Uncommon use of intermittent glucose administration for infrequent non-epileptic paroxysmal events in GLUT1-DS.

The ketogenic diet is the treatment of GLUT1 deficiency syndrome that provides an alternative energy source for the brain. However, there are some limitations, including compliance issues as well as patients who do not respond to the ketogenic diet. We report the case of two patients that were not on any particular diet. Both experienced infrequent paroxysmal non-epileptic events (acute ataxia and exercise-induced dystonia). Intermittent glucose intake prior to physical activity for exercise-induced symptoms and at the onset of symptoms for acute ataxia showed consistent and reproducible improvement of the symptoms. Our observations raised the question of developing a new treatment strategy with the induction of a sustained increase in blood glucose. For now, the use of this strategy should be limited to a small group of GLUT1-DS patients who are not on a ketogenic diet.

Non-Epileptic Paroxysmal Events: Clinical features and diagnostic differences with epileptic seizures. A Single Tertiary Centre Study.

BACKGROUND: Non-Epileptic Paroxysmal Events (NEPE) are common clinical manifestations in pediatric age presenting with dysfunction of motor and behavioral activity mimicking features of epileptic seizures. OBJECTIVE: To present and analyze number and clinical characteristic of a group of children/adolescents presenting with various types of NEPE; to compare clinical data of this group of NEPE affected children/adolescents with a group of children/adolescents affected by Epileptic Seizures (ES). METHODS: The retrospective study was conducted at the Pediatric Clinic of University of Catania, Catania, Italy, in a period ranging from January 2005 and January 2018. Two groups of children/adolescents, aged from 1 month to 15 years, were selected: 312 affected by NEPE and 192 by ES. Number and percentage of the single type of NEPE were reported. Then, demographic characteristics, clinical manifestations, duration of the events, time of diagnosis, and age of onset of each type of NEPE and ES affected children/adolescents were analyzed and compared. Results of statistical analysis of the data were carried out between ES and some type of NEPEs including Sandifer syndrome, breath-holding spells, paroxysmal tremors, vertigo, and syncope. RESULTS: Among the group of NEPE, vertigo, type of paroxysmal event clinically not classifiable, syncope, and Sandifer syndrome were the most common events; In the comparative analyzed samples, variability between NEPE and ES was found in the duration of the paroxysmal events, in number of episodes, in lag-time between the onset of symptoms and the diagnosis, and in age of onset. Analyzing clinical data of ES with some type of NEPE, statistical significant results were obtained in vertigo as regards the duration and average duration event, in paroxysmal tremors as number of events, in Sandifer syndrome as lag-time of diagnosis, and finally in all the types of NEPE as regards the age of onset, and loss of consciousness. CONCLUSIONS: Analyzing the clinical features of each type of NEPE differences with ES are found. However, globally considered diagnostic differences between NEPE and ES remain difficult, questionable, and unrealizable without the support of correct parental report, direct clinical observations, and video-EEG monitoring.

Self-Report questionnaires for the diagnosis of psychogenic non-epileptic seizures in clinical practice. A comprehensive review of the available instruments.

We searched Medline from 1946 to 2019 for reports exploring differences between PNES and other comparable paroxysmal events using clinical instruments, few of which focused on the differential diagnosis using broad-based questionnaires covering multiple aspects of this condition. The majority investigated single items to highlight specific differences, either qualitative or quantitative, between groups and to elucidate some of the pathogenetic mechanisms of PNES. We selected all variables that proved to be useful for differentiating PNES from other types of paroxysmal events and classified them by category, by instrument utilized and method of investigation. This body of data will constitute the basis for assembling a new set of evidence-based questionnaires for patients and eyewitnesses to facilitate the differential diagnosis of these disorders, especially in resource-poor clinical settings. This will require a skillful translation of the content of each selected variable into clear and intuitive questions, appropriate for lay responders. Predictive variables found by more than one investigator, especially if using different approaches, have greater diagnostic weight and should be prominent in future questionnaires. However, even variables so far found to be predictive by one investigator will deserve consideration. Once the preliminary text of the questionnaires is consolidated, the instrument will need extensive testing and validation in large prospective studies before becoming available for clinical use in its definitive format.

