Sobrecarga del cuidador de pacientes con atrofia muscular espinal / Caregiver burden in spinal muscular atrophy

INTRODUCCIÓN La sobrecarga del cuidador ha sido ampliamente descrita en gerontología, pocos estudios la abordan en niños con enfermedades neuromusculares. El cuidado de pacientes con atrofia muscular espinal (AME), requiere atención continua de un tercero, pudiendo afectar la salud del cuidador y la calidad de atención y bienestar del paciente. El objetivo del estudio fue determinar el nivel de sobrecarga de los cuidadores de pacientes AME, identificando factores protectores y de riesgo asociados MÉTODOS Estudio observacional analítico transversal en padres de pacientes con AME, de un hospital privado de Santiago de Chile. Se analizaron datos demográficos clínicos y encuesta Zarit autoreportada por los padres de los pacientes con AME, realizada entre septiembre de 2017 y febrero de 2018. Se usó estadística descriptiva y regresión logística uni y multivariada para identificar factores asociados a sobrecarga RESULTADOS De los 50 padres encuestados, 14 (28%) eran de pacientes non-sitters, con sobrecarga intensa, mediana de puntaje 59 (37-76), 29 (58%) de pacientes sitters sobrecarga ligera, mediana 48 (32-79) y 7(14%) de pacientes walkers, ausencia de sobrecarga mediana 38 (23-54). Se identificaron como factores protectores de sobrecarga los años de enfermedad OR 0,9 (0,8-0,95) P=0,037 y la mayor edad de los pacientes OR 0,9(08,0,98) p=0,018. Factores de riesgo el uso de silla de ruedas OR 7,2(1,2-4,3) p=0,029 y la vía de alimentación artificial OR 9,2(1-78,8) p=0,040 CONCLUSIÓN Los padres de pacientes con AME tienen un significativo nivel de sobrecarga y existen factores que la aumentan y disminuyen. El equipo multidisciplinario debe integrar la medición periódica del nivel de sobrecarga, para intervenir oportunamente y procurar el cuidado integral de la familia.

Caregiver burden has been widely described in gerontology, few studies address it in children with neuromuscular diseases. The care of patients with spinal muscular atrophy (SMA) requires permanent care from a third person, which may affect the caregiver health, quality of care and well-being of the patient. The aim of the study was to determine the burden of SMA patient's caregivers, identifying associated protective and risk factors METHODS Descriptive cross-sectional analytical study in SMA patient's parents, from a private hospital in Santiago de Chile., demographic Clinical and self-reported Zarit survey data, parents self reported, conducted between September 2017 and February 2018, were analyzed. Descriptive statistics and uni and multivariate logistic regression were used to identify factors associated with overloading RESULTS Parents of non-sitter patients showed a median of 59 (37-76), corresponding to intense burden and those of sitters, a light burden, with a median score of 48 (32-79) Walkers patient's parents, presented a median score of 38 (23-54) that corresponds to an absence of burden. The years of illness and the higher age of the patients were identified as protective factors of overload. As risk factors of burden, the use of a wheelchair and artificial airway. Of the 50 parents surveyed, 14 (28%) were non-sitter patients, with intense overload, median 59(37-76), 29(58%) sitters patients, light overload, median 48 (32-79) and 7(14%) walker patients, absence of overload, median 38 (23-54). Protective factors of overload were years of disease OR 0,9(0,8-0,95) p=0.037 and the patients major age OR 0.9(0.8-0.98) p=0.018. Risk factors were the use of wheelchair OR 7,2(1,2-4,3) p=0.029 and artificial feeding support OR 9,2(1-78.8) p=0.040 CONCLUSION SMA patient's parents have a significant level of overload and there are factors that increase and decrease it. The multidisciplinary team must integrate the periodic measurement of the burden level, to make on time interventions and to ensure the integral care in the family.

Spontaneous symptomatic improvement in a pediatric patient with anti-3-hydroxy-3-methylglutraryl-coenzyme A reductase myopathy.

