Los desencadenantes reflejos en la epilepsia mioclónica juvenil / Reflex triggers in juvenile myoclonic epilepsy

Resumen Introducción : La epilepsia mioclónica juvenil (EMJ) es un síndrome epiléptico de inicio en la infancia y ado lescencia con mioclonías, convulsiones tónico-clónicas generalizadas y ausencias. Los estímulos reflejos como la sensibilidad a la luz o fotosensibilidad, la apertura y cierre palpebral y la inducción por praxias producen descargas epileptiformes y crisis. Estos desencadenan tes reflejos no son todos sistemáticamente estudiados. Objetivo : Examinar los rasgos reflejos en pacientes con EMJ. Métodos : Se evaluaron en forma consecutiva 100 adolescentes y adultos con EMJ que recibían diferentes tratamientos anticrisis. Se realizó un electroencefalogra ma standard con un protocolo de estimulación luminosa intermitente (ELI) y otro para la evaluación de las pra xias a través de una actividad neurocognitiva (ANC). El análisis estadístico fue descriptivo y de correlación. Se consideró significativa una p > 0.05. Resultados : La edad actual fue de 28+/-11 (14-67). Las crisis comenzaron a los 15 años +/-3 (Rango 8-25 años). EL 58% presentaron mioclonías y convulsiones tónico clónicas generalizadas. El 50% recibían ácido valproico y el 31% continuaban con crisis. Descargas epileptiformes en reposo 20%; hiperventilación 30%; apertura y cierre palpebral 12%; respuesta fotoparoxística en la ELI 40%; ANC 23%. Mayor porcentaje de descargas y demora en la realización de la ANC en los que presentaban crisis. El ácido valproico comparado con los otros fármacos no demostró superioridad en el control de las crisis. Conclusiones : Estos hallazgos confirman la importan cia del estudio de los rasgos reflejos para el diagnóstico, seguimiento y el control terapéutico.

Abstract Introduction : Juvenile myoclonic epilepsy (JME) is an epileptic syndrome with onset in childhood and adolescence with myoclonus, absences, and generalized tonic-clonic seizures. Reflex stimuli such as sensitivity to light or photosensitivity, eyelid opening and closing, and praxis induction produce epileptiform discharges and seizures. These reflex triggers are not all system atically studied. Objective : Examine reflex features in patients with JME. Methods : One hundred adolescents and adults with JME who received different anti-seizure treatments were evaluated consecutively. A standard electroen cephalogram was performed with an intermittent light stimulation (SLI) protocol and another for the evaluation of praxias through neurocognitive activity (CNA). The statistical analysis was descriptive and of correlation with a p > 0.05. Results : Current age was 28+/-11 (14-67). The seizure began at 15 years +/-3 (Range 8-25 years). They pre sented myoclonus and generalized tonic-clonic seizures in 58%. 50% received valproic acid and 31% continued with seizures. Epileptiform discharges at rest 20%; hy perventilation 30%; eyelid opening and closing 12%; photoparoxysmal response in SLI 40%; CNA 23%. Higher percentage of discharges and delay in performing CNA in those who presented seizures. Valproic acid com pared to other drugs did not demonstrate superiority in seizure control. Conclusions : These findings confirm the importance of studying reflex traits for diagnosis, follow-up, and therapeutic control.

Habilidades gnósico-práxicas relacionadas con dificultades del aprendizaje de la lectura y la escritura en individuos de 9 a 12 años / Gnosis-praxic Skills Related to Disabilities in Learning to Read and Write in Individuals Aged 9 to 12 Years

