EEG Anomalies Research Articles

Comparative analysis of electroencephalogram (EEG) data gathered from the frontal region with other brain regions affected by attention deficit hyperactivity disorder (ADHD) through multiresolution analysis and machine learning techniques

Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by repeated patterns of hyperactivity, impulsivity, and inattention that limit daily functioning and development. Electroencephalography (EEG) anomalies correspond to changes in brain connection and activity. The authors propose utilizing empirical mode decomposition (EMD) and discrete wavelet transform (DWT) for feature extraction and machine learning (ML) algorithms to categorize ADHD and control subjects. For this study, the authors considered freely accessible ADHD data obtained from the IEEE data site. Studies have demonstrated a range of EEG anomalies in ADHD patients, such as variations in power spectra, coherence patterns, and event-related potentials (ERPs). Some of the studies claimed that the brain’s prefrontal cortex and frontal regions collaborate in intricate networks, and disorders in either of them exacerbate the symptoms of ADHD. , Based on the research that claimed the brain’s prefrontal cortex and frontal regions collaborate in intricate networks, and disorders in either of them exacerbate the symptoms of ADHD, the proposed study examines the optimal position of EEG electrode for identifying ADHD and in addition to monitoring accuracy on frontal/ prefrontal and other regions of brain our study also investigates the position groupings that have the highest effect on accurateness in identification of ADHD. The results demonstrate that the dataset classified with AdaBoost provided values for accuracy, precision, specificity, sensitivity, and F1-score as 1.00, 0.70, 0.70, 0.75, and 0.71, respectively, whereas using random forest (RF) it is 0.98, 0.64, 0.60, 0.81, and 0.71, respectively, in detecting ADHD. After detailed analysis, it is observed that the most accurate results included all electrodes. The authors believe the processes can detect various neurodevelopmental problems in children utilizing EEG signals.

An autoencoder model based on one-dimensional neural network for epileptic EEG anomaly detection

We propose an autoencoder model based on a one-dimensional convolutional neural network (1DCNN) as the feature extraction network for efficient detection of epileptic EEG anomalies. The local information of normal EEG signals was captured by utilizing the local feature extraction ability of 1DCNN for training of an autoencoder to learn the expression of normal EEG data in low dimensional feature space. With the difference between the input and output as the anomaly score, the threshold was determined by the optimal equilibrium point of the ROC curve, and the EEG signals exceeding the threshold were diagnosed as the seizure data. The performance of the 1DCNN-AE epilepsy detection model was evaluated using the publicly available CHB-MIT scalp EEG dataset and TUH scalp EEG dataset. The AUC of the 1DCNN-AE model reached 0.890 of CHB-MIT and 0.686 of TUH under the average level of patients, and the epilepsy detection rate reached 0.974 and 0.893, and these results were better than the latest epilepsy anomaly detection models LSTM-VAE and GRU-VAE. The 1DCNN model had a parameter quantity of 58.5M, which was at the same level with LSTM-VAE (47.4 M) and GRU-VAE (36.9 M) but with much smaller FLOPs (0.377 G) than LSTM-VAE (21.6 G) and GRU-VAE (16.2 G). The autoencoder model based one-dimensional convolutional neural network can effectively detect abnormal EEG signals in epileptic seizure.

Resting State EEG Correlates of Suicide Ideation and Suicide Attempt.

Suicide is a global phenomenon that impacts individuals, families, and communities from all income groups and all regions worldwide. While it can be prevented if personalized interventions are implemented, more objective and reliable diagnostic methods are needed to complement interview-based risk assessments. In this context, electroencephalography (EEG) might play a key role. We systematically reviewed EEG resting state studies of adults with suicide ideation (SI) or with a history of suicide attempts (SAs). After searching for relevant studies using the PubMed and Web of Science databases, we applied the PRISMA method to exclude duplicates and studies that did not match our inclusion criteria. The selection process yielded seven studies, which suggest that imbalances in frontal and left temporal brain regions might reflect abnormal activation and correlate with psychological distress. Furthermore, asymmetrical activation in frontal and posterior cortical regions was detected in high-risk depressed persons, although the pattern in the frontal region was inverted in non-depressed persons. The literature reviewed suggests that SI and SA may be driven by separate neural circuits and that high-risk persons can be found within non-depressed populations. More research is needed to develop intelligent algorithms for the automated detection of high-risk EEG anomalies in the general population.

