[Breath-holding spell or epileptic seizure? A description of three girls with epileptic seizures triggered by anoxia]. / ¿Espasmo del sollozo prolongado o crisis epiléptica?: descripción de tres niñas con crisis epilépticas desencadenadas por anoxia.

TITLE: ¿Espasmo del sollozo prolongado o crisis epiléptica?: descripción de tres niñas con crisis epilépticas desencadenadas por anoxia.

Cortical Blindness in a Child Secondary to Mycoplasma pneumoniae Infection.

Our objective is to present a case of an uncommon complication associated with Mycoplasma pneumoniae infection in a child where cortical blindness was the main clinical feature. Stroke due to an infection by M. pneumoniae is very uncommon. No consensus has been reached on the pathogenesis, although several pathogenic mechanisms have been proposed. Occlusion of posterior cerebral circulation is the most uncommon central nervous system complication of M. pneumoniae infection being reported. Symptoms are usually hemiplegia and dysarthria. We report a case of a 6-year-old boy who suffered cortical blindness due to a stroke 2 days after M. pneumoniae infection. This is the first case of documented cortical blindness due to posterior cerebral arteries occlusion in children after M. pneumoniae infection.

[Neuropsychological alterations are frequent in rolandic epilepsy and its atypical developments]. / Las alteraciones neuropsicologicas son frecuentes en la epilepsia rolandica y sus evoluciones atipicas.

INTRODUCTION: Rolandic epilepsy or benign childhood epilepsy with centrotemporal spikes is called benign because its seizures are usually favourable and due to the spontaneous normalisation of the electroencephalogram on reaching puberty. Nevertheless, evidence has been found of the impact on cognitive development with the presence of heterogeneous cognitive deficits, especially related to persistent intercritical discharges during non-REM sleep. The aim of this study is to examine the epileptogenic networks involved in the neuropsychological disorders of this pathology. DEVELOPMENT: A common feature of the atypical developments is persistent epileptic activity during slow sleep, which plays an important role in the development of the neurocognitive deficits that are associated to this pathology. Factors such as the age at onset of the epilepsy, the onset of the atypical development, the location of the interictal discharges and the continuous epileptic activity during sleep that persists for more than two years can trigger changes in the functioning of the neurocognitive networks. This may result in deficits in the neuropsychological functions, which may even be irreversible. CONCLUSIONS: A close clinical and electroencephalographic follow-up is necessary. Moreover, formal neuropsychological studies must be conducted as of the onset of benign childhood epilepsy with centrotemporal spikes. This is even more necessary in cases in which there is an obvious atypical development in order to detect and prevent the neuropsychological deficits before they establish themselves on a definitive basis.

TITLE: Las alteraciones neuropsicologicas son frecuentes en la epilepsia rolandica y sus evoluciones atipicas.Introduccion. La epilepsia rolandica o epilepsia benigna de la infancia con puntas centrotemporales se denomina benigna debido a lo favorables que suelen ser sus crisis y a la espontanea normalizacion del electroencefalograma al llegar a la pubertad, aunque se ha demostrado el impacto sobre el desarrollo cognitivo con la presencia de deficits cognitivos heterogeneos, relacionados especialmente con las descargas intercriticas persistentes durante el sueño no REM. El objetivo de este trabajo es estudiar las redes epileptogenas involucradas en los trastornos neuropsicologicos de esta patologia. Desarrollo. Las evoluciones atipicas tienen en comun una actividad epileptica persistente durante el sueño lento, que desempeña un papel importante en el desarrollo de los deficits neurocognitivos que se asocian a esta patologia. Factores como la edad de inicio de la epilepsia, el inicio de la evolucion atipica, la localizacion de las descargas interictales y la actividad epileptica continua durante el sueño que persista durante mas de dos años pueden provocar cambios en el funcionamiento de las redes neurocognitivas, con los consecuentes deficits en las funciones neuropsicologicas, que incluso pueden resultar irreversibles. Conclusiones. Es necesario un seguimiento cercano tanto clinico como electroencefalografico; ademas, deben realizarse estudios neuropsicologicos formales desde el inicio de la epilepsia benigna de la infancia con puntas centrotemporales y mas en los casos que es evidente una evolucion atipica para detectar y prevenir los deficits neuropsicologicos antes de que se instauren definitivamente.

