Warning about new study to find a potential cure for autism
A recent study published in Nature Neuroscience claims to have found a potential cure for autism.
For those with access to the article behind the paywall, some notable quotes include (my bolding):
To achieve clarity regarding SYNGAP1 function in distinct types of cortical progenitor would require extensive characterization and lineage-tracing approaches5, which should be pursued in future studies in organoids and animal models. Additional important future directions include the identification of SYNGAP1 isoforms involved in this early developmental function of SYNGAP1 and a complete profile of SYNGAP1 expression dynamics across different developmental stages. These future insights will help to inform the design of therapeutic interventions to rescue SYNGAP1 function in individuals with SYNGAP1-related disorders.
Even in the original study, the language is very clear on that neurodivergence is seen through a lens of pathology. It refers to neurodivergence as a disease and as a disorder (neurodevelopmental disorders, NDD) and the genes associated with ASD as "risk genes".
I can't comment on the actual details of their findings since I am not a neuroscientist, but the phrasing of the paper makes it evidently clear that they're looking for a cure for autism. The paper repeatedly mentions autism but only briefly other associated developmental effects such as intellectual disability (whatever this now means, since anything from having a below average IQ to dyslexia are considered intellectual disabilities) epilepsy, neurodevelopmental disability and global developmental delay.
When you check for information about the authors of the study, you for example find this interview: https://stemcell.keck.usc.edu/marcella- ... oi-fellow/
“For me, this work is even more important, because you can see the effect that you might have on the life of these small children,” she said. “So if you really understand what’s going on, and if you hopefully find a way to treat these problems, you could actually change the future of many people that still have years and years in front [of them] to live.”
She clearly has a very ableist and eugenicist mindset on neurodivergence, which is heavily reflected in how she phrased her findings in the paper. Nature notes that Marcella contributed equally to Ashley Del Dosso, but Ashley is a medical writer and likely only helped proof write the paper without contributing to the actual content/findings.
With all that said, I don't think Marcella is necessarily a bad person, but I also don't think she's reflected on how her perspective is harmful to the neurodivergent experience, and strikes me very much as someone with a white savior complex similar to how white Europeans thought they were saving the locals on other continents by converting them Christianity. The paper is even lauded by the Chief Editor for trying to find a cure.
I am not sure how one can mobilize to spread awareness of how harmful this narrative is to the neurodivergent community beyond trying to inform others that some tabloids have picked up news about these articles and are spreading them around as fact. I don't have any connections to advocacy groups or other influential people, but if you do, please make them aware of this paper and how Nature is spreading this incredibly harmful narrative about autism.
It's so striking how this sort of research is still considered acceptable for neurodivergence but would be unthinkable if it was about LBGTQ children, because you can be sure as hell that there are many parents out there who wish they could cure their children to not be gay or trans, too.
Finally, I want to make clear that while I think it is good to research about neurodivergence, it could be spent on actually trying to understand the autistic experience and focus on how society could become more accommodating, not to find a cure.
For those with access to the article behind the paywall, some notable quotes include (my bolding):
To achieve clarity regarding SYNGAP1 function in distinct types of cortical progenitor would require extensive characterization and lineage-tracing approaches5, which should be pursued in future studies in organoids and animal models. Additional important future directions include the identification of SYNGAP1 isoforms involved in this early developmental function of SYNGAP1 and a complete profile of SYNGAP1 expression dynamics across different developmental stages. These future insights will help to inform the design of therapeutic interventions to rescue SYNGAP1 function in individuals with SYNGAP1-related disorders.
Even in the original study, the language is very clear on that neurodivergence is seen through a lens of pathology. It refers to neurodivergence as a disease and as a disorder (neurodevelopmental disorders, NDD) and the genes associated with ASD as "risk genes".
