Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus).

INTRODUCTION: Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by a biallelic mutation of the SMN1 gene, located on the long arm of chromosome 5, and predominantly affects the motor neurons of the anterior horn of the spinal cord, causing progressive muscle weakness and atrophy. The development of disease-modifying treatments is significantly changing the natural history of SMA, but uncertainty remains about which patients can benefit from these treatments and how that benefit should be measured. METHODOLOGY: A group of experts specialised in neurology, neuropediatrics, and rehabilitation and representatives of the Spanish association of patients with SMA followed the Delphi method to reach a consensus on 5 issues related to the use of these new treatments: general aspects, treatment objectives, outcome assessment tools, requirements of the treating centres, and regulation of their use. Consensus was considered to be achieved when a response received at least 80% of votes. RESULTS: Treatment protocols are useful for regulating the use of high-impact medications and should guide treatment, but should be updated regularly to take into account the most recent evidence available, and their implementation should be assessed on an individual basis. Age, baseline functional status, and, in the case of children, the type of SMA and the number of copies of SMN2 are characteristics that should be considered when establishing therapeutic objectives, assessment tools, and the use of such treatments. The cost-effectiveness of these treatments in paediatric patients is mainly influenced by early treatment onset; therefore, the implementation of neonatal screening is recommended. CONCLUSIONS: The RET-AME consensus recommendations provide a frame of reference for the appropriate use of disease-modifying treatments in patients with SMA.

[Use of extra-hospital emergency systems in the treatment of acute stroke in the region of Murcia. Possible repercussions on the urgent care of stroke patients]. / Utilización del sistema de emergencias extrahospitalario en el tratamiento del ictus agudo en la región de Murcia. Posible repercusión en la asistencia sanitaria urgente del ictus.

AIM: To examine the use of extra-hospital emergency systems in the urgent care of stroke patients in our region and their influence on the time required to reach hospital, the time needed to perform an urgent computerised axial tomography (CAT) scan and the delay in receiving attention from the specialist. PATIENTS AND METHODS: Samples were collected from 232 stroke patients out of the total number admitted to our hospitals. Data about the stroke were collected prospectively, and included the arrival time, the time required to perform the CAT scan and the time the specialist devoted to attending the patient. Data were also gathered about the different extra-hospital transport and emergency systems. A statistical analysis was performed to determine the effect of using the extra-hospital emergency procedures on the different variables. RESULTS: A total of 53.6% of patients arrived within the first three hours. 38.7% went straight to hospital, 25% visited extra-hospital Emergency Services first, and 18.5% made a prior visit to Primary Care. 51.5% found their own way to the hospital and 46.7% arrived by ambulance. Mean time taken to perform an urgent CAT scan: 190.4 minutes; mean time required for specialist attention: 25.65 hours. The only statistically significant relation was the use of extra-hospital emergency systems and health care transport according to the type of stroke: both were more likely to be used in cases of haemorrhagic stroke. CONCLUSIONS: In hospitals in the Murcia region, the use of the extra-hospital emergency system and the means of transport utilised do not affect the time stroke patients take to reach hospital or the time needed to perform an urgent CAT scan or the delay in receiving attention from a specialist; the aetiology of the stroke does, however, influence the use of such services.

Utilización del sistema de emergencias extrahospitalario en el tratamiento del ictus agudo en la región de Murcia. Posible repercusión en la asistencia sanitaria urgente del ictus / Use of extra-hospital emergency system in the treatment of acute stroke in the region of murcia. Possible repercussions on the urgent care of stroke patients

Objetivo. Utilización en nuestra región de los sistemas de urgencias extrahospitalarias en la atención urgente del ictus y su influencia en el tiempo de llegada al hospital, el de realización de la tomografía axial computarizada (TAC) urgente y demora de la atención por el especialista. Pacientes y métodos. Se recogieron muestras de 232 pacientes con ictus del total de los ingresados en nuestros hospitales. Prospectivamente se recogieron datos sobre el ictus, con inclusión de los tiempos de llegada, tiempo de realización de la TAC y tiempo de atención por el especialista. Se recogió el uso delos distintos sistemas de urgencias y transporte extrahospitalarios. Estadísticamente se analizó la influencia del uso de los dispositivos de urgencia extrahospitalarios en las distintas variables recogidas. Resultados. 53,6% de los pacientes llegaron en las tres primeras horas. 38,7% acudieron directamente al hospital, el 25% acude primero al Servicio de Urgencias extrahospitalarias y 18,5% consulta previamente con Asistencia Primaria. El 51,5% llegaron por sus propios medios y el 46,7% en ambulancia. Tiempo medio de TAC urgente: 190,4 minutos; tiempo medio de atención por el especialista:25,65 horas. La única relación estadísticamente significativa fue el uso del sistema de urgencias extrahospitalarias y transporte sanitario según el tipo de ictus, con más tendencia a utilizarlos en los ictus hemorrágicos. Conclusiones. En los hospitales de Murcia, el uso del sistema de urgencias extrahospitalarias y el medio de transporte empleado no influyen en el tiempo de llegada del ictus al hospital, en el tiempo de realización de TAC urgente ni en la demora de atención por el especialista, y sí influye en la utilización de dichos servicios la etiología del ictus (AU)

