Vol. 11, Issue 2 (2025)

Background: Basilar invagination is a serious but often underdiagnosed condition in children with Down syndrome, arising from congenital abnormalities of the craniovertebral junction. While surgical treatment is well-established in symptomatic patients, the management of asymptomatic individuals remains controversial. This systematic review aimed to address the central question: Should asymptomatic children with Down syndrome be screened and surgically treated for basilar invagination?

Methods: A systematic search was conducted in PubMed, Scopus, and Web of Science, including studies published from 1980 to 2025. Eligible studies focused on pediatric patients with Down syndrome diagnosed with basilar invagination or atlantoaxial instability. Data on diagnostic methods, screening practices, surgical techniques, outcomes, and complications were extracted and synthesized narratively.

Results: Twenty-one studies met the inclusion criteria, encompassing over 580 patients. Atlantoaxial instability was reported in up to 30% of children with Down syndrome, with many cases initially asymptomatic. Imaging techniques varied widely, and no universally accepted radiographic criteria were identified. Surgical treatment-mainly posterior occipitocervical fusion was associated with good neurological outcomes, though complication rates were higher than in the general pediatric population. Screening protocols varied, with some authors recommending routine imaging between ages 3 and 5, while others advocated selective evaluation based on symptoms or risk exposure.

Conclusion: There is insufficient evidence to support universal screening or prophylactic surgical treatment in asymptomatic children with Down syndrome. Current data favor a targeted screening strategy, combined with individualized clinical judgment and serial monitoring. Surgical intervention should be reserved for symptomatic patients or those with radiographic progression. Further prospective research is essential to define risk thresholds, optimize screening protocols, and guide surgical decision-making in this vulnerable population.