I can't comment on the actual details of their findings since I am not a neuroscientist, but the phrasing of the paper makes it evidently clear that they're looking for a cure for autism. The paper repeatedly mentions autism but only briefly other associated developmental effects such as intellectual disability (whatever this now means, since anything from having a below average IQ to dyslexia are considered intellectual disabilities) epilepsy, neurodevelopmental disability and global developmental delay.
When you check for information about the authors of the study, you for example find this interview: https://stemcell.keck.usc.edu/marcella- ... oi-fellow/
“For me, this work is even more important, because you can see the effect that you might have on the life of these small children,” she said. “So if you really understand what’s going on, and if you hopefully find a way to treat these problems, you could actually change the future of many people that still have years and years in front [of them] to live.”
She clearly has a very ableist and eugenicist mindset on neurodivergence, which is heavily reflected in how she phrased her findings in the paper. Nature notes that Marcella contributed equally to Ashley Del Dosso, but Ashley is a medical writer and likely only helped proof write the paper without contributing to the actual content/findings.
With all that said, I don't think Marcella is necessarily a bad person, but I also don't think she's reflected on how her perspective is harmful to the neurodivergent experience, and strikes me very much as someone with a white savior complex similar to how white Europeans thought they were saving the locals on other continents by converting them Christianity. The paper is even lauded by the Chief Editor for trying to find a cure.
I am not sure how one can mobilize to spread awareness of how harmful this narrative is to the neurodivergent community beyond trying to inform others that some tabloids have picked up news about these articles and are spreading them around as fact. I don't have any connections to advocacy groups or other influential people, but if you do, please make them aware of this paper and how Nature is spreading this incredibly harmful narrative about autism.
It's so striking how this sort of research is still considered acceptable for neurodivergence but would be unthinkable if it was about LBGTQ children, because you can be sure as hell that there are many parents out there who wish they could cure their children to not be gay or trans, too.
Finally, I want to make clear that while I think it is good to research about neurodivergence, it could be spent on actually trying to understand the autistic experience and focus on how society could become more accommodating, not to find a cure.
Some points:
1. There is no such thing as a single condition called “autism” its an old fashion word used to describe many things that have just a few behaviour things in common.
2. As the article suggests this is a discovery regarding the SYNGAP1 gene. Well, what about the SHANK3 or CHD8 autism, or "autisms" that cause not yet discovered?
Think of a Venn diagram with different autisms all converging on what makes up the DSM5 criteria. The convergence is not the whole condition rather the rest of the individual circle is. This is why some “autisms” have ID, Epilepsy, psychosis, dyspraxia and a horror board of mental heath conditions. While others are mild & may include high intelligence.
Your pain receptors will still give you a headache whether you have a brain tumour or drunk too much alcohol the night before. The headache converges on the Venn diagram as a symptom of recent excessive alcohol consumption & a symptom of a brain tumour. A cough symptom converges with a brief cold & lung cancer. So, autism is just the symptom of that individual condition or gene mutation.
So, the conclusion is it’s ridiculous to talk about “autism” as one condition, when it’s hardly a condition, rather a part symptom of a bigger individual genetic condition effecting other things. Sometimes those other things are life destroying like ID , epilepsy or life threatening, i.e some genetic conditions causing autism may cause heart conditions too.
https://www.researchgate.net/figure/Ven ... 2_47508443
3. What is described as “autism” is considered a pathological disorder by science this can be seen on the genetic level zooming in, just one example i.e. 15q11.2 disorder, when it is deleted or duplicated usually causes autism symptoms. Its rather obvious that this gene should not be duplicated or deleted any more than you should be born without a nose. Zooming out the disability or pathology can be clearly seen as an event / consequence. This is not a natural diversity anymore than missing a nose is a natural diversity. This is the same with all gene related “autisms”. The pathology is visible in the gene and in the person in the form of disability
4. Although not all, I and many other autistic people want a cure for their autism
5. As seen during the COVID vaccination debate there is a general consensus in gov & the public that people shouldn’t be forced to have a medical procedure. If this applied to a contagious disease then it certainly applies to a non-contagious brain condition that varies from severe to invisible.
