Background: ASD is a disabling and common neurodevelopmental disorder which begins in childhood. Although some clinical features may be evident very early in life, children with ASD are not diagnosed reliably until they are at least 3 to 4 years of age, and in many cases much later. This is limiting as there is firm evidence that intervention in high-risk infants, as young as 6 months old, significantly improves clinical outcomes.
Objective: This application aims to identify and validate a blood based biomarker signature at birth, to predict which infants are at the highest risk of developing ASD. This will facilitate early intervention and lead to improved outcomes.
Samples: Our study will be based on three internationally collected cohorts of subjects; one used for biomarker discovery (ALSPAC; http://www.bristol.ac.uk/alspac/) and others for validation (BASELINE http://www.baselinestudy.net/ and Aarhus Birth Cohort http://www.ab-biobank.dk/).
Methods: We will use state-of-the-art proteomic and metabolomic methods to profile for ASD biomarkers, in world class facilities at INFANT. We recently undertook the first plasma proteomic profiling study of children from ALSPAC, prior to the development of psychotic disorder, and identified protein changes which are associated with increased risk for later psychiatric outcomes. These results hold great promise for the use of biomarkers in the prediction of childhood onset neurodevelopmental disorders. Our longitudinal study design will assess serum at birth and 7 years from children with known ASD outcomes, and includes samples from similarly complex neurodevelopmental outcomes such as Attention Deficit Hyperactive Disorder (ADHD) and Psychotic Disorder (PD), as clinical controls.
Impact: This project has the potential to transform the care of infants with ASD by facilitating earlier intervention, which leads to improved outcome. We also postulate that the discovery of valid biomarkers for ASD will provide clues into the underlying pathophysiology and lead to more targeted methods for diagnosis.
