[HN Gopher] The Autism Phenome Project: Toward Identifying Meani...
___________________________________________________________________
The Autism Phenome Project: Toward Identifying Meaningful Subgroups
of Autism
Author : SubiculumCode
Score : 74 points
Date : 2022-01-18 18:54 UTC (4 hours ago)
(HTM) web link (www.frontiersin.org)
(TXT) w3m dump (www.frontiersin.org)
| novok wrote:
| I think ADHD and it's subtypes is probably a description of
| something like 8 different actual neurological causes, which all
| show up as 'ADHD'. I think one day we will figure out what they
| are and diagnose them separately, much like how many different
| viruses all give us cough symptoms and fevers. Wouldn't be
| surprised if other spectrum disorders show up similarly.
| esens wrote:
| > I think ADHD and it's subtypes is probably a description of
| something like 8 different actual neurological causes, which
| all show up as 'ADHD'.
|
| This is the case with I believe probably the majority of
| psychological illnesses that have not yet been nailed to a
| clear biological cause.
|
| Schizophrenia definitely has a bunch of sub-types. As does
| anxiety. As does whatever is sociopathy/psychopathy. ADHD
| included.
|
| Over time, individual types of each of these mental illnesses
| will be carved out from the general type and tied to specific
| biological causes, thus making the vague categories even
| smaller.
| TopRattata wrote:
| This was actively damaging to me; I didn't get diagnosed (and
| subsequently receive help) until I was 33 because I'm ADHD-PI
| and was only familiar with stereotypical ADHD-PH, which is very
| much NOT me. I really hope there's more differentiation
| someday.
| vintermann wrote:
| There's a tendency to for diagnoses to double duty, both as
| description and explanation. Why does he do those things?
| Because he's autistic. And why do we call him autistic? Because
| he does those things.
|
| It's especially bad for things which are defined by "at least n
| of these m things", including depression, addiction, and a ton
| of other psychological diagnoses. Are we getting any wiser from
| such definitions at all?
|
| (But there's the issue of insurance, or rationing assistance
| more generally, which compels us to keep using these non-
| explaining diagnoses.)
| whimsicalism wrote:
| There are lots of incentives at play towards making ADHD as
| vague and broad as possible.
| SubiculumCode wrote:
| This is true, because the purposes of diagnosis by clinicians
| is to help the patient.
|
| However, when it comes to research, its because delineating
| the various causes of X is very very very hard and long
| research process.
| bdamm wrote:
| The incentives are not aligned that way. It might be true
| that diagnosis helps patients, but diagnoses also helps the
| clinician by providing a patient. This is the dark side of
| mental illness research.
|
| Ideal for patients would be receiving the attention of a
| non-specialist who can be very broad in understanding what
| sequence of specialist attention is needed, when to pull
| the plug on that attention, and how to track the overall
| health and well being of a particular patient especially in
| regards to anything psychiatric. Virtually no MDs/GPs are
| going to do that.
| steve_adams_86 wrote:
| Part of this (from what I understand) is that casting a wide
| net and offering treatment can be an incredible preventative
| for children. So long as you aren't by default shoveling meds
| into the patient or telling them something is wrong with them
| (thus making false-positives almost certainly destructive
| diagnoses), a lot can be gained by guiding people with ADHD
| towards treatments.
|
| There is a staggering amount of progress and recovery to be
| made, or damage to be avoided, by diagnosing ADHD. I'm all
| for a wide net so long as people getting caught in it are
| treated properly on an individual basis.
| vintermann wrote:
| The incentive "these people clearly need help of some sort"
| isn't bad, I think.
|
| But it's bad if we have to pretend we understand something
| better than we do for people to get the help they need.
| steve_adams_86 wrote:
| I think psychologists largely admit ADHD is a bit of a
| black box. Maybe genetic, maybe not, specific individual
| treatments are required, etc. Even meds won't work
| consistently from patient to patient. That's all fine
| though because generally some awareness that there's
| something neurologically aberrant occurring is one of the
| greatest tools to help cope and strategize. This is where
| the psychologist can really shine, offering families
| insight into how to live with ADHD. Whether it be a child,
| spouse, parent, whatever.
