[Neurolinguistic aspects in autism spectrum disorders. Neuroanatomical and functional relations]. / Aspectos neurolingüísticos en los trastornos del espectro autista. Relaciones neuroanatómicas y funcionales.

INTRODUCTION AND DEVELOPMENT: Impairments in language and communication are a defining feature of autism spectrum disorders. There is significant variability in linguistic abilities in autism spectrum disorders. They have difficulties with certain aspects of language such as semantics functions, syntax, prosody and phonology, although the most evident language deficits concern to pragmatics functioning. These language difficulties can cause serious problems in social interaction. CONCLUSIONS: The neural bases underlying this failure to develop language are unknown. Several functional and structural imaging studies have identified irregularities in language-related regions in autism spectrum disorders, such as morphometric differences in Broca's area and Wernicke's area, and patterns of reduced or reversed laterality in frontal and temporal cortex. There is also decreased functional connectivity between anterior and posterior language regions.

[A study of autism spectrum disorders and language disorders using magnetoencephalography. The scientific contribution of Dr. Muñoz Yunta]. / Estudio de los trastornos del espectro autista y trastornos del lenguaje mediante magnetoencefalografía. Aportación científica del Dr. Muñoz Yunta.

INTRODUCTION AND DEVELOPMENT: Autism spectrum disorders (ASD) are characterised by the alteration of three basic areas of behaviour, qualitative alterations in reciprocal social interaction, qualitative alterations in communication and patterns of behaviour, and stereotyped, repetitive and restrictive activities and interests. Specific language impairment (SLI) is 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 developmental disorder. In both disorders, epilepsy has an important role. Dr. Muñoz Yunta's researches were focused in studying ASD and SLI using magnetoencephalography in order to look for epileptiform activity in precise cerebral areas. CONCLUSIONS: Patients with ASD showed specific epileptiform activity predominantly distributed in the perisylvian areas. In patients with Asperger's syndrome, epileptiform activity was mostly found in the right hemisphere. In patients with autism, no lateralized epileptiform activity was observed, although there was predominant activity in the left hemisphere. Subclinical epileptiform activity was found in the perisylvian areas in patients with ASD. Patients with SLI displayed epileptiform activity in the frontal and middle temporal regions of both hemispheres. Magnetoencephalography can be used to distinguish between patients with ASD and patients with SLI.

Estudio de los trastornos del espectro autista y trastornos del lenguaje mediante magnetoencefalografía. Aportación científica del Dr. Muñoz Yunta / A study of autism spectrum disorders and language disorders using magnetoencephalography. The scientific contribution of Dr. Muñoz Yunta

Introducción y desarrollo. Los trastornos del espectro autista (TEA) se caracterizan por la alteración de tres áreas de la conducta, la alteración cualitativa en la interacción social recíproca, la alteración cualitativa en la comunicación y patrones de conducta, y actividades e intereses restrictivos, repetitivos y estereotipados. El trastorno específico del lenguaje (TEL) es un trastorno del lenguaje lento y retrasado respecto a su edad cronológica, que no tiene relación con un déficit sensorioauditivo, déficit motor ni trastorno generalizado del desarrollo. En ambos trastornos, la epilepsia tiene un papel importante. Las investigaciones del Dr. Muñoz Yunta se centraron en estudiar los TEA y los TEL mediante magnetoencefalografía, con el fin de encontrar actividad epileptiforme en áreas cerebrales precisas. Conclusiones. Los pacientes con TEA presentaban actividad epileptiforme específica predominantemente distribuida en las áreas perisilvianas. En los pacientes con síndrome de Asperger, la actividad epileptiforme se encontró principalmente en el hemisferio derecho. En los pacientes con autismo, no se observó actividad epileptiforme lateralizada, aunque había actividad predominante en el hemisferio izquierdo. En los pacientes con TEA, se encontró actividad epileptiforme subclínica en las áreas perisilvianas. Los pacientes con TEL presentaban actividad epileptiforme en las regiones frontales y temporal media de ambos hemisferios. La magnetoencefalografía permite distinguir entre pacientes con TEA y pacientes con TEL (AU)