Chiari 1 Malformation and Epilepsy in Children: A Missing Relationship.

Purpose: Once believed a result of pathophysiological correlations, the association between Chiari 1 malformation (CM1) and epilepsy has since been considered as a coincidence, due to missing etiologic or clinical matching points. At present, the problem is being newly debated because of the increasing number of CM1 diagnoses, often among children with seizures. No specific studies on this topic are available yet. The present study aimed at updating the information on this topic by reporting on a series of children specifically enrolled and retrospectively analyzed for this purpose. Methods: All children admitted between January 2015 and June 2020 for epilepsy and CM1 were considered (Group 1). They were compared with children admitted in the same period for symptoms/signs related to CM1 and/or syringomyelia (Group 2). Syndromic patients were excluded, as well as those with tumoral or other overt intracranial lesions. All patients received a complete preoperative work-up, including MRI and EEG. Symptomatic children with CM1/syringomyelia were operated on. The pertinent literature was reviewed. Results: Group 1 was composed of 29 children (mean age: 6.2 years) showing CM1 and epilepsy with several types of seizures. A share of 27% had CM1-related symptoms and syringomyelia. The mean tonsillar ectopia was 7.5 mm. Surgery was performed in 31% of cases. Overall, 62% of children are currently seizure-free (including 5/9 children who were operated on). Tonsillar herniation and syringomyelia regressed in 4/9 cases and 4/8 cases, improved in 4/9 cases and 3/8 cases, and remained stable in 1/9 and 1/8 cases, respectively. CM1 signs/symptoms regressed completely in 6/8 cases and improved or remained stable in one case in each of the two remaining patients. Group 2 consisted of 77 children (mean age: 8.9 years) showing symptoms of CM1 (75%) and/or syringomyelia (39%). The mean tonsillar ectopia was 11.8 mm. Non-specific EEG anomalies were detected in 13 children (17%). Surgery was performed in 76.5% of cases (18 children were not operated on because of oligosymptomatic). Preoperative symptoms regressed in 26%, improved in 50%, remained stable 22%, and worsened in 2%; CM1 radiologically regressed in 39%, improved in 37%, remained unchanged in 22%, and worsened in 2%; and syringomyelia/hydromyelia regressed in 61%, improved in 30%, and was stable in 9%. No statistically significant differences between the two groups were detected regarding the M/F ratio, presence of syringomyelia/hydromyelia, or CM1/syringomyelia outcome; moreover, no correlation occurred between seizure-free condition and PF decompression in Group 1, or between disappearance of EEG anomalies and PF decompression in Group 2. A significant difference between the two groups was noticed regarding the mean age at admission (p = 0.003), amount of tonsillar herniation (p < 0.00001), and PF decompression (p = 0.0001). Conclusions: These findings do not support clinical correlations between CM1 and epilepsy. Their course depends on surgery and antiepileptic drugs, respectively. The analysis of the literature does not provide evidence of a relationship between seizures and cerebellar anomalies such as CM1. Rather than being linked to a syndrome that could explain such an association, the connection between the two now has to be considered to be random.

Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series

Purpose: EEG anomalies and epilepsy are a not so rare clinical manifestation in patients with Phosphatase and tensin homolog (PTEN) variants. The main aim of this study is to analyze the characteristics of EEG traces, neuroimaging findings and epilepsy to better define the neurological aspects in a set of patients with PTEN variants collected in four Italian Centres. As a secondary aim, we describe the neurodevelopmental profile and the psychiatric comorbidities of this cohort.Methods: Patients with PTEN variants, identified by Sanger sequencing or target resequencing, were enrolled. For each subjects, clinical data were retrospectively extracted from medical charts, with a focus on epilepsy and neuroimaging data.Results: 54 patients with PTEN variants were enrolled, with a mean age of 18.8 years. 72.2% have at least one psychiatric diagnosis, being Autism Spectrum Disorder and Intellectual Disability the most frequent diagnosis (29 and 25 cases, respectively). 22 subjects show an abnormal EEG and 8 received a diagnosis of epilepsy, mainly focal epilepsy (7/8), with a mean age at seizure onset of 3.8 years. 3/8 subjects have a drug resistant epilepsy, independently from the underlying neuroimaging pattern. The finding of a Focal cortical dysplasia is significantly associated with both an abnormal EEG (p = 0.02) and the occurrence of seizures (p = 0.002).Conclusion: EEG should be taken into consideration in the first-line diagnostic flowchart of subjects with PTEN variants. The onset of a focal epilepsy, independently from its response to antiepileptic drugs, highly recommends to carry out a neuroimaging exam.

Epilepsy and syncope - A case report and narrative review of arrhythmias connected to temporal lobe epilepsy

We present the case of a 28-years-old male presenting to the Emergency Department for relapsing episodes of “déjà vu” and syncope. After a diagnostic workup by a multidisciplinary team, the simultaneous EEG and ECG monitoring showed an asystole associated with EEG anomalies in right fronto-temporal region of the brain. The brain MRI revealed an ischemic lesion concordant with EEG anomalies. In the suspicion of an ictal asystole, we decided not to implant a permanent pacemaker as the first line therapy but started a targeted anti-epileptic therapy. No more syncopal episodes nor dysrhythmias occurred during recovery and almost two years follow-up.

Lennox-Gastaut and Schizophrenia: Comorbidity or complication?

IntroductionLennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies and represents 1 to 2% of all childhood epilepsies.It is characterized by the occurrence of generalized epileptic seizures, characterized by a particular pattern of the electroencephalogram; slowed mental development and personality disorders.This syndrome appears between the ages of 2 and 7 years, and its management remains difficult, as it is generally refractory to conventional treatment.The long-term prognosis of this syndrome is poor, marked by the presence of periods of regression of cognitive functions, the appearance of frontal or even psychotic signs and extrapyramidal and cerebellar signs.ObjectivesWe will try trow a clinical case, to discuss the evolution of Lennox Gastaut syndrome towards schizophrenia, which remains an infrequent complication, and to determine what would be the adequate management of these patients?MethodsWe report the case of a 16-year-old patient,followed for Lennox Gastaut syndrome since the age of 03, who presented to the psychiatric emergency room for psychomotor agitation, geophagia and altered general condition. The admission interview showed a patient with motor instability, disorganized speech, delusional persecution syndrome, auditory and intrapsychic hallucinations, suicidal ideations in the context of mental automatism, impaired judgment and insight, and insomnia.The blood tests and the brain CT scan came back without any particularities.ResultsThe patient was put on Risperidone, Valproate sodium, Lamotrigine and Clobazam, with good clinical evolution.ConclusionsThe cognitive consequences are catastrophic, 85 to 92% of the patients have a progressive cognitive deterioration, in spite of the reduction of the frequency of the seizures and the improvement of the paroxysmal EEG anomalies.DisclosureNo significant relationships.

Normobaric oxygen may correct chronic cerebral ischemia-mediated EEG anomalies.

