Diagnosis Of Epilepsy Syndrome Research Articles

Prenatal, Perinatal And Postnatal Risk Factors From Mother And Child To The Incidence Of Epilepsy

BACKGROUND: Epilepsy is a health problem that affects sufferers and their families, characterized by at least two seizures without provocation with an interval of more than 24 hours between seizures, one seizure without provocation with the possibility of recurring within 10 years, a diagnosis of epilepsy syndrome has been established. The risk of epilepsy can be influenced by the condition of the mother and child in the prenatal, perinatal and postnatal periods. AIMS: This study analyzed the risks of several prenatal, perinatal, and postnatal factors of mother and child as risk factors for epilepsy incidence. METHOD: A case control study was conducted at RSUP Dr. Kariadi Semarang from July 2022 to March 2023. A total of 90 eligible subjects were divided into 45 case with epilepsy and 45 control with a non-epileptic diagnosis. Inclusion criteria were aged over 17 years to 40 years and exclusion criteria were subjects with mothers who had died or could not be interviewed, data were incomplete and had structural brain disorders or other diseases with clinical symptoms of seizures for the control group. The data obtained were analyzed using chi squares test for bivariate association, followed by multivariate analysis with multiple logistic regression. RESULT: Maternal age during pregnancy (p=0.016), low birth weight (p=0.007), surgical birth (p=0.004), head trauma at the age of less than 6 years (p=0.008) have been shown to influence the occurrence of epilepsy with significance respectively. CONCLUSION: Prenatal factors of the mother which is maternal age during pregnancy, perinatal and postnatal factors of the child which are low birth weight, surgical birth, and head trauma at the age of less than 6 years are risk factors that influence the occurrence of adulthood epilepsy.

Applicability of the International League Against Epilepsy (ILAE) 2022 diagnostic criteria for epilepsy syndromes in children: A retrospective review of 1550 children with epilepsy

ObjectiveRecently, the ILAE Nosology and Definitions Task Force defined diagnostic criteria for epilepsy syndromes. There is paucity of data on the use of these new diagnostic criteria in children with epilepsy, and how these criteria may lead to changes from previous practice. MethodsThis was a retrospective chart review of data of children attending the epilepsy clinic in a tertiary care children's hospital from January 2011 to January 2023. The clinical details such as age at onset, types of seizures, co-morbidities, and results of EEG, MRI and genetic testing were reviewed. Epilepsy syndrome diagnosis was made as per the ILAE 2022 criteria, and compared with the previous syndrome diagnosis as per records. ResultsData from 1550 children (63 % boys) with epilepsy were analysed, and 55.4 % children were classified to have epilepsy syndromes as per the new ILAE 2022 diagnostic criteria. Application of the new 2022 ILAE diagnostic criteria was associated with a change in name alone in 676 (77.8 %) children. Hundred (11.5 %) children were newly classified under an epilepsy syndrome who had previously remained unclassified. Eleven (1.3 %) children who were previously classified into an epilepsy syndrome could not be classified using the new diagnostic criteria. Eight (0.9 %) were shifted to a new syndromic category. Overall, change in diagnosis occurred in 13.7 (11.5 + 1.3 + 0.9)%. No change in epilepsy syndrome classification/nomenclature occurred in 74 (8.5 %) children. SignificanceThe new diagnostic criteria led to an overall change in diagnosis in 13.7 % of children with epilepsy. These criteria will hopefully lead to uniformity in diagnosis of epilepsy syndromes across diverse settings.

Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.

