EPISODE 5

Slipping Through the Spectrum

Dr Hannah L. Belcher, Lecturer in User-Led Research, Health Service and Population Research, IoPPN, King's College London ; Dr. John N. Constantino, MD Liz and Frank Blake Chair for Children’s Behavioral and Mental Health,Chief, Center for Behavioral and Mental Health, Children’s Healthcare of Atlanta and Professor of Psychiatry & Behavioral Sciences, Pediatrics, and Genetics, Emory University

IN THIS EPISODE

Rethinking the Divide in Autism Diagnoses

Dr. Hannah Belcher was already studying autism she found out she herself was Autistic. Getting her diagnosis felt like everything suddenly clicked… but why did it take so long to get answers?

In this episode, Hannah shares her journey and talks about how many Autistic people, especially women, learn to mask their true selves to fit in– causing them to slip through the diagnostic cracks. Then, we invite Dr. John Constantino to break down the genetic underpinnings of Autism Spectrum Disorder and related conditions like ADHD—and how science is shaking up the genomic picture of what we thought we knew about this male-female bias.

From outdated theories to “refrigerator mothers,” join hosts Dr. Kaylee Byers and Dr. Rackeb Tesfaye as they comb through the tangled web of sex bias and ask whether our current methods of studying neurodiversity is actually addressing the questions the people with ASD want answered?

A Note on Language:

When talking about Autism – semantics matter. So, it’s important to recognize the nuances of language. Many people in the Autism community prefer identity-first language, such as “Autistic person,” as it centers Autism as a core part of their identity. Others, however, may prefer person-first language, like “person with Autism,” which places the individual before the condition. We’ve used both forms of language in this episode, and we encourage respecting individual preferences by asking what each person is most comfortable with. For more on this, check out resources like the National Institutes of Health’s guide on writing respectfully about identity and the Autistic Self Advocacy Network’s explanation of identity-first language.

Additionally, when we refer to ‘Autism risk’ in the context of academic research, it typically means an increased genetic likelihood of receiving an Autism diagnosis. However, we recognize that “risk” can imply a negative connotation (which we do not support.) Instead, we aim to discuss Autism in ways that honour the neurodiversity of all individuals.

Lastly, regarding sex differences in Autism diagnoses, in this episode, we’re talking specifically about sex assigned at birth. Although we mention gender, we want to be clear that we aren’t exploring how Autism diagnoses may vary by gender identity—that area remains understudied! So, our conversation is focused on differences between males and females, and we look forward to seeing more research on the richly complex interactions between gender identity and neurodiversity in the future.

Dr. Rackeb Tesfaye, Director of Knowledge Mobilization at the Pacific Institute of Pathogens

Dr. Rackeb Tesfaye is the Knowledge Mobilization Director at the Pacific Institute on Pathogens, Pandemics and Society at Simon Fraser University. Her current role aims to promote the uptake of knowledge mobilization for pathogen and pandemic-related research, with an emphasis on embedding integrated knowledge mobilization and participatory-based practices.

HIGHLIGHTS

(6:32)

Growing up undiagnosed

(18:52)

The genetic underpinnings of Autism and related neurodiverse conditions

(22:20)

Debunking the “female protective effect”

(26:37)

A biased assessment

TRANSCRIPT

00:00:03

Narrator: Beneath, the rolling waves. In the shadowy depths of the ocean, an elusive creature rests, an octopus nestled comfortably upon its coral throne. For now, it lies still as if in peaceful repose, but in an instant it’s vanished or so it seems. In reality, this master of disguise has not left at all with remarkable precision, the octopus has merged into the landscape becoming one with the coral reef itself, its supple skin transforms, shifting from smooth to rugged. Its color flowing from the deep Azure of the sea to the muted rounds of the ocean floor. This facade is not only a survival strategy, it’s an art. The art of invisibility.

