Project Description

Challenge

Kids in Canada with autism spectrum disorder do not usually receive a diagnosis until the age of four, which is unfortunate given that intervening in early childhood is shown to improve outcomes.

Project Summary

To help families seize this missed opportunity, researchers involved with the ASD Demonstration Project from KBHN worked to find ASD-related behavioural traits in kids as young as 12 months. The same project also aimed to find genetic and neurological biomarkers that could help to diagnose an infant or preschooler. However, behaviours remains an essential part of the equation, especially since parents can flag actions themselves, without high-tech medical tools.

Result

Babies who later get diagnosed with ASD may show impaired or atypical patterns of visual attention, motor control and use of play materials (e.g. repetitive actions). Although they are too young to speak, they may still show social-communication impairments; they might not return a smile, for instance. Compared to other infants, they may feel distressed more frequently, and it can be hard to soothe them. These discoveries informed a questionnaire to help parents to screen for ASD risk .

Investigators also explored how the reciprocal relationships between early ASD-linked behaviours might lead to core symptoms. For example, emotional-regulation challenges may relate to difficulties in disengaging and shifting attention. Both could impact joint attention skills (being able to share a focus on something with someone else), an essential component of communication.

Among infants who had an older sibling with ASD, roughly half of those who showed early ASD traits did not go on to meet the full criteria for autism. This finding suggested there may be a broader autism phenotype – a set of observable characteristics related to genetic factors, environmental factors and their interplay. Researchers were excited to investigate whether the environmental side of the phenotype can change if one targets early ASD symptoms with therapies such as Social ABCs.

Team

Investigators

Project Leaders

Lonnie Zwaigenbaum, University of Alberta
Stephen Scherer, University of Toronto

Co-Investigators

Peter Szatmari, McMaster University
Eric Fombonne, McGill University
Michael Brudno, University of Toronto
Sal Carbonetto, McGill University
Anne Marie Craig, University of British Columbia
Krista L. Hyde, McGill University
Alan Evans, McGill University
Evdokia Anagnostou, University of Toronto
Geoff Hall, McMaster University
Susan Bryson, Dalhousie University
Isabel Smith, Dalhousie University
Wendy Roberts, University of Toronto
Jessica Brian, University of Toronto
Joanne Volden, University of Alberta
Pat Mirenda, University of British Columbia
Anthony Bailey, Warneford Hospital
Tracy Vaillancourt, University of Ottawa
Fiona Miller, University of Toronto
David Nicholas, University of Calgary
Bridget Fernandez, Memorial University

Collaborators

Andrew Paterson, The Hospital for Sick Children, Toronto
John Vincent, Centre for Addiction and Mental Health
David Stellwagen, McGill University Health Centre
Margot Taylor, Holland-Bloorview Kids Rehabilitation Hospital, The Hospital for Sick Children, University of Toronto
Larry Tuff, McMaster Children’s Hospital, Hamilton Health Sciences
Eric Duku, McMaster University
Marc Woodbury-Smith, McMaster University
Mandi Steinman, Montreal Children’s Hospital
Keith Goulden, Glenrose Rehabilitation Hospital
Margaret Clarke, Child Development Centre, Calgary
Charlotte Waddell, Simon Fraser University
Veronica Smith, University of Alberta

Partners

Applied Biosystems
Illumina Inc.
DNA Genotek Inc.
NIH Autism Sequencing Consortium
Ontario Research Fund GL2 grant for autism genomics
Women and Children’s Health Research Institute
Sinneave Family Foundation
Autism Speaks Canada
Autism Research Training Program