|
| No psychologist I've spoken to or read a book from has
| claimed to have a firm grasp on what ADHD is. They even
| admit the diagnosis is very much done "by feel", requiring
| as much history and cross-reference of family and friends'
| experiences to be certain.
| pygy_ wrote:
| If dermatologists worked like psychiatrists they wouldn't be
| able to tell acne and chickenpox apart (and they'd treat both
| with face powder).
|
| One of the worse example is schizophrenia, which is attributed
| if you have at least two symptoms out of a list of five
| (meaning that people with totally distinct symptoms end up with
| the same diagnosis). There were genome-wide association studies
| in the 2010's that identified 7 or 8 distinct transcription
| factor networks with polymorphisms associated with a risk of
| schizophrenia. Every network is associated with the same
| symptoms.
|
| In other words schizophrenia is likely at least 7 distinct
| diseases that are so orphaned they don't have a name.
|
| Another example is eating disorders, where both bulimia and
| anorexia are probably underpinned by the same pathology that
| involves an auto-immune response following a cross-reaction to
| a bacterial protein that mimics a satiety hormone.
| jmcgough wrote:
| I've heard some discussion around reclassifying certain mental
| illness into clusters - things like depression and anxiety have
| extremely high levels of comorbidity.
| lindsaywaterman wrote:
| Such a meta project. Autists are splitters. Empaths are lumpers.
| oonerspism wrote:
| I'm a middle-aged adult now, but as a child I had mild autistic
| traits. Socio-economics, along with 1980's medicine, meant it was
| never picked up. I wonder if selection methods based entirely
| around childhood diagnosis may miss certain sub-groups.
|
| Author, what about the so-called 'savant' type of autistic
| person? Or even the anecdotal 'high functioning, high IQ' sub-
| group? Did your study find any evidence of these?
|
| It took until well into my 30's before my autistic traits heavily
| impacted my life. Looking back, I realised there had been a
| gradual snowball effect of oppressive environmental factors,
| incrementally pushing me further and further into "an autistic
| corner" - starting from that initial seed of childhood traits,
| but with the outcomes seeming as much developmental as genetic.
|
| Which, as an aside, seems to revolve as much around how other
| people (the world at large) treat the individual, as around
| factors internal to the autistic person themselves.
| supperburg wrote:
| I have severe schizoaffective disorder and the past three years
| of my life have been dedicated to learning more about psychiatric
| disorders. Most people have no idea just how rudderless we are.
| It's the equivalent of people thinking rickets was a failure of
| moral fiber in the olden days. We are truly, truly living in
| medieval times.
| dayvid wrote:
| I have a non-verbal little brother with autism. I've wanted to
| keep tabs on state-of-the-art autism research. This seems like a
| great entrypoint. Thank you.
| SubiculumCode wrote:
| I am a co-author. I would be pleased to answer questions.
| vechagup wrote:
| My 3 year old has ASD. I'm interested the finding about
| disproportionate megalencephaly, as his head is pretty big (but
| he's also rather tall). Suppose I wanted to see if he falls
| into the >1.5 SD cerebral volume/height bucket. Is there a way
| to meaningfully approximate it with his head circumference and
| height?
| jklinger410 wrote:
| My younger brother is diagnosed as what can currently only be
| described as "moderately functioning" autism and I cannot thank
| you enough for starting in on this very important research.
| SubiculumCode wrote:
| Thank you.
| jl6 wrote:
| Does the scope of the study include gathering data to support
| analysis of the causes of autism? e.g. parental genetics or
| environmental factors?
| SubiculumCode wrote:
| We collect a ton of information, including genetics, family
| histories, etc. We are thoroughly cursed by dimensionality.
| esens wrote:
| Is there any computer-based clustering/analysis you did of the
| individuals? Sometimes this can reveal a typology of the
| underlying root causes. Maybe you could see which cluster of
| symptoms predict others, thus suggesting root causes....