READ TRANSCRIPT

00:01:00

Dr. Kaylee Byers: This clever octopus spends its life adapting to its surroundings, but it’s not just our eight- armed friend that does this. Humans are pretty good at camouflage too. And we’re not talking about camo pants and a T- shirt. My dudes, we can see you in that outfit. In our society.

 

Many people on the autism spectrum use a similar strategy called masking to navigate a world that wasn’t designed with them in mind. And while masking might allow people to blend in, it can also have implications for people being overlooked or misdiagnosed.

 

So what does this tell us about how we’ve been studying neurodiversity? Are the numbers we rely on really representative? And how has science unintentionally pushed so many people into diagnostic shadows? You are listening to Nice Genes! The podcast that reveals the science hiding in plain sight, brought to you by Genome British Columbia. I’m your host, Dr. Kaylee Byers.

 

00:02:02

Dr. Rackeb Tesfaye: And I’m your co- host, Dr. Rakib Tespé. I’ll be helping you unmask the discoveries that have been camouflaged in the world of science.

 

00:02:13

Dr. Kaylee Byers: I am going to let you in on a little secret. The world of podcasting is not always as glamorous as it might seem. Sometimes the only place to record is from the bathroom floor.

 

00:02:22

Dr. Rackeb Tesfaye: Okay. I’m building a book tower.

 

00:02:25

Dr. Kaylee Byers: Are they bathroom books? Are they just like five Chicken Soup for the Teenage Souls or whatever? You know the ones?

 

00:02:30

Dr. Rackeb Tesfaye: Oh, I wish. Michelle Obama is staring at me.

 

00:02:34

Dr. Kaylee Byers: Tespé is a Director of Knowledge Mobilization and a Health Scientist at Simon Fraser University. Rakib’s done lots of research into autism and sleep, and not to mention, she’s also a certified BFFL best friend for life. Hey, Rakib.

 

00:02:50

Dr. Rackeb Tesfaye: Oh, hey, Kaylee. What’s up, bestie? I’m so happy to be here.

 

00:02:53

Dr. Kaylee Byers: Oh my gosh. I’m so excited for you to be here too. This is going to be so fun. So just get our feet wet. Can you tell us a little bit about the work that you do and the research you’ve done in this space?

 

00:03:04

Dr. Rackeb Tesfaye: Yeah. So my current role as a public health knowledge mobilizer in a nutshell is to make scientific research applicable and matter to everyone. Making sure that our scientific studies don’t just collect dust in inaccessible journals, but that they are communicated to the world and that our knowledge isn’t just created in an ivory tower, but created with people who will be impacted by the science and who can make it more relevant and culturally appropriate. And I was inspired by knowledge mobilization as a career from my graduate research days where I investigated the link between sleep issues and neurodevelopmental disorders, particularly autism in my PhDs.

 

So as I did this research, I got to spend a lot of time with autistic folks and their families and got to listen to their stories. And so I had the opportunity to work on making research more inclusive. So I’m really looking forward to diving into this episode in an area of study that is very near and dear to my heart.

 

00:04:03

Dr. Kaylee Byers: Can’t wait. It’s going to be great.

 

00:04:05

Dr. Rackeb Tesfaye: Alrighty. Just to define things a bit, the clinical definition of autism or Autism Spectrum Disorder, ASD is that it’s a developmental disorder characterized by challenges with social communication skills and repetitive or restricted behaviors or thinking. Autism is really diverse and looks different in each person. In autism and neurodiversity more generally when it comes to factors like sex and gender, the correlation is complex and controversial, and I’m ready to dive right in and start peeling back these layers.

 

00:04:41

Dr. Kaylee Byers: Can you give us a little bit of background of what kind of biases there are when we look at autism and sex?

 

00:04:47

Dr. Rackeb Tesfaye: So autism has traditionally been viewed as a male condition given that boys are more often diagnosed than girls. In fact, it’s commonly cited that for every four males diagnosed with autism, one female is, and there was a theory that came out in the early 2000s from British researcher Simon Baron- Cohen.

