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Dr. Melanie Penner
New study finds general pediatricians can accurately diagnose autism in children

Study findings hold promise in building more system capacity to reduce long wait times for autism assessments

General pediatricians can accurately diagnose autism in some children, especially if they feel confident in the diagnosis, which can reduce long wait times for autism assessments, finds a new study led by Holland Bloorview Kids Rehabilitation Hospital.

The study is published today by the peer-reviewed medical journal, Journal of the American Medical Association.

“Many children and their families are waiting too long for autism (ASD) diagnostic assessments,” says Dr. Melanie Penner, the study’s lead author and a senior clinician scientist at Holland Bloorview’s Bloorview Research Institute. “We know from research that the earlier a diagnosis is given, the earlier the child can receive therapies to help improve their communication skills, as well as social and emotional learning. They can also have access to various services and government programs such as the province’s Ontario Autism Program.”

According to Autism Ontario, families in Ontario, on average, spend up to one year on a waitlist for an autism diagnosis. Even after the diagnosis, they can expect to wait from three months to two years to access services from various providers.

Traditionally kids suspected of having autism are often referred by their family pediatrician to a sub-specialist, such as a developmental pediatrician whose focus is autism. But because of the dearth of these sub-specialists and the prevalence of autism (1 in 66 children and youth diagnosed with ASD in Canada), the wait time to see a specialist can extend from months to years.

Dr. Penner’s study findings can be a game-changer in cutting down wait times and helping families get an autism diagnosis faster in their local community.


Dr. Penner and her co-investigators enrolled 17 general pediatricians across Ontario and 106 children under five and a half years with developmental concerns, but who did not have an existing diagnosis.

Each pediatrician conducted an assessment of each child individually for any signs of autism by taking their medical history, observing their behaviour using diagnostic criteria outlined in the DSM-5, or the Diagnostic and Statistical Manual of Mental Disorders, an official guide for healthcare providers to diagnose mental health disorders.

The same group of 106 children were also assessed independently for autism by a specialist team within four weeks of the pediatricians’ assessments.

To ensure the utmost rigor in the study, the order of the assessments by both the general pediatricians and the specialist teams were evenly mixed randomly, so half of the children were first seen by the pediatrician while the other half were initially assessed by a specialist team.

The team also looked for features that were associated with getting an accurate general pediatrician diagnosis, including the child’s age, gender, racial/ethnic background, degree of autism features, and other developmental delays (ie language or cognition). In addition, the researchers looked at how confident general pediatricians felt about their autism assessment of the child.


When the general pediatricians felt confident that their autism diagnosis of the child was correct, they were right 90 per cent of the time.

However, when they ruled out autism as a diagnosis, they were right only 60 per cent of the time.

“If pediatricians in the community feel confident that autism is present, let’s support them in making this diagnosis so the family doesn’t have to wait for a sub-specialist. However, they need to be more cautious if they are ruling out autism in a child, particularly if a family has concerns,” says Dr. Penner, who holds the Bloorview Childrens Hospital Foundation Research Chair in Developmental Pediatrics.

In addition, when the children in the sample had other developmental delays, the general pediatricians were more likely to give an accurate autism diagnosis, a result which Dr. Penner found slightly surprising.

“Traditionally these cases tend to be more complex and would involve a sub specialist, but based on this finding, we might want to re-think this process now,” says Dr. Penner, who is part of the hospital’s Autism Research Centre and an associate professor at the University of Toronto’s Department of Paediatrics.

Key Take Aways

Dr. Penner encourages pediatricians to learn more about autism and feel more comfortable in providing an autism diagnosis to families. She is currently working with community-based pediatricians and other health care providers from across Ontario through a provincially-funded program called ECHO Autism to build capacity in the process of screening, diagnosing and managing autistic children and youth in Ontario.

As for parents who are noticing differences in their children’s development and think their child could be autistic, she says there are several paths to access an autism diagnosis. “Think about going to your local pediatrician who may be able to provide an accurate diagnosis. This way, you can get access to services sooner at an earlier age, instead of waiting for a sub-specialist. Research has shown that earlier therapy leads to improved communication skills and better social and emotional learning. That said, in some cases, we do need sub specialists to help figure out the diagnosis. This research helps us to figure out which type of assessment might be right for a given child, in the hopes of making our whole system more efficient.”

The study’s co-authors are: Lili Senman, Holland Bloorview; Lana Andoni, University of Massachusetts; Annie Dupuis, University of Toronto; Dr. Evdokia Anagnostou, Holland Bloorview and University of Toronto; Dr. Shawn Kao, Pediatricians Alliance of Ontario; Abbie Solish, Holland Bloorview; Dr. Michelle Shouldice, University of Toronto and Hospital for Sick Children; Genevieve Ferguson, Holland Bloorview and Jessica Brian, Holland Bloorview and University of Toronto.

The study, Concordance of diagnosis of autism spectrum disorder made by pediatricians versus a multi-disciplinary specialist team, has been generously funded by the Canadian Institutes of Health Research and by Bloorview Research Institute.