Immune-mediated necrotizing myopathy with antibodies against 3-hydroxy-3-methylglutaryl-coenzyme A reductase is a subgroup of idiopathic inflammatory myopathies mainly described in adults and requiring long term immunomodulatory therapy for remission. Pediatric patients have been reported as small series or sporadic cases. We report an eight-year-old girl with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase myopathy, presenting with subacute proximal limb weakness, high creatine kinase and a muscle biopsy displaying necrotizing pattern, initially diagnosed as limb-girdle muscular dystrophy, but subsequently negative genetic testing. A noteworthy spontaneous improvement in her weakness suggested the possibility of an acquired autoimmune myopathy, confirmed by positive testing of anti-HMGCR antibodies titers. After four years of follow-up, she maintains normal strength with high levels of anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibody. This patient shows that spontaneous fluctuations and spontaneous long-lasting symptomatic remission can occur in patients with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase myopathy. Some patients could present a wane and wax clinical course, an important aspect when assessing response to therapy.

Observations from a nationwide vigilance program in medical care for spinal muscular atrophy patients in Chile.

METHODS: Spinal muscular atrophy (SMA) has gained much attention in the last few years because of the approval of the first intrathecal treatment for this neurodegenerative disease. Latin America needs to develop the demographics of SMA, timely access to diagnosis, and appropriate following of the standards of care recommendations for patients. These are essential steps to guide health policies. This was a descriptive study of a cohort of SMA patients from all over Chile. We analyzed the clinical, motor functional, and social data, as well as the care status of nutritional, respiratory and skeletal conditions. We also measured the SMN2 copy number in this population. RESULTS: We recruited 92 patients: 50 male; 23 SMA type-1, 36 SMA type-2 and 33 SMA type-3. The median age at genetic diagnosis was 5, 24 and 132 months. We evaluated the SMN2 copy number in 57 patients. The SMA type-1 patients were tracheostomized and fed by gastrostomy in a 69.6 % of cases, 65% of SMA type-2 patients received nocturnal noninvasive ventilation, and 37% of the whole cohort underwent scoliosis surgery. CONCLUSION: Ventilatory care for SMA type-1 is still based mainly on tracheostomy. This Chilean cohort of SMA patients had timely access to genetic diagnosis, ventilatory assistance, nutritional support, and scoliosis surgery. In this series, SMA type-1 is underrepresented, probably due to restrictions in access to early diagnosis and the high and early mortality rate.

Severe brain involvement in 5q spinal muscular atrophy type 0.

Spinal muscular atrophy (SMA) type 0 is the most severe form of SMA, associated with the SMN1 gene and manifesting at birth. Most patients die in the first weeks of life. In this work, we present 3 patients with SMA type 0 who survived >1 year and presented diffuse and progressive brain abnormalities on magnetic resonance imaging, which are not usually seen in patients with SMA. Thus, severe brain involvement may likely be the full end manifestation of an already extreme SMA phenotype caused by substantial reduction of the SMN protein in the brain. ANN NEUROL 2019;86:458-462.

Observations from a nationwide vigilance program in medical care for spinal muscular atrophy patients in Chile / Atrofia muscular espinal en Chile, resultados de un programa de atención médica nacional