 

It was called the Extreme Male Brain Theory, which essentially suggests that autism is an exaggeration of typical quote/ unquote “Male traits.” So things like being good at systemizing or having a lack of empathy because this theory suggests that women are more empathetic and this theory has received a lot of pushback in the scientific community.

 

So some of the things that I’m really excited to explore in this episode are some pretty murky but super important questions like how have women been left out of the autism conversation? What are the genomic components at play? And how do we tease apart the social factors when it comes to sex differences in autism? And also, should we even study the genetics or is that just propelling this idea that autism and other neurodivergent conditions or something that need to be cured?

 

00:06:00

Dr. Hannah Louise Belcher: Ironically, I was actually assessed by Simon Baron- Cohen’s team who came up with the extreme male brain theory.

 

00:06:07

Dr. Kaylee Byers: That’s really funny. While you were there, did you say, “By the way, I’ve been critiquing this?”

 

00:06:11

Dr. Hannah Louise Belcher: Nope. Nope. I said, “Great work.” My name’s Hannah Belcher. I have a PhD in psychology. My pronouns are she/ her. I’m currently a lecturer at King’s College London in user- led research.

 

00:06:25

Dr. Kaylee Byers: Dr. Hannah Louise Belcher’s area of expertise is in autism research, but she also has a personal tie to this topic.

 

00:06:32

Dr. Hannah Louise Belcher: I mainly just remember being really anxious all the time over everything. So I was selectively mute, so I wouldn’t talk when I started school. And actually what kind of got me a little bit more confident was the other girls in the classroom. They kind of looked after me and guided me and I started talking to them with chat. And then by the end of my primary school years, I was constantly being told off for chatting in class. So it was a complete turnaround.

 

I really enjoyed socializing as a child. The difficulties came when it was new environments, new people. When I started secondary school, for example, and suddenly kind of thrown into a much bigger class and everyone’s interested in boys, everyone started going to parties and I couldn’t keep up. I wasn’t there yet.

 

That’s when the anxiety really started for me, and it eventually led to me stopping going so completely. I became very agoraphobic, didn’t really leave the house. For some ridiculous reason, decided that even though I hadn’t left the house for I think it had been like three years by that point, I could go to university in a completely different city and live independently, which in hindsight, I mean I achieved it, but it wasn’t my best four years.

 

So I went to do psychology degree. I did my dissertation on the extreme male brain theory of autism. I was completely clueless. I also thought it was a condition that only boys had, and I didn’t identify any of the traits at that point. It was only when I came out of that and was in therapy that a therapist said, “I think you might be autistic.” And being autistic, I took it as my special interest to discover absolutely everything there was on female autism.

 

00:08:13

Dr. Kaylee Byers: That’s an incredible story. So you’re doing this thesis work on this topic. What led you to go get tested for autism?

 

00:08:24

Dr. Hannah Louise Belcher: So I came out of uni, I’d done my dissertation and I was in art therapy for a number of years and I had just very extreme depression and very extreme anxiety and nothing was really helping. And the art therapist said, after a while, “I think you might be autistic.” And then we looked into it. I looked into it and the reason I got tested was because for me it was really important that I have that confirmed that I went through the process. A lot of people are happy just to know they’re autistic and not go through the formal procedures, but for me, it was important that I had that confirmation because I hadn’t considered it before.

 

00:09:00

Dr. Kaylee Byers: In reflecting back on your life and some of the stories you’ve told us, did it make you feel or think differently about your experiences growing up?

 

00:09:06

Dr. Hannah Louise Belcher: Yeah, definitely. I could see I had panic attacks from very young age, and I could see now what all those panic attacks were about, and especially the agoraphobia. It really helped because I think I realized that a lot of the reasons I was anxious about leaving the house were sensory reasons.

