#broader autism phenotype

[kiragecko]

uh just think you'd be interested in the BAP (broader autism phenotype) with regards to your youngest. like just as a concept it might interest you if you dont already know about it.

Thank you for thinking of us!

I hadn't heard the term, although the idea is familiar. If I ever need a formal way to describe what's going on with Tiny, I can see it being useful!

My extended family is all pretty familiar with neurodivergence, and the way it's a spectrum. Tiny is growing up with a knowledge that he has similar traits to the rest of us, even though he doesn't have a diagnosis.

I'm interested to know if you can think of ways that a BAP diagnosis or self-identification could be helpful.

[toomanyacronyms]

Probably gonna get hate for this, but the "broader autism phenotype" just sounds like...

... The DSM IV. With a little aspie supremacy thrown in for funsies. Specifically PDD and PDD-NOS.

[c0smicfern]

tbh i'm at the point where i'm recognizing my autistic traits, but i can't help but shake the feeling that they're just going to say i'm an HSP or have a BAP (i think i used that right?). like i certainly struggle with some of the things autistic people struggle with, but i don't know if it's enough for me to be taken seriously. which is fine. i mean, i'd probably be unlikely to receive any resources or support in the unlikely case that i am diagnosed with autism. in trying to be objective about my behaviors & how i act around people, i realize why i come across as autistic sometimes. i don't think there's enough there for a diagnosis, though. i just keep returning to the thought that i'm probably never going to get a satisfying answer on all of this. i guess we'll see.

[deslizada]

I was going to put this under a cut but I'm feeling like being mean in public so: I hate hate hate that public perceptions of autism (and adhd) have become these cute little quirks that are basically just tiktok aesthetics now. the main feature of these disabilities is that they are disordered, they are disabling, they make it near-impossible to function in "normal" society. tbh a lot of the people I see talking about how autistic they are would be broader autism phenotype at most. like I don't think they're "faking it" or whatever, I think they genuinely believe that autism is just a "spicy" way of thinking and perceiving the world. and then they make videos with titles like "top 10 peak autistic behaviors" and the "behaviors" are all just hyperfocusing on anime and playing with commercially made stim toys. and then they turn around and shit on their more disabled peers who can't shower alone or make phone calls for being "cringe". forgive me if I'm bitter but my mother almost killed me for this shit so I find it really fucking hard to put up with people who say they're sooooo autistic but would give me weird looks for compulsively talking to myself or needing something explained to me three times

[circumlocutive]

My Adderall is hitting and I just wanna shit this text post out before I start work.

I don't think there's a practical point to this kind of navel gazing at this stage in my life, and really it's more of a symptom of an issue in psychiatry with labeling phenotypic categories that don't have much correlation to biochemical mechanisms. But. I do still wonder about whether my avolition and related executive dysfunction/motivation crisis is " better " characterized as a CPTSD thing than an ADHD thing. And whether that should play a role in my expectations for functioning.

Like functionally I'm still going to treat my symptoms the same either way (it doesn't respond to CBT, DBT, or a few diff antidepressants, but does respond adequately [if inconsistently] to stimulants), so from a pragmatic angle fussing over which label is better is not useful to me. It's mostly identity wanking - unless the labels can implicate something actionable, all they really seem to do is saddle you with their sociocultural baggage.

I'd say I have evidence suggesting a genetic predisposition to ADHD traits (which I generally conceptualize based on handling in the broader psych literature as an innate/biological/"nature" [as in nature vs nurture] based thing, like the impairments are there whether or not the environment is good or bad though of course environment influences the final result). My dad is very ADHD and was long before he was a combat veteran if you listen to stories from his family, my dad was adopted bc he had a teen mom so highly likely she had something up too, and my brother is so textbook autism (and autism and ADHD genes run around skipping hand in hand) (stimulant side note these are not definitive scientific correlations I'm making here, autism looking presentation could be related to my brother being abused too and having far less social support, could be related to my mother's psychotic lineage [autism and schizo/bipolar/psychotic spec genes also run around skipping hand in hand], could be a lot of shit).

On the other hand, it is so obvious I have CPTSD (which I conceptualize as a nurture based, acquired dysfunction that does also alter your "nature" in the sense it affects your genetic expression. But while trauma will change your innate biochemical settings, I see the biggest distinction from ADHD in that cptsd wouldn't manifest without external initiation). In the narrative of my life, my current difficulty with motivation makes more sense as. Well. Something to do with living in constant fear for my life in my developmental period. How can I find anything as compelling or salient as preserving my life against a direct, explicit, and omnipresent threat. How am I supposed to give a fuck about tasks if no one is breaking plates over my head about them or depriving me of food and shelter. My whole risk reward system calibration is fuuuucked.

