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.

Fractura-avulsión pélvica en la actividad deportiva en edad pediátrica / Apophyseal avulsion fractures in sports activity in pediatric age

Las fracturas por avulsión apofisaria son fracturas poco frecuentes que se producen generalmente tras una contracción muscular violenta y rápida. El diagnóstico es fundamentalmente clínico, por la edad del paciente y el mecanismo de la lesión. La radiografía simple confirma el diagnóstico, aunque puede ser útil la ecografía, la tomografía axial computarizada y la resonancia magnética. La mayoría de los pacientes responden favorablemente al tratamiento conservador. Presentamos 2 casos clínicos de avulsión apofisaria a nivel de la pelvis en futbolistas en edad pediátrica con distinta localización, presentación clínica y evolución. En el primer caso se presenta una avulsión del trocánter menor, lesión muy poco frecuente, y en el segundo una avulsión de la espina ilíaca antero-inferior que pasó desapercibida y fue diagnosticada un mes después de la lesión. El conocimiento de la anatomía, el mecanismo de la lesión y el tratamiento de estas fracturas permite el diagnóstico precoz y el tratamiento adecuado (AU)

Apophyseal avulsion fractures are uncommon injuries that usually occur after a sudden and forceful muscle contraction. The diagnosis is fundamentally clinical, suggested by the patient’s age and injury mechanism. A plain radiograph usually confirms the diagnosis, but ultrasound, computed tomography and magnetic resonance imaging may be useful. Conservative treatment is usually successful in most cases. We report two cases of pelvic apophyseal avulsion fractures with different location, clinical presentation and outcome in young soccer players. In the first case, we present an avulsion of the lesser trochanter, a very uncommon injury, and in the second case an avulsion of the anterior-inferior iliac spine that went unnoticed and was diagnosed a month after the injury. With careful understanding of the anatomy, mechanism of injury and treatment, these fractures can be successfully diagnosed and treated (AU)

Deformidad raquídea en los pacientes afectos de la enfermedad de Charcot-Marie-Tooth / Spinal deformities in patients with Charcot-Marie-Tooth disease

Introducción: La prevalencia de escoliosis en la enfermedad de Charcot-Marie-Tooth (CMT) se estima entre el 10 y el 38%. El objetivo del estudio es analizar la prevalencia de deformidades raquídeas asociadas al CMT en nuestra población, y los datos epidemiológicos y clínicos de los pacientes. Material y métodos: Se realizó un estudio descriptivo retrospectivo de 30 pacientes afectos de CMT, valorados entre enero de 2001 y diciembre de 2010. Se analizó el sexo, la edad de diagnóstico y el subtipo de CMT, la edad de aparición de la escoliosis, las características de la curva, la evolución y el tratamiento. Resultados: El 46,7% de los niños presentó escoliosis. La edad media de aparición de la escoliosis fue 10,21 a˜nos y la magnitud media de la curva en el momento del diagnóstico fue de 13,85◦. Un 42,85% eran toracolumbares, y el 50% asociaban cifosis. Se valoró la evolución en los pacientes con un seguimiento superior a 3 años y Risser ≥ 3, de los que el 50% presentó progresión. Se indicó tratamiento ortésico a 5 pacientes y ninguno precisó tratamiento quirúrgico. Se observó mayor incidencia de escoliosis en los varones, un 78,5%, y en los pacientes que habían sido intervenidos de deformidad de los pies, un 62,5%, sin que exista relación estadísticamente significativa en ninguno de los 2 casos. Conclusiones: La prevalencia de escoliosis en CMT es muy superior a la de la población general. Son curvas de amplio radio y con frecuencia asocian cifosis. No encontramos rápida progresión y los pacientes responden al tratamiento ortésico. Deben identificarse precozmente mediante exploración sistemática del raquis (AU)