Aim. To examine the use of extra-hospital emergency systems in the urgent care of stroke patients in our region and their influence on the time required to reach hospital, the time needed to perform an urgent computerised axial tomography(CAT) scan and the delay in receiving attention from the specialist. Patients and methods. Samples were collected from 232stroke patients out of the total number admitted to our hospitals. Data about the stroke were collected prospectively, and included the arrival time, the time required to perform the CAT scan and the time the specialist devoted to attending the patient. Data were also gathered about the different extra-hospital transport and emergency systems. A statistical analysis was performed to determine the effect of using the extra-hospital emergency procedures on the different variables. Results. A total of 53.6% of patients arrived within the first three hours. 38.7% went straight to hospital, 25% visited extra-hospital Emergency Services first, and 18.5% made a prior visit to Primary Care. 51.5% found their own way to the hospital and 46.7% arrived by ambulance. Mean time taken to perform an urgent CAT scan: 190.4 minutes; mean time required for specialist attention: 25.65hours. The only statistically significant relation was the use of extra-hospital emergency systems and health care transport according to the type of stroke: both were more likely to be used in cases of haemorrhagic stroke. Conclusions. In hospitals in the Murcia region, the use of the extra-hospital emergency system and the means of transport utilised do not affect the time stroke patients take to reach hospital or the time needed to perform an urgent CAT scan or the delay in receiving attention from a specialist; the aetiology of the stroke does, however, influence the use of such services (AU)

[Foreign language syndrome as a first sign of multiple sclerosis]. / Sindrome del acento extranjero como primera manifestación de esclerosis múltiple.

INTRODUCTION: Foreign accent syndrome (FAS) is a little known disorder affecting language which has been described in a few cases after acute strokes or traumatic brain injuries, but until now has not been reported in multiple sclerosis (MS). It is characterised by the appearance of what is perceived to be a foreign accent in the language of the patient. Although it could be included within the dysprosodias that accompany motor aphasias, it should be considered as an entity in its own right, since it may appear without the accompanying aphasia. Aphasia is an infrequent manifestation of MS and even less so when it appears as an initial symptom of the disease. When it does occur it usually accompanies large demyelinating lesions in the dominant hemisphere, and it is usually of a motor type. CASE REPORT: Patient, aged 38 years, who presented FAS that accompanied mild non fluent aphasia as the first manifestation of MS with pseudotumoral lesions. Initially the clinical features were interpreted as a somatoform disorder, which delayed diagnosis. CONCLUSIONS: Like aphasia, FAS can occur in MS as a manifestation of a cortical language disorder. It is important to recognise this in order to prevent mistaken diagnoses.

Síndrome del acento extranjero como primera manifestación de esclerosis múltiple / foreign language syndrome as a first sign of multiple sclerosis

Introducción. El síndrome del acento extranjero (SAE) es un cuadro poco conocido de afectación del lenguaje que se ha descrito en unos pocos casos tras ictus agudos o traumatismos craneoencefálicos, y del que hasta ahora no se había informado en relación con la esclerosis múltiple (EM). Se caracteriza por la aparición en el lenguaje de lo que se percibe como un acento extranjero; aunque podría englobarse dentro de la disprosodias que acompañan a las afasias motoras, debería considerarse una entidad propia, ya que puede aparecer sin afasia acompañante. La afasia es una manifestación poco común de la EM, y todavía menos común como síntoma inicial de la enfermedad. Cuando se presenta, suele acompañar a grandes lesiones desmielinizantes en el hemisferio dominante, y suele ser de tipo motor. Caso clínico. Paciente de 38 años, que presentó un SAE, que acompañaba a un cuadro leve de afasia no fluente, como primera manifestación de una EM con lesiones pseudotumorales. Inicialmente, se consideró el cuadro como un trastorno somatomorfo, lo que retrasó el diagnóstico. Conclusiones. Como la afasia, el SAE puede darse en la EM como manifestación de un trastorno cortical del lenguaje. Es importante su reconocimiento para evitar errores diagnósticos (AU)