Introduction and development. Autism spectrum disorders (ASD) are characterised by the alteration of three basic areas of behaviour, qualitative alterations in reciprocal social interaction, qualitative alterations in communication and patterns of behaviour, and stereotyped, repetitive and restrictive activities and interests. Specific language impairment (SLI) is 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 developmental disorder. In both disorders, epilepsy has an important role. Dr. Muñoz Yunta’s researches were focused in studying ASD and SLI using magnetoencephalography in order to look for epileptiform activity in precise cerebral areas. Conclusions. Patients with ASD showed specific epileptiform activity predominantly distributed in the perisylvian areas. In patients with Asperger’s syndrome, epileptiform activity was mostly found in the right hemisphere. In patients with autism, no lateralized epileptiform activity was observed, although there was predominant activity in the left hemisphere. Subclinical epileptiform activity was found in the perisylvian areas in patients with ASD. Patients with SLI displayed epileptiform activity in the frontal and middle temporal regions of both hemispheres. Magnetoencephalography can be used to distinguish between patients with ASD and patients with SLI (AU)

[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).

Magnetoencephalographic pattern of epileptiform activity in children with early-onset autism spectrum disorders.

OBJECTIVE: To provide further data around magnetoencephalographic (MEG) findings in early-onset autism spectrum disorders (ASD). METHODS: Thirty-six children (mean age 7 years) diagnosed of PDD (DSM-IV, ICD-10) were studied. There were 22 children with autistic disorder, 9 with Asperger's syndrome, and 5 with pervasive developmental disorder not otherwise specified (PDD-NOS). According to the Childhood Autism Rating Scale (CARS), the autistic disorder was mild to moderate in 11, and severe in 11. Neuroimaging studies using three-dimensional MRI as well as simultaneous MEG-EEG and fusion techniques through magnetic source imaging (MSI) were performed, with the aid of anesthesia in non-cooperative patients. RESULTS: Most patients had no EEG abnormalities. All ASD children showed common specific abnormalities in the shape of low amplitude monophasic and biphasic spikes (isolated or short bursts) as well as acute waves, predominantly distributed in the perisylvian areas. In Asperger's syndrome, epileptiform spikes were mostly found in the right hemisphere. No lateralized epileptiform activity was observed in non-Asperger's autistic patients. CONCLUSIONS: MEG epileptiform activity is frequently documented in children with early-onset ASD. SIGNIFICANCE: Subclinical epileptiform activity is present especially in the perisylvian regions for many patients with ASD.

[A comparative study of pragmatic language disorders and autism spectrum disorders using magnetoencephalography]. / Estudio comparativo mediante magnetoencefalografíade los trastornos del lenguaje pragmáticoy los trastornos del espectro autista.

INTRODUCTION: Pragmatics refers to the social use of language; its precursors are already present during the process of maturing, during the preverbal stage, and become manifest when the child starts to point and to share his or her attention with another person. In cases of specific language impairment (SLI) and autism spectrum disorders (ASD) it can be altered to varying degrees. PATIENTS AND METHODS: Due to the difficulties involved in diagnosis from a clinical point of view, we carried out a study by means of magnetoencephalography (MEG) on a series of 11 patients who had SLI and another series of 9 patients with ASD, in order to determine whether MEG is capable of distinguishing these diagnoses. RESULTS: Patients with SLI displayed pathological activity in the frontal and middle temporal regions of both hemispheres. Patients with ASD showed pathological activity in the perisylvian area. Expressive-receptive SLI with pragmatic language disorder showed pathological activity that was similar to that seen in autism. CONCLUSION: MEG can be used to distinguish between SLI and ASD by studying the epileptiform activity that occurs in pervasive developmental disorders. MEG helps us to understand the continuum that exists between SLI or expressive-receptive SLI and autism.