| SubiculumCode wrote:
| I am not sure what you mean by "computer-based." We
| definitely have done various types of analyses: Support
| vector machines, latent profile analysis, multivariate
| distance matrix regression, and others. The field as a whole
| is VERY in-tune with ML, clustering, etc methods...because we
| need it. Results are somewhat mixed, but this is due to lots
| of noise in the data, limited samples, and overall
| copmplexity etc.
| okareaman wrote:
| I've been diagnosed bipolar, but everything I know about my
| non-neurotypical character plus what I've observed in computer
| programmers who've been diagnosed with autism tells me that I'm
| autistic.
|
| Is it possible for autism to look like bipolar disorder type II
| (no manic psychosis)?
| guerrilla wrote:
| If it helps you, I'm diagnosed with bipolar and Asperger's.
| kayodelycaon wrote:
| I'm bipolar type 1 and I share a great many traits with
| people who are autistic.
|
| I've narrowed down the difference in our experiences into the
| same sensory processing issues from opposite directions.
|
| One example: Very broad, inaccurate terms, my friends do not
| understand other people's emotional state. I understand
| emotions very deeply but my own emotions are over-reactive
| and intense, they are useless in reading and understanding
| other people.
|
| Both my autistics friends and I have had to learn social
| skills by logic, rather than intuition.
| pvarangot wrote:
| It's possible to be diagnosed for bipolar type II together
| with a plethora of other things in the DSM that I'm not
| qualified to list. But in my anecdotal experience dealing
| with diagnoses, there's at least like five or six major
| diagnoses that sometimes co-occur with bipolar type II.
|
| If you think you fit the autism umbrella I would recommend
| you seek a specialist that is willing to work with you on
| treating those symptoms. The whole deal about this diagnoses
| is helping the people who get them, it's not just a very
| convoluted personality test or something. You have to go
| follow the path that actually helps you and others, and the
| mental health professionals job is navigating that with you.
| SubiculumCode wrote:
| Bipolar disorder and autism do frequently co-occur, but I am
| not qualified to speak about whether type II is more or less
| prevalent.
|
| One of the reasons I am interested in autism is because it
| frequently co-occurs with ADHD, BP, Anxiety disorders, and
| pretty much any and all other developmental disorders, which
| suggests that beyond "autism is a spectrum", all
| developmental disorders are also belong on that spectrum.
| DaiPlusPlus wrote:
| > autism is because it frequently co-occurs with ADHD
|
| Fun-fact: Until very recently, psychiatric handbooks
| proscribed comorbid diagnoses of ASD and ADHD - which is
| outrageous. Especially in the 1990s.
| okareaman wrote:
| > Bipolar disorder and autism do frequently co-occur
|
| Thanks for responding. I thought it was a offbeat idea of
| mine, but now I'm going to research it.
| novok wrote:
| Mental conditions can have a lot of symptom overlap, which is
| why if you have a suspicion, you should get assessed by a
| neuropsychologist, and not the simple kind of 30 minute self
| done questionnaire type, but a proper 1 to 3 day assessment.
|
| ADHD, Autism and Sensory Processing Disorder all have
| overlapping symptomology, and sometimes people can have all
| 3. You might not have autism, but you have might sensory
| processing disorder and adhd which can still effect your
| ability to socialize and make friends for example, which
| might make you think you have autism when you dont. Also if
| you dig into the DSM, you'll see that things like ADHD have
| subtypes too. If you suspect it, you should check it!
| okareaman wrote:
| > all have overlapping symptomology
|
| Yes, I did a bit of searching and it appears I may have
| both. My extreme focus and interest in computer programming
| has made me successful, but doesn't feel manic at all. It
| feels like a form of autism that I saw when I met some
| trainspotters. On the other hand, I do get manic and talk a
| lot, express a lot of far out ideas, want to spend money -
| classic manic symtoms - but I don't write very good code in
| this condition. I do and say dumb things, which my
| introverted, focused, autistic self later feels is out of
| control and embarassing.
