scholarly journals Polysomnographic Findings in Fragile X Syndrome Children with EEG Abnormalities

2019 ◽  
Vol 2019 ◽  
pp. 1-8 ◽  
Author(s):  
Marco Carotenuto ◽  
Michele Roccella ◽  
Francesco Pisani ◽  
Sara Matricardi ◽  
Alberto Verrotti ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Sleep Disturbances ◽  
Fragile X ◽  
Genetic Syndrome ◽  
Sharp Waves ◽  
Epileptiform Discharges ◽  
Interictal Epileptiform Discharges ◽  
Excitatory Pathways ◽  
Eeg Abnormalities ◽  
Recorded Data

Fragile X syndrome (FXS) is a genetic syndrome with intellectual disability due to the loss of expression of the FMR1 gene located on chromosome X (Xq27.3). This mutation can suppress the fragile X mental retardation protein (FMRP) with an impact on synaptic functioning and neuronal plasticity. Among associated sign and symptoms of this genetic condition, sleep disturbances have been already described, but few polysomnographic reports in pediatric age have been reported. This multicenter case-control study is aimed at assessing the sleep macrostructure and at analyzing the presence of EEG abnormalities in a cohort of FXS children. We enrolled children with FXS and, as controls, children with typical development. All subjects underwent at least 1 overnight polysomnographic recording (PSG). All recorded data obtained from patients and controls were compared. In children with FXS, all PSG-recorded parameters resulted pathological values compared to those obtained from controls, and in FXS children only, we recorded interictal epileptiform discharges (IEDs), as diffuse or focal spikes and sharp waves, usually singles or in brief runs with intermittent or occasional incidence. A possible link between IEDs and alterations in the circadian sleep-wake cycle may suggest a common dysregulation of the balance between inhibitory and excitatory pathways in these patients. The alteration in sleep pattern in children with FXS may negatively impact the neuropsychological and behavioral functioning, adding increasing burn of the disease on the overall management of these patients. In this regard, treating physicians have to early detect sleep disturbances in their patients for tailored management, in order to prevent adjunctive comorbidities.

scholarly journals The PDE10A Inhibitor TAK-063 Reverses Sound-Evoked EEG Abnormalities in a Mouse Model of Fragile X Syndrome

2021 ◽  
Author(s):  
Carrie R. Jonak ◽  
Manbir S. Sandhu ◽  
Samantha A. Assad ◽  
Jacqueline A. Barbosa ◽  
Mahindra Makhija ◽  
...  
Keyword(s):  
Mouse Model ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Eeg Abnormalities

scholarly journals Interictal discharges spread along local recurrent networks between tubers and surrounding cortex

2019 ◽  
Author(s):  
S Tumpa ◽  
R Thornton ◽  
M Tisdall ◽  
T Baldeweg ◽  
KJ Friston ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Epilepsy Surgery ◽  
Local Network ◽  
Neural Mass Model ◽  
Model Parameters ◽  
Epileptiform Discharges ◽  
Interictal Epileptiform Discharges ◽  
Eeg Abnormalities ◽  
Neural Mass ◽  
Interictal Discharges

AbstractThe presence of interictal epileptiform discharges on electroencephalography (EEG) may indicate increased epileptic seizure risk and on invasive EEG are the signature of the irritative zone. In highly epileptogenic lesions – such as cortical tubers in tuberous sclerosis – these discharges can be recorded with intracranial stereotactic EEG as part of the evaluation for epilepsy surgery. Yet the network mechanisms that underwrite the generation and spread of these discharges remain poorly understood, limiting their current diagnostic use.Here, we investigate the dynamics of interictal epileptiform discharges using a combination of quantitative analysis of invasive EEG recordings and mesoscale neural mass modelling of cortical dynamics. We first characterise spatially organised local dynamics of discharges recorded from 36 separate tubers in 8 patients with tuberous sclerosis. We characterise these dynamics with a set of competing explanatory network models using dynamic causal modelling. Bayesian model comparison of plausible network architectures suggests that the recurrent coupling between neuronal populations within – and adjacent to – the tuber core explains the travelling wave dynamics observed in these patient recordings.Our results – based on interictal activity – unify competing theories about the pathological organisation of epileptic foci and surrounding cortex in patients with tuberous sclerosis. Coupled oscillator dynamics have previously been used to describe ictal activity, where fast travelling ictal discharges are commonly observed within the recruited seizure network. The interictal data analysed here add the insight that this functional architecture is already established in the interictal state. This links observations of interictal EEG abnormalities directly to pathological network coupling in epilepsy, with possible implications for epilepsy surgery approaches in tuberous sclerosis.Significance StatementInterictal epileptiform discharges (IEDs) are clinically important markers of an epileptic brain. Here we link local IED spread to network coupling through a combination of clinical recordings in paediatric patients with tuberous sclerosis complex, quantitative EEG analysis of interictal discharges spread, and Bayesian inference on coupled neural mass model parameters. We show that the kinds of interictal discharges seen in our patients require recurrent local network coupling extending beyond the putative seizure focus and that in fact only those recurrent coupled networks can support seizure-like and interictal dynamics when run in simulation. Our findings provide a novel integrated perspective on emergent epileptic dynamics in human patients.

