Tuesday, August 23, 2011

Down Syndrome and AAI/AOI and the AAP

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. 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. 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. 


mum2brady said...

I totally agree with you. Brady was asymptomatic and actually his first c-spine series was totally in normal ranges - and then the second set showed a 9 mm gap between the occipital and C1 (the radiolist said 10 to 12 - but my neurosurgeon said he was off). So - Brady officially has AOI, and has been intubated several times for surgeries and procedures. I TOTALLY think a continuous series of c-spines should be done throughout their lives since apparently it CAN change - even though the AAP doesn't think so. They are missing the boat!!!

blcmec1 said...

Leah was explaining this to me and I was very surprised. I am sad and angry too - makes me feel like they don't care about our kids. After the initial c-spine xrays showed a 10mm gap for Mark the neuro we were seeing wanted to wait and watch instead of doing an mri. My pediatrician was reluctant to order an MRI(I had to email Dr Samdani the xray results who emailed the mri order to my ped - grrr). Now we will see Dr Samdani on thursday and only then will I feel like we are getting the correct information on all the test results. I will be passing your blog post onto our local ds email group and to my ped's office.
- Maureen

Sweet Pea's Mommy said...

Thank you for this post. The AAI part was really confusing in the AAP recommendations and I was going to talk to my ped about it next time we went in. I'm still going to have Sweet Pea checked and I'm glad my ped won't argue the matter. So sad that the AAP made this change!

Steph said...

My future daughter-in-law, age 6, (haha) just recently had her trach removed after an almost 2 year ordeal with the halo, 2 spinal fusion surgeries, a failed trach removal due to paralized vocal cords and a whole lot of touch n' go's. She was admitted to the hosptial as a quadrapalegic (sp?) and was given many miracles along the way and is learning to walk. She showed signs but all the xrays over the years were inconclusive. Even when she was losing the use of her limbs one by one and could not even sit the doctors were still confused. UGH! My 2 boys with Ds will be getting xrays yearly. GREAT post.

Katrina said...

Just wanted to add that the x-ray is not always a good diagnostic test to detect AAI or AOI. Brant had the x-rays and was cleared at age 3 for horseback riding (hippotherapy) At age 4 he had an MRI and we discovered that he had severe impingement of his spinal cord from c1-c4 and required surgery to repair it. He did have symptoms that the professionals felt was caused by something that had already happened and wasn't progressive - either a cyst on his brain, a previous stroke, silent seizures, or CP (which was why he went for the MRI). They never suspected his spine because he had the x-ray that showed his spine was fine (it showed 5mm of slippage which was within the realm of normal for a child with down syndrome, I was told). So I urge any parents whose children are showing signs (such as pronounced dominance on one side, muscle deterioration on one side of the body, tilting head to one side) to also request an MRI.

Laurie said...

Hi Renee,
Thank you for your post. My son Dylan is now 3 and had open heart surgery at 4 mo. They did the xray at the pre-op and said everything looked well. I am currently waiting for our appt. at the Boston Children's Ds Clinic, but thought I would ask you as well - since Dylan had the xray already, do you know if he needs another one at this point in time?
Thanks Renee!

Keri Mae said...

Wow, thanks for the wake-up call. Our docs don't know much about DS, and even though this was on my radar (a long time ago), I had forgotten about it. I guess I need to read up more on what to do when. Thanks.

The Sanchez Family said...

The other issue for us is getting the xray done correctly. Joaquin's had an xray at 18 mos because we were going to do an intense physical therapy program with him and the results were inconclusive because he was so young. We did one a couple months ago after his third birthday and they technician did it wrong. Then I heard the guidelines were changed so I was just going to forget about it. Now reading this I'll go back in and get it done. So scary!

Anonymous said...