[Use of benzodiazepines in prolonged seizures and status epilepticus in the community]. / Uso benzodiacepinas en crisis prolongadas y estado epiléptico en la comunidad.

Prolonged seizures and status epilepticus are common neurological medical emergencies. Early and appropriate treatment is essential to reduce morbidity and mortality. Most seizures occur in the community, so parents and caregivers must be prepared for their management. Benzodiazepines (BZD) are the first-line drugs used, with rectal diazepam (DZPr) being the most commonly used in pre-hospital treatment in Spain. In September 2011, the European Medicines Agency (EMA) authorized the use of oromucosal midazolam (MDZb) for the treatment of prolonged acute convulsive seizures in patients aged 3 months to <18 years. MDZb has a rapid onset, short duration of effect, and avoids first-pass hepatic metabolism. MDZb has shown to be at least as or more effective than DZPr to stop the seizures. Buccal administration is easier and more socially accepted, especially in adolescents and adults. It is a safe drug with similar effects to other BZD; MDZb improves the overall cost-effectiveness of seizures management.

Uso benzodiacepinas en crisis prolongadas y estado epiléptico en la comunidad / Use of benzodiazepines in prolonged seizures and status epilepticus in the community

Las crisis prolongadas y el estado epiléptico son emergencias médicas neurológicas frecuentes y su tratamiento adecuado y precoz es fundamental para reducir su morbi-mortalidad. La mayoría de las crisis se inician en un medio extrahospitalario, lo que obliga a familiares y cuidadores a estar preparados en las medidas de actuación iniciales ante una crisis convulsiva. En su manejo, las benzodiacepinas (BZD) son los fármacos de primera línea, siendo el uso de diazepam rectal (DZPr) el más extendido en el ámbito prehospitalario en España. La Agencia Europea del Medicamento (EMA) autorizó en septiembre del 2011 el empleo de midazolam bucal (MDZb) para el manejo de las crisis epilépticas repetidas en pacientes entre los 3 meses y 18 años. Es un fármaco de acción rápida por evitar la metabolización hepática y con efecto de corta duración. MDZb ha demostrado al menos igual o mayor eficacia que el DZPr y la vía de administración bucal es más sencilla y mejor aceptada socialmente, sobre todo en adolescentes y adultos. Es un fármaco seguro, con efectos adversos similares a otras BZD. Estudios de farmacoeconomía demuestran un buen coste-efectividad global en el manejo de las crisis frente al DZPr, reduciendo traslados en ambulancia e ingresos hospitalarios

Prolonged seizures and status epilepticus are common neurological medical emergencies. Early and appropriate treatment is essential to reduce morbidity and mortality. Most seizures occur in the community, so parents and caregivers must be prepared for their management. Benzodiazepines (BZD) are the first-line drugs used, with rectal diazepam (DZPr) being the most commonly used in pre-hospital treatment in Spain. In September 2011, the European Medicines Agency (EMA) authorized the use of oromucosal midazolam (MDZb) for the treatment of prolonged acute convulsive seizures in patients aged 3 months to < 18 years. MDZb has a rapid onset, short duration of effect, and avoids first-pass hepatic metabolism. MDZb has shown to be at least as or more effective than DZPr to stop the seizures. Buccal administration is easier and more socially accepted, especially in adolescents and adults. It is a safe drug with similar effects to other BZD; MDZb improves the overall cost-effectiveness of seizures management

Manejo de la crisis convulsiva prolongada en la comunidad: resultados del estudio PERFECT en España / Management of prolonged convulsive seizures in the community: Results of the PERFECT™ study in Spain

