Autism Spectrum Traits in Children with Complex Congenital Heart Disease: Phenotype and Neurodevelopmental Comorbidities

Melanie Ehrler, MS

Boston Children’s Hospital – Visiting PhD Student
Ehrler_Melanie poster

Scientific Abstract

Background: Autism spectrum disorders (ASD) is more prevalent in children with congenital heart disease (CHD) compared to the norm population. Even in the absence of an ASD diagnosis, children with CHD are at increased risk for neurodevelopmental and psychiatric morbidities, including impaired social and executive function (EF), as well as anxiety symptoms. This study aims to characterize autism traits in children with CHD and to examine potential comorbidities particularly EF and anxiety symptoms.

Methods: Children with complex CHD (age 7-12 years), who underwent open-heart surgery in infancy and without ASD diagnosis were eligible. Autism traits, anxiety, and EF in everyday life were assessed with parent-reported questionnaires. Working memory (a core domain of EF) and verbal comprehension were assessed with neuropsychological tests. Autism traits were compared to normative data with one-sampled t-tests. A linear regression was modeled with autism traits as outcome. Predictors were anxiety symptoms, EF and working memory, and covariates were age, parental education, having ADHD and verbal comprehension. Clinically relevant comorbidities were descriptively described (i.e., N children scoring ≥1 SD outside normal range).

Results: Fifty-six children with complex CHD (age: M(SD)= 10.8(1.8)) were assessed virtually. Children with CHD showed more autism traits, namely more unusual behavior (P=0.002) and less self-regulation (P=0.018), but better social communication (P=0.014) than the norm. More autism traits were significantly associated with more anxiety (P=0.008) and worse working memory (P=0.003) but not with EF in everyday life (P=0.182). Twenty-one of 22 children, who displayed clinically relevant autism traits, also showed clinically relevant anxiety and/or impaired EF.

Conclusions: Autism traits in children with CHD without an ASD diagnosis are characterized by unusual behavior and lower self-regulation. There is a high risk of co-existing anxiety and impaired EF in children with clinically relevant autism traits. Comorbidity leads to increased disease burden and targeted therapeutic interventions are needed to reduce long-term psychosocial risks in CHD.


SoundCloud Transcript

Thank you very much for your interest in our poster. This data was collected at Boston Children’s Hospital and investigates autism spectrum traits in children with complex congenital heart disease or in short CHD. So, Children with CHD have a higher rate of autism spectrum disorder compared to the normative population. However, even in the absence of a formal autism diagnosis, children with CHD are also at increased risk for neurodevelopmental and neuropsychiatric morbidities including social and executive function impairments and anxiety symptoms. So, our study aimed to investigate and characterize autism spectrum traits in CHD children and also to examine comorbidities of autism spectrum traits, namely lower executive function and more anxiety symptoms.

We included children with complex CHD who underwent open heart surgery within the first year of life. At time of assessment children were between seven and 12 years of age. They were free from any genetic syndrome, autism spectrum disorder diagnosis or intellectual disabilities which might hinder them completing a neuropsychological assessment. Our primary outcome was the autism spectrum rating scale, ASRS, which is a parent-reported questionnaire on autism traits and includes the three dimensions: social communication, unusual behavior and self-regulation. Our secondary outcomes included the BRIEF and the MASC. Those are two parent-reported questionnaires on executive function and anxiety symptoms respectively. And we also assessed subtests of the Wechsler Intelligence Scale for Children, namely the digit span, which is a measure for working memory. This is a core domain of executive function and we also assessed verbal comprehension. This was assessed as a virtual assessment and the parents completed online questionnaires due to the ongoing pandemic.

In the center of the poster, you can see the results and sample characteristics are presented on the upper left corner, on the upper right corner you see the subscales of the ASRS. Interestingly, patients with CHD had better social communication skills in comparison to the norm, but they had more unusual behavior and more difficulties with self-regulation. Investigating comorbidities, we calculated a linear regression model predicting ASRS total score. And we found that ASRS, or more autism spectrum traits, was associated with more anxiety symptoms measured with the MASC-2, and worse working memory, measured with the digit span. There was no association with executive function in everyday life, measured with the BRIEF-2. And when we specifically looked at patients with clinically relevant scores, which you can see in the figure displayed in the lower right corner, we found that actually 22 children scored outside the normal range in at least one sub-scale of the ASRS questionnaire. So, they have some type of autism traits, which were clinically relevant. Of those 22 children, 21 also showed clinically relevant executive dysfunction and/or clinically relevant anxiety symptoms.

We can conclude that children with CHD display more unusual behavior and less self-regulation, but they have good social communication skills. More autism traits were associated with more anxiety symptoms and worse working memory, which is a core domain of executive function. And very importantly also from a clinical perspective, is that there is a high risk of comorbidity since 21 of 22 children with clinically relevant autism traits also showed clinically relevant executive dysfunction and or anxiety symptoms.

Thank you very much for your attention. I’m happy to answer any questions. You can see my contact information on the lower right. Thank you.

research Areas


Melanie Ehrler, MS, David C. Bellinger, PhD, Adam R. Cassidy, PhD, Jane W. Newburger, MD, Johanna Calderon, PhD

Principal Investigator

Johanna Calderon, PhD