 

For example, queuing up in a shop, and going into loud environments where they’re busy and going to restaurants and things like that. I could really see then the anxiety I had when I was younger and how I had started camouflaging and masking using the girls around me to learn how to socialize and how I’d been using that kind of observation method to learn how to fit in.

 

00:09:43

Dr. Kaylee Byers: Like our octopus friend. These terms, camouflaging and masking are super relevant for Hannah and many people on the autism spectrum. So what do they mean?

 

00:09:53

Dr. Hannah Louise Belcher: Camouflaging I guess is a broader term that encompasses masking. Masking is kind of hiding autistic traits. So this might include elements of fitting in trying to fit in with others around you. So mimicking other social behavior, watching people how they behave, watching TV programs, reading books, trying to learn how people react, trying to learn the things, right, things to say, practicing those.

 

The other part of it’s compensation, so compensating for autistic traits. So that might be if you have difficulties understanding or interpreting, for example, someone’s facial expressions or emotions, you might learn how to do that through different mechanisms like learning what different facial expressions mean or learning what different pictures of voice mean. Lots of different ways really to pick up on how to hide autistic traits and to appear neurotypical.

 

00:10:48

Dr. Rackeb Tesfaye: And are autistic women better at masking or do it more often?

 

00:10:52

Dr. Hannah Louise Belcher: Yes, there’s quite conflicting findings on the CAT- Q, which is the camouflaging autism questionnaire. It shows that everyone does it to some extent. So even neurotypicals do it. Autistic people do it more. Autistic women do it even more. But other studies have shown that actually there isn’t that much difference between autistic males and females on the amount they camouflage. It’s the quality of camouflaging.

 

So it’s kind of the depth of that camouflaging and the strategies used. But it’s quite difficult, especially with the CAT- Q because it is self- reported it si difficult to really pinpoint who’s doing it more, who’s doing it less. But we do know that females, for example, have some benefits when it comes to camouflaging. For example, they’ve got some skills that would enhance camouflaging, like better executive functioning skills in some areas. So like memory inhibition, planning, all those sorts of things that would make camouflaging slightly easier to do.

 

00:11:46

Dr. Rackeb Tesfaye: So having to adopt these strategies every day as an autistic person can be incredibly exhausting. And can you talk about the toll that that has on autistic folks?

 

00:11:57

Dr. Hannah Louise Belcher: The difficulty is, as I said, everyone masks to some extent, but for autistic people it’s more pervasive. It’s for longer. It’s more in- depth. And if you think about it in the way that, for example, a non- autistic person masking for a job interview, but they’re masking with other non- autistic people. Whereas, for an autistic person to mask, they’re trying to fit in with a completely different social culture. And because masking starts so early as well, that can really affect identity formation. And the stress that that has is massive. So we know that it causes an increase in mental health problems.

 

Even more worryingly, we know that it’s directly linked to suicidality. So even when depression and anxiety is taken out of the picture and that’s controlled for, camouflaging directly increases the risks of suicide. So that’s really worrying in itself. And part of it I think we’re looking at is the exhaustion of doing it, this idea of thwarted belonging. So always trying to belong and wanting to belong and not quite being able to get there. And just in general, the loss of identity or not quite having formed an identity or not really knowing who is you and who is the masked self.

 

00:13:07

Dr. Kaylee Byers: So masking, camouflaging, compensating, these all take a toll on the people that do it every day, but it also affects the numbers and how we understand the diagnostic rate of autism. So let’s unpack that. Where did our understanding of autism start?

 

00:13:25

Dr. Rackeb Tesfaye: So you mentioned that you wrote your thesis on gender- based theories and autism. So let’s explore some of those main theories. Historically, as we’ve mentioned, autism has been viewed as a male condition, and there’s a commonly cited statistic or ratio. So the 4: 1 male to female ratio. Can you explain why autism has been viewed in this way and how these might be misleading?

