#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.

[saranitysstuff]

"autism isn't inherently a disability, it's a different way of processing the world" sure but some types of thinking ARE pathological and autistic processing is one of those (this is a long one)

pathological means involving, caused by, or of the nature of a physical or mental condition.* pathological doesn't not necessarily mean bad in this context, but rather the thinking is indicative of a disability (which are pathological in nature).

some types of autistic thinking** include theory of mind, weak central coherence, monotropism, literal interpretation, bottom-up thinking, and rigidity. we also tend to have variable IQ scores and subsets (IQ is pretty evenly distributed between below average, average, and above average - 38.2%, 21.8%, and 40% respectively) and we tend to have lower scores in working memory and processing speed (this isn't universal - i have a "superior" processing speed, and some autistic people might have very high subsets as well)

"why," you may ask, "is this indicative of autism? non-autistic people can have autistic thinking styles." and to that i say, you are correct! however, the extent to which the thinking domineers a persons actions and reactions, and where that thinking comes from, makes it indicative of autism. a neurotypical can have a very literal interpretation, but the miscommunications due to this are minor and do not impact their daily life. they can generally get by and realize that their interpretations of events are very literal and concrete, and adapt to change their interpretation. autistic people, however, are incredibly literal and have issues thinking abstractly. they can't just change their thinking to adapt to the environment and have difficulties communicating due to their interpretations. this also coincides with the phenomenon known as BAP (broader autistic phenotype), where neurotypicals exhibit high amounts of "autistic" thinking but do not meet the criteria for autism (due to a lack of impairment and sometimes also a lack of repetitive behavior)

"but are you arguing that autistic thinking is bad?" not necessarily. i don't think it's bad in the sense that it's wrong and needs to be cured 100% of the time, but it causes significant disability for the autistic person. i don't buy that autistic thinking is just "a different way of processing the world" ergo "it's not inherently a disability" because 1) different doesn't equal good and 2) it is inherently a disability.

let's take thinking and schizophrenia, for example. schizophrenics have distinct thinking patterns (circumstantial thinking, tangential thinking, loose associations, and clang associations) that indicate that a person has a schizospec disorder. there is a boundary of normalcy (there is no broader schizophrenic phenotype i can find, but think of someone mildly eccentric with a schizophrenic thinking pattern, but no other positive or negative symptoms) but generally, this thinking is strongly indicative of schizophrenia, especially when it causes impairment. schizophrenia is probably the most "different" way of thinking about the world than any other disorder - i mean, you literally think in a different reality. but i wouldn't say that schizophrenia is just a "difference in processing" and "not inherently a disability." do you see how silly that sounds?

"but comparing autism and schizophrenia is ableist! autism isn't like schizophrenia at all!" autism actually has a very deep history with schizophrenia. not only did it use to be a symptom of schizophrenia, it has a genetic link to schizophrenia and different types of inflammation during the prenatal period may cause autism or schizophrenia to develop. also, many negative symptoms coincide with autistic symptoms, and disorders like schizoid pd are common with ASD and also appear very similar to ASD.

i can also compare OCD thinking to ASD as well. OCD is common with autism and is also very commonly a differential for autism. OCD thinking involves repetitive thinking, obsessions, rumination, etc...which sounds similar to autistic thinking! but again, you wouldn't say that OCD isn't an disability and that it's just a different way of thinking, right?

so why would you say the same for autism? what is so different about autism that it can be classified as "just being different" when the two closest related disorders to autism and have similar thought patterns to autism (OCD and schizophrenia) ARE inherently disabilities?

"because autism makes you creative/see things differently/etc" i can think of some famous schizophrenic artists right now whose schizophrenia has influenced their work, and OCD certainly makes you see the world differently. there are some benefits to different types of thinking, however, schizophrenia isn't no longer a disability just because some people who have it find that it helps them be creative. the same thing goes with OCD and autism.

"because autism is a neurodevelopmental condition that you are born with" you're gonna be so surprised when i tell you schizophrenia is also neurodevelopmental

"because autism has helped people invent things and we wouldn't be as advanced as we are now without autistic people" 1) the notion that you have to be productive to have value is ableist 2) those inventors were not confirmed to be autistic 3) even if they were, that doesn't mean autism isn't a disability anymore because it's helped some people throughout history 4) this is autistic supremacy, where autistic people find themselves to be of greater value than neurotypicals. neurotypicals have also made important scientific discoveries, art, and inventions, science isn't just an autistic thing.

