Autism and Seizures - Will Gene Research Save the Day?
By Teresa Conrick
On Monday, 4/28/09 at 8:49 a.m. Central Time, I became a member of a group that I hoped I would never have to join, the "parent of an autistic child with seizures" group.
I was at my desk preparing for the day when the phone rang. It was Meg's teacher who spoke quietly as he said those words any parent would doubt, would hope was wrong -- he said, "Meg's having a seizure." My shocked response was ,"Oh no..are you sure?..she was just fine...?" But she was not fine now as he described a vivid picture of my sweet, 16-year-old, hunched over in her seat on the little yellow school bus, drool coming from her mouth and not responding to her name. I would find out later from the bus aide that before I had even received the call, Meg's eyes rolled back, the universal sign that this is a SEIZURE and has the ability to damage or kill its victim. To describe all that happened from that moment forward is a blur of actions and feelings: fear - driving - crying - bargaining - fear - anger - questioning - fear - hoping.....
We called the ambulance when I finally made it to her as Megan's eyes and body were still not her own. She looked scared, confused and unable to move well. It was all a bad dream and soon I would wake up to Meg laughing and running to me. But I never woke up. Our four hour odyssey in the ER included blood work, a cat scan, EKG, and an anti-nausea IV. There was nothing abnormal in the results -- nothing that would explain why a 16-year-old with an autism diagnosis, who had never had a seizure, would have one now, at this age, and with such intensity.
The ER nurses were great and didn't question my concerns with red dye #40 in their popsicles or sugar-free, Nutrasweet treats that they gave to kids like Megan. It was a nice idea but the lack of knowledge about basic neuro-chemical consequences seemed absurd in the present surroundings.
The doctor on duty was young and a bit arrogant. He kept asking if she had a fever or infection and if her behavior was “as good as it gets." I attempted to explain to him that Megan rarely had fevers and that her immune system did not work properly. He looked at me like I had broken the unspoken ER rule of not kissing his feet and saying, "YES", she did have a fever and how brilliant he was for figuring it out.
Instead I explained that she was nonverbal and her stimming on the rubber bands in her hands was not abnormal for her. That was his signal to say, "goodbye and good-luck," as he handed me a prescription for an anti-seizure medication with a referral to a neurologist and then fled for the safety of the nurses' station. It was eerily familiar.
The drive home gave me some time to digest this new incident and its meaning to our understanding of Megan and her autism. Her diagnosis of autism was over a decade ago and the word on the report then was "Idiopathic", meaning, "of unknown cause." I peeked at the discharge papers from the ER and sure enough, the "I" word was there, too. In actuality, these doctors did not want to search for Meg. They did not want to delve into the "why" she has so many abnormal labs of metals, bacteria, and viruses or the myriad effects they produced. They also did not seem to care or wonder if something in puberty is sparking a reaction and causing sick children to become sicker, especially seizures.
I have often looked to the past to explain the present. In 1943, Dr. Leo Kanner wrote his historical paper, "Autistic Disturbance of Affective Contact", in which he described
"a number of children whose condition differs so markedly and uniquely from anything reported so far." One of those children, Elaine, reminds me of Megan. They both were born healthy and walked before 12 months. Speech and language issues began and deafness was suspected but then ruled out. Both had fears of loud noises and ran when the vacuum cleaner came out of the closet, covering their ears. Meg's is so bad still that she chooses construction headphones instead of an Ipod. Both girls had normal EEGs in their younger years.
In his follow-up paper on these children in 1971, Elaine had sadly, spent most of her life thus far in state hospitals. What stood out is this statement by Kanner, "She has epileptic seizures occasionally of grand mal type and is receiving antiepileptics and tranquilizers." That sounds familiar - not having seizures as a child and then developing them post-puberty. Why has no large, ivy-covered institution or large autism organization investigated this? It has become an increasing incidence that children with autism are developing seizures. How is it possible that the medical symptoms observed in children of the 1930's are still occurring today, yet major medical organizations and federal health agencies are not examining them, nor are they examining the actual children in the trenches of the autism epidemic?
Why is Dr. Paul Offit and his newly formed autism organization not looking into the issue of the immune system, fevers, and seizures in autism especially since he is Chief of Infectious Diseases at Children’s Hospital of Philadelphia? Why is he and many others hunting for a gene(s) (HERE) to blame for this epidemic of cases? For years the search has been empty yet that theme continues. Why is he saying,” 'The natural history of mild to moderate autism is that it does get better over time. You're worse between 2 and 5, and you tend to get better between 5 and 10. You mature, and you get better.” Developing seizures as a teen or older is not getting better. Is it because it will avoid the vaccine issue, provide money for marketing prescription medications or worse, a "screening" tool? Many of the children have lessening of their "autism" symptoms as they develop a fever. Why isn't Dr. Offit exploring why this is as it is part of the bacteria-virus-metal (mercury & aluminum)-infection-inflammation-gut-brain issues that many of the children have? Why does my daughter rarely run a fever and could this dysfunctional suppression of fevers cause seizures? Where do mitochondria issues figure into all of this?
I believe that the warning signs in the children, observable on labs, in blood, urine, and stool, represent the suspect in this man-made illness, and Dr. Offit has not investigated why as it brings us all back to the scene of the crime -- vaccines. Fortunately, history also shows us that often times a suspect protests too much and attempts made to obstruct the solving of the crime often indicate that the suspect is no longer a suspect, but a guilty party.
Teresa Conrick has two beautiful daughters. When she is not teaching, she is researching the biomedical implications of autism, both past and present.
oh and another one linking herpesviruses in the brain, causing glutamate exitotoxicity and epilepsy
http://www.psychiatrictimes.com/display/article/10168/57456
Posted by: Natasa | May 07, 2009 at 11:10 AM
this may be of interest and relevance:
2004: Wu Hung-Ming et al
Valacyclovir treatment ameliorates the persistently increased pentylenetetrazol-induced seizure susceptibility in mice with herpes simplex virus type 1 infection.
