Evaluation of 2011 AAP cervical spine screening guidelines for children with Down Syndrome

Atlantoaxial instability (AAI) has a higher incidence rate among individuals with Down syndrome (DS) than the non-DS population. In 2011, the American Academy of Pediatrics (AAP) updated its AAI screening guidelines for children with DS from radiographic screening to radiographs only if there are clinical symptoms suggestive of cervical spine pathology. An assessment of whether this alteration has been associated with an increase in AAI-associated spinal cord injury has not been undertaken.

We provide the first neurosurgical review of a large experience implementing the 2011 AAP guidelines. We reviewed the courses of patients with DS seen at the Sie Center for Down Syndrome at Children's Hospital Colorado who were evaluated for cervical spine disease and determined whether screening radiographic imaging could have led to earlier diagnosis or prevented development of neurological deficits. We also report an illustrative case of a 5-year-old female with Down syndrome who presented with instability after normal screening radiographs per the pre-2011 guidelines.

The clinical experience of the Sie Center demonstrates that even when limiting imaging to patients who show signs or symptoms of spine pathology, the vast majority of x-rays are negative. Our exemplary patient presented to the emergency department for neck pain without a history of significant trauma. She was diagnosed and treated for atlantoaxial subluxation associated with os odontoideum.

Routine radiographic screening may not be sufficiently predictive of DS individuals at risk to develop AAI. This experience supports the appositeness of the de-escalation of care asserted by the guidelines.