Related Experiment Video
Updated: Mar 6, 2026

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods
Published on: March 10, 2020
Rates of autism and potential risk factors in children with congenital heart defects
Jessica L Bean Jaworski1, Thomas Flynn1, Nancy Burnham1
1Cardiothoracic Surgery, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvainia, USA.
Insights
Children with congenital heart defects have a higher risk of autism spectrum disorder (ASD). Medical, behavioral, and individual factors are associated with this increased risk, necessitating specialized screening.
Area of Science:
- Pediatric Cardiology
- Developmental Pediatrics
- Neurodevelopmental Disorders
Background:
- Congenital heart defects (CHDs) are linked to developmental and behavioral challenges.
- Language and social-cognitive deficits in children with CHDs overlap with autism spectrum disorder (ASD) symptoms.
Purpose of the Study:
- To determine the prevalence of ASD in a large cohort of children with CHDs.
- To identify medical, behavioral, and individual risk factors for ASD in this population.
Main Methods:
- A longitudinal study followed 195 children with CHDs.
- Data included neurodevelopmental evaluations at age 4 and parent-report data.
Main Results:
- Children with CHDs exhibited higher rates of "possible" autism spectrum disorder compared to national averages.
- Medical factors (e.g., prematurity, genetic findings), behavioral issues (cognitive, language, attention), and individual variables (socioeconomic, cultural/racial) predicted ASD risk.
- A parent-reported diagnosis cutoff of 7 maximized sensitivity and specificity.
Conclusions:
- The risk for ASD screening status is elevated in children with CHDs.
- Specialist assessment for social-communication deficits is crucial.
- Population-specific screening thresholds for ASD in children with CHDs are recommended.
Objective:
Atypical development, behavioral difficulties, and academic underachievement are common morbidities in children with a history of congenital heart defects and impact quality of life. Language and social-cognitive deficits have been described, which are associated with autism spectrum disorders. The current study aimed to assess the rates of autism spectrum disorders in a large sample of children with a history of congenital heart defects and to assess medical, behavioral, and individual factors that may be associated with the risk of autism spectrum disorders.
Design:
Participants included 195 children with a history of congenital heart defects, who are followed in a large-scale longitudinal study. Measures included behavioral data from 4-year-old neurodevelopmental evaluations and parent-report data from a later annual follow-up.
Results:
Using established cutoffs on an autism spectrum disorder screener, children with congenital heart defects showed higher rates of "possible" autism spectrum disorders than national rates, (Chi-square Test of Equal Proportions), all Ps < .05. A stepwise variable selection method was used to create a "best prediction model" and multivariable logistic regression was used to identify variables predicting diagnostic status. Factors associated with diagnostic risk included medical (delayed sternal closure, prematurity, positive genetic findings), behavioral (cognitive, language, attention issues), and individual (socioeconomic, cultural/racial) variables. ROC analyses identified a cutoff of 7 to maximize sensitivity/specificity based on parent-reported diagnosis.
Conclusions:
Risk of autism spectrum disorder screening status in children with congenital heart defects was higher than expected from population rates. Findings highlight the need for referral to a specialist to assess the presence and severity of social-communication issues and congenital heart defects population-specific screening thresholds for children with concern for autism spectrum disorders.
Related Concept Videos
Autism Spectrum Disorder
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
Attention-Deficit/Hyperactivity Disorder
Diagnostic Criteria and Symptoms
To diagnose ADHD, symptoms must manifest before age 12 and be evident across multiple settings....
Heart Failure I: Introduction
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Coronary Artery Disease I: Introduction
Factors Influencing Heart Rate
Let us explore the significant factors affecting heart rate, including age, body temperature, posture, acute pain, chemical influences,...

