Autism spectrum disorder: Guide for physicians to help families

"We have come to understand ASD as a remarkably heterogeneous constellation of conditions that covary with other disabilities and disorders (e.g., intellectual disability, epilepsy, ADHD, anxiety disorders) and various medical problems," writes Dr. Stephen Scherer, senior scientist and director of The Centre for Applied Genomics at The Hospital for Sick Children (SickKids) and director of the McLaughlin Centre at the University of Toronto, with coauthors. "Recent discoveries of underlying genomic factors have shown great complexity and implicate various networks of causal factors."

ASD, which includes a variety of traits that range from mild to severe, is estimated to affect about 1% of the population, although it is under-recognized in the developing world.

The review, by specialists in pediatrics, psychiatry, epidemiology, neurology and genetics from across Canada, outlines the current understanding of ASD and best practices for pediatricians, family doctors and specialist clinics, and identifies resources for clinicians.

Topics include:

• What causes autism?
• How is ASD diagnosed?
• How can ASD be detected early?
• What other illnesses or conditions are associated with ASD?
• What treatments and interventions are available and effective?

"Community physicians play an essential role in identifying early signs of ASD and ensuring timely diagnosis," write the authors. "The greatest impact on outcome will come from careful attention to parents' concerns, observing early social and communication skills (e.g., interaction with parents and response to simple social games), immediate referral to available intervention services (e.g., infant development and/or speech-language services, and timely referrals for specialized assessments and interventions."

The authors describe "red flags" for autism as well as best practices for treatments, which include behavioural interventions such as applied behaviour analysis. This technique uses a variety of approaches to teach children skills to reduce problem behaviour.

They also touch upon future directions for understanding the disease.

"New experimental therapeutics hold promise for the treatment of core symptoms and have the potential to alter developmental trajectories. Treatments in animal models carrying single gene mutations for disorders associated with ASD are particularly promising. Future research should focus on how we can better match interventions to child and family characteristics through personalized medicine over the lifetime of the patient," the authors conclude.