Research Highlights: A New View on Autism

Researchers at Children’s Hospital Los Angeles are focused on developing new diagnostic tools for children who have both developmental and visual challenges. Optic nerve hypoplasia (ONH) is a visual impairment often associated with developmental delay and autism spectrum disorders (ASDs).

Mark Borchert, MD, an eye specialist at Children’s Hospital, estimates that nearly a third of children with ONH also have an ASD. Many behaviors in visually impaired children resemble ASD symptoms—such as repetitive speech, pronoun reversal, singsong language and ritualistic movements. Often these behaviors are termed “blindisms” and attributed solely to diminished sight. Complicating the diagnosis is the fact that many screening methods for autism rely on visual cues such as making eye contact—problematic for children with poor vision.

Borchert’s solution: a diagnostic tool that doesn’t depend on a child’s ability to see. The study team has modified existing instruments that screen for autism to eliminate vision dependent tests. This included replacing small toys with larger or lighted toys, as well as finding non visual responses, such as turning toward a person’s voice instead of pointing.

So far, the modified test has proven effective in predicting ASD in a small number of children with ONH. The next step is to enlarge the study. This innovative new strategy will help children receive a diagnosis sooner and enable them to get the care that they need. Borchert is working toward that goal. “It will make a huge difference in the lives of all children, including those with a visual impairment,” he says.