Trastornos de tics e impulso premonitorio: validación de la versión espñola de la «Escala para el Impulso Premonitorio al Tic» en niños y adolescentes / Tic disorders and premonitory urges: validation of the Spanish-language version of the Premonitory Urge for Tics Scale in children and adolescents

Introducción: La mayoría de personas con tics persistentes refiere notar una sensación des-agradable (impulso premonitorio) antes de sufrir un tic. En los últimos a ̃nos, el interés haciaestos fenómenos sensoriales ha aumentado debido al importante papel que tienen en la terapiade conducta. Sin embargo, los instrumentos para evaluarlos aún son escasos. Entre ellos, laEscala para el Impulso Premonitorio al Tic (Premonitory Urge for Tics Scale, PUTS) es el másutilizado. Métodos: Examinamos las propiedades psicométricas y la estructura factorial de la versiónespa ̃nola de la PUTS en una muestra de 72 ni ̃nos y adolescentes con síndrome de Tourette otrastorno de tics persistentes. Analizamos los datos para el total de la muestra y por grupos deedad (ni ̃nos hasta los 10 a ̃nos y mayores de 10 a ̃nos). Resultados: La PUTS obtuvo una buena consistencia interna y correlaciones moderadas entreítems de la escala (excepto en el ítem uno). Se encontró una buena validez divergente, unaadecuada fiabilidad test-retest y una estructura bifactorial (con una dimensión de fenómenosmentales relacionados con el trastorno obsesivo-compulsivo y otra sobre las cualidades y fre-cuencia de los impulsos premonitorios). Estos resultados se replicaron para ambos grupos deedad, excepto la validez divergente y la fiabilidad test-retest que fueron inferiores en el grupode menor edad.(AU)

Introduction: Most people with persistent tics report an unpleasant sensation (premonitoryurge) before the tic. In recent years, interest in these sensory phenomena has increased due totheir important role in behavioural therapy. However, instruments for assessing these sensationsremain scarce. Among the available instruments, the Premonitory Urge for Tics Scale (PUTS) isthe most widely used. Methods: We examined the psychometric properties and factor structure of the Spanish-language version of the PUTS in a sample of 72 children and adolescents with Tourette syndromeor persistent tic disorders. We analysed data from the total sample and by age group (childrenup to 10 years old and children/adolescents over 10). Results: The PUTS presented good internal consistency and moderate correlations betweenitems on the scale (except for item one). Divergent validity was good, test-retest reliabilitywas adequate, and a bifactorial structure was identified (one dimension related to mentalphenomena reported in obsessive-compulsive disorder, and another related to the quality andfrequency of premonitory urges). These results were replicated in both age groups, with lowerdivergent validity and test-retest reliability in the younger group.Conclusions: The Spanish-language version of the PUTS is a valid, reliable tool for assessingpremonitory urges in both children and adolescents, especially after the age of 10.(AU)

Tic disorders and premonitory urges: validation of the Spanish-language version of the Premonitory Urge for Tics Scale in children and adolescents.

INTRODUCTION: Most people with persistent tics report an unpleasant sensation (premonitory urge) before the tic. In recent years, interest in these sensory phenomena has increased due to their important role in behavioural therapy. However, instruments for assessing these sensations remain scarce. Among the available instruments, the Premonitory Urge for Tics Scale (PUTS) is the most widely used. METHODS: We examined the psychometric properties and factor structure of the Spanish-language version of the PUTS in a sample of 72 children and adolescents with Tourette syndrome or persistent tic disorders. We analysed data from the total sample and by age group (children up to 10 years old and children/adolescents over 10). RESULTS: The PUTS presented good internal consistency and moderate correlations between items on the scale (except for item 1). Divergent validity was good, test-retest reliability was adequate, and a bifactorial structure was identified (one dimension related to mental phenomena reported in obsessive-compulsive disorder, and another related to the quality and frequency of premonitory urges). These results were replicated in both age groups, with lower divergent validity and test-retest reliability in the younger group. CONCLUSIONS: The Spanish-language version of the PUTS is a valid, reliable tool for assessing premonitory urges in both children and adolescents, especially after the age of 10.