Realistically, I have issues with emotional regulation/motivation/self care because of the combination. I probably do have congenital neurological differences inherited from my parents, and then the extreme circumstances of my youth made for maladaptive neurological conditioning (think in the firing/electrical circuitry) + hormonal release + epigenetic changes + downstream effects that further stunted my prefrontal cortex and amygdala and striatum and whatever structures associated with emotion and reward. Some of the conditioning may be reversible with therapy/safe life experiences but the baseline performance won't be adjusted without biochemical intervention. Maybe that should play a role in setting my expectations for my performance and "improvement" over time.

Idk I have more feelings about labels and the ways they change our perception of the bio phenomena underlying "mental illness" and the self, but I need to do work instead of wasting hours getting the words out and refining them

[gorkaya-trava]

well I gave it a thought and came to conclusion that according to icd-11 (which will be adopted in russia this year I suppose) I can consider myself being on the spectrum. but! there's REALLY much trauma that stops me from figuring it out completely. maybe it's just the broader autism phenotype since I have autistic relatives, and it's really just my traumas worsening it, idk, but here we are. I just realized I experience sensory overloads that sometimes lead to shutdowns and it all made sense to me :D

[neverfakeautism]

Facial features provide clue to autism severity

by Deborah Rudacille / 20 October 2011

Boys with autism have a distinct facial structure that differs from that of typically developing controls, according to a study published 14 October in Molecular Autism1. Specifically, boys with autism have broader faces and mouths, flatter noses, narrower cheeks and a shorter philtrum — the cleft between the lips and nose — compared with controls, according to the three-dimensional facial imaging system used in the study. These distinctive features suggest that certain embryonic processes that give rise to facial features are perturbed during development, the researchers say.

The participants in the study were all 8 to 12 years old, an age range during which the face is relatively mature, but not yet affected by the hormonal changes of puberty.

The researchers used the imaging system, dubbed 3DMD, to plot 17 ‘landmarks’ or coordinates on the face of 64 boys with autism and 40 typical controls. They then measured the distance between several of these coordinates.

Boys with autism who have the most distinctive facial features cluster into two groups with very different sets of autism symptoms, the researchers found.

Boys in one group tend to have wide mouths, combined with a short distance between the top of the mouth and the bottom of the eyes. They also show severe symptoms of autism, including language impairment, intellectual disability and seizures.

By contrast, those in the second group have broad upper faces and a short philtrum. They are more likely to be diagnosed with Asperger syndrome, and to have fewer cognitive impairments and language difficulties compared with the first group.

“As a clinical geneticist, I have always been impressed by a certain facial phenotype in children with autism,” says lead investigator Judith Miles. But it wasn’t until she turned to 3DMD, developed for use by plastic surgeons, that clear quantitative differences emerged between boys with autism and controls, she says.

Those differences almost certainly reflect underlying neurodevelopmental processes, she says. “The reason to look at the face is that it reflects differences in the brain.”

Group effects:

Studies have found that children with autism are more likely than controls to have dysmorphology, or unusual physical features, of the head and skull.

Earlier this month, researchers at the University of South Alabama reported that among children referred for genetic testing for suspected autism, those who have a copy number variation (CNV), a deletion or duplication of a genetic region, are more likely to have unusual facial features than those who carry no CNVs2.

“There is remarkable etiologic heterogeneity in autism, and the use of dysmorphology phenotyping may help us come to grips with some of this complexity,” says Curtis Deutsch, associate professor of psychiatry at the University of Massachusetts Medical School, who was not involved with either new study.

Studies of facial dysmorphology in autism have generally relied on observation or tools such as calipers to pinpoint specific facial features.

3DMD instead uses multiple digital cameras to capture a 360-degree image of the head. Algorithms integrate the images to produce a single 3D image that is analyzed using special software.

This generates results that are more fine-grained than manual measurements, says Kristina Aldridge, assistant professor of pathology and anatomical sciences at the University of Missouri.

“We’re not talking about kids you would pick out on the street as looking different. These are subtle differences that are systematic, [in the range of] 2 to 5 millimeters,” Aldridge says. “It is extraordinarily precise.” She has used 3DMD to assess facial dysmorphology in children with birth defects3.

Deutsch has used the same technology in his own research. Still, he cautions that the sample size in the study may not be large enough to generate reliable results.