| css wrote:
| > Gastrointestinal (GI) concerns are frequently reported by
| parents of autistic children and may be related to immune
| dysregulation (Buie et al., 2010). This is particularly
| concerning because it may be more challenging for autistic
| children to verbalize or communicate physical pain, leading to
| lack of appropriate medical care.
|
| Is this more challenging "to verbalize or communicate physical
| pain" because of the lack of understanding we currently have
| for GI-related issues? Having dealt with several GI doctors who
| just want to prescribe PPIs for everything, I am curious.
|
| The citation given seems to suggest that is the reason, but it
| isn't clear:
|
| > Gastrointestinal disorders and associated symptoms are
| commonly reported in individuals with ASDs, but key issues such
| as the prevalence and best treatment of these conditions are
| incompletely understood.
| SubiculumCode wrote:
| A large proportion of autistics are non-verbal or have
| intellectual disability. They therefore may not be able to
| effectively communicate that they are in pain. GID may be
| misdiagnosed then as other externalizing affective behaviors.
| css wrote:
| The issues are purely that of communication and not the
| lack of diagnostic tools?
| SubiculumCode wrote:
| This was not my specialty, but I think both.
| Aaargh20318 wrote:
| Is there a specific reason the study focusses on children ? As
| an autistic adult it often feels like we don't exist, most
| resources and research seem to focus exclusively on autistic
| children, as if it just disappears when we grow up.
| light_hue_1 wrote:
| Cool paper!
|
| Can I bottom line this as: there's nothing here so far, i.e.,
| there are no clinically meaningful subgroups.
|
| I don't mean this as a negative or to put down the awesome
| work, but this seems like a fair summary?
| SubiculumCode wrote:
| When I feel my most cynical perhaps, but no I don't think
| that is the bottom line of the paper. "For example,
| disproportionate megalencephaly at age 3 may provide early
| clues to parents about children who may require higher levels
| of support, or individuals with autism distinct forms of co-
| occurring anxiety may benefit from autism-specific anxiety
| interventions." The naive hope we all had was that we'd
| collect a bunch of data and identify all the important
| clusters unsupervised. Reality is that identification
| meaningful subtypes will involve examining one or several at
| a time (per grant), even if that cluster might only represent
| <1-5% of all autistics.
| BitwiseFool wrote:
| My amateur understanding is that Autism is now considered a
| spectrum. With that in mind, do meaningful subgroups map to
| range(s) on the numberline that is the spectrum? Or, are
| meaningful subgroups distinct categories that do not correlate
| to one's score?
| yed wrote:
| It's a multi-dimensional spectrum, it can't be captured
| adequately by a single number.
| jancsika wrote:
| Nonsense. Just uses bit flags. :)
| SubiculumCode wrote:
| love it.
| BitwiseFool wrote:
| I was not aware of this. About a decade ago I was diagnosed
| using a questionnaire and received a single score on a
| numeric scale from 0 to 35. I think the maximum score was
| in either the low to mid-30's, I don't recall exactly what
| it was. I don't remember what the assessment was called,
| but it was an actual standardized test given by a
| psychiatrist.
|
| I haven't kept up with the current state of understanding,
| but now I am intrigued and I wonder how I score on those
| other dimensions they now asses.
| bena wrote:
| It's probably because you scored high on several factors.
|
| Instead of one score, think of it like a cumulative
| score. You have, let's say, 7 factors all scored from 1
| to 5. If the score for being diagnosed with Autism is 21,
| for example, there are many ways to achieve that. Three
| areas with a 5 and then a single 3 in any other area
| would have you diagnosed. Similarly if you score 3 across
| the board.
|
| Basically, they're saying when you hit that minimum
| overall score, your factors put you that far divergent
| from most people that it's at least noticeable.
| SubiculumCode wrote:
| The autism spectrum may have originally been construed as one
| dimensional, from minor to profound autism. However, I would
| say now that 'spectrum' is predominately understood in the
| autism research community as meaning "diverse." Diverse
| presentations, diverse symptoms, diverse co-occurring
| symptoms, diverse lived experiences, diverse outcomes, a la
| if you've met one person with autism, you've met one person
| with autism.