Experimental neurology 2004;189(1):66-77.
Herpes simplex virus type 1 (HSV-1) is an important pathogen related to epilepsy. We have shown previously that corneal inoculation of mice with HSV-1 causes acute spontaneous behavioral and electrophysiological seizures and increases hippocampal excitability and kainite-induced seizure susceptibility. In this study, we aimed to determine whether early-life HSV-1 infection in mice might cause short- and long-term enhanced susceptibility to pentylenetetrazol (PTZ)-induced seizures and to evaluate whether early antiviral drug therapy was effectively ameliorating this deficit. Seizure threshold was calculated by the latency of onset of the myoclonic jerk, generalized clonus, and maximal tonic-clonic convulsion. We demonstrate that the localization of viral antigens was predominantly within the bilateral temporal areas (amygdala, piriform, and entorhinal cortex) of HSV-1-infected mice. We also present evidence that mice of all HSV-1-infected groups had a shorter latency and higher severity to PTZ-induced seizures than in age-matched, mock-infected controls. Treatment of HSV-1-infected mice with valacyclovir, a potent inhibitor of HSV-1 replication, produced a dose-dependent decrease in the signs of neurological deficits, pathological damages, and PTZ-induced seizure severity. Our results are consistent with the hypothesis that early-life HSV-1 infection leads to persistent enhancement of neuronal excitability in limbic circuits, which could result in an overall increased propensity to induce seizures later in life. Additionally, prompt optimal antiviral therapy effectively decreases seizure susceptibility in HSV-1-infected mice by limiting the level of viral replication and inflammatory response induced by virus. The present study provides not only experimental evidence, but also a new therapeutic strategy in HSV-1-associated human epilepsy.
the following paper discusses reactivation of latent hsv-1 by female sex hormones:
http://www.jimmunol.org/cgi/content/full/181/2/969
Posted by: Natasa | May 07, 2009 at 08:34 AM
Finally, someone has the guts to stand up and criticize and demand an explanation.CDC r u listening? I am not alone, finally, I had the same theories as you did, My son had the same type of seizures at 10 months after having been immunized with 3 shots. On Oct. 5,1996, My son had a fever spike from no where of 105. I sat in the Hospital in Atlanta, Ga., from 11:00pm to 6:00am, with a battery of test including CBC, Lumbar Puncture-3times not being able to be in the room were these precedures were done. So I agree with you all these injections need to be reevaluated and be reformulated. Pharmacuetical companies make billions on this and would stand to lose all of that. I tell you no one wants to admit they have not done their research. My son has made some recovery as a result of a lot of intervention,prayer and therapy. He is 13, going through puberty,which is a challenge. Maybe some day we can make these companies be held accountable, I pray every day for the kids that have to endure these challenges. I too, now am concerned for the kids that are entering puberty, it is said that febrile seizures return due to the level of hormones being high. My son is a gentle and kind soul that has made me see life in a different way. If nothing else, this teaches parents to be on guard for the BS the CDC and all those involved have done to cover up the real truth. Chemicals like thimerosal, aluminum, and mercury need to be removed. CDC R U Listening to us. If you had to compensate every child that you have messed up, would you be so quickly to introduce yet another vaccine? QUDOS to you girlfriend, I am behind you and will pray for you and your daughter.
Posted by: Mary Miller | May 06, 2009 at 06:39 PM
Mrs Conrick: Thanks for sharing what the neurologist from Chicago said to you. THERE are such things as ALL DAY EEGS? There are such things as FOUR HOUR EEGS? My son barely got 30 minutes of EEG time all 7 times he had his done. If he had had a four hour on his fourth EEG it might have shown something and I might not have had to spend all of JANUARY and FEB in 2000. walking the frozen fields at night to calm him down and keep him from having seizures. Oh well, I am blessed anyway. My son is now 22. Guess what he is doing now! He is taking a writing class in college and he is up in our other office right now,writing his research paper about diets for epileptics,so far he is between the grades B and C. You have some dark times coming your way, different medicines and the up coming EEG. You will get through it. They drugged my son and caused him to sleep during a couple of his EEGs- might drug Meg to make her sleep too, but maybe if you can get through this in a couple of years (7 years for me) believe me- life is good right now!
Posted by: Benedetta Stilwell | May 06, 2009 at 04:11 PM
Teresa, here is a link for the nutritional approach to seizures.
http://drhorinouchi.tripod.com/id54.html
Taurine and magnesium were very helpful for my son.
Posted by: Gayatri | May 06, 2009 at 12:29 AM
Thanks Dr. Hardy for reading this blog and investigating "why" our children are having these seizures.
I just got off the phone with a neurologist at a prestigious hospital here in Chicago. I had left him a message to call me as he was at the big Neurology conference last week. I really appreciated him calling but the longer I stayed on the phone, the more I wanted to hang up.
His idea as he heard about Meg-" she's mentally retarded and severly autistic so she will have more seizures as 60% have abnormal EEG's and of that, 30% will go on to have seizures/epilepsy."
I asked him why Megan, who has never had a seizure and is now 16, would have one. "We don't know why but we do know that these kids need to be followed by a neurologist and get on medication."
I asked him how they would do the EEG on Megan as she is so impared and nonverbal. "With only 1 tomic-clonic seizure, we don't need to do a 24 hour EEG but a 4 hour should do and if she has never had an MRI that would be recommended too."
Then I asked him if they ever do any alternative treatments, such as high vitamin B or diet -"We do but not with these kids"......
He then told me another hospital here has an autism neurology specialty department, and I might be better there.
So, nice of him to call but not very encouraging information.
Posted by: Teresa Conrick | May 05, 2009 at 06:37 PM
To michael framson-
Hello. You asked "what possibilities for treatment are you considering now?"
