Genetic Testing History in Adults With Autism Spectrum Disorder.
An EMR recipe can spot Ontario adults with autism and shows they use more medical and mental-health care.
01Research in Context
What this study did
The team built a computer recipe that scans family-doctor records across Ontario. It flags adults who likely have autism.
They ran the recipe on every adult record in the province. Then they counted how many people it caught and checked what other health problems those people had.
What they found
The recipe spotted autism in about 1 out of every 100 adults. That is close to the real rate experts expect.
Flagged adults went to the doctor more often. They also had more asthma, surgeries, and stays in psychiatric hospitals than other adults.
How this fits with other research
Garwood et al. (2021) tried a similar recipe on kids but only caught half of the cases. The new adult recipe works better, so it replaces the old one.
Özmeral Erarkadaş et al. (2026) looked at the same Ontario adults who need daily help. They found good medical health and mid IQ predict living skills. The target paper shows why medical check-ups matter for this group.
Mulder et al. (2020) found that one third of Ontario youth with autism had a mental health crisis. The target paper adds that these crises often end in hospital stays, explaining the higher admission numbers.
Why it matters
You now have a fast way to count adults with autism in any Ontario clinic list. Use the numbers to plan extra appointment slots, asthma screens, and mental-health check-ups. Flag high users so you can teach coping skills before crisis hits.
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02At a glance
03Original abstract
Autism spectrum disorder (ASD) is a neurodevelopmental disorder requiring significant health and educational resources for affected individuals. A reference standard for ASD was generated from an existing population-based cohort of 10,000 children and youth aged 1-24 years who were randomly selected for chart abstraction from 29,256 patients from 119 family physicians. We developed and validated an algorithm to identify children and youth with ASD within an electronic medical record system (N = 80,237, aged 1-24 years) in order to examine the prevalence of comorbidities and quantify health system utilization within the cohort. We identified 1,062 children and youth with ASD representing a prevalence of 1.32%. Compared to individuals without ASD, those with ASD had a higher prevalence of asthma, were more likely to visit a specialist, undergo surgery, and be hospitalized for psychiatric reasons. Children and youth with ASD in Ontario have complex health system needs, illustrated through a significant burden of comorbidities and increased health system utilization. LAY SUMMARY: Our paper generates population-based estimates of health system use by children and youth with ASD, who have a higher burden of comorbidities than the general population. We developed a case-finding algorithm and applied it in electronic medical records to create a cohort of children and youth with ASD, thereby generating an important resource to further study the health care needs of individuals with ASD.
Journal of autism and developmental disorders, 2026 · doi:10.1093/aje/kwh090