Avanzini, Francesca Benuzzi, Giuliana Gessaroli, Paolo Frigio Nichelli, Francesca Darra, Gaetano Cantalupo
    Abstract:

    Summary Objective To identify the brain networks that are involved in the different electroencephalography (EEG) abnormalities in patients with ring chromosome 20 [r(20)] syndrome. We hypothesize the existence of both distinctive and common brain circuits for the paroxysmal high voltage sharp waves (hSWs), the seizures, and the slow-wave 3–7 Hz Rhythm that characterize this condition. Methods Thirteen patients with [r(20)] syndrome were studied by means of EEG simultaneously recorded with functional magnetic resonance imaging (EEG-fMRI). EEG traces were reviewed in order to detect the pathologic interictal (hSWs) and ictal activities; the 3–7 Hz theta-Delta power was derived using a fast Fourier transform. A group-level analysis was performed for each type of EEG abnormality separately using a fixed-effect model and a conjunction analysis. Finally, a second-level random-effect model was applied considering together the different EEG abnormalities, without distinction between hSW, seizures, or theta-Delta Rhythms. Results Subcontinuous theta-Delta Rhythm was recorded in seven patients, seizures in two, and hSWs in three patients. The main results are the following: (1) the slow-wave Rhythm was related to blood oxygen level–dependent (BOLD) increases in the premotor, sensory-motor, and temporoparietal cortex, and to BOLD decrements involving the default mode (DMN) and the dorsal attention networks (DANs); (2) the ictal-related BOLD changes showed an early involvement of the prefrontal lobe; (3) increases in BOLD signal over the basal ganglia, either for interictal and ictal activities, were observed; (4) a common pattern of positive BOLD changes in the bilateral perisylvian regions was found across the different EEG abnormalities. Significance The BOLD increment in the perisylvian network and the decrease of the DMN and DAN could be the expression of the [r(20)] syndrome–related cognitive and behavioral deficits. The observed BOLD patterns are similar to the ones detected in other epileptic encephalopathies, suggesting that different epileptic disorders characterized by neurobehavioral regression are associated with dysfunction in similar brain networks. A PowerPoint slide summarizing this article is available for download in the Supporting Information section here.

Aglaia Vignoli - One of the best experts on this subject based on the ideXlab platform.

  • emerging neuroimaging contribution to the diagnosis and management of the ring chromosome 20 syndrome
    Epilepsy & Behavior, 2015
    Co-Authors: Anna Elisabetta Vaudano, Andrea Ruggieri, Aglaia Vignoli, Maria Paola Canevini, Stefano Meletti
    Abstract:

    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.

  • epilepsy related brain networks in ring chromosome 20 syndrome an eeg fmri study
    Epilepsia, 2014
    Co-Authors: Anna Elisabetta Vaudano, Andrea Ruggieri, Aglaia Vignoli, Pietro Avanzini, Francesca Benuzzi, Giuliana Gessaroli, Paolo Frigio Nichelli, Francesca Darra, Gaetano Cantalupo
    Abstract:

    Summary Objective To identify the brain networks that are involved in the different electroencephalography (EEG) abnormalities in patients with ring chromosome 20 [r(20)] syndrome. We hypothesize the existence of both distinctive and common brain circuits for the paroxysmal high voltage sharp waves (hSWs), the seizures, and the slow-wave 3–7 Hz Rhythm that characterize this condition. Methods Thirteen patients with [r(20)] syndrome were studied by means of EEG simultaneously recorded with functional magnetic resonance imaging (EEG-fMRI). EEG traces were reviewed in order to detect the pathologic interictal (hSWs) and ictal activities; the 3–7 Hz theta-Delta power was derived using a fast Fourier transform. A group-level analysis was performed for each type of EEG abnormality separately using a fixed-effect model and a conjunction analysis. Finally, a second-level random-effect model was applied considering together the different EEG abnormalities, without distinction between hSW, seizures, or theta-Delta Rhythms. Results Subcontinuous theta-Delta Rhythm was recorded in seven patients, seizures in two, and hSWs in three patients. The main results are the following: (1) the slow-wave Rhythm was related to blood oxygen level–dependent (BOLD) increases in the premotor, sensory-motor, and temporoparietal cortex, and to BOLD decrements involving the default mode (DMN) and the dorsal attention networks (DANs); (2) the ictal-related BOLD changes showed an early involvement of the prefrontal lobe; (3) increases in BOLD signal over the basal ganglia, either for interictal and ictal activities, were observed; (4) a common pattern of positive BOLD changes in the bilateral perisylvian regions was found across the different EEG abnormalities. Significance The BOLD increment in the perisylvian network and the decrease of the DMN and DAN could be the expression of the [r(20)] syndrome–related cognitive and behavioral deficits. The observed BOLD patterns are similar to the ones detected in other epileptic encephalopathies, suggesting that different epileptic disorders characterized by neurobehavioral regression are associated with dysfunction in similar brain networks. A PowerPoint slide summarizing this article is available for download in the Supporting Information section here.

Andrea Ruggieri - One of the best experts on this subject based on the ideXlab platform.

  • emerging neuroimaging contribution to the diagnosis and management of the ring chromosome 20 syndrome
    Epilepsy & Behavior, 2015
    Co-Authors: Anna Elisabetta Vaudano, Andrea Ruggieri, Aglaia Vignoli, Maria Paola Canevini, Stefano Meletti
    Abstract:

    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.

