EEG abnormalities and clinical phenotypes in pre-school children with autism spectrum disorder.

BACKGROUND: Abnormalities on electroencephalography (EEG) results have been reported in a high percentage of children with Autism Spectrum Disorder (ASD). The purpose of this study was to explore the prevalence of EEG abnormalities in a clinical population of pre-school children with Autism Spectrum Disorder and the differences in terms of the following phenotypic characteristics: adaptive behavior, executive functioning, severity of Autism Spectrum Disorder core symptoms, and comorbidity symptoms. METHODS: A cross-sectional analysis of 69 children who attended the Autism Spectrum Disorder early diagnosis program with electroencephalography and clinical diagnosis was performed. A battery of questionnaires was also made to parents to evaluate emotions, behavior, and functional skills for daily living. RESULTS: Out of 69 pre-school children with Autism Spectrum Disorder, twenty nine (42%) had abnormalities in electroencephalography results. The group with abnormal epileptiform electroencephalography exhibited more impairment in executive functioning and social-relationship coexisting symptoms. CONCLUSIONS: The presence of an abnormal epileptiform electroencephalography in pre-school children with ASD already suggests a worse development in clinical features.

Recomendaciones sobre estudios neurofisiológicos en tiempos de pandemia de COVID-19 / Recommendations on neurophysiological studies during the COVID-19 pandemic

A finales de enero, la Organización Mundial de la Salud declaró el brote actual de la enfermedad por coronavirus COVID-19 como emergencia de salud pública de importancia internacional. En España, desde que el 14 de marzo de 2020 el Gobierno decretase el estado de alarma, los médicos encargados de las pruebas neurofisiológicas las hemos estado realizando sin tener un criterio consensuado ni unas pautas adecuadas de seguridad claras para los facultativos, los técnicos ni los pacientes. Las siguientes recomendaciones, basadas en el actual conocimiento de la enfermedad y, por tanto, susceptibles de variaciones en el futuro, se proponen cuando la pandemia parece que ha entrado en un proceso de disminución de la virulencia y, con ello, las medidas estrictas de confinamiento hasta ahora mantenidas; sin embargo, ante la posibilidad de una segunda oleada de rebrotes de la pandemia, parece necesario establecer unas recomendaciones básicas y de mínimos para respetar el derecho del paciente a una atención adecuada, similar a la previa a la pandemia, y mantener unos mínimos de seguridad para los propios pacientes y los médicos, técnicos y personal sanitario que realizan estas pruebas. Se trata de recomendaciones sobre el establecimiento de una prioridad basándose en el motivo de consulta, el establecimiento de llamadas de comprobación de la situación clínica del paciente antes de acudir a la consulta externa y las normas de ejecución de las pruebas neurofisiológicas, que se basan, en general, en la preservación de circuitos hospitalarios, el respeto y el cuidado de las barreras de contagio conocidas de esta enfermedad, y la utilización de material desechable. Estas recomendaciones son de especial interés, sobre todo por la incertidumbre de no saber la evolución de la infección por el SARS-CoV-2 en las próximas semanas o meses

At the end of January, the current outbreak of COVID-19 coronavirus disease was declared an important international public health emergency. In Spain, since the government declared the state of alarm on 14 March 2020, doctors responsible for carrying out neurophysiological tests have been performing them without any consensus criterion or clear safety guidelines for doctors, technicians or patients. The following recommendations, based on current knowledge of the disease and therefore liable to change in the future, are proposed when the pandemic appears to have entered a process of decreasing virulence and, with it, the strict containment measures established to date. However, in view of the possibility of a second wave of the pandemic, it seems necessary to establish basic and minimum recommendations to respect the patient's right to appropriate care, similar to that provided prior to the pandemic, and to maintain minimum safety standards for the patients themselves and for the doctors, technicians and health personnel carrying out these tests. These recommendations concern the constitution of a priority based on the reason for consultation, the establishment of calls to check the patient's clinical situation before going to the outpatient department and the rules for carrying out neurophysiological tests, which are generally based on the preservation of hospital circuits, respect for and observation of the known barriers to contagion of this disease, and the use of disposable material. These recommendations are of particular interest, especially given the uncertainty of not knowing the evolution of the SARS-CoV-2 infection in the coming weeks or months

Neuroplasticity and Epilepsy Surgery in Brain Eloquent Areas: Case Report.

