If your child has a diagnosis of autism or is at risk for autism, it is important to look for signs or clues that can help tell if there is an underlying genetic cause. Letting your doctor know if you see these signs can help them correctly diagnose and ultimately treat your child.

Important Signs Associated with Autism

Many children with autism have other concerns because the underlying genetic cause can affect more than one body system. Some signs are hidden (e.g., heart problems) and some are easy to spot (e.g., seizures, larger head size). Parents and caregivers are often the first to notice and speak up about it.

The following signs in children with autism may increase the likelihood that a genetic change is present in the body. In other words, someone with one of the following is more likely to have an underlying genetic cause:

Low Cognition Level

Deficits in cognitive functioning (IQ<70) (i.e., intellectual disability) can occur in 50-70% of children with autism

Developmental Regression

~30% of children with autism lose an acquired skill (e.g., social and communication skills) or fail to progress after a period of relatively normal development

History of One or More Seizure(s)

Seizures develop in approximately 25% of children with autism

Family History

Many children with autism will have first and second degree relatives with autism spectrum disorder, developmental disabilities or psychiatric problems

Uncommon Physical Features

15-20% of children with autism have birth defects (e.g., heart defects or cleft in the lip or roof of mouth), slight physical malformations (e.g., large ears that are lower-set on the head, eyes that are more widely-spaced), growth problems (e.g., failure to gain height and weight) and macrocephaly (e.g., larger than expected head size)

Not meeting developmental milestones may also suggest an underlying genetic cause

Complete this questionnaire (adapted from the CDC developmental milestone checklist) to see if your child has risk of developmental delay and needs further assessment by your doctor.