The application of genomic technologies has led to unraveling of the complex genetic landscape of disorders of epilepsy, gaining insights into their underlying disease mechanisms, aiding precision medicine, and providing informed genetic counseling. We herein present the phenotypic and genotypic insights from 142 Indian families with epilepsy with or without comorbidities. Based on the electroclinical findings, epilepsy syndrome diagnosis could be made in 44% (63/142) of the families adopting the latest proposal for the classification by the ILAE task force (2022). Of these, 95% (60/63) of the families exhibited syndromes with developmental epileptic encephalopathy or progressive neurological deterioration. A definitive molecular diagnosis was achieved in 74 of 142 (52%) families. Infantile-onset epilepsy was noted in 81% of these families (61/74). Fifty-five monogenic, four chromosomal, and one imprinting disorder were identified in 74 families. The genetic variants included 65 (96%) single-nucleotide variants/small insertion-deletions, 1 (2%) copy-number variant, and 1 (2%) triplet-repeat expansion in 53 epilepsy-associated genes causing monogenic disorders. Of these, 35 (52%) variants were novel. Therapeutic implications were noted in 51% of families (38/74) with definitive diagnosis. Forty-one out of 66 families with monogenic disorders exhibited autosomal recessive and inherited autosomal dominant disorders with high risk of recurrence.

Exploring individual fixel-based white matter abnormalities in epilepsy.

Diffusion MRI has provided insight into the widespread structural connectivity changes that characterize epilepsies. Although syndrome-specific white matter abnormalities have been demonstrated, studies to date have predominantly relied on statistical comparisons between patient and control groups. For diffusion MRI techniques to be of clinical value, they should be able to detect white matter microstructural changes in individual patients. In this study, we apply an individualized approach to a technique known as fixel-based analysis, to examine fibre-tract-specific abnormalities in individuals with epilepsy. We explore the potential clinical value of this individualized fixel-based approach in epilepsy patients with differing syndromic diagnoses. Diffusion MRI data from 90 neurologically healthy control participants and 10 patients with epilepsy (temporal lobe epilepsy, progressive myoclonus epilepsy, and Dravet Syndrome, malformations of cortical development) were included in this study. Measures of fibre density and cross-section were extracted for all participants across brain white matter fixels, and mean values were computed within select tracts-of-interest. Scanner harmonized and normalized data were then used to compute Z-scores for individual patients with epilepsy. White matter abnormalities were observed in distinct patterns in individual patients with epilepsy, both at the tract and fixel level. For patients with specific epilepsy syndromes, the detected white matter abnormalities were in line with expected syndrome-specific clinical phenotypes. In patients with lesional epilepsies (e.g. hippocampal sclerosis, periventricular nodular heterotopia, and bottom-of-sulcus dysplasia), white matter abnormalities were spatially concordant with lesion location. This proof-of-principle study demonstrates the clinical potential of translating advanced diffusion MRI methodology to individual-patient-level use in epilepsy. This technique could be useful both in aiding diagnosis of specific epilepsy syndromes, and in localizing structural abnormalities, and is readily amenable to other neurological disorders. We have included code and data for this study so that individualized white matter changes can be explored robustly in larger cohorts in future work.

The next generation sequencing among epileptic children in Erbil city, Kurdistan region, Iraq

Background and objective: Causes of epilepsy are different and the genetic component is hidden and provides an essential role in emergence of drug resist epilepsy .The aim of this study is to know the diagnostic yield of Whole exome sequence in pediatric epilepsy and its contribution in giving information about diagnosis of the epilepsy syndrome, possible preventive actions or treatment. Methods: 60 children (6 weeks - 14 year) with drug resistant epilepsy, family history of epilepsy or child with diagnosis of epilepsy syndrome were enrolled in this cross sectional study. The study was done in Raparin pediatric teaching hospital in Erbil city from beginning of May 2021 to the end of April 2022.Demographic, clinical, MRI finding and genetic background using whole exome sequence were checked and analyzed. Results: 33/60 (55%) of participants were male. The NGS (Next Generation sequence) study revealed: 13 (21%) pathogenic, 10 (17%) likely pathogenic, 21 (35%) variance of unknown significance and 16 (27%) negative result. The diagnostic yield by NGS for pathogenic or likely pathogenic is 38%. The positive findings were more relevant among female (P value = 0.04), children with age onset of seizure≤ 1 year of (P value = 001) and history of lack of sleep (P value = 0.02). Genetic diagnosis lead to change of treatment in 11/60 (18.3%) candidates. Conclusion: The diagnostic genetic test by NGS is relevant in epileptic child especially among children with age of onset of seizure ≤ 1 year, sex, and lack of sleep. It is recommended to test the negative result periodically and more research to investigate impact of NGS on seizure freedom.

