Oral dyspraxia in self-limited epilepsy with centrotemporal spikes: a comparative study with a control group / Dispraxia oral em epilepsia autolimitada com espículas centrotemporais: um estudo comparativo com grupo controle

ABSTRACT Background: self-limited epilepsy with centrotemporal spikes, previously considered benign focal childhood epilepsy with centrotemporal spikes show clinical signs of involvement of Rolandic areas, mainly lower area, which may affect the planning and execution of motor sequences. Objective: This study aimed to evaluated oral praxis in children with self-limited epilepsy with centrotemporal spikes and compare to the age-matched control group. Methods: This was a descriptive study with 74 children with self-limited epilepsy with centrotemporal spikes, with the classical forms according to International League Against Epilepsy, and between 4 and 15 years of age, selected from the child neurology outpatient clinic of the Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil, and 239 age-matched and educational level-matched (convenience sampling) control children. All children were submitted to the battery of oral volitional movements, which consisted of 44 tests for oral movement (tongue, lip, cheek, jaw, and palate) and 34 phonemes and consonant cluster tasks, with simple and sequenced oral movements. Results: The mean age and standard deviation (SD) of children with epilepsy was 9.08 years (SD 2.55) and of controls 9.61 years (SD 3.12). The results showed significant differences between the groups with a poorer performance of children with epilepsy compared to children without epilepsy in simple and particularly in sequenced movements. Conclusion: These findings can be attributed to the genetically determined immaturity of cortical structures related to motor planning in children with self-limited epilepsy with centrotemporal spikes.

RESUMO Antecedentes: Epilepsia autolimitada com descarga centrotemporal, previamente designada por epilepsia benigna focal infantil com espículas centrotemporais, mostra sinais clínicos de envolvimento de áreas rolândicas, principalmente área inferior, que podem afetar o planejamento e a execução de sequências motoras. Objetivo: Este estudo visou avaliar a práxis oral em crianças com epilepsia autolimitada com espículas centrotemporais e comparar com o grupo de controle de mesma idade e grau de escolaridade. Métodos: Tratou-se de um estudo descritivo, com 74 crianças com epilepsia autolimitada com espículas centrotemporais selecionadas no ambulatório de neurologia infantil do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil, e 239 crianças do grupo controle da mesma faixa etária e grau de escolaridade. Todas as crianças foram submetidas à bateria de tarefas de movimento oral volitivo, que inclui movimentos orais simples e sequenciados. Resultados: A idade média das crianças com epilepsia era de 9,08 anos (desvio padrão - DP 2,55) e dos controles 9,61 anos (DP 3,12). Os resultados mostraram diferenças significativas entre os grupos, com desempenho mais fraco das crianças com epilepsia em comparação ao das crianças saudáveis, em movimentos simples e particularmente em movimentos sequenciados. Conclusão: Esses resultados podem ser atribuídos à imaturidade geneticamente determinada das estruturas corticais relacionadas com o planejamento motor em crianças com epilepsia autolimitada com espículas centrotemporais.

A propósito de la denominada epilepsia benigna con puntas centrotemporales (rolándicas) / Apropos the so-called benign epilepsy with centrotemporal spikes (rolandic)

La epilepsia benigna con puntas centrotemporales o rolándicas se caracteriza por crisis parciales motoras en la infancia y un electroencefalograma en que observan descargas de puntas en las regiones centrotemporales medias. Ha sido reconocida como benigna, debido a la ausencia de déficits neurológicos evidentes; sin embargo, en los últimos años en la literatura médica internacional han aparecido varias publicaciones que cuestionan su evolución favorable. El objetivo de este trabajo es actualizar algunos criterios que no concuerdan con el buen pronóstico referido inicialmente. Representa una etapa fundamental en la historia de la epilepsia, debido a que es la primera vez que se describió una epilepsia focal o parcial en la que se presumía que no existía una lesión cortical subyacente. La evolución de esta forma de epilepsia puede mostrar elementos que niegan su benignidad. Se recomienda en un futuro efectuar en nuestro servicio un estudio que confirme los criterios expuestos en la literatura médica internacional(AU)

