#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.

[weirdstrangeandawful]

I feel like they need to either put BAP in the DSM or fully roll it into ASD (I genuinely don’t know what’s best) because the current state of things is wildly unsustainable.

They literally tell you ‘hey, here is a list of areas where you could benefit from support but you can’t access that support because tou don’t have a diagnosis’. Honestly, the fact that good psych professionals have to scramble to find you another diagnosis (like LD or ADHD or anxiety or PTSD/UTSRD/DESNOS) just so you can access accommodations in school and work and home.

I should be clear that these psychiatrists/psychologists aren’t making up diagnoses here. They will diagnose these only if you do present with the symptoms but they will have to strategically choose to interpret symptoms that are part of BAP as part of something they’re not. Average or bad psych professionals will just leave you with nothing and those people get left behind.

This is not at all to say that we’re just like autistic people and now feel excluded and need to be included. This is entirely about accommodations and the ability to not only access them (which may be solved by reducing barriers) but more importantly to identify what’s needed. Because I was diagnosed with an LD instead of BAP (which, again, is not a diagnosis currently), my accommodations for years and years and years just made things worse. Do I have an LD? absolutely. I have several. But many of the symptoms being attributed to them simply would not be resolved with an LD accommodation but would be manageable by handling other BAP symptoms. I shouldn’t have to solve a Famous Trick Donkeys puzzle to figure out how to explain why I need accommodations.

It’s also about the ability to find resources. I don’t mean random other people on tumblr. I mean I should be able to go to a website and see my symptoms represented and realistic ideas about the accommodations I need. It doesn’t have to be a big flashy network. Just a back page of an ASD website would do or an independent published html file; I don’t care. I shouldn’t have to go on sites that explicitly deny that I exist just to figure out what accommodations could be available.

I don’t parade it around like a badge of honour; I just want to hold down a job…

[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.

[exteenpopstar]

like, i firmly believe the epidemic of people claiming higher support needs than they actually have is almost entirely due to the use of "LSN" to mean "autistic person who isn't really disabled / doesn't actually have any autistic traits"*, in the tradition of "high-functioning" (now that latter term is verboten). more generally, it has to do with the widening of the dx to people who would previously have been considered maybe broader autism phenotype. people are just trying to explain that they do in fact have autism, and don't know how to refer to it except by saying "higher support needs". it's incorrect and very annoying but i do sympathize with the problem

[autismaccount]

I have another survey about autism! I'm curious about birth circumstances.

Neonatal and natal circumstances -- like if someone was born preterm, if they didn't get enough oxygen while being born, or if their parents were older -- is thought to make autism more likely. Autism is genetic, but birth circumstances might be what pushes someone from a subclinical "broader autism phenotype" presentation into an autism spectrum disorder. Additionally, some of the genetic causes of autism can make difficult births more likely.

I'm curious if that patterns of more difficult births for autistic people is also true for people on Tumblr and if it's more likely to be the case for people who have higher support needs.

Anyone is welcome to fill out this survey! In order to have a comparison group, I'd also love to get responses from people who don't have autism as well as people who aren't sure if they have autism. Parents are also welcome to fill out this survey on behalf of their kids because parents often know best about birth circumstances.

[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

[parasolids]

more oc thoughts on cal's parents:

ellie (eleanor) schroeder, his mother, wants it all and she's irritated that she can't have it. she's a bit impulsive and relentlessly optimistic. class valedictorian in high school but also a bit awkward. i think she’s maybe within the broader autism phenotype (not aware of this) and has an autistic sibling. bit spacey, but comes off both professional and friendly. pretty stressed internally and doesn’t know how to open up. has a lot of siblings

daniel dovelin is a very, very lucky trainwreck of a person. kind of a slack off in high school. not really by choice he was just sick. excelled in college mainly just by having a better personality than most computer science students, and by being very good at partial credit. very outgoing, but also internally a total mess, which makes him very reckless, which made him very fun at parties in college. ellie fell in love with his spontaneity and chaos, and he’s surprised she stuck around even after finding out how glum he was under that. total wife guy. having kids has sobered him up. a lot. he’s a lot more even keeled than he was in his youth but still retreats into himself sometimes. cal inherited both his looks and his temperament

(sometimes daniel feels scared looking at cal because he sees so much of himself in them. especially when things are bad for cal. sometimes daniel tries to pull cal out of his room and into the kitchen for a proper meal. he opens the door and sees his own 20 year old self, asleep at 2:30 pm in the same clothes he put on three days ago)

they met in college, both computer science students, and were pretty serious by graduation. both of them had seen each other through some chaos by then, and it didn't take long for them to get married after graduation - both scored good jobs in tech, and they knew they were comfortable enough to spend the rest of their lives together. not a fairytale, but as far as relationships go, they have it pretty good - they still adore each other even when their kids are adults lol

cal's younger sister (who currently has no name) is adopted. i'm still working out the details, but i'm thinking she was born to recent US immigrants who weren't on good terms with their family back home. by this time, cal is around two, daniel and ellie have been married for maybe 5 years? and both work at the same company at a FAANG level tech company, something no longer a startup that often requires long workdays.... okay now that i think about it i'll have to figure out the childcare situation, but anyways they all know each other from work. cal's met his sister (who is an infant at this time) since his parents are pretty close with hers. when both parents pass away in a car accident (their daughter at home with a babysitter), nobody knows what to do with the kid.

ellie is a bleeding heart and the kid has nowhere to go. daniel was hesitant to have a kid in the first place - not out of a dislike of children, but out of fear of ruining that kid with his genetic family curse and the fact that he is himself a trainwreck. he and ellie both have days where they're paralyzed with fear, having absolutely no clue what they're doing with this kid they popped out. but this baby has nowhere else to go. who else is going to take her in?

[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

[0scill4te]

.

me when my therapist (whom im not gonna see anymore bc trauma therapy makes me worse) told me she thought i had autism .. lawl.

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so many damn people think i have it, i had school counselors urge my parents to get me assessed. even i used to be convinced untiI i used critical thinking and realized me being socially behind is more likely a result of my negligent upbringing than having a developmental disorder. Likr sure, it could be possible but its not something im even interested in finding out. The assessment is rigorous, and costs money and its not like you get accommodations in the workplace if you have it, so what would be the point? (Clarity i guess, but im so critical of assessments in general and their accuracy) . I still dont understand why my T thought that about me (then said she doesnt believe I struggle with something else Im sure I do have... thats off topic tho). it annoyed me when my T said this so confidently, bc she doesn't even specialize in developmental disorders...

I believe in BAP (broader autism phenotype) where if you have autistic family members, you may outwardly adapt some of their traits and mannerisms without actually being diagnosable as autistic yourself. but BAP is just a theory and not a proven thing 😉 but if its real i think thats whats going on with me lol.. i just adapted a lot of their behavior bc they raised me. Some ppl on one side of my family definitely has a touch of the tism for sure... undeniably so.

[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.

[wildchives4]

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

[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

[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