 

00:13:48

Dr. Hannah Louise Belcher: So it’s been viewed in that way because the very origins of autism were primarily focused on autistic white boys. So from that point onwards, every conceptualization we have of autism is based on those early groups. And then if you think about theories like the extreme male brain theory that came from that, mostly those theories also only test white males. So a very biased view of the traits that are present.

 

And then that kind of led to this idea of the protective female factor. And the idea of that really was that where females were being diagnosed, they seemed to be more severe extreme cases of autism. So they were showing more severe traits, basically.

 

So they were saying that for a female to be autistic, they had to be hit harder by this genetic load, and that’s why they suffered more. But again, what those studies all completely missed was the different presentations of autism and females with autistic spectrum traits that weren’t being picked up, other communities of autistic people that were being ignored as well. It was a very biased sampling that supported all of those theories with very controversial findings.

 

00:15:05

Dr. Rackeb Tesfaye: So the female protective effect is the idea that females have a genetic shield that protects them from developing autism. We’re going to get into the science of this theory in a bit, but before that, there’s a different theory.

 

00:15:16

Dr. Hannah Louise Belcher: The female phenotype theory is basically the theory that autistic women have the same diagnostic impairments or differences than autistic males. So the core underlying impairments are the same, but the difference is, is how those things are expressed, and that’s the phenotype. So where we see things like externalizing a lot in autistic males, females tend to internalize.

 

So whereas, a autistic boy might show traits of aggression or hyperactivity, a female would show traits of anxiety and shyness. And that extends to everything really, extends to things like special interests. A boy, for example, might like things like cars and vehicles and things like maths, those autistic stereotypes we have. Whereas, females might instead have special interests around pop stars or dramas, soap operas, things that are perceived as a normal interest for that age group.

 

The difficulty really with the framing of the female phenotype of autism is it falls into the same trap as the extreme male brain theory in that it also dichotomizes males and females very much so. Whilst it’s true that more females tend to show that phenotype, there are many males as well that have been misdiagnosed, late diagnosed, also showed a similar phenotype.

 

00:16:39

Dr. Kaylee Byers: This is where we embrace the complexity of neurodiversity. Though there are distinct sex differences in the autism diagnosis ratio, it feels really simplistic to divide it between these two categories.

 

00:16:51

Dr. John Constantino: We’re trying to take all the information that we can to get arms around how pronounced is the biological bias, and how pronounced is the misunderstanding of children who have these conditions that aren’t being recognized?

 

00:17:03

Dr. Kaylee Byers: Coming up, we are breaking down the biology. What’s the real genetic basis for these sex differences and how science is putting a big old wrench in what we thought we knew when it comes to biology of autism and sex. You are listening to Nice Genes! A podcast all about the fascinating world of genomics and the evolving science behind it. Brought to you by Genome British Columbia Dr. Kaylee Byers, your host.

 

00:17:31

Dr. Rackeb Tesfaye: And I’m your co- host, Dr. Rakib Tespé. And we want to get more people to listen to the genomic stories that are shaping our world. So if you like Nice Genes!, hit follow on Apple podcast or wherever you get your shows. If you’re fascinated by the whole spectrum of scientific stories, help challenge the status quo and share the show.

 

00:17:55

Dr. Kaylee Byers: Okay, we’ve covered things like masking and how different expressions of autism can really leave certain people behind gender biases. And frankly, a sexism in our society have hugely shaped how we study and diagnose conditions like autism. These social factors are key when we look at the bigger genomic picture. But how much of this is shaped by society and what’s in our DNA?

 

00:18:18

Dr. John Constantino: There’s no question that there is an underestimation. The degree of it’s always hard to say. My name is John Constantino, I am the Chief of Behavioral and Mental Health at Children’s Healthcare of Atlanta.

 

When I first started my research career, autism was considered an all or nothing thing that you either had it or you didn’t. And it really wasn’t known what the nature of its relationship to genetic variation was, except that it was strongly suspected to have genetic underpinnings and causes. The strongest evidence for the genetic nature of causation is from twin studies. If twin one has autism and the pair is genetically identical, the likelihood that twin two has autism is over 93%.