INTRODUCCIÓN: La Iniciativa Practices in Emergency and Rescue medication For Epilepsy managed with Community administered Therapy (PERFECT(TM)) se inició en 2011 con el objetivo de conocer mejor cómo se tratan las crisis convulsivas prolongadas y cómo se administra la medicación de rescate en la comunidad en Europa. Este artículo analiza sus resultados iniciales en España. MATERIAL Y MÉTODOS: Revisión de las guías clínicas, guías para colegios y marco legal relevante sobre el tratamiento de las crisis convulsivas prolongadas y una encuesta a 20 profesionales sanitarios que tratan a niños con crisis convulsivas prolongadas en España. RESULTADOS: Las guías clínicas existentes abordan principalmente el ámbito hospitalario y contienen poca información sobre cómo deben tratarse las crisis convulsivas prolongadas en la comunidad. Las recomendaciones para los colegios no son claras respecto a si los profesores, que no tienen la obligación legal de administrar la medicación de rescate a los niños que tienen a su cargo, pueden o deben administrarla. Esta incertidumbre determina que la administración de medicación de rescate al niño con una crisis convulsiva prolongada durante el horario escolar dependa los recursos y de la formación disponibles en cada colegio. CONCLUSIONES: Es necesario contar con guías explícitas que aborden los ámbitos educativo y sanitario, información más clara para padres y colegios, y formación más sistemática a disposición de los cuidadores. Ello facilitará que todos los niños con riesgo de presentar crisis convulsivas prolongadas reciban el tratamiento de rescate apropiado, independientemente del lugar en el que ocurra la crisis

INTRODUCTION: The Practices in Emergency and Rescue medication For Epilepsy managed with Community administered Therapy (PERFECT(TM)) Initiative was set up in 2011 to gain a better understanding of how prolonged convulsive seizures are managed, and rescue medication is administered, in out-of-hospital settings across Europe. This paper explores the initial research findings for Spain. MATERIAL AND METHODS: A review was made of existing clinical guidelines, guidance to schools, and relevant policy and legal frameworks, as well as a survey of 20 healthcare professionals who treat children with prolonged convulsive seizures in Spain. RESULTS: Existing clinical guidelines pertain mainly to the hospital setting, and contain very little information on how prolonged seizures should be managed outside of the hospital. Guidance for schools is unclear as to whether teachers are allowed to administer rescue medication to children, and there is no legal obligation for school staff to administer medication to children under their care. As a result of such uncertainty, whether or not children who experience prolonged seizures receive their rescue medication during school hours depends mostly on the resources and training available in each school. CONCLUSIONS: There is a need for more explicit guidance covering educational and healthcare settings, clearer information to parents and schools, and more systematic training to be made available to caregivers. This is to ensure that all children at risk of a prolonged convulsive seizure receive rescue medication in a timely manner, regardless of where their seizure occurs

[Management of prolonged convulsive seizures in the community: results of the PERFECT™ study in Spain]. / Manejo de la crisis convulsiva prolongada en la comunidad: resultados del estudio PERFECT en España.

INTRODUCTION: The Practices in Emergency and Rescue medication For Epilepsy managed with Community administered Therapy (PERFECT™) Initiative was set up in 2011 to gain a better understanding of how prolonged convulsive seizures are managed, and rescue medication is administered, in out-of-hospital settings across Europe. This paper explores the initial research findings for Spain. MATERIAL AND METHODS: A review was made of existing clinical guidelines, guidance to schools, and relevant policy and legal frameworks, as well as a survey of 20 healthcare professionals who treat children with prolonged convulsive seizures in Spain. RESULTS: Existing clinical guidelines pertain mainly to the hospital setting, and contain very little information on how prolonged seizures should be managed outside of the hospital. Guidance for schools is unclear as to whether teachers are allowed to administer rescue medication to children, and there is no legal obligation for school staff to administer medication to children under their care. As a result of such uncertainty, whether or not children who experience prolonged seizures receive their rescue medication during school hours depends mostly on the resources and training available in each school. CONCLUSIONS: There is a need for more explicit guidance covering educational and healthcare settings, clearer information to parents and schools, and more systematic training to be made available to caregivers. This is to ensure that all children at risk of a prolonged convulsive seizure receive rescue medication in a timely manner, regardless of where their seizure occurs.

Enfermedades neurológicas complejas. Atención neuropediátrica del Hospital Universitario La Paz, de Madrid / Complex neurological diseases. Neuropediatric care of the Hospital Universitario la Paz of Madrid

La neurología pediátrica es una especialidad pediátrica plenamente implantada en España que se encarga de la atención a los niños y adolescentes con problemas neurológicos. En el Hospital Infantil Universitario la Paz se atienden toda la patología neurológica general disponiendo además de varias unidades multidisciplinarias que atienden problemas neurológicos específicos y también aspectos neurológicos de muchas enfermedades raras. Entre ellas destacan las epilepsias refractarias, neurología neonatal, trastornos del sueño, espasticidad grave, trastornos del movimiento, neurofibromatosis NF1, trastornos del neurodesarrollo, parálisis braquial obstétrica, patología neuromuscular, ataxias hereditarias y paraplejía espática familiar (AU)

