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.

中文翻译：

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2011年AAP儿童唐氏综合症颈椎筛查指南评估。

目的

与非DS人群相比，唐氏综合症（DS）患者中寰枢椎不稳定性（AAI）的发生率更高。2011年，美国儿科学会（AAP）仅在有临床症状提示颈椎病理的情况下才更新了DS患儿的AAI筛查指南，从X线摄影到X线摄影。尚未评估这种改变是否与AAI相关的脊髓损伤增加有关。

方法

我们提供了实施2011 AAP指南的丰富经验的首次神经外科综述。我们回顾了在科罗拉多州儿童医院的Sie唐氏综合症中心看到的DS患者的病程，这些患者经过了颈椎病评估，并确定了放射影像学检查是否可以导致早期诊断或预防神经功能缺损的发展。我们还报告了一例5岁的唐氏综合症女性，在根据2011年前的指南进行了正常的X光片检查后呈现不稳定状态。

结果

Sie中心的临床经验表明，即使将影像学限制在显示脊柱病理征象或症状的患者中，绝大多数X射线检查都是阴性的。我们的模范患者因没有明显创伤史的颈部疼痛而出现在急诊科。她被诊断并治疗了与十二指肠肌相关的寰枢椎半脱位。

结论

常规影像学检查可能不足以预示DS个体有发展AAI的风险。这种经验支持准则所主张的降低护理等级的适当性。