AimsTo explore the safety and efficacy of normobaric oxygen (NBO) on correcting chronic cerebral ischemia (CCI) and related EEG anomalies.MethodsThis prospective randomized trial (NCT03745092) enrolled 50 cases of CCI patients, which were divided into NBO (8 L/min of oxygen supplement) group and control group (room air) randomly, and also enrolled 21 healthy volunteers. Two times of 30‐min EEG recordings with the interval of 45min of NBO or room air were analyzed quantitatively.ResultsThe CCI‐mediated EEG presented with two patterns of electrical activities: high‐power oscillations (high‐power EEG, n = 26) and paroxysmal slow activities under the normal‐power background (normal‐power EEG, n = 24). The fronto‐central absolute power (AP) of the beta, alpha, theta, and delta in the high‐power EEG was higher than that in healthy EEG (p < 0.05). The fronto‐central theta/alpha, delta/alpha and (delta + theta)/(alpha + beta) ratios in the normal‐power EEG were higher than those in healthy EEG (p < 0.05). The high‐power EEG in NBO group had higher fronto‐central AP reduction rates than those in control group (p < 0.05). NBO remarkably reduced the fronto‐central theta/alpha, delta/alpha, and (delta + theta)/(alpha + beta) ratios in the normal‐power EEG (p < 0.05).ConclusionsNBO rapidly ameliorates CCI‐mediated EEG anomalies, including attenuation of the abnormal high‐power oscillations and the paroxysmal slow activities associated with CCI.

The Phenotypic Spectrum of 15q13.3 Region Duplications: Report of 5 Patients.

Chromosome 15q13.3 microduplications are associated with a wide spectrum of clinical presentations ranging from normal to different neuropsychiatric conditions, such as developmental delay (DD), intellectual disability (ID), epilepsy, hypotonia, autism spectrum disorders (ASD), attention-deficit hyperactivity disorder, and schizophrenia. The smallest region of overlap for 15q13.3 duplications encompasses the Cholinergic Receptor Nicotinic Alpha 7 Subunit (CHRNA7) gene, a strong candidate for the behavioral abnormalities. We report on a series of five patients with 15q13.3 duplications detected by chromosomal microarray. The size of the duplications ranged from 378 to 537 kb, and involved the CHRNA7 gene in all patients. The most common clinical features, present in all patients, were speech delay, autistic behavior, and muscle hypotonia; DD/ID was present in three patients. One patient presented epileptic seizures; EEG anomalies were observed in three patients. No consistent dysmorphic features were noted. Neuroimaging studies revealed anomalies in two patients: Dandy–Walker malformation and a right temporal cyst. 15q13.3 duplications are associated with various neuropsychiatric features, including speech delay, hypotonia, ASD, and ID, also present in our patient group. Our study brings detailed clinical and molecular data from five ASD patients with 15q13.3 microduplications involving the CHRNA7 gene, contributing to the existing knowledge about the association of 15q13.3 duplications with neuropsychiatric phenotypes.

Syntaxin Binding Protein 1 Related Epilepsies

AbstractSyntaxin binding protein 1 (STXBP1), commonly known as MUNC18–1, is a member of SEC1 family membrane trafficking proteins; their function consists in controlling the soluble N-ethylmaleimide-sensitive factor attachment protein receptors complex assembly, making them essentials regulators of vesicle fusion. The precise function and molecular mechanism through which Munc18–1 contributes to neurotransmitter releasing is not entirely understood, but several evidences suggest its probable role in exocytosis. In 2008, heterozygous de novo mutations in neuronal protein Munc18–1 were first referred as a cause of Ohtahara syndrome development. Currently, a wide examination of the published data proved that 3.1% of patients with severe epilepsy carry a pathogenic de novo mutation including STXBP1 and approximately 10.2% of early onset epileptic encephalopathy is due to an aberrant STXBP1 form codified by the mutated gene. STXBP1 mutations can be associated to a wide clinical heterogeneity. All affected individuals show developmental delay and approximately the 95% of cases have seizures and early onset epileptic encephalopathy, characterized by infantile spasms as the main consistent feature. Burst suppression pattern and hypsarrhythmia are the most frequent EEG anomalies. Other neuronal disorders include Rett syndrome and behavioral and movement disorders. Mild dysmorphic features have been detected in a small number of cases. No genotype–phenotype correlation has been reported. Management of STXBP1 encephalopathy requires a multidisciplinary approach, including epilepsy control and neurological rehabilitation. About 25% of patients are refractory to standard therapy. A single or combined antiepileptic drugs may be required. Several studies described vigabatrin, valproic acid, levetiracetam, topiramate, clobazam, and oxcarbazepine as effective in seizure control. Lamotrigine, zonisamide, and phenobarbital are also commonly used. To date, it remains unclear which therapy is the most effective. Severe morbidity and high mortality are inevitable consequences in some of these patients.

