Epidemiology, aetiology, interventions and genomics in children with arthrogryposis multiplex congenita: protocol for a multisite registry.

INTRODUCTION: Arthrogryposis multiplex congenita (AMC) is an umbrella term including hundreds of conditions with the common clinical manifestation of multiple congenital contractures. AMC affects 1 in 3000 live births and is caused by lack of movement in utero. To understand the long-term needs of individuals diagnosed with a rare condition, it is essential to know the prevalence, aetiology and functional outcomes in a large sample. The development and implementation of a multicentre registry is critical to gather this data. This registry aims to improve health through genetic and outcomes research, and ultimately identify new therapeutic targets and diagnostics for treating children with AMC. METHODS AND ANALYSIS: Participants for the AMC registry will be recruited from seven orthopaedic hospitals in North America. Enrollment occurs in two phases; Part 1 focuses on epidemiology, aetiology and interventions. For this part, retrospective and cross-sectional data will be collected using a combination of patient-reported outcomes and clinical measures. Part 2 focuses on core subset of the study team, including a geneticist and bioinformatician, identifying causative genes and linking the phenotype to genotype via whole genome sequencing to identify genetic variants and correlating these findings with pedigree, photographs and clinical information. Descriptive analyses on the sample of 400 participants and logistic regression models to evaluate relationships between outcomes will be conducted. ETHICS AND DISSEMINATION: Ethical approval has been granted from corresponding governing bodies in North America. Dissemination of findings will occur via traditional platforms (conferences, manuscripts) for the scientific community. Other modalities will be employed to ensure that all stakeholders, including youth, families and patient support groups, may be provided with findings derived from the registry. Ensuring the findings are circulated to a maximum amount of interested parties will ensure that the registry can continue to serve as a platform for hypothesis-driven research and further advancement for AMC.

Treatment of neuromuscular scoliosis with posterior spinal fusion using the Galveston technique: a retrospective review and results of 62 patients.

Historically, the operative treatment of neuromuscular scoliosis has been associated with a high rate of complication. Recent literature has shown a decreased rate of complication (less 50%) in the management of neuromuscular scoliosis with spinal arthrodesis techniques. A retrospective chart and radiographic review of 62 spinal fusions for neuromuscular scoliosis was performed. There were 53 posterior spinal fusions and 9 anteroposterior spinal fusions. The Galveston technique was used in all patients. The average age at surgery was 13 years 7 months, with an average follow-up of 23 months (minimum 10 months). The mean preoperative and postoperative curve magnitudes were 66 degree and 31 degree, respectively. There were 20 minor complications and 5 major complications in 20 patients. There were no neurologic complications or deaths.