Rationale and Methods for the Prospective Genetic Risk Evaluation and Assessment (PROGRESS) in Autism Center at...

Area of Science:

• Neurodevelopmental disorders
• Genetics
• Pediatric medicine

Background:

• Autism is typically diagnosed after age 3, but early signs appear within the first two years.
• Genetic and familial risk factors for autism can be identified at birth.

Purpose of the Study:

• To characterize early developmental trajectories in infants at varying genetic risk for autism.
• To evaluate the impact of providing early genetic information to families.
• To establish a framework for ethical genomic screening and early intervention.

Main Methods:

• The Prospective Genetic Risk Evaluation and Assessment (PROGRESS) in Autism Center is a longitudinal cohort study (2022-2029).
• Infants are followed from 3 to 24 months, categorized by genetic probability (IGP, Baby Siblings, NGP).
• Assessments include EEG, eye tracking, developmental testing, and caregiver reports; autism screening at 18 months, diagnosis at 24 months.

Main Results:

• Infants are grouped based on genomic screening results and familial likelihood.
• Comprehensive assessments track neurodevelopmental trajectories from 3 to 24 months.
• Caregiver experiences with genetic information are gathered through surveys and interviews.

Conclusions:

• Integrating genetic probability with early neurobehavioral development and family experiences is key.
• The PROGRESS study provides a framework for ethical genomic screening and developmental monitoring.
• This research supports timely access to early intervention services facilitated by family navigators.