ABSTRACT
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.
Subject(s)
Neurodegenerative Diseases/diagnosis , Spinal Muscular Atrophies of Childhood/diagnosis , Adolescent , Adult , Biopsy , Child , Chile/epidemiology , Cohort Studies , Electromyography , Female , Genetic Predisposition to Disease , Genotype , Humans , Infant , Infant, Newborn , Male , Neurodegenerative Diseases/mortality , Neurodegenerative Diseases/therapy , Phenotype , Prevalence , Residence Characteristics , Respiration, Artificial , Scoliosis/surgery , Socioeconomic Factors , Spinal Muscular Atrophies of Childhood/mortality , Spinal Muscular Atrophies of Childhood/therapy , Young AdultABSTRACT
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.
Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child , Adolescent , Adult , Young Adult , Spinal Muscular Atrophies of Childhood/diagnosis , Neurodegenerative Diseases/diagnosis , Phenotype , Respiration, Artificial , Scoliosis/surgery , Socioeconomic Factors , Biopsy , Spinal Muscular Atrophies of Childhood/mortality , Spinal Muscular Atrophies of Childhood/therapy , Chile/epidemiology , Residence Characteristics , Prevalence , Cohort Studies , Neurodegenerative Diseases/mortality , Neurodegenerative Diseases/therapy , Genetic Predisposition to Disease , Electromyography , GenotypeABSTRACT
STUDY DESIGN: Survey study. OBJECTIVE: To determine the impact of osteoporosis (OP) in instrumented spine surgery among Latin American spine surgeons. METHODS: An electronic survey on aspects of instrumented spine surgery and OP was sent electronically to all members of AOSpine Latin America (AOSLA): 16 multiple-choice questions included incidence and type of complications experienced, strategies to avoid intraoperative complications, on prevention of complications and OP assessment and treatment prior to surgery. RESULTS: A total of 349 spine surgeons from a universe of 377 surgeons (230 orthopedic surgeons and 147 neurosurgeons), associated members of AOSLA answered the survey. About 80% recalled complications directly related to OP and 71% had revised instrumentation because of OP-related complications. Techniques for prevention of intraoperative complications varied; 65% extended instrumentation to additional segments, 63% performed vertebral body cement injection alone or associated with instrumentation. Preoperative screening was used by 19% but increased to 75% if patients had risk factors. A limit value of bone mineral density for delaying surgery was not established for 66.4% of respondents. Consultation for OP management was requested by 81%, mostly to endocrinology (56.3%). Interestingly, 19% personally managed their patient's OP. CONCLUSION: This study provides a global perspective on how Latin American spine surgeons manage patients with OP undergoing instrumented spine surgery. Most have faced complications associated with OP and have had to resolve them surgically. Spine surgeons frequently participate partially in managing patients with OP. Most refer patients with OP for treatment to the endocrinology.