The paediatric neurology is a specility paediatric fully operational in Spain that is responsible for the care of children and adolescents with neurological problems. At University Children´s Hospital La Paz will attend all general neurologic pathology also having several multidisciplinary units serving specific neurological problems and neurological aspects of many rare diseases. These include refractory epilepsy, neonatal neurology, sleep disorders, severe spasticity movements disorders, neurofibromatosis NF1, neurodevelopmental disorders, congenital brachial palsy, neuromuscular disease, hereditary ataxias and familial spastic paraplegia (AU)

Aciduria D-glicérica. A propósito de un caso y revisión de la bibliografía / D-glyceric acidemia: case report and literature review

Introducción: Las acidemias orgánicas son un grupo de enfermedades caracterizadas por la excreción aumentada de ácidos orgánicos en la orina. Dentro de este grupo se encuentra la aciduria D-glicérica, trastorno infrecuente y del que hay pocos casos referidos en la bibliografía médica. Caso clínico: Presentamos el caso de una niña de 2 meses de edad, que acudió a nuestra consulta por la presencia de crisis generalizadas con un patrón electroencefalográfico (EEG) de brote-supresión y posterior retraso psicomotor. Al realizar el cribado de enfermedades metabólicas, se detectaron valores de ácido D-glicérico en orina de 216 m mol/mol creatinina (valores normales: <26), compatibles con aciduria D-glicérica. Las imágenes obtenidas mediante resonancia magnética craneal (hipoplasia del cuerpo calloso y atrofia generalizada) no mostraron hallazgos específicos. En su evolución, la paciente presentó un retraso psicomotor moderado-grave, una diparesia espástica y una epilepsia resistente a fármacos. La aciduria D-glicérica es una entidad con una clínica muy heterogénea; en algunas ocasiones se presenta como un hallazgo casual en pacientes asintomáticos u oligosintomáticos, y en otras en niños con profunda encefalopatía. Se han descrito casos con respuesta parcial a una dieta restringida en fructosa, aunque dicha mejoría clínica no se produjo en el presente caso. Esta etiología se debería plantear en el diagnóstico diferencial de los niños que presenten una encefalopatía progresiva, EEG tipo salva-supresión, hipotonía y epilepsia multifocal (AU)

Introduction: Organic acidemias are a group of diseases characterized by the increased excretion of organic acids in urine. That group includes D-glyceric acidemia, an uncommon disorder, with only a scarce number of cases reported in medical literature. Clinical case: We present the case of a two-month old girl brought to our surgery suffering from generalised seizures with an electroencephalic burst-suppression pattern and subsequent psychomotor retardation. After testing for metabolic diseases D-glyceric acid values in urine of 216 m mol/mol creatinine (nv: <26) compatible with D-glyceric aciduria were objectified. Cranial MR images were obtained (hypoplasia of corpus callosum and generalised atrophy) and did not reveal any specific findings. As the condition progressed, the patient showed moderate-severe psychomotor retardation, spastic diparesis and drug-resistant epilepsy. D-glyceric acidemia is an entity with very heterogeneous clinical manifestations, which in some cases appears as achance finding in asymptomatic or oligosymptomatic patients and in other cases appears in children with profound encephalopathy. There are reports of cases that show a partial response to fructose-restricted diets, but that clinical improvement did not occur in the case of our patient. This a etiology should be considered in the differential diagnosis of children who present with progressive encephalopathy, a burst suppression-type EEG, hypotonia and multifocal epilepsy (AU)

Narcolepsia con y sin cataplejia: una enfermedad rara, limitante e infradiagnosticada / Narcolepsy with and without cataplexy: An uncommon disabling and unrecognized disease

