Autism specific genes a myth?
ASPartOfMe
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Age: 66
Gender: Male
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Location: Long Island, New York
24 Mar 2021, 4:01 am
Opinion - There are no autism-specific genes, just brain genes
David Ledbetter is chief clinical officer at Dascena in Oakland, California. Scott Myers is associate professor of pediatrics at the Autism & Developmental Medicine Institute at Geisinger in Lewisburg, Pennsylvania.
Identifying these genes is important — not only for clinical care, but also for advancing our understanding of the neural circuits and processes involved in autism or in its core traits. It creates the opportunity to develop therapies targeted to specific molecular diagnoses. And as we learn more about these genes and the consequences of variants that disrupt their function, we have the potential to better understand the mechanisms underlying cases of autism in which a definitive genetic diagnosis cannot yet be made.
But the genetic findings in people with autism are not unique; deleterious variants in the same genes are also implicated in other neurodevelopmental conditions, such as intellectual disability, epilepsy, attention deficit hyperactivity disorder and schizophrenia. Specific genes and variants do not map neatly onto categorical clinical diagnoses or the core cognitive and behavioral traits that define them. In fact, there is not yet a single example of a gene that, when mutated, increases the likelihood of autism but not of other neurodevelopmental conditions.
However, the current evidence does not establish meaningful specificity of any genes for autism. Similarly, there are no molecular pathways or neural pathways or networks that are known to be uniquely associated with autism when disrupted.
We recommend that researchers and clinicians avoid referring to genes as ‘autism genes.’
Two recent studies examined the relative specificity of autism-linked genes by comparing which of the genes are mutated — and how often — in two different groups of people: those who participated in autism studies and those who participated in studies of intellectual disability (although some people in each group had both conditions). One study showed that the two groups differed significantly on these measures, hinting at the possibility of meaningfully autism-specific genes, and the other did not.
Prematurely declaring mutations in certain genes to be autism-specific is problematic for several reasons. One implication is that this information could be inappropriately incorporated into clinical decision making, including autism-specific gene panels or lists. Some authorities have advocated for such gene lists, and autism-specific gene sequencing panels have been marketed by clinical laboratories. However, based on the current evidence, it is misleading to promote these gene panels as being meaningfully distinct from gene panels for intellectual disability, or to omit established intellectual disability-linked genes from the evaluation of individuals with autism. And sequencing all of an individual’s genes is superior to gene panels as a first-tier clinical test for people with autism or intellectual disability.
It would also be premature to limit autism neurobiology research studies to a subset of genes and circuits based on data from the cohorts of convenience that have been used to determine relative specificity of the genes for autism. Advances in understanding of the mechanisms underlying autism are most likely to come from large studies that investigate a broader group of conditions resulting from developmental brain dysfunction and that strive for uniform phenotyping of all participants, including measurement of relevant, continuously distributed cognitive, motor and behavioral traits and biomarkers.
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Professionally Identified and joined WP August 26, 2013
DSM 5: Autism Spectrum Disorder, DSM IV: Aspergers Moderate Severity
It is Autism Acceptance Month
“My autism is not a superpower. It also isn’t some kind of god-forsaken, endless fountain of suffering inflicted on my family. It’s just part of who I am as a person”. - Sara Luterman
24 Mar 2021, 10:33 am
David Ledbetter is chief clinical officer at Dascena in Oakland, California. Scott Myers is associate professor of pediatrics at the Autism & Developmental Medicine Institute at Geisinger in Lewisburg, Pennsylvania.
I first read about this finding a few years ago. I'm not a clinician, but it does provide me a conceptual framework in identifying mental illnesses in my own family. It also explains the frequent co-morbidity among different diagnoses.
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A finger in every pie.
24 Mar 2021, 11:52 am
David Ledbetter is chief clinical officer at Dascena in Oakland, California. Scott Myers is associate professor of pediatrics at the Autism & Developmental Medicine Institute at Geisinger in Lewisburg, Pennsylvania.