Electroencephalography-functional magnetic resonance imaging for clinical evaluation in focal epilepsy.

We aimed to evaluate the contribution of simultaneous recording of electroencephalography-functional magnetic resonance imaging (EEG-fMRI) in the diagnosis of epilepsy syndrome, localization of the epileptogenic zone (EZ), and decision-making regarding surgical treatment. We performed a retrospective study to evaluate patients with focal epilepsy who underwent EEG-fMRI. Two evaluators assessed epilepsy syndrome, presumed focus, and surgical candidacy and defined confidence levels. They assessed these clinical characteristics first without EEG-fMRI and then including EEG-fMRI to assess how the results of EEG-fMRI changed the evaluations. We also determined how the clinical evaluation was affected by the concordance level between the blood oxygen level-dependent (BOLD) response and the presumed focus location, and by the confidence level of the BOLD response itself based on the t-value of the primary and secondary clusters. Fifty-one scans from 48 patients were included. The BOLD map affected 66.7% of the evaluations by altering evaluation items (epilepsy syndrome, presumed focus, or surgical candidacy) or their confidence levels. EEG-fMRI results increased the confidence levels of epilepsy syndrome, presumed focus, or surgical candidacy in 47.1% of patients but reduced clinical confidence in these features in 11.8%. More specifically, the confidence levels increased for epilepsy syndrome in 28.5%, identification of presumed focus in 33.9%, and determination of surgical candidacy in 29.4%. The BOLD signal confidence level, whether high or low, did not influence these clinical factors. Previous studies have emphasized the utility of EEG-fMRI for the localization of the epileptogenic zone. This study demonstrated the potential of EEG-fMRI to influence clinical confidence when determining epilepsy syndrome, the presumed epileptic focus, and surgical candidacy.

Epilepsy and nodding syndrome in association with an Onchocerca volvulus infection drive distinct immune profile patterns.

Previous studies have described the association of onchocerciasis (caused by Onchocerca volvulus) with epilepsy, including nodding syndrome, although a clear etiological link is still missing. Cases are found in different African countries (Tanzania, South Sudan, Uganda, Democratic Republic of the Congo, Central African Republic and Cameroon). In our study we investigated immunological parameters (cytokine, chemokine, immunoglobulin levels) in individuals from the Mahenge area, Tanzania, presenting with either epilepsy or nodding syndrome with or without O. volvulus infection and compared them to O. volvulus negative individuals from the same endemic area lacking neurological disorders. Additionally, cell differentiation was performed using blood smears and systemic levels of neurodegeneration markers, leiomodin-1 and N-acetyltyramine-O, β-glucuronide (NATOG) were determined. Our findings revealed that cytokines, most chemokines and neurodegeneration markers were comparable between both groups presenting with epilepsy or nodding syndrome. However, we observed elevated eosinophil percentages within the O. volvulus positive epilepsy/nodding syndrome patients accompanied with increased eosinophilic cationic protein (ECP) and antigen-specific IgG levels in comparison to those without an O. volvulus infection. Furthermore, highest levels of NATOG were found in O. volvulus positive nodding syndrome patients. These findings highlight that the detection of distinct biomarkers might be useful for a differential diagnosis of epilepsy and nodding syndrome in O. volvulus endemic areas. Trial-registration: NCT03653975.