Resumen Las dificultades del aprendizaje constituyen una de las principales causas de fracaso escolar; su aparición temprana puede evidenciarse en las habilidades gnósico-práxicas que soportan los procesos de lectura y escritura. Objetivo: Describir las habilidades gnósicas y práxicas en niños escolares, de 9 a 12 años de edad, asociadas a la presencia o no de dificultades en la lectura y/o la escritura. Participantes: 53 niños de una institución pública del municipio de Sabaneta-Colombia, divididos en dos grupos, uno compuesto por 16 niños con dificultades en la lectura y/o escritura y, el otro, por 37 niños sin dificultades en estos procesos. Resultados: La comparación intergrupos evidenció diferencias estadísticas (valor p y tamaño del efecto) significativas en aspectos cruciales para el proceso de lectura y escritura: la formación de imágenes visoconstruccionales y la velocidad, la planeación y la coordinación motora, evaluadas a partir de las tareas gnósico-práxicas de Sucesión de números y letras (WISC-IV) y Tapping (BANETA). Adicionalmente, se hallaron diferencias estadísticas en las subpruebas de Esterognosia, y correlaciones significativas entre Tapping y la velocidad al escribir palabras (BANETA). Conclusión: Las habilidades gnósico-práxicas no son plenamente los procesos predominantes en las diferencias intergrupos, si bien las habilidades motoras se vinculan con los procesos de aprendizaje y las dificultades que en ellos puedan presentarse, como lo sugieren las correlaciones dadas entre la subprueba de velocidad motora y el proceso de escritura. Adicionalmente, la velocidad de procesamiento y la memoria operativa se presentan como procesos transversales a las habilidades gnósico-práxicas y de lectura y escritura.

Abstract Learning disabilities constitute one of the main causes of school failure; their early manifestation may be evidenced in the gnosis-praxis skills that support reading and writing processes. Objective: To describe the performance of gnosis-praxis skills in school children (aged from 9 to 12 years old), associated to the existence or not of reading and/or writing difficulties. Participants: 53 children of a public school in Sabaneta - Colombia, divided into two groups, one consisting of 16 children with difficulties in reading and/or writing and, the other, by 37 children without difficulties in these processes. Results: The intergroup comparison showed significant statistical differences , in crucial aspects for reading and writing process: the visoconstructional image formation, speed, planning and motor coordination, obtained from the gnosis - praxis tasks of Letter-Number Sequencing (WISC-IV) and Tapping (BANETA). Additionally, statistical differences were found in the subtests of Stereognosis (BANETA) and significant correlations between Tapping and the speed rate in writing words. Conclusion: Gnosis - praxis skills are not the predominant processes in intergroup differences, even though motor skills are linked to learning process and the difficulties they may arise, as suggested by the correlations given between the motor speed subtest and the writing process. In addition, processing speed and operational memory are shown as crosscutting processes in gnosis-praxis, reading and writing skills.

A influência da idade e da escolaridade nas praxias construtivas do teste NEUPSILIN / The influence of age and schooling in the constructive praxis of the NEUPSILIN test / Influencia de la edad y la escolaridad en las praxias constructivas del test NEUPSILIN

Avaliação das praxias construtivas, embora tradicional, tem sido insuficientemente explorada no exame neurocognitivo. O objetivo foi verificar efeito de idade e escolaridade, assim como interação entre os itens de praxias construtivas no Instrumento de Avaliação Neuropsicológica Breve ­ NEUPSILIN, obtendo-se normas de referência por desempenho. Participaram 613 adultos e idosos entre 19 até 90 anos. Realizou-se quatro tarefas, três de cópia (quadrado, margarida e cubo) e uma produção espontânea (relógio). Conduziu-se MANCOVA para avaliar efeito da idade e escolaridade nos grupos; post hoc Bonferroni para normas nos desenhos. Houve efeito de idade no quadrado e no relógio e efeito de escolaridade no relógio. Ocorreu interação entre idade e escolaridade no cubo e na margarida em que o desempenho aumentou nos grupos de maior escolaridade e diminuíram com aumento da idade. Percebe-se a influência da idade e escolaridade como variáveis relevantes para dados normativos de desempenho em praxias construtivas. (AU)