Utilization of the Patient Competency Rating Scale in an epileptic and non-epileptic veteran population.

Differentiating between epilepsy and psychogenic non-epileptic events (PNEE) can be difficult given similar presentations. PNEE is often misdiagnosed, resulting in unwarranted treatment with anti-epileptic drugs (AED). While the gold standard for differentiating PNEE from epilepsy is video EEG (VEGG) monitoring, self-reported symptomology has also been shown to discriminate between epilepsy and PNEE with high accuracy, particularly in cases where VEEG is difficult to obtain or when there are no observed events during extended monitoring. The Patient Competency Rating Scale (PCRS) was developed to measure the extent to which individuals are able to function in four domains: activities of daily living, emotional, interpersonal, and cognitive competency. Factor analyses validated the underlying factor structure of the PCRS in this seizure disorder sample. Follow-up MANOVA revealed group differences such that those diagnosed with PNEE reported less competence in all areas of functioning as compared to those diagnosed with epilepsy, with the largest difference being emotional competency. Secondary factor analyses were conducted for each diagnostic category. Two items related strongly to emotional competency loaded equally across the factors for those diagnosed with PNEE, indicating that emotional control is highly correlated with all areas of perceived competence for those with PNEE in this sample and may be considered as an intervention target. This was the first study to validate the use of the PCRS for a seizure disorder sample and to examine group differences in self-reported competency between those diagnosed with epilepsy and PNEE.

[Non-paroxysmal disorder in infant]. / Trastornos paroxísticos no epilépticos en el lactante.

Non-epileptic paroxysmal disorders (PNED) are defined as events that mimic epileptic seizures. Its onset is usually sudden and short-lived, caused by brain dysfunction of various origins, but not due to excessive neuronal firing. Its incidence is higher than the epilepsy (10:1). They can occur at any age but are most common in children, especially in the first year of life. The immature nervous system in childhood causes in this period, paroxysmal manifestations that are very diverse and different from other ages. Normal and common paroxysmal disorders in children can mimic epileptic seizures. The first step is to establish a correct diagnosis, if the clinical paroxysmal episode is a seizure or PNED. Differential diagnosis is very broad, especially in the first ages. It's necessary a complete neurological examination in case of doubt and the study should be extended with complementary exams, investigations that in most cases will be normal/negative. In some of them, a genetic basis has been shown. Treatment options are limited and most PNED untreated have a favorable outcome.

Trastornos paroxísticos no epilépticos en el lactante / Non-paroxysmal disorder in infant

Los trastornos paroxísticos no epilépticos (TPNE) se definen como episodios que se repiten periódicamente y que remedan una crisis epiléptica. Su aparición es generalmente brusca y de breve duración, originados por una disfunción cerebral de origen diverso y que no obedecen a una descarga neuronal excesiva (a diferencia de una crisis epiléptica). Su incidencia es diez veces más elevada que la epilepsia y pueden aparecer a cualquier edad, pero son más frecuentes en los primeros años de vida. La inmadurez del sistema nervioso en la infancia hace que en este período las manifestaciones sean muy diversas y diferentes a otras edades. El primer paso para un diagnóstico correcto es un buen interrogatorio y establecer si el episodio puede corresponder a una crisis epiléptica o a un TPNE. El diagnóstico diferencial es muy amplio, especialmente en las primeras edades. Aparte del examen neurológico completo, en caso de duda se debe ampliar el estudio con exámenes complementarios que en la mayoría de las ocasiones serán normales/ negativos. En algunos casos se ha demostrado una base genética. Las opciones terapéuticas son escasas y la mayoría de los TPNE, especialmente en el lactante, desaparecen con la edad sin dejar secuelas.

Non-epileptic paroxysmal disorders (PNED) are defined as events that mimic epileptic seizures. Its onset is usually sudden and short-lived, caused by brain dysfunction of various origins, but not due to excessive neuronal firing. Its incidence is higher than the epilepsy (10:1). They can occur at any age but are most common in children, especially in the first year of life. The immature nervous system in childhood causes in this period, paroxysmal manifestations that are very diverse and different from other ages. Normal and common paroxysmal disorders in children can mimic epileptic seizures. The first step is to establish a correct diagnosis, if the clinical paroxysmal episode is a seizure or PNED. Differential diagnosis is very broad, especially in the first ages. It's necessary a complete neurological examination in case of doubt and the study should be extended with complementary exams, investigations that in most cases will be normal/negative. In some of them, a genetic basis has been shown. Treatment options are limited and most PNED untreated have a favorable outcome.

