My 4 years old son is mildly autistic. He is doing well, attending a regular school and learning to interact with people.
I first suspected he was different because he didn't locked eyes with my wife when she was breastfeeding (I have 3 older kids to compare). He learned to walk in time, but he was not pointing to the things he wanted (instead used to grab me by the arm and use it like a tool), and he was unwilling to look at something we were pointing like a neurotipical kid does. I saw many other signs, but my wife was always in denial until he was 2.5 and I showed her some videos of autistic behavior on Youtube.
Long story short, it almost ruined my marriage (my wife felt like I was torturing her by sending her material about autism). I don't know why I knew more about autism than the pediatrician, but the subject always interested me.
My advice is: if you are suspicious, get your son diagnosed by a specialized neuropediatrician (do not waste time with someone who is not well prepared to diagnose autism).
Another anecdote here: Both my daughter and son are on the spectrum (high-level autistic, or aspberger).
Son was diagnosed at age seven, daughter at age fifteen. Generally it can be harder to pick up with girls. They tend to be better mimics and it can present much more subtly. I really wish we had figured it out sooner with our daughter – she has had a lot of issues with anxiety and school refusal for the last few years, and I wonder if had had the necessary information earlier like we did with our son, how much of a difference it would have made. (Although both are autistic, they present so differently it was not obvious.)
So I reiterate scardine’s exhortation to seek a diagnosis and early treatment if you suspect there may be autism at play. There’s a steep learning curve to getting your head around it and figuring out how to best help yourself and/or your loved ones, but you read hacker news, so you’re up for the challenge. Find (or start) a local community support group – it’s a hell of a lot easier than trying to hack it alone.
I replied to the previous commenter recommending they look into Auditory Integration Training - http://www.aitinstitute.org - the website marketing is mostly geared towards children with symptoms relating to the full autism spectrum, however there are also benefits for adults.
But the page advocates for a bunch of other things, from useless (Homeopathy) to harmful (claiming that Autism is related to Heavy Metal Toxicity, although the link is broken).
It's unfortunate that autism is a field where quackery of all kinds is widespread.
I haven't read the Wiki, however Wikipedia includes a balance of all opinion and thought on any given topic - whether they are using science to back it up - or not. AIT lists 28+ clinical trails on their website - http://www.aitinstitute.org/ait_clinical_studies.htm
Did you read my comment with my experience? What were your thoughts on my experience and explanation?
Just took a quick look at on Wikipedia link you made to the section "Insufficient efficacy and evidence basis" - they likely should update that with links to the other clinical trials.
The other part to AIT is that in order for it to have a greater impact you have to also remove/fix other factors that could be overwhelming the body - food sensitivities, unknown allergies, digestive problems, etc - which people then of course can not then 100% claim that the sound therapy aspect had an impact. For me, I know it did because the result was dramatic - it wasn't placebo. That's my qualitative data to add to the mix. I'm not sure what process or protocol that research reference in the Wiki page on AIT used, don't have time to thoroughly review it and I'm not an audiologist or trained in all aspects of AIT either; my audiologist is also a naturopathic and homeopathic doctor - so his breadth and depth of knowledge and understanding of health systems of the body would give him better insight into what's important and what isn't. I welcome the skepticism though.
Quackery permeates every field from mild headache to cancer, but it's easier for people to fall for it (and for quacks to make a quick buck) in fields where science has yet to give us a good picture. I hope the situation will improve as research continues and we learn more concrete facts about autism.
Or people to be skeptical because science has yet to give us a good answer, although a lot of the time the leading edge of medicine and science and skepticism is more about education and knowledge permeating society. Stem cells have been in use since 1991 on race horses to heal them - big money in race horses which is why it was tried there - however it's only just starting to become mainstream for people. That's 26 years for the science and knowledge base to develop and reach people - doctors and otherwise.
Thank you for sharing your story. As a guy who's about to get married, I began paying more attention to articles like this one. I am now ware that early diagnosis is important. I will make sure to see the right specialist if I suspect something.
My two older boys who are adopted were diagnosed with aspbergers.
No one, when they got older, would think they have been diagnosed with it. My oldest still walks on his tip toes at 24, but he is a senior in college and is in the National Guard. They both had nightmare of a childhood prior to coming to my house.
I have worked for several years as a TSS as a second job and the earlier you can get therapy started the better the 18+ outcomes will be. Don't wait till they are older to see if they will grow out of it.
PS - If you have had a bad TSS experience or any other worker with your child just request a new one and learn what approach you are using. Parents are the number on expert on their own child and make yourself into the best expert you can be.
Just out of curiosity: why do so many people misspell 'Asperger' as 'aspberger'? It strikes me as not obvious enough to be so common, and yet here we have two sibling posts that make the same mistake.
It's not a problem, of course, I'm just curious (and secretly annoyed, but that's my problem)
Guilty - I copy and pasted the spelling. I really have a hard time with spelling of English my whole life. There is no way for my brain to make sense of it. Phonics is a myth. I got straight 4.0 in college and that included thousands of pages of papers and learning Ancient Hebrew and Classical and Koine Greek.
Great advice. Your story is very similar to mine. The family doctor at the time was no help. He was showing clear signs at age 2, and she told us just to wait and see if it gets worse! You really have to go to someone who is trained to recognize autism.
It was the pediatric dentist saying something at age 4 that made us realize we need to get him checked out (even thought my mother-in-law had been mentioning the lack of eye contact for some time), and he gave the exact same advice you did. Go to someone who knows autism.
We went to a development psychologist and that was when we both realized. My son is now in a PAC (preschool autism class) and getting the help he needs, and we are learning a lot too.
If you haven't heard of Auditory Integration Training, I recommend looking into it. http://www.aitinstitute.org - the website marketing is mostly geared towards children with symptoms relating to the full autism spectrum, however there are also benefits for adults.
I'd love to hear more about your experiences with this! My daughter does not appear to be autistic, but I have long suspected she has hyperacute hearing.
