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I've heard that children with Down syndrome sometimes have neck problems. What's it all about?
The neck problems some children (and adults) with Down syndrome have are due to what is called atlantoaxial subluxation (AAI). AAI involves increased mobility at the joint where the first cervical vertebrae meets the second (the atlantoaxial joint). This condition is found not only in patients who have Down syndrome but also in some patients who have rheumatoid arthritis, abnormalities of the odontoid process of the axis, and various forms of dwarfism.
The causes of AAI are not fully understood but they may include abnormalities of the ligaments that maintain the integrity of this joint between the first (C-1) and second (C-2) cervical vertebrae or be related to bony abnormalities of either or both of these vertebrae.
AAI can be so mild as to not cause symptoms. It is only discovered as an incidental finding on an X-ray. The instability is recognized through lateral neck radiographs (films taken from the side) in which the excessive mobility of C-2 relative to C-1 results in an abnormally large distance between these two vertebrae.
Symptoms from AAI result from slippage of one vertebrae on another that is severe enough to directly injure the spinal cord.
Problems caused by AAI include difficulties in walking, abnormal gait, neck pain, limited neck mobility, torticollis (wry neck) or head tilt, incoordination and clumsiness, spasticity and other signs detectable by the doctor. Such symptoms and signs often remain relatively stable for months or years; occasionally they progress, rarely even to aralysis (paraplegia, hemiplegia, quadriplegia) or even death.
About 15% of individuals under the age of 21 who have Down syndrome have AAI. Most have no noticeable symptoms.
The Special Olympics requires a participant with Down syndrome to have spinal cord X-rays to screen for AAI. Individuals with no symptoms but with X-ray evidence of AAI are banned from participating in several activities that are thought to have a particularly high risk of spinal cord injury--in particular, gymnastics, diving, the pentathlon, the butterfly stroke and diving starts in swimming, the high jump, soccer, and certain warm-up exercises.
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