Guest blog by Deborah Wardly, MD
I have written guest blogs (Part 1 and Part 2) in the past about the link between obstructive sleep apnea (OSA) and intracranial hypertension (IH). We know that apneas can raise intracranial pressure and that intracranial hypertension can be caused by OSA. I suspect that some of the symptoms of OSA can be explained by increases in intracranial pressure. My most recent paper discusses the idea that it may be the anatomy of the recessed jaw that (outside of respiratory factors which increase intracranial pressure) predisposes these two conditions to go hand in hand. More than likely it is the recessed jaw anatomy that also allows for temporomandibular joint dysfunction to also be present when OSA and intracranial hypertension exist in the same individual.
We have seen increasing rates of most of the chronic illnesses associated with OSA over the last 20 years, to the extent that I have wondered if the human jaw is shrinking more rapidly or has reached a critical point in its shrinkage. Along with adult human chronic disease, we have seen increases in childhood illness, not the least notable of which is an autism spectrum disorder.
Interestingly, it has been noted that there are differences in the faces of autistic children when compared to non-autistic children, and between low and high-functioning autistic children. Scientists investigating this phenomenon do not appear to be aware of how facial structure reflects underlying airway patency, or what this might mean regarding the airway etiology of autism. Autistic children are described to have very prominent sleep problems. These problems are well known to pediatric sleep specialists to reflect underlying sleep-disordered breathing (SDB). For example, 53% of autistic children have difficulty falling asleep, and 34% have frequent awakenings. These are signs indicating that autistic children have insomnia. Dr. Barry Krakow has eloquently demonstrated that chronic complex insomnia in adults is strongly associated with sleep-disordered breathing, and it doesn’t seem likely that the cause in children is very much different.
There are a great many correlations between what is found in autistic children and what is seen in OSA, and there are also many findings in autistic children that could be explained if autistic children have mild intracranial hypertension from birth. For example, leptin, IL-6, and TNFα are elevated in OSA, and in autism. Accelerated head growth in the first year of life and favorable response to substances that decrease brain edema, as is seen in autism, might be explained by intracranial hypertension. Intracranial pressure in autistic children has never been investigated. I have collected the data available prior to 2013 and presented it in my recently published paper: “Autism, sleep-disordered breathing, and intracranial hypertension: the circumstantial evidence.” If each correlation between autism and OSA, and between autism and intracranial hypertension is thought of as a “puzzle piece” in constructing the answer to the etiology of autism, then I have constructed over 90 pieces of the autism puzzle with the hypothesis presented in my paper. The ASD/OSA hypothesis is four-fold and requires that: 1) the mother has SDB during her pregnancy, 2) the infant is born with SDB, 3) both mother and infant have variations of the methylation pathway which are then triggered by the SDB, and 4) the infant is prone to intracranial hypertension.
The idea is that the combination of SDB with the tendency for intracranial pressure to increase leads to a pattern of increased intracranial pressure early on in development which contributes to autism, compounding the effect of repeated low oxygen levels in the mother’s womb due to maternal SDB. It is unlikely to present the same as the typical childhood case of intracranial hypertension because it will vary depending on waxing and waning SDB symptoms. OSA can sometimes cause optic nerve (essentially brain) swelling in the presence of normal intracranial pressures while awake, therefore this process can be very subtle. This hypothesis takes into account most of the findings seen in autism, including the multiple various gene mutations seen between individuals.
I propose that it is not so much these mutations that cause autism, but it is the underlying methylation problems as triggered by OSA/SDB that lead to random mutations of genes, producing the wide variations seen. The ASD/OSA hypothesis may also account for the association of pesticides with autism development, in multiple ways. Some pesticides have been shown to affect the growth and development of the maxilla and mandible, and it has even been noted that the risk of autism from maternal organochlorine exposure during pregnancy is greatest during the 8 weeks immediately after neural tube closure—this is the embryological period when the face is forming. Surely pesticides can be directly neurotoxic, however, if they are found to influence brain swelling then this may add to the brain edema that has already been determined to occur from OSA.
It has also been demonstrated that autistic brains are swollen. If children with autism tend to have recessed jaws that predispose them to not only compression of the airway with OSA, but also compression of their jugular veins preventing easy egress of cerebrospinal fluid (CSF), then this brain swelling becomes more clinically significant and may raise intracranial pressure.