Did this work for you or someone you know? Their intro video only states that it "strengthens and balances your hearing system", which is too fuzzy for me to reason about. Thanks!
I just read the article ... it has absolutely no explanation as to why AIT wouldn't or couldn't work - and I just noticed it's from 1994 - 23 years ago.
So many of the studies (http://www.aitinstitute.org/ait_clinical_studies.htm) seem to have small sample sizes or other issues (e.g. some have no control group). I'd love to see a large, well designed study to convincingly show the scientific validity or lack thereof of AIT, at least for people on the Autism Spectrum.
Draw your own conclusions from the studies that exist and the reviews. Based on those, to me, it doesn't sound promising.
After fully reading the link above, I first noticed that the author is a psychologist and not also an audiologist. Not saying that to discredit him, other than to point out he might not be the best person to reference, who may not fully understand the research he's reading - especially because they don't mention if he actually has training or personal experience doing the sound therapy/training or offering it to others. Likewise, he references the 28+ clinical trials that AIT links to on their website, however he doesn't go into any of the that research himself to analyze it and tell us why. Yes, we'd have to read all of the referenced material to perhaps start to understand the process -- however unless we've also been trained to offer AIT properly then we can't know if their protocols are flawed --- unless there was, as I wish, an official response by AIT people to outline where the was or may have been problems with their process, including perhaps offering AIT to people who shouldn't have been candidates to begin with.
I agree more studies is always better. It's trickier when something that maybe only benefits a very small % of the population.
Did you read my comment explaining my experience and what I know about AIT? I'd love to hear your thoughts on that qualitative data.
What I'd be curious about is having someone who's experienced with AIT, a practitioner and has deep domain knowledge, to see how they would counteract the information in articles like the one you posted.
I also always have questions for professionals/audiologists and organizations that are skeptical of AIT. I wonder if they have a sound (pun intended) explanation for why some people can have a diagnosable imbalance in their hearing, whereas others don't; I explain what I mean by hearing imbalance if you read my longer comment I linked to above.
It helped me in part with hyperacusis - hypersensitivity to sound. One theory relating to how problems can start is from painful ear infections. Sound causes pain and then the mechanism in the brain that wants to keep track of and avoid pain starts to abnormally develop associating pain with sound - so you can avoid it. ADD/ADHD, depression ... all seems reasonable to stem from this - if you're constantly focusing on sound or attention drawn by sound then you can't concentrate on thought or other, likewise, that prolonged state could lead to depression. There's quite the spectrum of what can come from it, also depending when the developmental delay occurs.
The training/therapy is 10 days over 2 weeks (5 days per week), 2 sessions per day, once in the morning and once in the afternoon, each session being 28 to 33 minutes long - using specially modified oscillating sound based on your audiogram.
The first time I did AIT was in my early 20s. The audiologist I went to, who is also a naturopath and homeopath, set me up across from a ~7 year old boy with his mother. He had the 'zombie' autistic look - no expression on his face, arms fixed by his. His mother would point to the chair and tell him to sit, and he'd go and sit - so he could understand. In the boy's case, I had asked the audiologist - he explained to me that the boy was able to receive input but he was blocked from outputting. What I observed over that initial week, along with the benefit I personally had from doing the sessions, sold me completely on the subtle power and benefit of it. At one point within the first week the boy start saying single words and then a few words together. He wasn't just saying the words though, he was YELLING them. Why? He had never spoken before so he hadn't learned volume control yet. The second week on the Monday he was so excited for the session that he ran into the living room and his seat without taking his shoes off. He sat quietly, with a huge smile on his face, just flipping through a kid's book - I presume reading it.
AIT should be mainstream and helping that happen is part of my life's work - that I at least hope I'll eventually be able to integrate into my plans.
You can actually do an audiogram to check for an imbalance in hearing as a diagnostic tool - it's a good way to verify if someone is likely to benefit from AIT.
Currently audiologists during a hearing test just check to make sure you can hear well-enough. Can you hear at 15 decibels in both ears? Great. It is simple however to check for an imbalance in hearing. You check instead of how LOW of a decibel you can hear in each ear. For example, if in your right ear you can hear the 1000 Hz frequency at 15 dBs and in your left ear you can hear at 12 dBs, then there's an imbalance of 3 dBs. Your brain and body is a system wanting to find homeostasis - so it should correct for this and there shouldn't be a difference. That can tell us that something is going on. In fact, at certain frequencies if there is an imbalance you can accurately predict the behaviour of people -- if there is an imbalance at 1000 Hz then that person will 100% of the time be depressed, medication won't help them, nor will talk therapy -- they are stuck in a fixed state. There are at least a handful of other frequencies that if there's an imbalance showing then there are the predictable behaviours, and that can be used as a guide for talk therapy - along with doing AIT to help the brain become unlocked/malleable again. It's quite fascinating.
There's another sound therapy method called the Tomatis Method. The difference between the two is simple. If the developmental delay or problem occurred while the child was in the mother's womb, then Tomatis method is needed -- it focuses on frequencies that the body/ears/brain hears while in the womb. If it's anytime after birth then AIT is supposedly sufficient. The Tomatis method is a much longer period of time listening - I believe something like a minimum of 3 hours of listening per week over 3 months. There is a book that's out of print that I've never read, though I've been meaning to for a decade now - called Hearing Equals Behaviour - the audiologist told me about it.
The audiologist also had told me to stop eating wheat, as he had seen the progression of what I was dealing with caused by wheat; interestingly enough wheat is linked to childhood ear infections as well - I'm not sure if it's related to that there's an opiate in wheat, however I am very affected by wheat and have avoided it since then.
Here's a provider's website that has a simplified pre-care questionnaire, for both children and for how symptoms present for adults:
I hope this helps fill in some gaps to the vague marketing speak of "strengthens and balances your hearing system" - although apparently it does help the ear muscles flex more properly - I suppose like helping get it out of a spasm state. That seems to be easier for people to grasp as a concept, though you're right it doesn't really explain the value of it.
