Project 3: Developmental trajectories in infants at genetic risk for autism

PROJECT SUMMARY
Genetic screening can now identify risk variants before the emergence of behavioral symptoms of autism. This
advance affords opportunity for presymptomatic intervention in infants whose developmental trajectories indicate
early deviation from typical patterns. To our knowledge, no prior study has examined whether the combination
of genetic screening and precise trajectories of early neurodevelopmental pathways might enable earlier
diagnosis in infants with identified genetic risk for autism. Based on this significant knowledge gap, Project 3
proposes to longitudinally assess neurodevelopment every 3 months when infants are 3 to 15 months of age.
The PROGRESS cohort will include a final sample of N = 300 infants: N = 200 in the Identified Genetic Risk
(IGR) group and N = 100 gestational age, sex, race/ethnicity, language, and zip code-matched control infants
without Identified Genetic Risk (non-IGR). We will examine developmental trajectories of autonomic nervous
system and neural function (Aim 1), information-gathering perception and action systems (Aim 2: visual, auditory,
multisensory, motor), and social development and language/communication (Aim 3) to determine if and when
these trajectories deviate across genetic risk groups. Being situated in the PROGRESS Center allows us to
combine measures across multiple levels of analysis (Aim 4) including genetic risk (Project 1), parental
experience and self-efficacy (Project 2), trajectories of neurodevelopment (Project 3), and diagnostic outcomes
(Assessment Core). We pair this innovative design with sophisticated statistical modeling techniques (Statistical
and Computational Analysis Core) to elucidate developmental mechanisms and to enable earlier diagnosis in
infants at identified genetic risk for autism. We will partner with the Dissemination and Outreach Core to share
emerging knowledge and to provide parents with appropriate support and linkage to early intervention services.
In summary, Project 3 leverages a representative sampling strategy in a diverse large city, a large sample size
paired with dense longitudinal assessments, and a multidisciplinary team science approach, to characterize
neurobehavioral trajectories in infants at identified genetic risk of autism.

Grant Number: 5P50HD109879-04
NIH Institute/Center: NIH
Principal Investigator: DIMA AMSO