Funds raised will be donated directly to SickKids Hospital and Dr. Jacob's Vorstman's research into autism. Dr. Vorstman's research focuses on early intervention programs for children genetically at risk for autism. For more information about Dr. Vorstman's research into autism, visit Jacob Vorstman | SickKids Directory
Program Description:
In Canada, 1 in 66 children and youth live with autism spectrum disorder (ASD): 56 per cent are diagnosed by age 6, and 90 per cent by 12. Across Ontario, over 100,000 families are affected. Despite research advances, there are still no medicines to treat ASD’s core communication, social, sensory, and developmental challenges. Genetics plays a role, yet 80 per cent of families with ASD do not have a genetic diagnosis. Not knowing the full spectrum of autism and its genetic determinants means that many children with ASD are unable to get the help they need early in life to reach their full potential.
SickKids is a leading centre for genomic medicine in North America. Genomic research at SickKids has shown that the genes involved in autism may differ for every person. This high degree of heterogeneity and complexity demands diagnosis and treatment as unique as the individual. SickKids is advancing knowledge of ASD on several fronts and translating the findings into novel diagnostic tests, potential therapies, and supports to patients and families. Over the last decade, genetic testing has been implemented increasingly as part of routine diagnostic investigations for children with physical health concerns. Meanwhile, observations from genetic research have established that a large proportion of human genes associated with congenital abnormalities, such as cardiac or palate defects, are also associated with brain development. The clinical consequence of this phenomenon, known as “pleiotropy”, is that in newborns and infants tested for a physical problem, genetic testing may reveal a variant that predicts that an increased risk for neurodevelopmental outcomes such as learning/intellectual challenges and/or autism spectrum disorder. Given that genetic testing increasingly occurs in very young children (i.e. during the first few months of life), the genetic risk for autism and/or intellectual disability can be revealed before concerns about childhood development or behaviors arise. As a result, clinicians and parents are struggling with how best to manage the clinical consequences of genetic testing. Our team recently investigated the frequency of this phenomenon. We found that genetic testing for a physical condition at SickKids over the past years yielded clinically relevant risk for neurodevelopmental outcomes in almost half of diagnostic results.