Paroxysmal non-epileptic events in infants and toddlers: A phenomenologic analysis.

AIM: The aim of this study was to analyze in detail the clinical phenomenology of paroxysmal non-epileptic events (PNEE) in infants and toddlers. METHODS: We studied all children aged ≤2 years who were diagnosed with PNEE based on video-electroencephalographic (VEEG) recordings. We analyzed the following four clinical domains of each clinical event: (i) motor manifestations (body/limb jerking, complex motor, and asymmetric limb posturing); (ii) oral/vocal (crying, vocalization, sighing); (iii) behavioral change (arrest of activity, staring); (iv) and autonomic (facial flushing, breath holding). RESULTS: Thirty-one of 81 (38.3%) infants and toddlers had 38 PNEE recorded during the study period (12 girls and 19 boys, mean age 10.5 months). The predominant clinical features were as follows: motor in 26/38 events, oral/verbal in 14/38 events, behavioral in 11/38 events, and autonomic in 8/38 events. Epileptic seizures and PNEE coexisted in four children (12.9%). Seventeen children (54.8%) had one or more risk factors suggestive of epilepsy. Twelve children (38.7%) had a normal neurologic examination, 10 (32.3%) had developmental delay, and eight (25.8%) had a family history of epilepsy or seizures. CONCLUSION: VEEG recorded PNEE in nearly 40% of 81 infants and toddlers referred for unclear paroxysmal events in our cohort. Non-epileptic staring spells and benign sleep myoclonus were the most common events recorded, followed by shuddering attacks and infantile masturbation. In addition, greater than one-half of the infants and toddlers had risk factors, raising a concern for epilepsy in the family and prompting the VEEG evaluation, suggesting that paroxysmal non-epileptic seizures may frequently coexist in young children with epilepsy.

A neuro-fuzzy system to support in the diagnostic of epileptic events and non-epileptic events using different fuzzy arithmetical operations / Um sistema neuro-difuso para auxiliar no diagnóstico de eventos epilépticos e eventos não epilépticos utilizando diferentes operações aritméticas difusas

OBJECTIVE: To investigate different fuzzy arithmetical operations to support in the diagnostic of epileptic events and non epileptic events. METHOD: A neuro-fuzzy system was developed using the NEFCLASS (NEuro Fuzzy CLASSIfication) architecture and an artificial neural network with backpropagation learning algorithm (ANNB). RESULTS: The study was composed by 244 patients with a bigger frequency of the feminine sex. The number of right decisions at the test phase, obtained by the NEFCLASS and ANNB was 83.60 percent and 90.16 percent, respectively. The best sensibility result was attained by NEFCLASS (84.90 percent); the best specificity result were attained by ANNB with 95.65 percent. CONCLUSION: The proposed neuro-fuzzy system combined the artificial neural network capabilities in the pattern classifications together with the fuzzy logic qualitative approach, leading to a bigger rate of system success.

OBJETIVO: Investigar diferentes operações aritméticas difusas para auxíliar no diagnóstico de eventos epilépticos e eventos não-epilépticos. MÉTODO: Um sistema neuro-difuso foi desenvolvido utilizando a arquitetura NEFCLASS (NEuro Fuzzy CLASSIfication) e uma rede neural artificial com o algoritmo de aprendizagem backpropagation (RNAB). RESULTADOS: A amostra estudada foi de 244 pacientes com maior freqüência no sexo feminino. O número de decisões corretas na fase de teste, obtidas através do NEFCLASS e RNAB foi de 83,60 por cento e 90,16 por cento, respectivamente. O melhor resultado de sensibilidade foi obtido com o NEFCLASS (84,90 por cento); o melhor resultado de especificidade foi obtido com a RNAB (95,65 por cento). CONCLUSÃO: O sistema neuro-difuso proposto combinou a capacidade das redes neurais artificiais na classificação de padrões juntamente com a abordagem qualitativa da logica difusa, levando a maior taxa de acertos do sistema.