Introduction: Neuronal plasticity includes changes in any component of the central nervous system in response to intrinsic or extrinsic stimuli. Brain functions that depend on the epileptogenic cortex pose a challenge in epilepsy surgery because many patients are excluded from pre-surgical evaluation for fear of the possible sequelae. Some of these patients may be rescued by enhancing neuronal plasticity with brain neuromodulation techniques. Case Report: We describe a 6-year-old child with refractory focal motor seizures symptomatic to a neuroepithelial dysembryoblastic tumor in the left temporo-parietal region. He underwent limited resection of the lesion in order to avoid sequelae in his language function. A functional study at age of 17 years revealed an overlap of Wernicke's area with the tumor and areas of incipient language reorganization in the contralateral hemisphere. An invasive neuromodulation procedure was designed to enhance neuroplasticity. After craniotomy, he underwent language training and simultaneous electrical inhibition of language using an electrode grid placed over the lesion. The intensity of the language inhibitory stimulus was increased every day to force the use of accessory language areas in the right hemisphere by neuroplasticity. Results: The language of the patient improved for six consecutive days until he was able to speak and understand while undergoing maximum electrical inhibition. The tumor was resected using a cortical mapping guide. Discussion: Application of direct cortical stimulation techniques and language pre-habilitation before epilepsy surgery can be useful to rescue patients excluded from resective surgery, especially young patients with long-term lesions.

Evaluación prequirúrgica mediante resonancia magnética funcional en pacientes con tumores neuroepiteliales disembrioplásicos: una serie de casos / Preoperative evaluation by functional magnetic resonance imaging in patients with dysembryoplastic neuroepithelial tumours: A case series

INTRODUCCIÓN: Los tumores neuroepiteliales disembrioplásicos (DNET) son un tipo de neoplasia glioneuronal benigna de localización típicamente temporal que producen crisis epilépticas resistentes al tratamiento farmacológico en niños y adultos jóvenes. OBJETIVO: Se muestran 4 casos valorando la utilidad de la resonancia magnética funcional en el estudio prequirúrgico de pacientes con tumores neuroepiteliales disembrionarios. Para la obtención de imágenes se utilizó un equipo de resonancia magnética Philipps Intera de 3.0 Tesla y la técnica Blood Oxygenation Level-Dependent, permitiendo localizar las áreas elocuentes de lenguaje y motora mediante la aplicación de paradigmas específicos. RESULTADOS: En un caso el tumor se encontraba adyacente al área de Broca, en 2 casos coincidía con Wernicke, en un paciente estaba menos de 1cm del área motora de la mano y en otro próximo a la memoria. Solo 2 de los pacientes fueron operados, no produciéndose déficit funcional postoperatorio. Se observó activación hemisférica contralateral al tumor sugestivo de neuroplasticidad en uno de los pacientes. CONCLUSIONES: La resonancia magnética funcional supone un método no invasivo que permite evaluar la proximidad de las lesiones a las áreas elocuentes, clave en la evaluación del riesgo quirúrgico. Además, ha permitido detectar probable neuroplasticidad en un caso, la cual ha garantizado el éxito de la cirugía

