Does anyone know a good resource for research done on young kids with central apnea?

We are kind of at our wit's end. We have been told our son is "quirky" a few too many times and feel like there must be something to all of his "quirkiness".  I'll give a brief rundown...

Blood counts routinely come back as abnormal, but not extreme (requiring any more attention than routine monitoring)
Malformation at brainstem, but not extreme (neurosurgeon, at 5 months age, did not feel it warranted surgery)...NOT a Chiari Malformation...just a general one that's "unusual"
Central Apnea...72 episodes, age 4 months; 10 (very mild) episodes, age 10 months; 26 episodes (new scoring system, significant lengths..up to 24 seconds), age 20 months...
Sleep study....Desats >4%, desats >3%, never below 90% (got as low as 91.3% for 18 seconds...)
Growth...He has a growth chart that you could make into a thrilling roller coaster ride.  He started at about 40% H&W. He has had 3 downward curves (once falling entirely off the growth chart) and only 2 upward curves (that were pretty steep, from 5% to suddenly 20%)...
EEG...normal..Nothing of any concern
EKG...normal..Nothing of any concern

We look at all this information and think...There has to be something behind all of it, but cannot seem to get a doc to come on board with us because Isaac is abnormally intelligent and has achieved excellent fine and gross motor skills for his age. His neurologist at 8 months old couldn't understand why we were there because Isaac has no known neurological issues and was already saying 2 word phrases.

Has anyone walked this road before?? Do you have any good ideas or a doc that you would recommend I talk with? Our gut just doesn't buy that we have a "quirky" kid and there's nothing they can do to fix it..

Sorry it's long, but the whole story is important this time...Thank you

Tiffany-
I am not a medical professional. It sounds like things currently seem to be going well for your son but, reading between the lines, it sounds as though he has been the source of serious medical concern in the past. To make a recommendation as to who your best resource(s) might be, it might help to know, in general terms, about the problems your son has had and any medical diagnoses he has, where (generally speaking, on the level of what part of what state) you live and what doctors you have been working with.  It might also be helpful to know whether there are other child development professionals who have been involved in your son's care.

Best wishes,
Bill

Diagnosis: Central Apnea, the only official diagnosis he has had
Tests: MRI, Results: "slightly low-lying cerebellar tonsils. There is no Chiari malformation"
         EEG, Results: "The dominant background is 6 to 7 cycles per second moderate voltage rythms. While in drowsy sleep state, moderately higher amplitude 3 to 4 cycle per second activity was noted. There was observed spindling activity on the frontoparietal head regions with sharp waves over the vortex head areas while in sleep state. Latter stages of sleep note moderately higher amplitude activity."
         EKG, Results: I don't have the final report yet, but it was quoted to me as "normal sinus rhythms"
         Sleep Study results: have fluctuated, but he clearly has central apnea
         Blood Tests: He has generally high platelet counts, but apparently are not of great concern. He also has generally low red blood cell counts and hemoglobin.
         X-rays: 2 Chest X-rays show no abnormalities in the chest cavity.

He has had the following specialists beyond his regular family doc. They are listed in the order of acquisition:
        Neurology, Pulmonology, Neurosurgeon, Hematologist, Orthopedic Surgeon (unrelated to the apnea)
               The Neurosurgeon, hematologist, and the orthopedic surgeon are out of the picture right now. I have just scheduled him back with his neurologist for the first time in over a year!

We are in SE Michigan. He currently receives about 90% of his special care at Children's Hospital of Michigan in Detroit. We are open to travel if it is needed!

He currently (at 21 months of age) sleeps about 15-17 hours/day. This is about 11-12 hours of sleep/night, 2-30 minute naps a day, and 1-3 or 4 hour nap each day.
At age 13 months, he was only sleeping between 12-14 hours/day. The new sleeping patterns were noticed at about 16 of 17 months of age...

Hope this helps!! Tiffany

PS...I will gladly share whatever info I have if it helps solve the mystery!!

Tiffany-
In earlier posts you refer to your son as having been blue at birth and it appears from your description that there have been some concerns about growth. If you could provide a little of that history and a brief synopsis of the involvement of each of the specialists andd briefly what they looked at and anything they found or did. That might be helpful in determining what resource might be most appropriate.
BTW- I'm originally from Ann Arbor and still have family up there.

Best wishes,
Bill

Bill, Thank you for making me think of everything..This is really what I need most right now..

He was not blue at birth, although he did have breathing difficulty because he swallowed some meconium.  He did not have his first known apnea episode until he was 10 days old and turned blue in my arms while sleeping. We had a monitor before 5:30 that night.

His growth chart has gone 25% to 5% to 20% to falling off the chart to back on it at 20%, with a few other checks in between mostly on a downward curve. His last measurement was at 18 months. He weighed 23# 5oz, and was 31.5 inches tall.

