All About Autism: Misconceptions, Stigma, Lack of Females in Research

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When Alycia Halladay, PhD, chief science officer at Autism Science Foundation, noticed her daughter was not speaking or maintaining eye contact like her twin, she knew something was off.

However, Halladay did not expect her daughter to have autism, despite working in the field for years. She thought her daughter might have had OCD or attentional problems.

Despite the developmental delays, the pediatrician told Halladay her twins were “on the same trajectory.” Even when Halladay brought up her concern of her daughter not walking until 20 months, her pediatrician brushed her concern by saying, “Well, they all walk at some point.”

Although reassured by the pediatrician, family members voiced their concerns about her daughter’s behavior.

“I kind of was worried, but I just pushed it away thinking that I was overreacting,” Halladay told HCPLive.

It wasn’t until her daughter’s teachers at daycare sat Halladay down and said, “We're not kicking her out, she's welcome to stay, but she needs more help than we can give her. She needs more of a 1-to-1.”

The teachers continued to explain how she did not play with other kids, did not seem to be interested in what other people are doing, and was unengaged.

Halladay noticed her daughter struggled with routine changes, being extra aware if they didn’t go home the same way every day from the daycare center and having a meltdown.

“It got to be to the point where I felt like she was really unhappy,” Halladay recalled. “What 2-and-a-half-year-old wants to be in the backseat of the car screaming for 45 minutes because the correct procedure for putting her in her car seat, the left then the right then the bottom, wasn't done in the proper order?”

Beyond that, Halladay noticed her daughter was becoming more aggressive in daycare, and she knew it was time for her to have an evaluation. Not long after, she was diagnosed with autism spectrum disorder (ASD).

What Are Common Symptoms and Misconceptions of Autism?

Halladay said some misconceptions of autism include pediatricians not understanding they are not just around for the diagnosis and referral but will be helping their patients, being the “go-to” person for recommendations, throughout the time the patient is diagnosed to when the patient goes to a different physician. Other misconceptions pediatricians might not know about the importance of genetic testing and how many states cover genetic testing for any child with an ASD diagnosis, as well as not knowing that ASD runs in families.

“We hear a lot from psychologists that their families will tell them that their pediatrician said, ‘Oh, lightning doesn't strike twice in the same family have one child with autism, there's no way that you're going to have another child with autism.’ And in fact, the rate of recurrence is about one in five,” Halladay said.

Common ASD behaviors include social challenges, stimming, liking routine, resistance to changes, aggression, and being over- or under-stimulated by sensory input.¹ A child with autism might line up toys or other objects and get upset when the order is changed, might be less likely to express emotions through clapping or nodding, and can be extremely focused on or attached to unusual objects such as strips of cloth, wooden spoons, rocks, vents, or doorsteps.

Children with ASD face developmental delays. The Autism Science Foundation lists on their website expected milestones for a child’s first 18 months, a child at 18 – 30 months—when a child can receive an ASD evaluation—and a child at 3 – 5 years.

According to Autism Speaks, 1 in 36 children and 1 in 45 adults in the US have ASD. Boys are 4 times more likely to be diagnosed with autism than girls, with approximately 4 in 100 boys and 1 in 100 girls in the US diagnosed with ASD.²

A contributing factor as to why boys are more likely to be diagnosed with ASD may be due to how not many women participate in autism research—or are excluded.

Females Are Often Excluded in Autism Research

In a 2022 study, investigators, led by Anila M. D’Mello, PhD, from the McGovern Institute for Brain Research at Massachusetts Institute of Technology, analyzed research inclusion and exclusion rates by sex in adults with ASD.³ The team first examined the Autism Research Participant Database at the Massachusetts Institute of Technology (MIT), and after only including participants aged ≥ 16 years older, the final sample included 145 individuals with 95 males and 50 females.

They compared sex ratios of participants in their database with sex ratios in large public datasets often used in autism research, as the databases of Simons Foundation Powering Autism Research for Knowledge (SPARK), the autism brain imaging data exchange I (ABIDE I), ABIDE II, and a paper analyzing rates of autism in transgender and gender-diverse individuals using the public UK databases of Channel 4, Musical Universe, LifeLines, IMAGE, and Autism Physical Health Survey.

Database Sex Ratios

• SPARK: 12,217 individuals (7708 males; 4504 females)
• ABIDE I: 123 individuals (109 males; 14 females)
• ABIDE II: 91 individuals (80 males; 11 females)
• Combination of Channel 4, Musical Universe, LifeLines, IMAGE, Autism Physical Health Survey: 29,997 individuals (14,799 males; 15,198 females)

The study revealed females were more likely to fall below the diagnostic cut-off scores, and a greater number of females were excluded from further research participation after Autism Diagnostic Observational Schedule (ADOS) administration than males (50% vs 19%; P < .001). The final post-ADOS sample only had 50% of females who met the criteria for autism or autism spectrum compared to 81% of males, shifting the sex ratio (males: females) from 1.9:1 in the recruited sample to 3.1: 1 in the post-ADOS study.

When comparing the large public datasets, investigators found the number of females with ASD was reduced when ADOS was used to determine research eligibility (male: female ratios, ABIDE I, 7.8:1; ABIDE II, 7.3:1), more so than women who self-reported their diagnosis (SPARK, 1.7:1; C4, 0.95:1; Musical Universe, 1.8:1; IMAGE, 1.1:1; LifeLines, 1.3:1; Autism Physical Health Survey, 0.68:1).