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.

Tic disorders and premonitory urges: validation of the Spanish-language version of the Premonitory Urge for Tics Scale in children and adolescents. / Trastornos de tics e impulso premonitorio: validación de la versión española de la «Escala para el Impulso Premonitorio al Tic¼ en niños y adolescentes.

INTRODUCTION: Most people with persistent tics report an unpleasant sensation (premonitory urge) before the tic. In recent years, interest in these sensory phenomena has increased due to their important role in behavioural therapy. However, instruments for assessing these sensations remain scarce. Among the available instruments, the Premonitory Urge for Tics Scale (PUTS) is the most widely used. METHODS: We examined the psychometric properties and factor structure of the Spanish-language version of the PUTS in a sample of 72 children and adolescents with Tourette syndrome or persistent tic disorders. We analysed data from the total sample and by age group (children up to 10 years old and children/adolescents over 10). RESULTS: The PUTS presented good internal consistency and moderate correlations between items on the scale (except for item one). Divergent validity was good, test-retest reliability was adequate, and a bifactorial structure was identified (one dimension related to mental phenomena reported in obsessive-compulsive disorder, and another related to the quality and frequency of premonitory urges). These results were replicated in both age groups, with lower divergent validity and test-retest reliability in the younger group. CONCLUSIONS: The Spanish-language version of the PUTS is a valid, reliable tool for assessing premonitory urges in both children and adolescents, especially after the age of 10.

Consenso para el diagnóstico, tratamiento y seguimiento del paciente con distrofia muscular de Duchenne / Consensus on the diagnosis, treatment and follow-up of patients with Duchenne muscular dystrophy

Introducción: La distrofia muscular de Duchenne (DMD) es la miopatía más frecuente en niños, con una prevalencia mundial de aproximadamente 0,5 por cada 10.000 varones. Se caracteriza por una debilidad muscular progresiva al inicio de la infancia con aparición posterior de complicaciones musculoesqueléticas, respiratorias y cardíacas que ocasionan discapacidad, dependencia y muerte prematura. Actualmente su tratamiento se fundamenta en medidas sintomáticas multidisciplinares que han modificado favorablemente el curso de la enfermedad, por lo que resulta crucial establecer unas directrices claras y actualizadas que permitan tanto una detección temprana de la enfermedad como un adecuado tratamiento y seguimiento de sus posibles complicaciones. Desarrollo: Con el fin de obtener una visión general de los aspectos abordados por las guías actuales y detectar aquellos en los que todavía no existe un consenso y su abordaje sea relevante, se realizó una revisión de la literatura en la base de datos biomédicas de los últimos 10 años. El grado de evidencia y el nivel de recomendación de la información obtenida se clasificaron y ordenaron de acuerdo con los criterios de la American Academy of Neurology (AAN). Conclusiones: El abordaje de la DMD debe ser multidisciplinar y ajustado al perfil del paciente y su grado de evolución clínica, comprendiendo, además del tratamiento basado en corticoides, medidas a nivel gastrointestinal, respiratorio, cardiaco, fisioterapéutico y ortopédico dirigidas a mejorar la calidad de vida de los pacientes. Los estudios genéticos desempeñan un papel clave en el manejo de la enfermedad, tanto en la detección de casos y posibles portadoras como en la caracterización de la mutación implicada y el desarrollo de nuevas terapias

Introduction: Duchenne muscular dystrophy (DMD) is the most common myopathy in children, with a worldwide prevalence of approximately 0.5 cases per 10,000 male births. It is characterised by a progressive muscular weakness manifesting in early childhood, with the subsequent appearance of musculoskeletal, respiratory, and cardiac complications, causing disability, dependence, and premature death. Currently, DMD is mainly managed with multidisciplinary symptomatic treatment, with favourable results in terms of the progression of the disease. It is therefore crucial to establish clear, up-to-date guidelines enabling early detection, appropriate treatment, and monitoring of possible complications. Development: We performed a literature search of the main biomedical databases for articles published in the last 10 years in order to obtain an overview of the issues addressed by current guidelines and to identify relevant issues for which no consensus has yet been established. The degree of evidence and level of recommendation of the information obtained were classified and ordered according to the criteria of the American Academy of Neurology. Conclusions: DMD management should be multidisciplinary and adapted to the patient's profile and the stage of clinical progression. In addition to corticotherapy, treatment targeting gastrointestinal, respiratory, cardiac, and orthopaedic problems, as well as physiotherapy, should be provided with a view to improving patients' quality of life. Genetic studies play a key role in the management of the disease, both in detecting cases and potential carriers and in characterising the mutation involved and developing new therapies