scholarly journals Quantitative Measure to Differentiate Wicket Spike from Interictal Epileptiform Discharges

2021 ◽  
Vol 4 (1) ◽  
pp. 14-22
Author(s):  
Suryani Gunadharma ◽  
Ahmad Rizal ◽  
Rovina Ruslami ◽  
Tri Hanggono Achmad ◽  
See Siew Ju ◽  
...  
Keyword(s):  
Discriminant Analysis ◽  
Linear Discriminant Analysis ◽  
Quantitative Measure ◽  
Linear Discriminant ◽  
Sharp Waves ◽  
Epileptiform Discharges ◽  
Interictal Epileptiform Discharges ◽  
Temporal Location ◽  
Eeg Recordings ◽  
Excellent Accuracy

A number of benign EEG patterns are often misinterpreted as interictal epileptiform discharges (IEDs) because of their epileptiform appearances, one of them is wicket spike. Differentiating wicket spike from IEDs may help in preventing epilepsy misdiagnosis. The temporal location of IEDs and wicket spike were chosen from 143 EEG recordings. Amplitude, duration and angles were measured from the wave triangles and were used as the variables. In this study, linear discriminant analysis is used to create the formula to differentiate wicket spike from IEDs consisting spike and sharp waves. We obtained a formula with excellent accuracy. This study emphasizes the need for objective criteria to distinguish wicket spike from IEDs to avoid misreading of the EEG and misdiagnosis of epilepsy.

How Long Should Routine EEG Be Recorded to Get Relevant Information?

2017 ◽  
Vol 49 (5) ◽  
pp. 335-341
Author(s):  
Hannah Doudoux ◽  
Kristina Skaare ◽  
Thomas Geay ◽  
Philippe Kahane ◽  
Jean L. Bosson ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Relevant Information ◽  
The Other ◽  
Neurologic Manifestation ◽  
Epileptiform Discharges ◽  
Interictal Epileptiform Discharges ◽  
Eeg Abnormalities ◽  
Eeg Recordings ◽  
Time Required ◽  
Over Time

Objective. The optimal duration of routine EEG (rEEG) has not been determined on a clinical basis. This study aims to determine the time required to obtain relevant information during rEEG with respect to the clinical request. Method. All rEEGs performed over 3 months in unselected patients older than 14 years in an academic hospital were analyzed retrospectively. The latency required to obtain relevant information was determined for each rEEG by 2 independent readers blinded to the clinical data. EEG final diagnoses and latencies were analyzed with respect to the main clinical requests: subacute cognitive impairment, spells, transient focal neurologic manifestation or patients referred by epileptologists. Results. From 430 rEEGs performed in the targeted period, 364 were analyzed: 92% of the pathological rEEGs were provided within the first 10 minutes of recording. Slowing background activity was diagnosed from the beginning, whereas interictal epileptiform discharges were recorded over time. Moreover, the time elapsed to demonstrate a pattern differed significantly in the clinical groups: in patients with subacute cognitive impairment, EEG abnormalities appeared within the first 10 minutes, whereas in the other groups, data could be provided over time. Conclusion. Patients with subacute cognitive impairment differed from those in the other groups significantly in the elapsed time required to obtain relevant information during rEEG, suggesting that 10-minute EEG recordings could be sufficient, arguing in favor of individualized rEEG. However, this conclusion does not apply to intensive care unit patients.