Since the acceptance of my paper for publication, several articles were published which support my hypothesis. In 2013, Shen et al. at the MIND Institute published a study that demonstrated increased extra-axial fluid in infants who later developed autism. They concluded that this suggests an imbalance between CSF production and CSF drainage in these infants. Increased extra-axial fluid has also been seen in children with intracranial hypertension. In intracranial hypertension, the increased pressure is present in this extra-axial space surrounding the brain, pushing in on the brain, as opposed to in hydrocephalus where the increased pressure is present in the ventricles, pushing out on the brain. In December of 2012, Lemonnier et al. published a study demonstrating that bumetanide can be helpful in children with autism, improving autism rating scores and social functioning. Bumetanide is a loop diuretic that has also been used in children with intracranial hypertension, to reduce intracranial pressure. Diuretics are a mainstay of treatment in intracranial hypertension.
There is another piece of data that is more anecdotal at present. It has been reported that people with intracranial hypertension can have photophobia, and phonophobia: increased sensitivity to light and sound. (Dr. Park has also noted in his first book that he sees these characteristics in his SDB patients.) It does not seem to be generally acknowledged however, that most people with intracranial hypertension are significantly sensory defensive. I know this from knowing a great many of them. Almost 180 of them have compiled their symptoms on this spreadsheet.
If one believes this data, then 79% of patients with intracranial hypertension have auditory hypersensitivity, 33% of patients with intracranial hypertension have olfactory hypersensitivities, and 50% of patients with intracranial hypertension have sensitivity to proximity. These are very similar to the prevalence of these different types of sensory disorders among autistic children.
I believe that all of these correlations demand further investigation. It has never been determined that children with autism have normal intracranial pressures, and it has never been determined that the majority of autistic children do not have sleep-disordered breathing. Miano et al. in 2010 stated that it is not possible to conclude how significant OSA might be in causing insomnia in autism because most autistic children do not get sleep studies. Add to this the difficulties encountered in diagnosing mild sleep-disordered breathing at your average sleep lab, and it is likely to take a century before we figure out the answers to these questions. Given that it has been predicted that in ten years 50% of all children born will develop autism, we don’t have too much time.
It has been demonstrated that the degree of symptoms in SDB is inversely proportional to the AHI, therefore I believe that we need to start taking mild SDB very seriously and figure out how to diagnose it outside of the most elite university sleep centers. Given the amount of circumstantial evidence arguing for the ASD/OSA hypothesis, I think that autism researchers must rise to the challenge and rule it out formally before it is dismissed.
If you have a child with autism, does your child show the subtle signs of sleep-disordered breathing? Can you hear his breathing when he sleeps? Does he snore sometimes? Does he wake frequently? Does he sleep with his mouth open and head extended? Is he a restless sleeper? Does he fall asleep during the day? Does he have a small lower jaw (“pixie” face)?
If you are an adult with autism, do you get headaches? Do you hear whooshing sounds in your ears? Do you have visual complaints (symptoms of intracranial hypertension)?
If you are a mother of a child with autism, do you have OSA or symptoms of sleep-disordered breathing? Did you have signs of worsening SDB during your pregnancy?
My son is an engineer at a major aerospace company and recovered from autism. I’m Ryan’s mom and wrote the book I KNOW YOU’RE IN THERE: winning our war against autism. interestingly, I had Ryan’s adenoids and tonsils removed in first grade and his immune system improved tremendously after that. Ryan now does all the things the experts said could never happen. Anyone who meets him would never know he was once severely affected. This is the same kid who was in the third percentile for speech when he entered kindergarten and had to be taught how to smile.
You can preview the book at http://www.iknowyourinthere.com.
Make sure you check out the “Foreword” written by Ryan himself:
http://iknowyoureinthere.com/blog/foreword-to-i-know-youre-in-there-by-my-son-ryan-hinds/
Check the news interview about the book on Los Angeles CBS KCAL 9:
http://iknowyoureinthere.com/media/interview/kcal-interview-marcia/
Now that Ryan is okay, my new mission is to get the word out that autism is treatable when you combine medical, behavioral and educational interventions. Please help me get Ryan’s story out there, so more kids can recover like my son did.
