Autism doesn’t always look the way clinicians expect it to. The classic model — a socially withdrawn boy with repetitive interests and little eye contact — has dominated both public perception and diagnostic tools for decades. But many women on the spectrum don’t fit this mold. And because of that, they are missed.
From a young age, girls are encouraged — even biologically primed — to notice social cues. Historically, this skill may have helped women interpret the needs of infants or detect subtle threats. Social behavior, empathy, and emotional mirroring are more strongly reinforced in girls, both genetically and culturally.
For autistic girls and women, this means that social difficulties are rarely obvious. Instead of being isolated, many are quietly exhausted from the ongoing effort to “act normal.” They make eye contact — but it’s forced, rehearsed. They mimic tone, gesture, posture — but it drains them. This is called masking, and it is both a survival strategy and a source of profound internal distress.
One of the most common myths about autism is that autistic people don’t make eye contact. While this may be true for some, many autistic women do make eye contact — intentionally.
For them, it’s not a natural reflex but an active cognitive task. They learn when to look, how long, and when to look away. It is a constant performance. And like any performance, it has a cost: mental fatigue, stress, and a lack of presence in the actual interaction.
Like autistic boys, girls on the spectrum often have intense special interests — but theirs are less likely to be noticed. While a boy obsessed with trains may be flagged as atypical, a girl obsessed with ancient mythologies, types of leaves, or patterns in human behavior may be seen as “just curious” or “deep.”
These interests can be just as consuming, detailed, and rule-based. And yet, because they may appear more socially acceptable, they often go unrecognized as part of the autistic phenotype.
Interestingly, many autistic girls and women notice patterns in objects — faces, tiles, symmetry — but struggle with recognizing emotional expressions on human faces. This can lead to confusion in social situations and difficulty navigating friendships, even if they appear socially competent on the surface.
In boys diagnosed with autism, genetic testing more frequently reveals identifiable pathogenic variants — including copy number variants (CNVs), single nucleotide variants (SNVs), and deletions or duplications on chromosomes such as 16p11.2 or 22q11.2. These structural anomalies can disrupt key neurodevelopmental pathways involved in synaptic function and brain connectivity.
In girls, however, the picture is more complex.
Studies have shown that many autistic girls do not exhibit the same pathogenic variants seen in boys, or their genetic findings fall under VOUS — Variants of Uncertain Significance. These are changes in the genome that may or may not have clinical relevance, and are often dismissed or overlooked.
This discrepancy doesn't mean their autism is less severe or invalid. In fact, many researchers now believe that females require a higher cumulative mutational burden — sometimes called a “female protective effect” — to reach the same clinical threshold for autism as males. In other words, autistic girls might carry fewer or subtler mutations, but still experience substantial neurodevelopmental challenges due to compounding epigenetic, environmental, and polygenic factors.
This also explains why standard diagnostic tools, which rely heavily on observable behaviors (often male-typical), frequently fail to identify autistic women. The absence of a “clear” genetic marker reinforces the false assumption that their presentation is milder — when in reality, it’s simply different.
We must move away from the binary of “visible gene = real autism.”
Clinical reality is not always visible in a karyotype.
Autistic women don’t look like the textbook case. They function — until they don’t. They smile — but collapse alone. They succeed — but pay a hidden price.
As clinicians, we must update our lens. Masking is not success. Eye contact is not instinct. And burnout is not personality. We owe these women recognition, accuracy, and compassion.