Estudio comparativo mediante magnetoencefalografía de los trastornos del lenguaje pragmático y los trastornos del espectro autista / A comparative study of pragmatic language disorders and autism spectrum disorders using magnetoencephalography

Introducción. La pragmática es el uso social del lenguaje;sus precursores ya están presentes durante el proceso de maduración,durante la etapa preverbal, y se manifiestan cuando el niño empiezaa señalar y a compartir su atención con otra persona. Éstapuede estar alterada en los trastornos específicos del lenguaje (TEL)y en los trastornos del espectro autista (TEA). Pacientes y métodos.Debido a las dificultades diagnósticas desde el punto de vista clínico,hemos realizado un estudio con magnetoencefalografía (MEG) auna serie de 11 pacientes que presentaban un TEL y otra serie de 9pacientes con un TEA, para comprobar si la MEG es capaz de distinguirestos diagnósticos. Resultados. Los pacientes con TEL presentanactividad patológica en las regiones frontales y temporal mediade ambos hemisferios. Los pacientes con TEA presentan actividadpatológica en la zona perisilviana. Los TEL expresivo-receptivos contrastorno pragmático del lenguaje presentan una actividad patológicaparecida al autismo. Conclusión. La MEG, mediante el estudio dela actividad epileptiforme en los trastornos generalizados del desarrollo,permite distinguir los TEL con respecto a los TEA. La MEGayuda a entender el continuo entre TEL o TEL expresivo-receptivo yautismo

Introduction. Pragmatics refers to the social use of language; its precursors are already present during the processof maturing, during the preverbal stage, and become manifest when the child starts to point and to share his or her attentionwith another person. In cases of specific language impairment (SLI) and autism spectrum disorders (ASD) it can be altered tovarying degrees. Patients and methods. Due to the difficulties involved in diagnosis from a clinical point of view, we carriedout a study by means of magnetoencephalography (MEG) on a series of 11 patients who had SLI and another series of 9patients with ASD, in order to determine whether MEG is capable of distinguishing these diagnoses. Results. Patients with SLIdisplayed pathological activity in the frontal and middle temporal regions of both hemispheres. Patients with ASD showedpathological activity in the perisylvian area. Expressive-receptive SLI with pragmatic language disorder showed pathologicalactivity that was similar to that seen in autism. Conclusion. MEG can be used to distinguish between SLI and ASD by studyingthe epileptiform activity that occurs in pervasive developmental disorders. MEG helps us to understand the continuum thatexists between SLI or expressive-receptive SLI and autism

Fisiopatogenia de las estereotipias y su relación con los trastornos generalizados del desarrollo / No disponible

Introducción. Las estereotipias, manifestaciones neuroconductuales de movimiento de patrón fijo y repetitivo de expresiónmotora o vocal sin finalidad alguna, son la expresión fenotípica de una alteración grave del desarrollo. Tienen unaimportancia semiológica extraordinaria en neurología evolutiva y deben tenerse en cuenta como patrón en los trastornos generalizadosdel desarrollo específicos. Objetivo. Considerar la importancia semiológica en los trastornos del desarrollo y organizaruna clasificación de las estereotipias de acuerdo a los trastornos del desarrollo, delimitar el concepto de conducta estereotipaday estereotipia, y explicar neurofisiológicamente las estereotipias en los trastornos generalizados del desarrollo. Desarrollo.Se revisa la importancia de la etología en la definición y clasificación de las estereotipias y sus teorías. Se enfocan lasestereotipias del desarrollo dentro del proceso madurativo y su relación en los tipos de conducta reactivo, propositito y comunicativo.Se discute el papel del somatograma en la ontogénesis madurativa con la somatognosia. Se estudian los circuitos neurofuncionalesque sustentan dichas estructuras (talamocorticales y corticotalámicas). Se correlacionan las manifestaciones conductualespatológicas en los ítems madurativos prensión patológica oculomanual, estereotipias, fallo de la atención compartida,no lectura de caras y fracaso de la empatía, como manifestación conductual neuroevolutiva. Conclusiones. Las estereotipiasson manifestaciones conductuales patológicas de un fracaso madurativo morfofuncional de los circuitos corticotalámicos ytalamocorticales. Son expresiones fenotípicas madurativas y marcadores biológicos conductuales del fracaso del desarrollo y,por tanto, del autismo. La estereotipia oculomanual o mirarse la mano tiene el mismo valor semiológico que el fracaso en laatención conjunta, la no lectura de caras y el fracaso de la empatía

