Rescuing our son: Checking for Atanto-axial instability (AAI) —Neck X-ray

By the end of August last year, I began to feel more and more uncomfortable because of Tommy's regression. Something wasn't right! I had to find out the cause to fix the problem. So I contacted our local Down Syndrome Center. They checked his chart and the only possibility they found was: Atlanto-axial instability (AAI). The x-rays he had last year show he had a borderline for AAI, so his regressions in his gross motor skills and overall muscle weakness showed after the hospitalization may be linked to AAI.


What is Atlanto-axial instability (AAI)?

"According to MedScape Atlantoaxial instability (AAI) is characterized by excessive movement at the junction between the atlas (C1) and axis (C2) as a result of either a bony or ligamentous abnormality. Neurologic symptoms occur when the spinal cord is involved. The causes of AAI are varied. AAI sometimes results from trauma. Other cases occur secondary to an upper respiratory infection or infection following head and neck surgery. Another cause is rheumatoid arthritis (RA), with its predilection for the upper cervical spine. In addition, congenital anomalies, syndromes, or metabolic diseases can increase the risk of AAI."

What are the symptoms?

AAI could be asymptomatic. According to the National Down Syndrome Congress, "The 13-14% of individuals who have asymptomatic atlanto-axial instability require no special medical or surgical treatment. However, these individuals may want to avoid activities that may put extra strain on the neck. High risk activities include gymnastics (especially tumbling and trampoline), diving, swimming the butterfly stroke, high jump, soccer, and collision sports (such as football). Individuals with asymptomatic AAI should have more frequent medical and x-ray follow-up. For the 1-2% of individuals with symptomatic atlanto-axial instability, surgical stabilization of the vertebrae is necessary. Such surgery should be performed by a neurosurgeon or orthopedic surgeon who is familiar with Down syndrome and who has experience treating atlanto-axial instability."

Do the neck x-rays diagnose Atlanto-axial instability (AAI)?

No, the neck x-rays are a screening and they are not 100% accurate. An MRI is necessary to diagnose AAI. According the the National Down Syndrome Congress, the "Screening for AAI involves both x-rays and physical examination. The physical examination looks for any changes that might suggest pressure on the spinal cord. X-rays of the head and neck are taken from the side (lateral view) with the head in a normal position as well as with the head bent forward (flexed) and tilted back (extended)." 


A space between parts of the first and second cervical vertebrae (atlanto-dens space) of 3 millimeters is considered normal.  The space between 4 and 5 millimeters is considered borderline and more than 5 millimeters is considered suggestive of atlanto-axial instability.

My husband took Tommy to the radiology appointment in Feb. 2011. My husband commented that the technician said that the films may be wrong because Tommy was moving. The results showed that Tommy's atlanto-dens space was borderline. So Down Syndrome Clinic suggested to repeat the x-rays this year.

If some how the regressions would be linked to the AAI, it may due to Tommy's fights against the nurses due to the pressure in his face and neck to keep the oxygen mask on. I didn't know how strong Tommy's was until I saw him fighting back against 4 nurses. So they did what they had to do to keep him breathing. If the AAI got worse because of the fights during the hospitalization and his regressions were symptoms of AAI, the next step may be surgery. So once again, I got armed with courage and got *plan "B" while I was waiting for the appointment on January 11, 2012.


We had to wait about 3 months for  a neurosurgeon see Tommy. Finally, the day for the appointment arrived. we went to  the appointment, but  the neurosurgeon felt he didn't have enough experience with kids who have Trisomy 21. So Tommy was recommended to a other doctor in the Neurologist Division and he restricted Tommy from any activity that could cause rough movement in his neck until the new doctor saw him. We got the next appointment for February 7. It means today! I am glad to say Tommy is out of any risk. The x-rays showed his AAI is 3mm, completely in the normal range. The Neurosurgeon also asked questions about his regressions in the are of motor and we are glad to say Tommy's muscle weakness has improved as well as his balance, very close to were he was before. So new x-rays won't be necessary until he gets older. The current recommendation is every 10 years. So AAI has been ruled out from the list as a possible cause of his regressions and worse his sensory issues. 

Why surgery is the option for symptomatic atlanto-axial instability?

Surgery is recommended because the person can get paralyzed for the rest of his or her life or can die. So there is not doubt in my heart if symptomatic AAI comes across in our journey, I will everything for my son having the surgery. A low percentage of a people with T21 experiencing  AAI need the surgery, but the risk is higher for them than for their typical peers.  A lot of kids with T21 experiencing asymptomatic AAI grow out of it. 

I have to thanks Tommy's teacher, therapists, extended care staffs and everybody at Tommy's Preschool and Day care for caring so much about him when they knew about the possibilities of having symptomatic AAI. They were doing everything they could to keep him safe. This make feel confident to let my precious boy under their care while I am working. Thanks so much! 

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*PLAN B

If my son would have needed the surgery, I wanted the best for him. This means the best surgeon, the best hospital. So I contacted a blogger friend "myspecialks.com." She gave me good information if my son would need surgery. So I want to share it with all parents with a child facing symptomatic AAI:
Shriner's Hospital for Children in Philadelphia has top spine surgeons in the country. One of the best surgeon for AAI is Dr. Amer Samdani, he is currently working in open a AAI clinic. You can contact Dr. Samdani at:

Shriner's Hospital for Children

3551 North Broad Street, 

Philadelphia, PA 19140 

(215) 430-4000. 

Because of the health care of a child with a genetic disorder requires money, we always are worried about medical bills. Shriner's Hospital for Children doesn't reject any patient because of money. Shriner's Hospital for Children pays for all travel and all medical care. I didn't get more information how to apply for them to pay for the medical bills, but it is a great relief to know about it.