I'm not sure if your child has had seizure issues and your experiences with neurologists has been negative but it sounds like that may be true, like others here too.
I don't want to get into a treatment plan but let me just say that these are factors that are mulling around in my head so far:
-how to do the EEG? In a hospital with Meg freaking out or in the fanny pack outpatient with Meg possibly pulling out the wires? So far, none of the neurology office/nurses I have called will tell me and they say the doctor has to decide...
-medications: after 1 seizure? wait for the EEG which will be June or later as no one can take her until at least June for the office visit? wait and see if this was a fluke and do not medicate unless there is another incident?
-medications- side effects vs alternative treatments? (hormones have been in place since onset of puberty 1.5 years ago but, physically, there has been a tremendous surge in past months. can hormones alone do this or in tandem with another chemical, another X factor? will looking at levels determine anything and can adjusting those levels help (low dose compounded, individualized pill?)
-MRI- will they want one? is it worth doing with a nonverbal, larger than me, teen?
-possible culprits to the seizure:
-hormones? soy lecithin? - (in ice cream) as she had this and googling showed it is a possibility. high levels of histamines? (spring is here in full force)
So looking at hormones, diet, any new supplements, environmental exposure -pesticides(there was a thought that it was something at school as another boy had a seizure there the week or so prior but he has a history of seizures and another teen girl had one about a month prior but not real concrete evidence- note though, it is the older kids who are having them)
Any others I may have missed? Thanks again for all this helpful feedback. It is a terrible situation but the support from so many helpful people is very appreciated. Beng considered a heretic for questioning the medical establishment is probably a top ten compliment for me --thanks!
Posted by: Teresa Conrick | May 05, 2009 at 05:31 PM
The adverse response to Lamictal suggests a possible functional folic acid deficiency. I'll be speaking about this in Chicago in several weeks.
Posted by: Paul Millard Hardy, M.D. | May 05, 2009 at 04:12 PM
Teresa, What a kick in the stomach to get this news at this point in time.
You asked "why" about 10 times which makes you a "heretic" in the eyes of conventional medicine who still regard seizures as "the problem" as opposed to the "symptom" of the problem. If what was done to our kids, were done to us, we would likely have the underlying problems which might produce seizures in us as well.
Given that the seizures just showed up now, means there was probably a shift in something. Something slipped out of balance that was previously in balance. Now the search for a practitioner who can recognize that shift and treat Megan as holistically as possible.
We may not get the "why's" answered anytime soon, because it may indeed criminally incriminate a medical system flawed to its core.
So, Teresa, what possibilities for treatment are you considering now?
As a whole, I found neurologists just part of the problem and not the solution.
Posted by: michael framson | May 05, 2009 at 04:03 PM
I agree with Jenny- Seizures must be increasing in non autistic kids too. I believe that this is an indication that many more than the fully autistic are being harmed by mercury. In 41 years in India I never heard of a child having seizures, aside from febrile seizures in the very young. This past year, suddenly I have heard of 3- none are autistic. All have sources of mercury. One is a teenage girl who has an autistic brother, but the mom still does not accept that mercury can be the cause of autism, so I presume they went right on eating lots of fish. A second was a boy born after the new pediatric schedule was introduced with many mercury vaccines and who lived in a terrible location- just next to a main road and not far from two power stations (coal burning).The third puzzled me because the mom had not been a believer in vaccines- so where could mercury have come from? Turned out the mother is a great believer in Tibetan medicine and Tibetans, like the Chinese put mercury in many medicines. And I know that there was a period of 3-4 years when this boy was young that the mother thought that something was wrong with his health- and I assume that he must have been given Tibetan medicine at that time, as that is what she prefers above all else. I do realise that this is just a theory as of now, but lets watch and see if we are on to something.
Posted by: Cherry Sperlin Misra | May 05, 2009 at 03:48 PM
"Lamictal made him less verbal and very stimmy and OCD."
Oh crap.
Posted by: seizurama | May 05, 2009 at 01:45 PM
Sending prayers your way. FWIW, when I was 16 I had a seizure, did the ER, EEG, etc. It was labeled as a "single incident seizure" and never explained. They put me on Tegretol for a year or two. I never have had another one. But it does make me worry for my own children when they approach puberty.
Posted by: Garbo | May 05, 2009 at 12:23 PM
Theresa,
Thoughts and prayers with you and Meg. Much love to you both.
Posted by: Julie Obradovic | May 05, 2009 at 10:16 AM
Teresa
There was a seizure workshop at the DAN conference. Drs. Bradstreet and Rossignol are focusing on the abnormal seizure activity going on in now what is estimated at being in 60-70% of the kids with autism. They had some incredible information and I imagine it will be further discussed at the Chicago Autism One conference, as Dr. Rossignol has joined the seizure think tank.
My son had two grand mals when he was 2 years old and we found abnormal activity going on through a 24 hour video EEG. So we have been treating for years!! The activity is still there on his EEG though it is quieting down.
The seizures are now coming to the forefront of autism and I think it has been long overdue. I hope you can make it to Chicago. I hope we all gain more insight into autism.
Again all people!! Autism is NOT a mental issue...it is a disease which causes seizures, gut issues and immunity problems. Don't worry about Dr. Offit. His "theory" will soon be lost in some distant dusty magazine at he bottom of a garbage dump.
I pray for you and your daughter Meg.
Thank you for sharing.
Jacey Capurso
Posted by: Jacey | May 05, 2009 at 04:44 AM
Thank you for sharing your story Teresa and I am so sorry for Meg and you. This is probably typical behavior for the ER, even with recurrent seizures-I am sorry to say. I pray that Meg's system will overcome this and that she never have another one.
Posted by: Theresa Cedillo | May 05, 2009 at 04:33 AM
I'm sorry you are now having to deal with seizures as well. However, I don't think the reaction you got in the ER was entirely due to her autism. The reaction you got is pretty typical for a patient coming in with first-time seizures - yes, even without autism. Most seizures are classified as idiopathic.