Feel free to email if you have any questions: matt - at - engn - com
This is definitely interesting, scientifically, and may help us better understand Autism (and its causes).
I cannot imagine this will see widespread adoption outside of research. MRI scans remain expensive and many MRIs have waiting lists at hospitals. Even today, they regularly use less safe technology (e.g. CTs) because they're less expensive and there will be more available.
There's no safety reason why you shouldn't do this. MRIs are darn near harmless. It is just an economic issue with gaining time on an MRI to discover information which may not change the overall outcome for the child (pediatricians are getting better and better at detecting early signs of autism).
Heck, if MRIs were readily available they'd quickly replace ultrasound during pregnancy (since MRIs are likely safer and superior given that they better represent depth). But alas, a MRI costs up to $1m for a "basic" one and up to $3m for a fMRI, and that's ignoring the space/training/power utilisation issues.
I've been working on a bootstrapped company building a low-cost MRI for about a year now. We're hoping to have a demonstrable prototype in another year or so.
So we think that we can get to that future where people pick MRI based on application and not cost or availability.
Out of curiosity, what are the cost cutting changes you're making?
I've wondered why there are no MRIs using high temperature super conductors yet, it seems like such an obvious way to cut costs (as you don't need the extreme cryogenics).
I can't go too much into details, but suffice it to say that we're not using super conductors at all.
High T super conductors will be very interesting in the next decade, I think, but right now there are a few issues that I'm aware of:
1) The high T super conductors are almost all crystals, not ductile metals. This means it can be very difficult to form coils or other structures out of them.
2) High T super conductors generally can't withstand as high a magnetic field as the lower T super conductors. I'm not sure how practical a concern this is for MRI.
The benefit of High T super conductors is that you switch from using liquid helium as your cryogen to liquid nitrogen. This is a major simplification, but we're not all the way to room temp yet, unfortunately.
The specs given by the wire you linked is much more impressed than I would have guessed. Particularly the ability to maintain performance at tight radius. Glad to see things are progressing!
I'm so glad to hear that. I've been thinking for years that MRIs seem like an industry that could and should be disrupted. The benefits could be massive.
I'm not in the medical field, but I really believe the future of cancer medicine will strongly lean towards prevention and early detection, as opposed to just cure.
Where I live there used to be radio advertisements for a service that would give you a full body MRI in an effort to find cancers that could be treated before they spead.
After a bit of reseach I discovered it's a false promise. A lot of people have benign lumps and growths they can carry around for a lifetime without any trouble, and while MRIs are quite safe biopsies are not. If you don't have a reason to think you might have cancer, i.e. the MRI is a screening tool and not being used for a diagnosis, the very small chance you'll die of complications from unnecessary biopsies outweighs the very small chance you'll save your life by discovering a treatable malignant growth.
At least, that was the state of the art 7-8 years ago.
I've heard the same said of getting mammograms started earlier in life: they don't recommend it because the time spent chasing benign lumps is neither safe nor efficient.
This always seemed to me a terrible indictment of how medicine is practiced. Knowing that, do you have to chase down every lump your screening finds? Can you not consider the benefits of investigating further based on the dangers of doing so, the risk factors the patient has, maybe even what you see in successive scans over time?
I am not a doctor, but there seems something unhealthy about a system in which you are advised to avoid learning information about yourself in order to avoid treatment.
> Knowing that, do you have to chase down every lump your screening finds? Can you not consider the benefits of investigating further based on the dangers of doing so,
The problem is this: How do you when to investigate further and when not to? Unless you can come up with a way to make that choice without just rolling dice, you're not really doing any better.
> ... the risk factors the patient has, maybe even what you see in successive scans over time?
Aside from perverse incentives as mentioned by someone else, there may also be a risk from the scan itself (as in breast cancer screening, e.g.). There's also secondary effects from a positive scan like anxiety before being able to confirm or reject a diagnosis -- this has known health effects. The confirmation itself may have associated risks, etc.
It's far from clear that the benefits outweigh the risks[1], so it seems like overkill to call this an indictment of medicine.
(I should also add that in e.g. breast cancer women who are known to be at risk -- there's specific genes which carry very high risk (BRCA1, BRCA2) and other genetic factors with high penetrance.)
[1] This is also something that many in the medical profession acknowledge, see for example [2] where there's a load of material on breast cancer, specifically.
The incentives aren't aligned. A doctor who sees a lump and does nothing has a huge downside risk: it could be malignant and everyone will believe that the doctor is at fault. A doctor who orders the test will never be blamed for a fluke complication during a biopsy.
It's hard to resolve becuse it's not even about money. It may be the doctor who is blaming himself.
The doctor or the patient; if you're told that there is a lump (or seventeen) and it's probably nothing but you can get it checked out if you really want, most people will blame themselves if they don't get something checked out that later turns out to be something, and they know it.
That doesn't make sense to me. I have, many times in the last year, had a doctor say to me some variation on, "this isn't dangerous, but it could become so -- we'll keep an eye on it."
So it's not that they can't act with sense and restraint with respect to risk. They clearly can.
With respect to breast cancer specifically, they told me in school that finding it early improved your odds, and the earlier the better, and if you really wanted to do the right thing, you'd physically examine yourself looking for lumps on a monthly basis. That didn't seem unreasonable - and yet when something more accurate and objective is available, it's to be avoided out of a fear of unnecessary biopsies?
> you'd physically examine yourself looking for lumps on a monthly basis.
That's not the current advice. Current advice is that women become aware of what's normal for their breasts, and look for certain specific changes and not the vaguely described "lumps".
> Overall, the sensitivity of mammography is about 84 percent [9]. This means mammography correctly identifies about 84 percent of women who truly have breast cancer.
> The more mammograms a woman has, the more likely she will have a false positive result that will require follow-up tests. The chance of having a false positive result after 10 yearly mammograms is about 50-60 percent [22-24].