The psychiatric phenotype of 15q11.2-q13.3 duplications

Introduction15q11.2-q13.3 region is prone to genomic rearrangements leading to both deletions and duplications. A wide spectrum of neuropsychiatric conditions, such as developmental delay/intellectual disability (DD/ID), autism, attention-deficit hyperactivity disorder, schizophrenia, epilepsy was reported in association with genomic imbalances of this region.ObjectivesIn this paper we report on 9 children carrying 15q11.2-q13.3 duplications.MethodsSeven boys and two girls, aged 15 months to 15 years, were included in the study. Genomic investigations were carried out by array-based comparative genomic hybridization (Agilent Technologies). In all patients the psychomotor development, dysmorphic features, neuroimaging and EEG anomalies were assessed. Psychologic and psychiatric evaluation was performed with specific tests.ResultsThe size of the duplications ranged from 9.65 Mb to 0.38 Mb. All patients presented speech delay. Autistic behavior and muscular hypotonia were detected in 8 out of 9 patients, DD/ID in 6. Two children presented epileptic seizures, in addition 4 other children had EEG anomalies. Facial dysmorphic features were observed in 5 patients. Neuroimaging studies showed anomalies in 4 children. The smallest region of overlap in our patient group harbors CHRNA7 gene, a candidate for the behavioral abnormalities.Conclusions15q duplications encompassing CHRNA7 gene were associated with different neuropsychiatric features in our patients. Our results further support the association of 15q duplications with neuropsychiatric phenotypes, with clinical heterogeneity and variable severity, which is yet to be explained. Acknowledgment: The research leading to these results has received funding from the EEA RO NO Grant 2014-2021, the project contract No 6/2019.DisclosureNo significant relationships.

Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review

Electroclinical features and outcome of ANKRD11-related KBG syndrome: A novel report and literature review

Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth

BackgroundPyruvoyl Tetrahydropterin Synthase (PTPS) Deficiency is the most common form of BH4 deficiency resulting in hyperphenylalaninemia. It can have variable clinical severity and there is limited information on the clinical presentation, natural history and effectiveness of newborn screening for this condition. MethodsRetrospective data (growth and clinical parameters, biochemical and genetic testing results, treatment) were collected from 19 patients with PTPS deficiency in different centers, to evaluate biochemical and clinical outcomes. Descriptive statistics was used for qualitative variables, while linear regression analysis was used to correlate quantitative variables. ResultsPatients with PTPS deficiency had an increased incidence of prematurity (4/18) with an average gestational age only mildly reduced (37.8 ± 2.4 weeks) and low birth weight (−1.14 ± 0.97 SD below that predicted for gestational age). With time, weight and height approached normal. Values. All patients were identified by newborn screening for an elevated phenylalanine level. However, phenylalanine levels were normal in two whose testing was performed at or before 24 h of age. Sapropterin dihydrochloride treatment normalized phenylalanine levels. Molecular testing identified novel variants in the PTS gene, some of which present in more than one affected family. The neurotransmitter derivatives 5-hydroxyindoleacetic acid (5HIAA) and homovanillic acid (HVA) in the CSF were decreased in most cases except in 2 families with the peripheral form of PTPS deficiency. With time, HVA and 5HIAA became abnormally low in two of these patients requiring therapy. Prolactin (whose secretion is inhibited by dopamine) levels were elevated in several patients with PTPS deficiency and inversely correlated with the z-scores for height (p < 0.01) and weight (p < 0.05). Most patients with PTPS deficiency had delayed development early in life, improving around school age with IQs mostly in the normal range, with a small decline in older individuals. From a neurological standpoint, most patients had normal brain MRI and minor EEG anomalies, although some had persistent neurological symptoms. DiscussionPatients with PTPS deficiency have not only an increased incidence of prematurity, but also decreased birth weight when corrected for gestational age. Hyperphenylalaninemia can be absent in the first day of life. Therapy with sapropterin dihydrochloride normalizes phenylalanine levels and neurotransmitter precursors can improve CSF neurotransmitter metabolites levels. Insufficient dopaminergic stimulation (as seen from elevated prolactin) might result in decreased height in patients with PTPS deficiency. Despite early delays in development, many patients can achieve independence in adult life, with usually normal neuroimaging and EEG.

