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So Who has a Chiari 1? ..... a What?

Chiari_about

By Mary Beth Palo

Exactly..... few of us probably know what that is.  

How sad, since every parent and doctor dealing with autism should know and be aware of it’s symptoms, it’s presentation  and it’s incidence rate in children with autism.  Sadly, this is not the case.

The intent of this article is to bring awareness to the existence and prevalence of this  malformation, to increase screening, diagnosis and ultimately improve the lives of many children.

So now I share with you my son's story, which includes my never ending lack of confidence in the "system", so try to bear with my sarcasm!

At the age of 6, fully immersed in the world of autism my son was very sick.  Along with all of the fun attributes of autism we were dealing with, we were now adding seizures (diagnosed as epilepsy) and some new very bizarre behaviors.  This included constantly touching his feet and quacking all day.  Yes, quacking like a duck ALL day!

A discussion regarding these behaviors led his neurologist and another specialist to diagnose these behaviors as stims.  Peeeelease.....

Beyond skeptical with this interpretation, I turned to my DAN doctor and expressed my opinion.   Thankfully he still considered me to be sane and he listened to me and agreed with me.  Instead of diagnosing merely based on my verbal explanations, he ordered an MRI.  He and I shared the opinion that the other doctors were less than thorough.



After the MRI, Brett was diagnosed with a Chiari 1 malformation.  

After he was diagnosed, our DAN doctor advised us to see “the best” doctors in the field of Chiari.  Following his advice, we went to the Chiari Institute of New York.  

After about a three hour wait, a session with a neurologist and filling out papers, we met with the surgeon.  He confirmed that Brett did indeed have a Chiari 1 malformation and reviewed the details and pictures of his Chiari 1 malformation.  After this brief confirmation of what I already knew, he said to me “yes he has a Chiari 1 malformation, but I won’t operate on him because surgery is not a cure for autism.”  And with that, he walked out the door.

After two weeks of sobbing and basically existing in disbelief as to what actually took place in that office, I came to a realization.  He (the surgeon) was wrong!  To make a long story short, I contacted our DAN doctor late in the evening.  I said to him “he’s wrong”, and he agreed and told me he would be back in touch with me in a little while.  Well, within less than an hour, not only was my fabulous doctor back on the phone with me but he had arranged for me to talk with Dr. Neil Feldstein, director of pediatric-neurosurgery at Columbia Presbyterian.  Within 3 weeks of that evening, Brett had surgery.  

Dr. Feldstein did not know what effect the surgery would have on Brett’s autism.  What he did know was that Brett had a brain malformation that needed to be operated on.  The deciding factor for us was that there was a very significant chance that Brett was in pain.  If Brett was in pain and it could be relieved then we owed it to him to relieve the pain.

The surgery was a success and Brett’s malformation was corrected through a decompression  procedure.  In my terms, Dr. Feldstein removed some of his skull bone, approximately the size of a woman's fist.  This procedure allowed for the proper amount of space for his cerebellum and for the blood and cerebral spinal fluid to flow properly to and from the brain.

We were very fortunate to be a highly successful case.  Brett's "stims" disappeared as did his seizures.  It was as if Brett had been wearing black opaque sunglasses, they had been removed and the floodgates were opened.  


Now, to temporarily interrupt this story, I need to fill you in on what else was happening.
At that time in my life, I was pretty involved in the autism world.  I was working with several groups on a volunteer basis.  During our meetings we would always discuss what was happening with our children, what treatments our children were undergoing, what interventions we were using and results.  

Well, one night at a volunteer meeting, I told this group of people - strangers to me about Brett’s surgery.  The parents of five other autistic children were at that table.  Of the five children, Three had chiari 1 malformations.  None of their children had been operated on.  I don’t think this was a coincidence!  I later shared this with Dr. Feldstein and he was stunned.  He said that the odds of all of these children having a chiari 1 were like a million in one (actually I think it was a higher number).  Basically this indicated that many children with autism have this malformation but it is going undiafnosed and untreated!

To date there is no scientific data published regarding the incidence of chiari 1 malformation in children with autism.  As a result, awareness of chiari 1 malformations is very low and so is the screening.  In my conversations with parents over the years, most of them had never heard of it.   