“It is also important to guard against performing a multitude of statistical tests without appropriate corrections,” he adds. “Otherwise differences that are reported as significant can result from chance alone.”

Researchers typically apply mathematical formulas to correct for chance associations. Miles instead used cluster analysis, which pulls together similar entities from large datasets.

This sort of analysis can produce results that are difficult to interpret, Miles says. “It will always give you something, but we had to look at whether clinical differences correlated with the subgroups identified by the cluster analysis.”

Using autism diagnostic characteristics, intelligence quotients (IQ), medical symptoms and other measures, she says, “what we found is that those two subgroups really do appear to be discrete clinically.”

The findings resonate with researchers who have studied dysmorphology in autism using less sophisticated measures than 3DMD.

For example, a team at Baylor College of Medicine in Houston, Texas, reported at the 2011 International Meeting for Autism Research in San Diego that severe autism symptoms predict the presence of dysmorphic features — albeit those not discernible to the naked eye. “The vast majority of cases [in that study] show very subtle facial differences,” says Robin Kochel, assistant professor of psychology at the Baylor College of Medicine.

The results of the new study jibe with what she sees everyday in the Autism Center at Texas Children’s Hospital, Kochel says. “Those who have more dysmorphology tend to have more problems and be more severely affected.”

References:

1: Aldridge K. et al. Mol. Autism Epub before print (2011) PubMed

2: Gannon W.T. et al. J. Dev. Behav. Pediatr. 32, 600-604 (2011) PubMed

3: Martinez-Abadias N. et al. Dev. Dyn. 239, 3058-3071 (2010) PubMed

[youzicha]

Huh, before I had only seen the "refrigerator mother" theory explained as psychiatrists were stupid because they were Freudians; it makes much more sense if they were noticing that the parents of autists had an atypical parenting style. I guess nowadays we would say it's the Broader Autism Phenotype.

[agumonger]

so uh! i took the AQ test (autism quotient) and idk how accurate it is???? do people consider it to be good? is it obsolete? ???????

but i got exactly 25 out of 50 (broader phenotype / above average). the higher the number the uh? more likely to be autistic? i think? is that even a thing? so yeah. smack in the middle, again. this is becoming a running theme

for further reference i took it as two of my ocs whom i consider to be "probably as neurotypical as you can get from me" (which in retrospect, actually not so much) and "literally meant to be read as autistic though hopefully not to a cartoony sterotypical degree": respectively, danny and elijah

danny got 15 (slightly less than the male average / straight-up allistic). elijah got 37 (right into the narrow phenotype / very high).

idek what this means i'm gonna get a snack or sth

[creativeblogwritingideas]

The Basics of DNA Methylation

DNA methylation is a fundamental epigenetic mechanism that plays a pivotal role in regulating gene expression and maintaining cellular function. Understanding the basics of DNA methylation is essential for comprehending its significance in various biological processes and its potential implications in health and disease.

What is DNA Methylation?

DNA methylation entails the attachment of a methyl cluster (CH3) to the cytosine constituent of DNA, predominantly happening at CpG dyads, where cytosine is succeeded by guanine. This alteration is facilitated by proteins termed DNA methyltransferases (DNMTs). Methylation at CpG positions has the potential to impact gene behavior by either encouraging gene suppression or aiding gene activation, contingent upon the site and surroundings within the genetic material.

Regulation of Gene Expression

DNA methylation serves as a critical mechanism for regulating gene expression patterns without altering the underlying DNA sequence. Hypermethylation of promoter regions typically results in gene repression by blocking the binding of transcription factors, RNA polymerase, and other regulatory proteins essential for gene activation. Conversely, hypomethylation of gene promoters often correlates with increased gene expression.

Inheritance and Stability

DNA methylation patterns are established during early development and are typically faithfully maintained through cell divisions, contributing to cellular identity and function. However, DNA methylation is also subject to dynamic changes influenced by various factors such as environmental exposures, aging, and disease processes. These alterations can have profound effects on gene expression profiles and cellular phenotypes.

Epigenetic Regulation

DNA methylation is a key player in the broader landscape of epigenetic regulation, which encompasses heritable changes in gene expression that do not involve alterations to the DNA sequence itself. Alongside other epigenetic modifications such as histone modifications and non-coding RNAs, DNA methylation orchestrates complex regulatory networks governing diverse biological processes, including development, differentiation, and disease susceptibility.