Aunque la narcolepsia es una enfermedad relativamente rara, su impacto en la vida del niño puede ser considerable. La narcolepsia está caracterizada por somnolencia diurna excesiva (SDE), con “ataques de sueño” en momentos inapropiados, y habitualmente acompañada de cataplejia (pérdida brusca del tono muscular y caída al suelo, frecuentemente desencadenada por risa, con preservación de la conciencia). Otros síntomas asociados son las parálisis del sueño (sensación de imposibilidad para moverse o hablar sin pérdida de conciencia), las alucinaciones hipnagógicas (sueños “vividos”, con experiencias difíciles de distinguir de la realidad) o el sueño nocturno fragmentado. Algunos niños también tienen síntomas depresivos y sobrepeso-obesidad. Esta enfermedad se ha estudiado ampliamente, pero la causa exacta no se conoce con precisión. En la narcolepsia parece existir un trastorno de las estructuras cerebrales responsables de los mecanismos de vigilia y sueño, que implica al hipotálamo dorsolateral y la hipocretina. Aunque se ha postulado un origen genético, existe una baja prevalencia de casos familiares. En términos generales, se piensa que existe una etiología multifactorial: un grupo de genes se combina con factores externos y causa finalmente la enfermedad. El tratamiento eficaz de la narcolepsia requiere no solo medicación (estimulantes, antidepresivos y oxibato sódico, principalmente) sino también realizar algunos ajustes en la vida diaria, mediante siestas programadas. El tratamiento de esta enfermedad en los niños exige un abordaje integral del paciente, que incluye un diagnóstico correcto, un tratamiento farmacológico y no farmacológico y ajustes en el entorno. Estas medidas pueden mejorar la autoestima del niño y la capacidad para conseguir una buena escolarización (AU)

Although narcolepsy is a relatively uncommon condition, its impact on a child's life can be dramatic and disabling. Narcolepsy is characterized by excessive daytime sleepiness (EDS), with brief "sleep attacks" at very unusual times and usually associated with cataplexy (sudden loss of muscle control while awake, resulting in a fall, triggered by laughter). Other symptoms frequently reported are sleep paralysis (feeling of being unable to move or speak, even totally aware), hypnagogic hallucinations (vivid dreamlike experiences difficult to distinguish from reality) or disturbed night time sleep. Some children also experience depression or overweight-obesity. Although narcolepsy has been thoroughly studied, the exact cause is unknown. It appears to be a disorder of cerebral pathways that control sleep and wakefulness, involving dorsolateral hypothalamus and hypocretin. A genetic factor has been suggested, but narcolepsy in relatives is rare. Researchers have suggested that a set of genes combines with additional factors in a person's life to cause narcolepsy. The effective treatment of narcolepsy requires not only medication (usually stimulants, antidepressants and sodium oxybate), but also adjustments in life-style (scheduled naps).Management of this condition in children demands a comprehensive approach to the patient, that includes a correct diagnosis, pharmacological and non-pharmacological treatment and adjustments in the environment. These strategies can improve the child's self-esteem and ability to obtain a good education (AU)

[Narcolepsy with and without cataplexy: an uncommon disabling and unrecognized disease]. / Narcolepsia con y sin cataplejia: una enfermedad rara, limitante e infradiagnosticada.

Although narcolepsy is a relatively uncommon condition, its impact on a child's life can be dramatic and disabling. Narcolepsy is characterized by excessive daytime sleepiness (EDS), with brief "sleep attacks" at very unusual times and usually associated with cataplexy (sudden loss of muscle control while awake, resulting in a fall, triggered by laughter). Other symptoms frequently reported are sleep paralysis (feeling of being unable to move or speak, even totally aware), hypnagogic hallucinations (vivid dreamlike experiences difficult to distinguish from reality) or disturbed night time sleep. Some children also experience depression or overweight-obesity. Although narcolepsy has been thoroughly studied, the exact cause is unknown. It appears to be a disorder of cerebral pathways that control sleep and wakefulness, involving dorsolateral hypothalamus and hypocretin. A genetic factor has been suggested, but narcolepsy in relatives is rare. Researchers have suggested that a set of genes combines with additional factors in a person's life to cause narcolepsy. The effective treatment of narcolepsy requires not only medication (usually stimulants, antidepressants and sodium oxybate), but also adjustments in life-style (scheduled naps). Management of this condition in children demands a comprehensive approach to the patient, that includes a correct diagnosis, pharmacological and non-pharmacological treatment and adjustments in the environment. These strategies can improve the child's self-esteem and ability to obtain a good education.

[Coding in neuropediatrics based on the International Classification Diseases, 9th revision (ICD-9), 5th edition (2006)]. / Codificación en neurología pediátrica basada en la Clasificación Internacional de Enfermedades, 9.(a) revisión (CIE-9), 5.(a) edición (2006).