So while people should have the right to refuse treatment, those that do have no right to get in the way of others that want treatment. This is the general view shared across society for these things.
A classic example of this:
Vaccines - Unproven Medical beliefs against personal medical choice
Abortion - Religious & moral objections against women's right to chose
Blood Transfusion - Religious objections among Jehovah's Witnesses overruled in favour of personal choice
As the old saying goes your right to swing your fist ends at someone else’s nose
6. Neurodivergence or the government / science interpretation of neurodiversity simply means providing fairness, accommodations & opportunity to those with different brain conditions, it doesn’t ignore the fact that in many or all cases they are still pathologies that require a medical solution, depending on severity of impairement i.e. ADHD drugs.
7. The LGBT comparison commonly comes up. Being gay is not a disability in the sense that it prevents someone leading an autonomous life. It was once a psychiatric condition because those medical books were written more than a century ago when the church was quite powerful and influential. We all know the bible says being gay is a "sin",
because of that being gay was made illegal, so it was quite naturally included as a psychiatric condition. As society became more atheist & secular, it was generally realised that it should be legalised & it was eventually removed as a medical condition. There is no comparison with autism which can be a real disability
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As far as ableism/pathologizing goes individuals and governments only give money to researchers if they perceive there is a problem to be solved so the language researchers use is often going to reflect that mentality. When it doesn’t it is often just the researcher trying not offend. An example is using “treatment” as a euphemism for cure.
Carlos brought up the acceptance of choice with the COVID vaccines. That is now. That is not how it was at the beginning. People that refused the vaccine were fired, banned from a lot of places, and generally stigmatized as conspiracy theorists. What changed? Most vaccinated people got COVID anyway hurting credibility. These days for the most part COVID creates short term mild impairments. Autism(s) sans treatments or cure the “impairments” would be permanent. So in my opinion people who refuse treatments or cures will be viewed as mentally ill. An argument against that is unlike COVID Autism is not contagious.
If this happens we are going to find out how much NT autism acceptance is real and how much is just them making the best of a perceived bad situation.
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“My autism is not a superpower. It also isn’t some kind of god-forsaken, endless fountain of suffering inflicted on my family. It’s just part of who I am as a person”. - Sara Luterman
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I'm not sure that's the only motive.
Personally, I'd love to be able to have executive function and emotional regulation that falls within the normal range, instead of constantly feeling like a 13 year old who's responsible for an even younger person who might become out of control at a moment's notice.
Throw in a closer to average degree of social fluidity and I'd probably find life a lot easier.
Those aren't improvements for other people, those are improvements for me so I can stop playing life on Nightmare! difficulty.
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Let’s have a look at the other delightful symptoms associated with SYNGAP1 mutation for this particular type of autism caused by this gene mutation:
https://curesyngap1.org/what-is-syngap1/
Intellectual Disability
Epilepsy
Visual Abnormalities
Gross & Fine Motor Skills problems
Then inconclusive but not positive either life expectancy:
https://curesyngap1.org/blog/whats-the- ... h-syngap1/
Next a brief explanation into the pathology or "neuro type difference" helpful in the pathology/ neurotype debate:
So in layman's terms something that should work not working - Seems quite simply a pathology to me
So, assuming many in the ND movement don’t have these disabling symptoms or gene disorder, they seem very concerned that those that do might get some treatment to alleviate their problems, presumably because they share the same loosely named umbrella condition and any so-called treatment may offend their identity.
So unsurprisingly we have those in ND movement with probable medical privilege, possibly against helping those less fortunate than themselves for self-serving reasons.
Most of the anti-cure reasons given by the ND movement are usually Strawman or other fallacy arguments.
These are the weakest positions in debates and they nearly always lose in legal cases as they lack any cohesive link with the subject matter and are usually more about some internal emotional plea to some subjective higher moral authority.
