Challenge Right now, autism spectrum disorder is diagnosed based on behaviours and developmental delays, not neurobiological markers. If we knew more about autism’s basis in the brain, this might allow children to get a diagnosis sooner. Project Summary KBHN has played a crucial role in identifying genetic variants associated with ASD as part of its [...]
The ASD Demonstration Project: Next-Generation Genome Sequencing and Identification of Rare DNA Variants
Nicolas Turgeon-Morin2023-10-19T10:48:10-08:00Challenge Autism spectrum disorder often runs in families. For example, identical twins of people with ASD have roughly a 60 percent chance of having it as well while siblings have a 20 percent chance. This statistic points to genetic risk factors. But which gene variants increase susceptibility to ASD? Moreover, how do genes influence the [...]
Focusing on Strengths Rather than Deficits in FASD Interventions (OIP)
Nicolas Turgeon-Morin2023-10-19T10:48:33-08:00Challenge Approximately 1 in 100 children per year affected by prenatal alcohol exposure. These estimates translate to thousands of affected infants born each year with Fetal Alcohol Spectrum Disorder (FASD). Intervention programs for children with FASD have traditionally focused on addressing deficits in cognitive ability and intellectual capacity, or on adapting social behaviours. Such programs [...]
The ASD Demonstration Project: Clinical Utility Studies
Nicolas Turgeon-Morin2023-10-19T10:48:53-08:00Challenge An autism spectrum disorder diagnosis gives parents and guardians only an idea of what to expect in the years to come. Even when children start with similar abilities and disabilities, they can go on to develop in a wide variety of ways, with different speeds of skill progression and various additional health conditions. Unfortunately, [...]
The ASD Demonstration Project: Identifying Early Behavioural Biomarkers
Nicolas Turgeon-Morin2023-10-19T10:49:22-08:00Challenge 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 [...]
The Knowledge – Translation Core
Nicolas Turgeon-Morin2023-10-19T10:52:12-08:00Challenge It is no secret that there is often a gap between published evidence and the support that children with neurodevelopmental disabilities receive. For years, many researchers have struggled with how to translate knowledge into impact and have often carried out research without keeping this in mind. What resulted was a multitude of research and [...]
The ASD Demonstration Project: Sleep: A Comorbidity Across Disorders
Nicolas Turgeon-Morin2023-10-19T10:52:26-08:00Challenge Upward of 90 percent of children with neurodevelopmental disabilities (NDDs) have sleep issues, compared to just a quarter of typically developing children. The toll on their well-being—and their families’ quality of life—can be severe. Project Summary In 2013, ASD investigators affiliated with KBHN teamed up to guide the national research agenda on this issue, [...]
The ASD Demonstration Project: Translation of Genomic Discoveries into Clinical Practice
Nicolas Turgeon-Morin2023-10-19T10:52:46-08:00Challenge A person’s genome could contain useful information about their risk of autism spectrum disorder, but how should genome sequencing be used in diagnosis, genetic counselling and patient management? What treatments and follow-ups should come after what kinds of test results? And how should these very complex and sometimes ambiguous results be conveyed? How can [...]
Gaining a Better Understanding of Perinatal Stroke
Nicolas Turgeon-Morin2023-10-19T10:53:06-08:00Challenge The time around birth (known as the perinatal period) poses a high risk of stroke for children. One of the leading forms of cerebral palsy (CP) called hemiplegic CP, is often a result of these perinatal strokes. Despite this, perinatal stroke has been largely understudied, and limited treatment options or prevention strategies exist. Project [...]
Discovering Genes that Play a Role in Autism Spectrum Disorders
Nicolas Turgeon-Morin2023-10-19T10:53:26-08:00Challenge Mounting evidence has shown that genetics play a role in Autism Spectrum Disorders (ASD). While genetics does not determine that an individual will develop autism, it can increase the risk. Researchers have discovered genes that determine properties of synapses—a junction between two nerve cells that fuses a connection between them—as potentially playing a role [...]