Neurologists are trained to look at concrete evidence - EEG results, MRI results, etc. If you can't "prove it" with a test...then there is no guarantee that the seizures exist - no matter what observers see or the patient feels. Look on any epilepsy board; countless patients will talk of the exasperating challenge of 'proving' their seizures to the neurologists.
Posted by: Vicki Hill | May 04, 2009 at 10:26 PM
Sorry Teresa,
That moment happened to me late August of 2006.
--And thru my son's Diagnoses I found out that I too have the same type of Epilepsy... JME. But my son has now developed temporal lobe seizures... We both had absence seizure at one point.
He has grand mals and I have myoclonic seizures.
We both have Chiari Malformations...
etc...
Lamictal made him less verbal and very stimmy and OCD. Depakote caused hives. Klonopin made him aggressive. Topamax made him violent. We are now back on a different form of Depakote that he is tolerating... no hives. But he is still violent. My option at this point is to go back to lamictal... and watch his verbal skills go back away, and watch the OCD return.
--and now I want to be violent, b/c I am sick and tired of doctors and scientist who --apparently, cannot read AND were never really good at "Connect the Dots"
I am fed up.
I also think that seizures are on the rise in non-autistic populations as well.
Posted by: Jenny Webster | May 04, 2009 at 10:22 PM
Maria,
Thanks so much for posting. Your story is heartbreaking as were so many others today. This is one paradigm that has got to change! The pain and lack of answers has gone on too long.
Also, your statement here-
"There is something different about the seizures that children with autism have versus children with typical epilepsy. I know because I have read every medical book on seizures and have yet to find any profile that fits my son."...
You give such a passionate description and I follow your plea that we need help in understanding this.
thanks again.
Teresa
Posted by: Teresa Conrick | May 04, 2009 at 09:14 PM
Teresa,
Thank you for writing about Meg. I have always been glad to read your posts and other helpful information. I hope she is doing better.
My husband and I have gone through hell over the last nearly 5 years with our beautiful true warrior boy. He had his first "idiopathic" seizure at nearly 8 months. From that moment forward we would learn things about the medical field that changed our thinking and nearly every aspect of our life. From the beginning, actually almost immediately, we learned that it would be a battle to get answers for our son. As new parents the first thing we asked the neurologist at this top 3 childrens hospital was whether his seizure could be vaccine related. I will never forget the look of disgust on this neuros face then I asked. It was almost like I had committed a crime! Immediately he scolded- "NO!" I then asked if we should as a precaution not vaccinate for now. Now he had a look of HORROR and exclaimed "NO The risk of the disease outweighs and other risks from the vaccine." (Sound familiar? You would think they would try to get a little more original) With our hospital stay and our new enlightened minds into our son's we decided not to vaccinate further "for now".
From the beginning I would scour the medical lab reports and other exams to find a cause for my son's seizures. Every turn was a dead end. Absolutely no doctor out of the 15 I saw during those first 3 months bothered to scratch beneath the surface. I would hand over articles and all kinds of information and got nothing. WHY? Not one of these high priced physicians CARED to answer. Plainly, they just didn't try or want to try. As first time parents we were horrified and scared. We barely left the house with my son as we were terrified of another seizure. Our lives changed completely. We questioned everything my son ate or breathed in.
The medicines he was prescribed each made him worse. I finally took him off these meds and he became better for a time. I was terrified at what these *new* drugs would do to his little developing brain. Each time I would ask about side effects (and increase in seizures and different seizure types)the doctors would have nothing but beautiful things to report about the medicines. I am still waiting for a seizure med to actually work on my son.
Teresa, we experienced the same ER TRAUMA! Isn't it fascinating that it was not until 3 years later a neuro suggested having my son tested for Celiac??? Thankfully I had already taken care of that test and it was thankfully negative. The discrimination and shear disregard children with autism are treated with is nothing short of criminal. They all turn a blind eye to symptoms and causes. I will never forget my long journals of seizure patterns that I would bring to the neuros- They would never even glance at them.
There is something different about the seizures that children with autism have versus children with typical epilepsy. I know because I have read every medical book on seizures and have yet to find any profile that fits my son. I worry every day for my son's life and have no medical profession willing to help. All they want to do is drug my son to oblivion. I have thought of attending the Chicago conference but worry these docs have nothing new to report. Dealing with seizure meds and neuros is like living the vaccine autism thing over and over again.
I am begging neurologist/Doc who can help to please do something to help our children. I ask not only for myself but for the many, many other children with autism and seizures I personally know who have experienced that same. Where is the desire? Why aren't these guys searching and scouring the earth for an answer? Any other disease of a child would bring telethons and outcry.
Maria
Posted by: Maria | May 04, 2009 at 07:33 PM
With the onset of puberty, processes in the brain are in motion, which make the brain more vulnerable to mercury and viruses and bacteria. Many conditions worsen at the same time. Why would anybody not call autism NEURODEGENERATIVE is beyond me.
Here from Autism Help For you website...
It is most interesting to note that in an article entitled Aura Continua (that means "ongoing aura" - Note: the "aura" is considered part of the seizure), that the author, Heinz Gregor Wieser (Date of submission: May 4, 2001 Date of Update: September 17, 2003 Medline SEARCH DATE: September 17, 2003, posted at: http://www.epilepsy.org/ctf/aura_continua.html ) stated in his Table 3 that those who experienced this type of "ongoing epilepsy" included persons with schizophrenia and "schizophrenia-like" psychosis. Note what is stated about this condition of "ongoing epilepsy" known as "aura continua" - I quote:
"Aura continua is an intriguing condition of epileptic nature. The reason long-lasting seizure discharges remain restricted to a circumscribed area of the brain is not completely understood. However, new insights emerge from animal models of epilepsy and, in particular, from studies of network disturbances seen in cortical dysgenesis. Aura continua has been observed with a variety of clinical signs and symptoms that depend on the localization of the epileptic discharge and reflect the functional organization of the brain. In this clinical summary, Heinz-Gregor Wieser, MD, of the Universitatssipital in Zurich, Switzerland, reviews the most fascinating phenomena described within the context of aura continua. These phenomena include ictal psychic phenomena with perceptual hallucinations, mnemonic, emotional, and other rare misperceptions, such as depersonalization, distortion of body image, and heautoscopy..." [end of quote, Heinz Gregor Wieser, Aura Continua, http://www.epilepsy.org/ctf/aura_continua.html ].
