Symptomatic atlantoaxial instability in an adolescent with Trisomy 21 (Down's syndrome)

E. Rosellen Dedlow, Siraj Siddiqi, Donald J. Fillipps, Maria N. Kelly, John A. Nackashi, Sanjeev Y. Tuli

Research output: Contribution to journalArticlepeer-review

16 Scopus citations

Abstract

Atlantoaxial instability (AAI) occurs in 15% of children with Trisomy 21. Health supervision guidelines were revised by the American Academy of Pediatrics in 2011 to reflect advances in care for children with special health care needs (CSHCN). Previous guidelines recommended cervical spine radiological screenings in preschool years to evaluate for atlantoaxial instability. For patients with negative screening, re-screening was recommended if they wished to compete in the Special Olympics, or became symptomatic. We present the case of an adolescent who developed a symptomatic atlantoaxial dislocation despite previous negative radiological screening at the age three (under the 2001 guidelines). This case report highlights the revisions in the 2011 guidelines for health supervision and anticipatory guidance. It underlines the need for a high index of suspicion if symptoms develop. It also addresses the need for a medical home for CSHCN, with health care providers who know the child's baseline health status.

Original languageEnglish (US)
Pages (from-to)633-638
Number of pages6
JournalClinical pediatrics
Volume52
Issue number7
DOIs
StatePublished - Jul 2013
Externally publishedYes

Keywords

  • anticipatory guidance
  • atlantoaxial instability
  • children with special health care needs (CSHCN)
  • Down's syndrome
  • health supervision guidelines
  • medical home
  • subluxation
  • trisomy 21

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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