AIMS: To analyze International Classification Diseases, 9th revision (ICD-9) coding and adapt it, on a consensus basis, to 'reasons for medical consultation', 'diagnoses' and 'procedures' in child neurology. MATERIALS AND METHODS: The most frequent reasons for medical consultation, diagnoses and procedures in neuropediatrics were selected and assigned the most appropriate ICD-9, Clinical Modification (5th ed.) (ICD-9-CM) codes in accordance with this system's coding rules. Disorders were grouped by sections, and allocated to the various members of the working group (13 child neurologists from 10 hospitals in Madrid and environs). RESULTS: Available on the web www.neurologia.com/cie-9. ICD-9-CM codes were assigned to: 158 reasons for medical consultation; 886 diagnoses; 73 diagnostic procedures; and 53 therapeutic procedures. In every case, the most appropriate ICD-9 code was sought for the respective diagnosis. No codes were invented but the working group did take certain liberties with interpretation, which nevertheless showed respect for general ICD-9-CM philosophy and are described in full in the text. CONCLUSIONS: The creation of this ICD-9 adaptation will not only enhance diagnostic coding in child neurology departments, but will also provide them with a useful tool for setting up databases to enable information to be retrospectively analyzed and shared by the different health centers.

Codificación en neurología pediátrica basada en la Clasificación Internacional de Enfermedades, novena revisión (CIE-9), quinta edición (2006) / Coding in neuropediatrics based on the international classification diseases, 9 th revision (ICD-9), 5 th edition ( 2006)

Objetivos. Análisis y adaptación consensuada de la codificación de la Clasificación Internacional de Enfermedades, 9.ª revisión (CIE-9), a los motivos de consulta, diagnósticos y procedimientos en neurología pediátrica. Materiales y métodos. Se seleccionan los motivos de consulta, diagnósticos y procedimientos más frecuentes en neuropediatría y se les asignael código más apropiado de la CIE-9-MC (5.ª ed.) según las normas de codificación de dicho sistema. Se han agrupado las patologías por secciones, las cuales se han adjudicado a los distintos miembros del grupo de trabajo (13 neurólogos pediátricos de 10 hospitales de Madrid capital y área periférica). Resultados. Se exponen en www.neurologia.com/cie-9. Se han asignadocódigos de la CIE-9-MC (5.ª ed.) a 158 motivos de consulta, 886 diagnósticos, 73 procedimientos diagnósticos y 53 procedimientos terapéuticos. Siempre se ha intentado buscar el código de la CIE-9 más apropiado para los distintos diagnósticos.No se han inventado códigos, aunque el grupo de trabajo se ha tomado algunas libertades de interpretación que respetan la filosofía general de la CIE-9-MC y que se describen en el texto. Conclusión. La creación de esta adaptación de la CIE-9 potenciará la codificación diagnóstica en los servicios de neurología pediátrica, dotándolos además de una herramienta útil parala elaboración de bases de datos que permitan el análisis retrospectivo de la información, y compartirla entre los distintos centros

Aims. To analyze International Classification Diseases, 9th revision (ICD-9) coding and adapt it, on a consensusbasis, to ‘reasons for medical consultation’, ‘diagnoses’ and ‘procedures’ in child neurology. Materials and methods. The most frequent reasons for medical consultation, diagnoses and procedures in neuropediatrics were selected and assigned themost appropriate ICD-9, Clinical Modification (5th ed.) (ICD-9-CM) codes in accordance with this system’s coding rules. Disorders were grouped by sections, and allocated to the various members of the working group (13 child neurologists from 10 hospitals in Madrid and environs). Results. Available on the web www.neurologia.com/cie-9. ICD-9-CM codes were assigned to: 158 reasons for medical consultation; 886 diagnoses; 73 diagnostic procedures; and 53 therapeutic procedures. In every case, the most appropriate ICD-9 code was sought for the respective diagnosis. No codes were invented but the workinggroup did take certain liberties with interpretation, which nevertheless showed respect for general ICD-9-CM philosophy and are described in full in the text. Conclusions. The creation of this ICD-9 adaptation will not only enhance diagnostic coding in child neurology departments, but will also provide them with a useful tool for setting up databases to enable information to beretrospectively analyzed and shared by the different health centers

Enfermedad celíaca. Alteraciones neurológicas y psiquiátricas / No disponible

No disponible

[Evaluation of the diagnosis and treatment of children with attention deficit hyperactivity disorder in Spain using the Achievable Benchmarks of Care (ABC) technique]. / Evaluación del diagnóstico y tratamiento de los niños con trastorno por déficit de atención/hiperactividad en España mediante la técnica Achievable Benchmarks of Care (ABC).

