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J A Muñoz-Yunta,
T Ortiz,
M Palau-Baduell,
L Martín-Muñoz,
B Salvadó-Salvadó,
A Valls-Santasusana,
J Perich-Alsina,
I Cristóbal,
A Fernández,
F Maestú,
C Dürsteler
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ABSTRACT: To provide further data around magnetoencephalographic (MEG) findings in early-onset autism spectrum disorders (ASD).
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.
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.
MEG epileptiform activity is frequently documented in children with early-onset ASD.
Subclinical epileptiform activity is present especially in the perisylvian regions for many patients with ASD.
Clinical Neurophysiology 04/2008; 119(3):626-34. · 3.41 Impact Factor
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ABSTRACT: 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.
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.
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).
Revista de neurologia 02/2008; 46 Suppl 1:S71-7. · 0.65 Impact Factor
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ABSTRACT: 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.
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.
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.
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.
Revista de neurologia 03/2006; 42 Suppl 2:S111-5. · 0.65 Impact Factor
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ABSTRACT: 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.
The sample was made up of 10 subjects (9 boys and 1 girl) diagnosed with pervasive development disorder.
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.
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.
Revista de neurologia 02/2005; 40 Suppl 1:S107-13. · 0.65 Impact Factor
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ABSTRACT: 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.
Our objective was to study SLD using magnetoencephalography (MEG) in order to look for epileptiform manifestations in precise language areas.
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.
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.
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.
Revista de neurologia 02/2005; 40 Suppl 1:S115-9. · 0.65 Impact Factor
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ABSTRACT: We understand the term ontogenesis to mean the process that begins from the moment the ovule is fertilised up to the second year of postnatal life, which is a process that plays a key role in the organisation of the central nervous system.
In this paper we describe the stages of micromaturation (glial cell proliferation, neuronal migration, synaptogenesis, selective apoptosis and general myelination) and the theories of neuronal plasticity are also explained.
The best known ontogenic process is the acquisition of motor maturity, while other areas such as the social and cognitive dimensions are less well known, and this would explain how autistic spectrum disorders remain undetected in the early stages. The somatogram is a valuable tool in the process of maturing that constitutes the foundation for understanding how the cognitive brain is constructed.
Revista de neurologia 03/2004; 38 Suppl 1:S3-8. · 0.65 Impact Factor
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ABSTRACT: INTRODUCTION: Autistic spectrum disorders (ASD) is a term that is not included in DSM IV or in ICD 10, which are the diagnostic tools most commonly used by clinical professionals but can offer problems in research when it comes to finding homogenous groups. DEVELOPMENT: From a neuropaediatric point of view, there is a need for a classification of the generalised disorders affecting development and for this purpose we used Wing's triad, which defines the continuum of the autistic spectrum, and the information provided by magnetoencephalography (MEG) as grouping elements. Specific generalised developmental disorders were taken as being those syndromes that partially expressed some autistic trait, but with their own personality so that they could be considered to be a specific disorder. ASD were classified as being primary, cryptogenic or secondary. The primary disorders, in turn, express a continuum that ranges from Savant syndrome to Asperger's syndrome and the different degrees of early infantile autism. MEG is a functional neuroimaging technique that has enabled us to back up this classification.
Revista de neurologia 03/2004; 38 Suppl 1:S28-32. · 0.65 Impact Factor
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ABSTRACT: Autism is a rare disease, but is currently in vogue. An incidence of 1/1,000 has been estimated for early childhood autism, but in autism spectrum the incidence can reach 30/1,000. The clinical characteristics of autism are cognitive language disorders, lack of social interaction, obsessive behaviours with stereotypic movements and epilepsy. For some authors it is an associated symptom while for others it is a cardinal symptom of the disease. Epilepsy in autism, as an association, was reported as early as 1944 by Leo Kanner, in describing his initial work involving 11 cases and how one of them suffered from epilepsy. In 1960, the prevalence of epilepsy among autistic patients was evaluated and found to be much higher than in the normal population. The figures differ from author to author, but really they depend on age: the higher the age, the greater the prevalence of epilepsy. It was in fact this detail that drew our attention to this issue, and triggered the first questions in our research into autism and epilepsy. The series vary from 4 to 86%, depending on the methodology used to confirm the epilepsy. In our casuistics, between the ages of 1 and 18 years, 20% of these children with autism spectrum disorders suffer some kind of epileptic seizures, and 80% suffer what other researchers call subclinical seizures . In this paper, the symptomatology of the most important subclinical seizures that have been observed in these children is presented; the diseases associated with autism are commented on; the concept of primary and secondary autism is discussed; we explain why seizures occur in autism and their consequences as a neurodevelopmental disorder, and we put forward an interesting hypothesis within our general theory of autism. We also comment on the importance that the use of functional magnetic images in the study of autism has in our research.