I first read about this finding a few years ago. I'm not a clinician, but it does provide me a conceptual framework in identifying mental illnesses in my own family. It also explains the frequent co-morbidity among different diagnoses.
autism is not a mental illnesss
neuotypicals are mentally ill due to their exessive need for social interataction.
24 Mar 2021, 12:00 pm
Absence of evidence yet is not proof.
Obviously something causes the symptoms of autism, such as being non verbal for example, what that is exactly has not been agreed upon by science.
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"The reasonable man adapts himself to the world; the unreasonable one persists in trying to adapt the world to himself. Therefore all progress depends upon the unreasonable man."
- George Bernie Shaw
18 Apr 2021, 8:52 pm
i have disagreement with this . or should i say , there are physical obvious clues to Autism / ASD / Aspergers .
Eyes .. For Example the Ratio of White To Pupil . ASD People Generally Appear To Have Larger Eyes Than NT .
Also .. From What i Have Deducted . People on the Spectrum . From What ive Seen .. The Direct Middle of Their Eyes Lines Up with Each Corner of The Mouth . People with Wider Mouths Appear To Display ASD Traits .. and its More Noticeable with Them .
This Article Outlines a Few Things ..
https://www.spectrumnews.org/news/facial-features-provide-clue-to-autism-severity/
19 Apr 2021, 9:55 am
I don't agree with the term "myth". The clarification that the same genes called "autism genes" might be also called "brian genes" might be a statement I would agree with but at that point I think we are just talking about two different names for the same thing. In the US Autism is defined by the DSM-V which is a manual about identifying things based on "observable behavior". The current state of the art of genetics and brain imaging (and the related field of identifying the presence and quantity of certain proteins) does not allow a one-to-one correspondence with DSM-V diagnosis and any single or set of bio-markers. That being said - I think twin studies and parent - child studies currently support the idea that genetics plays a role. Increasingly the question "genetics or environment?" also stated as "nature or nurture?" is answered with "yes! both!".
More and More we find that a genetic predisposition may require a specific environmental trigger as well - so the cause from a pure "domino effect" type point of view is a combination of things - both nature things and nurture things.
My current understanding based on everything I have read makes me think of ASD (as diagnosed with the DSM) as one of several things with overlapping causes that result in a number of permanent neurological "hyper- and hypo-sensativites". This makes sense to me and matches all the data as far as I know. In some cases this can be seen as more neurological pathways and more brain volume in some areas of the brain and fewer pathways and less brain volume in others. Neural imaging and postmortems on some individuals with severe autism seems to support this. In some cases this can be seen in savant-ism, special interests or "persistent development disabilities", even mutism. In some cases this can be seen in meltdowns when the fire alarm goes off or hyper-sensativity to touch or food textures. In some cases this can be seen in emotional hyper- and hypo-sensitivities, anxiety and "overwhelm" and so-on.
One article that I read recently talked about as many as 1000 genetic sites that have been identified as increasing the probability of ASD being diagnosed. Another article identified 5 genetic sites that were in comon between ASD, ADHD, Depression, Schizophrenia (and one other that I cannot recall).
I am reminded of weather prediction and chaos theory - there are some systems which are so complex that you would have to gather information in either quantity or detail that is far beyond what we can do today - or has a level of complexity no simpler than the entire system itself - which is kind of like saying "if you want to predict this system all you have to do is simulate it - All of it - down to each and every last quantum particle" - at which point you might just as well wait and see - a model which is no simpler than the real thing is of questionable (if any) use. This is sometimes called "the butterfly effect" - the air movement from the wing of one flapping butterfly may set off a series of effects which eventually can cause a hurricane - the world weather is that complex and has hidden tipping points that such a thing can be true - which is to say perfect weather predictions will never be practical.
I really don't know if the human brain is that sort of system - and when you are talking about genetics you have to include the whole body, not just the brain. It is possible that we will never be able to predict or completely understand the human brain in general and the Autistic brain in specific - but that hasn't stopped intelligent scientist from trying - and they may some day make real progress if they keep trying - which they probably will. But even if it is "butterfly effect" complex - I still would not say that I would use the word "myth" in that context. "Too complicated to understand" is not the same (to me) as "does not exist".