I have spoken with parents whose children have been diagnosed with the malformation but their doctors did not believe that it had any effect on the child.  I continue to be amazed by such assumptions.  With autism being a neurological disorder, how could anyone assume that something as serious as a brain malformation would be of no significance and have no effect on the child?

Here on Long Island, word of Brett's success spread and many children had the surgery to correct the malformation.   I know that some were very successful and that some returned more positive results than others in terms of lessening the symptoms of autism.  

I hope that many people read this article and spread awareness.  At the bare minimum, all doctors treating children with autism should be aware of the symptoms and prescribe an MRI for screening.  Oh - and also have a competent diagnostician reading the results and specifically looking for the malformation.

Please don't think this is a cure - it isn't !   For my son, it was a very big problem.  For other children, it may not be.  As we all know, autism presents differently in every child.

Indeed, the evidence does indicate that this malformation is a serious medical problem that children with autism may have.   For that reason, it should be screened for!   In addition, it should be treated.   Don't be afraid to ask for screening and get a second opinion!  

To briefly update you, ten years later, Brett is mainstreamed in 9th grade.  He still has autism but I personally consider him to be 90% recovered.  As I said, the surgery is not a cure.  Since age 4, I have been teaching Brett through video and during the last 14 years, we have done so much that I am quite sure I don’t even remember all of it.  I am very thankful that I had such wonderful doctors who believed in me and who were willing to go against the common beliefs.  It takes strength to do that and that is exactly what is required to be a great parent!   .....  to any child.  Be that “Warrior Mom” as Kim says!

There is a great deal of information on the internet and I encourage you to read up!  Here are some links to sites with information on symptoms and treatment.

NINDS.NIS.gov/chiari

ASAP.org/Chiari

MayfieldChiariCenter

Watch-me-learn-logoMary Beth Palo, Founder of Watch Me Learn Inc., video based learning for children with developmental delays.  Public speaker at local and national conferences.  Initiator of NY State autism awareness plates and legislation creating Autism Research Fund.  Volunteer advocate for national and local organizations.  Board positions on local Education and Autism organizations.  Parent education and medical advocate.  Author of published articles.  Mother of 2 children, married and resides in Greenlawn NY with family.  Graduate of St. Bonaventure University.

WEBSITE
www.watchmelearn.com


Comments

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It reminds me of the reader here who used to say "quit calling it autism." A person could have what are considered autistic like symptoms, but be diagnosed w/something else. I've wondered in the past about selective IgA deficiency, and here is something I had not heard of before, with a similar-sounding list of manifestations: Phelan-McDermid Syndrome.

https://www.ncbi.nlm.nih.gov/books/NBK1198/

Our ASD son had 2 surgeries for Chiari I at age 4. I find it fascinating to read articles about how the brainstem is affected in ASD children, (such as the ones referenced in this... http://journal.frontiersin.org/Journal/10.3389/fendo.2014.00029/full#B50), which is just where the Chiari would be. I've also read an article about how CFS flow is important to keeping our brain "clean", which means if it is contaminated by xenobiotics, (say maybe, heavy metals), they are less easily removed from the brain. My thoughts are that Chiari would reduce or prevent CFS flow leading to more xenobiotic assault on the brain, plus impact the brainstem causing issues like those referenced in the article resulting in a perfect storm for ASD. Then again, maybe I'm reaching too far to connect the dots?

Chiari is not something I would wish on anyone, child or adult. For some kids, the symptoms are very mild. For some, it causes a lot of pain and daily struggle. My son did have decompression surgery because it was warranted, but he suffered a lifelong, incurable injury (paralyzed vocal cords) from it.

There is always an underlying reason for behavior, and for some people chiari is part of the puzzle. Be sure to find a doctor who truly understands autism as well. There are some great neurosurgeons who have many patients with autism. My sons doc has made note of the increase of the co-existing conditions.

Definitely something people should rule out, if MRI is warranted.

oh goodness, I meant insight..and I do believe it's often the insight of mothers that eventually solve these medical mysteries.