*i replaced the word "disease" with "condition" - they are both basically synonymous but one is more acceptable than the other

**SOME, not all. some autistic people have good theory of mind, but ToM has been researched extensively in relation to autism and in research autistic people tend to lack it, which is why i included it, this goes for the rest of the terms i used as well

[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

[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.

[saranitysstuff]

"this is just being autistic" just because a personality trait (because that's what hsp is supposed to be) has some autistic traits doesn't mean it's meant to be autism. you would call introversion or myers-briggs subtypes "just an ableist term for autism" despite many characteristics of those personalities (albeit pseudoscientific and just for fun) fitting MORE with autism than hsp.

differences between hsp and autism:

taking great joy in the pleasures of life is an hsp trait but not linked to autism. autistics can have this trait and might be even more prone to it, but it's not part of autism

being low maintence is basically the opposite of autism. all autistics have support needs which makes them not "low maintence" (not the word i want to use for this but you understand what i mean)

having a rich inner life is actually a characteristic of schizoid personality disorder, not autism. again, autistic people can and do have a rich imagination, but it's been documented that a lack of imagination is an autistic trait that a lot of autistics exhibit. on my assessment i was noted as having a lack of imagination, which didn't sway the opinion of my diagnosis but is a traditional autistic trait

being a perfectionist and finding conflict difficult isn't explicitly an autistic trait. lots of nuance with all of these, but autism and perfectionism aren't linked (they occur a lot in high masking individuals, but they aren't representative of autism)

avoiding violent films because they're upsetting is pretty much a trait anybody could have. not explicitly linked to autism. autism can cause high empathy, which can cause the person to avoid violent films because they emphathize with the characters, but you can find a lot of autistics who don't have empathy or autistics whom violent films are a special interest for them

preferring a small circle of friends isn't exclusively an autistic trait. i think this assumes that all autistics are less sociable, but in fact autistic people can be highly socially motivated and have a lot of friends. there might be a correlation between a smaller friend group and being autistic (having social struggles -> socializing less or only with a few people -> having few friends) but a lot of autistics have extensive friend groups and this is often due to a shared special interest

sensory sensitivity isn't exclusive to autism. you can actually find a lot of other conditions that sensory sensitivity is a trait of (ptsd and c-ptsd, schizospectrum, stereotypic movement disorder, anxiety) and in fact having sensory differences is not present in all autistics and isn't a required criteria. it's strongly associated with autism and seen as a quintessential autistic trait, but it isn't universal

having vivid dreams isn't an autistic trait. can occur with autism and could occur at a higher rate than in neurotypical populations, however, aphantasia is correlated with higher autistic traits, so it would probably be the opposite - a lot of autistic people might actually lack vivid dreams

i also think you could draw a correlation between hsp and the broader autism phenotype. however, the bap is a research term and not a disorder, and isn't considered part of the autism spectrum, so hsp would also not be part of the autism spectrum, making it not "just another word for autism"

Writing a "Highly Sensitive" Character

Sensitivity - awareness of and responsiveness to the feelings of others; susceptibility to being easily hurt or offended

Highly sensitive people (HSPs) - often show heightened sensitivity to stimuli such as loud sounds, bright lights, or strong smells. They also tend to experience deep emotional reactions, empathy for others, and may need more time to recharge after social interactions or stimulating environments.

Traits of Sensitive People

HSPs have distinct traits that could be mistaken as symptoms but do not indicate a disorder. They can include the following (Aron, 2010):

HSPs feel everything deeply and more intensely than others, whether joy or sadness, pleasure, or pain.

HSPs' high sensitivity means they take great joy in the simple pleasures in life, making them low maintenance and easy to please.

Need a lot more downtime than others, thrive in silence, and need a slower pace of life. This means taking the time to relax and process experiences is essential for their wellbeing.

Take longer to make decisions than others due to the depth of information processing involved, including conducting a thorough risk assessment and proceeding with caution.

Change can pose problems for HSPs. Even positive change may result in high levels of excitement and anxiety simultaneously due to the overstimulation caused by new experiences.

Can find handling conflict and criticism challenging, as they tend to have very high expectations of themselves and are hard on themselves when falling short. Others’ additional criticism can feel overwhelming.

Tend to have a rich inner life, being more self-aware, creative, and insightful than less sensitive people. This is likely to draw them into exploring a spiritual path in life, especially contemplative practices like meditation. They also enjoy a deep appreciation of the arts such as painting, dance, and music.

Tend to avoid the negative overarousal caused by violent films and news coverage, which almost hurts them physically.

HSPs' vulnerability to overstimulation can lead to a tendency to withdraw in new or tense situations. This can lead to them being seen as shy or unsociable when many are extroverts who just need extra time alone to process things.