> In 2017, an estimated 255,180 new cases of invasive breast cancer are expected to be diagnosed in women in the U.S., along with 63,410 new cases of non-invasive (in situ) breast cancer.
Ann, a 45 year old woman, goes for a mammogram. It returns a positive result. What are the chances that Ann has breast cancer? (Scarily lots of doctors can't answer this question if the information is presented as percentages. See Gerd Gigerenzer's book Reckoning with risk for many examples.)
> Magnitude of Effect: In the randomized controlled trials (RCTs), for women aged 40 to 74 years, screening with mammography has been associated with a 15% to 20% relative reduction in mortality from breast cancer.[1] Absolute mortality benefit for women screened annually for 10 years is approximately 1% overall, ranging from 4 per 10,000 women who start screening at age 40 years to 50 per 10,000 women who start at age 50 years.[2] Based on the 25-year follow-up from the Canadian National Breast Screening Study (CNBSS), an RCT of breast cancer screening,[3] there is some uncertainty about the magnitude of benefit of mammography in the present day.
I think you're exactly right - more frequent, less expensive testing means we have to change the criteria that mandates further investigation.
One dilemma I've been thinking about recently is that there's an unfortunate burden put on care providers due to litigation that results in increased cost - the provider or radiologist that sees a "maybe" or a "shadow" on an image has to order a biopsy just to protect themselves from being sued on the off 1% chance that the thing becomes a serious health concern. In an environment where consumers evaluated their medicine based on value/$ they would be further dissuaded from a biopsy, but in America the nature of medical insurance disincentives this sort of cost analysis skepticism.
Getting an MRI and having each (so far symptomless) lump examined is not the goal. But getting an MRI every 6 months to a year and being able to see the changes in these lumps is much more important.
I've heard this defence before but it is absolutely wrong form a logical perspective. We aren't forced to perform a biopsy on everything that shows up just because we see it.
It seems only logical that occasionally there would be something detected which is unambiguously cancer. The ones that are ambiguous, we could simply monitor without taking action on.
If having more information about the state of your health is putting you in danger, then the medical system is broken. It's as simple as that.
No, you just generate loads of biopsies. These have risk too, so it's a giant waste of time. MRs produce a lot of data and without knowing what you are looking for you are going to miss things.
As with most things, ask a good question, get a good answer.
Really would've thought that with high resolution, time series, and sophisticated algorithms to look at the structure and location relative to what's expected/likely, you could make the data useful. I know what you're saying is true now, but is it inherently true or just a factor of immaturity in the technology?
Immature tech and the way people are. For every lump and bump you see on a person with your eyes, there are a load inside.
We do a lot of research scans on healthy volunteers. You scan certain areas with some trepidation. Scanning the liver of a 50 year old is a great way to find yourself in a world of 'incidental finding' paperwork.
I remember a similar one with prostate cancer years ago. A significant amount of men will get it but only a fraction of the cancers will develop to be dangerous in a normal lifetime. Removing all cases early on would likely cause more deaths than it prevents.
This is still only an argument to not take surgical action immediately every time something is detected. There should never be incentive to deliberately know less information about your own health.
Regarding cancer, we think you're right. That and possibly maintenance - for example, most prostate cancers are asymptotic for life if untreated. For slower cancers that are acquired in old age it can make sense to use less aggressive chemotherapies that maintain quality of life. We think that being able to monitor the development of the cancer closely and frequently is a key component of enabling future therapeutic approaches like that.
Please please please get some radiographer input on the interface. The horror that is out there is just so dire. I have some fantastic screenshots tucked away somewhere of the things that users are subjected to.
Interesting also about the data interface, I wonder whether you can get full data out of a standard MRI, or whether you can only look at it through a proprietary interface.
That area isn't too bad. The format is Dicom and is pretty good at giving you what you want. The format has a ton of metadata per image, and so extra stuff can be written into empty fields for novel imaging applications. Different vendors do different things, but it's not too hard to do a "if Siemens 3T do x"
A recent example was perfusing mapping, where different vendors encode data in voxels quite differently, resulting in radically different perfusion maps between vendors prior to correction. It's also not too hard to get the raw data out and actually reconstruct it somewhere else. However the raw data is huge and you would have to really loath yourself to want to do that.
Where do you find this to be the case? I'm in California and both times I've had an MRI, I had an appointment within a week (non-emergency) and while I don't remember the cost for the first one, my most recent on last month cost me around $500 - that's not a copay, that's total cost, no insurance.
It's not exactly $20, but I'd hardly call it prohibitive.
> they'd quickly replace ultrasound during pregnancy
Since scan time goes up with detail, and babies are really squirmy, it would be interesting to see how a quick-scan (low resolution) MRI compares with ultrasound quality.
But ultrasound destroys MRI in terms of portability, availability, and cost: just wheel in the cart, apply some goo, and there's the baby.
Perhaps more serious situations should use MRI more often instead of diagnostic ultrasound.
I expect that portability is actually a reason why often even visual ultrasound isn't used. Doppler scanning is often all that's needed to monitor heart rhythms
Those are much easier because heartbeats are regular, breathing is regular, and you can image a bunch of breaths and heartbeats and synthesize a nice clean movie.
Random motion is far harder to control for. Irregular heart beats cause a lot of trouble, as do moving babies.
So imagine foetal cardiac MRI.
There are new methods using some pretty mind boggling maths (at least it is tonne) that deal with movement very well. But as with all clever MRI stuff, you can have nice, or you can have quick.
Fetuses are relatively easier than infants because they are effectively strapped into the womb and don't even know they're getting an MRI. They can obviously wiggle around some, but don't move as much.
> There's no safety reason why you shouldn't do this.
When you have seen a few done wrong you disagree with this. They have an inherent potential for death and injury and incidents are frequent, unlike US. Then there is the whole implant safety and contrast safety side of things.