I think you have good incite Benedetta!
This may be an acquired condition.
Most Chiari malformations occur during fetal development. Much less commonly, Chiari malformations can occur later in life. This can happen when an excessive amount of cerebrospinal fluid is drained away because of:

injury
infection
exposure to toxic substances
Types of Chiari Malformations

There are four types of Chiari malformations:

Type I. This is by far the most commonly observed type in children. In this type, the lower part of the cerebellum -- but not the brain stem -- extends into an opening at the base of the skull. The opening is called the foramen magnum. Normally, only the spinal cord passes through this opening.

Type I is the only type of Chiari malformation that can be acquired.

Beth's Mom,
There are a number of different types of Cerebral Folate Defiency Syndrome.This article has a pretty good list in table 1
http://www.ub.edu/geneticaclasses/brucormand/pdfs/66.pdf

The causes here are divided into three groups,based on when symtoms first appear.It kind of looks like the three groups are from most to least severe.I have been found to have Severe MTHFR Deficiency.This is in group two here.Most of the other diseases in this table are different forms of mito.Mitochondrial disease seems to be the link between CFD and Chiari1 in some cases.

There is a study out now,that proves what we have known all along.An autism diagnosis is a big obstacle in getting a medical diagnosis.

http://questioning-answers.blogspot.com/2014/02/autism-and-obstacles-to-medical-diagnosis-and-treatment.html



Sorry for the short notice but the Parliament of New South Wales (Australia’s largest state) is seeking public comment on a proposed law that could obstruct or perhaps criminalize the giving of friendly information that deviates from “accepted” medical practice. If any families would care to send their statement, I believe it would be included in the publication of the parliamentary committee. It can be sent online and must leave the sunny shores of America by 10.30 pm Thursday Feb 6 in order to meet the Feb 7 deadline Down Under. It can be as short as one sentence or as long as 10MB.
TERMS OF REFERENCE – That the Committee on the Health Care Complaints Commission inquire into and report on possible measures to address the promotion of unscientific health-related information or practices which may be detrimental to individual or public health. – The Inquiry will focus on individuals who are not recognised health practitioners…
The Committee will have particular regard to: -
. (a) - The publication and/or dissemination of false or misleading health-related information that may cause general community mistrust of, or anxiety toward, accepted medical practice;
. (b) - The publication and/or dissemination of information that encourages individuals or the public to unsafely refuse preventative health measures, medical treatments, or cures…[etc]
You would fill out the form online at:
https://www.parliament.nsw.gov.au/prod/web/submissions.nsf/Submission?OpenForm&ParentUNID=E3EF6973C152CB3ACA257C07000535C3&House=LA
Thank you.

Chiari malformations and Spinal Cord deformities are meaningfully related and I am very sure the incidence is significantly higher in people with ASD and their close relatives. I also believe the folic acid / MTHFR connection is the most likely explanation.

My 15 year old was FINALLY diagnosed with a spinal lipoma/tethered spinal cord (TCS) last year. He had multiple clear and obvious symptoms of TCS for years but it wasn't until he lost bladder control that a thoughtful neurologist suggested the possibility. For years his difficulties with bladder and bowel control, very unusual gait, extreme fatigue with exercise and weak core were dismissed as "his autism". I had never heard of TCS (although i did know about Chiaris and have several friends who's children have them) but when i began to investigate i saw that Ben had every symptom FOR YEARS!

Sadly, its likely that he also had progressed to a point of great discomfort ( which had just be come his norm) and had lost nerve function before it was diagnosed and operated on.

Because Ben is non-verbal and because we have been very proactive in seeking both mainstream and alternative treatments for all of his difficulties, we were seen as grasping at straws when we looked for explanations for his multiple medical issues.

I guess I should have just left him to become progressively more incontinent, immobile and eventually to begin to act out aggressively due to his back, leg and foot pain. Then he could be written off as both autistic and severely ID.

This medical malpractice committed against our kids, teens and adults with ASD cannot be allowed to continue.

I have (had) Chiari 1 and it was only diagnosed when I went through "trauma", a car accident. My neurologist explained it to me this way - symptoms do not appear until some form of trauma like a car accident or slipping on ice, but 1 / 1000 have Chiari (as of 2007). After the trauma, sacs of fluid built up in the center of my spinal chord which would cause nerve damage that would be irreversible and I'd end up paralyzed unless surgery was done to fix the Chiari malformation (which I was born with). I was rushed into surgery and within 6 hours of the surgery's end, my sacs were gone; nerve damage avoided. Other "diseases" I was diagnosed with since childhood also disappeared - accident prone, poor circulation, motion sickness. People with Chiari 1 who never experience trauma may never have symptoms until their 40s or much later and therefore may not require surgery to correct it. Others of us are "lucky" to catch it before more serious complications occur.