I have recently been diagnosed with sleep apnoea, after suffering symptoms for many years and them not being picked up by medical professionals. I have a 7 yr old son, showing significant signs of autistic spectrum disorder. I suffered preclampsia in late pregnancy, which necessitated me being admitted to hospital. I had to be induced, and ended up having a cesarean birth, after my unborn child became lazy, and there were concerns for his wellbeing. Could my sleep apnoea symptoms of stopping breathing during the night have effected my unborn child? And do u think that there could be a link to his autistic behaviours? I am at present struggling to get support in getting my son diagnosed, due to politics, cuts in funding the services for this area etc. am interested in any feedback. Thank you.
Ms. T Allen
My 14 yo son has autism, epilepsy, facial/cranial scleroderma and definitely fits all criteria you mentioned for a sleep disorder. I’m wondering if his seizure activity may be due to cranial pressure as this is not hereditary and he has no chromosome abnormalities. Or could he be having seizures from the lack of oxygen to his brain while he sleeps? I hear him snoring and waking himself up. He gets up numerous times every night. Melatonin helps calm him, but doesn’t help him sleep through the night. I’m going to see his neurologist soon, so I will be bringing up sleep apnea to his attention. I’m wondering, that because autistic children are hard to diagnose for sleep disorder, if maybe having a adenoidectomy and/or tonsillectomy might help him sleep better. Just a thought. Thank you for writing this. It has been helpful.
Hi Dr Park,
I have OSA due to narrow airway.
My 2.5 year-old son has OSA due to enlarged tonsils and adenoids, 80% blockage. He presents with a speech/language delay, sensory issues, adhd and is scheduled for surgery next month. He will also have grommets put in due to fluid. Do you think his symptoms will improve post-op?
Dee,
I can’t make any predictions about your son, but we do see great improvements for most kids to various degrees after this type of surgery.
Good luck!
MY son was born healthy and all was well until about 18 months and I could tell something was off and at 3 he got an autism diagnosis. But I still wonder if he had brain damage as a baby. I remember I was so concerned that as a new born baby he would stop breathing and I would touch him a little or change his sleeping position and he would breath again. I told the nurse and she said its common in babies and he would grow out of it. But now am thinking how many times was he doing this and I dint notice and for how long a period of not breathing. Can sleep apnea cause brain damage leading to autism? I strongly feel this way. His 4 and still doesnt talk and struggles to understand instructions. He gets really frustrated cause and now throws tantrums…….
My Daughter Scarlette was born in December 2011. She just turned 5! During the pregnancy, that I can remember very well I didn’t sleep well, figured it was because of the pregnancy itself that I was restless. I never got myself checked out for sleep disorders so I am not diagnosed with OSA. My second pregnancy with Jacob born Jan 2015 I also was very restless and had difficulty breathing… I often had to get up from bed and walk around but I was out of breath and again thought it was because of the pregnancy and considered normal. My daughter Scarlette was born full term, 39 weeks , and was born with a cleft palate both hard and soft palate as well as a small chin. We didnt know until she was one day old and she wasn’t latching on to my breast! Once we got in contact with a craniofacial team here in Connecticut, we went over her year plan for feeding and at 13 months she got her Palate reconstruction. She recovered well! Since she was 3 months she had a weak immune system making feeding and sleeping complicated. She had to be connected to machines to record her breathing. After surgery she stopped using that machine and surely in a few months she was eating more, except getting just as sick. We always correlated the colds to allergies and viruses. Her chin grew more proportionate to her face. It was around 15 months of age when I noticed regression in development. She was diagnosed with Autism at 18 months. She has been nonverbal ever since her surgery and has been living with autism, getting services. at age 3 she got a sleep study done because I noticed she stopped breathing for 15 to 20 seconds at a time many times during the night. She was diagnosed with Central Sleep Apea. She’s always had a hard time breathing. Even when shes awake she has a hard time catching her breath and although she isnt as sick as she used to get when she was younger she still gets a lot of cough especially at night while sleeping. She recently also got diagnosed with athsma … My poor baby cant catch a break! My son Jacob was born full term as well. Due to his father’s genes he was born with Syndactyly . As he grew for the next months his head measurements went up to the point where we got ultrasounds done and we discovered he had fluid but not enough to be considered dangerous I guess. with time we monitored and the fluid decreased. His immune system isn’t as weak as my daughters although he used to get a lot of ear infections due to extra fluids as well.. He is 2 years old now and is behind speech, he is currently going through birth to three and getting an evaluation done by an Autism based program.I am sorry to write my entire life story on what is supposed to be a brief comment. I am just too convinced there are more variables in this than just “the odds”. I have much more details to share I just want to stop writing for everyone’s sake!! :) I also wonder if Benadryl has something to do with this as well… I have asked my family and friends with children on the spectrum and they too gave their child bendryl as they weren’t old enough for other medications and OK’d by their Peds… :/ ??