People won't be replacing pregnancy scans with MR any time soon, and the cost of the machine is not the primary reason for this. They scan too slowly and pregnant women aren't that keen on lying still for ages. It's sometimes even unsafe to encourage extended periods of lying supine. US is just too cheap and readily available.
Young children need sedation so they will stay perfectly still; definitely not without risk.
My 1 yo son needs a scan every 3 months and the hospital had to figure a better way to scan him so as to avoid sedation. They finally settled on ultrasound: faster, risk free and precise enough once you know what you are looking for.
I quit a high flying job to research ASD when my son was diagnosed years ago and have read every single paper and website I could find.
My broad conclusion from this is that ASD is a condition caused by lots of different factors with common symptoms.
This makes treatments tough as ASD caused by oxidative stress would respond badly to treatments that work great on ASD caused by reductive stress for example (eg ASD symptoms that seem to get 'better' when taking paracetamol vs ASD made worse by it).
Thus when treatments are tried across the population you get odd results if you're not sub-dividing the groups into likely etiology, I've tried to look for statistically significant sets taking this into account.
The key dysfunctional system in most ASD seems to be the balance between the excitatory and inhibitory neurotransmitters GABA and Glutamate.
The two broad groups for this appear to reflect 'classical' autism, ie same from birth vs 'regressive' ASD, for example secondary to mitochondrial dysfunction where there is a sudden loss of ability.
For the former, a common cause appears to be GABA dysfunction, which the blog epiphanyasd.blogspot.com does a great job pulling together the research on.
In this case GABA doesn't flip to inhibitory from excitatory at birth and this could show up in brain scans for this subset of children with ASD..
The treatment options are interesting in this regard, but the 'safest' trial to check this dysfunction I've found is micro-dosage clonazepam (40mcg), which is already prescribed to children with anxiety (at 500-1000mcg doses). At this subclinical dosage, it should have no impact unless there is a dysfunction, but if it does (which it has in several families I know), then the research into other drugs that could treat this dysfunction becomes far more interesting (eg current trials in France by Ben Ari and Lemmonier on bumetanide).
That's really interesting, thanks for taking the time to share. I had no idea GABA's function in the brain 'inverts' at birth. When you say this could show up in brain scans, do you mean to say it has, or it's a theoretical (in the scientific sense of the word) explanation ?
I remember reading in 'The Brain the Changes Itself' that brain scan studies have observed that the brains of people with ASD do not differentiate between different auditory frequencies well. The way it is described in the book is that as infants develop, the part of the brain that processes sound starts to more selectively 'light up' as we 'learn' different frequencies, like someone becoming more precise when playing a single note on a piano-keyboard. However, it was apparently observed that the entire 'keyboard' lights up for people with ASD, regardless of the (audible) frequency.
I've always wondered about this. The author put forward an interesting theory about sensory over-stimulation in ASD sufferers, but it sounded kinda speculative to me. Did you come across this in your research? And if you did, do you think there's anything to?
That's interesting regarding auditory frequencies, especially in light of some comments by my autistic sister, who over the course of many arduous years of work by our mom became very high functioning. She leads a pretty normal life now (married, has a kid, works as an economist), but wrote the following:
"I don't remember much from before I could talk. The memories I do have are brief and disconnected from one another. I remember focusing intently on an object, such as a crayon or a piece of wire (you know mom, those twisties you use for the garbage) and being able to focus intently on that item, to the exclusion of everything else. I remember thinking that people could read my mind, thinking that they knew exactly what I wanted. I can even remember hearing and understanding some words but not understanding that they were an attempt to communicate. Hearing a sound from an air conditioning vent means the air conditioner is on, but it does not mean the air conditioner wants to engage me socially. It was not that I did not care about what they said, but rather that I did not know that they were trying to say anything to me. I vaguely recall interpreting human words, from family and teachers alike, in a similar manner. "
(from Triumphs in Early Autism Treatment )
Full disclosure - the mom mentioned above is also the founder of an Autism-related business; http://www.oaiautism.com/.
That's something I can tangentially relate to: I have ADHD (diagnosed as an adult, which is rare), and it has a few common symptoms with ASD when it comes to (what others term) 'social deficits'. And I'm also an economist :) I guess the study of complex systems would have a natural attraction to people with an ASD.
In high school, I used to complain to my mum that I couldn't hear my school friends when we chatted on the bus home. So naturally she took me to have a hearing test. It turns out that I have unusually acute hearing (and this was confirmed later in life when I took another hearing test; when I came out of the booth the tech actually said to me 'I can't believe you heard some of those tones!').
In hindsight it's pretty obvious what was happening: I could hear my friends just fine but I couldn't comprehend what they were saying, probably due to the background noise and activity in the bus. In other words, it was an auditory processing deficit (which is fairly typical in ADHD sufferers). It's also interesting when you consider that around 50% of ADHD sufferers also stutter during their earlier years (I did).
The fact that one potentially effective treatment is 'delayed auditory feedback' (basically the stutter has a walkman-type thingie that records what they say and plays it back with a split-second delay), it's not too much of a leap to suppose stuttering might also be caused by an underlying auditory processing deficit (in this case, the processing of one's own speech).
I wonder if ASD and ADHD are related in some way, maybe sharing some common causes. I don't know what the current scientific thinking is, but I'm convinced that both are ultimately neurological disorders. Even the GABA-Glutamate theory is consistent with some other typical features of ADHD: super-high co-morbidity with anxiety/panic disorders and 'night-terrors' in early childhood (again, I had these and they were awful).
It feels like we're very close to understanding these conditions via direct observation of their (immediate) causes. Neuroimaging is getting cheaper and cheaper, and will eventually result in neurology and psychiatry merging into a single field. At that point we'll have practitioners capable of really understanding causes (neuro) and determining appropriate treatments (psychopharmachology, and maybe neuro-physical treatments).
Thank you for story.
My son diagnosed with autism at age two. Now he is 7, and practically did't speak (not counting simple phrases like 'give water, give pasta' etc..).