The reason the AAI distance can change is that The C1 vertebrae (also called Atlas) is shaped like a ring. The C2 vertebrae (also called Axis) has a peg, called the dens, that protrudes upward and sits inside the atlas. We have a ligament which holds the dens against the front of the ring of the atlas, leaving the remainder of the ring free for the spinal cord to pass through. Some people with DS are born without this ligament, which allows the dens to potentially slide back and compress the spinal cord. so you can imagine that it would just depend on the position of the vertebrae at the time the xray was taken. Sometimes you can see evidence of AAI instability on a straight lateral film but it wont always show up. That's the purpose of doing a flexion view- it places the maximal amount of stress on that ligament (or the place that ligament should be), so if there is going to be excessive movement, it should show up. In kids up to about 5mm of space is normal.
Hope that helped a little... I'm studying radiology at the moment.

Lynn said...

Thanking the Lord that Kennedy's doing so well!
Stopping by to let you know you're still in my prayers!
Psalms 62:1-2 Truly my soul waiteth upon God: from him cometh my salvation. He only is my rock and my salvation; he is my defence; I shall not be greatly moved.
Prayer Bears
My email address

Katie said...

I know this is unrelated, but I found this video and it made me think of you: http://www.youtube.com/watch?v=T549VoLca_Q&feature=player_embedded. It has some strong language, but it TRULY is not ok to use the r-word!

April Kelly said...

My daughter is four months and has a head tilt and tends to favor one side? Is this too early to be worring about this?

Laura said...

My dd's pediatrician does not recommend the X rays, but thankfully he was willing to order the test at my request. I am taking my daughter in tomorrow morning to have it done. Thank you for all of the information & I will be sure to ask to have the proper views done. Wish us luck!


Laura said...

Well, I took my dd for her Xray yesterday & discovered that the order was not for extension & flexion views. I declined having the wrong Xrays done & now need to go back to my dd's pediatrician to have the order corrected. I am suspecting that the ped is not aware of the need for these types of xrays. Are you aware of a medical website that I could give the ped to explain this to him? Your blog is wonderful & I really appreciate all of the easy to understand information, but I know he will want a reputable, medical source.

Thank you


kiwiaussie said...

My daughter used to favor one side right from birth. She seems to have outgrown this, but it does still worry me. Here in Australia, they don't do the xrays any more, saying they are not accurate. But when she was in hospital for grommets a couple of weeks ago, she ended up sharing her room with a 9 year old who had AAI and was having her wound opened and cleaned out after infection set in. Her problem showed up over a couple of weeks of complaining about a sore neck, but her parents had never been warned about AAI so didn't realize how serious it was. Reading your article, I think I will definitely be asking for the xrays for my 3 year old!

Anonymous said...

I am a PT currently going for my doctorate and chose this topic for my final project. I am in the middle of my research but so far what I have found is: radiographs should be taken at age 3 in a lateral view: neutral, flexion and extension positions to assess the atlanto dens interval AND the neural canal width. Often times earlier radiographs are not accurate due to the underdeveloped bone mineralization. The transverse ligament is lax in Down syndrome children and this is often the reason that the dens impinges on the spinal cord. If neurological signs and symptoms are present at any time an MRI or CT scan should be taken to assess spinal cord involvement. Special Olympics still advocates for xrays even though the AAP doesn't. My recommendation to the parents of children with DS that I treat is to obtain the xray. The purpose of my project is to educate the caregivers/families/teachers etc on the clinical symptoms that present itself as well as activities to avoid due to ligamentous laxity in DS. I believe strongly that education is the key in prevention and catching AAI at an early stage. It is important that the radiologist has experience taking these films as well as interpreting them. Prior to surgical procedures (even if before age 3), xrays should be taken. Signs and symptoms to look for include: changes in behavior, gait (clumsiness, loss of balance), complaints of neck pain or holding their head in an abnormal pattern, changes in bowel and bladder, clonus in their ankle, changes in tone or unusual fatigue. I hope some of this helps. Good luck to all of you and continue to be strong advocates for your children. I admire you all.

rachelm said...

Excellent advocacy; thank you.