Constructive praxis evaluation, although traditional, has been insufficiently explored in the neurocognitive examination. The objective of this study was to verify the effect of age and schooling, as well as interaction between the items of constructive praxis in the Brief Neuropsychological Assessment Instrument (NEUPSILIN), obtaining performance benchmarks. A total of 613 adults and elderly between 19 and 90 years of age participated. There were four tasks: three copying (square, daisy and cube) and one spontaneous production (clock). MANCOVA was conducted to evaluate effects of age and schooling in the groups; post hoc Bonferroni for standards in drawings. Age had an effect on the drawings of the square and the clock, schooling had an effect on the drawings of the clock. There was interaction between age and schooling in the cube and daisy drawings, in which performance increased in the groups with higher schooling and decreased with increasing age. We can see the influence of age and schooling as relevant variables for normative performance data in constructive praxis. (AU)

La evaluación de las praxias constructivas, aunque tradicional, no ha sido suficientemente investigada en el examen neurocognitivo. El objetivo fue verificar la interacción entre edad y escolaridad, así como la interacción entre los ítems de praxias constructivas en el Instrumento de Evaluación Neuropsicológica Breve ­ NEUPSILIN, obteniéndose normas de referencia por rendimiento. Participaron 613 adultos y ancianos con edades entre 19 y 90 años. Fueron realizadas cuatro tareas, tres copias (cuadrado, margarita y cubo) y una producción espontánea (reloj). Se llevó a cabo MANCOVA para evaluar el efecto de edad y escolaridad en los grupos; post hoc Bonferroni para las normas en los dibujos. Hubo efecto de edad en el cuadrado y en el reloj; también hubo efecto de escolaridad en el reloj. Hubo interacción entre edad y escolaridad en el cubo y la margarita donde el rendimiento aumentó en los grupos con más escolaridad y disminuyó en los grupos de edad más avanzada. La influencia de edad y escolaridad parecen ser variables relevantes para datos normativos de rendimiento en praxias constructivas. (AU)

Frontotemporal dementia: clinical, neuropsychological, and neuroimaging description / Demencia frontotemporal: descripción clínica, neuropsicológica e imaginológica

Objetivo: To describe the relation between the clinical, neuropsychological, and brain imaging findings in a group of patients with fronto temporal dementia. Methods: A sample of 21 patients was collected, and their charts, cognitive profiles, and brain imagines were reviewed; all patients were evaluated as outpatients at the Hospital Psiquiátrico Universitario del Valle, in Cali, Colombia. Results: The mean age was 59.8 years old, the time elapsed between the beginning of the symptoms and the diagnosis was 2.7 years, the more frequent variant was the behavioral one, the main alteration at the magnetic resonance imaging was the frontotemporal atrophy, and the more frequent alteration on the brain SPECT was the frontotemporal hypo perfusion. On the cognitive evaluation the main finding was the normal scoring in praxis, which was related to a temporo parietal hypo perfusion at the brain SPECT (p <0.02). Mimnimental either CLOX were useful as screening tests.

Objetivo: Describir la relación entre los hallazgos clínicos, neuropsicológicos e imagenológicos en un grupo de pacientes con el diagnóstico de DFT. Métodos: Se revisaron las historias clínicas, pruebas cognitivas e imágenes cerebrales estructurales y de perfusión de 21 pacientes del Hospital Psiquiátrico Universitario del Valle, Cali, Colombia. Resultados: El promedio de edad fue de 59.8 años, el tiempo de evolución de la enfermedad fue de 2.7 años, la variante más frecuente fue la comportamental, la alteración más frecuente en la RMN fue la atrofia frontotemporal y en el SPECT fue la hipoperfusión frontotemporal. El hallazgo más importante fue el rendimiento normal del 61.9% de los pacientes en pruebas de praxis, la cual se relacionó con alteración en la perfusión temporo parietal en el SPECT (p <0.02). El minimental ni el clox sirvieron como pruebas de tamizaje.

