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Exploring the link between biological sex and autism diagnosis

April is Autism Awareness Month, and 23ABC is highlighting the various issues that community faces, including the apparent differences between men and women when it comes to diagnosing autism.
autism acceptance
Posted at 6:18 PM, Apr 13, 2023
and last updated 2023-04-15 18:50:08-04

Autism is a complex diagnosis and has a variety of impacts on those diagnosed. Autism can present very differently in different people, and one of the more striking differences is between the biological sexes.

According to the Centers for Disease Control and Prevention, boys and people assigned male at birth are 4 times more likely than girls and people assigned female at birth to be diagnosed with Autism Spectrum Disorder, or ASD.

This leads medical researchers to ask whether the difference is because boys are simply more likely to develop ASD, or is it because ASD presents differently in girls and leads to underdiagnosis in females.

"Boys have more overt and more aggressive and disruptive symptoms. Girls tend to be a little more passive, so they slip underneath the radar," said Omni Family Health Pediatrician Dr. Anu Rao. "Girls are very good at mimicking other girls, so they can put on a mask of socially appropriate behavior when they are at school and so on, so that makes it even more difficult to diagnose."

Ramona Puget, Director of the Kern Autism Network, says that part of what adds to the confusion is that there haven't been many studies that focus specifically on how autism presents in female people.

"It also goes back to the studies that were originally done with the male population, so that's why there isn't a lot of studies done of females and autism," said Puget.

Dr. Karen Pierce, professor of neurosciences at UC San Diego and co-director of the university's Autism Center of Excellence, has spent her entire career researching autism and says she doesn't necessarily believe that women are underdiagnosed.

"Are there biological reasons for that, or are we just missing more females with autism for whatever reason? And that's really controversial, to be perfectly honest. The data are mixed," said Pierce.

Pierce says UCSD-ACE is in the middle of looking at a huge dataset that looks at the differences between men and women with regard to autism diagnoses.

"I can tell you on some of the biological tests that we have done, like, let's say eye-tracking; we haven't seen huge differences between males and females. And some of our brain imaging tests as well, we haven't been seeing huge differences," said Pierce. "It's definitely an open question in the field that I will say has not been particularly well resolved as of yet."

Dr. Tamar Nazerian Chorbadjian, behavioral pediatrician for Kaiser Permanente, says the medical world's understanding of autism in women is evolving.

"Back in the day, a lot of clinicians were like, 'Oh, you are a female. It can't be autism. Let's not even worry about that,'" said Chorbadjian. "We were quoting statistics that there is a 4 to 1 ratio of males versus females in terms of diagnosing autism. Now that we are a little more aware and a little more cognizant of the way that autism presents, and we are seeing an uptick in the female numbers, and we are looking at a ratio closer to 3 to 1."

According to Puget, women and females are also more likely to be diagnosed with a condition other than autism or ASD.

"A lot of them get misdiagnosed. They'll end up with bipolar or they'll end up with anxiety or they'll end up with depression," said Puget.

Even an appropriate diagnosis may still lead someone to develop other mental health conditions. For people on the spectrum, it can be difficult to connect with others.

"Typically females will start to notice a lot more and feel that impact, and it can lead to other mental health conditions like anxiety and depression," said Chorbadjian.

Joselyn Bermudez, who received a diagnosis when she was 10 years old, says it was difficult for her to connect with neurotypical people

"Like, I tried to make friends in high school with people that didn't have autism. They just made fun of me, bullied me," said Bermudez.

Michelle Gagner, a person with autism, has also considered the differences in presentation between males and females.

"Well women, or in my case, I tend to get emotional often and break down," said Gagner.

Bermudez says she hasn't personally noticed differences between men and women on the spectrum.

"I think autism might call it different in all people, boys and girls. I don't think it is the same in any person," said Bermudez.

Ultimately, Dr. Rao believes finding the definitive answers to these questions is going to take more research.

"I think females are underdiagnosed, especially the ones with subtle symptoms, and in general females present differently at an early age," said Rao. "But we have to remember we don't really still know the actual cause of autism, so we can't be sure."

The Kern Autism Network hosts the Females on the Spectrum Support Group every month at their location in Downtown Bakersfield at 3204 21st Street. Please visit KAN's website for more details about this and other activities hosted by KAN.