[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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