Autism screening and diagnosis in children with congenital heart disease - Report - MDSpire

Autism screening and diagnosis in children with congenital heart disease

  • By

  • Nuria Lisset Ontiveros Perez

  • Pamela M. Rios

  • Virginia A. Marchman

  • Ramkumar Aishworiya

  • Stella Firth Wang

  • Heidi M. Feldman

  • June 16, 2026

  • 0 min

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Clinical Report: Evaluating Autism Screening and Diagnosis in Pediatric Patients with Congenital Heart Defects

Overview

This study found that 14.6% of children with congenital heart defects (CHD) screened positive for autism, with an 11.7% autism diagnosis rate. Younger age and public insurance were associated with positive autism screens.

Background

Congenital heart disease (CHD) is the most common congenital anomaly in children, affecting 1-2% of live births in the U.S. Children with CHD are at a higher risk for neurodevelopmental disorders, including autism, compared to the general population. Early identification and intervention for autism in this vulnerable group are critical for improving developmental outcomes.

Data Highlights

OutcomePercentage
Positive autism screens14.6%
Autism diagnosis11.7%
Sensitivity of M-CHAT-R/F66%
Positive predictive value of M-CHAT-R/F57%

Key Findings

  • 14.6% prevalence of positive autism screens in children with CHD.
  • 11.7% prevalence of autism diagnosis among the same cohort.
  • Younger age was associated with positive autism screens.
  • Children with autism had higher use of public insurance.
  • Risk Stratification for Congenital Heart Surgery-2 scores were higher in children with autism.

Clinical Implications

Routine autism screening using tools like M-CHAT-R/F is essential for children with CHD, particularly between 18-30 months of age. Clinicians should be aware of the increased likelihood of autism in this population to facilitate timely referrals for further evaluation.

Conclusion

Children with CHD are significantly more likely to have positive autism screens and diagnoses compared to the general population, highlighting the need for early screening and intervention.

Related Resources & Content

  1. Author(s)/Org, Source, Year -- Title
  2. Pediatric Cardiology, 2023 -- Electrocardiographic Findings in 438 Neonates Diagnosed with Atrial Septal Defects
  3. JAMA Network Open, 2023 -- Innovation to Improve Detection of Early Developmental and Behavioral Concerns
  4. American College of Cardiology, 2024 -- Neurodevelopmental Outcomes in Congenital Heart Disease: Key Points
  5. CDC, 2023 -- Clinical Screening for Autism Spectrum Disorder
  6. Pediatric Cardiology — Atrial Septal Defect: Increased Right Ventricular Size and Atrial Volume Observed Within the First Month of Life—A Case-Control Analysis of 716 Neonates
  7. CDC's Community Report on Autism
  8. Clinical Registry | Cardiac Neurodevelopmental Outcome Collaborative
  9. Clinical Screening for Autism Spectrum Disorder | Autism Spectrum Disorder (ASD) | CDC
  10. Neurodevelopmental Outcomes in Congenital Heart Disease: Key Points - American College of Cardiology
  11. Neurodevelopment in congenital heart disease: a review of antenatal mechanisms and therapeutic potentials | Pediatric Research
  12. https://professional.heart.org/-/media/phd-files-2/science-news/2/2025-heart-and-stroke-stat-update/factsheets/2025-stats-update-fact-sheet-children-and-cvd.pdf

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