How Autism Presents Differently in Females Vs Males

Males often present ASD in a different manner than females. Another 2022 study found girls with ASD were significantly more likely to use “friend words” than boys, but the same was not the case for “family words.”⁴ Investigators pointed out the study was limited by the sample being mostly boys with ASD than girls (76 vs 25 participants).

Other than speech, autism can also present differently in play.

“We maybe assume that interests in girls are the same as interest in boys,” Halladay said. “If a girl is hyper-fixated on dolls, for example, we may not identify that as being a circumscribed interest the same way we would say, ‘Well, boys are this, my son is obsessed with trains—he likes to line up trains, he likes to have his trains and or blocks in a specific way, and he gets really upset if they're disturbed. Well, girls can do the same thing, but they may do it with shells or dolls.”

People with Autism “Camouflage”

Another study found females often have more characteristics of autism than males, according to their greater score on the Autism Spectrum quotient, a screening tool not a diagnosis test. Some of the characteristics found in women were related to social communication, others special interests.

“It doesn't mean that there is a particular cluster of characteristics that are higher in females, but this collective autism characteristics that is being represented,” Lawrence K. Fung, from Stanford University, MD, PhD, told HCPLive.

However, despite females having greater autism characteristics, they are better at camouflaging their disorder. Camouflaging is like masking, in terms of copying the behavior of neurotypical individuals to come across are more typical, but there is a distinction between the two terms.

“Masking is actively doing something,” Fung said. “Camouflaging is actively doing something that looks like their typical and also suppressing things that are more like neurodiverse…behavior.”

Fung said he doesn’t know why females can camouflage more than males but said it could be because women tend to have more of a social communication challenge than stimming behaviors such as a rocking motion or flapping their hands like autistic males do.

Camouflaging can become a burden since individuals may behave in a way that does not reflect themselves. This burden may cause depression and anxiety.

Limited Treatment Options Exist for ASD But There Is Emerging Primary Research

Currently, no effective pharmaceutical treatments alleviate the core symptoms of ASD, they only treat the co-morbidities. Treatments like cognitive behavioral therapy only treat associated symptoms of ASD, such as anxiety.

Rosehill, an organization in Jamaica, is working with the University of Guelph to develop several strains of psilocybin to see if it can improve core symptoms of ASD. The study plans to evaluate idiopathic autism spectrum disorders using a rat model system.

“We know that there are some brain connectivity differences in autism spectrum disorders, and we're hoping that perhaps psilocybin may function as a way reset the brain to alleviate some of these symptoms,” Melissa L. Perreault, PhD, from the University of Guelph, told HCPLive.

Stigma Surrounding Autism

Thirty years ago, ASD was viewed as relatively rare, with perceptions of autism coming from stereotypes and pop culture. Now, things are changing.

“We're entering in a world where autism for some people isn't stigmatized at all; people can be very proud of having autism and seek out an autism diagnosis because it helps them identify or put a label on what they're experiencing,” Halladay said. “So, a lot of people are self-diagnosing now, which there's a lot of controversy about that. But for some people, there is no stigma behind having autism. For other people, they are afraid that that label is going to be with them throughout their life and hold them back from doing the things that they want to do.”

Over the years, the media has provided people with different manifestations of autism represented by movies like Rain Man and The Good Doctor.

“For a while, I would say autism has a particular representation in someone's mind,” Fung said. “Especially if you don't really know someone on the autism spectrum. Whatever it is that you've seen on TV and whatever people are talking about can be what you have as the impression on someone that's on the autism spectrum.”

Some people might think a lot of people on the autism spectrum have an intellectual disability or a very high IQ or are very good with computers. Other people might think everyone’s a little bit on the autism spectrum.

“I think there is starting to be some depiction of the positive aspects of people on the autism spectrum, like The Good Doctor, for example…showing what autistic people can do and what they can contribute to the society,” Fung said. “So, because of that, that actually helped to destigmatize autism.”

Fung said how the main character in The Good Doctor represented common ASD characteristics—difficulties with social interaction, sensory issues, and dysregulation in emotions. However, some viewers might not agree with the character’s depiction.

“It's more like, when you see a person—one person on [the] autism spectrum—you have met one person on the autism spectrum, you really have met one person, because there's a really wide range of presentations that autism may represent,” Fung said.

He added how the show presented autism in a better light as the series continued, showing how the hospital started to value the autistic doctor and acknowledging he was an important person who contributed to the surgical team.

“I think that's a really important point that everyone's contributing to society, and people on the autism spectrum should also have the opportunity to do the same,” Fung said. “We shouldn't need someone on the autism spectrum to be a savant to be considered to be an effective contributor to society.”

^References

1. ^{Causes, Signs and Symptoms. Autism Science Foundation. https://autismsciencefoundation.org/causes-signs-and-symptoms/. Accessed April 1, 2024.}
2. ^{Autism Statistics and Facts. Autism Speaks. https://www.autismspeaks.org/autism-statistics-asd#:~:text=Autism%20Prevalence&text=1%20in%2036%20children%20in,rate%20of%201%20in%2044.&text=In%20the%20U.S.%2C%20about%204,in%20100%20girls%20have%20autism. Accessed April 1, 2024.}
3. ^{D'Mello AM, Frosch IR, Li CE, Cardinaux AL, Gabrieli JDE. Exclusion of females in autism research: Empirical evidence for a "leaky" recruitment-to-research pipeline. Autism Res. 2022;15(10):1929-1940. doi:10.1002/aur.2795}
4. ^{Cola M, Yankowitz LD, Tena K, et al. Friend matters: sex differences in social language during autism diagnostic interviews. Mol Autism. 2022;13(1):5. Published 2022 Jan 10. doi:10.1186/s13229-021-00483-1}