Cognitive Impairment and Abnormal Behaviour Related to Ring Chromosome 20 Aberration

Gahr, Maximilian; Kerling, Frank; Ludolph, Andrea G.; Plener, Paul L.

doi:10.1007/s10803-011-1346-2

Cited by 6 publications

(9 citation statements)

References 16 publications

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“…24 Accordingly, functional abnormalities in these regions might explain the frequent association of [r (20)] syndrome with language regression, cognitive decline, aggressiveness, attention-deficit hyperactivity, and autistic features that appear after seizure onset. 1,2,25 In this regard the similarities are interesting between our results and the ones obtained in children with electrical status epilepticus during sleep (CSWS). 26 By means of EEG-fMRI coregistration, a common bilateral BOLD increase in the perisylvian regions (plus thalamus and cingulate cortex) was observed in CSWS patients, independent of the etiology and the initial spike focus of the single cases.…”

Section: ] Syndromesupporting

confidence: 82%

Epilepsy‐related brain networks in ring chromosome 20 syndrome: An EEG‐fMRI study

et al. 2014

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SUMMARYObjective: 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 ictalrelated 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.

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Section: ] Syndromesupporting

confidence: 82%

Epilepsy‐related brain networks in ring chromosome 20 syndrome: An EEG‐fMRI study

et al. 2014

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“…La catégorisation des articles qui font l'étude des causes des TGC est deux fois plus élevée pour le modèle médical (9,0 %) que pour le modèle environnemental (4,3 %). Le modèle médical s'intéresse au syndrome de stress post-traumatique (Bakken et al, 2014), aux anomalies chromosomiques (Gahr, Kerling, Ludolph et Plener, 2012), aux facteurs de risques biologiques et environnementaux (Guinchat et al, 2015a;Guinchat et al, 2015b) ainsi qu'aux comorbidités (Turygin, Matson, Adams et Williams, 2014). Le modèle environnemental s'intéresse aux facteurs de prédiction des hospitalisations (Blaskowitz, 2015) et à l'expérience de soutien ressentie par les personnes présentant une DI et manifestant des TGC dans les services qu'ils reçoivent (Griffith et al, 2013).…”

Section: Méthodeunclassified

Modèles D’intervention Médical Et Environnemental Auprès Des Personnes Manifestant Un Trouble Grave Du Comportement, Quelles Sont Les Divergences?

Longtin¹,

Paquet²

2018

rqpsy

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Tous droits réservés © Revue québécoise de psychologie, 2018 Ce document est protégé par la loi sur le droit d'auteur. L'utilisation des services d'Érudit (y compris la reproduction) est assujettie à sa politique d'utilisation que vous pouvez consulter en ligne. https://apropos.erudit.org/fr/usagers/politique-dutilisation/ Cet article est diffusé et préservé par Érudit.Érudit est un consortium interuniversitaire sans but lucratif composé de l

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“…This detrimental effect of epilepsy on cognition is particularly relevant in children carrying [r (20)] syndrome, considering that they are cognitively and behaviorally normal before seizure onset, while some can fall into a severe state characterized by intellective decline, attention deficits, and impaired interpersonal relationship with autistic features after seizure occurrence [1,5,7].…”

Section: Dysfunction Of Physiological Cortical Networkmentioning

confidence: 99%

“…The insular cortices are important parts of neuronal networks of interoception, emotional processing, and social cognition [79,80]. Accordingly, functional abnormalities in these regions might explain the frequent association of [r (20)] syndrome with autistic features that appear after childhood-onset epilepsy [1,3,5,7].…”

Section: Dysfunction Of Physiological Cortical Networkmentioning

confidence: 99%

“…Other types of seizures include ictal affective behaviors (mainly ictal fear-terror) associated with loss of consciousness, automatisms, or tonic activity [1]. Progressive cognitive delay and behavioral problems are frequently described [6], and the latter occasionally dominates the clinical phenotype [7]. Dysmorphic features are mostly absent or mild, hence making the diagnosis difficult, unless there is a high index of suspicion [2,3,8].…”

Section: Introductionmentioning

confidence: 99%

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Emerging neuroimaging contribution to the diagnosis and management of the ring chromosome 20 syndrome

Vaudano

Ruggieri

Canevini

et al. 2015

Epilepsy & Behavior

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Cognitive Impairment and Abnormal Behaviour Related to Ring Chromosome 20 Aberration

Cited by 6 publications

References 16 publications

Epilepsy‐related brain networks in ring chromosome 20 syndrome: An EEG‐fMRI study

Epilepsy‐related brain networks in ring chromosome 20 syndrome: An EEG‐fMRI study

Modèles D’intervention Médical Et Environnemental Auprès Des Personnes Manifestant Un Trouble Grave Du Comportement, Quelles Sont Les Divergences?

Emerging neuroimaging contribution to the diagnosis and management of the ring chromosome 20 syndrome

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