Prefer a small social circle full of love and support, which they return in abundance due to their high levels of empathy. Letting another person in takes time, but when an HSP becomes your friend, they are loyal and supportive through thick and thin.

A highly sensitive person is someone who processes sensory input and emotions more deeply than the average person. This heightened awareness makes them more reactive to both external stimuli and emotional experiences.

This is a trait characterized by sensory processing sensitivity (SPS), which identifies a highly sensitive person/personality (HSP).

The term HSP was first coined by the psychologist Elaine Aron (1996), who is herself an HSP. She and her husband devised the Highly Sensitive Person Scale (HSPS), which spawned further research into the trait, including its neurobiological origins (Aron & Aron, 1997).

Before that, Carl Jung was the first to recognize the importance of sensitivity and believed that it played a more important role than sexuality in an individual’s susceptibility to neurosis (Aron, 2004).

The terms HSP and SPS are often used interchangeably. In later research, Aron (2010) differentiated the HSP trait into 4 categories.

Depth of processing. HSPs process all types of information more deeply than others, are more reflective, and take longer to make decisions (Aron, 2010). Depth of processing occurs both consciously, through analysis of information conveyed by communication in relationships, and unconsciously, through gut feelings or hunches.

Overarousability. HSPs notice a lot more than others in the same situation or environment, including other people’s emotions (although they may remain unexpressed), noise levels, smells, and other aspects of the environment (Aron, 2010). This can be advantageous but can also lead to overarousal and chronic stress.

Emotional intensity or empathy. HSPs experience strong positive and negative emotions in response to a range of pleasurable and painful stimuli (Aron, 2010). This increases their sensitivity to others’ feelings, making them very empathetic.

Sensory sensitivity. HSPs notice subtle environmental stimuli that other people miss. This can help protect them and others in their social group from unforeseen dangers but can also lead to problematic levels of sensitivity to foods, medicines, pain, noise, and light (Aron & Aron, 1997).

The combined effects of the trait result in empathic, conscientious, cautious individuals, who may also be sensation seeking and relish novelty (Aron, 2010).

There is no correlation between the HSP trait and extroversion or introversion (Aron, 2010). However, an HSP will always carefully evaluate the risks before proceeding with an adventure, as their sensitivity counters impulsivity (Aron, 2010). HSPs tend to plan ahead and are excellent strategists.

From an evolutionary perspective, HSPs may have an oracular function in social groups due to heightened intuition and sensitivity to environmental cues (Acevedo, Jagiellowicz, Aron, Marhenke, & Aron, 2017). Highly sensitive members of around 100 animal species have been identified and often warn their group of dangers undetected by others, helping to keep them safe (Aron, Aron, & Jagiellowicz, 2012).

The HSP trait is not aligned with giftedness, which comprises only 3% of the population (Aron, 1996). However, research conducted by psychologist Elke van Hoof found that 87% of gifted people are highly sensitive (Koolhof, 2020).

HSPs also have a heightened aesthetic sense, being highly sensitive to beauty in nature and the arts (Aron, 2010).

HSPs are also more disturbed by ugly or coarse stimuli than less sensitive people and avoid violent action films and news coverage (Aron, 2010). They are also more likely to have vivid dreams and have a rich inner life (Aron, 1996).

While HSPs are more distressed by negative environments than less sensitive people, they also benefit more from positive, supportive, and nurturing environments (Aron, 2010). This is especially true during childhood, but HSPs also benefit greatly from counseling and psychotherapy to overcome childhood difficulties, leading to low self-esteem (Aron, 2002).

There are cultural differences in their experiences, too. HSPs are highly valued members of societies that value reserved, cautious behavior such as China, Japan, and Sweden, but less so in bolder, competitive cultures such as Anglo-American and some European societies (Ketay et al., 2007).

Smolewska, McCabe, and Woody (2006) conducted a factor analysis of the HSPS and found it comprises 3 distinct factors:

Awareness of aesthetics (AES)

Low sensory threshold (LST)

Ease of excitation (EOE)

Further analysis from Smolewska et al. (2006) found that higher AES indicators bestow more positive outcomes of the trait, including a more intense perception of subtleties and empathy, while higher LST and EOE scores tend to indicate more neurotic outcomes, such as anxiety, social withdrawal, hypervigilance, and overarousal. 

Sources: 1 2 ⚜ More: Writing Notes & References ⚜ Writing Resources PDFs

[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.

[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?

[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

[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

[sayitwithsarcophilus]

How much of why I’m Like This is BAP*, and how much is that I was raised by a Norwegian-American nerd who considered being a bit undemonstrative and pedantic a sign of moral seriousness?