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Down Syndrome and AAI/AOI and the AAP

Posted Aug 23 2011 12:00am
So, if you're part of the Down syndrome community and/or if you've been reading my blog for awhile, you've undoubtedly heard about Atlantoaxial Instability (AAI) and Atlanto-Occipital Instability (AOI). I've talked about it a lot! However, I will do  brief overview for those of you who may be new here (or have a new baby with Down syndrome). I'm going to try not to get too long winded.

Around age 3, it has been recommended that children with Down syndrome get a c-spine x-ray to check for AAI and AOI. Some children with Down syndrome have this done younger than age 3 because they're going to have surgery and it's a standard precaution. So what is AAI and AOI? In laymen's terms, it's a separation between the vertebrae of the spine. AAI occurs between the C1 and C2 vertebrae. A normal separation would be under 5mm. AOI occurs between the occipital lobe and C1 vertebrae. A normal separation there would be 1mm.

AAI occurs in about 10% of kids with Ds. (For the record, Kellsey is one of these kids.) Most times it does not require surgery, but the child may be put on precautions such as no somersaults, no trampolines, no bounce houses or horseback riding... nothing that can further jar the neck. Sometimes though the gap is so large that it causes impingement on the spine. If not surgically corrected, this can eventually lead to paralysis or death. Many children with AAI have no symptoms of spine issues and therefore that pre-surgical x-ray or the routine x-ray done around age three is crucial.

AOI works very much the same, though it is more rare than AAI. When we had Kennedy's x-rays done at almost age 4 (she was busy with chemo at age 3), we were already at the hospital for a check up with her oncologist and I asked for orders for her x-ray on a whim. I had no reason to worry, no reason to think anything was wrong with Kennedy's neck, I just wanted to get it out of the way. Turns out that instead of the typical 1mm gap that most people have, Kennedy had a 12mm gap. She had severe AOI. Through a friend we were quickly put in touch with doctors at Shriner's Hospital for Children in Philadelphia who confirmed her AOI and recommended spine fusion surgery. In the meantime she was put immediately into a neck brace to stay safe. Any car accident, any bad fall, any wrong move would have been a "catastrophic event" for Kennedy. It could have killed her immediately. She had 16 surgeries before this time where she was intubated... any one of those intubations could have snapped her spine and she'd be gone. Just like that.

On July 2, 2008, Kennedy had spine fusion surgery at Shriner's Hospital for Children in Philadelphia and was put into a halo.
They fused her from her occipital lobe down to her C3. She had slight AAI as well and decided to just fix it all while they were in there. She was supposed to be in a halo for 6 months, but we had problems with the halo pins and it came off in 6 weeks instead and she went back to a neck brace. 

And this is what her spine looks like today... from the inside. She has lots of wires, titanium plates and cadaver bone in there. (That's a lovely thought, right?)
Today she is doing great! She goes back to Philly once a year and still has a few restrictions on what she can do, but she's here, she's alive and she's no longer in danger of a "catastrophic event". She was lucky, because her AOI was discovered and fixed before anything bad could happen. If you would like to read more about Kennedy's surgery, you can find the whole ordeal (in backwards chronological order) right here
Other kids have not been so lucky... Rhiannon Nisley
Take Rhiannon for example. In March, 2009, this sweet girl was just days away from her second birthday when she became suddenly ill. A few days later she passed away. Her parents were of course, devastated. An autopsy showed that Rhiannon died of spine impingement from Atlantoaxial Instability. She was over a year away from even being routinely checked for this condition. Her death rocked the Down syndrome community to the core. It woke people up and made them pay attention. 
Marcus Dickinson
However, many parents and pediatricians are either uneducated about AAI or brush it off as one of the "ghosts of Down syndrome". Yes, it's rare. And if you have a child with Down syndrome, chances are your child will be cleared with that one simple c-spine x-ray and you won't ever have to worry about it again. However, the new AAP Guidelines for Down syndrome were released a few weeks ago, and guess what they changed? They are calling this routine x-ray "unnecessary" unless the child is showing symptoms. Kennedy had no symptoms. Kellsey has no symptoms, yet she's living with AAI. Rhiannon had no symptoms. Axel , a 10 year old boy with Down syndrome who was recently adopted from Serbia, had no symptoms. However, his x-ray showed impingement on his spine. If he had not been home with his family, he probably wouldn't be alive much longer. His halo was just removed a few weeks ago following his spine fusion surgery in Philly and he's doing great now! He loves to point to his head and tell his mama, "Halo OFF!" with a huge smile. :) His future is now wide open. Marcus , another sweet boy adopted from Ukraine had no symptoms. He too had severe AAI and underwent spine fusion surgery with Kennedy's surgeon in Philly. He's doing fabulously now, thanks to an early catch with a c-spine x-ray. Axel Spring
For the AAP to say they want to wait until there are "symptoms" is ridiculous. They are signing death certificates for some of these kids. There will be children with Down syndrome jumping on trampolines, doing somersaults in gymnastics, and going to birthday parties at bounce house places and one day those non-symptoms could turn into a "catastrophic event". 
If you have a child with Down syndrome, you may be asking yourself, "What is she trying to do, scare us?" Yes. I'm trying to terrify you! For the sake of your children. It ticks me off that the AAP has so carelessly made this recommendation and that SO many pediatricians refuse to take AAI and AOI seriously. I have heard parents time and time again say that their pediatrician refuses to even write the order for the x-ray because it's not necessary. Really?! It's an x-ray. It takes five minutes. You need to demand that your child have this x-ray done around age 3... you need to emphasize that they write on the order to do "flexion and extension views" because many x-ray labs do these x-rays incorrectly. 
Before your child gets on a trampoline, before they get on a horse, before they climb into a bounce house, before they join that gymnastics or tumbling team, before they have ANY surgery requiring intubation, please get that x-ray done. This is SO important, and as parents of kids with Down syndrome, we need to stand up against the AAP and their "guidelines" because they're putting our children's lives in their hands. By the time our kids show symptoms, it's too late. If your pediatrician disagrees, then it might be time to find a new one. 
If you have any concerns that your child may have AAI or AOI or if your child's x-ray comes back positive for one of these, you can always get a second opinion and talk to the country's leaders in spine fusion surgery at Shriner's Hospital in Philadelphia . They are on the cutting edge of AAI/AOI research and technology and will soon be opening a clinic dedicated solely to this condition. Shiner's Hospital provides medical care to all children free of charge and travel arrangements can be covered as well. Please take this seriously. Please don't let your child's ped brush you off. This "ghost of Down syndrome" is alive and very real and it can affect your child. I'd love to see this message spread throughout the Down syndrome community, and I'd love to see my friends who are pediatricians pass it along as well. If you're a ped reading this, please please please kindly ignore those AAP guidelines and order that x-ray! It's 5 minutes that can save a life. 
*You can contact Dr. Amer Samdani at Shriner's Hospital for Children in Philadelphia at 3551 North Broad Street, Philadelphia, PA 19140 (215) 430-4000. 
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