Regional Scalp EEGs Analysis and Classification on Typical Childhood Epilepsy Syndromes

Epilepsy syndromes are typical childhood nervous system diseases, that may include different types of epilepsy seizures commonly seen, but far more complex than seizures. Accurate classification of epilepsy syndromes is crucial for diagnosis and treatment. Scalp electroencephalogram (EEG) provides a favorable basis for clinical diagnosis of epilepsy syndrome. In this paper, we present a comprehensive analysis on the correlation between time/frequency-domain regional scalp EEG features and typical epilepsy syndromes, and proposes a transfer network-based classification model for epilepsy syndromes. Results on 63 children suffered from 4 typical epilepsy syndromes and 19 children from the normal control groups (NCGs) show that: 1) The features of the frontal polar region and the frontal region are always very similar, and the parietal region and the occipital region have similar features for each syndrome; 2) Skewness is the most significant feature and Lemp-Ziv complexity (LZC) has the least contribution to distinguishing childhood epilepsy syndromes/NCGs; 3) Different individuals of the same syndrome have similarities, while the EEG characteristics of different syndromes are significantly different. A ResNet50 model based on deep transfer feature learning is applied to perform epilepsy syndromes/NCGs classification. The results show that feature selection based on the feature significance testing and correlation analysis can well enhance the classification performance.

Immune Mechanisms in Epileptogenesis: Update on Diagnosis and Treatment of Autoimmune Epilepsy Syndromes.

Seizures and epilepsy can result from various aetiologies, yet the underlying cause of several epileptic syndromes remains unclear. In that regard, autoimmune-mediated pathophysiological mechanisms have been gaining attention in the past years and were included as one of the six aetiologies of seizures in the most recent classification of the International League Against Epilepsy. The increasing number of anti-neuronal antibodies identified in patients with encephalitic disorders has contributed to the establishment of an immune-mediated pathophysiology in many cases of unclear aetiology of epileptic syndromes. Yet only a small number of patients with autoimmune encephalitis develop epilepsy in the proper sense where the brain transforms into a state where it will acquire the enduring propensity to produce seizures if it is not hindered by interventions. Hence, the term autoimmune epilepsy is often wrongfully used in the context of autoimmune encephalitis since most of the seizures are acute encephalitis-associated and will abate as soon as the encephalitis is in remission. Given the overlapping clinical presentation of immune-mediated seizures originating from different aetiologies, a clear distinction among the aetiological entities is crucial when it comes to discussing pathophysiological mechanisms, therapeutic options, and long-term prognosis of patients. Moreover, a rapid and accurate identification of patients with immune-mediated epilepsy syndromes is required to ensure an early targeted treatment and, thereby, improve clinical outcome. In this article, we review our current understanding of pathogenesis and critically discuss current and potential novel treatment options for seizures and epilepsy syndromes of underlying or suspected immune-mediated origin. We further outline the challenges in proper terminology.

Rates of rare copy number variants in different circumstances among patients with genetic developmental and epileptic encephalopathy.

Most patients with developmental and epileptic encephalopathy (DEE) have genetic etiology, which has been uncovered with different methods. Although chromosomal microarray analysis (CMA) has been broadly used in patients with DEE, data is still limited. Among 560 children (<18 years) who underwent CMA in our hospital between January 2013 and June 2021, 146 patients with developmental delay and recurrent seizures were screened. Patients with major brain abnormalities, metabolic abnormalities, and specific syndromes were excluded. The rate of rare copy number variants (CNVs) was estimated in total and according to seizure-onset age, relation to first seizure with the diagnosis of developmental delay, epilepsy syndromes, and organ anomalies. Among the 110 patients enrolled, the rate of rare CNVs was 16.4%, varying by seizure-onset age: 33.3% in three neonates, 21.2% in 33 infants, 13.3% in 45 early childhood patients, 5.3% in 19 late childhood patients, and 30.0% in 10 adolescents. In relation to the first seizure with the diagnosis of developmental delay, the rates were 3.7%, 22.2%, and 12.5% in "before", "after", and "concurrent" subclasses, respectively. The rates of rare CNVs were 16.7% in "other predominantly focal or multifocal epilepsy", 28.6% in "other predominantly generalized epilepsy (PGE)", and 15.4% in West syndrome. The rates were 27.8% in minor brain anomalies, 37.5% in facial dysmorphism, and 22.2%, 20.0%, and 57.1% in endocrine, genitourinary and cardiovascular anomalies, respectively. The rate of rare CNVs in patients with genetic DEE was 16.4% in total, which was higher in seizures occurring below the infantile period or after the diagnosis of developmental delay, in PGE, and in the presence of facial dysmorphism or cardiovascular anomalies.

