Best Practices in the Evaluation and Treatment of Foramen Magnum Stenosis in Achondroplasia during Infancy
In order to provide a more uniform and structured approach to the management of foramen magnum stenosis in infants with achondroplasia, the authors of this paper developed a list of 22 recommendations for this purpose.
It involved a panel of 11 multidisciplinary international experts on skeletal dysplasias who rated a series of statements, discussed and edited them and finally rated the resulting statements again, resulting in potential indications and counterindications for the management of foramen magnum stenosis. This final list provided a list of recommendations for the evaluation and treatment of foramen magnum stenosis accepted by over 80% of the involved experts and a list of statements that didn't reach the 80% threshold and therefore, are areas that need further study.
A uniform and structured evaluation of infants showing symptoms of foramen magnum stenosis will improve mortality and morbidity outcomes for these children.
White, K. K., Bompadre, V., Goldberg, M. J., Bober, M. B., Campbell, J. W., Cho, T. J., . . . Savarirayan, R. (2016). Best practices in the evaluation and treatment of foramen magnum stenosis in achondroplasia during infancy. Am J Med Genet A, 170A(1), 42-51. doi:10.1002/ajmg.a.37394
Abstract
"Achondroplasia is the most common inherited disorder of bone growth (skeletal dysplasia). Despite this fact, consistent and evidence-based management approaches to recognized, life-threatening complications, such as foramen magnum stenosis, are lacking. This study aims to outline best practice, based on evidence and expert consensus, regarding the diagnosis, assessment, and management of foramen magnum stenosis in achondroplasia during infancy. A panel of 11 multidisciplinary international experts on skeletal dysplasia was invited to participate in a Delphi process. They were: 1) presented with a list of 26 indications and a thorough literature review, 2) given the opportunity to anonymously rate the indications and discuss in face to face discussion; 3) edit the list and rate it in a second round. Those indications with more than 80% agreement were considered as consensual. After two rounds of rating and a face-to-face meeting, consensus was reached to support 22 recommendations for the evaluation and treatment of foramen magnum stenosis in infants with achondroplasia. These recommendations include indications for surgical decompression, ventriculomegaly, and hydrocephalus, sleep-disordered breathing, physical exams and the use of polysomnography and imaging in this condition. We present a consensus-based best practice guidelines consisting of 22 recommendations. It is hoped that these guidelines will lead to more uniform and structured evaluation, standardizing care. "