Atlantoaxial instability in adults with Down syndrome: a clinical and radiological survey

A survey of 129 adults with Down syndrome was undertaken to determine the prevalence of atlantoaxial instability (AAI) and to establish a base line for long term prospective study. Clinical and radiological evaluations were performed to determine optimal screening methods for this condition. The findings indicate that radiological evidence of AAI was found in 40% with anterior atlanto-odontoid distance (AAOD) of 3 mm or more and in 10% with 5 mm or more. These findings are similar to those reported in the pediatric age group. A preponderance of females with symptomatic AAI is noted. Clinical evaluation suggested the presence of spinal cord compression, which was confirmed by CT scan of the atlantoaxial region. There were no false negative clinical results. Among the false positive clinical findings other explanations were present in some cases. A comparison with the literature is offered along with guidelines on screening and management.