Dr Park,
My 5 year old son has delayed speech, ADD/ADHD, and ASD symptoms (did not meet criteria for ASD from developmental pediatrician, but does in school district). He has snored for 2+ years. This past December, while my husband was on business, my son slept with me and I realized it wasn’t just snoring but severe sleep apnea (I’m an RN). He is now 4 weeks post op from an adenotonsillectomy, his speech and engagement has improved, no snoring, and his hyponasal voice has changed.
I’m extraordinarily excited by this. I have been trying hard to get my family members with children at high risk of ASDs (and with ASDs) to understand a similar idea, which I had also pieced together through my research in my own diagnosed and confirmed Chronic Fatigue Syndrome/Fibromyalgia and Upper Airways Resistance Syndrome. I have five nephews and nieces with ASD, three nonverbal, and a remarkably high rate of confirmed sleep problems on that side of the family.
I would like to propose the one thing that might tie almost all of the suspected causal factors in Autism together: TnF-indicated Inflammation in the airways.
Perhaps this builds on your theory of inflammation affecting the brain directly (which is convincing). It could cause all of those effects you discuss, then deprive developing brains of all of he important functions that happen in those stages of sleep disrupted by sleep breathing disorders. That is, rhetorically, what does sleep do to help form a 2-year-old’s brain???
If one can accept that inflammation can cause or exacerbate sleep disordered breathing (I can’t imagine why it couldn’t), then all of those factors that cause inflammation could have some ‘truth’ to them. A sleep breathing disorder compounded by inflammation would likely not show up on an endoscopy exam as do those that are purely mechanical and obvious (not to mention the parasympathetic nervous system increases vasodilation during sleep).
Anything related to GI inflammation could theoretically cause systemic inflammation in all the body’s smooth muscle and mucosal tissues. Pathogens, chemicals, genetic anomalies–could all induce TnF. My Chronic Fatigue Syndrome follows this inflammation-UARS-fibromyalgia etiology, and I don’t think it’s a coincidence that the treatments that work for me are the same as those showing promise for autism behavioral issues, and that they tend to be the few medicines that specifically promote deep sleep where other sleep aids don’t in sleep disordered breathing.
The good Dr. Avram Gold has made some very strong arguments that Upper Airways Resistance Syndrome is chronically undiagnosed due to the myth that it must come with snoring to be present (generally well-recognized phenomena, but Dr. Gold did a good study on it with respect to fibromyalgia).
The inflammation could be there at birth, but then only become an issue for breathing when the epiglottis and airways develop at 1 – 3 years of age. Those existing minor physical anomalies of the airway you mentioned could also be the only reason the inflammation in some children matters. The anatomical anomaly constricts the airway partly, and the inflammation brings it the rest of the way. There are a few seemingly likely ways gender differences could manifest in airway development, and how genetics could predispose a person to TnF inflammation and/or minor anatomical anomalies of the airway (E.g., as in certain periodic fever syndromes).
I can’t emphasize enough how important I feel it is for you, with your credentials, to persist with your theory. Of course, it would go nowhere without a study.
Maybe a polysomnography study on sleep breathing disorders in children 1 – 3 years of age at risk of ASD? It would have to be specifically before ASD indicators develop. Get TnF and inflammatory markers tested as well and see how that correlates with the sleep disorder and, separately, how it correlates to likelihood of ASD development.
TnF could then become a point of intervention, either to relieve intracranial pressure or inflammation-induced UARS, or both. Notably, as you know, TnF is elevated for almost all of the supposed already-identified causes of autism.
More basically, I can’t find any literature even investigating whether or not TnF inflammation can cause UARS, and certainly not in labs with the proper capabilities for finding UARS in the first place.
I’d help raise money!
I would really love to ask you a few more questions through email! I’m scientifically minded and fascinated by this idea.