Evaluation of Eeg Pattern and Seizure Types of Genetic Dysmorphic Syndromes: Report of 50 Patients and Review of the Literature

Many chromosomal anomalies manifest with epilepsy. Only few typical EEG and seizure type have been identified in genetic syndromes. Identification of typical seizure and EEG findings of certain genetic syndromes may serve as a guide for genetic analysis. This study aims to find typical EEG paterns of spesific genetic syndromes. The study enrolled 50 patients aged 0-16 years with a diagnosis of epilepsy and genetic syndrome in between 2014-2017 at the Dr. Behçet UZ Children’s Hospital Pediatric Neurology and Medical Genetics departments. Patients' characteristics and dysmorphic features were retrieved from Medical Genetic outpatient clinic patient files, while seizure type, epileptic syndromic classification, EEG and brain MRI findings, age at onset and frequency of seizure were determined from pediatric neurology follow-ups. Fifty patients (29 girls) with a mean age of 6.52 ±3.67 years (max=16, min=1) were enrolled. Twenty-two patients had microdeletion-duplication (44%), 12 had chromosomal anomalies (24%) and 16 had monogenic syndrome (32%). Pathology was present in the EEGs of 40 patients (80%). Focal epileptic disorder was determined in 28 subjects (56%), epileptic encephalopathy in 7 (14%), and generalized epileptic disorder in 5 (10%) Identification of seizure type and EEG pattern specific to each genetic dysmorphic syndrome may give clues to clinicians in recognizing these syndromes. However, in order to detect other specific EEG patterns, there is a need for multicentre studies with more patients.

Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency

We report a patient with profound congenital hypotonia, central hypoventilation, poor visual behaviour with retinal hypopigmentation, and significantly decreased mitochondrial respiratory chain complex I activity in muscle, who died at 7 months of age having made minimal developmental progress. Biallelic predicted truncating P4HTM variants were identified following trio whole-genome sequencing, consistent with a diagnosis of hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy and eye abnormalities (HIDEA) syndrome. Very few patients with HIDEA syndrome have been reported previously and mitochondrial abnormalities were observed in three of four previous cases who had a muscle biopsy, suggesting the possibility that HIDEA syndrome represents a primary mitochondrial disorder. P4HTM encodes a transmembrane prolyl 4-hydroxylase with putative targets including hypoxia inducible factors, RNA polymerase II and activating transcription factor 4, which has been implicated in the integrated stress response observed in cell and animal models of mitochondrial disease, and may explain the mitochondrial dysfunction observed in HIDEA syndrome.

Clinical profile and treatment outcome of epilepsy syndromes in children: A hospital-based study in Eastern Nepal.

