Early autism screening and diagnosis for infants with genetic risk
Core C: Assessment Core
This project follows babies found to have genetic risk for autism to find early signs and support families with screening and diagnosis by 18–24 months.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Columbia University Health Sciences NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-11176978 on NIH RePORTER |
What this research studies
If your baby is identified through newborn genome screening as having genetic variants linked to autism, researchers will invite you to join a group of 240 high-risk infants plus 120 comparison infants without identified risk. The team will do developmental and biological checks over time, screen every child at 18 months, and offer a full diagnostic visit at 24 months for those in the high-risk group. The project also looks at how getting genetic risk information affects parents' stress, decisions, and use of services. Some work uses existing genomic datasets to define which infants are considered high-risk.
Who could benefit from this research
Good fit: Infants identified through newborn genome screening as having genetic variants linked to higher autism risk (and a comparison group without such variants), with families willing to attend follow-up visits and questionnaires.
Not a fit: Babies without identified genetic risk, or families unable or unwilling to take part in the scheduled follow-up visits, may not receive direct benefit from this project.
Why it matters
Potential benefit: If successful, this work could lead to earlier, more accurate autism diagnoses and better support for families who learn about genetic risk at birth.
How similar studies have performed: Previous work on newborn genomic screening and early developmental follow-up has shown promise in finding at-risk children, but combining newborn genetic identification with longitudinal biomarker tracking and parental decision-making research is relatively new.
Where this research is happening
New York, United States
- Columbia University Health Sciences — New York, United States (Active)
Researchers
- Principal investigator: Kanne, Stephen M — Columbia University Health Sciences
- Study coordinator: Kanne, Stephen M
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.