|
| The Autism Phenome Project is predicated on the idea that
| there may be some underlying homogeneity so that we might
| identify clinically meaningful subgroups within the autism
| "spectrum"/"diversity", which may help us develop better
| targeted interventions, support services, etc.
|
| Great question.
| CarVac wrote:
| So in keeping with the light analogy, it's a _gamut_ then.
| gowld wrote:
| No, gamut : discrete :: spectrum : continous
| CarVac wrote:
| Since when is a gamut discrete?
| waterhouse wrote:
| I think there's a lot of history of using the term
| "spectrum" to mean a single dimension. See
| https://en.wikipedia.org/wiki/Spectrum for some examples
| and counterexamples.
|
| I suspect it will create confusion to use the same word for
| a multi-dimensional meaning, especially when there is
| preexisting literature about the "autism spectrum" that
| used the single-dimensional meaning. I think it would be
| ideal to use another term.
|
| It seems that the thing we're talking about is "a cluster
| of imperfectly correlated traits". Googling a bit, I see
| "syndrome" as one possibility (although it may carry the
| connotation of a disease, although that may be inevitable
| with autism). "Trait cluster"?
|
| (If one wants to dig into the light metaphor: The thing
| you're looking at is a beam of light. You use a prism, and
| that splits the beam into its constituent frequencies. When
| you shine the light through a prism onto paper, the
| resulting image is a spectrum. But the original light beam
| itself is not a spectrum. Thus, the most appropriate way to
| use "spectrum" in connection with autism would be for
| someone to take a test that measures several different
| traits, and then the _test results_ are the "spectrum".
| I'm not going to try to fight for that definition, though.)
| SubiculumCode wrote:
| Definitely. Scientific understanding, thankfully,
| evolves!
| neurotech1 wrote:
| A well written paper. Glad to see you included females with
| autism. Typically research papers under-represent or ignore
| females with autism, which is plain wrong.
|
| I used to work as an EEG technician, and came across some
| autistic children.
|
| Was there any consideration for using quantitative EEG analysis
| to help identify subgroups of autistic children?
| supperburg wrote:
| The quality of life of a female with Asperger's is
| dramatically higher than that of a male. My whole family has
| it and it's clear. There's something about the female brain
| that is not impacted the same way. The liberal media loves to
| ignore this and they lean in super hard on "shielding" or
| whatever where they say the discrepancy is explained by the
| fact that females just deal with it better. And the rest of
| the gap is explained by sexism, of course. It's a fucking lie
| and it's bullshit.
| sjcoles wrote:
| My wife has Asperger's and had a hell of a time getting
| bullied in school.
|
| Women with Asperger's are also more likely to get into
| abusive relationships and/or abuse drugs.
|
| You sound really angry in this comment and make a lot of
| assumptions.
|
| Do you feel that the others in your family afflicted with
| Asperger's had it easier due to their gender? Seems to be a
| bit of a sore point for you.
| brnaftr360 wrote:
| I'm interested in the neurological differences in the male
| and female brain as they relate to ASD. If we accept the
| findings in Ingalhalikar et al.[0] it seems to me like there
| is some explanatory power in the evident disproportion of
| occurrence of ASD in females. On one hand it appears the
| female connectome tends to favor a strategy of "indiscretion"
| whereas men do the opposite, instead relying on discrete
| processes. If we follow another study, they reason that the
| increased male variability in brain development may lead to
| susceptibility of certain disorders[1]. From the "purely
| neurological" pathology, is this something that might fit
| your findings? Where, if women aren't less susceptible then
| perhaps men are in terms of brain development?
|
| And then we might consider the process of socialization as
| well, which I'd expect could lead to differing outcomes on
| the nose.
|
| I don't know how extensive the issue is, or why it is, but I
| read a Wired article that indicated most pain medication
| studies focused exclusively on male subjects, and 96% did not
| compare differences between genders[2]. But also indicated
| differences in the way that pain is handled. If we
| extrapolate this into a trend, what else might we missing in
| the long run with such an oversight? Not to say that it is
| one, but if.
