Understanding Autism in Females: The Need for Improved Diagnosis and Awareness

Autism spectrum disorder (ASD) is identified by challenges in social communication and having restricted, repetitive behaviours or interests. It’s estimated that 64% to 91% of ASD cases are linked to genetics.

Early signs of autism in children, often noticeable in the first two years, include not responding to their name, not using gestures much in communication, and showing a lack of imaginative play. Additionally, some behavioural factors, like selective mutism, may also be present.

A Breakdown of Symptoms According to Current Research:

Here is a list of common symptoms of Autism Spectrum Disorder (ASD) that have been consistently demonstrated through research:

Social communication difficulties include challenges in verbal and non-verbal communication, such as difficulty understanding or using spoken language, gestures, facial expressions, and eye contact. There may be difficulty with social interactions, such as trouble initiating or sustaining conversations and forming relationships with peers. Some individuals experience delayed language development, including delays in learning to speak or not speaking at all. A lack of social reciprocity may also be present, with difficulty understanding or responding to social cues, such as not recognising when someone is upset or happy.
Repetitive behaviours and restricted interests (RBRIs) include repetitive motor movements, such as hand-flapping, rocking, or spinning. There is often strict adherence to routines and rituals, with distress over changes in daily routines or surroundings. Individuals may have restricted, intense interests, focusing intensely on specific topics, objects, or activities, often to the exclusion of other interests. Repetitive use of objects, such as lining up toys or flipping objects in a particular manner, is also common.
Sensory sensitivities can include hypersensitivity or hyposensitivity to sensory stimuli, leading to extreme reactions to sounds, lights, textures, smells, or tastes. This can manifest as avoidance, such as covering ears, or seeking behaviours, like enjoying strong lights or sounds. Unusual responses to sensory experiences may also occur, with strong likes or dislikes of certain sensations.
Cognitive and executive functioning differences may include difficulty with executive functioning, such as problems with planning, organising, and completing tasks. Rigid thinking patterns may arise, with difficulty adapting to new or changing information or situations. Literal thinking may also occur, with trouble understanding figurative language, metaphors, or idioms.
Social imagination and theory of mind challenges may include an impaired ability to understand others’ perspectives (Theory of Mind), making it difficult to recognise or predict other people’s thoughts, emotions, and intentions. Imaginative play difficulties may also be present, with limited engagement in pretend play or difficulty imagining alternate scenarios or possibilities.
Motor coordination issues can manifest as poor motor coordination, with challenges in both gross and fine motor skills, such as clumsiness or difficulty with tasks like writing or buttoning clothes.
Emotional regulation challenges include meltdowns or emotional outbursts, often triggered by sensory overload or changes in routine. Individuals with ASD often have stronger nervous system sensitivity and require more recovery or downtime after emotional overwhelm. Difficulty managing anxiety is common, particularly in unfamiliar or socially demanding situations. Self-soothing behaviours, such as nail picking, hair twirling, or repetitive watching or listening to TV or music (also known as stimming), may also be adopted.
Sleep disturbances can include irregular sleep patterns, such as trouble falling asleep, staying asleep, or waking up too early. These may be linked to sensory sensitivities or anxiety.
Delayed developmental milestones often include delays in areas such as language, motor skills, or social interaction, which are early signs of ASD.
Attention and focus issues may involve hyperfocus on specific interests, with intense focus on particular areas for long periods, sometimes excluding other activities. There may also be difficulty shifting attention, particularly when it involves changing routines.
Social anxiety and phobias are common, with many individuals experiencing heightened social anxiety due to difficulties understanding social norms or expectations.

Autism in Girls and Women

A literature review suggests that autistic females often present differently from males, pointing to the possibility of a distinct female autism profile¹ ². It highlights the low recognition of autism in females across various settings, including among the general public, in schools, clinics, and even in legal contexts. Many women may receive a diagnosis for a mental health condition, but not for autism. For example, autistic girls and women tend to show more internalised symptoms, like anxiety or depression, rather than externalised behaviours³.

This often leads to “diagnostic overshadowing,” where their difficulties are attributed solely to the mental health condition⁴, causing autism to go unnoticed. As a result, females may face greater mental strain by the time they reach adolescence and adulthood, encountering challenges without realising these may stem from autism.

Autistic females without intellectual disabilities (ID) are especially at risk of having their needs overlooked. Similar to ADHD, research shows that girls with higher levels of emotional and behavioural problems are more likely to receive an autism diagnosis⁵. This suggests that girls may need to show more severe impairments to be diagnosed. Another review emphasised that for females to be diagnosed with current criteria, their traits must be more pronounced to meet the diagnostic threshold.