Consensus on the diagnosis, treatment and follow-up of patients with Duchenne muscular dystrophy. / Consenso para el diagnóstico, tratamiento y seguimiento del paciente con distrofia muscular de Duchenne.

INTRODUCTION: Duchenne muscular dystrophy (DMD) is the most common myopathy in children, with a worldwide prevalence of approximately 0.5 cases per 10,000 male births. It is characterised by a progressive muscular weakness manifesting in early childhood, with the subsequent appearance of musculoskeletal, respiratory, and cardiac complications, causing disability, dependence, and premature death. Currently, DMD is mainly managed with multidisciplinary symptomatic treatment, with favourable results in terms of the progression of the disease. It is therefore crucial to establish clear, up-to-date guidelines enabling early detection, appropriate treatment, and monitoring of possible complications. DEVELOPMENT: We performed a literature search of the main biomedical databases for articles published in the last 10years in order to obtain an overview of the issues addressed by current guidelines and to identify relevant issues for which no consensus has yet been established. The degree of evidence and level of recommendation of the information obtained were classified and ordered according to the criteria of the American Academy of Neurology. CONCLUSIONS: DMD management should be multidisciplinary and adapted to the patient's profile and the stage of clinical progression. In addition to corticotherapy, treatment targeting gastrointestinal, respiratory, cardiac, and orthopaedic problems, as well as physiotherapy, should be provided with a view to improving patients' quality of life. Genetic studies play a key role in the management of the disease, both in detecting cases and potential carriers and in characterising the mutation involved and developing new therapies.

Inusual complicación en la edad pediátrica: encefalopatía de Wernicke asociada a nutrición parenteral deficiente en tiamina / Unusual complication in a paediatric patient: Wernicke encephalopathy associated with thiamine-deficient parenteral nutrition

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[West syndrome: aetiology, therapeutic options, clinical course and prognostic factors]. / Sindrome de West: etiologia, opciones terapeuticas, evolucion clinica y factores pronosticos.

INTRODUCTION: West syndrome is an age-specific form of epilepsy that associates infantile spasms, hypsarrhythmia and a delay in or the complete stoppage of psychomotor development, although this last case is not essential. AIMS: To define the profile of West syndrome in our environment by taking into account its aetiology, semiology, response to different therapeutic options and the appearance of side effects, as well as to establish prognostic factors that determine its course. PATIENTS AND METHODS: A data collection document stating the eligibility criteria was drafted. Data were collected by reviewing the medical records of patients diagnosed with West syndrome during the period between January 2003 and January 2009. Later, a statistical study was conducted with descriptive analysis and the level of statistical significance of the possible prognostic factors was established. RESULTS: The study included 70 patients. There was a predominance of symptomatic aetiology, with hypoxia-ischaemia as the main cause. Regardless of the aetiology, 58% of patients responded to treatment with vigabatrine. Over 80% of patients being treated with adrenocorticotropic hormone were finally seizure-free and without hypsarrhythmia. Almost half the patients progressed to other epilepsies. CONCLUSIONS: The statistically significant poor prognostic factors were: existence of a prenatal history, neonatal history, symptomatic aetiology, age of onset below 4 months, epileptic seizures before the onset of the spasms and outside the neonatal period, and delayed psychomotor development prior to the onset of the spasms.

Alteraciones del gen ARX / ARX gene mutations

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Encefalopatía hiperamoniémica inducida por ácido valproico en período neonatal / Hyperammonaemic encephalopathy due to valproic acid in the neonatal period

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