Clinical Implications and Genetic Methylation Tests

Understanding aberrant DNA methylation patterns is crucial for unraveling the molecular mechanisms underlying various diseases, including cancer, neurodevelopmental disorders, and autoimmune conditions. Genetic methylation tests, which analyze the methylation status of specific genomic regions, have emerged as valuable diagnostic and prognostic tools in clinical settings.

Cancer and DNA Methylation

In cancer, widespread changes in DNA methylation patterns contribute to tumorigenesis by disrupting the normal regulation of gene expression. Hypermethylation of tumor suppressor genes and hypomethylation of oncogenes are common events associated with the development and progression of cancer. Genetic methylation tests enable the detection of these aberrant methylation signatures, aiding in cancer diagnosis, prognosis, and treatment selection.

Neurodevelopmental Disorders

Aberrant DNA methylation patterns have also been implicated in neurodevelopmental disorders such as autism spectrum disorders and intellectual disabilities. Altered methylation profiles of genes involved in neuronal development, synaptic function, and neurotransmitter signaling pathways may contribute to the pathogenesis of these conditions. Genetic methylation tests offer insights into the epigenetic signatures associated with neurodevelopmental disorders, potentially informing personalized treatment strategies.

Conclusion

DNA methylation is a fundamental mechanism of epigenetic regulation with profound implications for gene expression, cellular function, and disease pathogenesis. Advances in genetic methylation tests have revolutionized our ability to interrogate DNA methylation patterns, providing valuable insights into health and disease states. Continued research in this field promises to uncover new therapeutic targets and diagnostic biomarkers, ultimately improving patient care and outcomes.

[the-itzy-bitzy-spider]

Me: autistic parent of 4

10yo: autistic

8yo twins: ADHD with wildly different presentations

6yo: some as of yet unnamed brand of utter lunacy

Roommate M: ADHD

Roommate K: broader autism phenotype

Husband: severe depression/anxiety

3 profoundly needy large dogs: bark bark bark cuddle me now

Everyone competing to have their conflicting sensory and emotional needs met at once.

Autism: If something changes, I will cry.

ADHD: If nothing changes, I will cry.

ADHD/Autism comorbity: I will cry.

[jhavelikes]

Throughout History Peripheral Minds are a way to describe the outliers of society or the Broader Autism Phenotype (BAP). And while we tend to think of these as being the minority of a population in reality, if calculations are correct, we are looking at about 60% of the population. The average personality (40%) is socially oriented. The periphery are the creative, the leaders, the explorers, the artists, the warriors and guardians.

Theory of Peripheral Minds of Autism – Peripheral Minds of Autism

[scrambles4life]

I might delete this later, but is the Broader Autism Phenotype a Thing? And, if so, how does one distinguish being BAP vs just being a bit of a social late bloomer due to longstanding social anxiety?

[thechurn]

these "highly sensitive" influencers are so funny. girl youre just autistic

[lungfuls]

Saying this as someone who started suspecting she might be autistic or similar in, like, 2016 or something. When that was a weird thing to do. Ig that both my ideas of what's "wrong" with me and my ideas of what autism "is" have become too nebulous for me to want to apply the term to myself. But it's still annoying as someone who was very interested in abnormal psychology from a young age to be confronted with so many ppl who are like, I have autism evidenced by the fact that I'm very smart. No, I have never heard of the broader autism phenotype. Yes, my understanding of autism is based solely on tiktok videos and parts of the ASD wikipedia page.

I think I was completely left behind by the zeitgeist the moment that young ppl who were developmentally normal, succeeded academically and/or professionally, and had normal social relationships started diagnosing themselves with autism. I'm like. Functionally a boomer

[onepunchman]

every time the neurodiversity accessibility conversation kicks up there are a couple of people I always think of. one of my oldest friends is a textbook adhd case at the level of severity that gets you alternating stints in detention and special ed. and one of the guys I work with who we are constantly looking to for advice because of his work experience who is also borderline illiterate due to dyslexia.

they are both people who in theory would absolutely benefit from broader societal accessibility accomodations. but a lot of people who I see engaging in the neurodiversity discussion, if they interacted with these men and weren’t previously primed with that information, would absolutely flag them as “fucking neurotypicals” (with something about white male entitlement tossed in for good measure)

when people talk about being “neurodivergent” wrt who deserves accomodation (and, conversely, implying who should yield and be accomodating) they often have a type in mind that is easily as narrow as any neurotypical’s definition of “normal person” and they are quick as karen to write off the needs, struggles and coping mechanisms of people outside that window