Revista de neurologia 03/2003; 36 Suppl 1:S61-7. · 0.65 Impact Factor
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ABSTRACT: Savant syndrome is currently still very mysterious, yet, thanks to the progress made in neuroimaging studies and especially MSI (Magnetic Source Imaging) techniques, a little more is now known about it. The theory, formulated many years ago, about damage to the left hemisphere of the brain has been supported by functional neuroimaging. Its relation to developmental disorders or to autism spectrum disorders is far more justified today and can be explained on the basis of its neuropathology. We present a study based on a review of the scientific literature concerning the syndrome, from the first time it was described back in 1789 by Benjamin Rush up to the present day. We comment on its epidemiology and positive clinical manifestations, involving brilliant artistic talent and dazzling memory, but also the negative aspects suffered by these autistic patients. The most important theories are discussed together with the clinical coincidence with frontotemporal dementia and the responsibility of the right hemisphere when there are alterations in the contralateral hemisphere. The latest contributions made by Positron Emission Tomography and magnetoencephalography will be discussed and a mini-video of a personal case will be projected.
Revista de neurologia 03/2003; 36 Suppl 1:S157-61. · 0.65 Impact Factor
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ABSTRACT: To evaluate the cerebral metabolic changes in paediatric patients using proton magnetic resonance spectroscopy.
We studied 31 patients diagnosed as having autism (autistic group) using cerebral magnetic resonance and hydrogen spectroscopy, together with 15 patients without autism (control group). The groups were sub divided according to age: 0-3 years, 4-7 years and 8-13 years. The morphology of the brain was studied using magnetic resonance and hydrogen spectroscopy of the thalamus. In each case we evaluated the presence of morphological changes in the brain and the concentrations of the cerebral metabolites N acetyl aspartate(NAA), choline (Cho) and creatinine (Cr) by measuring the coefficients NAA/Cr, NAA/Cho and Cho/Cr coefficients, and also any anomalous concentrations of other metabolites.
No morphological changes were seen in the brains studied. There was no significant increase in minor metabolites in any of the groups studied. Significant differences in the NAA/Cho and NAA/Cr coefficients between the control and autistic groups were only seen in the oldest subgroup (8-13 years), but in the other groups the differences were not significant. The results in the sub group of older autistic children are similar to those of the younger subgroups in both autistic and control groups.
The spectroscopic findings showed similar recordings in the control group and in the autistic group up to the age of 7 years with reduced thalamic NAA in autistic patients older than this. This suggests interruption and regression in the process of neuronal maturity, in which the thalamus also plays a part.
Revista de neurologia 03/2002; 34 Suppl 1:S68-71. · 0.65 Impact Factor
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ABSTRACT: 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.
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).
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.
Revista de neurologia 03/1999; 28 Suppl 2:S124-30. · 0.65 Impact Factor
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ABSTRACT: 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.
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.
New criteria, that we have named Muñoz-Gómez, were useful for the precocious diagnosis of this syndrome and for evaluation of the associated symptomatology.
Revista de neurologia 03/1999; 28 Suppl 2:S156-9. · 0.65 Impact Factor
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J Fuentes-Biggi,
M J Ferrari-Arroyo,
L Boada-Muñoz,
E Touriño-Aguilera,
J Artigas-Pallarés,
M Belinchón-Carmona, J A Muñoz-Yunta,
A Hervás-Zúñiga,
R Canal-Bedia,
J M Hernández,
A Díez-Cuervo,
M A Idiazábal-Aletxa,
F Mulas,
S Palacios,
J Tamarit,
J Martos-Pérez,
M Posada-De la Paz
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ABSTRACT: Due to the inexistence of an aetiology-based intervention for autistic spectrum disorders (ASD) families and professionals are exposed to diverse and sometimes conflictive recommendations when they have to decide the most adequate alternative for treatment.
To elaborate treatment guidelines agreed by consensus at the ASD Study Group of the (National) Institute of Health Carlos III.
Information about treatment of ASD was searched and gathered through available evidence based medical (EBM) databases. The data generated was complemented with practice parameters published elsewhere, reports from prestigious international institutions, focus oriented searches in PubMed and, finally, the opinion and experience of a multidisciplinary Study Group with extensive experience in treating ASD in Spain. Most popular treatment methods were reviewed as well as the common elements to be considered in successful support programs.
No simple treatment algorithm can be produced at this time, and the level of available evidence based recommendations are in the weaker degrees of EBM classifications. Nevertheless, there is widespread agreement to stress that education, with special incidence in the development of communication and social competence, with the addition of community support are the main means of treatment. They can be complemented, depending on individual needs, with medication, behavioural approaches and cognitive-behavioural therapy for associated psychological problems in persons with higher cognitive level. Support to families and community empowerment are essential elements for the quality of life of persons with ASD.