 

Now, let’s take the case of non- identical twins. It’s only 22% of the time that twin two has autism, meaning that if you cut the genetic similarity in half between those pairings, the concordance for the outcome plummets from almost 100% to 20%. And that is some of the strongest evidence available for the influence of genes as the causal agents in autism or a related condition.

 

00:19:37

Dr. Kaylee Byers: Autism is linked to both common and rare genetic factors. There are over 1, 000 genes that have been connected to autism and their contribution varies substantially. We’re talking maybe involved to definitely involved. Most cases involve a bunch of common gene variations that each slightly increase the likelihood of having autism.

 

In rarer cases, a single gene mutation or disruption in a specific genomic area can have a big impact and is directly linked to autism. This mix of genetic influences is why autism is so diverse and different for everyone. And Dr. Constantino mentioned related conditions. There’s one in particular that you might be familiar with.

 

00:20:22

Dr. John Constantino: If a person has autism and their brother or sister doesn’t have autism, they still have a four times higher likelihood of having ADHD than anybody else in the population. And so that means that those clusters of polygenic risk are shared at some level. And polygenic risk means the cumulative effect of multiple, multiple genetic factors, and the mathematics of it is a little complicated, but at the end of the day, literally half of the causation of autism is shared with ADHD.

 

These are two conditions that we think of as completely different, but there’s a link between those two that’s very pronounced. I use the term risk for conditions that are disorders, but autism is a spectrum and the characterizing features shouldn’t be considered all as risk. There’s plenty of data to show that some of those characterizing features are adaptive and they’re a matter of diversity. They’re not a matter of risk for something quote/ unquote “bad.”

 

00:21:20

Dr. Rackeb Tesfaye: What I find so interesting about this is that we see a similar pattern in ADHD diagnoses as we do with autism. Boys are more than twice as likely to be diagnosed with ADHD than girls. And like autism ADHD shows up differently in girls making it easier to miss or misunderstand. Hannah pointed out some key reasons for this, but it also isn’t all societal bias that accounts for this big discrepancy in the numbers, right? Shall we get a little more microscopic?

 

00:21:49

Dr. Kaylee Byers: Oh heck yes. Let’s do it. Hannah mentioned earlier this female protective effect, which has been a long time leading theory that suggests that in order for females to have autism, they need to have a greater genetic hit. She highlighted how this theory can be fraught given that so many women with autism aren’t recognized in the first place. And Dr. Constantino conducted a study in 2020 that put the genetic validity of that theory into question too.

 

00:22:21

Dr. John Constantino: So there was a lot of research that had accumulated over the years of my career over the last couple of decades on the sex ratio and on this possibility that it really was an effect of females being protected. And if you think about it, if that’s true, then what should happen is let’s say that a female has a brother with autism and therefore is protected from having autism by virtue of being female, but also having elevated risk by virtue of being a sibling of a person with autism.

 

So if you were to take pairings of people in the population, males with autism and their sisters without autism, you could ask a simple question. If the sisters have babies, particularly their boys should have a very significantly increased risk of autism. So how do you do that experiment?

 

We collected a massive sample basically of maternal and paternal uncles, and we simply compared, okay, was there a higher proportion of outcome of autism if it was inherited through a maternal uncle versus a paternal uncle?

 

And amazingly, there was no difference. It was a direct test of the female protective effect because if those moms were harboring risk and protected from it, they would absolutely have passed it along to their sons. There could be a slight effect of maternal protection. But the overwhelming conclusion from this study was that the liability was among the males. That with the same level of autism liability inherited through the family, the males were showing a higher likelihood of developing autism themselves, but not necessarily passing that along to their children.

 

And so it definitely challenged the whole thing about the female protective effect and placed the sensitivity in a different direction, which sounds like a semantic issue, but it’s not. So surprising and remarkable finding.