ObjectiveIt is often difficult to diagnose epilepsy syndromes in resource‐limited settings. This study was aimed to investigate the prospect of ascertaining the diagnosis, clinical profile, and treatment outcomes of epilepsy syndromes (ESs) among children in a resource‐limited setting.MethodsThis was a descriptive study done from 01/07/2009 to 15/06/2017 among children (1‐17 years of age) with unprovoked seizures presenting to the pediatric neurology clinic of a university hospital in eastern Nepal. Diagnosis, classification, and treatment of seizures were based upon International League Against Epilepsy guidelines.ResultsOf 768 children with unprovoked seizures, 120 (15.6%) were diagnosed as ES. The age of onset of seizure was unique for each ES. Developmental delay and cerebral palsy were present in 47.5% and 28.3% children, respectively. Common ESs were West syndrome (WS)‐26.7%, generalized tonic‐clonic seizures alone (GTCSA)‐21.7%, self‐limited childhood epilepsy with centrotemporal spikes (SLCECTS)‐12.5%, childhood absence epilepsy (CAE)‐10.0%, Lennox‐Gastaut syndrome (LGS)‐10.0%, other developmental and epileptic encephalopathies (DEE)‐5.8%, self‐limited familial infantile epilepsy (SLFIE)‐4.2%, and juvenile myoclonic epilepsy (JME)‐3.3%. Among children with known outcomes (87/120), overall response to pharmacotherapy and to monotherapy was observed in 72.4% (63/87) and 57.5% (50/87) children, respectively. All children with GTCSA, SLFIE, genetic epilepsy with febrile seizure plus (GEFS+), CAE, SLCECTS, and JME responded to pharmacotherapy and they had normal computerized tomography scans of the brain. Seizures were largely pharmaco‐resistant in progressive myoclonus epilepsy (PME)‐100.0%, LGS‐73.0%, WS‐52.0%, and other DEEs‐40%.SignificanceA reasonable proportion (15.6%) of unprovoked seizures could be classified into specific ES despite limited diagnostic resources. WS was the most common ES. GTCSA, SLCECTS, CAE, and LGS were other common ESs. GTCSA, SLFIE, CAE, SLCECTS, GEFS+, and JME were largely pharmaco‐responsive. PME, WS, and LGS were relatively pharmaco‐resistant. Electro‐clinical diagnosis of certain ES avoids the necessity of neuroimaging.

Intervención terapéutica del fenómeno de normalización forzada: un estudio de caso clínico

La psicosis en la epilepsia es un síndrome asociado a una actividad eléctrica cerebral paroxística según su aparición temporal. Cuando los síntomas psicóticos aparecen de forma paradójica después de la desaparición o compensación de la actividad epileptogénica se conoce como: fenómeno de normalización forzada (FNF), esta condición es poco común y dificulta su identificación, tratamiento y seguimiento médico. En el presente estudio se describe el caso clínico de una persona de sexo femenina de 63 años de edad, con historia epiléptica de 46 años de data, quien acude a consulta de emergencia con el diagnóstico de epilepsia refractaria y síndrome cerebeloso. Durante el internamiento presenta un cuadro psicótico reincidente, que se identifica como FNF, se logra tratar de forma exitosa posterior a la prescripción antipsicótica con risperidona matutina 0,5-1mg/día y nocturna de 2mg/día, luego se le otorga el alta médica.

Genetic generalized and focal epilepsy prevalence in the North American SUDEP Registry.

ObjectiveTo assess relative rates and clinical features of patients with genetic generalized epilepsy (GGE), focal epilepsy (FE), and developmental encephalopathic epilepsy (DEE) in the North American SUDEP Registry (NASR).MethodsWe identified all adjudicated definite, definite plus, and probable sudden unexpected death in epilepsy (SUDEP) cases (n = 262) and determined epilepsy type (GGE, FE, or DEE) from medical record review including history, imaging and EEG results, genetics, and next-of-kin interviews.ResultsOf the 262 SUDEP cases, 41 occurred in GGE, 95 in FE, 24 in DEE, and 102 were unclassifiable. GGE cases comprised 26% of NASR cases with an epilepsy syndrome diagnosis. The relative frequency of FE:GGE was slightly lower (2.3:1) than in population cohorts (2.1–6:1). Compared to patients with FE, patients with GGE had similar (1) ages at death and epilepsy onset and rates of (2) terminal and historical antiseizure medication adherence; (3) abnormal cardiac pathology; (4) illicit drug/alcohol use histories; and (5) sleep state when SUDEP occurred.ConclusionsGGE cases were relatively overrepresented in NASR. Because GGEs are less often treatment-resistant than FE or DEE, seizure type rather than frequency may be critical. Many people with GGE predominantly have generalized tonic-clonic seizures (GTCS) when they have uncontrolled or breakthrough seizures, whereas patients with FE more commonly experience milder seizures. Future mechanistic SUDEP studies should assess primary and focal-to-bilateral GTCS to identify potential differences in postictal autonomic and arousal disorders and to determine the differential role that lifestyle factors have on breakthrough seizures and seizure types in GGE vs FE to effectively target SUDEP mechanisms and prevention.