Benign epilepsy with centrotemporal spikes, aka benign rolandic epilepsy, is characterized by partial motor crisis in childhood and electroencephalography showing point discharges in medial centrotemporal regions. The condition has been recognized as benign due to the absence of evident neurological deficits. However, in recent years several publications have appeared in international medical literature in which its favorable evolution is questioned. The objective of the present study is to update some criteria differing from the good prognosis initially stated. It constitutes a fundamental stage in the history of epilepsy, since for the first time a case of focal or partial epilepsy was being described in which presumably there did not exist an underlying cortical lesion. The evolution of this form of epilepsy may display features denying its benignity. It is recommended that in the future a study be conducted in our service confirming the criteria expounded in international medical literature(AU)

Caracterización de pacientes con Epilepsia Rolándica e identificación de factores de riesgo de evolución atípica / Characterization of Patients with Rolandic Epilepsy and Recognition of Risk Factors for an Atypical Course

La Epilepsia Rolándica (ER) o Epilepsia con espigas centrotemporales, es la epilepsia idiopática más frecuente, focal autolimitada, de buena evolución. Debuta entre los 3 a 13 años, con crisis estereotipadas durante el sueño, al inicio o al despertar, focales motoras y somatosensoriales. El electroencefalograma (EEG) muestra una base normal con actividad epileptiforme interictal centrotemporal, con espigas con escaso desarrollo de onda lenta, uni o bilaterales. Se describe en los últimos años una forma atípica de ER (ERA), asociando otros tipos de crisis, que responden peor a tratamiento, manteniendo crisis, con complicaciones neuropsicológicas asociadas y deterioro del EEG, observándose en algunos casos, actividad, continua o casi continua en sueño. El objetivo de este trabajo es caracterizar a los pacientes con ER que se controlan en Red Salud UC-Christus y describir la presencia de posibles factores de riesgo asociados a la evolución atípica de la ER. 16 pacientes con ER típica y otros 6 con ERA, ambos grupos edad promedio 6 años al debut presentación, de predominio sexo masculino, la mayoría con buen rendimiento escolar y examen neurológico normal. En ER, crisis de predominio focales y base de EEG 62% normal. EEG entre ocasional y muy frecuentes descargas epileptiformes. En ERA, solo un 33% base normal, y predominio crisis generalizadas. Mayoría evoluciona con descargas EEG contínuas o casi continuas en sueño No-REM. Hubo peor respuesta a FAEs en ERA. Concluimos que este estudio es concordante con lo descrito en la literatura actual para pacientes con ER y ERA, por lo que recomendamos considerar la presencia de posibles factores indicadores, iniciales o durante la evolución, de formas atípicas de ER. Palabras Clave: Epilepsia Rolándica, Epilepsia Rolándica atípica, Factores de riesgo de evolución atípica, Espigas centrotemporales, Crisis epilépticas focales.

Abstract: Rolandic Epilepsy (ER) or epilepsy with centrotemporal spikes, is a focal and selflimited epilepsy and it is the most frequent and well-recognized idiopathic epilepsy. It is characterized by an age of presentation between 3 and 13 years, with stereotyped seizures during sleep, at the beginning or on awakening, which can be focal, motor and sensory. The electroencephalogram shows a normal base with interictal epileptiform activity, centrotemporal spikes with poor slow wave development, which can be unilateral o bilateral. In recent years, an atypical presentation of Rolandic Epilepsy (ERA) has been described, with presence of other types of seizures, with poor response to treatment, continued seizures and asso- ciated neuropsychological complications and deterioration of the electroencephalogram, in some cases with continuous or almost continuous activity during sleep. Our work aims to characterize the patients that are controlled in the Red Salud UC-Christus and to describe the presence of possible risk factors associated with the atypical evolution of Rolandic Epilepsy. We studied 16 patients with typical ER and other 6 with ERA, both groups with an age average of 6 years at time of debut presentation, more frequent in males, most with good school performance and normal neurological examination. In ER there were focal prevalence seizures and 62% had an EEG with a normal base. The EEG showed occasional to very frequent epileptiform discharges. In ERA, only 33% of the EEG had a normal base, and it most frequently showed generalized seizure. Most of the patients followed up with continuous or nearly continuous discharges in the EEG during REM sleep. There was worse response to FAEs in ERA. We conclude that this study is consistent with that described in the current literature for patients with ER and ERA, we recommend physicians to consider the presence of possible initial of belated indicators of atypical forms of ER.Key words: Rolandic Epilepsy, atypical Rolandic Epilepsy, risk factors of atypical evolution, centrotemporal spikes, focal seizures.

