Autism Diagnosis in Girls and Women: Nature vs Nurture

In the realm of autism, women’s experiences have long remained overlooked and under-discussed. As a psychiatrist who has dedicated my career to autism mental health care and as a woman in the medical field, I am eager to share my insights and perspectives on this topic.

Through the lens of my clinical encounters, I aim to shed light on the unique challenges these remarkable individuals face and highlight the current trends in the research.

Today, I would like to delve into the intriguing topic of the disparities between boys and girls in the diagnosis rates of autism.

Understanding Autism: A Complex Puzzle

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by challenges in social communication, repetitive behaviors, and restricted interests. Historically, it has been more commonly diagnosed in boys than in girls, leading to the perception that it is primarily a male condition. However, emerging research and clinical experience have revealed this notion is inaccurate.

The Gender Disparity: Boys Vs. Girls

Did you know that boys are four times more likely to be diagnosed with autism compared to girls? Why is this?

Well, it’s not a simple answer. Some theories focus on biological differences, whereas others point to societal expectations centered on male behavior.

The Role of Genetics - “Nature” Side of Things

Chromosomes are tiny packages inside our cells that contain our genetic information. They carry the instructions that determine our unique traits and characteristics. Some biological differences in chromosome structure between males and females may play a role in the different diagnosis rates.

Females have two chromosomes shaped like an “X.” Males have one shaped like an “X” and one shaped like a “Y.” The most common single-gene cause of autism in males is a condition called Fragile X syndrome. A breakage of genes on the X chromosome causes it. In males, because they only have one X chromosome, if this package of cell information is altered, it can result in Fragile X syndrome. This can lead to developmental delays, intellectual disabilities, and autism symptoms.

On the other hand, females have two X chromosomes. If one of their X chromosomes carries the altered gene, they still have another X chromosome to compensate for the genetic change. This means females are less likely to develop Fragile X syndrome or have significant autism symptoms than males. However, it’s important to note that some females with the altered gene can still experience milder symptoms or other related challenges.

The role of chromosomes and their impact on genetic conditions like Fragile X syndrome highlights the complex relationship between genetics and autism and the differences in how these conditions manifest in males and females.

A single gene does not cause, most of the time, autism but rather a combination of genes, each contributing slightly to the risk. Science has identified at least 200 genes so far. Some of these genes are found exclusively on the male Y chromosome (Wu et al., 2009; Loke et al., 2015). These genetic differences shed light on some biological factors that may affect autism rates between males and females. However, it’s important to note that genetics alone cannot fully explain these differences.

The Role of Society - “Nurture” Side of Things

Understanding the diagnosis rates of autism becomes even more intricate when we consider the concept of gender definitions. Research suggests that some people with an autism diagnosis may not conform to traditional gender norms. These findings emphasize the importance of considering gender diversity when examining the disparities in autism diagnosis between males and females.

Social Factors: Research Challenges and Pressure to Conform

There is a strong bias towards male-focused autism research in the healthcare space. This disparity in autism diagnoses is a larger problem in diagnosing women’s brain health conditions. There has been a persistent belief that women experience the same health symptoms as men, except for gynecological health issues. This bias has resulted in delays in diagnosing and providing care for approximately 700 medical conditions affecting women, including autism.

The lack of representation of women with autism in the media exacerbates this issue. The prevailing image of autism often centers around stereotypically male traits, such as intense interests in specific topics or difficulties with social interactions. This narrow portrayal leaves out the diverse experiences of girls and women on the spectrum, hindering accurate identification and support.

Individually, girls and women face immense pressure to conform to social norms and expectations. This pressure can be especially burdensome for those on the autism spectrum. The struggle to meet these societal expectations adds complexity to the experiences of girls and women with autism.

Masking Behaviors: The Camouflage of Autism

One of the significant challenges girls and women face on the autism spectrum is the act of masking. Masking refers to suppressing autistic behaviors to fit in and adapt to social situations. It is more commonly observed in females and often begins at an early age.

Masking behaviors may include:

• Forcing eye contact
• Enduring uncomfortable social situations
• Concealing stimming behaviors (repetitive movements like hand-flapping or rocking)
• Scripted language in conversation.
• While masking can help individuals navigate social environments, it comes at a cost.

The Hidden Struggle: Co-Occurring Mental Health Symptoms

Girls and women with autism often experience co-occurring symptoms of anxiety, depression, and low self-esteem. These challenges can overshadow the core features of autism, leading to misdiagnosis or underdiagnosis.

Anxiety is a common companion for girls and women on the spectrum. Difficulty interpreting social cues and navigating complex social interactions can trigger significant anxiety. Unfortunately, anxiety symptoms may not always be recognized as separate from autism, further complicating the diagnostic process.

Diagnosis Challenges: Unveiling the True Picture

Accurate autism diagnosis in girls and women requires clinicians to be vigilant and well-informed. Girls may present with subtle differences in social communication and interests, making it less apparent to recognize their autism compared to boys with more stereotypical presentations. Similarly, women may have developed more sophisticated coping mechanisms that mask their autistic traits.

How do I use this information as a psychiatrist?

In conclusion, gaining a deeper understanding of autism diagnosis in girls in women necessitates acknowledging the impact of societal expectations, masking behaviors, and internalized symptoms. It is also helpful to keep in mind some genetic factors. By embracing the individuality and strength of each person on the autism spectrum, we can empower girls and women to embrace their identities.

When evaluating a young female with symptoms encompassing anxiety, ADHD, sensory issues, and social challenges, I always consider the possibility of autism. I conduct a detailed family and personal history to ensure a more accurate diagnosis. I ask about the person’s development and behavioral patterns. Through careful assessment, I aim to distinguish autism from other conditions and give a timely diagnosis. This is pivotal in helping girls and women understand themselves and develop self-advocacy.

Through collaborative efforts, empathy, and ongoing research, we can strive towards a world where everyone, regardless of gender, is seen, understood, and appreciated for their true selves.