Sorry for disturbing, but could you tell me (if it OK for you) at what age you sister start to understand / talk, and is there some 'aha!' moment maybe? And did you mom works only with ABA or some other method too?
Sorry about my english.
Of course. I don't think she really spoke at all until age 4, and it was only with very, very intense behavioural therapy over the course of years that she made any progress at all. To give a sense of scale, my mother quit her job, got a master's degree in the field, and dedicated herself to it full-time (as in - her whole life; not just her whole professional life).
I don't recall a particular "aha" moment, but then, I'm only two years older than her, so I might simply not have been paying attention.
Part of the issue was that this was in the late 80's, and diagnoses were much, much less common then.
I was intrigued when my son had paradoxical reactions to GABA analogues so dug more into this (also has paradoxical reactions to benadryl, which is a different can of worms).
I think ASD, ADHD etc are all linked in terms of neurotransmitters and ion channel imbalance that causes overload on various pathways.
On interesting element on auditory processing is the similarities between ASD auditory sensitivity and hypokalemic sensory overload. Anecdotally I have seen dosing potassium reducing auditory sensitivity short term for possibly this reason.
Thanks for the link. I've read the first few pages: it's a really good read! Will definitely be reading this on the weekend.
On the paradoxical reaction to benadryl, and this is completely amateur speculation on my part, I wonder if it's because of benadryls anticholinergic effects (combined with a greater sensitivity, lower threshold etc.) resulting in a pseudo-anticholineric toxicity? And thereby outweighing the more typical effects of H1 anti-histamines? (disclaimer: I am very not a doctor, and this stuff is mostly beyond me)
Wow, that's really interesting! I've been diagnosed with Asperger's, and went on clonazepam (and before, Ativan) and that really helped what I thought was anxiety. I mean, I did notice a direct benefit, and there's no reason to believe you over my doctor, but I'm always interested to alternative explanation as to why meds work.
It seems that we have deep learning applied to MRI:
A deep-learning algorithm that primarily uses surface area
information from magnetic resonance imaging of the brain of
6–12-month-old individuals predicted the diagnosis of autism
in individual high-risk children at 24 months (with a
positive predictive value of 81% and a sensitivity of 88%).
3 major factors that are highly correlated:
1) Using a particular drug
2) Age of father
3) Being male
Majority is genetics though, so if the two parents are both highly intelligent and/or on the spectrum, good chances the child will be as well.
Autism is principally caused by the brain neurons developing too quickly during development, and then not reaching the same levels in fully developed adults. One theory thrown around is it's the rapid neuron development, so having intelligent parents means you have a chance of overshooting the threshold of "safe" development resulting in Autism.
I presume this study has better, more-up-to-date metrics though.
Note that age of father may just be due to delayed mating among broad spectrum phenotype people, and not causally related. We also don't know about the male part for sure because of underdiagnosis among women, but maybe there are X-genes involved? We know some genetic diseases which are X-linked cause autism-like symptoms.
My oldest son has adhd+autism. It is difficult to explain how hard it has been for him and for us as parents. The social and school situations is always a problem, it is one day at a time and we all try not to break. He looks like any other boy, but emotional(anger, nightmares, .. ) it is a roller coster and even his special teachers has a hard time.
So with that, I wish future parents will have it better and maybe some autism detection will help with early diagnostics. I can list so many things that my son cant do, that other children can. But at the same time, he sees things very uniquely and any groundbreaking invention will come from a boy like my son and not from my other "normal" children. Autism can be terrible , I wish that I could spare him all his troubles, but in some way the Autism is also a gift.
I cant help but wonder if some of our brightest minds all had some diagnose and was just strong enough to survive the "normal" life.
Best wishes to any person with autism and even parents struggling out on the interwebs.
In Canada, you need to wait over 2 years to get any sort of treatment, because of the long lines. My friend has 2 autistic children, who both suffered and continue to suffer because of inadequate funding. And because of the 2 year wait, these types of diagnoses are useless, because they won't get funding until much later. It's a travesty.
But here in CA, if you have Kaiser, apparently they have a gold medal autism treatment program, according to a doctor that deals with child developmental disorders. It's because they got sued several years ago, and the result was they now put every child in a top autism treatment program.
Why am I constantly lambasted by commenters on Reddit about the superiority of the Canadian healthcare system... while in threads like these I you see Canadians upset about massive wait times?
Because the healthcare system is vast and has many aspects. It also varies across locations.
My son doesn't have classic autism but he has developmental delays, sensory issues, etc. Trying to find providers here in the bay area can be extremely frustrating with extremely long wait times and we have great insurance. Our prior plan was Kaiser and it was just as much of a hassle but in a different way (having to go through a special office to get approval for therapists, etc).
If you have money you should be able to buy your way to the front of the line? Poor people should just die anyway. They are a burden on the rest of us. Send them to the work houses or let them die and decrease the surplus population. ...
Please recommend to your friend about Auditory Integration Training - http://www.aitinstitute.org - the website marketing is mostly geared towards children with symptoms relating to the full autism spectrum, however there are also benefits for adults.
I'd like to know the prevalance of 'false positives' with this test. If we scanned the brains of a completely random set of babies (these were high-likelihood cases), what percent of infants would show abnormal brain topography, but go on to be "normal"
(EDIT: Sorry, I just figured out the control-group - it's the extant body of knowledge around what describes normal head size - remarks about careful interpretation of results still stand)
Found you all the way down at the bottom here and I decided to have a quick look at the abstract to see if I could find something to put your mind at ease. I couldn't.
In fact the language "prospective neuroimaging study" suggests it's more like a pilot study than anything conclusive.
The sample population "of 106 infants at high familial risk of ASD and 42 low-risk infants" is used, and while it seems like the 42 is a control-group I think that's misleading. Surely a "control group" would be one where the infants didn't exhibit this brain enlargement?
There's reference to a "A deep-learning algorithm" rather than any well-understood approach for determining correlation e.g. a simple T-test.