  • epilepsy related brain networks in ring chromosome 20 syndrome an eeg fmri study
    Epilepsia, 2014
    Co-Authors: Anna Elisabetta Vaudano, Andrea Ruggieri, Aglaia Vignoli, Pietro Avanzini, Francesca Benuzzi, Giuliana Gessaroli, Paolo Frigio Nichelli, Francesca Darra, Gaetano Cantalupo
    Abstract:

    Summary Objective To identify the brain networks that are involved in the different electroencephalography (EEG) abnormalities in patients with ring chromosome 20 [r(20)] syndrome. We hypothesize the existence of both distinctive and common brain circuits for the paroxysmal high voltage sharp waves (hSWs), the seizures, and the slow-wave 3–7 Hz Rhythm that characterize this condition. Methods Thirteen patients with [r(20)] syndrome were studied by means of EEG simultaneously recorded with functional magnetic resonance imaging (EEG-fMRI). EEG traces were reviewed in order to detect the pathologic interictal (hSWs) and ictal activities; the 3–7 Hz theta-Delta power was derived using a fast Fourier transform. A group-level analysis was performed for each type of EEG abnormality separately using a fixed-effect model and a conjunction analysis. Finally, a second-level random-effect model was applied considering together the different EEG abnormalities, without distinction between hSW, seizures, or theta-Delta Rhythms. Results Subcontinuous theta-Delta Rhythm was recorded in seven patients, seizures in two, and hSWs in three patients. The main results are the following: (1) the slow-wave Rhythm was related to blood oxygen level–dependent (BOLD) increases in the premotor, sensory-motor, and temporoparietal cortex, and to BOLD decrements involving the default mode (DMN) and the dorsal attention networks (DANs); (2) the ictal-related BOLD changes showed an early involvement of the prefrontal lobe; (3) increases in BOLD signal over the basal ganglia, either for interictal and ictal activities, were observed; (4) a common pattern of positive BOLD changes in the bilateral perisylvian regions was found across the different EEG abnormalities. Significance The BOLD increment in the perisylvian network and the decrease of the DMN and DAN could be the expression of the [r(20)] syndrome–related cognitive and behavioral deficits. The observed BOLD patterns are similar to the ones detected in other epileptic encephalopathies, suggesting that different epileptic disorders characterized by neurobehavioral regression are associated with dysfunction in similar brain networks. A PowerPoint slide summarizing this article is available for download in the Supporting Information section here.

Stefano Meletti - One of the best experts on this subject based on the ideXlab platform.

  • emerging neuroimaging contribution to the diagnosis and management of the ring chromosome 20 syndrome
    Epilepsy & Behavior, 2015
    Co-Authors: Anna Elisabetta Vaudano, Andrea Ruggieri, Aglaia Vignoli, Maria Paola Canevini, Stefano Meletti
    Abstract:

    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.

Gaetano Cantalupo - One of the best experts on this subject based on the ideXlab platform.

  • epilepsy related brain networks in ring chromosome 20 syndrome an eeg fmri study
    Epilepsia, 2014
    Co-Authors: Anna Elisabetta Vaudano, Andrea Ruggieri, Aglaia Vignoli, Pietro Avanzini, Francesca Benuzzi, Giuliana Gessaroli, Paolo Frigio Nichelli, Francesca Darra, Gaetano Cantalupo
    Abstract:

    Summary Objective To identify the brain networks that are involved in the different electroencephalography (EEG) abnormalities in patients with ring chromosome 20 [r(20)] syndrome. We hypothesize the existence of both distinctive and common brain circuits for the paroxysmal high voltage sharp waves (hSWs), the seizures, and the slow-wave 3–7 Hz Rhythm that characterize this condition. Methods Thirteen patients with [r(20)] syndrome were studied by means of EEG simultaneously recorded with functional magnetic resonance imaging (EEG-fMRI). EEG traces were reviewed in order to detect the pathologic interictal (hSWs) and ictal activities; the 3–7 Hz theta-Delta power was derived using a fast Fourier transform. A group-level analysis was performed for each type of EEG abnormality separately using a fixed-effect model and a conjunction analysis. Finally, a second-level random-effect model was applied considering together the different EEG abnormalities, without distinction between hSW, seizures, or theta-Delta Rhythms. Results Subcontinuous theta-Delta Rhythm was recorded in seven patients, seizures in two, and hSWs in three patients. The main results are the following: (1) the slow-wave Rhythm was related to blood oxygen level–dependent (BOLD) increases in the premotor, sensory-motor, and temporoparietal cortex, and to BOLD decrements involving the default mode (DMN) and the dorsal attention networks (DANs); (2) the ictal-related BOLD changes showed an early involvement of the prefrontal lobe; (3) increases in BOLD signal over the basal ganglia, either for interictal and ictal activities, were observed; (4) a common pattern of positive BOLD changes in the bilateral perisylvian regions was found across the different EEG abnormalities. Significance The BOLD increment in the perisylvian network and the decrease of the DMN and DAN could be the expression of the [r(20)] syndrome–related cognitive and behavioral deficits. The observed BOLD patterns are similar to the ones detected in other epileptic encephalopathies, suggesting that different epileptic disorders characterized by neurobehavioral regression are associated with dysfunction in similar brain networks. A PowerPoint slide summarizing this article is available for download in the Supporting Information section here.