[Functional neuroanatomical correlations of the perisylvian area in autism spectrum disorders]. / Correlaciones neuroanatómicas funcionales del área perisilviana en los trastornos del espectro autista.

INTRODUCTION: Autism spectrum disorders cover a continuum of disorders ranging from severe autism to mild autism and Asperger's syndrome. They are considered to be a subgroup of the pervasive development disorders and are characterised by the alteration of three basic areas of behaviour, qualitative alterations in reciprocal social interaction, qualitative alterations in communication and patterns of behaviour, and stereotyped, repetitive and restrictive activities and interests. These alterations are expressed to a greater or lesser degree depending on the level of severity of the disorder and can be detected and quantified by clinical instruments such as the ADI-R (Autism Diagnostic Interview-Revised) and the CARS (Childhood Autism Rating Scale). AIMS. Our aim was to establish a relationship between the specific behavioural characteristics of autism (evaluated by ADI-R and CARS) and brain structures and functions. PATIENTS AND METHODS: The sample was made up of 10 subjects (9 boys and 1 girl) diagnosed with pervasive development disorder. RESULTS: We obtained statistically significant Spearman correlations between the ADI-R item restricted, repetitive and stereotyped behaviour patterns and the area of the right inferior precentral gyrus. A positive correlation was also found between the item for abnormality or apparent deviation in development before the age of 36 months and the right supramarginal gyrus area, while the correlation was negative between the former and the left postcentral gyrus. There was also a significant correlation between the number of perisylvian areas and epileptiform activity and qualitative incapacity in communication on the ADI-R, and some items on the CARS with areas of the perisylvian zone. CONCLUSIONS: Our findings confirm the relation between functional alterations of the different areas that make up the perisylvian region and the distinct behavioural features that define and characterise autism.

[Specific language disorders: their diagnosis, classification and study using magnetoencephalography]. / Trastornos especificos del lenguaje: diagnóstico, tipificación y estudios con magnetoencefalografía.

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 Landau-Kleffner 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 syndrome.

Correlaciones neuroanatómicas funcionales del área perisilviana en los trastornos del espectro autista / Functional neuroanatomical correlations of the perisylvian área in autism spectrum disorders

Introducción. Los trastornos del espectro autista abarcan un continuo de trastornos que van desde el autismo grave hasta el autismo leve y síndrome de Asperger. Se consideran un subgrupo de los trastornos generalizados del desarrollo, y se caracterizan por la alteración de tres áreas de la conducta, la alteración cualitativa en la interacción social recíproca, la alteración cualitativa en la comunicación y patrones de conducta, intereses y actividades restrictivos, repetitivos y estereotipados. Estas alteraciones se expresan en mayor o menor medida dependiendo del nivel de gravedad del trastorno y pueden ser detectadas y cuantificadas por instrumentos clínicos como el ADI-R (Autism Diagnostic Interview-Revised) y el CARS (Childhood Autism Rating Scale). Objetivo. Establecer una relación entre las características conductuales específicas del autismo (valoradas mediante el ADI-R y el CARS) y las estructuras y funciones cerebrales. Pacientes y métodos. La muestra está formada por 10 sujetos (9 niños y 1 niña) diagnosticados de trastorno generalizado del desarrollo. Resultados. Obtuvimos correlaciones de Spearman estadísticamente significativas entre el ítem patrones de comportamiento restringidos, repetitivos y estereotipados del ADI-R y el área de la circunvolución precentral inferior derecha, así como el ítem anormalidad o desvío en el desarrollo evidente antes de los 36 meses de edad correlacionó positivamente con el área de la circunvolución supramarginal derecha y negativamente con el área de la circunvolución postcentral izquierda. También correlacionó significativamente la cantidad de áreas perisilvianas con actividad epileptiforme y la incapacidad cualitativa en la comunicación del ADI-R, y algunos ítems del CARS con áreas de la zona perisilviana. Conclusión. Nuestros resultados confirman que las alteraciones funcionales de las distintas áreas que conforman la zona perisilviana están relacionadas con los diversos rasgos conductuales que definen y caracterizan al autismo (AU)