Finally the language "Brain volume overgrowth was linked to the emergence and severity of autistic social deficits" suggests an actual causal link is suggested, which doesn't seem to be the case. Just that a correlation has been discovered.
There could be more to it but it costs £22 to look at the actual paper.
But it does seem to me as though this is another case of incomplete science being presented as fait accompli. It doesn't contradict any scientific consensus so extraordinary evidence not required, but the BBC's interpretation of this as "Autism detectable in brain long before symptoms appear" does seem like a bit of a leap ...
For anyone curious about the history and rise of autism diagnoses (attributable entirely to redefinition from a narrow, "Rain man"-like condition to a broad spectrum of characteristics), this interview is the best resource I have encountered:
> history and rise of autism diagnoses (attributable entirely to redefinition from a narrow, "Rain man"-like condition to a broad spectrum of characteristics)
or may be it is connected to less and less exposure to Sun (office work and sunscreen usage), i.e. vitamin D deficiency. High correlation between vitamin D deficiency and increased autism rate is very visible in the case of Somali immigrant communities in Sweden and Minnesota (less sunshine, dark skin plus significantly bigger cloth coverage of the body results in the observed severe vitamin D deficiency in the Somali immigrants there). Such correlation is also present, while less pronounced, for Sweden children for whom 3rd trimester happened in winter.
This one is much easier than the convoluted answers - just use the accurate quote. Don't remember it? Google it, tends to find them easily. If it's completely apocryphal you can just say apocryphal or don't attribute it.
"Paraphrased" typically has a somewhat different connotation, especially when you're using a direct quote.
That makes it sound like the purpose of paraphrase is to give you license to misquote someone out of laziness, which it isn't. It's supposed to clarify meaning or, with direct quotes it's more often than not used to adapt a quote to the topic at hand.
I think it does clarify meaning in this case: it translates from 18th century English to contemporary English, while retaining the sense of the original.
Apocryphal and incorrectly attributed to make it sound like he never even said something with that sense. The two quotes are more than alike enough in sentiment to attribute the idea to him, if not the exact words.
In which case, "Jonathan Swift once said something like...."
The anti-vax crowd has an identity-level stake in that narrative. Facts that counter that narrative are taken merely as an attack on their selfhood at that point, just like any other identity-level investment in a belief, be it Democrat, Christian, American, or anything else.
Unless you regress into severe Autism, it's very difficult for parents or even doctors to recognize Autism until they are atleast 2 years.
Also according to the schedule, there is no big dose around 2 years. After 18 months, there are not many doses on schedule until children are again 4 years.
Most parents complain about MMR vaccination that is scheduled at 15 months. My son regressed into Autism after MMR. It is true. I hope the world realizes it before more children get effected.
First things first: sorry about your son's autism.
> My son regressed into Autism after MMR. It is true. I hope the world realizes it before more children get effected.
"The world" does not dispute that your son started showing signs of autism right after getting the MMR vaccine. Since there is no scientific causal explanation, and since study after study after study have shown that children who get the MMR vaccine do not develop autism at higher rates than those who did not get the vaccine, the best explanation is that the timing of the onset of your son's condition is a coincidence. I understand why parents dealing with their own personal sample size of one jump to that conclusion, but the link is just not there.
Respectfully, saying "just watch this 90 minute film" is not a very worthwhile contribution to the discussion.
I gather from summaries I've just now seen that this film claims there is a global conspiracy to suppress the truth. If you're interested in reality, you can start reading about all the many reasons Wakefield has been discredited here:
https://en.wikipedia.org/wiki/Andrew_Wakefield
The most damning condemnation of Wakefield's "research" isn't even his own retraction of it. It's the number of his "subjects" (N=12, remember) that have come out and said he outright fabricated his data, as regards their child.
When a double-digit percentage fraction of the subjects in your "seminal" work cry foul about that work, you either have to give up that story, or admit that you're just making shit up.
Let's be clear here: Andrew Wakefield falsified his data and was stripped of his medical license for it.
He was invested in a company developing a new vaccine preservative and the study was purely a scare tactic to get vaccine makers to switch from a cheap patent-free preservative (thimerosal) to an expensive patented one.
Vaccines in the western world have completely dumped thimerosal out of an extreme abundance of caution. Many of the vaccines don't even use a preservative or use a trace amount since we have good refrigeration and fast transportation networks. Despite all that the rate of autism diagnosis has continued to increase completely unchanged. In fact rates of autism diagnosis hasn't been affected by anti-vax parents refusing vaccines either. If you properly control for induced bias there is no difference in autism rates among anti-vax parents and rational parents.
When you hypothesize a causal relationship, remove the causal factor, and the outcomes are unaffected we call that hypothesis <i>disproven</i>. There is no link between vaccines and autism. Period. Zero. Zilch. Nada.
I met a woman at an amusement park last year who was certain that her child became autistic immediately after receiving immunization shots. She was wearing a shirt advertising this movie: http://vaxxedthemovie.com/
It seems like this research (if it's proven to be accurate consistently) could be instrumental in either putting that idea to rest or validating it.
It's not an idea that needs putting to rest. There is no legitimate research that supports such causation. "Validation" would invalidate the existing body of research, which is improbable.
Why research has to validate everything? These are facts that children are regressing into Autism after MMR at 15 months.
Science still doesn't know how food gets digested and becomes poop. Will you stop eating, because science doesn't know what really happens during digestion?
> Science still doesn't know how food gets digested and becomes poop.
You're going to really need to provide some kind of evidence for this, because I'm pretty certain that scientists do have a pretty good idea how this process works.
For that matter, I could give you a layman's explanation that, while it may not be 100% accurate, probably would come really close to a real explanation...
Maybe not existing anti-vaxxers, but we might stop making as many new ones if we are able to tell people their child is autistic before it has been administered the any of the vaccines they are skeptical of.
