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Saturday, March 14, 2009

Atlantoaxial Instability and Down Syndrome

Earlier this week, I spoke with Rhiannon's cousin about a memorial gift. During our conversation, she told me that Rhiannon's death was verified to be caused by a spinal cord injury due to Atlantoaxial Instability (AAI). Rhiannon had been sick with Croup the week prior to her passing, so when she had difficulty breathing, was lethargic and began vomiting the day prior, her parents took her to see the doctor. The doctor felt it was just caused by the coughing and congestion due to the croup/cold. No one realized that the respiratory failure was due to a spinal injury.

The standard medical protocol for children with Down syndrome states that they should get an xray to test for AAI around the age of three. It is required before starting any sports teams or equine therapy. Most surgeons will order this xray prior to any surgery involving intubation, due to the hyper-extending of the neck that is required. One quick, inexpensive xray can show if your child with Down syndrome is amongst the 30% of children with Down syndrome that have this condition.

Rhiannon was never tested for AAI. She wasn't in the age bracket for it yet. She hadn't needed surgery with intubation. She didn't show signs of a potential problem until it was too late.

Doctors say, "Oh it's so rare. Even if they do have it, it is very unlikely it will cause any issues."

According to the link above:
The primary complications result from spinal cord compression.

In most cases, signs and symptoms progress slowly. The diagnosis can be made, therefore, before the advanced stages of the disease.

Death is unusual but may occur in cases of acute decompensation as a result of respiratory arrest related to compression of the high cervical spinal cord.

Several studies have shown that serious complications are indeed rare.


Rhiannon's terrible death may be an unusual result of this condition, but it is a reminder of how important it is to keep looking for complications! Please, please make sure your child with Down syndrome is screened for AAI.

12 comments:

  1. Thanks for posting this Deborah. Its on my list of things to ask about at the DS clinic in May.

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  2. WOW that is SO freaking scary! Do you mind if I talk about this on my blog too?

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  3. Thank you for the excellent information! Do you know how she was injured? My kids play so rough with Ralphie that I sometimes get a little freaked out.

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  4. Renee- yes, please do! I really think it is a serious risk that parents need to know about.

    Stephanie- I'm not sure that it was a specific incident that sparked the compression. They said that she had been coughing a lot due to croup and maybe the head jerking from coughing started it? They did CPR on her when she stopped breathing at home, plus intubated her at the hospital when she was transferred. By the time they would of done xrays it was too late, too much damage had been done.

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  5. Thanks Deborah!I'm glad you let us know what happened.I read the story and was so saddened by it.It is a little scary to me all the things we have to watch out for in our kids with Ds.

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  6. That is heartbreaking. Clearly those xrays need to be done sooner. It would make more sense to do them as soon as the child is active at all. We had Chelsea's done at 2 1/2, but I worried about it all the time, it just doesn't make sense not to do them when the kids are active.

    This family is in our prayers. They are so close by too. So sad.

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  7. Wow, I know we never worried about AAI until age three. How sad. Thanks for the info.

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  8. Just so sad! Thanks for sharing. Noah had the Xray at 2 and again at 4.

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  9. So sad and very scary to think this really happened. I will keep this family in my prayers.

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  10. My heart is breaking for her parents, how could they have known. My thoughts and prayers are with them.

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  11. This is so terrible!! We knew to be careful with Aidan before his xrays, but who would think that coughing and croup would be enough to cause serious injury. This is so scary!

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  12. Oh, yes this is so very scary! Our newly adopted son Axel has AOI/AAI and we're waiting for surgery now. He ALREADY has spinal cord damage and is a neck brace 24/7 until surgery. To say we're freaked out right now is an understatement.

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