History, citoarchitecture andneurophysiology of human and nonhuman primates parietal lobe - a review / História, citoarquitetura e neuropsicologia do lobo parietal de primatas humanos e não humanos uma revisão

This strict localizationism had and still has its importance for the development of Neurosciences, since the analysis of changes in mental processes resulting from brain damage became the basis for understanding the brain organization. The human parietal cortex is a highly differentiated structure, consisting of citoarchitectonically defined subareas that are connected to other cortical and subcortical areas. Patients with lesions in the parietal cortex develop various types of neuropsychological manifestations, depending on the specific location of the lesion and the corresponding hemisphere and these lesions in this lobe do not cause modal specific disturbances. The establishment of homologies between the parietal region in humans and primates can be of great contribution in trying to unravel the various functions and complexity of this area.

O localizacionismo estrito teve e ainda tem a sua importância para o desenvolvimento da Neurociência, uma vez que a análise de mudanças nos processos mentais resultantes de danos cerebrais se tornou a base para a compreensão da organização cerebral. O córtex parietal humano é uma estrutura altamente diferenciada, composta por subáreas histologicamente definidas que estão ligadas a outras áreas corticais e subcorticais. Pacientes com lesões no córtex parietal desenvolvem vários tipos de manifestações neuropsicológicas, dependendo do local específico da lesão e do hemisfério correspondente, mas estas lesões não causam perturbações modais específicas. O estabelecimento de homologias entre a região parietal em seres humanos e os primatas podem ser de grande contribuição na tentativa de desvendar as diversas funções e complexidade desta área.

Desempenho de meninos e meninas em atividade práxica construtiva / Performance of boys and girls in constructive praxis activity

Esse estudo teve como objetivo avaliar o tempo de desempenho de meninos e meninas em uma atividade práxica construtiva. As variáveis analisadas foram: tempo total de duração da tarefa, tempo de planejamento ou reação, a peça e o lado do brinquedo escolhidos para iniciar a tarefa e a conclusão da tarefa. Foram avaliadas 58 crianças de 8-9 anos (28 meninos e 30 meninas), dos quais 52 eram destros e seis canhotos (três de cada sexo), sem história prévia de lesão cerebral. Todas as crianças responderam a um questionário, realizaram uma atividade de leitura e de desenho de uma casa e, posteriormente, realizaram a tarefa proposta, que consistiu da construção de uma casa exatamente igual à do modelo oferecido previamente. Para iniciar a tarefa a criança deveria disparar o cronômetro e, então, poderia mexer nas peças e no modelo. Quando a criança considerava ter terminado a tarefa ela própria apertava o cronômetro. Dos 58 participantes avaliados, apenas 24% realizaram a tarefa corretamente (50% do sexo feminino e 50% do sexo masculino), 64% realizaram a tarefa, porém de modo incorreto, e 12% desistiram e não finalizaram a tarefa. Os dados analisados não evidenciaram diferenças entre meninos e meninas em nenhuma das variáveis estudadas.

This search has as objective to compare the performance of boys and girls in a constructive praxis activity. Data analyzes was based on the total task duration, planning or reaction time, the kind and the side of the toy chosen by the child to start the activity and if the task achievement. A population of 58 8-to-9-year old children (28 boys and 30 girls), including 52 dexterous and six left-handed (three of each gender), without any previous cerebral injury notice was studied. All the children answered a questionnaire, carried through an activity of reading and drawing a house and performed the task. The proposed activity was the construction of a house exactly identical to a model. To start the task the child had first to press on his/her chronometer and only then could touch the parts and the whole model. When the child considered to have finished the task he/she pressed the chronometer off. Only 24% performed the task correctly (50% female and 50% male), 64% carried through the task, but in an incorrect way, and 12% gave up and did not finish the experiment. Differences in the performance of boys and girls were not evidenced in all studied variables.