[Autism, epilepsy and genetics]. / Autismo, epilepsia y genética.

INTRODUCTION: The rate of epilepsy in autism is higher than in other developmental disorders and estimates point to a frequency range of between 7% and 42%. Between 40% and 47% of autistic children suffer from clinical epilepsy. Onset of epilepsy may occur at any age. DEVELOPMENT: During the ontogenesis of the nervous system, if the maturing process is upset by some epileptogenic phenomenon, the consequences on the consolidation of the emerging cognitive functions can be severe. Epileptiform discharges can occur although clinical seizures are absent, but nevertheless they still have an effect on the maturing process. Between 10% and 50% of autistic children undergo a regression of acquired behaviour following a period of normal development. The absence of clinical seizures during regression does not rule out the epileptogenic origin of the regressive process. CONCLUSIONS: The relation between pervasive developmental disorders and epilepsy, epileptiform activity and subclinical seizures can be explained from a neurobiological point of view, on the one hand, by an imbalance between the excitatory system -glutamate- and the inhibitory system -gamma-aminobutyric acid (GABA)- in key points in the cerebral cortex and, on the other, by means of molecular genetic studies and studies of candidate genes (FOXP2, WNT2, subunits of GABA receptors, neuroligins, ARX, SCN1A, SCN2A, MECP2, CDKL5 and DLX5).

Autismo, epilepsia y genética / Autism, Epilepsy and Genetics

Introducción. La tasa de epilepsia en el autismo es mayor que en otros trastornos del desarrollo, y se estima en un rango de frecuencia del 7 al 42%. Entre el 40 y el 47% de los niños autistas sufre epilepsia clínica. El inicio de la epilepsia puede darse a cualquier edad. Desarrollo. Durante la ontogénesis del sistema nervioso, si el proceso madurativo se ve interferido por un fenómeno epileptógeno, las consecuencias pueden ser graves para la consolidación de las funciones cognitivas emergentes. Las descargas epileptiformes pueden darse en ausencia de crisis clínicas, pero afectando de igual manera al proceso madurativo. Entre el 10 y el 50% de los niños autistas sufre una regresión de la conducta adquirida después de un período de desarrollo normal. La ausencia de crisis clínicas durante la regresión no descarta el origen epileptogénico del proceso regresivo. Conclusiones. Se puede explicar la relación entre los trastornos generalizados del desarrollo y la epilepsia, la actividad epileptiforme y las crisis subclínicas desde un punto de vista neurobiológico, por un lado, mediante un desequilibrio entre el sistema excitador –glutamato– y el sistema inhibidor –ácido gamma-aminobutírico (GABA)– en puntos claves del córtex cerebral y, por otro lado, mediante los estudios de genética molecular y estudio de genes candidatos (FOXP2, WNT2, subunidades de los receptores GABA, neuroliginas, ARX, SCN1A, SCN2A, MECP2, CDKL5 y DLX5) (AU)

Introduction. The rate of epilepsy in autism is higher than in other developmental disorders and estimates point to a frequency range of between 7% and 42%. Between 40% and 47% of autistic children suffer from clinical epilepsy. Onset of epilepsy may occur at any age. Development. During the ontogenesis of the nervous system, if the maturing process is upset by some epileptogenic phenomenon, the consequences on the consolidation of the emerging cognitive functions can be severe. Epileptiform discharges can occur although clinical seizures are absent, but nevertheless they still have an effect on the maturing process. Between 10% and 50% of autistic children undergo a regression of acquired behaviour following a period of normal development. The absence of clinical seizures during regression does not rule out the epileptogenic origin of the regressive process. Conclusions. The relation between pervasive developmental disorders and epilepsy, epileptiform activity and subclinical seizures can be explained from a neurobiological point of view, on the one hand, by an imbalance between the excitatory system –glutamate– and the inhibitory system –gamma-aminobutyric acid (GABA)– in key points in the cerebral cortex and, on the other, by means of molecular genetic studies and studies of candidate genes (FOXP2, WNT2, subunits of GABA receptors, neuroligins, ARX, SCN1A, SCN2A, MECP2, CDKL5 and DLX5) (AU)

Trastornos específicos del lenguaje: diagnóstico, tipificación y estudios con magnetoencefalografía / Specif language disorders: their diagnosis. Classification and study using magnetoencephalography

Introducción. El trastorno específico del lenguaje (TEL) se define cono un trastorno del lenguaje lento y retrasado respecto su edad cronológica, que no tenga relación con un déficit sensorioauditivo, motor ni trastorno generalizado del desarrollo, es decir, deben excluirse las alteraciones neurológicas estructurales y funcionales del desarrollo. Los trastornos específicos del lenguaje, después de largos estudios y consenso se han clasificado en dos grandes grupos: el trastorno específico del lenguaje expresivo y el trastorno específico del lenguaje receptivo-expresivo. Objetivo. Estudiar los TEL mediante magnetoencefalografía (MEG) con el fin de encontrar manifestaciones epileptiformes en áreas precisas del lenguaje. Pacientes y métodos. Muestra formada por 11 pacientes que presentaban TEL, uno que presentaba síndrome de Landau-Kleffner y uno con TEL de tipo criptogenético. Los criterios utilizados han sido tests dependientes deedad para exclusión de autismo y tests específicos del lenguaje para TEL. A todos los pacientes se les practicó la técnica MSI, mediante resonancia magnética y MEG. Resultados. Se obtiene un patrón característico para los TEL en forma de descargas de punta y polipunta-onda irregular en canales frontales bilaterales. Los dipolos se sitúan predominantemente en áreas perisilvianas izquierdas. Conclusión. El estudio de los trastornos del lenguaje mediante la MEG nos permite identificar los TEL considerados en una propuesta de clasificación como trastorno específico del lenguaje de tipo primario, trastorno específico del lenguaje de tipo criptogenético y trastorno específico del lenguaje de tipo secundario, como el síndrome de Landau-Kleffner (AU)

Introduction. Specific language disorder (SLD) is defined as a disorder in which language is slow and retarded with respect to the patient's chronological age, and which is not related to a sensory-auditory or motor deficit or to a pervasive development disorder; in other words, structural and functional neurological developmental disorders must be excluded. After many studies and attempts to reach an agreement, specific language disorders have been broadly classified into two groups: specific expressive language disorder and specific receptive-expressive language disorder. Aims. Our objective was to study SLD using magnetoencephalography (MEG) in order to look for epileptiform manifestations in precise language areas. Patients and methods. We studied a sample made up of 11 patients with SLD, one of whom had LandauKleffner syndrome and one with cryptogenic-type SLD. The criteria used were age-dependent autism exclusion tests and specific language tests for SLD. The MSI technique was carried out on all the patients, by magnetic resonance and MEG. Results. A characteristic pattern is obtained for SLD in the form of irregular spike and polyspike-wave discharges in bilateral frontal channels. The dipoles were situated mainly in the left perisylvian areas. Conclusions. The study of specific language disorders using MEG enables us to identify the SLD included in a proposed classification as primary-type specific language disorder, cryptogenic-type specific language disorder and secondary-type type specific language disorder, like Landau-Kleffner síndrome (AU)