Other things experienced by persons with "aura continua" or "ongoing epilepsy" included things like... again I quote:
"Perceptual hallucinations - Visual - Auditory - Olfactory - Gustatory • Mnemonic - Deja vu - Jamais vu - Memory recall - Memory gaps/amnesia - Emotional - Fear - Sadness - Pleasure - Sexual emotion - Emotional distress - Anger - Change in reality - Depersonalization - Feeling of other presence - heautoscopy - Forced thinking - Distortion of body image..." [end of quote, Heinz Gregor Wieser, Aura Continua, http://www.epilepsy.org/ctf/aura_continua.html].
Scary stuff.
there are antidotes, but I refrain with the obvious. Catch this before puberty! Get the MRI and SPECT SCAN (functional imaging), find out if there is seizure foci, and treat it, but treat it with no MSG in the diet, gluten, casein, corn or soy, treat problems with cholesterol if low, treat infections like lyme, bartonella, viruses etc. This may stave off the inevitable seizure disorders kids get at this time. rTMS is also a solution...
Posted by: Kathy Blanco | May 04, 2009 at 04:27 PM
Thanks for sharing your story - - I got the same call from school back in 2001 and met my son at the emergency room. The neurologist was completely baffled and we tried several anti-convulsants which did not positively affect his EEG. My neurologist did authorize high dose IV/IG and we went thru four treatments - - I thought it helped, though not significantly, and again J.W.'s EEG was the same afterward (actually slightly more "abnormal", though the doctor did not diagnose him with epilepsy). We discontinued the meds and he was seizure free until Mar 05 when my husband found him convulsing in his bed. This time, with the onset of puberty, the grand mals kept coming, so we started the trial and error roller coaster of the latest seizure meds, most with awful side effects and no real improvement. We settled on Trileptal and added lamictal. Getting parasites under control and continuing with chelation has helped more than the meds, though chelation seems to spike seizure activity (two steps forward and one step back). I, too, have been amazed at the lack of investigation/questioning by the medical community as to why this has happened to my son. Over the years I have become jaded and do not expect much - - I consider it a success if my doctor listens and answers my questions without being condescending. I have unfortunately not been able to find a neurologist who does anything besides try the next med. If you read any of the inserts on the anticonvulsants, there is a statement to the effect that the reason the medication works is unknown. I'm glad the meds are keeping my son's grand mals at bay, but I will continue to pursue the root cause, to include inflammation, heavy metals, gut/brain immunology and mito dysfunction (unfortunately without the help of a neurologist).
Posted by: mlinn | May 04, 2009 at 02:32 PM
Thank you all for your very supportive posts. Some have emailed me directly, too and that is fine.
My email is -
[email protected]
Just have to put a plug in for Autism One and the seizure symposium. I will hopefully see many of you there and thanks Ed and Terri and everyone who is making this possible as the timing could not have been better and more needed.
http://www.autismone.org/?goto=chicago&page=tembenisThinktank
SUNDAY PRESENTATION SCHEDULE:
8:00 am Paul Hardy, MD LaSalle A/B
8:40 am Seyyed Hossein Fatemi, MD, PhD LaSalle A/B
9:00 am Manuel Casanova, MD LaSalle C
9:20 am Allan Sosin, MD LaSalle A/B
10:30 am Richard Frye, MD, PhD LaSalle A/B
11:10 am Tapan Audhya, PhD LaSalle A/B
11:50 am Derrick MacFabe, MD LaSalle A/B
1:15 pm Rob Coben, PhD LaSalle A/B
1:45 pm Jeffrey Lewine, PhD LaSalle A/B
2:15 pm Panel Q&A LaSalle A/B
Abstracts for Sunday presentations:
Tapan Audhya, PhD
Unprovoked Seizures in Autistic Individuals
Evidence of both clinical and subclinical seizures has been reported in children with autism spectrum disorder (ASD). Approximately 20-30% of autistic children have a seizures disorder. Of course, this estimate does not include children who initiate seizures when proved by frustration, fear, sudden shock, high fever, anger, or exposed to high pressure oxygen chamber.
In our experience, many ASD children with untreated PKU, cerebral palsy, neuroinflammation, or mental retardation have a higher risk of seizures; also, children who display sudden repetitive movements, swaying, language regression (particularly after 2-4 years of age), etc., often have experienced seizures. On the other hand, many seizure-free autistic individuals begin to have seizures during puberty. Many autism candidate genes that have been associated with autism risk encode for proteins that regulate excitation/inhibition within CNS. These include nicotinic acetylcholine receptors, GABA receptors, glutamate receptors, etc. An altered GABA-A receptor, found very often in autistic individuals, has been proposed as a major underlying cause of seizures. Because GABA inhibits neurons from firing, and seizures are caused by inappropriate or unregulated firing of nerve cells, increasing or decreasing GABA activity through its receptors can cause the system to stabilize or destabilize and thus control seizures. In the presentation we will discuss some of the information that we have developed in our laboratory regarding seizures in autistic individuals.