INTRODUCTION: Dysembryoplastic neuroepithelial tumours (DNET) are a type of benign glioneuronal neoplasia of typically temporal location that produce drug-resistant epileptic seizures in children and young adults. OBJECTIVE: This work aims to assess the usefulness of functional magnetic resonance imaging (fMRI) in the preoperative study in four patients with DNET. A Philips Intera 3.0 Tesla magnetic resonance imaging scanner and the Blood-Oxygen-Level-Dependent (BOLD) technique were used to obtain the images, making it possible to locate the eloquent areas for language and motor areas through the application of specific paradigms. RESULTS: In one case the tumour was adjacent to Broca's area, in two cases it coincided with Wernicke's area, in one patient it was < 1cm from the motor area for the hand and in another close to memory. Only two of the patients were operated on, without postoperative functional deficit. Hemispheric activation contralateral to the tumour suggestive of neuroplasticity was observed in one of the patients. CONCLUSIONS: fMRI is a non-invasive method that allows us to assess the proximity of lesions to eloquent areas, which is key in the evaluation of surgical risk. In addition, it allowed the detection of probable neuroplasticity in one case, which guaranteed the success of the surgery

Monitorización neurofisiológica intraoperatoria en cirugía raquimedular. Aspectos clínicos y médico-legales / Neurophysiological monitoring during spine and spinal cord surgery. Clinical and medico-legal issues

El objetivo de la monitorización neurofisiológica intraoperatoria es la detección de daño o alteración funcional en el sistema nervioso lo más precozmente posible, asegurando la funcionalidad medular, evitando las complicaciones neurológicas. Sin embargo, la falta de estandarización en la metodología, junto con cierta inconsistencia en los estudios sobre su utilidad, limita el establecimiento de unas recomendaciones universales para su utilización. El presente trabajo pretende revisar los procedimientos de monitorización neurofisiológica, sus fortalezas y debilidades, así como la conveniencia de su empleo en cirugía espinal. Concluimos que, con carácter general, su falta de uso en dicha cirugía no contraviene la «lex artis», pues no existe evidencia de que pueda ayudar en revertir el daño neurológico. Sin embargo, puede emplearse como elemento de prueba tanto para detectar el momento y el tipo de daño neurológico como para aumentar la defensibilidad. Se requieren protocolos de uso, bien por las sociedades científicas o por los propios centros hospitalarios

The purpose of neurophysiological monitoring during surgery is to identify damage or functional neurological disturbances as soon as possible, ensuring spinal cord functionality and avoiding neurological complications. However, the lack of standardisation of the methodology, together with some inconsistencies in the studies on its usefulness, limit the establishment of universal recommendations for its use. The present paper intends to review neurophysiological monitoring procedures during surgery, including their strength and weaknesses, as well as to assess the convenience of their use during spinal surgery. It is concluded that, in general, the lack of its use in this surgery does not legally contravene the standard of care, as there is no evidence it could result in reverting neurological damage. Nevertheless, it can be used as evidence both in detecting the time and kind of neurological injury, and for increasing the defensibility. Protocols of use, provided either by scientific societies or hospitals themselves, are required

Preoperative evaluation by functional magnetic resonance imaging in patients with dysembryoplastic neuroepithelial tumours: A case series. / Evaluación prequirúrgica mediante resonancia magnética funcional en pacientes con tumores neuroepiteliales disembrioplásicos: una serie de casos.

INTRODUCTION: Dysembryoplastic neuroepithelial tumours (DNET) are a type of benign glioneuronal neoplasia of typically temporal location that produce drug-resistant epileptic seizures in children and young adults. OBJECTIVE: This work aims to assess the usefulness of functional magnetic resonance imaging (fMRI) in the preoperative study in four patients with DNET. A Philips Intera 3.0 Tesla magnetic resonance imaging scanner and the Blood-Oxygen-Level-Dependent (BOLD) technique were used to obtain the images, making it possible to locate the eloquent areas for language and motor areas through the application of specific paradigms. RESULTS: In one case the tumour was adjacent to Broca's area, in two cases it coincided with Wernicke's area, in one patient it was<1cm from the motor area for the hand and in another close to memory. Only two of the patients were operated on, without postoperative functional deficit. Hemispheric activation contralateral to the tumour suggestive of neuroplasticity was observed in one of the patients. CONCLUSIONS: fMRI is a non-invasive method that allows us to assess the proximity of lesions to eloquent areas, which is key in the evaluation of surgical risk. In addition, it allowed the detection of probable neuroplasticity in one case, which guaranteed the success of the surgery.