Nasal pain as an aura: Amygdala origin?

PurposeNasal pain, as an epileptic aura, has been poorly recognized. This study aims to demonstrate clinical features of patients with epilepsy who have nasal pain as an aura. MethodsWe retrospectively investigated consecutive patients who visited the epilepsy clinic of tertiary hospital from April 2000 to September 2019. All included patients underwent epilepsy-dedicated, high-resolution magnetic resonance imaging (MRI) examinations. All MRI studies were analyzed by visual inspection. ResultsSeven patients who presented nasal pain as an aura, were identified. Four patients reported nasal pain as the first aura. Four patients had right amygdala enlargement (isolated amygdala enlargement in three patients; amygdala enlargement in addition to hippocampal sclerosis in one patient), and one patient with compression of an internal carotid-posterior communicating artery aneurysm to right amygdala on brain MRI. Interictal epileptiform or ictal discharges on EEG were found in the right temporal region in five patients. In all four patients with amygdala enlargement, amygdala enlargement was ipsilateral to EEG anomalies. In all patients, nasal pain was accompanied by ictal semiological features, such as autonomic, olfactory, abdominal, or psychic auras, and focal impaired awareness seizures, which are typically associated with mesial temporal lobe epilepsy. ConclusionsOur findings suggest that nasal pain can occur as an epileptic aura in patients with temporal lobe epilepsy with probable involvement of the amygdala.

The Abnormal Detection of Electroencephalogram With Three-Dimensional Deep Convolutional Neural Networks

In this work, we present and evaluate a three dimensional Convolutional Neural Network algorithm to accurately detect EEG abnormalities from multi-channel EEG signals. This research synthesizes several heterogeneous datasets, constructs a dataset 10 times larger than other datasets of its kind, uses all channel EEG signals as input, and preprocesses them into data structures that can reflect EEG spatio-temporal character, constructs and trains a 28-layer deep residual network, automatically extracts high-level features, and recognizes EEG anomalies. We collect and reorganize several heterogeneous data sets, and convert two-dimensional signal segments to three-dimensional frames after preprocessing. Thus we build a dataset of 14049 annotated samples with shape 512*11*11*1, of which 8866 are abnormal. On this dataset, we train a 28-layer convolutional network with residual blocks which classify EEG segments as normal or abnormal. Prediction on independent test sets using this trained model achieved an accuracy of 96.67%. The AUC is 99.93% and the RMSE is 0.0032. We compared the results of several methods and found that 3D frame data structure and deeper CNN model is better. The performance of our model also outperforms other related researches on EEG classification.

Phacomatosis pigmentokeratotica: Two cases series of a neurocutaneous rarity from Indonesia

Phacomatosis pigmentokeratotica (PPK) is a distinct epidermal naevus syndrome. The syndrome is characterized by the coexistence of an organoid naevus with sebaceous differentiation arranged along Blaschko's lines, a papular naevus spilus arranged in a checkerboard pattern, in association with other extracutaneous anomalies. We report on two cases of PPK. The first case was an 11-year-old girl with sebaceous naevus on the right side of the body following the lines of Blaschko present since birth, whereas a papular naevus spilus involving the dorsal area of the neck was noted at 8 years of age. The second case was a 15-year old girl presented with sebaceous naevus on her face and neck and papular naevus spilus involving left side of her chest. Electroencephalography (EEG) of both cases revealed abnormal irritative epileptiform waves, and brain mapping showed symmetrical structures and no focus. The diagnoses of our two cases were based on clinical pictures of the coexistence of sebaceous naevus arranged along Blaschko's lines, a papular naevus spilus arranged in a checkerboard pattern, and EEG anomalies. To our knowledge, these cases were first reported in Indonesia. The association with various extracutaneous manifestation is often, as well as the possibility of malignant transformation.Hence a close follow-up of PPK patients is important, which may help in early recognition of the development of extracutaneous anomalies and the possibility of malignant transformation.