Manuel Casanova, MD
Sensory Problems in Autism: Origins and Possible Intervention
Minicolumns are basic architectonic and physiological elements identified in all regions of the neocortex and in all mammalian species thus far evaluated. The minicolumnar circuit is an evolutionarily and ontogenetically conserved template adapted in the various cortical areas according to their specific developmental and functional requirements. The minicolumnar core comprises radially oriented arrays of pyramidal projection neurons (pyramidal cell arrays). At the core and periphery of the minicolumn combinations of Gamma Amino Butyric Acid (GABA) interneurons provide for a diversity of signaling properties that serve to dynamically modulate pyramidal cell inputs and outputs that perform area and task-specific information processing needs. Recently, computer image analysis studies by our group have reported abnormalities in the pyramidal cell arrays
(minicolumns) of autistic patients. These studies have shown reduced horizontal spacing between pyramidal cell arrays and diminished neuropil space at the periphery of the minicolumn. This observation, a deficit of columnar surround inhibition, has now been corroborated by studies probing tactile resolution and habituation to stimuli in autism. Lack of minicolumnar surround inhibition provides for signal amplification and an overall increase in noise. The resultant inability to differentially process simultaneous sources of information provides for a deficit in selective attention, which in autism permeates all sensory modalities. In this model, a reduction in the peripheral neuropil space would result in smaller minicolumns which would coalesce into discrete, isolated islands of coordinated excitatory activity. These islands could serve as potential ictal (seizure) foci.
Moreover, their autonomous activity would hinder the binding of associated cortical areas, arguably promoting focus on particulars as opposed to general features.
Inhibitory cell elements at the periphery of the minicolumn have a bitufted axonal system that span several layers perpendicular to the pial surface.
Our basic hypothesis is that the geometrically exact orientation of these cells and their location at the periphery of the minicolumn (inhibitory
surround) makes them the appropriate candidate for induction to magnetic field applied parallel to the cortex. The principle of electromagnetic induction proposes that a changing magnetic field induces the flow of electric current in a nearby conductor. Maximal induction is proposed for conductors at 90 degrees to the magnetic field. Preliminary results using slow Transcranial Magnetic Stimulation over the dorsolateral prefrontal cortex (DLPFC) of autistic patients (an attempt to strengthen the inhibitory surround of minicolumns) have shown promising results. Due to the connectivity of this brain region we expect the intervention to generalize to other cortical areas.
Rob Coben, PhD
EEG Assessment and Treatment of Seizure activity in ASD
Recent analyses have estimated the prevalence of seizure disorders in autistic series at anywhere from 20 to 46%. Paroxysmal discharges occur in an even higher proportion of autistic children. The electroencephalogram has been used for decades to detect seizures and similar brain activity. This has chiefly been done via analysis of EEG raw wave form analysis. Newer quantitative techniques have emerged including seizure/spike detection algorithms, topographical mapping, independent components analysis, source localization, and coherence assessment. With such techniques, children with autism can be assessed and the underlying nature and sources of their seizure activity analyzed. Once the underlying neurophysiological mechanisms are understood, effective treatment strategies are possible. Recent research from our clinic has demonstrated how connectivity-guided EEG biofeedback can be used to significantly reduce autistic symptoms. A series of cases will be presented demonstrating how this treatment can be used to treat and decrease seizure frequency and intensity with resulting improvements in functioning.
Seyyed Hossein Fatemi, MD, PhD
Gaba A and Gaba B receptor abnormalities in autism
Autism is a severe neurodevelopmental disorder characterized by social deficits, language abnormalities and repetitive behavior. A limited number of reports have demonstrated abnormalities involving the glutamate and GABAergic systems in brain, blood, and platelets of subjects with autism.
Gamma-aminobutyric acid (GABA) is the main inhibitory neurotransmitter in the brain. There are three classes of GABA receptors: GABAA, GABAB, and GABAC. GABAA receptors are ligand-gated ion channels responsible for mediation of fast inhibitory action of GABA in the brain. GABAB receptors are present in the thalamus, cerebellum, hippocampus, cerebral cortex, and interpenduncular nucleus and are coupled via G proteins to membrane K+ and Ca++ channels and to adenylate cyclase in humans. Our laboratory has performed a comprehensive investigation of GABAA and GABAB receptor subunit expression in cerebellum, parietal cortex (Brodmann?s Area 40 (BA40)), and superior frontal cortex (BA9) in brains of subjects with autism vs. matched controls via qRT-PCR and western blotting techniques. We have found widespread changes in GABA receptor expression in brains of subjects with autism. In particular, two receptor subunits demonstrated a concordance between mRNA and protein in cerebellum (GABRA1, GABBR2) and three demonstrated concordance in BA9 (GABRA4, GABRA5, GABRB1). Importantly, each of these 5 subunits have previously been demonstrated to be associated with autism. We suggest widespread GABAergic dysfunction in the brains of subjects with autism.
Richard Frye, MD, PhD
Subclinical epileptiform discharges and functional reorganization in atypical cognitive development
Subclinical epileptiform discharges have been suggested to be associated with abnormalities in cognitive development. We retrospectively reviewed the charts of a series of children who manifest atypical cognitive development and subclinical epileptiform discharges on electroencephalogram. We found that subclinical epileptiform discharges were associated with a pattern of developmental cognitive symptoms, including symptoms of language delay, attention deficit and autism. Subtle symptoms of seizures were often not detected even with a detailed history. Most children responded well to antiepileptic medication. Using magnetoencephalography we found a distinct pattern of functional reorganization associated with the development of good language function. Overall, this study suggests that children with developmental cognitive disorders that do not respond to behavioral and educational therapy may benefit from screening with an electroencephalogram.
Such children may benefit from a trial of antiepileptic mediation if subclinical discharges are detected.
Paul Hardy, MD
Epilepsy in Autism: An Overview
This presentation will discuss Dr. Hardy's extensive experience in evaluating and treating the unique issues of epilepsy in persons with autism. The general classification of epilepsy will be presented with a discussion of specific syndromes associated with autism, followed by the unique epidemiologic issues. The challenges of diagnosis will be reviewed, especially in children and in people who are nonverbal. Finally, the various treatments for epilepsy will be discussed beginning with dietary and nutriceutical treatments that should serve as the foundation for more standard pharmaceutical treatments. The role of the "therapeutic trial" will also be a focus of discussion.