ABSTRACT Spinal muscular atrophy (SMA) has gained much attention in the last few years because of the approval of the first intrathecal treatment for this neurodegenerative disease. Latin America needs to develop the demographics of SMA, timely access to diagnosis, and appropriate following of the standards of care recommendations for patients. These are essential steps to guide health policies. Methods This was a descriptive study of a cohort of SMA patients from all over Chile. We analyzed the clinical, motor functional, and social data, as well as the care status of nutritional, respiratory and skeletal conditions. We also measured the SMN2 copy number in this population. Results We recruited 92 patients: 50 male; 23 SMA type-1, 36 SMA type-2 and 33 SMA type-3. The median age at genetic diagnosis was 5, 24 and 132 months. We evaluated the SMN2 copy number in 57 patients. The SMA type-1 patients were tracheostomized and fed by gastrostomy in a 69.6 % of cases, 65% of SMA type-2 patients received nocturnal noninvasive ventilation, and 37% of the whole cohort underwent scoliosis surgery. Conclusion Ventilatory care for SMA type-1 is still based mainly on tracheostomy. This Chilean cohort of SMA patients had timely access to genetic diagnosis, ventilatory assistance, nutritional support, and scoliosis surgery. In this series, SMA type-1 is underrepresented, probably due to restrictions in access to early diagnosis and the high and early mortality rate.

La Atrofia Muscular Espinal (AME) ha concitado mucha atención en los últimos 2 años debido a la aprobación del primer tratamiento intratecal para esta enfermedad neurodegenerativa. América Latina necesita desarrollar la demografía de AME, un acceso oportuno al diagnóstico y un seguimiento apropiado de los pacientes que incorporen los estándares de atención recomendados por expertos. Estos son pasos esenciales para orientar las futuras políticas de salud en esta enfermedad. Métodos Este es un estudio descriptivo de una cohorte de pacientes con AME de todo el país. Se analizaron los datos clínicos, motores, funcionales, sociales y el estado nutricional, respiratorio y esquelético de los pacientes. También medimos el número de copias del gen SMN2 en esta población. Resultados se reclutaron 92 pacientes, 50 varones; 23 AME tipo 1, 36 AME tipo 2 y 33 AME tipo 3. La edad media al diagnóstico genético fue de 5, 24 y 132 meses respectivamente. Evaluamos el número de copias de SMN2 en 57 pacientes. Un 69,6% de los pacientes con AME tipo 1 estaban traqueostomízados y gastrostomizados , un 65% de los pacientes con AME tipo 2 usaban ventilación nocturna no invasiva y el 37% de toda la cohorte presentaba una cirugía de escoliosis. Conclusión Esta cohorte chilena de pacientes con AME tuvo acceso oportuno al diagnóstico genético, asistencia ventilatoria, apoyo nutricional y cirugía de escoliosis, sin embargo, la atención ventilatoria para AME tipo 1 continúa aun basándose principalmente en la traqueostomía. En esta serie, AME tipo 1 está subrepresentada, probablemente debido a las restricciones en el acceso al diagnóstico temprano y la tasa de mortalidad alta y temprana.

[Collagen VI related myopathies. When to suspect, how to identify. The contribution of muscle magnetic resonance]. / Miopatías relacionadas a colágeno VI. Cuando sospecharlas, cómo identificarlas. Aporte de la resonancia magnética muscular.

Myopathies secondary to collagen VI mutations (COLVI-M) are the most frequent in the northern hemisphere, affecting the adult and pediatric population. There are no data on its prevalence in Latin America. They are characterized by a great clinical variability, from severe phenotypes, such as Ullrich congenital muscular dystrophy (UCMD), to intermediate and mild ones such as Bethlem myopathy (BM). Its onset is also variable and extends from the neonatal period to adulthood. Given the presence of joint hypermobility, the differential diagnosis should be made with various connective tissue diseases. The classical diagnostic algorithm in many patients has been insufficient to guide the genetic study in an adequate way, and from this the muscular magnetic resonance imaging has emerged as a very useful tool for a better diagnostic approach of this and other muscular pathologies. This ob jective of this review is to study the forms of presentation, clinical characteristics, specific diagnostic study, differential diagnosis and management of one of the most frequent hereditary muscular patho logies, with emphasis on the contribution of muscle magnetic resonance imaging.