Neurologist to rule out seizures as a cause of the apnea events. He ordered an EEG which came out normal. He couldn't find any direct neurological reason for the apnea events and left it to the pulmonologist to figure it out.  Isaac is going back on Feb. 14 because the pulmonologist is going to turn us loose...basically giving up on him..

Pulmonologist to investigate. Ordered GER Scan, Chest X-ray, Sleep Study, and MRI.  Isaac had virtually zero reflux. His chest x-ray was completely clear, His sleep study at 4 months age showed 74 central apnea events (4 times dropping below 90% oxygen sats). His sleep study at 10 months showed 10 central apnea events with only 1 drop below 92% oxygen sat. His most recent sleep study at 21 months showed 26 central apnea events, 2 hypopneas, and 4 obstructives, 26 drops below 92% and none below 90%.  MRI showed "slightly low-lying cerebellar tonsils", similar to a Chiari malformation. This landed us at the neurosurgeon.

Neurosurgeon looked at his MRI and evaluated his development at 5 months old. He determined that it was not surgery worthy and sent us away.

Hematologist. I had noticed that Isaac's routine blood tests were coming back with consistently high platelet levels and low red blood counts. It took me almost 2 months to convince our pediatrician to let us see a hematologist (with the push of the pulmonologist). He was evaluated and had 2 or 3 appts with them. They told me had quirky blood and that there wasn't anything that they thought deemed worthy of further attention and told me that unless his platelet level reached a certain point, they did not want us back.

Orthopedic Surgeon was seen because of an accident that landed Isaac with several stitches in his finger and a cast. We were done with them in 3 weeks!

So that is where we stand with docs. I am looking to the neurologist to investigate a little further and hopefully find some answers among all the clues..

If you know of someone in the area that you think might be ideal to look into this or to seek for a second opinion, I would certainly be interested in talking to them...

Thank you!!  Tiffany

May I assume that your specialists were also pediatric specialists in their fields?
Did the neurosurgeon give any indication as to why he felt that that sugery was not a good idea (age, lack of need, risk of complications) and whether there were any factors that might cause him to consider surgery at a later time?
If your doctors don't think that this is a Chiari malformation, did they give an idea of how they would diagnose your son's condition with the low-lying cerebellar tonsils?

I am certainly no expert, but there do appear to be similarities between your descriptions of your son and some of the traits of Chiari syndrome. You might try browsing the Chiari Connection International website
(http://www.chiariconnectioninternational.com) for more information about Chiari malformation and related disorders. They also have a list of doctors here: http://www.chiariconnectioninternational.com/doctorlist.html and they do list a doctor in Detroit and they have an e-mail contact who might be able to give you a better idea as to whether this doctor might be a good resource for you (assuming that this is not a doctor you've dealt with already). I would also check with your son's neurologist about this doctor and whether a consultation might be in order, and whether he believes that the condition with the low-lying cerebellar tonsils (whether they are Chiari or not) could be causing the sleep apnea and whether it might have contributed to the growth problems.

There may be some other options worth pursuing as well, but I will neded a bit more time to consider what options might be most likely to help.

Best wishes,
Bill

Tiffany,

All peer reviewed research published in the world is archived here:

Pubmed

You can put terms into the search field and you will get a list of abstracts (a summary of the research).  There is a link to the complete article which many times is free.  Other journals require a fee to purchase the article.

Vicki


_________________
That which does not kill you makes you stronger-Friedrich Nietzsche
Friedrich must of had apnea.

Bill,

Thank you for the info. That's kind of where we are hoping to go, in terms of finding out if the "low-lying cerebellar tonsils" are playing any sort of factor in this...I will certainly check out that website...

All of Isaac's specialists have been pediatric (at Children's Hospital in Detroit). The neurosurgeon did not feel like it was severe enough to warrant surgery. That the potential benefits would most certainly not outweigh the risks. He even showed us on the MRI what they looked like and then showed us what "normal" looks like on a 5 month old. We tended to agree with him that it was not the right time to put an extra hole in his head!  We're not so sure now...

Thank you again....I do appreciate your help. I will things updated!  If you want to see a pic of the little guy, you can check out his blog at www.theacuffs.com/blog

Tiffany

Tiffany-

I've been doing a bit more research and I have a few other thoughts that I hope might be useful. If, on the other hand, things have settled down and you feel more comfortable with the path immediate ahead for you and your son, feel free to ignore this until you feel a need for more ideas.

Central apnea is thought to be caused by impairment of the normal mechanisms that are responisible for respiratory drive.
This can result from problems of the brain and nervous system, of the lungs, or of the heart and circulatory system. While it is important to try to identify or rule out possible causes for central apnea, it looks like in many cases a cause for central apnea cannot be identified.

I have read a few references that suggest that central sleep apnea may be linked to failure to thrive (the growth problems he was having).

