Evaluation of 2011 AAP cervical spine screening guidelines for children with Down Syndrome
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CASE-BASED REVIEW
Evaluation of 2011 AAP cervical spine screening guidelines for children with Down Syndrome Astrid C. Hengartner 1 Todd C. Hankinson 1
&
Ros Whelan 1 & Roberta Maj 2 & Kristine Wolter-Warmerdam 3 & Francis Hickey 3 &
Received: 2 July 2020 / Accepted: 30 July 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract Purpose 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. Methods 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. Results 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. Conclusion 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. Keywords Atlantoaxial instability . Down syndrome . Screening guidelines . Os odontoideum
Introduction Atlantoaxial instability (AAI) refers to the excessive motion of C1 relative to C2, often defined in children by an atlantodental interval (ADI) of greater than 4.5 mm. AAI occurs in 9–27% of the Down syndrome (DS) population [1–3]. While the etiology of AAI in DS is not fully understood, osseous abnormalities such as os odontoideum [4, 5] and intrinsic * Todd C. Hankinson [email protected] 1
Department of Pediatric Neurosurgery, Children’s Hospital Colorado, University of Colorado School of Medicine, 13123 E 16th Ave, PO Box 330, Aurora, CO 80045, USA
2
Università Vita-Salute San Raffaele, Milan, Italy
3
Sie Center for Down Syndrome, Children’s Hospital Colorado, University of Colorado School of Medicine, Aurora, CO, USA
ligamentous factors resulting in ligamentous laxity [1, 2] are likely contributory mechanisms. Often, AAI in children with DS is asymptomatic
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