Thank you for this article. I have an Autistic son, now 17. He sometimes holds his breath with a load, continous noise for minutes at a time at night (My father used to do the same thing). He sleeps with his head tipped back and neck extended (as do I, his mother). At birth his lower jaw was receded (I think they said dislocated but that it would correct itself, which it did after a few days). His lower jaw is on the small size. I am going to take him to an ENT specialist to discuss having his adenoids and tonsils removed. His sister, mother and father have all had tonsilectomies due to frequent strep infections, but he does not get those so much. Is it possible/easy to get intracranial hypertension measured?
This question is for “Chris” from January 5th 2018,, you mentioned ‘the treatments that work for you’, certain medicines that promote deep sleep, may I ask what they are?
Hello Dr. Park,
I have read both of your books, but was especially interested in the guest blog by Dr. Wardly~The Sleep Apnea-Autism Connection. My 37 year-old son suffers from Severe sleep apnea, autism, epilepsy. The apnea is the most challenging currently. He has snored since infancy. He has had sleep studies, we tried CPAP unsuccessfully, we had a dental device (oral appliance) made that he won’t use, we have a special bed for him that is raised up at the head, and we have him on gluten free and dairy free foods as much possible, eat organic, but he has a big appetite and loosing weight
is challenging. The only thing that is helping him now is Positional therapy (he sleeps in a Lazy Boy chair much of the time, and not very inclined, or the snoring becomes a problem again). We are all suffering from sleep
deprivation as a result.
The blog addressed intercranial pressure as potentially the cause of all my son’s problems. Paul was born through Emergency C Section when the fetal monitor showed a low heart rate, but there was no cord around his neck. The doctors said he had a “big head”, parietal bones were extended, possible hydrocephalus prenatally that had corrected itself, no shunt needed. He was a projectile vomitor (he had a weak suck and took in too much air). As I mentioned, he snored right from infancy, and he has been a bed wetter (due to low oxygen levels I have come to understand). Someone responded that cranial sacral therapy helped them. Paul was treated by an Osteopath in New York for about 10 years in the past. I have been trying, unsuccessfully, to find one here in Ohio where we now live, to see if that could help his many problems.
He has had vision therapy for many years, but still will press right eye and pressure point behind right ear when tired, stressed, headachy? He is nonverbal so it is hard to know for sure. He understands much and communicates volumns in his own way. He uses an iPod and iPad, and his own creation~a wallet sleeved size card onto which secretary (Mom, Pop or whomever) writes his requests. He has his own business card for introductions to people, and his passion is collecting logos (business cards, etc.)
Paul is sun sensitive, anxious, has insomnia undoubtedly, no known chromosome abnormalities, tactile defensive, has had ear tubes, eye surgery.
Can you help us or direct us to further help? ” We are drowning here”.
Thanks so much,
,
Barbara and Bob And Paul Caruso
Hi,
My 11 year old son, recently diagnosed HFA, has always been a poor sleeper. He had a very large head as an infant and his pediatrician was concerned about the growth rate of his head as a toddler. He often snores and not that I know to look at it, I’d say his jaw is (visually at least) in the smaller-side. He was a bed-wetter until he was about 9 and still has accidents once in a while. He does complain about not hearing well (though hearing test was normal) He had frequent ear infections as a baby/toddler. He did have tubes twice and had adenoids removed, but not tonsils. He also complains of seeing black dots sometimes and that he sees colors differently with each eye. Might this all be linked and what would a possible treatment be? We struggle GREATLY with his behavior. He is chronically inflexible, very easily frustrated and has a lot of meltdowns. He has always had a lot of sensory issues (textures, food textures, clothing, being touched, noise). While very intelligent, he has a lot has trouble in school. For years, I have been desperate to find answers on how to help him be able to cope better with life and to function better.
I just posted, and I thought it was unrelated to what is being discussed here, but I just saw someone else post about GI issues, My HFS/ASD son also has A LOT of GI issues. Chronic, severe stomach pain and frequent vomiting. Thought I’d add.
Ms. Caruso,
Sorry for the late response. Your son’s situation is challenging to address. Treatment options for sleep apnea are generally are not tolerated well in children and even adults with ASD. Without examining him person, I can’t formally recommend anything.
I notice a difference when my autistic kids have temperatures… What would that do to pressure on the brain?
Plausible
You were cited here Dr Park: https://journals.plos.org/plosbiology/article?id=10.1371/journal.pbio.3001502
Sorry, but where in the article am I cited?
so sorry, I do mean the author mentioned in this post