Verified by 
Key points
- Overemphasis on a single symptom, such as eye contact, can lead to misdiagnoses of neurological conditions.
- The absence of a particular symptom does not necessarily rule out a condition.
- A missed autism diagnosis can prevent a child from receiving critical early interventions.
A pediatrician colleague of mine noticed some developmental issues in her son at a very young age. She was reassured by numerous specialists that his development was on track and that her concerns about autism were unfounded. The sole reason: He was making eye contact, something many individuals with autism don’t do. It wasn’t until several years later that another developmental specialist finally did diagnose him with autism co-occurring with ADHD, OCD, and anxiety.
Unfortunately, this is a common story in my pediatric neurology practice: Parents’ early-stage developmental concerns are dismissed by their primary care providers because their child’s symptoms and/or behaviors don’t fit the textbook description of a particular condition.
This trend reflects a pervasive overemphasis on single symptoms, like eye contact, in diagnosing neurological conditions such as autism. Autism is a spectrum disorder with diverse manifestations, and no two individuals are alike. To quote Dr. Stephen Shore: “If you've met one individual with autism, you've met one individual with autism.”
While a standout symptom such as abnormal eye movements or the unwillingness to maintain eye contact can be informative when diagnosing neurological conditions, pediatricians and parents alike must recognize that the absence of such a symptom does not necessarily rule out a condition. Rather, more often than not, further evaluations are needed to make accurate diagnoses.
A Window to the Brain
We neurologists often tease ophthalmologists that the eyes are actually our expertise, as the retina is composed largely of neurons and eye movement is controlled by the cranial nerves.
Indeed, the eyes are often described as the "windows into the brain”—subtle eye movements, pupil dilation and constriction, and the higher cognitive control of gazes can offer valuable insights into patients’ neurological functioning.
Although reliance on eye tracking and other methodologies for measuring eye movement abnormalities, such as pupillometry, are limiting and risk significant misdiagnoses, this data can still be used to bolster evaluations of autism, concussions, and more, with additional research already underway on other diagnostic possibilities that might help detect subtle neurological nuances.
Absence of Symptoms
Eye-tracking technology is used in autism diagnosis to analyze how individuals process visual cues and information, revealing distinctive patterns that may differ from those of individuals developing neurotypically. However, while many individuals affected by autism exhibit these behaviors, some might not display them prominently or at all. In fact, girls with autism have been noted to mask eye contact-related symptoms more effectively than boys and, despite what many think, only about 50 percent of all individuals with autism actually avoid and/or struggle with making eye contact.
As such, symptoms like a lack of eye contact can vary widely among individuals, and absence alone cannot be used to rule out a condition conclusively.
Autism diagnosis is not the only realm where this is the case.
Similar eye-tracking tests offer a rapid, straightforward, and noninvasive method for evaluating concussions: 80 percent of concussed athletes show some eye movement dysfunction. But that still leaves a significant number of people whose eyes won’t show symptoms of a concussion, which belies the need for more thorough diagnostic testing.
Conditions like schizophrenia or dyslexia, both of which can be detected through eye tracking, manifest with a wide range of symptoms. Diagnosis solely through eye tracking or through a lack of notable eye abnormalities might oversimplify these complex disorders, neglecting other critical symptoms—hallucinations and blunted emotions, phonological awareness, spelling difficulties, to name just a few.
It is important to note that even in instances where eye tracking does indicate the presence of a concerning condition, thorough follow-up evaluations are still needed to provide the best diagnosis and treatment possible.
Consequences of Single-Symptom Diagnosis
Missing an autism diagnosis, particularly in very young children, is extremely detrimental. It prevents a child from receiving critical early interventions in the neurodevelopmental window during which they could have the greatest impact.
Concussions are traumatic cranial injuries—literally bruises on the brain. If left undiagnosed and untreated, concussions can yield mild prolonged symptoms such as headaches, dizziness, and confusion, and can lead to more serious long-term mental health issues. Additionally, a second concussion occurring before the first one has healed can lead to severe brain swelling, permanent brain damage, or even death.
Finally, schizophrenia is a severe mental health disorder that affects the ability to think clearly, manage emotions, make decisions, and relate to others. If left untreated, it can lead to a significantly higher risk of harm to oneself or to others, among other dangers.
The risk of all these “worst case scenarios” rises sharply if clinical professionals interpret the lack of abnormal eye behavior—or of any single symptom—as an absence of the disorder.
Eyes on the Prize
While eye tracking offers valuable insights into evaluating several serious conditions, it cannot be the only diagnostic method. Only a multifaceted approach will enhance the accuracy and effectiveness of medical diagnoses across various conditions.
Consider the case of my colleague: Because multiple doctors did not look past the absence of a single "textbook" symptom, her child missed out on years of crucial, potentially life-changing therapies during the neurodevelopmental window in which interventions have the most impact.
I would always encourage seeking a second opinion for anyone who feels their concerns have not been thoroughly addressed or if an evaluation or diagnosis is based solely on the presence or absence of a single symptom, such as lack of eye contact.
Every patient is different. Every diagnostic tool is different. Parents should feel comfortable demanding more for their children.
