Studying the Genetic Links Between Autism and Congenital Heart Disease

Cardiology and neurodevelopmental researchers at Boston Children’s Hospital are conducting a study to explore the genetic connection between congenital heart disease (CHD) and autism spectrum disorder (ASD). The aim is to identify any genes that may cause both conditions and gain a better understanding of the potential genetic link. By doing so, targeted treatments could be developed, and families would be able to obtain more information about the underlying genetic basis of their child’s health.

Research has previously shown a strong association between CHD and neurodevelopmental delays, with many children experiencing challenges in areas such as communication, eating, mobility, schoolwork, and focus. However, little is known about the specific genetic connection between CHD and ASD, despite studies indicating a 33% increased likelihood of ASD diagnosis in individuals with CHD.

The study at Boston Children’s Hospital will include children with neurodevelopmental disorders and mild CHD, as well as those with severe CHD and ASD. This approach recognizes that variants in the same gene can contribute to various neurodevelopmental presentations, such as intellectual disability or epilepsy. Additionally, children with more minor structural changes to their hearts can also experience neurodevelopmental issues.

The researchers aim to gain a comprehensive understanding of the complex genetic mechanisms involved in both cardiovascular health and neurodevelopment, rather than focusing solely on specific “heart genes” or “brain genes.” They will also take into account the medical histories of the participants, as some children may have had complicated pasts involving intensive care and operations. The study seeks to determine whether there are genetic mechanisms or variants that make a child more susceptible to developing autism.

The ultimate goal of the study is not only to make research discoveries but also to provide answers to families affected by these conditions. A specific genetic diagnosis can have a significant impact on medical management and treatment decisions for the entire family. By participating in the study, families can contribute to advancements in understanding and potentially improve the prognosis and quality of life for their children.

For more information or to participate in the study, interested individuals can reach out to [email protected] or contact the Center for Cardiovascular Genetics at Boston Children’s Hospital.

Sources:
– Boston Children’s Hospital