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Published on: April 22, 2015

Autism screening and diagnosis in children with congenital heart disease

Nuria Lisset Ontiveros Perez1, Pamela M Rios1, Virginia A Marchman1,2

  • 1Department of Pediatrics, Stanford University School of Medicine, Palo Alto, CA, United States.

Frontiers in Pediatrics
|July 1, 2026
PubMed

Insights

Children with congenital heart disease (CHD) show over three times higher rates of positive autism screens and diagnoses. Early autism screening is crucial for timely intervention in this population.

Area of Science:

  • Pediatric Cardiology
  • Developmental Pediatrics
  • Autism Spectrum Disorder Research

Background:

  • Congenital heart disease (CHD) affects neurodevelopmental outcomes.
  • Early identification of developmental delays is critical for intervention in infants with CHD.

Purpose of the Study:

  • To determine the prevalence of positive autism screening results and autism diagnoses in children with CHD.
  • To identify factors associated with autism screening results and diagnosis in this cohort.

Main Methods:

  • Secondary analysis of electronic health records from a specialized infant follow-up program.
  • Included 94 children with CHD who underwent surgery and had a High-Risk Infant Follow-Up visit between 18-30 months.
  • Utilized the Modified Checklist for Autism-Revised/Follow-up (M-CHAT-R/F) for screening and autism diagnostic codes for diagnosis.

Main Results:

  • Prevalence of positive autism screens was 14.6%, and autism diagnosis was 11.7%.
  • Younger age was associated with positive autism screens.
  • Public insurance use and higher Risk Stratification for Congenital Heart Surgery-2 scores correlated with autism diagnosis.

Conclusions:

  • Children with CHD are significantly more likely to screen positive for autism and receive an autism diagnosis compared to the general population.
  • Emphasizes the critical need for early autism screening in children with CHD to facilitate prompt diagnosis and intervention.
  • Highlights the M-CHAT-R/F's performance metrics (sensitivity 66%, PPV 57%) in this specific population.
Abstract

Keywords:
M-CHAT-R/Fautismautism riskcongenital heart diseasepublic health

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