|
| [0] https://www.pnas.org/content/111/2/823 [1]
| https://pubmed.ncbi.nlm.nih.gov/33044802/ [3]
| https://www.wired.com/story/womens-pain-is-different-from-
| me...
| kens wrote:
| Very interesting! It looks like the paper examines
| characteristics mostly independently to form groupings. Have
| you considered examining all the characteristics at once using
| something like t-SNE to see if any new subgroups appear?
| SubiculumCode wrote:
| t-SNE is a cool technique, even if some of the parameters
| require manual judgment/tuning. I've actually been thinking
| about taking our various groupings and trying a combined
| analysis, maybe with multivariate distance matrix regression.
| One issue is that labels are not exclusive, some individual
| may belong to several.
| melissalobos wrote:
| So is it possible that autism might be more than one disease?
| Instead of a spectrum, in the future do you think that one or
| more of these subgroups would be broken out into newly
| classified diseases?
|
| For instance a significant subgroup has sleep issues and
| elevated levels extra-axial CSF. Another had significant GI
| problems. Does it seem like those subgroups may have autism
| from different causes, and maybe different diseases?
| SubiculumCode wrote:
| Hopefully this gets posted: HN often rate limits my posts.
|
| In short, yes. Autism may one day be meaningfully classified
| as different conditions that share some similar symptoms, but
| have different causes, outcomes, etc. The common symptoms of
| autism tend to be seen in high-level cognitive functions,
| that depend on a lot of subsytems, if you will. Car analogy:
| A car may exhibit the same symptom (won't start), but the
| cause can be different (out of gas or a dead battery). But
| this analogy can easily be misconstrued to mean that autism
| is about being broken. Emphatically, it is NOT. This brings
| me to a final comment of your post: Autism is not a disease.
|
| Much of the autism spectrum represents valuable
| neurodiversity that does not impact their quality of life,
| and actually provides a net benefit to themselves and to
| society by allowing diverse thinking styles and perspectives.
| However, I will venture to say that some aspects of the
| spectrum do need to be addressed like a disorder: severe
| intellectual disability, severe anxiety, these can be really
| impactful on QoL.
| melissalobos wrote:
| Thank you for your response, I really appreciate it!
|
| > Autism is not a disease.
|
| I will try to keep this in mind in the future.
| collegeburner wrote:
| This is like trying to say that because some blind people
| have improved auditory function, and because that is
| sometimes useful to society, deafness is "not a disease".
| We can have sympathy for autistics and try to make
| reasonable accomodations while also trying to cure it so
| nobody in future generations is born that way.
| Aaargh20318 wrote:
| So you're basically promoting eugenics ?
|
| My brain works different from yours, it is not a disease
| and doesn't make me disabled. Just because there are
| fewer of us than there are of you doesn't mean we don't
| have a right to exist.
| SubiculumCode wrote:
| I'd just say that it is a sensitive topic with many
| legitimate stakeholders and perspectives.
| brnaftr360 wrote:
| I've got an anecdote from a nurse that when autism was
| registered as a disability the diagnostic criterion were
| loose enough that it enabled practitioners to fudge the
| numbers in favor of the families enabling them access to the
| special needs care and support systems which would otherwise
| be crippling.
|
| If this is true, I would expect it to function as an umbrella
| describing symptoms rather than pathology.
|
| EDIT: I should clarify that I'd like SubiculumCode's input on
| this if they find it worthy of discussion.
| SubiculumCode wrote:
| There are a couple of motivations. A diagnosis of autism
| opens up support services that are often needed, one way or
| another. Therefore, I'd acknowledge there is probably
| incentives for the clinical diagnostic process to favor
| limiting false negatives. Nevertheless, when it comes to
| the gold standard of autism diagnosis (i.e. the ADOS),
| diagnostic sensitivity has increased over the years by
| zeroing in one the symptoms that autistics tend to share.