Working memory and phonological awareness in children with Rolandic Epilepsy / Memoria de trabajo y consciencia fonológica en niños con Epilepsia Rolándica

This study investigated how the difficulties in language in children with Rolandic Epilepsy (RE) could be related to alterations in their development of phonological awareness and/or working memory. We evaluated fourty-two children aged 6 to 13 years old. From these, twenty-one children were diagnosed with RE and formed the experimental group; and twenty-one children without RE, paired with the experimental group by sex, age, education and socioeconomic status, formed the control group. The results showed significant differences in the performances of children with RE and healthy children in the tests that evaluated working memory and phonological awareness. Also, positive and high significant correlations were found between working memory and phonological awareness in the RE clinical subgroup. Generally, the results suggest that compromises in both cognitive functions might be associated to loss of language capabilities in children with RE, and also point that the development of working memory and phonological awareness are interconnected.

En este estudio se investigó cómo las dificultades en el lenguaje en niños con epilepsia Rolandica (ER) podrían estar relacionadas con alteraciones en su desarrollo de la conciencia fonológica y/o memoria de trabajo. Se evaluaron 42 niños de 6 a 13 años de edad. De éstos, 21 niños fueron diagnosticados con ER y formaron el grupo experimental; y 21 niños sin RE, emparejados con el grupo experimental por sexo, edad, nivel educativo y socioeconómico, que formaron el grupo de control. Los resultados mostraron diferencias significativas en los resultados de los niños con ER y niños sanos en las pruebas que evaluaron la memoria de trabajo y la conciencia fonológica. Además, se encontraron correlaciones positivas y altas entre la memoria de trabajo y la conciencia fonológica en el subgrupo clínico RE. En general, los resultados sugieren que los compromisos en ambas funciones cognitivas pueden estar asociados a la pérdida de capacidades del lenguaje en los niños con RE, y también señalan que el desarrollo de la memoria de trabajo y la conciencia fonológica están interconectados.

Estudo prospectivo das funções cognitivas em epilepsia idiopática da infância através da ressonância magnética funcional / Study of cognitive function in idiopathic epilepsy of childhood by functional magnetic resonance imaging

Introdução: Uma importante aplicação da técnica de Ressonância Magnética funcional é em pesquisa clínica, acerca das funções cognitivas de pacientes, como por exemplo atenção, memória, linguagem, dentre outras. Pacientes com Epilepsia Idiopática da Infância podem apresentar déficits cognitivos e não possuem alterações estruturais detectáveis o que facilita a aplicação de técnicas computacionais de registro e normalização em estudos de neuroimagem o que possibilita a geração de imagens de um grupo de indivíduos e suas diversas possibilidades de inferências estatísticas. Este estudo teve como objetivo descrever as funções cognitivas em pacientes com Epilespia Rolândica (ER) e Epilepsia de Ausência (EA) através da RMf. Métodos: 57 indíviduos, 23 pacientes com ER ((média= 10,7 anos), 20 pacientes com EA (média= 9,9 anos) e 14 controles saudáveis (média=10 anos) foram submetidos ao vídeo-EEg, testes neuropsicológicos para avaliação das funções cognitivas (QI, funções executivas, dentre outras) e um paradigma de atenção Stoptask Gonogo e um paradigma Resting State (RS). Os dados foram analisados e foram gerados mapas limirializados de ativação da função BOLD. Resultados: As principais áreas ativas em pacientes e controles no paradigma Stoptask foram: hemisférios cerebelares bilateral, córtex orbito frontal bilateral, giros fusiformes, ínsula bilateral, córtex dorso latero pré-frontal, giro do Cíngulo anterior direito e esquerdo, bordas dos sulcos intraparietais, giros frontais superiores, eye-field.(p < 0,01). No paradigma RS as áreas encontradas foram: Córtex medial prefrontal, giro angular, giro supramarginal, giro do cíngulo posterior, giro frontal superior, sulco intraparietal, área motora suplementar, córtex prefrontal lateral (p < 0,05). OS mapas comparativos de grupos mostraram diferenças em ativaçao entre pacientes e controles. Discussão: Nossos mapas de ativação da resposta BOLD são semelhantes aos encontrados por outros autores na...

