Cervical spine abnormalities associated with Down syndrome.

Area of Science:

• Orthopedics
• Neurology
• Genetics

Background:

• Atlantoaxial instability (AAI) impacts 10-20% of individuals with Down syndrome (DS), typically diagnosed via radiography.
• Symptomatic AAI, seen in 1-2% of DS individuals, can lead to spinal cord compression.
• Cervical spondylosis is common in DS, yet less studied in adults compared to pediatric populations.

Purpose of the Study:

• To evaluate the prevalence of AAI and cervical spondylosis in adult Kuwaiti individuals with DS.
• To assess the relationship between AAI, cervical spondylosis, and potential spinal cord compromise in this cohort.

Main Methods:

• Clinical and radiographic evaluation of 44 Kuwaiti subjects with DS (age ≥ 15 years).
• Lateral neck radiographs were obtained in neutral and flexion positions.
• Assessment included anterior and posterior atlanto-odontoid distances and cervical spondylosis evaluation.

Main Results:

• Asymptomatic AAI was diagnosed in 18% of subjects; congenital C1-2 anomalies were found in 12%.
• Cervical spondylosis was present in 36% of subjects, increasing with age and affecting lower cervical levels.
• Half of the AAI patients also had cervical spondylosis, indicating a higher risk for spinal cord issues.

Conclusions:

• Adults with Down syndrome exhibit significant rates of atlantoaxial instability and cervical spondylosis.
• The co-occurrence of AAI and cervical spondylosis poses an elevated risk for spinal cord damage.
• Radiographic assessment, including posterior atlanto-odontoid distance, is crucial for evaluating AAI risk in DS.