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ADHD-I(diagnosed) ASD-HF(diagnosed)
RDOS scores - Aspie score 131/200 - neurotypical score 69/200 - very likely Aspie
19 Apr 2021, 10:08 am
Second, to say that "there are no autism-specific genes, only brain genes" is like saying "there are no color-blindness genes, only eye genes" or "there are no tone-deafness genes, only ear genes". If the same set of genes can be associated with autism (or color-blindness, or tone-deafness), then they can be reasonably called "Autism Genes" (or "Color-Blindness Genes, or "Tone-Deafness Genes").
Finally (and this is just my opinion), it seem to me that the author of the article may be trying to absolve genetics as a cause of autism, and instead re-focus attention on possible environmental, parental, and/or social causes for autism instead.
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19 Apr 2021, 11:13 am
rereading OP's post: the piece he quoted seems to be of the opinion genetic essays should not be available because they may be misused. The obvious counter-argument is that they should be available AND they should be used correctly.
Many people have had the experience that getting the correct diagnosis and treatment can be a long road. If professionals could have more tools to help make better decisions and make that road shorter I think that is a good thing. If what happens is that genetic essays start being used in place of diagnosis using DSM criteria - I am not sure that would be entirely a bad thing - but I expect that they will be used WITH existing DSM criteria and WITH existing psychological instruments (which resemble surveys for parents, or teachers or self to fill out - but come down to subjective opinion on how to report personal observations or behavior). I was diagnosed as dyslexic based on observation of behavior. I was also diagnosed as ADHD based on observation of behavior. Could my behavior also be used to diagnose me as ASD based on DSM-V behavioral criteria? Perhaps - but I would have to ask for that and pay for it (and spend time finding the right person who could make an official diagnosis - hopefully a person who's professional experience would help him/her make the correct diagnosis. The same kind of diagnosis happened for my DS21 (ADHD and Autism) and DS11 (ADHD). The process end-to-end took years!
I have read many articles that make statistical correlations between other people with the same diagnosis based on the same behavioral criteria (but completely different observers with different subjective variations - accidental or on purpose) and what was found on brain scans of these people, or genetic studies, or studies looking for specific proteins. But I have never had any of those tests myself. Why not? Why should this only be for studies in ivory towers? Why not make this information available to more people? How could more information result in poorer diagnosis? Are the DSM behavioral categories even the right categories - would genetic categories result in better treatment? Better self-knowledge? Less subjective categorization? I often find myself saying "if the hard science doesn't match the DSM categories - are the DSM categories even really categories?" Why not have "DSM Autism - subtype genetic anomaly X" and Why not have "DSM Autism - subtype genetic anomaly Y"? Really who would that hurt? They have already added quantitative measures to the DSM, but they are still for subjective behavioral observations.
The author of the article seems to think that people might be "fooled" into using the genetic information to get a diagnosis, but if the DSM diagnosis isn't proof from people coming to a neuropsycologist and saying "This genetic essay seems to say 'Autism' - can I be tested with your behavioral instruments" what good is the DSM?
I suppose if you look at the results of a genetic essay and say "that's good enough for me" and miss some other diagnosis - one that might save you money - or pain - or save your life that would be a down side - but I am not sure that is really what will happen - and keeping the essays off the market or keeping people from talking about them in terms of "autism genes" seems overkill to me.
Sorry this post was so long - I didn't have the time to make it shorter.
_________________
ADHD-I(diagnosed) ASD-HF(diagnosed)
RDOS scores - Aspie score 131/200 - neurotypical score 69/200 - very likely Aspie
19 Apr 2021, 3:08 pm
Twin study meta analysis
https://acamh.onlinelibrary.wiley.com/d ... jcpp.12499
_________________
ADHD-I(diagnosed) ASD-HF(diagnosed)
RDOS scores - Aspie score 131/200 - neurotypical score 69/200 - very likely Aspie
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