Introduction: An important application of functional MRI is in clinical research about the cognitive functions of patients, such as attention, memory, language, among others. Patients with Idiopathic Epilepsy of Childhood may show cognitive deficits and have no detectable structural changes which facilitates the application of computational techniques and standardization of registration in neuroimaging studies, which enables to obtain a group map of individuals and their various possibilities for statistical inferences. This study aimed to describe the cognitive functions in patients with Rolandic Epilepsy (RE) and absence epilepsy (AE) by fMRI. Methods: 57 individuals, 23 patients with RE (mean = 10.7 years), 20 patients with AE (mean = 9.9 years) and 14 healthy controls (mean = 10 years) underwent video-EEG, neuropsychological tests for assessment of cognitive function (IQ, executive functions, amongothers) theu also perform an attention paradigm Stoptask Gonogo and the Resting State (RS). Data were analyzed and maps were generated for BOLD activation function. Results: The main areas active in patients and controls in the paradigm Stoptask were bilateral cerebellar hemispheres, bilateral frontal orbital cortex, fusiform gyrus, bilateral insula, dorsal lateral prefrontal cortex, anterior cingulate gyrus right and left edges of the intraparietal sulcus, superior frontal gyrus, eye -field. (p < 0.01). In the RS paradigm areas observed were: medial prefrontal cortex, angular gyrus, supramarginal gyrus, posterior cingulate gyrus, superior frontal gyrus, intraparietal sulcus, supplementary motor area, lateral prefrontal cortex (p < 0.05). there were no statistically significant differences between group means (p < 0,01)Discussion: Our activation maps of BOLD response are similar to those found by other authors in the literature both in Stoptask paradigm as in the RS. The diferences between groups may be due cognitive deficts in patients group. Conclusions:...

Epilepsia benigna atípica de la infancia con paroxismos centrotemporales: presentación de un caso / Atypical benign epilepsy of childhood with centrotemporal paroxysms: case report

La epilepsia benigna atípica de la infancia con paroxismos centrotemporales es una forma poco frecuente de epilepsia en la que se combinan crisis focales similares a las observadas en la epilepsia benigna de la infancia con paroxismos centrotemporales y crisis generalizadas que además presenta un patrón electroencefalográfico característico de punta-onda continua durante el sueño NREM. Se discute la importancia de la correlación electroclínica en el correcto diagnóstico de la entidad en cuestión así como en su adecuado manejo y evaluación pronóstica.

Atypical benign childhood epilepsy with centro-temporal spikes is a rare form of epilepsy that combine partial seizures similar to those seen in benign partial epilepsy of childhood with centro-temporal paroxysms and generalized seizures, also presenting a characteristic EEG pattern of continuous spike-wave during NREM sleep. We discuss the importance of electro-clinical correlation in the correct diagnosis of the disease as well as proper treatment and prognostic assessment.