 

00:24:17

Dr. Kaylee Byers: Semantics are not everything, but they’re also really important. They come down to know how we ask questions in science. And then the focus that we place in the research questions that we have.

 

00:24:26

Dr. Rackeb Tesfaye: Absolutely Kaylee. And this particular semantic needs to be contextualized with regards to historical blame. So from the ’40s to the ’70s, there was a prevailing theory that autism was caused by poor mothering or cold uncaring mothers called refrigerator mothers, and they’ve carried a lot of guilt and blame for that.

 

00:24:44

Professor: In the case of these extremely disturbed children, not only nobody cared, but there was a wish that it would be much better if the child wouldn’t live.

 

00:24:53

Dr. Rackeb Tesfaye: So semantics is a lot in the case of autism.

 

00:24:56

Dr. Kaylee Byers: Yeah, I mean, this just is another layer of how sexism has also played into science and how we study and understand the world around us.

 

00:25:04

Dr. Rackeb Tesfaye: Absolutely.

 

00:25:04

Dr. Kaylee Byers: I’m really excited to see this shift in framing.

 

00:25:07

Dr. Rackeb Tesfaye: Me too. So given everything we’ve talked about, what does this mean in terms of how we look at the sex disparity in autism? How do we tease out the science from social factors?

 

00:25:19

Dr. John Constantino: I think what’s important for everyone to understand is that there is a real sex ratio in autism, and it is something that is essentially baked into the biology of the condition. Now, having said that, it is also true that for the exact same number of characterizing traits, boys will more likely get diagnosed than females.

 

And so there are ways to disentangle what is biologically foundational of a true sex ratio in the condition itself. And then what is cultural, behavioral, observational, bias masking all the things that go into over- ascertainment of males/ under- ascertainment of females at the same level of symptomatology. But if your measurement of the characterizing traits and symptoms is itself biased, then you may be underestimating the burden of a female where you’re using that benchmark as apples to apples. So it’s a little hard to get to that, and we need those kinds of metrics.

 

00:26:25

Dr. Kaylee Byers: As we’ve talked about throughout this episode. The way we look at autism has been based on a very male understanding of it. And in order to have a more inclusive view, we need a better way of testing for a whole range of how autism presents.

 

00:26:39

Dr. Hannah Louise Belcher: We get screening questionnaires like the Autism Quotient, which is used here to screen before assessments, all based on that kind of character idea of what autism looks like. So ask questions like, “Would you prefer to go to a museum than a party?” All those sort of questions that are just not relevant for all autistic people, especially not a lot of autistic women. And actually in the research we did recently, we found that Autism Quotient that’s being used for screening is heavily gender biased and doesn’t actually assess traits equally across females and males. And a lot of people, that’s what their assessments are based on. They only get put forward for diagnosis if they pass that screening questionnaire, or similar ones like it.

 

00:27:19

Dr. Rackeb Tesfaye: Some folks might say that since current assessments aren’t fair, genetic testing for autism could be really instrumental in helping recognize those who slip through the cracks. However, studying the genetics of autism also opens up a whole ethical can of worms.

 

00:27:37

Dr. Hannah Louise Belcher: A lot of these studies are trying to find genes in mind for the future to also find treatments. And that’s where the problem lies, is that autistic people have kind of developed an identity as autistic people.

 

People don’t want to be treated for their autism. And so when a genetic study comes along, there is a lot of skepticism. And I think if those studies want to do right and actually help the autistic community, what they need to do is to include autistic people in their studies in terms of the co- development of their studies.

 

So be clear about the aims and the outcomes, what they’re actually aiming to do. And there needs to be a lot of careful protection of that data so it’s not passed on to other places. In a big study recently that was looking at in the UK genetics, it was found out that there were people on the board that were looking for treatments and cures into autism. And although the study itself kept stipulating, that’s not what it was doing. It also didn’t make clear that the research findings wouldn’t be shared.