Social Communication

Autistic women have been observed to show fewer social communication issues than autistic men, which may contribute to their under-recognition. Autistic girls often go unnoticed because they tend to play alone rather than in group games, where social difficulties are more apparent. While autistic girls may display more reciprocal behaviours than autistic boys, they still show less reciprocity compared to their typically developing (TD) peers⁶. Interestingly, one study found that autistic girls report having close friendships at levels similar to non-autistic girls, but they may experience more conflict in these relationships compared to autistic boys.

A systematic review suggests that age plays a significant role in social communication differences between males and females. It points out two possible explanations: either autistic traits in females may emerge later than in males, or pre-existing, subtler difficulties become more noticeable during adolescence when social demands increase. For example, some autistic individuals function well in early childhood but face growing challenges with social behaviour as they get older. Many describe excelling academically as children but struggling to keep up when academic and social pressures intensify, even receiving failing grades despite earlier successes⁷.

The review also highlights specific social communication traits more commonly seen in females, such as a “desire to interact with others,” “better awareness of the need for social interaction,” “passivity mistaken for shyness,” and a “tendency to mimic others.”⁸ These traits differ from the typical male characteristics of autism that clinicians often focus on during diagnosis, which may explain why females are underdiagnosed.

This study provides useful real-life examples of how girls and women experience autism symptoms differently.

Camouflaging / Masking

Research shows that autistic females tend to “camouflage” or “mask” their social communication difficulties more than males⁹ ¹⁰ ¹¹ ¹². Camouflaging refers to strategies, either conscious or subconscious, used by autistic individuals to hide their autistic traits or adopt behaviours typical of neurotypical people in order to fit in socially¹³. This is seen as a key reason why healthcare professionals believe autism presents differently in females. Examples of camouflaging include mimicking socially accepted gestures or facial expressions, and making or faking eye contact during conversations. However, research also links masking to mental health issues like anxiety, depression, low mood, and burnout¹⁴.

Parents of autistic girls often report that their daughters are highly aware of being different from their peers and that they intentionally try to manage social difficulties at school by being quieter or more cautious in their communication compared to at home. One study even found that autistic women had better cognitive abilities in areas like processing speed and executive functions than men, which may help them camouflage better by mimicking social behaviours more effectively. These gender differences in masking may be linked to societal expectations and how boys and girls are socialised¹⁵.

While masking helps women fit in, it is often mentally exhausting. One study found that camouflaging autistic traits was linked to a higher risk of suicide in university students. Women who appear socially competent but then display behaviours others find unusual may be criticised, yet they may lack the skills or knowledge to respond appropriately. Over time, camouflaging can harm their sense of self and identity, as they feel unable to express their true selves. It can also prevent or delay diagnosis, as professionals may dismiss them for not “looking” autistic.

Many women in this study described how their autistic traits were overlooked by professionals like doctors, teachers, or psychologists, or how their behaviours were seen as unremarkable. This could be due to masking, or because autistic traits in girls and women tend to be more subtle and internalised, making them harder to detect.

Dr. Kim Sage – How to spot high masking autism: 13 signs

Repetitive Behaviours and Restricted Interests

When it comes to repetitive behaviours and restricted interests (RBRIs), research shows that while autistic girls may have interests similar to their typically developing (TD) peers¹⁶, the intensity and focus of these interests set them apart. For example, autistic females are often drawn to topics like television or psychology (e.g., people, religion, or politics), whereas males tend to prefer areas like physics (e.g., machines, mechanical systems, transportation, building, computers). Both autistic boys and girls show more non-social interests compared to their TD peers and experience greater challenges related to these interests, such as difficulty shifting focus or resistance when interrupted¹⁷.

One review suggested that females with autism display fewer repetitive and stereotyped behaviours than males in quantitative studies. However, qualitative studies show mixed results, and it remains unclear whether the RBRIs in females are more similar to those of neurotypical peers or autistic males.

Sensory Challenges

While exploring gender differences in sensory challenges is currently limited, ‘preliminary evidence suggests females may have increased sensory issues in comparison to males… women experience unusual sensory issues that can contribute to feelings of alienation from society’ ¹⁸.

The Female Phenotype of ASD

Dr. Kim Sage – The female phenotype of autism: 12 signs autistic women & girls (2024)

Is Autism Caused By Genetics or Developed Through Learned Experiences?

To date, researchers have not found any biological markers – such as specific genes, proteins, or brain structures – that can be used to diagnose Autism Spectrum Disorder (ASD) reliably. Diagnosis is still based on behavioural observations and developmental assessments, focusing on social communication challenges, restricted interests, and repetitive behaviours.