Could Rolandic spikes be a prognostic factor of the neurocognitive outcome of children with BECTS?

IntroductionRolandic epilepsy, also known as benign childhood epilepsy with centrotemporal spikes (BECTS), is one of the most common epileptic syndromes in previously healthy children. Despite what was known about the benignity of this syndrome, there is always more evidence about the involvement of the cognitive functions with different deficits in several domains to be investigated. Aim of the studyThe aim of our study was to describe prognostic electroencephalogram (EEG) pattern of an adverse cognitive development to recognize patients at higher risk of lasting cognitive deficits that could need antiepileptic drugs (AEDs) or an improved neurocognitive therapy. In addition, we wanted to investigate the existence of a possible linkage between the number of interictal epileptiform discharges (IEDs) in the EEG and the more pronounced cognitive deficits. Material and methodsWe performed a case–control study on a cohort of 16 patients (10 male and 6 female) aged 4–14, diagnosed with BECTS who underwent EEG, magnetic resonance imaging (MRI), and neurocognitive assessment at the Pediatric Neurology Unit at the Umberto I Hospital, Sapienza University of Rome. Patients were divided into two groups according to the percentage of IEDs evaluated based on their sleep EEG: group A with less than 50% of the entire EEG invaded by discharges in more than 70% of the total number of EEG performed, so-called with low or intermediate activation. On the contrary, group B had a high activation, with more than 50% of the entire EEG invaded by discharges in the same percentage of the EEG performed. All children were assessed based on a protocol designed to study neuropsychological functions with specific tests chosen depending on age (Wechsler Intelligence Scale for Children IV: WISC IV; Wechsler Preschool and Primary Scale of Intelligence III: WPPSI III). Groups were compared for cognitive outcomes achieved by each patient through Student's t-test with a significance level of p<0.05 (two-tailed). ResultsThere is no statistically significant difference in the cognitive outcomes of these patients: Student's t-test showed a statistical significance (p) for each cognitive index always higher than 0.05, demonstrating that the intellectual quotient (IQ) and all other indexes analyzed (verbal comprehension index (VCI), perceptual reasoning index (PRI), working memory index (WMI), and processing speed index (PSI)) are not affected by the difference in EEG anomalies presented by our patients. Interestingly, all patients had an IQ equal to or greater than the Italian average (12 out of 16 patients showed an IQ>100), with selective drops, particularly significant in the WMI and also in the PSI. ConclusionsOur results clearly demonstrate the importance of a proper evaluation of patients with this kind of epilepsy, without paying attention only to those with the greatest number of IEDs or seizures because all of them had a neurocognitive impairment, especially in memory. These data may be reinforced by a larger sample for an even more significant statistical value. These results also highlight the importance of a neurocognitive therapy for these children to treat for their specific needs.

Parallel Arousal Pathways in the Lateral Hypothalamus.

Until recently, hypocretin (Hcrt) neurons were the only known wake-promoting neuronal population in the lateral hypothalamus (LH), but subpopulations of inhibitory neurons in this area and glutamatergic neurons in the nearby supramammillary nucleus (SuM) have recently been found that also promote wakefulness. We performed chemogenetic excitation of LH neurons in mice and observed increased wakefulness that lasted more than 4 h without unusual behavior or EEG anomalies. The increased wakefulness was similar in the presence or absence of the dual orexin receptor blocker almorexant (ALM). Analysis of hM3Dq transfection and c-FOS expression in LH inhibitory neurons and in the SuM failed to confirm that the increased wakefulness was due to these wake-promoting populations, although this possibility cannot be completely excluded. To evaluate the relationship to the Hcrt system, we repeated the study in Orexin-tTA mice in the presence or absence of dietary doxycycline (DOX), which enabled us to manipulate the percentage of Hcrt neurons that expressed hM3Dq. In DOX-fed mice, 18% of Hcrt neurons as well as many other LH neurons expressed hM3Dq; these mice showed a profound increase in wake after hM3Dq activation even in the presence of ALM. In mice switched to normal chow, 62% of Hcrt neurons expressed hM3Dq along with other LH cells; chemogenetic activation produced even more sustained arousal which could be reduced to previous levels by ALM treatment. Together, these results indicate an LH neuron population that promotes wakefulness through an Hcrt-independent pathway that can act synergistically with the Hcrt system to prolong arousal.