Introduction: Prevalence of scoliosis in Charcot-Marie-Tooth (CMT) disease has been reported to range from 10 and 38%. Our study has aimed to analyze prevalence of spinal deformities associated with CMT in our population and the epidemiological and clinical data of the patients. Materials and methods: A retrospective epidemiological study of 30 patients with CMT was performed. Patients were evaluated between January 2001 and December 2010. Sex, age at diagnosis and subtype of CMT, age at onset of scoliosis, curve characteristics, evolution and treatment were analyzed. Results: A total of 46.7% of the children of the study had scoliosis. Average age at diagnosis of scoliosis was 10.21 years and average curve magnitude at the time of diagnosis was 13.85◦. Of the curves, 42.85% were thoracolumbar and 50% were associated with increased thoracic kyphosis. Curve progression was analyzed only when the patients had been followed-up for more than three years and the final Risser sign was ≥3. Progression was documented in 50% of the patients. Orthosis was prescribed in five patients and none required surgical treatment. A higher incidence of scoliosis was observed in males, 78.5%, and in patients who had undergone foot surgery, 62.5%. No statistically significant relationship was found in either case. Conclusions: Prevalence of scoliosis in CMT is higher than in the general population. Patient have long radius curves, often with associated kyphosis. We did not find rapid progression and there was good response to the brace treatment. Spinal deformity should be detected early by systematic examination of the spine (AU)

Tratamiento rehabilitador del paciente con síndrome de Edwards de larga supervivencia / Rehabilitation in long-term survivors with Edwards syndrome

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Estudio retrospectivo de 49 pacientes con parálisis braquial obstétrica: factores de riesgo, incidencia y evolución / Retrospective study of 49 patients with obstetric brachial palsy: risk factors, incidence and evolution

Introducción. La parálisis braquial obstétrica (PBO) es la lesión del plexo braquial en el período neonatal asociada al parto. Objetivos. Conocer la incidencia de PBO en los niños nacidos en el Hospital Materno Infantil de Canarias en los últimos 5 años, estudiar los factores de riesgo de embarazo y parto asociados, revisar la literatura comparando los resultados obtenidos y seguir la evolución de los pacientes. Método. Estudio observacional retrospectivo de todos los pacientes afectos de PBO nacidos entre enero de 2000 y diciembre de 2004. Se recogieron datos de la madre, del recién nacido, tipo de parto y de la lesión, que fueron comparados con el resto de los partos. Análisis estadístico: programa informático SPSS versión 13.0. Se halló la incidencia de PBO por mil nacidos con intervalos de confianza del 95 %. Se analizaron por separado los niños afectos de PBO transitoria (curación antes del año) de los niños afectos de PBO permanente (persistencia al año). Resultados. Se diagnosticaron 49 pacientes afectos de PBO. La incidencia fue de 1,23 ‰. Se encontraron resultados significativos entre la incidencia de PBO y el alto peso al nacimiento, el uso de fórceps, la existencia de test de Apgar y pH inferior al habitual. A los 12 meses un 86 % de los pacientes presentaban movilidad simétrica. Conclusiones. La PBO está relacionada con los factores de riesgo habituales. Los resultados son similares a los encontrados en la literatura. El control de los niños con PBO es primordial para minimizar la aparición de secuelas

Introduction. Obstetric brachial palsy (OBP) is a lesion of the brachial plexus during the neonatal period associated to delivery. Objectives. Know the incidence of OBP in children born in the Materno Infantil University Hospital of the Canary Islands in the last 5 years, study the risk factors of pregnancy and delivery associated to OBP, make a review of the literature in order to compare the results obtained and follow the patient’s evolution. Method. Observational retrospective study of all patients affected by OBP born at our hospital between January 2000 and December 2004. Data of the mother, newborn, type of delivery and lesion were recorded and compared with the rest of deliveries. Statistical analysis: we used the SPSS 13.0 program. Results are expressed as incidence of OBP per thousand, with confidence intervals at 95 %. In addition, children affected by a transitory OBP (those who had been cured before one year) were analyzed separately from those affected by a permanent OBP (with clinical affectation persisting one year later). Results. A total of 49 patients affected by OBP were diagnosed. Incidence was 1.23 ‰. Statistically significant results were found between OBP incidence and high birth weight, use of forceps and the existence of Apgar’s test and pH with lower than usual scores. At 12 months 86 % of the patients presented symmetric mobility. No cases of distal palsies were found. Conclusions. Brachial plexus lesions are related to the common risk factors. The results are similar to those found in the literature. Control of children with OBP is essential to minimize the appearance of sequelae