Introduction. Autism spectrum disorders cover a continuum of disorders ranging from severe autism to mild autism and Asperger’s syndrome. They are considered to be a subgroup of the pervasive development disorders and are characterised by the alteration of three basic areas of behaviour, qualitative alterations in reciprocal social interaction, qualitative alterations in communication and patterns of behaviour, and stereotyped, repetitive and restrictive activities and interests. These alterations are expressed to a greater or lesser degree depending on the level of severity of the disorder and can be detected and quantified by clinical instruments such as the ADI-R (Autism Diagnostic Interview-Revised) and the CARS (Childhood Autism Rating Scale). Aims. Our aim was to establish a relationship between the specific behavioural characteristics of autism (evaluated by ADI-R and CARS) and brain structures and functions. Patients and methods. The sample was made up of 10 subjects (9 boys and 1 girl) diagnosed with pervasive development disorder. Results. We obtained statistically significant Spearman correlations between the ADI-R item restricted, repetitive and stereotyped behaviour patterns and the area of the right inferior precentral gyrus. A positive correlation was also found between the item for abnormality or apparent deviation in development before the age of 36 months and the right supramarginal gyrus area, while the correlation was negative between the former and the left postcentral gyrus. There was also a significant correlation between the number of perisylvian areas and epileptiform activity and qualitative incapacity in communication on the ADI-R, and some items on the CARS with areas of the perisylvian zone. Conclusions. Our findings confirm the relation between functional alterations of the different areas that make up the perisylvian region and the distinct behavioural features that define and characterise autism (AU)

[Stereotypes, developmental disorders and neuroimaging studies]. / Estereotipias, trastornos del desarrollo y estudios con neuroimagen.

INTRODUCTION: We believe that it is of great interest, in neuropediatric clinic, to value the molar behavior disorders and to accomplish the corresponding molecular alterations in the central nervous system. PATIENTS AND METHODS: We studied 26 patients diagnosed of serious disorders of the development, that were presenting a typical clinic with manual stereotypes. We choose at random 5 children to practice them a study of metabolic neuroimaging through the Positron Emission Tomography with 18Fluoro-Deoxi-Glucose (PET-FDG). RESULTS AND CONCLUSIONS: The conclusion, more meaningful, is that the children with serious disorders of the development present a mature failure in the neuro-function circuits of the thalamus, as well as the cortical connection and association areas. This clinical situation is reinforced by the results of the PET-FDG, that presents a characteristic metabolic image of the autism children, with a bilateral decrease of the capitation of FDG, mainly in regions as thalamus, frontal and temporary lobes.

[Disorders associated with the Gilles de la Tourette syndrome]. / Trastornos asociados al síndrome de Gilles de la Tourette.

INTRODUCTION AND OBJECTIVE: Diagnostic criteria of the Gilles de la Tourette syndrome hasn't changed in many years. Lately, associated symptoms have became very important. In this study, we want to stress the relationship between precocious diagnostic criteria, proposed by us, and the associated symptomatology, specially the obsessive-compulsive disorder. PATIENTS AND METHODS: We have studied 30 patients with the diagnosis of Gilles de la Tourette syndrome with associated obsessive-compulsive disorder by means of our criteria, evaluating their fiability when confronted to the Shapiro et al and DSM III-R criteria. CONCLUSIONS: New criteria, that we have named Muñoz-Gómez, were useful for the precocious diagnosis of this syndrome and for evaluation of the associated symptomatology.