Atlanto-Axial Instability and Children with Down Syndrome

As therapists, we are always encouraging children to run, jump and play. There are times when physical activity could be dangerous to your child’s health, however, especially children with Down syndrome. Children with Down syndrome are at risk for developing a condition called Atlanto-Axial Instability (AAI). AAI is a condition in which the first and second bones of the neck have too much flexibility. These bones, called cervical vertebrae, can cause damage to the spinal cord when there is too much flexibility. 

How common is Atlanto-Axial Instability in children with Down syndrome?

Approximately 15% of children with Down syndrome have AAI and have no symptoms. Only 1-2% of children with AAI have symptoms.

What are the symptoms of Atlanto-Axial Instability?

Although physical symptoms of AAI are very rare, some symptoms that could indicate pressure on the spinal cord include:

▪ Neck pain

▪ Torticollis or tilting of the head and neck

▪ Loss of balance or changes in walking pattern

▪ Changes in sensation in the hands or feet

How do I know if my child has Atlanto-Axial Instability?
AAI is diagnosed through a series of neck X-rays. X-rays of the head and neck are taken from the side (lateral view), with the head bent forward (flexed), and with the head tilted backwards (extended). On X-ray, a space between the 1^st and 2^nd cervical vertebrae larger than 4.5 mm is positive for AAI.



Does my child need to have X-rays if they have no symptoms?

Previously it was recommended that all children with Down syndrome have X-rays taken during their preschool years (ages 3-5). Any child who wants to participate in sports should have X-rays prior to starting the sport as well, even if previous X-rays were negative. This will ensure that it is safe for your child to participate.  In 2011, the American Academy of Pediatrics released updated guidelines and the updated guidelines no longer recommend X-rays for all children with Down Syndrome.  The 2011 guidelines state "Children with Down syndrome are at increased risk of atlantoaxial instability. However, not until age 3 years will they have adequate vertebral mineralization and epiphyseal development for accurate radiographic evaluation of the cervical spine. Plain radiographs do not predict well which children are at increased risk of developing spine problems. Therefore, routine radiologic evaluation of the cervical spine in asymptomatic children no longer is recommended."

If my child is diagnosed with Atlanto-Axial Instability, are they restricted from physical activity?

Children with AAI can still participate in physical activity; however, they should avoid activities that put excess strain on the head and neck. Activities that should be avoided include:

▪ Gymnastics, tumbling and somersaulting

▪ Vigorous jumping/bouncing, such as trampoline activities

▪ Contact sports such as football, hockey and soccer

▪ Diving

Where can I find more information on Down syndrome or Atlanto-Axial Instability?

Your pediatrician and your child’s therapists are great resources for information. There are also several national and local agencies with excellent information, including:

▪ National Down Syndrome Society:

http://www.ndss.org/

▪ National Association for Down Syndrome:

http://www.nads.org/

▪ Down Syndrome Association of Houston:

http://www.dsah.net/

Sommer L. LaShomb, PT, DPT, PCS

Physical Therapist