Validación transcultural al castellano del Actionable Bladder Symptoms Screening Tool / Transcultural validation in Spanish of the Actionable Bladder Symptoms Screening Tool

Introducción. Los trastornos del tracto urinario inferior son frecuentes en pacientes con esclerosis múltiple a lo largo del transcurso de la enfermedad y alcanzan prevalencias variables cercanas al 75%. Es primordial realizar un diagnóstico precoz en fases tempranas y un abordaje terapéutico óptimo. Burks et al elaboraron el Actionable Bladder Symptoms Screening Tool (ABSST) como herramienta de cribado útil de dichos trastornos. Posteriormente, Bates et al desarrollaron una versión corta del ABSST con el objetivo de minimizar el tiempo de realización y facilitar su manejo. Objetivo. Realizar la validación transcultural al castellano de la versión breve del ABSST. Pacientes y métodos. Se realizó la traducción al castellano del ABSST y una posterior retrotraducción al inglés que confirmaba su equivalencia semántica. Se llevó a cabo una prueba de campo en 40 pacientes con esclerosis múltiple, incluyendo dos preguntas finales para comprobar la comprensión y aceptabilidad de la herramienta y un último ítem que recogía el tiempo empleado para su realización. Resultados: Se seleccionaron 40 pacientes conforme a los criterios de inclusión y exclusión; el 67,5% eran mujeres y la media global de edad era de 46,2 años. La comprensión del test fue del 100%, y la aceptabilidad, del 97,5%. El 57,5% obtuvo puntuaciones >= 3, y se emplearon 5,33 minutos de media. Conclusiones. El ABSST como cuestionario de cribado breve de trastornos urinarios en la esclerosis múltiple es una herramienta útil para su detección temprana y queda validado para su uso en castellano (AU)

Introduction. Disorders of the lower urinary tract are frequent in patients with multiple sclerosis throughout the course of the disease and reach variable prevalences close to 75%. It is essential to obtain an early diagnosis in the initial phases and to implement an optimal therapeutic management. Burks et al developed the Actionable Bladder Symptoms Screening Tool (ABSST) as a useful screening test in such disorders. Later, Bates et al developed a short version of the ABSST with the objective of minimising the time required to complete it and making it easier to use. AIMS. To carry out the transcultural validation into Spanish of the short version of the ABSST. Patients and Methods: The ABSST was translated into Spanish and then back-translated into English, which confirmed the semantic equivalence. A field test was conducted on 40 patients with multiple sclerosis, with two extra questions being included at the end in order to check the comprehension and acceptability of the tool, together with a final item that asked for the time spent on completing it. Results: Forty patients were selected In accordance with the eligibility and exclusion criteria; 67.5% of them were females and the overall mean age was 46.2 years. The rate of comprehension of the test was 100%, and that of acceptability was 97.5%. Results showed that 57.5% obtained scores >= 3, and an average of 5.33 minutes were spent on completing it. Conclusions: As a brief screening questionnaire for urinary disorders in multiple sclerosis, the ABSST is a useful tool for detecting them at an early stage and has now been validated for use in Spanish (AU)

Biomarkers in multiple sclerosis: an update for 2014.

Multiple sclerosis is a chronic, demyelinating and inflammatory disease of the central nervous system that mainly affects young adults. It is characterised by processes involving inflammation, demyelination and axonal destruction, and as a result the pathogenic aspects and response to treatment of the disease vary widely. It is therefore difficult to establish a prognosis for these patients or to determine the effectiveness of the different drugs that are employed. Current clinical research into the development of new biomarkers has advanced a great deal in recent years, especially in the early stages of the disease. Yet, it is essential to further our knowledge about novel markers of the disease, and not only in the more advanced stages, so as to be able to stop disability from progressing and to establish new therapy regimens in these patients. This review presents an update on the information available about the biomarkers that are currently validated and used in multiple sclerosis, together with the possible candidates for utilisation in routine clinical practice.