Can commercially available wearable EEG devices be used for diagnostic purposes? An explorative pilot study

Electroencephalography (EEG) is a core element in the diagnosis of epilepsy syndromes and can help to monitor antiseizure treatment. Mobile EEG (mEEG) devices are increasingly available on the consumer market and may offer easier access to EEG recordings especially in rural or resource-poor areas. The usefulness of consumer-grade devices for clinical purposes is still underinvestigated. Here, we compared EEG traces of a commercially available mEEG device (Emotiv EPOC) to a simultaneously recorded clinical video EEG (vEEG). Twenty-two adult patients (11 female, mean age 40.2 years) undergoing noninvasive vEEG monitoring for clinical purposes were prospectively enrolled. The EEG recordings were evaluated by 10 independent raters with unmodifiable view settings. The individual evaluations were compared with respect to the presence of abnormal EEG findings (regional slowing, epileptiform potentials, seizure pattern). Video EEG yielded a sensitivity of 56% and specificity of 88% for abnormal EEG findings, whereas mEEG reached 39% and 85%, respectively. Interrater reliability coefficients were better in vEEG as compared to mEEG (ϰ = 0.50 vs. 0.30), corresponding to a moderate and fair agreement. Intrarater reliability between mEEG and vEEG evaluations of simultaneous recordings of a given participant was moderate (ϰ = 0.48). Given the limitations of our exploratory pilot study, our results suggest that vEEG is superior to mEEG, but that mEEG can be helpful for diagnostic purposes. We present the first quantitative comparison of simultaneously acquired clinical and mobile consumer-grade EEG for a clinical use-case.

Diagnosis and treatment of 12 cases of febrile infection-related epilepsy syndrome

Objective To investigate the clinical features, diagnosis and treatment of febrile infection-related epilepsy syndrome (FIRES). Methods The clinical data of 12 children with FIRES admitted to Xiangya Hospital of Central South University from 2015 to 2018 were retrospectively analyzed. The basic information, clinical manifestations, electroencephalogram, imaging examination, treatment and prognosis were analyzed. Results Of the 12 patients, 7 were male and 5 were female. The age of onset was (7.0±3.7)years (1.3 year to 13 years). The average hospitalization time (34-86 days, median 52 days). Twelve patients were healthy before the disease, and had fever before convulsion. The interval between fever and seizure was (3.5±1.7)days (1-7 days). The status epilepticus and consciousness deficit were the main clinical manifestations. The electrogram of 8 patients showed status epilepticus when admitted. 12 patients had disturbance of consciousness; the acute episodes were focal seizures (100%, 12/12) and generalized tonic-clonic seizures (41.7%, 5/12). All patients used 3-5 antiepileptic drugs (median 4), all treated with hormones and gamma globulin. 4 patients with ketogenic diet (KD) were treated within 2 weeks of onset, and the average duration from onset to electroencephalogram (EEG) improvement was (19.2±5.0)days. In 8 patients who did not use KD within 2 weeks of onset, the average duration from onset to EEG improvement was (29.9±9.6)days. Conclusions FIRES is more common in normal children with school age. The main manifestation is refractory status epilepticus in the days after acute fever, focal episodes of seizures, anti-epileptic drug resistance. Early initiation of KD produces a favorable prognosis. Key words: Acute febrile encephalopathy; Status epilepticus; Drug resistant epilepsy; Ketogenic diet; Child