Even where the cause for central apnea cannot be identified, there are a few other strategies that acan be used in addressing central apnea. It appears that sometimes a medication to stimulate the respiratory system (including caffeine and theophylline) are helpful. There is a special type of CPAP device for adults with central apnea known, I believe, as an Adaptive Servo Ventilation device but I am completely in the dark as to whether this might be a helpful option in your son's case. You might want to discuss with the neurologist and the pulmonologist whether or not either of these strategies (or some other) might be helpful.

With very young kids, there are certain problems that they might outgrow and there are situations in which watching and waiting is the best strategy. But if you and your son's doctors elect to go this route, it would be good to have a plan for follow-up and it would also be helpful that you and your doctors have some agreement as to what to be on the look-out for in terms of potential problems.

There is also another route to go if you are wanting a second opinion, apart from the Chiari specialist I mentionned earlier.
This would be to seek consultation from a bigger medical center. In this case, this migt be Mott Children's Hospital at the University of Michigan Medical Center in Ann Arbor. (I would volunteer that one of my parents is a retired doctor at the U. of Michigan and that I got my undergraduate degree there, so I may be a bit biased). They do have a multi-disciplinary pediatric sleep clinic and some other neurodevelopmental services that might be helpful. On the other hand, I would also add that I don't have a firm conviction that your son really has a pressing need for this type of consultation and referral. But if your son's current doctors feel that your son's situation is beyond their collective expertise, then this may be an option worth discussing with them. Or if you feel that you are just too uncertain about whether your son's condition is being adequately treated, then you might also want to talk about a referral.

If you do discuss this with your son's doctors, I would suggest asking them where they would refer their child for care if their child was in the same situation as yours is medically. I suggest this both to be tactful and also to be mindful that there may be an even better resource for your son than Mott.

By the way, I did check out the blog and your son is quite the cute little fellow and the blog is nice also.

Best wishes,
Bill

Bill,

Thank you for the great wisdoms. Our current plan of action is to take him back to the neurologist (our pediatrician didn't even question when I called for a referral) on Feb. 14th. I am going to request a new MRI be done, simply because his apnea seemed to disappear and then return since his last one, and we don't believe that it will be truly reliable. While we are not fond of MRIs (they have to give him general anesthesia, which exacerbates the central apnea), it is the only way to know if the "tonsils" are playing a role in this whole mess.

Hopefully, we will have more answers on the 14th of the month!  Part of the issue with Isaac seeing the neurologist, is that he is above average developmentally. He knows the first 10 letters of the alphabet by name, sound, and sight (capitol and lower case), he can count to 6 by himself, he knows 8 colors, 6 shapes, and even knows some composers by their music. He can match colors, shapes, and sorts things accordingly. He mimics behavior perfectly and understands abstract concepts like "Obey" and "Kindness" and "Danger".  We have a blind man at our church with a guide dog, and Isaac mimics him and then says "I Newt, need puppy help see". He started this about a month ago. Needless to say, Dr. Finkel has scratched his head over Isaac before and I doubt this will be much different, but we will see!

I'll keep you posted...Tiffany

I have found someone in a similar boat.
I have been checking this forum for awhile now to see if anyone out there has infant/toddlers with central apnea and now i have found your post.

First off all, I really feel like I know what your going through.
Let me tell you whats going on with our son.
I have a son who just turned two. At 6 months of age he stopped breathing in my arms, thankfully a nurse was nearby and did CPR while we waited for the Emergency personnel. He came around fine after the CPR, we spent the weekend in the hospital and we left with the apnea monitor. At first they thought that maybe it was seizure related, we went to a neurologist who had him on medicine for a year, EEG came out good.  We got referred to the pulmonologist who we have now been seeing for the last 18 months. The first sleep study showed that as well as the central my son also had obstructive. He had is adenoids removed last November. In the last 18 months we have done 2 sleep studies, the last study was a great study for a good nights sleep...not many events.  The pulmonologist just keeps telling us that he will outgrow this. He apnea monitor will go off after 20 seconds off not breathing. The longest it has been is 26 seconds. Its weird that we had a stretch in 2006 for 5 weeks where we had no alarms but then we have had three in one night in Jan 08. We switched monitors back in Sept so that we could also measure his oxygen levels, we found out from that that his oxygen sats were dropping, sometimes as low as 80's with an apnea but then they would come back up as soon as his breaths...(which is good news). We have done an MRI (he also had to be incubated) and everything on the MRI was fine too.
I am sure I have missed things out, but I need to go soon as my son will be waking from his nap.
We have our monthly appointment this week and we have finally decided that were requested a second oppion. I feel like were always in limbo, waiting. We just want answers. There is so much info out there on Obstructive but nothing on infant/toddler central apnea.
I also meant to mention that my son is developing well another reassuring thing for the doctors...its just crazy though, we keep praying that one day soon he will outgrow this.
I have made a not off the things Bill mentioned (thank you Bill!) and I will certainly be talking to our doctor about them.
Best wishes,
Sarah