Autism spectrum disorder and congenital heart disease: a narrative review of the literature

Abstract

AbstractIndividuals born with congenital heart disease (CHD) are at an increased risk of developing neurodevelopmental disorders. Despite this, studies are limited in their investigation of autism spectrum disorder in the context of CHD. This review provides an overview of the literature examining autism spectrum disorder in CHD and discusses strengths, limitations, and future directions. Recent efforts have been made to extrapolate the association between CHD and symptoms of autism. Findings suggest that the core features of autism spectrum disorder are also implicated in children with CHD, namely social-cognitive weaknesses, pragmatic language differences, and social problems. Compared to norm-referenced samples, separate studies have identified divergent and overlapping neuropsychological profiles among both patient groups, yet there are no studies directly comparing the two groups. There is emerging evidence of prevalence rates of autism diagnosis in CHD showing an increased odds of having autism spectrum disorder among children with CHD relative to the general population or matched controls. There also appears to be genetic links to this overlap, with several genes identified as being tied to both CHD and autism. Together, research points to potentially shared underlying mechanisms contributing to the pathophysiology of neurodevelopmental, neuropsychological, and clinical traits in CHD and autism spectrum disorder. Future investigation delineating profiles across these patient populations can fill a significant gap in the literature and aid in treatment approaches to improve clinical outcomes.