Congenital heart disease and autism: a possible link? – Harvard Health Blog

Children born with congenital heart disease (CHD) now survive at extremely high rates; for most, their life expectancy can be comparable to that of the general population. Despite the great progress in medical and surgical care, many people with CHD experience long-term neurological problems. These include problems with attention and skills of executive functions, learning challenges and in some cases lower than normal IQs.

Study connects congenital heart disease and autism

A recent study published in the journal Pediatrics provides convincing evidence that there may also be a link between CHD and autism spectrum disorder (ASD). This large, case-control study is one of the first to confirm that people with CHD are about 33% more likely to be diagnosed with ASD. This is true even after considering other factors that are known to increase the risk of autism, including genetic syndromes, prematurity and neonatal complications such as epilepsy or insufficient oxygen at birth.

One of the most interesting findings from this study was that the risks of ASD were highest in children with less critical forms of CHD, such as atrial septal defects and ventricular septal defects, although children with more complex types of CHD also had increased risks. As we noted in an editorial to the Pediatric article, these and other similar studies (such as this, this and this) raise more questions than answers. For example: How can we explain this association? Why do some subgroups of people with CHD appear to be at greater risk than others? What can caregivers do about it?

What is the connection between CHD and autism?

For decades, research has shown the link between CHD and neurological impairment in children. Most studies have suggested that the results are generally worse for people with more severe forms of CHD who require cardiac surgery in the first year of life, and for people with co-existing genetic syndromes. These findings suggest that there may be shared genetic pathways that affect the development of the heart and brain, but are expressed in different ways (for example, ASD and / or CHD). Further research into the relationship between genes and their behavioral expression in CHD and autism will help us to understand this link.

In addition, children with CHD – especially children with more serious heart conditions who undergo heart surgery during childhood – are also exposed to changes in brain maturation and are vulnerable to early brain damage due to a changed blood flow in the brain that occurs in the womb, as well as before and after the operation. There are indications that these brain damage can damage the white dust fibers that are the ‘metro’ of the brain, connecting parts of the brain and transferring information between them. These early neurological injuries can affect brain systems that are essential for development and learning, and can also give children with CHD an increased risk of developing the atypical behavior observed in autism disorders.

Even if the criteria for a formal diagnosis of ASD are not met, many people with CHD exhibit some degree of social disability, including problems with understanding facial expressions, or being able to place themselves in someone else’s shoes (referred to as “theory”) of the mind ”). Research has shown that in many cases these social challenges are part of a broader profile of underlying disorders in the executive function, including rigid ways of thinking, rigid compliance with routines and difficulties in managing transitions.

Guidelines recommend an early evaluation and treatment

This and other studies raise awareness about the critical need to screen for ASD functions in children with CHD as early as possible. The American Heart Association and the American Academy of Pediatrics have provided guidelines for routine neurological evaluation and treatment of children, adolescents, and adults with CHD. Identification of early symptoms related to autism should be done after 18 months or when there is a problem, with periodic checks at critical moments, including school input and pre-readiness. This can be done at a multidisciplinary clinic that provides developmental care to young children with CHD and their families (the Cardiac Neurodevelopmental Program at Boston Children’s Hospital was one of the first of these types of programs), or by a child psychologist, child neurologist or neuropsychologist in the community .

Once atypical behavior has been identified, rapid interventions to promote social communication, positive parent-child interaction and social behavior can be initiated through early intervention or other internal or community based agencies. Given the degree of variability in the behavioral profiles of children with ASD, these programs must be adapted to the needs of each individual and may include interventions such as applied behavioral analysis (ABA), occupational therapy or speech therapy. We believe that a proactive approach will lead to improved development trajectories and a better quality of life for people with CHD and their families.


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