When debating homosexuality or contraception the church had God & still lost, i`m not sure what the ND movement has or is appealing to, some examples along with a guide:
https://www.youtube.com/watch?v=wwUe7T2OKQE
1. If there`s a cure ill be forced to take it: This is a strawman argument as there is no cure & never been a proper medical debate on what would ever happen if there was one.
However, laser eye surgery has been out for decades with only a few takers, there’s plenty of obese people around despite bariatric surgery. Cochlear implants were rejected by many deaf people and of course there`s vaccines.
2. It would change how i think: This is a fallacy argument as there is no cure so how would they know? They may as well say it would turn people into flesh eating zombies or end life on earth. Then again it may simply enhance cognitive ability, as it would be designed to do.
3. It would be dangerous or harmful for the person: This is a fallacy argument as there is no cure so how would they know? presumably it would be FDA approved & tested anyway.
4. I would be a different person: This is a fallacy argument as there is no cure or examples, so how would they know? Humans are not hard drives that can be wiped clean, rather our life memories are made up of neural links that would be impossible to remove and would remain intact.
Rather more likely any genetic changes would lead to the production of a deleted protein or enzyme that was missing alleviating disability and allowing for smoother and clearer brain messaging, for example maybe produce more SynGAP protein as in the example, thus enhancing what was there before rather than taking anything away.
5. Autistic Identity: This is subjective since an identity can be whatever the person choses it to be, for some its their football team, for others their gender. Not everyone see’s their autism as their identity and those that do how does what other people do affect that anymore than being a man and the person down their street being trans & wanting to be a woman. Does it make them somehow less manly if another man choses to be a trans person? no.
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"The reasonable man adapts himself to the world; the unreasonable one persists in trying to adapt the world to himself. Therefore all progress depends upon the unreasonable man."
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I don't have the time or resources to write a more cohesive response right now, but especially with regards to being a trans person, it can be very mentally debilitating. Not necessarily because of problems typical for autism, but if you ask any trans person suffering from massive dysphoria, they'd say they would rather be reborn with the right body in a heartbeat.
I think it's disingenuous to try to compare different kinds of suffering and to suggest that some suffering is more valid than other kinds.
I also think there's a big difference in trying to cure autism in utero compared to providing medical support. It's notable that the study I cited is interested in the former, not necessarily the latter. We know it's interested in the former because of the language being used to phrase the causes of autism.
I think it's disingenuous to try to compare different kinds of suffering and to suggest that some suffering is more valid than other kinds.
I also think there's a big difference in trying to cure autism in utero compared to providing medical support. It's notable that the study I cited is interested in the former, not necessarily the latter. We know it's interested in the former because of the language being used to phrase the causes of autism.
Well autism can be mild, if they are ok with their autism or against a cure or treatment for themselves, its fair to say they are not "suffering" in a significant or painful way, either that or they are fearful of what a cure would entail.
At the end of the day its really about personal choice, nobody cares what people do or believe in until in infringes on them.
If someone likes their autism, lets celebrate that good for them, but trying to somehow ban or restrict potential treatments for those who want it or have severely disabling symptoms is not on.
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It's eugenics, plain and simple. I had to talk to another friend of mine about this exact issue earlier this month, he didn't have a clue why the autistic folks in the group chat immediately recoiled at the mention of it.
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It helps to know what eugenics is as words get thrown around.
Eugenic's is about parents.
Matching certain parents for qualities you want to see in the child.
This happens naturally anyway it’s called natural selection
There’s also the dark eugenics of sterilising adults to prevent them from having children because they have something you don’t want to see in the population.
It has nothing to do with medicine, treating or curing anyone. Since eugenics is about avoiding such a thing in the first place.
There is however a byproduct of the push for diagnosis for those with mild autism.
It’s not something I’m against but a fact is still a fact and the fact is autistic men and many women generally are very unlikely to find a partner and have children.
Men that may have otherwise have been thought of as being a bit eccentric but still gone on to meet someone and have kids are now being labelled as having a brain disorder.