Jeffrey Lewine, PhD
Epileptiform Activity in the Autistic Brain: Cause, Effect, or Co-Morbidity
The observation that almost 30% of children with autism develop clinical seizures by the time that they reach adolescence is one of the fundamental observations in support of the biological basis of autism. Yet, the relationships between clinical seizures, "sub-clinical" epileptiform activity, and autism are poorly understood. At present it is uncertain if epileptiform activity is simply co-morbid with autism, a consequence of the underlying neurobiological abnormalities of autism, or a possible cause of at least some specific features of autism. In this presentation I will explore the hypothesis that, in many cases, the autistic brain is hyper-excitable and prone to epileptiform discharges because of malfunctions in inhibitory GABA systems and/or excitatory glutamine systems. Through normal mechanisms of cortical plasticity and learning, these discharges become self-reinforcing and lead to epileptogenic neural circuits that are no longer able to support normal function and which, through axonal connections, disrupt normal processing in other networks. In some cases, the critically disruptive epileptiform activity may be triggered by other factors including abnormal signaling pathways, abnormal immunological responses, or environmental toxins. The presence of epileptiform activity is a common thread linking almost all of the genetic conditions associated with autism [e.g., tuberous sclerosis complex, Fragile-X, etc.] and also a common finding in conditions of environmental toxicity [e.g., mercury poisoning].
Using functional brain imaging data from magnetoencephalography [a noninvasive method for recording the magnetic signals generated by the brain's electrical activity], I will provide evidence that auditory and language cortices are especially prone to the development of epileptogenic circuits in autism, and that this is specifically related to language dysfunction. Finally, I will explore how suppression of epileptiform activity in the autistic brain can lead to improvements in language skills and a reduction of autistic features.
Derrick MacFabe, MD
Enteric and dietary short chain fatty acids - Possible triggers of autism-associated epilepsy and movement disorder
Clinical observations suggest that gut and dietary factors transiently worsen, and in some cases appear to improve, symptoms in autism spectrum disorders (ASDs). Recent clinical evidence suggests there is a high association of seizure disorder and abnormal electroencephalographic changes in this difficult to examine population. Furthermore, tics and repetitive behaviors, core features of persons with ASDs, resemble behaviors found in movement disorders. Can a common factor link these disparate findings in autism? This lecture outlines basic science and clinical evidence that short chain fatty acids, present in diet and produced by opportunistic gut bacterial infections, may be key triggers in ASD associated seizure and movement disorder. It discusses that these compounds have widespread effects on behavior, brain electrical activity, immune system and metabolism, which may have major implications in ASD diagnosis, cause and treatment.
Allan Sosin, MD
Masking for Seizures
Masking was developed by the Institutes for the Achievement of Human Potential 50 years ago for the treatment of brain injury. It involves the inspiration of previously expired carbon dioxide from a mask held over the face. Carbon dioxide dilates the cerebral arteries and increases brain blood flow. It also drives respiration in a faster and deeper pattern. Masking has proved effective in reducing and preventing seizures. It allows children to eliminate or lessen the need for anticonvulsant medications. Dr. Sosin will explain the rationale and the method of masking.
Posted by: Teresa Conrick | May 04, 2009 at 02:22 PM
Oh Teresa, I am so sorry. I too have come to learn that the other shoe is always poised and ready to drop in the world of autism. I think we've all learned to NEVER say never. Autism is too complicated and the Paul Offit's of the world don't have the balls or the brains it seems, to take on the task of treating these children for their physical illnesses. You however, are the kind of parent to use your intelligence and your know how to make the inroads necessary to find the answers. I've learned a great deal from you and am entirely greatful!! I have faith you will find the right path for Meg's healing!
As you know I have been dealing with the seizure activity again (came with MMR gone with diet until now) as well. I'm hear for you whenever you need to vent!!
Posted by: allison | May 04, 2009 at 01:06 PM
So sorry to hear of this. I was told by a neurologist that around the age of 5 and puberty is a time that these kids can develop seizures. I asked why and they said they don't know - other than something happens to the brain at that time. I guess finding that answer is unimportant to the neurologists out there. But, as a parent, I think it's very important to know why. It seems as the medical community likes to chalk everything up to autism or developmental delay. That's not good enough for me.
I was hoping to dodge this bullet myself - but we've had febrile seizures that developed around the age of 5. My son has only had 2 but that's enough for me because it is the scariest thing I have had to endure. The trips to the ER were not helpful and they chalk it up to - it's only a febrile seizure. Well, again, there has to be a reason he spiked a fever that came on suddenly and went high so quickly. It's not only a seizure to me as a parent.
It's sad that the doctors don't seem to really want to find an answer to these questions that we, as parents, try to find on our own. I've given up on allopathic doctors at this point because they have no answers for me or my son. But, I will not stop trying to put the pieces of his puzzle together - at least I will not give up on him!
Posted by: Laureen Forman | May 04, 2009 at 12:41 PM
Teresa, I've been thinking of Megan ever since you wrote that post for her birthday. What a beautiful girl she is. I cannot say how sorry I am to hear this news.
Posted by: René | May 04, 2009 at 12:20 PM
Teresa, I'm so sorry to hear this. My heart goes out to you and I hope that you can find good help for your daughter somehow. As always, thank you for writing so well.
Posted by: Twyla | May 04, 2009 at 11:56 AM
Benedetta, I'm sorry.
When Mia's seizures started the docs put her on Dilantin - one of the oldest drugs and with side effects of hair growth on the body and gum tissue overgrowth. It didn't stop a single seizure. It spaced her out horribly. And docs I asked outside of the 1964 mentality of Cleveland were appalled that my daughter was put onto this drug.