EEG abnormalities and seizures in genetically diagnosed Fragile X syndrome

2014 ◽  
Vol 38 (1) ◽  
pp. 155-160 ◽  
Author(s):  
Takijah T. Heard ◽  
Sriram Ramgopal ◽  
Jonathan Picker ◽  
Sharyn A. Lincoln ◽  
Alexander Rotenberg ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Eeg Abnormalities

scholarly journals Gamma power abnormalities in a Fmr1-targeted transgenic rat model of fragile X syndrome

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Naoki Kozono ◽  
Ai Okamura ◽  
Sokichi Honda ◽  
Mitsuyuki Matsumoto ◽  
Takuma Mihara
Keyword(s):  
Fragile X Syndrome ◽  
Fragile X ◽  
Transgenic Rat ◽  
Preclinical Model ◽  
Alpha Power ◽  
Preclinical Research ◽  
Knock Out ◽  
Gamma Frequency ◽  
Eeg Abnormalities ◽  
Gamma Power

Abstract Fragile X syndrome (FXS) is characteristically displayed intellectual disability, hyperactivity, anxiety, and abnormal sensory processing. Electroencephalography (EEG) abnormalities are also observed in subjects with FXS, with many researchers paying attention to these as biomarkers. Despite intensive preclinical research using Fmr1 knock out (KO) mice, an effective treatment for FXS has yet to be developed. Here, we examined Fmr1-targeted transgenic rats (Fmr1-KO rats) as an alternative preclinical model of FXS. We characterized the EEG phenotypes of Fmr1-KO rats by measuring basal EEG power and auditory steady state response (ASSR) to click trains of stimuli at a frequency of 10–80 Hz. Fmr1-KO rats exhibited reduced basal alpha power and enhanced gamma power, and these rats showed enhanced locomotor activity in novel environment. While ASSR clearly peaked at around 40 Hz, both inter-trial coherence (ITC) and event-related spectral perturbation (ERSP) were significantly reduced at the gamma frequency band in Fmr1-KO rats. Fmr1-KO rats showed gamma power abnormalities and behavioral hyperactivity that were consistent with observations reported in mouse models and subjects with FXS. These results suggest that gamma power abnormalities are a translatable biomarker among species and demonstrate the utility of Fmr1-KO rats for investigating drugs for the treatment of FXS.

scholarly journals Fragile X syndrome: clinical, electroencephalographic and neuroimaging characteristics

1998 ◽  
Vol 56 (1) ◽  
pp. 18-23 ◽  
Author(s):  
MARILISA M. GUERREIRO ◽  
EDWALDO E. CAMARGO ◽  
MERY KATO ◽  
ANTONIA P. MARQUES-DE-FARIA ◽  
SYLVIA M. CIASCA ◽  
...  
Keyword(s):  
Fragile X Syndrome ◽  
Single Photon ◽  
Fragile X ◽  
Photon Emission ◽  
Neural Circuitry ◽  
Imaging Studies ◽  
Large Area ◽  
Parietal Lobes ◽  
Epileptiform Discharges ◽  
Attention Disorder

We studied 11 patients (9 males) with cytogenetic diagnosis of fragile X syndrome (FXS) with the purpose of investigating the neural circuitry involved in this condition. The ages ranged from 8 to 19. All the individuals presented large ears, elongated faces and autistic features. Ten patients had severe mental retardation. Attention disorder was found in 10 individuals. Electroencephalographic recordings were abnormal in 6 of 10 patients examined, showing focal epileptiform discharges predominantly in frontal and parietal areas. All patients underwent magnetic resonance imaging studies which were abnormal in 8 of them. The most important abnormalities were reduction of the cerebellar vermis and enlargement of the IV ventricle. Single photon emission computerized tomography (SPECT) was performed in 7 patients and was abnormal in all of them, the most frequent finding being a hypoperfusion of the inferior portions of the frontal lobes. Based on the clinical picture, neuropsychological findings and functional and structural imaging studies we suggest that FXS presents with a dysfunction involving a large area of the central nervous system: cerebellum - basal frontal regions - parietal lobes. The literature points to a disturbance involving the same neural circuitry in patients with autism.