That man is identified and women then know to avoid a relationship with him if they want a NT child.
To double down on all this the ND movement is encouraging the identification and celebration of autism in society so autistic people are further encouraged to come out and be “identified.”
This is of course a double edged sword with benefits to autistic people but it also allows us to be easily avoided by potential partners so they can increase their odds of having a NT child
I would imagine a eugenicist would be very pleased and support the ND movement, increased diagnosis and identification. They certainly wouldn’t be interested in curing anyone.
https://my.clevelandclinic.org/health/t ... al-surgery
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It has nothing to do with medicine, treating or curing anyone. Since eugenics is about avoiding such a thing in the first place.
While that is traditionally how eugenics has been defined how does gene editing which can happen after birth fit into the equation? The ultimate goal is no Autism(s). Does it matter if this happens before or after birth?
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“My autism is not a superpower. It also isn’t some kind of god-forsaken, endless fountain of suffering inflicted on my family. It’s just part of who I am as a person”. - Sara Luterman
It has nothing to do with medicine, treating or curing anyone. Since eugenics is about avoiding such a thing in the first place.
While that is traditionally how eugenics has been defined how does gene editing which can happen after birth fit into the equation? The ultimate goal is no Autism(s). Does it matter if this happens before or after birth?
Yes it does eugenics happens before conception.
It also has nothing to do with curing or treatment since the original definition of eugenics is to choose parents or sperm and eggs to avoid negative things and enhance natural characteristics.
There were eugenics fears gene editing could create designer babies which would be eugenics but again that is before birth and even conception.
If you extend the definition to treatment and curing things as in the previous link I gave of surgery in the womb you just end up sanitising the word.
Where does it stop is curing any disability eugenics, what about giving pregnant women vitamins, cod liver oil for intelligence.
What about IVF do they pick the best sperm in fertility treatment or do it randomly?
Before you know it eugenics starts looking like a good thing which is not something people generally want to happen.
https://www.dictionary.com/browse/eugenics
https://dictionary.cambridge.org/dictio ... h/eugenics
https://www.collinsdictionary.com/dicti ... e_vignette
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"The reasonable man adapts himself to the world; the unreasonable one persists in trying to adapt the world to himself. Therefore all progress depends upon the unreasonable man."
- George Bernie Shaw
That man is identified and women then know to avoid a relationship with him if they want a NT child.
Call me cunning but I don't walk around showing my medical records or tell my diagnoses to the women I meet. Problem solved.
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ASPartOfMe
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It has nothing to do with medicine, treating or curing anyone. Since eugenics is about avoiding such a thing in the first place.
While that is traditionally how eugenics has been defined how does gene editing which can happen after birth fit into the equation? The ultimate goal is no Autism(s). Does it matter if this happens before or after birth?
Yes it does eugenics happens before conception.
It also has nothing to do with curing or treatment since the original definition of eugenics is to choose parents or sperm and eggs to avoid negative things and enhance natural characteristics.
There were eugenics fears gene editing could create designer babies which would be eugenics but again that is before birth and even conception.
If you extend the definition to treatment and curing things as in the previous link I gave of surgery in the womb you just end up sanitising the word.
Where does it stop is curing any disability eugenics, what about giving pregnant women vitamins, cod liver oil for intelligence.
What about IVF do they pick the best sperm in fertility treatment or do it randomly?
Before you know it eugenics starts looking like a good thing which is not something people generally want to happen.
https://www.dictionary.com/browse/eugenics
https://dictionary.cambridge.org/dictio ... h/eugenics
https://www.collinsdictionary.com/dicti ... e_vignette
It is still using genes to potentially get rid of autism. A lot of words greatly expand from their original meanings. We will see.
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DSM 5: Autism Spectrum Disorder, DSM IV: Aspergers Moderate Severity
“My autism is not a superpower. It also isn’t some kind of god-forsaken, endless fountain of suffering inflicted on my family. It’s just part of who I am as a person”. - Sara Luterman
It has nothing to do with medicine, treating or curing anyone. Since eugenics is about avoiding such a thing in the first place.