|
| The implications of this increased sensitivity has been to
| 1) autism prevalence has gone up , and 2) the average
| "severity" of autism (ADOS CSS scores) has decreased. This
| has also led to conflicts within the autism advocacy
| community: e.g. diversity vs disorder.
| hbcondo714 wrote:
| > A diagnosis of autism opens up support services that
| are often needed, one way or another.
|
| In the LA area, there's a 6-month wait list to see an in-
| network child psychologist or neurologist that can give
| an autism diagnosis. Our appointment is in March 2022 and
| therapy classes are also wait listed. We found out-of-
| network providers but they are charging from $2,500 to
| $7,000 along with a 3-month waitlist.
| phren0logy wrote:
| I'm a psychiatrist just dropping in to say thanks for doing
| this work. The current breadth of the diagnosis makes
| generalizations about treatment interventions / prognosis less
| helpful than it could be.
| SubiculumCode wrote:
| Thank you.
| cupcake-unicorn wrote:
| I'm autistic. Have you considered doing a study using whole
| geneome sequencing? I had my genome sequenced to try to get to
| the bottom of what's going on for me (outside of autism) and
| after running some data mining on it lo and behold, shows a
| very high correlation between genes associated with autism.
|
| One thing that I don't see talked about a lot is the link
| between autism and
| parkinsons.(https://pubmed.ncbi.nlm.nih.gov/26322138/) My
| maternal grandmother and mother had Parkinson's and I'm sure my
| grandmother and her sister were on the spectrum as well
| (although they didn't really diagnose that form of autism back
| then). This may link into the subtype of autism you're talking
| about though with autoimmune as my mother has celiac and I have
| HLA mutations.
|
| Also noticed you were talking Amygdala Volume , but have you
| seen this? https://pubmed.ncbi.nlm.nih.gov/28689329/ This
| really makes me think about your paper because it's linking
| specifically right sided decrease of Amygdala Volume to a form
| of autism with anxiety. This makes me think about how autism is
| often missed in girls. I'm aware of this fact because I also
| have the right sided decreased volume after uploading a Brain
| MRI here: brainkey.ai . This, along with Whole Genome
| Sequencing (I got mine done at nebula.org) could really set the
| stage for wider studies at a fairly low cost.
|
| Anyway thanks so much
| SubiculumCode wrote:
| The Autism Phenome Project has collected genetic data from
| all participants. Whole genome sequencing is starting to be
| processed. Getting funding was a bit tricky, somewhat
| surprisingly. The issue is N. We have a good sized cohort
| generally, but genetic analyses often require very large
| samples...mostly because individual genes only contribute
| small increases in risk for autism. Right now we are hoping
| to take a approach of looking for rare variants that have
| outsized effects.
|
| Autism and Parkinson's: I had not known that. My grandmother
| also has Parkinson's. Thanks for the link. I will say that
| autism is a fairly new diagnosis, and thus not many with an
| autism diagnosis are old enough yet to get obvious
| Parkinson's. However, this and other aging topics WILL be a
| very hot topic of autism research in the next 20 years.
|
| Thanks for the paper link. We think so too, at least in part.
| I point you to this paper [1], where we used Fear Potentiated
| Startle in Children With Autism: Association With Anxiety
| Symptoms and Amygdala VolumeWe have another paper that is
| under review that specifically looks at types of anxiety (DSM
| vs distinct anxiety) and amygdala development. Unfortunately,
| I don't have a shareable version yet.
|
| [1] https://www.researchgate.net/publication/347985459_Fear_P
| ote... ]
| cupcake-unicorn wrote:
| Is there any way I can contribute my WGS data? I'll request
| it on researchgate! Thanks so much! I have always had an
| insane startle response since I was a child, to the point
| that I'd scream and fall out of a chair if my parents
| entered the room and said hello when I was in the middle of
| something! From what I understand with these papers
| children are born with the decreased amygdala volume. I
| feel like the other part of it is going through life with
| severe anxiety, autism, and fearfulness and the negative
| reactions to it are just a vicious cycle.
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