For me this research actually validates the link. Because MMR vaccination is given at 15 months. Parents strongly suspect link between MMR and Autism, not all vaccinations as popularly believed.
> We know it because children who didn't get the vaccine
> show Autism symptoms around the same time.
That, my friend, is you making shit up. I know that you made it up, because such a study, comparing autism rates in vaccinated and unvaccinated children has never been done, despite a huge number of people asking for it.
As others have also expressed, foremost I'm also sorry about your son's diagnosis. As a parent of very young children, I live in fear of getting the news you received, as does my wife whom I might describe as a "Vaccine Skeptic".
Everyone says that so-called "anti-vaxxers" can't be pursuaded by reason. You're on HN so you must have some attraction to reason, and here two people responded with exactly the study you asked for.
I'm curious whether "everyone" is correct that you are not at all pursuaded by this evidence, as well as the evidence presented elsewhere against Wakefield?
My wife had a doctor once assure her when my eldest was getting her MMR something to the effect of "our shots are safe because we don't use the preservative that can cause autism," and now she's scared stiff of vaccines and requires my assurances that all data points to that doctor saying a lot of nonsense, probably with good intentions. My wife doesn't know how to read scientific studies or to distinguish between a sample size of 12 or 90,000, so it falls on me to provide the not-so-reassuring fact that our children will or will not be diagnosed with autism based on factors that are, at this point, not within our control, and that avoiding vaccines is only comtributing a net-negative to our children's health (and the health of our community). But again, my wife also doesn't frequent sites like HN as you do.
I like to think that we shouldn't give up on the idea of trying to find the proven truth about worries like vaccine-autism links, and spread that beyond our usual insular sphere of people who already agree with us. I appreciate that you're willing to share your (obviously unpopular-here, given the downblvoted) beliefs on HN. But I also hope that everyone's efforts to provide factual, scientifically valid data points about the very real lack of any vaccine-autism connection is not for naught. Is my hope at all justified, or is "everyone" else right?
>Low iron intake significantly interacted with advanced maternal age and metabolic conditions; combined exposures were associated with a 5-fold increased ASD risk.
Maternal age and iron intake aren't genes. Neither is folate:
Their final analysis had N=209; is that a large enough sample considering the prevelance of ASD? Or does their use of the SRS scores (as opposed to a boolean "on the spectrum") get around that?
My completely unscientific opinion is that human genetics in general hasn't changed much in recent years, compared to the changes in our lifestyles. If you had to pick one as the cause of an increase in autism diagnoses, the change in lifestyle seems more obvious.
This opinion isn't based on any concrete facts, so feel free to change it.
As a disorder, it's quite new, so it's quite natural that the increase of diagnoses increased in the past few decades.
Also, if I'm not mistaken, the research behind genetics of brain issues is quite straightforward. It's thanks to twins - we analyse occurrence in monozygotic and dizygotic twins. If there is far higher correlation of the disease in monozygotic compared to dizygotic, we know it's genetic.
"Concordance in ASD diagnosis ... is observed in monozygotic (MZ) twin pairs at rates of 60-90%, whereas rates among dizygotic (DZ) twins are estimated at 3-31%."
I think it's more likely that we are just getting better at diagnosing it, and the autism spectrum has not only existed throughout human history, but a large minority of our most celebrated artists, scientists and mathematicians were likely on the spectrum to a degree or another.
Except that is not true.
We know from texts that if anything old "geniuses" were not autistic, but they were on the bipolar spectrum, or more generally on the affect spectrum ( mood disturbance ). Winston Churchill for example is famously bipolar. Many texts refer to feeling an overbearing sudden sadness, as in bipolar depression spectrum.
Autism and schizophrenia are so horrible because they are not on the affect spectrum. So in a historic view autism is indeed a new and a modern madness.
I would recommend the book "The Master and His Emissary" by Iain McGilchrist.
I can't find similar data for age of the father at birth (or rather conception), but the human clinical geneticist I know always emphasizes that age of the father is just as important.
Your intuition is assuming that rates would increase because mutations enter the general population and then spread through that population at some possibly small rate.
However, the prevailing genetic explanation for increases in autism prevalence rate is that mutations appear de novo (out of the blue) in a parent, and then are passed down to the proband with the disease. The de novo mutations in each case are different, more or less.
The reason that prevalence is increasing under this model is because there is is something that is increasing the rate with which the de novo mutations are passed onto offspring.
This reason is age: de novo mutations occur increasingly with age in germ cells, and if germ cells become offspring at later ages, you will see an increase in prevalence.
Studies suggest that spontaneous mutations in sperm become more common as fathers age, because of age-related issues, and these sperm with mutations are more likely to lead to autism. Because fathers are having offspring at later ages, autism is increasing in prevalence.
Maternal age is less strongly related because egg cells are formed earlier in development.
FWIW, I agree there's probably lots of environmental influences, but I don't think that's the only thing.
Some experts in the field think that we've improved our ability to diagnose autism and diagnose it early (as this article also mentions). That's been one explanation for the increase in autism diagnoses. I agree that genetics probably haven't changed enough to account for the entire increase in diagnoses, so there's a counter-explanation.
You have to keep in mind that just because diagnoses of autism have increased doesn't mean that rates of autism have increased. I've noticed diagnostic substitution in my own family.
I first suspected he was different because he didn't locked eyes with my wife when she was breastfeeding (I have 3 older kids to compare). He learned to walk in time, but he was not pointing to the things he wanted (instead used to grab me by the arm and use it like a tool), and he was unwilling to look at something we were pointing like a neurotipical kid does. I saw many other signs, but my wife was always in denial until he was 2.5 and I showed her some videos of autistic behavior on Youtube.
Long story short, it almost ruined my marriage (my wife felt like I was torturing her by sending her material about autism). I don't know why I knew more about autism than the pediatrician, but the subject always interested me.
My advice is: if you are suspicious, get your son diagnosed by a specialized neuropediatrician (do not waste time with someone who is not well prepared to diagnose autism).