S149 Video-EEG monitoring in young children

Video-EEG monitoring, the synchronous recording of the ictal EEG pattern and the paroxysmal behaviour, is used to confirm the epileptic origine, to classify the seizure type(s) and the electro-clinical syndrome, and to assess seizure frequency and eventual precipitating factors. It is an essential diagnostic procedure in the presurgical evaluation of children with refractory focal epilepsy, in order to establish surgical candidacy, and to define localization and extent of the epileptogenic zone and its relationship to eloquent function. Although it is preferable to record seizures without modifying the anti-seizure medication, treatment reduction may be necessary along with other provocative procedures as i.e. sleep deprivation. Interpretation is based on the seizure semiology, the localization of the onset of the ictal discharge, EEG and clinical symptoms in the postictal phase, and the interictal EEG anomalies. Additional electrodes to the usual 10/20 system may be indicated, particularly important in mesial temporal discharges, using inferior temporal and anterior temporal surface electrodes. Refractory epilepsy in the pediatric population represents a particular challenge because of the wide variety of etiologies compounded to the brain maturation, very fast during infancy and early childhood, leading to a complex evolution of the clinical presentation. Especially genetically determined epilepsies may mimick structural focal epilepsies. Video-EEG recording is still the most widely available and useful test in evaluating the candidacy for a surgical treatment, with however limitations as imprecise localization or inability to detect deep or tangentially orientated foci. Therefore presurgical evaluation is multimodal combining scalp video EEG recording, electrical and magnetic source imaging, anatomical MRI, Arterial Spin Labelling (ASL) MRI, EEG-triggered functional MRI, and FDG-PET studies.

Neurological involvement in hemolytic – Uremic syndrome: our experience at the children’s hospital regina margherita in turin

Objective: The hemolytic-uremic syndrome (HUS) is a clinical triad of microangiopathic hemolytic anemia, impaired renal function and thrombocytopenia, primarily affecting pre- school-aged children. Central nervous system involvement is a severe and not uncommon complication. Our purpose is to describe our records regarding neurological signs and symptoms, their management and outcome. Methods: we describe a small cohort of 10 patients with a diagnosis of hemolit-uremic syndrome (HUS) and neurological involvement admitted from year 2011 throughout 2016 at the Pediatric Hospital “Regina Margherita” in Turin. We analyze clinical features at the onset of HUS, treatment and outcome at the discharge and at follow up. Results: 34 HUS cases were identified. 10 out of 34 presented neurological involvement (30%), characterized by occurrence of seizures, consciousness alterations, dysarthria, dysphagia, nystagmus, focal deficit. 9 cases out of 10 presented prodromal diarrhea (D+HUS), 1 not (D-HUS). Verotoxigenic E.Coli infection was documented in 5 out of 10 cases. EEG anomalies were found in 9 patients: 5 cases needed Antiepileptic drugs. MRI was performed in 8 cases and 4 of them showed abnormal findings. Plasma infusion was utilized in 8 of 10; 6 patients needed dialysis; 2 patients were treated with eculizumab. Conclusion: Neurological involvement in HUS is a severe complication. In our cohort 1 patient out of 10 had a poor outcome while 9 patients had a good outcome at the discharge and at follow up. This underlines the importance of attention on extra-renal manifestations in acute phase and the crucial role of a timely identification and treatment. Our records of neurological involvement and his course appear to be in line with reports from the literature.