Sequential motor task (Luria's Fist-Edge-Palm Test) in children with benign focal epilepsy of childhood with centrotemporal spikes / Tarefa motora sequencial (Teste de Lúria punho-lado-palma) em crianças com epilepsia focal benigna da infância com descarga centrotemporal

This study evaluated the sequential motor manual actions in children with benign focal epilepsy of childhood with centrotemporal spikes (BECTS) and compares the results with matched control group, through the application of Luria's fist-edge-palm test. The children with BECTS underwent interictal single photon emission computed tomography (SPECT) and School Performance Test (SPT). Significant difference occurred between the study and control groups for manual motor action through three equal and three different movements. Children with lower school performance had higher error rate in the imitation of hand gestures. Another factor significantly associated with the failure was the abnormality in SPECT. Children with BECTS showed abnormalities in the test that evaluated manual motor programming/planning. This study may suggest that the functional changes related to epileptiform activity in rolandic region interfere with the executive function in children with BECTS.

Esse estudo avaliou ações motoras manuais sequenciais em crianças com epilepsia focal benigna da infância com descarga centrotemporal (EBICT) e comparou os resultados com o grupo controle pareado, através do teste de Lúria (punho-lado-palma). As crianças com EBICT realizaram single photon emission computed tomography (SPECT) interictal e Teste de Desempenho Escolar (TDE). Foram encontradas diferenças significativas entre os dois grupos nas atividades motoras de três movimentos iguais e três movimentos diferentes. As crianças com piores resultados no TDE e com SPECT alterado apresentaram mais erros no teste de imitação manual. Crianças com epilepsia fracassaram nos testes de avaliação motora que envolvem programação/planejamento. Esse estudo sugere que mudanças funcionais relacionadas à atividade epileptiforme na região rolândica interfere com as funções executivas de crianças com EBICT.

Clinical and neuropsychological correlation in patients with rolandic epilepsy / Correlação entre achados clínicos e neuropsicológicos em pacientes com epilepsia rolândica

OBJECTIVES: To evaluate the presence of neurological soft signs (NSS) and to correlate them with the Wechsler Intelligence Scale for Children (WISC III) in patients with rolandic epilepsy (RE). METHODS: Forty children and adolescents aged between 9 and 15 years were studied. They were divided into two groups: G1 - patients with RE (n=20) - and G2 - healthy controls without epilepsy (n=20). They were assessed with the Quick Neurological Screening Test (QNST II) - clinical trial to search for NSS -, and the WISC III - neuropsychological test. RESULTS: No statistical difference between groups was found in WISC III and QNST II. However, children with poorer motor skills had worse performance in the QNST II and also in the execution intelligence quotient - IQ (p=0.001) and in total IQ (p=0.004), thus showing a positive correlation between them. CONCLUSIONS: The QNST II is a good screening tool for the neurologist to detect abnormalities in fine motor skills.

OBJETIVOS: Avaliar a presença de sinais neurológicos menores (SNM) e correlacioná-los com o Escala de Inteligência de Wechsler para Crianças (WISC III) em pacientes com epilepsia rolândica (ER). MÉTODOS: Foram estudados 40 crianças ou adolescentes entre 9 e 15 anos, divididos em dois grupos: G1 - pacientes com ER (n=20); G2 - controles saudáveis sem epilepsia (n=20). Foram avaliados por meio do QNST II - teste clínico que pesquisa SNM - e do WISC III - teste neuropsicológico. RESULTADOS: Não foi encontrada nenhuma diferença estatística entre os grupos no WISC III e QNST II. Entretanto, crianças com habilidades motoras pobres tiveram pior desempenho no QNST II, assim como no quociente de inteligência (QI) de execução (p=0,001) e no QI total (p=0,004), mostrando, portanto, correlação positiva entre os dois instrumentos. CONCLUSÕES: O QNST II é uma boa ferramenta de rastreamento para o neurologista detectar anormalidades nas habilidades motoras finas.