While that is traditionally how eugenics has been defined how does gene editing which can happen after birth fit into the equation? The ultimate goal is no Autism(s). Does it matter if this happens before or after birth?
Yes it does eugenics happens before conception.
It also has nothing to do with curing or treatment since the original definition of eugenics is to choose parents or sperm and eggs to avoid negative things and enhance natural characteristics.
There were eugenics fears gene editing could create designer babies which would be eugenics but again that is before birth and even conception.
If you extend the definition to treatment and curing things as in the previous link I gave of surgery in the womb you just end up sanitising the word.
Where does it stop is curing any disability eugenics, what about giving pregnant women vitamins, cod liver oil for intelligence.
What about IVF do they pick the best sperm in fertility treatment or do it randomly?
Before you know it eugenics starts looking like a good thing which is not something people generally want to happen.
https://www.dictionary.com/browse/eugenics
https://dictionary.cambridge.org/dictio ... h/eugenics
https://www.collinsdictionary.com/dicti ... e_vignette
It is still using genes to potentially get rid of autism. A lot of words greatly expand from their original meanings. We will see.
People are using 20th century terms and trying to apply it to something completely different.
Curing disability in general in the person is not classed as eugenics , although removing an autism gene in the parents prior to conception maybe is, although the latter would probably be justified as personal choice again if it was voluntary.
It’s the “D” or “C” in ASD /ASC i.e disorder / condition
Curing autism is no different from curing Spina Bifida or Schizophrenia
Gene editing / research is a billion dollar business.
For the disabled person it exists because it’s legal however eugenics is not.
Because they are different things.
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ASPartOfMe
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It has nothing to do with medicine, treating or curing anyone. Since eugenics is about avoiding such a thing in the first place.
While that is traditionally how eugenics has been defined how does gene editing which can happen after birth fit into the equation? The ultimate goal is no Autism(s). Does it matter if this happens before or after birth?
Yes it does eugenics happens before conception.
It also has nothing to do with curing or treatment since the original definition of eugenics is to choose parents or sperm and eggs to avoid negative things and enhance natural characteristics.
There were eugenics fears gene editing could create designer babies which would be eugenics but again that is before birth and even conception.
If you extend the definition to treatment and curing things as in the previous link I gave of surgery in the womb you just end up sanitising the word.
Where does it stop is curing any disability eugenics, what about giving pregnant women vitamins, cod liver oil for intelligence.
What about IVF do they pick the best sperm in fertility treatment or do it randomly?
Before you know it eugenics starts looking like a good thing which is not something people generally want to happen.
https://www.dictionary.com/browse/eugenics
https://dictionary.cambridge.org/dictio ... h/eugenics
https://www.collinsdictionary.com/dicti ... e_vignette
It is still using genes to potentially get rid of autism. A lot of words greatly expand from their original meanings. We will see.
People are using 20th century terms and trying to apply it to something completely different.
Curing disability in general in the person is not classed as eugenics , although removing an autism gene in the parents prior to conception maybe is, although the latter would probably be justified as personal choice again if it was voluntary.
It’s the “D” or “C” in ASD /ASC i.e disorder / condition
Curing autism is no different from curing Spina Bifida or Schizophrenia
Gene editing / research is a billion dollar business.
For the disabled person it exists because it’s legal however eugenics is not.
Because they are different things.
People apply old terms to different things all the time. One example is “gay”.
The term “consumer eugenics” has been coined to describe abortions done based on what genetic tests determine the fetus will have.
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Professionally Identified and joined WP August 26, 2013
DSM 5: Autism Spectrum Disorder, DSM IV: Aspergers Moderate Severity
“My autism is not a superpower. It also isn’t some kind of god-forsaken, endless fountain of suffering inflicted on my family. It’s just part of who I am as a person”. - Sara Luterman
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