We initially believed that our daughter suffered from a Chiari as well. This is going back almost 7 years ago. After a couple of reports that came back as "unremarkable", I started looking at her scans. What I found was a marginal Chiari <5mm typically required for diagnosis. I also found a towering tentorium, severely beaked tectum and a whole lot of crowding of her cerebellum.

All of this eventually led to a unsatisfactory appointment at the Chiari Institute with a surgeon no longer employed there. Like Mary Beth, we remained convinced that there was something there. So after an impassioned plea to Dr. Bolognese at the Chiari Institute, we were seen again, but by him instead. We also made a trip to Baltimore to confirm a diagnosis of Ehlers-Danlos, all of which culminated in a diagnosis of occult tethered cord syndrome. After being de-tethered, our daughter's behaviors improved dramatically, likely due to the fact she was experiencing significantly less pain.

Moral of the story; don't assume that just because someone has a bunch of letters at the end of their name it means that they know what they are talking (or looking) at.

There is a lot of symptoms I see in my whole family - maybe not immediate but they are there.
Such as restless leg; my Mother-in-law as she got her flu shots year after year for 20 years had restless leg really bad.

The dilated pupils symptom
Many have reported that in a high mania state - bipolars have very dilated pupils.

If they check for strokes - would they take a picture of that area of the brain?

This doctor's understanding of the brain is amazing. He discusses neurological conditions, including chiari.

http://uprightdoctor.wordpress.com/

The syrinx or cyst as someone called it is a result of the Chiari 1 - which is usually formed when the Chiari goes left untreated.

Most research indicates that it is congenital

To date, I do not believe there is research indicating the prevalence of Chiari 1 in children on the spectrum.

I was well aware of Chiari and it being prevelent in autism so I had an MRI done on my son who has severe autism and stims. His neurologist is very good and agreed it should be ruled out. The results-no Chiari malformation at all. Not as lucky as Mary Beth.

Forgot to add....
http://www.chiariconnectioninternational.com/Hereditary_disorders%20_connective%20tissue.php

Many autism families have connective tissue disease, my daughter who has no autism has marfans like mixed connective tissue disease...affected her heart mostly, has a pigeon chest...etc...

Always always check for connective tissue disease in autism...erlos danlos etc...

I had read a little about Chiari malformations in autism.I see a lot of similiarities to the situation with Cerebral Folate Deficiency Syndrome.An inborn or inherited condition that can present as autism,developmental delays and seizures.One that has either only been discovered fairly recently,or the association with autism has only been made fairly recently.A condition most doctors would not look for in most kids diagnosed with just autism.One that needs specialized testing to find.One that most doctors will not look for.I know all too well how an autism diagnosis can prevent doctors from looking deeper into underlying causes.


From the Chiari & Syringomyelia Foundation

There appears to be an underserved population of children and adults with Chiari malformation and autism – the size of which is yet to be determined. Recent data suggests that a greater than expected overlap of findings in children diagnosed with Chiari Malformation and those diagnosed with Autism Spectrum of Disease (ASD).

Children with Chiari frequently have tendency to headaches, neck pain, speech and swallowing difficulties, sensori-motor disorders, gastro-esophageal reflux, disordered respiration and sleep apnea - the same findings that characterize ASD. ...

Unfortunately, patients once diagnosed with ASD, usually at 1 -3 years age , rarely undergo neurological assessment and MRI to look for other co-morbidities, such as Chiari Malformation. Therefore, an opportunity for diagnosis and treatment is potentially missed.

Like CFD,this something only a DAN or MAPS doctor will look for.

The International Chiari Association also links Chiari with autism and mitochondrial disease.

http://www.chiariassociation.org/for-chiarians/some-chiarians-also-have

A parent's story of Chiari and ASD,diagnosed in a seven year old girl.

http://www2.mhsi.us/patient-stories/chiari-malformation-our-daughters-journey/

If we listen to those who believe in neurodiversity,they would tell us we are destroying these children,by identifying these malformations,and doing any corrective surgery.