Revista de neurologia 43(7):425-38. · 0.65 Impact Factor
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A Díez-Cuervo, J A Muñoz-Yunta,
J Fuentes-Biggi,
R Canal-Bedia,
M A Idiazábal-Aletxa,
M J Ferrari-Arroyo,
F Mulas,
J Tamarit,
J R Valdizán,
A Hervás-Zúñiga,
J Artigas-Pallarés,
M Belinchón-Carmona,
J M Hernández,
J Martos-Pérez,
S Palacios,
M Posada-De la Paz
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ABSTRACT: The autism spectrum disorder (ASD) diagnostic process requires expertise both in the knowledge of autism as in teamwork strategies with different professionals, often working in different clinic services, and with parents.
To recommend a consensus diagnostic procedure for ASD, that has been designed by the Study Group of the Instituto de Salud Carlos III.
The reports emphasize the need to obtain a complete clinical history, covering personal, family and psychosocial antecedents; detailing the basic areas affected in ASD--social interaction, communication and restricted patterns of behaviour, activities and interests. Diagnostic tests to be used as a routine in all cases are described and analysed--including both psychoeducational and biomedical tests. Also, tests indicated in cases with suspected identifiable physical disorders are covered, as well as those medical tests to be used for research purposes only.
The diagnostic procedure requires the implementation of a coordinated interdisciplinary assessment strategy, that needs to ensure the participation of professionals from very different fields in active collaboration with the family. Their role culminates in the preparation and delivery of a personalized report. Every diagnostic procedure needs to be accompanied by an action plan that includes immediate support to the person with ASD, as well as information to the family on resources and community initiatives in their living area.
Revista de neurologia 41(5):299-310. · 0.65 Impact Factor
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J M Hernández,
J Artigas-Pallarés,
J Martos-Pérez,
S Palacios-Antón,
J Fuentes-Biggi,
M Belinchón-Carmona,
R Canal-Bedia,
A Díez-Cuervo,
M J Ferrari-Arroyo,
A Hervás-Zúñiga,
M A Idiazábal-Alecha,
F Mulas, J A Muñoz-Yunta,
J Tamarit,
J R Valdizán,
M Posada-De la Paz
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ABSTRACT: The interest in early detection of Autism Spectrum Disorders (ASD) lies in the accumulated evidence of the fact that an early customized intervention for children with an ASD and their families leads to an improvement of the child's prognosis in most cases.
To establish criteria and procedures for early identification of children at risk of ASD and to facilitate full diagnostic assessment and prompt referral leading to adequate support. Early detection of ASD is extremely important, since early specific individualized treatment for the child and his or her family leads to long-term improvement in many children' prognosis.
Firstly, a critical appraisal of the situation of early detection of ASD in Spain is made after reviewing the scarce bibliography available on current screening and diagnostic practices in the country. Data generated by questionnaires received from 646 Spanish families is also taken into account. Secondly, the Study Group of the Instituto de Salud Carlos III recommends the screening and early diagnosis process to be followed, describing the necessary steps, the public services involved and the available screening and diagnostic tools.
The Study Group draws the main conclusions regarding the situation of ASD early detection in Spain, and makes a consensus proposal for the detection procedures, including routine developmental surveillance and identification of children at risk for ASD by using sensitive and specific assessment tools.
Revista de neurologia 41(4):237-45. · 0.65 Impact Factor
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M Belinchón-Carmona,
M Posada-De la Paz,
J Artigas-Pallarés,
R Canal-Bedia,
A Díez-Cuervo,
M J Ferrari-Arroyo,
J Fuentes-Biggi,
J M Hernández,
A Hervás-Zúñiga,
M A Idiazábal-Aletxa,
J Martos-Pérez,
F Mulas, J A Muñoz-Yunta,
S Palacios,
J Tamarit,
J R Valdizán
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ABSTRACT: INTRODUCTION: Achieving a better knowledge of autism and other pervasive developmental disorders known as autistic spectrum disorders (ASD), poses a major scientific challenge. These disorders are some of the earliest and most severe psychopathological disorders in infancy; they include an heterogeneous group of conditions; its prevalence rate seems to be continually increasing and they generate a significant social impact. AIMS AND DEVELOPMENT: Nowadays, there is a current international agreement on the general requirements to be fulfilled by research projects and the priority areas to be considered when developing ASD high quality research. In Spain, although there are some established research groups with broad experience and expertise in these disorders, public funding opportunities and research development are still scarce. For this reason, the Study Group of the Instituto de Salud Carlos III has generated by consensus some Good Practice Guidelines for Research in ASD. CONCLUSIONS: After comparing priorities and recommendations from international reference documents with the results obtained after having carried out an exhaustive bibliographic revision of articles published in autism in the last 30 years by Spanish authors, methodological and ethical recommendations are established. Finally, structural deficiencies to be corrected and emerging research initiatives to be supported are identified.
Revista de neurologia 41(6):371-7. · 0.65 Impact Factor