INTRODUCTION AND AIMS: Attention deficit hyperactivity disorder (ADHD) is currently of great interest to the public and the diagnostic process, evaluation of the follow-up and therapeutic strategies in these patients are the subject of a fierce debate. In this study we assess compliance with the ADHD diagnostic and therapeutic guidelines in Spain, in relation to the American Academy of Pediatrics (AAP) guidelines, and it is measured using the Achievable Benchmarks of Care (ABC) technique. SUBJECTS AND METHODS: The study involved 215 specialists, 138 child and youth psychiatrists, and 77 neuropaediatricians. Questions were selected to elicit responses on compliance with the AAP diagnostic (1 to 5) and therapeutic (1 to 5) guidelines. The ABC technique, developed at the University of Alabama, Birmingham, USA, was applied for the analysis. RESULTS: The degree of compliance with the diagnostic guidelines was: guideline 2, 63.1% (ABC 100%), guidelines 3 and 4, 65.8% (ABC 100%) and guideline 5, 87% (ABC 100%); and in the treatment guidelines: guideline 2, 87.1% (ABC 100%) and guideline 3, 71.2% (ABC 100%). CONCLUSIONS: Compliance with the AAP guidelines for treating patients with ADHD is higher than observance of the diagnostic guidelines. In 10% of the best centres (ABC) compliance reaches 100% of all the guidelines, a high degree of adherence to the US guidelines, although compliance with them is not mandatory in our clinical area.

Evaluación del diagnóstico y tratamiento de los niños con trastorno por déficit de atención/hiperactividad en España mediante la técnica Achievable Benchmarks of Care (ABC) / Evaluation of the diadnosis and treatment of children with attention deficit hyperactivity disorder in Spain using the achievable benchmark of care (ABD) technique

Introducción y objetivos. Observamos un gran interés público hacia el trastorno por déficit de atención/hiperactividad (TDAH) con un intenso debate sobre el proceso diagnóstico, la evaluación del seguimiento y las estrategias terapéuticasen estos pacientes. En este estudio valoramos el cumplimiento de las recomendaciones diagnósticas y terapéuticas en el TDAH en España, en relación con las recomendaciones de la Academia Americana de Pediatría (AAP), y lo cuantificamos mediante la técnica Achievable Benchmarks of Care (ABC). Sujetos y métodos. Participaron en el estudio 215 especialistas, 138 psiquiatras infantojuveniles y 77 neuropediatras. Las preguntas fueron seleccionadas para responder al cumplimiento de las recomendaciones para el diagnóstico (1 a 5) y tratamiento (1 a 5) de la AAP. Se aplicó para el análisis la técnica ABC, de la Universidad de Alabama, Birmingham, EE. UU. Resultados. El grado de cumplimiento de las recomendaciones diagnósticas fue: recomendación 2, 63,1% (ABC 100%), recomendaciones 3 y 4, 65,8% (ABC 100%), y recomendación 5, 87% (ABC 100%); y en las recomendaciones de tratamiento: recomendación 2, 87,1% (ABC 100%), y recomendación 3, 71,2% (ABC 100%). Conclusiones. El seguimiento de las recomendaciones de la AAP para el tratamiento de los pacientescon TDAH es mayor que el seguimiento de las recomendaciones diagnósticas. En el 10% de los mejores centros (ABC) se alcanza un cumplimiento de un 100% de todas las recomendaciones, un elevado grado de adherencia a las recomendaciones estadounidenses, aun no siendo de obligado cumplimiento en nuestro ámbito clínico