Miopatías relacionadas a colágeno VI: cuando sospecharlas, cómo identificarlas: aporte de la resonancia magnética muscular / Collagen VI related myopathies: when to suspect, how to identify: the contribution of muscle magnetic resonance

Resumen: Las miopatías secundarias a mutaciones en el colágeno VI (M-COLVI) son las más frecuentes en el hemisferio norte, afectando población adulta y pediátrica. No existen datos de su prevalencia en Latinoamérica. Se caracterizan por presentar una gran variabilidad clínica, desde fenotipos severos, como la distrofia muscular congénita de Ullrich (DMCU), a intermedios y leves como la Miopatía de Bethlem (MB). Su inicio también es variable y se extiende desde el período de recién nacido hasta la vida adulta. Dada la presencia de hiperlaxitud articular, el diagnóstico diferencial se debe realizar con diversas enfermedades del tejido conectivo. El algoritmo diagnóstico clásico en muchos pacientes ha sido insuficiente para orientar el estudio genético de forma adecuada, y a partir de esto la resonancia magnética muscular ha emergido como una herramienta de gran utilidad para una mejor aproxima ción diagnóstica de ésta y otras patologías musculares. Esta revisión tiene como objetivo examinar las formas de presentación, características clínicas, estudio diagnóstico específico, diagnóstico dife rencial y manejo de una de las patologías musculares herediatarias más frecuentes, con énfasis en el aporte de la resonancia magnética muscular.

Abstract: Myopathies secondary to collagen VI mutations (COLVI-M) are the most frequent in the northern hemisphere, affecting the adult and pediatric population. There are no data on its prevalence in Latin America. They are characterized by a great clinical variability, from severe phenotypes, such as Ullrich congenital muscular dystrophy (UCMD), to intermediate and mild ones such as Bethlem myopathy (BM). Its onset is also variable and extends from the neonatal period to adulthood. Given the presence of joint hypermobility, the differential diagnosis should be made with various connective tissue diseases. The classical diagnostic algorithm in many patients has been insufficient to guide the genetic study in an adequate way, and from this the muscular magnetic resonance imaging has emerged as a very useful tool for a better diagnostic approach of this and other muscular pathologies. This ob jective of this review is to study the forms of presentation, clinical characteristics, specific diagnostic study, differential diagnosis and management of one of the most frequent hereditary muscular patho logies, with emphasis on the contribution of muscle magnetic resonance imaging.

Descripción de la población de pacientes con enfermedad de Parkinson en un centro médico neurológico en la ciudad de Cali, Colombia / Description of Parkinson disease population in a neurological medical center in Cali, Colombia

IntroduccIon. La enfermedad de Parkinson (EP), es la segunda enfermedad neurodegenerativa más prevalente después de la Enfermedad de Alzheimer, tiene un comportamiento epidemiológico similar alrededor del mundo, sin embargo, en Colombia no hay datos recientes que permitan confirmar esta similitud. objetIvo. Describir las características sociodemográficas y clínicas de un grupo de pacientes con Enfermedad de Parkinson en un centro neurológico de referencia en la ciudad de Cali, Colombia. MaterIales y Métodos. Estudio retrospectivo descriptivo demográfico y de características clínicas de la enfermedad, que permitirán más adelante medir el impacto de la enfermedad en nuestro medio. Datos analizados en el programa SPSS mediante frecuencias, promedios y proporciones. resultados. Muestra: 83 pacientes. 72.3% masculinos, edad promedio 71 años y tiempo promedio de enfermedad 5 años. El inicio de los síntomas en 59.6% fue en hemicuerpo derecho y el síntoma predominante inicial fue el temblor en 51.2%. Los síntomas no motores hallados fueron: ansiedad 34.2%, trastornos depresivos 17.1% y trastornos del sueño 14.2%. El 3.6% tenía antecedentes familiares. Las discinesias por levodopa se encontraron en 53.7%. conclusIón: Los presentes hallazgos demuestran que estos pacientes presentan características similares a las descritas en otros países en cuanto a síntomas motores, pero en los no motores, se encontraron por debajo de las estadísticas, probablemente debido a que rutinariamente no se tienen en cuenta. Se requieren estudios adicionales.