TITLE: Biomarcadores en la esclerosis multiple: puesta al dia 2014.La esclerosis multiple es una enfermedad cronica, desmielinizante e inflamatoria del sistema nervioso central, que afecta principalmente a adultos jovenes. Se caracteriza por procesos de inflamacion, desmielinizacion y destruccion axonal, que confieren a esta enfermedad una gran variabilidad en los aspectos patogenicos y de respuesta al tratamiento. Por ello es muy dificil establecer el pronostico de estos pacientes, asi como la eficacia de los diferentes farmacos. La investigacion clinica actual en el desarrollo de nuevos biomarcadores ha experimentado un gran avance en los ultimos años, especialmente al inicio de la enfermedad. Sin embargo, es prioritario avanzar en el conocimiento de nuevos marcadores de la enfermedad, no solo en la fase mas avanzada, con el objetivo de prevenir la progresion de la discapacidad y establecer nuevas pautas terapeuticas en estos pacientes. Esta revision presenta una actualizacion de la informacion acerca de los biomarcadores actualmente validados y utilizados en la esclerosis multiple, asi como de los posibles candidatos de utilizacion en la practica clinica habitual.

Biomarcadores en la esclerosis múltiple: puesta al día 2014 / Biomarkers in multiple sclerosis: an update for 2014

La esclerosis múltiple es una enfermedad crónica, desmielinizante e inflamatoria del sistema nervioso central, que afecta principalmente a adultos jóvenes. Se caracteriza por procesos de inflamación, desmielinización y destrucción axonal, que confieren a esta enfermedad una gran variabilidad en los aspectos patogénicos y de respuesta al tratamiento. Por ello es muy difícil establecer el pronóstico de estos pacientes, así como la eficacia de los diferentes fármacos. La investigación clínica actual en el desarrollo de nuevos biomarcadores ha experimentado un gran avance en los últimos años, especialmente al inicio de la enfermedad. Sin embargo, es prioritario avanzar en el conocimiento de nuevos marcadores de la enfermedad, no sólo en la fase más avanzada, con el objetivo de prevenir la progresión de la discapacidad y establecer nuevas pautas terapéuticas en estos pacientes. Esta revisión presenta una actualización de la información acerca de los biomarcadores actualmente validados y utilizados en la esclerosis múltiple, así como de los posibles candidatos de utilización en la práctica clínica habitual (AU)

Multiple sclerosis is a chronic, demyelinating and inflammatory disease of the central nervous system that mainly affects young adults. It is characterised by processes involving inflammation, demyelination and axonal destruction, and as a result the pathogenic aspects and response to treatment of the disease vary widely. It is therefore difficult to establish a prognosis for these patients or to determine the effectiveness of the different drugs that are employed. Current clinical research into the development of new biomarkers has advanced a great deal in recent years, especially in the early stages of the disease. Yet, it is essential to further our knowledge about novel markers of the disease, and not only in the more advanced stages, so as to be able to stop disability from progressing and to establish new therapy regimens in these patients. This review presents an update on the information available about the biomarkers that are currently validated and used in multiple sclerosis, together with the possible candidates for utilisation in routine clinical practice (AU)

The effectiveness of glatiramer acetate in clinical practice: an observational study.

