Biomarker discovery and validation in autism spectrum disorder: A study of neonatal cord blood in international birth cohorts

What is Autism? Autism spectrum disorder (ASD) is a complex disorder of brain development. ASD is characterized by difficulties in social interaction, verbal and nonverbal communication and repetitive behaviours. ASD begins in infancy and persists into adolescence and adulthood. ASD imposes significant emotional and economic burdens on affected people and their families. Research suggests that early diagnosis (at or before 6 months of age) and targeted intervention improves outcomes. However, most children with ASD are diagnosed at an age when early intervention is no longer maximally effective.

What we plan to do? In this study we will examine the levels of small molecules in blood samples collected at birth from children and young adults later diagnosed with autism. We will compare the levels of these molecules (proteins and metabolites) from children with ASD to the levels in blood samples from children without ASD. This will tell us which molecules differ in infants who later progress to ASD, and together these molecules act like a "fingerprint" which will help us identify which infants are at the highest risk of developing the disorder as early as possible to facilitate early intervention.

Gaps in our knowledge: There have been no studies investigating changes of proteins or metabolites in blood at birth from children who later develop ASD.

What impact will this research have on children with ASD and their families? The early diagnosis of ASD is an area of significant unmet clinical need. This study will help pinpoint markers in blood at birth to predict ASD outcome and has the potential to provide valuable clues into our understanding of the disease origins. Most importantly, this study will facilitate the earliest possible intervention and lead to a significant improvement in outcome and quality of life for children with ASD and their families.

Award Date
04 July 2017
Award Value
€799,958
Principal Investigator
Dr Jane English
Host Institution
University College Cork
Scheme
Emerging Investigator Awards