If this is as obvious as it seems to be, then why the h*ll hasn't this been an IACC topic of discussion and recommendation for research? Your son had this surgery how many years ago and no one in the medical community is screaming to connect the dots and find out more and help the other affected children? Disgraceful.

Have many friends who's children have this, and often they have lyme disease, look the two up, they are connected, congenital lyme can cause this....as well as vaccine injury in my opinion....have one friend who's child screams all the time in horrific pain...even after decompression surgery...it is awful that our kids are put in some kind of box or category, and clearly they deserve treatment, respect, and sympathy.
http://lymedisease.org/news/touchedbylyme/579.html
http://www.autismwars.com/?tag=chiari-malformation
Along side of this, my son has cerebellum atrophying..he is 33, severe autism...and this is the opposite yet just as debilitating condition no one speaks of in our population too....arrrgh.

Chiari 1 malformations are more common in ASD than you think. Since meeting Mary Beth over a decade ago there are been over two dozen more families. Surgery for these individuals has made a huge difference.

I truly wonder how many individuals with autism are walking around with a treatable Chiari 1?

A MRI and good doc knowing what they need to look for is what is needed.

The cyst in the spinal chord in the picture - is that part of the disease/injury too?

Wonder if this is a physical result of a brian injury/swelling and forcing the brain down in an area it does not belong?

Many persons with "MS" also have Chiari malformations or other brain/ blood flow problems.

My mother-in-law (now 85) discovered several years ago that she has Chiari 1. The doctors said that this is something she has had all of her life. She did not have any surgery and is doing very well except for her hearing has gone bad.

Chiari is more common in our ASD kids.
There seems to be a trend of it in daughters from dad's who were in Vietnam (agent orange/dioxin exposure). And then we go on to have ASD kids.
Dad: Vietnam. Me: Chiari (Several MTHFR, etc mutations). Son: Moderate-Severe Autism, Chiari

My son's Father and his Dad were also Army. That Grandpa was also in Vietnam.

My son also has Scoli and Spina Bifida Occulta --that was mild enough to not effect him, but it speaks to poor neural tube development. Autism is not f*cking mystery. And it is no gift.

This is an incredible legacy that they need to be investigating.

Jenny Webster
I rambled about this a bit here: http://www.autismwars.com/?p=611

Just how prevelant are "Chiari 1 malformations" in children diagnosed with autism? Does anyone know? Does anyone care to know?

Surely understanding how these malformations may affect the neurological development of children would be well worth the effort? No?

Indeed, would it be possible to do extensive "brain imaging or scanning" on children with autism and somehow fail to identify indications of Chalbi 1 malformations?

Just curious .. would indications of Chalbi 1 malformations have been readily apparent to "autism researchers who rely on brain tissue for insight into the neurological disease" .. such as .. Harvard University researchers .. who were entrusted with approximately 150 brains .. one third of whom were children diagnosed autistic .. only to lose their precious opportunity when the "fail safe" refrigeration system proved itself anything but "fail safe"?

According to the following article .. "Autism Speaks, the non-profit organization based in New York that leads the Autism Tissue Program".

Has Autism Speaks ever mentioned Chalbi 1 malformations?

http://tinyurl.com/7xqq4fx

"The freezer, a 2004 model from Fisher Scientific, comes with a built-in alarm that sounds when the temperature drops significantly, and a second independent monitor automatically calls five staff at the centre on their mobile phones in succession. “None of our devices were triggered,” says Benes. On 31 May, an investigator opened the freezer door to retrieve brains, and felt the shock of no frozen air. After staff at Autism Speaks, the non-profit organization based in New York that leads the Autism Tissue Program, alerted the families of donors, the Boston Globe covered the mishap.

“Every one of our freezers has emergency power in case the electricity fails, and we have CO2 tanks in each freezer to keep the space cool for about 24 hours if the refrigeration fails,” Paskevich says. But here, the refrigeration and two sensors went down at an odd time when many brains were stashed in a single, unlucky spot. “Would you think that everything would fail at once?” says Paskevich.


Bad luck I guess ...

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