AIM: To evaluate the clinical effectiveness and safety of glatiramer acetate for use in routine clinical practice. PATIENTS AND METHODS: A retrospective, observational study was conducted on patients with multiple sclerosis who were treated with glatiramer acetate in clinical practice. The primary outcome was the clinical effectiveness of glatiramer acetate treatment. RESULTS: The study included a total of 104 patients (women, 59.6%; age at onset of glatiramer acetate treatment, 39.9 ± 10.9 years; prior treatment for multiple sclerosis, 30.8%). The patients had received glatiramer acetate treatment for an average of 3.6 ± 1.9 years. During the first year of glatiramer acetate treatment, the relapse rate decreased by 60%. At this time, the number of relapses had decreased for 47 patients (45.1%), 67 patients (68.4%) had not suffered a relapse and 78 patients (75.0%) showed no signs of progression. During the second year of glatiramer acetate treatment, the relapse rate decreased by 70%. At this time, the number of relapses had decreased for 43 patients (41.3%), 63 patients (75.9%) had not suffered a relapse and 59 patients (56.7%) showed no signs of progression. There were no reported relapses or progression in 56 patients (53.8%) and 41 patients (39.4%) during the first and second years of treatment, respectively. Discontinuation of glatiramer acetate was necessary in only three patients. The most common adverse effects included fatigue (28.9%) and spasticity (7.7%). CONCLUSION: This evaluation of glatiramer acetate use in clinical practice supports the effectiveness and the safety profile observed in previously published clinical trial studies.

Seafood intoxication by tetrodotoxin: first case in Europe.

BACKGROUND: Tetrodotoxin is considered the most lethal toxin in the marine environment. Prior cases of intoxication previously described correspond to consumption of tetrodotoxin in tropical or subtropical regions of Asia or the Pacific Islands. OBJECTIVES: We present the first European case of tetrodotoxin intoxication in a patient who ingested part of a trumpet shellfish (Charonia sauliae) from the Atlantic Ocean in Southern Europe. CASE REPORT: Our patient suffered general paralysis, including the respiratory muscles, a few minutes after the consumption of a few grams of C. sauliae. Intubation and mechanical ventilation were necessary for 52 h after the intoxication. The corresponding electrophysiologic studies showed complete non-excitability, with no recordable sensory or motor nerve conduction. We detected the presence of tetrodotoxin in the mollusk and the patient's blood and urine by means of high-performance liquid chromatography-mass spectrometry analysis technique. A previous bioassay showed extremely high quantities of the toxin in the mollusk. CONCLUSIONS: This case alerts us to the possibility of a very harmful biotoxin in European coastal waters. This now should be included in the differential diagnosis of similar cases in Europe, and we must be vigilant for its possible presence in Europe.

HLA class II alleles in patients with multiple sclerosis in the Biscay province (Basque Country, Spain).

Genetic susceptibility to multiple sclerosis (MS) is associated with genes of the major histocompatibility complex, particularly with the HLA DRB1*1501-DQA1*0102-DQB1*0602 haplotype in Caucasians. To investigate the association of DRB1, DQA1 and DQB1 alleles and haplotypes with MS in Biscay, Basque Country, northern Spain, we examined 197 patients and 200 regionally matched controls. High resolution HLA class II typing was performed by polymerase chain reaction followed by sequence-specific oligonucleotide probe hybridization. Several alleles were overrepresented in MS patients compared with those of controls: DRB1*0402, DRB1*1303, DRB1*1501, DQA1*0102, DQB1*0301, and DQB1*0602. DQB1*0602 was the only potentially predisposing allele for MS that withstood Bonferroni correction and maintained the association in a logistic regression model. On the other hand, several alleles showed lower frequencies in the MS group: DRB1*0101, DQA1*0101, DQB1*0303, and DQB1*0501, but only DRB1*0101 and DQB1*0303 maintained a negative association with the disease in the regression analysis. Three haplotypes were identified as potentially predisposing for MS in our population: DRB1*1501-DQA1*0102-DQB1*0602, DRB1*0402-DQA1*0301-DQB1*0302, and HLA-DRB1*013-DQA1*05-DQB1*0301. Additionally, three haplotypes associated with a lower risk for MS were identified, exhibiting DRB1*0101-DQA1*0101-DQB1*0501 the strongest negative association with MS [12% in controls vs. 3.8% in MS, Pc = 0.00047, OR = 0.290 (95% CI = 0.160­0.528)], and suggesting, therefore, a putative protective role for this haplotype in the population under study.