Posted by: Stagmom | May 04, 2009 at 11:34 AM
My son had a stroke after receiving his third DPT shot at nine months old. 6 weeks later he had a seizure with a high fever that lasted for 10 days. ALthough he did not have the red lips or eyes, or very sick like his older sister when she had kalwaskis -something reminded me of that disease. They put him on phenolbarbitol till he was four. When he went off of it, there were times he was very austistic, would not respond to us, acted deaf. I had to go to school sometimes to deliver clothes when he had incontinence, Sometimes I would find him standing in the middle of the room looking lost and pulling on the bottom of his shirt, One time we came home from bible school and I had bought him a tranformer. He was putting it together on the back porch when he suddenly got up and left, he came back 15 minutes later and was amazed it was still day light (it was 12:00 in the afternoon). The teachers said he stared a lot and acted like he was out of it. He found us one night in the basement, sat down, drooled, bite his tongue, shook. His arms started jerking then it became worse and started jerking so bad his head would snap backwards and had to grab the walls to keep from falling. he had a grand mal seizure and still 15 doctors said he did not have epilepsy, and his EEG was fine. It took till he was 17 years old and a grand mal seizure that broke his nose and almost broke his neck. Even then the EEG was given a week later. When I picked him up from school though I knew this time it would show up because I kept him up all night, made him go to school half a day and he was jerking pretty good when I picked him up. I'm a mean mother.
Posted by: Benedetta Stilwell | May 04, 2009 at 11:30 AM
I am truly sorry to hear this about your daughter. My son's seizures began at age 5 when his mito dysfunction went undiagnosed. Apparently panic levels of alanine and elevated ammonia did not cause any red flags for a team of medical professionals investigating a developmental disability.
For my son who I have had the unmitigated pleasure of treating for 7 years now (what a joy), his seizures seem to be coming from aluminum and cytomegalovirus (CMV). I would look for alternative means of treating the virus as the drug has some horrible side effects.
Posted by: seizures/ mito mom | May 04, 2009 at 11:15 AM
Do not use the anti-epiletic Depokote/valporic acid see Mitochondrial cytopathies by Bruce H. Cohen. L-carnitine is usually low to begin with, and Depokote depletes it further.
Posted by: Benedetta Stilwell | May 04, 2009 at 11:11 AM
Teresa, thank you for sharing Meg's seizure story -- difficult as it is to tell. Thank God she's got you for a mom. My heart hurts for you guys, and I wish I possessed the intellect to assist you.
The ER becomes scarier yet when your child doesn't fit their PDR treatment formulae. When you leave, you feel as if you've been whisked through a washer's spin cycle.
Ah, the dye-filled popsicles... my son was handed a cherry one even though I'd written "avoid red dye" right on his chart.
Posted by: nhokkanen | May 04, 2009 at 11:08 AM
I'm so sorry to hear of this sad development, Teresa. It's something many of us worry about-- waiting for that other statistical shoe to drop once our children are diagnosed. If one bit of evidence alone proves that autism represents a genuine epidemic, it's this: the system was not prepared for so many children in the population to be developing life-threatening seizures.
I think mainstream medicine is mum because the rise in seizure disorders among children alone would send up alarms that something's not right as rain in modern life-- and that autism is a dangerous, serious physiological disease, not a "mental disorder".
Can anyone find a study of the increasing rates of seizures? We know the rates have gone up just as the rates of autism and related environmental injuries have risen. There are sure to be a percentage of children who don't develop autism from vaccine injuries but instead develop seizures. So where's the data? I've been looking for more than a year and haven't been able to find a study, paper-- anything-- even alluding to the rise. I know something like this must exist, even if it's just internal industry documents, though it doesn't appear to be on the web. Has anyone come across this information?
Too bad we can't use the rise in sales of anti-epilepsy drugs (AEDs) as evidence because these drugs are now abusively used off-label as "mood stabilizers" in children with no apparent seizure activity. But we know at least a percentage of that rise in sales is due to seizures.
Posted by: Gatogorra | May 04, 2009 at 10:50 AM
Oh Teresa- I am so sad to hear this. Hang in there. Seizures can be very scary but I am sure you will be right on top of it and doing the very best for Meg! I'll be thinking of you!
Posted by: Holly Austin | May 04, 2009 at 10:49 AM
Teresa,
I'm so sorry to hear about this latest problem.
It's amazing the cold shoulder our children receive from the medical community. The disorder that's always
been around, that hasn't really increased, seems to be an embarrassment to doctors. They know they have no answers.
NONE. ZIP. NADA. They know so many kids are like your daughter, yet they're told to pretend they're nothing new and that all the concomitant health issues are just coincidence.
All the best to you and Megan.
Anne Dachel
Age of Autism
Posted by: Anne Dachel | May 04, 2009 at 09:49 AM
Teresa,
This is a really good article, but equally distressing. Every day I hear of more and more of my friends' kids suddenly having seizures. And the complete neglect by the medical community to study its causes and even not being able to deal with it properly in the ER. I pray Meg will overcome this and it won't happen again. As for all of our kids with seizures-when is the help coming that they so desperately need??????
Maurine
Posted by: Maurine Meleck | May 04, 2009 at 08:54 AM
Theresa, I am terribly sorry to hear that seizures have begun. I am also sorry to hear of the discrimination your daughter suffered at the ER. It is all to familiar, to hear of a child with a label of ASD recieving the brush off as doctors do not seem to think these children are worthy of thier best efforts. Had your daughter been neurotypical, they likely would have done a more thorough investigation.Even though you did not recieve the ER physicians best efforts I assure you the bill you recieve will be for the full amount. I suggest you give his bill the same attention he gave your daughter when he heard the words ASD.
Posted by: paula p proffit merckelouse | May 04, 2009 at 08:07 AM