Autism Spectrum Disorder

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Article initiated by:

Sanjana Jaiswal, Taimur Siddiqui BSA, BBA

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Andrew Go Lee, MD, Taimur Siddiqui BSA, BBA, Jaden Ju, reagan.mcginley, Sanjana Jaiswal

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This article summarizes the unique risk factors, ocular manifestations, and care delivery practices of individuals diagnosed with Autism Spectrum Disorder.

Autism Spectrum Disorder in Ophthalmology

Autism spectrum disorder (ASD) is an early-appearing neurodevelopmental disorder, characterized by social communication deficits and restricted, repetitive behavioral patterns. The specific DSM-5 criteria can be found here, but will not be discussed in detail in this article. The etiology of ASD is poorly understood, however, a variety of genetic and environmental factors related to early brain development are believed to contribute, The prevalence of ASD is about 1 in 36 children with boys being 4 times as likely as girls to be diagnosed. ASD encompasses a wide range of conditions and patient presentations, leading to difficulties in diagnosis and management.

Individuals  with ASD are at risk for various ophthalmologic disorders. The incidence of ocular pathologies such as refractive errors, amblyopia, and strabismus is higher in children with ASD. Due to poor cooperation and impaired communication, ocular pathologies are often overlooked and underdiagnosed. In fact, 15-25% of children with ASD become non-verbal, which requires providers to adjust their practice to ensure equity for this at-risk population. Ophthalmologists must be aware of these challenges and build effective practices to manage patients with ASD.

Ophthalmologic Risk Factors in Autism Spectrum Disorder

Autism spectrum disorder is associated with many ocular pathologies, the most common among them being refractive error and amblyopia,  difficulties in facial recognition and tracking, and optic neuropathy.

Refractive Error and Amblyopia:

• Refractive errors were found in up to 42% of children with ASD
• Strabismus is commonly found in patients with ASD, potentially due oculomotor dysfunction and atypical processing of visual tracking
• Amblyopia is commonly found in those with ASD
• Reduced peripheral vision has been found in those with ASD

Cortical Facial Recognition and Tracking:

• Facial recognition difficulties have been found in those with ASD, theorized to be due to abnormalities in the development of the fusiform gyrus
• Atypical gaze patterns have been commonly found in those with ASD, such as avoiding eye contact and focusing on other areas of the face

Deficits in Color Vision:

• Color discrimination difficulties are commonly found in ASD, potentially due to changes at the retinal level or differences in visual processing.  This may be due to impaired S-cone photoreceptor function and altered activity in retinal ganglion cells, as well as atypical processing in the magnocellular and koniocellular systems

Congenital vs Acquired Optic Neuropathy:

• Food selectivity in diet can cause deficiencies in vitamins such as vitamin A and B12, which have associations with optic neuropathy
• Can also occur secondary to hydrocephalus or congenital optic nerve hypoplasia. ASD is highly prevalent in children with ONH

Assessing Vision in Children with Autism Spectrum Disorder

Vision Screening Recommendations

Children with neurodevelopmental disorders, including ASD, are at an increased risk of visual issues such as refractive error, strabismus, and amblyopia. In addition to normal screening guidelines for any child, The American Academy of Ophthalmology (AAO) recommends that these children be referred to an ophthalmologist for a comprehensive eye examination. However, children with ASD are less likely to receive proper vision screening during routine well-child visits and make appointments with ophthalmologists due to challenges with cooperation and communication.

To address this, the AAO’s Pediatric Eye Evaluation Preferred Practice Pattern advises the use of automated or instrument-based screening protocols that are more likely to be successful in testing children with ASD. Tools such as photoscreeners and handheld autorefractors minimize the need for verbal instruction and active participation, which can be difficult for children with varying severity of ASD.

Best Practices for Vision Screening in Children with ASD and Verbal Communication Deficits

Effective screening of non-verbal children with autism requires an individualized approach. Best practices include utilizing protocols tailored to the individual child’s communication levels and behavior.

Specialized Exam Protocol: Communication

Communication is a major barrier in traditional exams, so alternative methods are necessary. For children who have difficulty with live communication, they can be provided with familiar communication devices that they use habitually  like an iPad to communicate “yes” or “no.” Providers should ask short, simple questions that have easy-to-understand answers. Providers should speak slowly, allowing the child adequate time to process the information and respond. Additionally, the examination should take place in a quiet, distraction-free, low-light environment to help the child remain focused and reduce sensory overload.

Specialized Exam Protocol: Visual Aids and Social Stories

Visual aids and social narratives can greatly improve cooperation during an eye exam. Providing images that depict how a child participates in the exam alongside verbal instructions helps bridge communication gaps. Developing a “social story” about the doctor’s visit, including descriptions of who the doctor is and what the child can expect, helps prepare the child in advance. Repeated exposure to these materials builds familiarity and reduces anxiety, which can decrease the likelihood of tantrums or behavioral meltdowns. Modeling positive, interactive behavior within these stories also encourages cooperation. A visual schedule featuring photos of each step in the screening process should be available and used during the visit to help guide the child through the experience. These tools require parental cooperation before and after the visit.

Specialized Exam Protocol: Behavioral Techniques

Behavioral strategies such as shaping and high-probability/low-probability request sequences are useful tools for facilitating child cooperation. Shaping involves gradually guiding the child toward the desired behavior by breaking the task into smaller, manageable steps. For example, before performing a full eye exam, a provider may begin by shining the indirect ophthalmoscope beam on the patient’s leg. Once the child tolerates that, the provider moves to the shoulder, then to the face, and finally to the eyes—the ultimate goal. Starting with high-probability requests (tasks the child is likely to complete) helps build momentum before progressing to low-probability requests (more difficult tasks). This sequential approach increases the likelihood of successful participation in the full vision exam.

Example of social story to familiarize child with ophthalmologist. Credit to Coulter et al 2015.

Example of visual schedule of ophthalmology visit to help child learn what to expect during a visit, increasing cooperation. Credit to Coulter et al 2015.

Use of Oral Midazolam to Increase Screening Success

In cases where behavioral and communication strategies are not sufficient, pharmacological intervention may be warranted. A single-center retrospective cohort study demonstrated that oral midazolam—administered at 0.5 mg/kg, up to a maximum dose of 15 mg—significantly improved the success rate of ophthalmologic examinations. The completion rate rose to 98% in children who were previously unexaminable, indicating that midazolam is a valuable adjunct for increasing compliance in challenging cases.

The Role of Parental Questionnaires

When a complete ophthalmologic examination cannot be performed or does not yield sufficient information, parental input becomes an essential component of the evaluation. Parents often have a deep understanding of their child’s visual behaviors and sensory experiences. Structured questionnaires can help clinicians gather insights into how the child interacts with their environment visually. This information can provide a more holistic picture of the child’s visual function and guide further evaluation or intervention when direct examination results are limited.