Análisis espectral del electroencefalograma en pacientes con epilepsia rolándica / Spectral analysis of the electroencephalogram in patients with rolandic epilepsy

Objetivo: Describir la presencia de alteraciones de la actividad de base a través del análisis cuantitativo del EEG (QEEG) en pacientes portadores de Epilepsia Rolándica. Material y Método: Se realizó el análisis visual del EEG (29 pacientes) y el QEEG (26 pacientes). Los valores de poder absoluto y poder relativo obtenidos para cada paciente fueron comparados con una base de datos normativos mediante el estadígrafo transformada Z. Resultados: Se encontraron variaciones estadísticamente significativas de energía en 73,08 % de los casos: 73,68 % en las bandas lentas y 26,31 % para las rápidas. La topografía de la actividad lenta fue en regiones centro-temporales y/o centro-parietales 64,28 %, en las regiones anteriores y extratemporales 21,43 % y 14,28 % presentaron actividad lenta aislada extratemporal. Conclusiones: Las alteraciones significativas en la actividad de base electroencefalográfica antes descritas en los pacientes portadores de Epilepsia Rolándica, sugieren una posible relación con un disturbio maduracional o a la presencia de las descargas epileptiformes interictales.

Objective: To describe abnormalities of the background activity by quantitative analysis in patients with Rolandic Epilepsy. Methods: Visual (29 patients) and quantitative EEG (QEEG) (26 patients) analyses were done. Absolute and Relative Power values obtained in the patients were compared with those from a normative database (Z-Maps). Results: Q-EEG results showed a significative changes in a 73,08 % of the patients: 73,68 % in slow frequency and 26,31 % in rapid frequency. A focal significative increase in slow frequency in centro-temporal and/or centro-parietal regions was observed in 64,28 %, in the same regions and extratemporal regions in 21,43 % and only slow activity extratemporal in 14,28 % of the patients. Conclusions: Significative variations in background activity in patients with Rolandic Epilepsy, suggests a possible relation with the presence of interictal epileptiform discharges or a certain age-related functional immaturity.

Benign childhood epilepsy with centrotemporal spikes: word and pseudoword discrimination / Epilepsia benigna da infância com pontas centro-temporais: discriminação entre palavras e pseudopalavras

In the active phase of benign childhood epilepsy with centro-temporal spikes (BCECTS) there may be a fall in scholastic performance. OBJECTIVE: To study lexical decision in children with BCECTS. METHOD: 42 children with BCECTS were compared with a control group with respect to their hits and response time in a visual discrimination of words and pseudowords task (DWPT). RESULTS: The children with BCECTS had a lower percentage of hits for words and pseudowords and showed longer response times for pseudowords. They also frequently showed inferior reading and writing performance in the school performance test. The percentage of hits for pseudowords was lower when there was bilateral, asynchronous epileptiform activity. CONCLUSIONS: The DWPT provided contributions for reading assessments in children with BCECTS. The results indicated the need for attention in detecting reading difficulties in children with BCECTS.

Na fase ativa da epilepsia benigna da infância com pontas centrotemporais (EBICT) pode ocorrer queda de desempenho escolar. OBJETIVO: Estudar a decisão lexical em crianças com EBICT. MÉTODO: 42 crianças com EBICT foram comparadas a grupo controle quanto a acertos e tempo de resposta em tarefa de discriminação visual entre palavras e pseudopalavras (DVPPS). RESULTADOS: As crianças com EBICT tiveram percentual menor de acertos para palavras e pseudopalavras e maior tempo de resposta para pseudopalavras e tiveram, mais frequentemente, desempenho inferior em escrita e leitura em teste de desempenho escolar. Houve relação significativa entre os resultados do DVPPS e o teste de desempenho escolar. A percentagem de acerto de pseudopalavras foi menor quando havia atividade epileptiforme bilateral e assíncronia no eletrencefalograma. CONCLUSÃO: O DVPPS mostrou contribuições na avaliação da leitura em crianças com EBICT. Os resultados apontam para a necessidade de atenção na detecção de dificuldades de leitura em crianças com EBICT.