 

So we give up our genetic data, we don’t know where they’re going. We don’t know that a future study looking to cure autism isn’t going to come about or early identification, for example, in the womb. And then we have the kind of ethical dilemmas of if people find out they’re going to have an autistic baby, what do they choose to do with that? And that’s really the dangerous kind of road that a lot of the genetic research could lead down that autistic people are very, very wary of, and without proper safeguarding in place, a lot of autistic people don’t want anything to do with that research.

 

00:29:07

Dr. Rackeb Tesfaye: In the studies, the protocols in all aspects of the research that is being done now, do you see that shift happening as both someone with lived experience and as a researcher?

 

00:29:20

Dr. Hannah Louise Belcher: Yes, because a lot of places are now stipulating that you have to have a lived experience panel to get your research grant. There’s a lot of journals now where you have to report that. So the standards are getting higher. The difficulty still lies with the level of development in those studies. Where we really want to get to is co- development with autistic people, and that means sharing powers.

 

So I think we’re at the base level of getting autistic people involved as autistic advisory groups, for example. We just need to keep upping it until we’re actually equally involving those people that the research is going to ultimately affect. And I think we’ve seen a real shift in the focus of the research becoming away from this research that’s done to autistic people that’s really not relevant to their lives at all. Those sort of treatments and things like that.

 

And we’re seeing more research around, okay, mental health services, quicker diagnosis, better diagnostic trajectories, those sort of things, communities, and those are the research priorities wanted by the autistic community. And funders and journals are gradually starting to support that more and more, which is great.

 

00:30:25

Dr. Kaylee Byers: How would you like to encourage people to think about autism and other neurological conditions?

 

00:30:31

Dr. Hannah Louise Belcher: I think I’d like them to have more of an awareness. Autism not necessarily being a deficit or a mental health problem, but being a difference and them needing to make more of an allowance for that difference. So making less hasty judgements, making more reasonable adjustments so that autistic person can actually fit in and can actually be their authentic selves. And so I think that’s my main kind of drive where I want things to go is for non- autistic society to be more accepting of autistic society rather than us being the ones that have to learn to fit in.

 

00:31:09

Dr. Kaylee Byers: Well, thank you so much for taking the time to chat with us. It was really a pleasure.

 

00:31:13

Dr. Rackeb Tesfaye: Yeah. Thanks so much, Hannah.

 

00:31:24

Dr. Kaylee Byers: If you want to check out Hannah’s book, Taking Off the Mask, which I highly recommend, you can find a link in our show notes.

 

00:31:31

Dr. Rackeb Tesfaye: Our guest for today, we researcher Dr. Hannah Belcher from King’s College University in London and Chief of Behavioral and Mental Health at Children’s Healthcare of Atlanta Dr. John Constantino.

 

00:31:41

Dr. Kaylee Byers: And my wonderful co- host today was Dr. Rakib Tespé Rakib. Thanks so much for coming on and joining us.

 

00:31:49

Dr. Rackeb Tesfaye: This has been such a joy. Thank you for having me, Kaylee.

 

00:31:51

Dr. Kaylee Byers: You’ve been listening to Nice Genes!, a podcast brought to you by Genome British Columbia.

 

00:31:56

Dr. Rackeb Tesfaye: If you like this episode, go check out some of our previous ones. Wherever you listen from, share us with your friends and leave us a review to help us stand out from the camouflage. You can also DM the show on social media by going to @ genomebc.

 

00:32:10

Dr. Kaylee Byers: Join us next time as we take a trip back to 2004 to one of the largest natural disasters on record.

 

00:32:18

Dr. Dirk Van der Meer: He literally tapped me on the shoulder and said, “We were sending a team over. Would you be interested?”  “Absolutely tell me when.” And it ended up being the largest DVI response in the history of the world.

 

00:32:28

Dr. Kaylee Byers: What role do genomics play when disaster strikes? Tune in to find out. Thanks for listening, and we’ll see you next episode.

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