scholarly journals D.05 SREDA-like temporal EEG seizure pattern in LGI1-antibody mediated encephalitis

2016 ◽  
Vol 43 (S2) ◽  
pp. S14-S14
Author(s):  
C Steriade ◽  
S Mirsattari ◽  
BJ Murray ◽  
R Wennberg
Keyword(s):  
Clinical Features ◽  
Temporal Lobe ◽  
Limbic Encephalitis ◽  
Cognitive Symptoms ◽  
Epileptiform Discharges ◽  
Interictal Epileptiform Discharges ◽  
Eeg Abnormalities ◽  
Eeg Data ◽  
Temporal Lobe Seizures ◽  
Eeg Recordings

Background: Leucine-rich glioma inactived-1 (LGI1) antibodies are associated with limbic encephalitis and distinctive seizure types, which are typically immunotherapy-responsive. While nonspecific EEG abnormalities are commonly seen, specific EEG characteristics are not currently understood to be useful for suspecting the clinical diagnosis. Based on initial observations in two patients, we analyzed the EEG recordings in a larger series of patients and describe a novel ictal pattern that can suggest the diagnosis of LGI1-antibody mediated encephalitis, even in the absence of common clinical features. Methods: Clinical and EEG data were collected in nine patients with LGI1 antibodies. Results: Psychiatric and cognitive symptoms were common, as were tonic seizures associated with EEG electrodecremental events (often with the so-called faciobrachial dystonic semiology). A rarity or absence of interictal epileptiform discharges contrasted with frequent subclinical temporal lobe seizures in some patients, which at times showed characteristics similar to subclinical rhythmic electrographic discharges of adults (SREDA), including sensitivity to hyperventilation. Conclusions: LGI1-antibody mediated encephalitis may be associated with tonic seizures and corresponding electrodecremental events, as well as an unusual SREDA-like pattern of frequent subclinical temporal lobe seizures, which may be triggered by hyperventilation, all in the setting of rare interictal epileptiform discharges.

scholarly journals Minocycline Treatment Reverses Sound Evoked EEG Abnormalities in a Mouse Model of Fragile X Syndrome

2020 ◽  
Vol 14 ◽  
Author(s):  
Jonathan W. Lovelace ◽  
Iryna M. Ethell ◽  
Devin K. Binder ◽  
Khaleel A. Razak
Keyword(s):  
Mouse Model ◽  
Fragile X Syndrome ◽  
Fragile X ◽  
Minocycline Treatment ◽  
Eeg Abnormalities

scholarly journals Reiterating the role of corpus callosum in generalization of interictal and ictal epileptiform discharges: a case report with post-callosotomy intracranial electroencephalography in Lennox–Gastaut syndrome

2021 ◽  
Vol 13 (3) ◽  
pp. 249-253
Author(s):  
S. Gopinath ◽  
A. Pillai ◽  
A. G. Diwan ◽  
J. V. Pattisapu ◽  
K. Radhakrishnan
Keyword(s):  
Corpus Callosum ◽  
Epileptic Encephalopathy ◽  
Drop Attacks ◽  
Epileptiform Discharges ◽  
Interictal Epileptiform Discharges ◽  
Eeg Abnormalities ◽  
Before And After ◽  
Intracranial Electroencephalography ◽  
Electroencephalogram Eeg

Lennox–Gastaut syndrome (LGS) is an epileptic encephalopathy characterized by delayed mental development and intractable multiple seizure types, predominantly tonic. Drop attacks are the commonest and the most disabling type of seizures. Resective surgery is often not possible in LGS as the electroencephalogram (EEG) abnormalities are usually multifocal and generalized, and magnetic resonance image is often either normal or multilesional. We report a case of LGS with bilateral parieto-occipital gliosis where EEG before and after callosotomy demonstrated synchronized bilateral interictal epileptiform discharges and ictal discharges becoming desynchronized and running down. This phenomenon emphasizes the role of the corpus callosum in secondary bilateral synchrony.

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