Biomarkers refer to measurable indicators in the body (like blood tests, brain scans, or genetic tests) that are typically used to detect or diagnose medical conditions.
Specific to the diagnosis of ASD means that these biomarkers would be unique to ASD and would not be found in people without the condition.

Environmental factors do not directly cause autism, but they can influence the risk of developing autism spectrum disorder (ASD)¹⁹ ²⁰, particularly in people who have a genetic predisposition. Although early life experiences, such as social interactions or traumatic events, are not seen as causes of autism, they can still impact developmental outcomes for children on the spectrum. Watch the video below to learn more about how autism and trauma can sometimes appear in similar ways.

Dr. Kim Sage – Do I have autism or trauma? (autism & cptsd/ptsd)

Studies in Genetics

Autism Spectrum Disorder (ASD) is caused by a complex combination of factors, including genetic changes, immune system activity during pregnancy, and environmental influences. These factors affect how brain cells communicate, how genes are regulated, and how the brain develops and functions.

While some treatments, both medications and therapies, can help with certain symptoms of autism, they are not effective at addressing the core issues of the condition.

Genetic research has identified hundreds of genes linked to autism risk. Though the roles of many of these genes are not yet clear, they tend to be involved in three main processes: how proteins are made in cells, how genes are controlled and modified, and how brain connections form and adapt.

For more detailed information, see the study from MDPI here.

Social behaviour is particularly sensitive to problems in brain networks caused by neurological conditions like autism spectrum disorders (ASD).

The ability to interact socially depends on a network of brain regions spread across both the cortex (like the medial prefrontal cortex, anterior cingulate cortex, and insular cortex) and subcortical areas (such as the nucleus accumbens, basolateral amygdala, and ventral tegmental area). These areas are influenced by several brain chemicals, including oxytocin, dopamine, and serotonin.

The insular cortex (IC) is especially important, as it helps process different senses, understand social interactions in real-time, make decisions in social settings, and experience emotions and empathy.

Research on ASD in mouse models shows that disruptions in the connections between the medial prefrontal cortex (mPFC) and the basolateral amygdala (BLA), along with issues in how brain chemicals are regulated, play a major role in social difficulties.

Recent studies on bats and mice have even found that brain activity can synchronise between individuals during social interactions, offering insights into potential therapies for social dysfunction.

For more information, see the study from Nature here.

Limitations in How Humans Are Being Tested and Diagnosed

Studies²¹ examining public knowledge of autism have found that while many people have heard of autism, their understanding is often superficial. For instance, participants across multiple studies admitted they weren’t confident in the depth of their knowledge and often believed in myths and stereotypes, such as the idea that all autistic people have special talents or are highly intelligent.

Research has also identified significant barriers to obtaining an autism diagnosis in girls and young women²² ²³ ²⁴. One reason for this is that current screening and diagnostic criteria were developed based on the observation of autistic boys by researchers like Kanner and Asperger in the 1930s and 1940s²¹. As a result, these tools may not be as effective for identifying autism in females, and experts suggest they need to be adapted to improve diagnosis for girls and women²⁶.

Concerns have also been raised about the limitations of current diagnostic tools for autism. One paper notes that too much emphasis on specific test scores has shifted focus away from the original goal of these tools, which was to help clinicians gather useful information about social communication, play, and repetitive behaviours for diagnosis and treatment planning. The tools were not intended to provide a definitive diagnosis.

A systematic review of research up to 2020 found that studies have often involved very different populations, making direct comparisons difficult. For example, some studies recruited participants from clinical settings, while others used community samples or included individuals with high autism traits who didn’t meet clinical diagnostic criteria. Additionally, most studies involved disproportionately male samples, with around 80% of participants being male, further complicating the understanding of autism in females.

Conclusion

In conclusion, current research highlights significant differences in how autism spectrum disorder (ASD) manifests in females compared to males, which has led to challenges in both recognition and diagnosis. Autistic females often exhibit more subtle traits, such as less pronounced social communication difficulties and repetitive behaviours, and many engage in camouflaging strategies to mask their autistic characteristics. These differences, combined with diagnostic tools historically developed based on observations of males, have contributed to the under-recognition of autism in girls and women, often resulting in misdiagnosis or a complete lack of diagnosis.

The literature underscores the need for updated screening and diagnostic criteria that account for the unique ways in which autism can present in females. Additionally, greater public awareness is required to combat misconceptions and stereotypes about autism, which further hinder understanding and appropriate identification. Future research must include more balanced gender representation and consider the distinct challenges that females face, ensuring that both clinical and social supports are more suitably tailored to their needs. Addressing these gaps will improve the diagnosis, treatment, and overall wellbeing of autistic females.