The Role of EEG in the Diagnosis and Classification of Epilepsy Syndromes: A Tool for Clinical Practice by the ILAE Neurophysiology Task Force

The Role of EEG in the Diagnosis and Classification of Epilepsy Syndromes: A Tool for Clinical Practice by the ILAE Neurophysiology Task Force

Epidemiology of children with epilepsy at a tertiary referral centre in South Africa

PurposeThis retrospective observational hospital-based study assessed the characteristics of children with epilepsy in a sub-Saharan African tertiary service over a 10-year period. MethodsChildren with a primary or secondary diagnosis of epilepsy seen during the study period were identified from the departmental database. Demographic and clinical data were collected from the database and available medical records. ResultsOf 4701 children managed in the neurology service, 2407 children (51%) had epilepsy. The 2017 International League Against Epilepsy Classification of the Epilepsies was used to ascribe seizure and epilepsy type, epilepsy syndrome diagnosis and aetiologic categories. Forty-three percent of children had seizure onset before age one year. Focal Epilepsy occurred in 48% of the cohort (n = 1145). Twenty-five percent had an epilepsy syndrome diagnosis. Most children (54%) had epilepsy of unknown aetiology. Among those with underlying non-genetic aetiologies (33%), sequelae of intracranial infections, perinatal insults and structural brain malformations were most prevalent. Motor disability was present in 24% of children. Seventy-four percent had at least one associated motor disability, intellectual or learning disability, developmental delay or psychiatric comorbidity. ConclusionEpilepsy is common in sub-Saharan Africa. Many affected children have avoidable aetiologies. Compared to data from similar hospital-based studies in poorly resourced and resource-equipped settings, our cohort had a higher proportion of seizure onset below the age of one year and a greater number of infectious aetiologies, which is similar to population-based studies reported in sub-Saharan Africa. The presence of comorbidities is significant and demands greater advocacy for services for these children.

Profile of Childhood Epilepsies and Syndromes Seen in an Electrophysiology Laboratory in Southeast Nigeria

Background: Epilepsy and other seizure disorders are highly prevalent in resource-poor countries. Electroencephalogram (EEG) plays an invaluable role in differentiating seizure types, epilepsy syndromes and choice of appropriate anti-epileptic drugs. This is critical for effective management of epilepsies including their prognostication. The profile of childhood epilepsies in our locality is unknown. This study was therefore carried out to ascertain the prevalent electro-clinical syndromes and epilepsy types, etiological factors and co-morbid conditions in children who had EEG in Owerri, Southeast Nigeria. Methods: The clinical data including the Basic Data Sheet and EEG records of all children with epilepsy seen between January 2017 and December 2018 at the EEG Unit/Child Neurology Clinic of Mother Healthcare Diagnostics & Hospital, Owerri were retrospectively reviewed. Relevant data from each patien t’s clinical history, physical examination, investigation findings and EEG diagnosis of seizure type and epilepsy syndrome were extracted and recorded. Results: Out of 97 children with epilepsy, 57 were males and 40 were females giving an male/female (M/F) ratio of 1.4:1. Focal epilepsy (31%) was the most frequent epilepsy type, while benign rolandic epilepsy (BRE) (14%) was the most common epilepsy syndrome seen. West syndrome was the second most prevalent epilepsy syndrome. Epilepsy was of genetic etiology in 48 (50%) and 22 (23%) had a history of severe perinatal asphyxia. No co-morbidity was detected in 70 (72%) patients but among those with co-morbidity, communication disorder (12.4%) was the most frequent. Conclusions: Focal epilepsies and syndromes of genetic etiology were the more prevalent epilepsy types and syndromes in our locality. Majority of the children had no co-morbid conditions but most of those with co-morbidity would require speech therapy. Epileptic encephalopathies were also frequent and this underscores the need to prevent severe perinatal asphyxia and central nervous system (CNS) infections. Int J Clin Pediatr. 2019;8(2):32-36 doi: https://doi.org/10.14740/ijcp344