Introduction and aims. Attention deficit hyperactivity disorder (ADHD) is currently of great interest to the public and the diagnostic process, evaluation of the follow-up and therapeutic strategies in these patients are the subject of a fierce debate. In this study we assess compliance with the ADHD diagnostic and therapeutic guidelines in Spain, in relation to theAmerican Academy of Pediatrics (AAP) guidelines, and it is measured using the Achievable Benchmarks of Care (ABC)technique. Subjects and methods. The study involved 215 specialists, 138 child and youth psychiatrists, and 77 neuropaediatricians. Questions were selected to elicit responses on compliance with the AAP diagnostic (1 to 5) and therapeutic (1 to 5) guidelines. The ABC technique, developed at the University of Alabama, Birmingham, USA, was applied for the analysis. Results. The degree of compliance with the diagnostic guidelines was: guideline 2, 63.1% (ABC 100%), guidelines 3 and 4, 65.8% (ABC 100%) and guideline 5, 87% (ABC 100%); and in the treatment guidelines: guideline 2, 87.1% (ABC 100%) and guideline 3, 71.2% (ABC 100%). Conclusions. Compliance with the AAP guidelines for treating patients with ADHD is higher than observance of the diagnostic guidelines. In 10% of the best centres (ABC) compliance reaches 100% of all the guidelines, a high degree of adherence to the US guidelines, although compliance with them is not mandatory in our clinical area

Pseudotumor cerebri secundario a tratamiento con risperidona / Pseudotumor cerebri as side effect of treatment with risperidone

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Epilepsia mioclónica benigna del lactante: un caso curioso / Benign myoclonic epilepsy- a curious case report

Introducción. La epilepsia mioclónica benigna del lactante es una entidad poco frecuente que forma parte del grupo de las epilepsias y los síndromes epilépticos generalizados. Últimamente, han aparecido dudas sobre si su carácter es realmente benigno, con algunas descripciones de casos de afectación del desarrollo psicomotor cuando la terapia se inicia tarde. El diagnóstico diferencial se puede asociar con enfermedades epilépticas y no epilépticas, y es importante descartarla de las primeras por la gravedad que acarrean. Las mioclonías benignas de Lombroso y Fejerman son las enfermedades no epilépticas que más problemas de diagnóstico diferencial comportan. Los defectos congénitos de la bóveda craneal son bastante raros y, a veces, están asociados a otras malformaciones. Cuando se presentan de manera aislada, son excepcionales, registrándose casos familiares. Caso clínico. Lactante de sexo femenino, con seguimiento en la consulta de Neurología Infantil desde los 7 meses de edad, con los diagnósticos de erosión ósea inespecífica de la bóveda craneal y epilepsia mioclónica benigna del lactante. El desarrollo psicomotor se ha producido dentro de los parámetros considerados normales, y actualmente la paciente tiene 25 meses de edad. Conclusiones. Desde el punto de vista clínico, podemos descartar las situaciones epilépticas más graves en este caso. Se trata de un caso clínico atípico, no sólo por la coexistencia de dos diagnósticos raros, sino por la clínica y las manifestaciones electroencefalográficas. Ambas situaciones son muy poco frecuentes y no existe una relación aparente entre ellas

Introduction. Benign myoclonic epilepsy in infants is a rare condition that belongs to the group of epilepsies and generalised epileptic syndromes. Doubts have recently arisen as to whether it is really benign, with some reports of cases of compromised psychomotor development when therapy is started late. The differential diagnosis can be associated with epileptic and non-epileptic diseases, and it is important to preclude it from the former due to their severity. Lombroso and Fejerman’s benign myocloni are the non-epileptic diseases that create most problems as far as the differential diagnosis is concerned. Congenital defects of the cranial vault are quite rare and are sometimes associated with other malformations. Exceptionally they appear in isolation, and familial cases have been reported. Case report. Here we describe the case of a female infant, who had been subject to a follow-up in the Children’s Neurology department from the age of 7 months and who had been diagnosed as suffering from unspecific bone erosion of the cranial vault and benign myoclonic epilepsy in infants. Psychomotor development has taken place within the range of parameters that can be considered to be normal and the patient is currently 25 months old. Conclusions. From the clinical point of view, in this case we can rule out the most severe epileptic situations. This is a clinical case that is atypical, not only because of the coexistence of two rare diagnoses, but also due to the clinical features and electroencephalographic manifestations. Both situations are very uncommon and there is no apparent relationship between them

Sospecha prenatal del síndrome de Joubert / Prenatal suspicion of Joubert syndrome

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