Project Summary

Congenital heart disease (CHD) is an abnormality of the heart that patients are born with, and it is the most common birth defect, occurring in about one in 100 births. Because of better medical and surgical care, adults with CHD are an increasing part of the population. Some studies have suggested up to a third of patients may have some underlying neurodevelopmental disorder (NDD), like attention deficit disorder, autism or other conditions that might be associated with genetic issues like Down syndrome. Often, these patients are excluded from research because they cannot complete the study on their own. Because of this, the information available to patients and their caretakers on best treatments and long-term outcomes is lacking. 

The objectives are to examine how research studies can be designed so that patients with NDD might be able to participate. The research team plans to work with patients and their parents/caretakers. The researchers will use some of the strategies that were used in the design of the Congenital Heart Initiative, the first patient-powered registry for adults with CHD. The registry has enrolled over 4,400 patients, but most patients with NDD are not able to participate because they are unable to fill out the surveys by themselves. The study team intends to ask patients and their parents how this can be fixed, so that information about all adult CHD patients may be gathered. 

Our aims are the following: 

  1. Redesign how patients are involved in the study process so that CHD patients with NDD and their parents/caretakers are included. The study team will ask them what they would need to participate in the Congenital Heart Initiative (CHI), and how the CHI can be changed to make it possible for them to complete the study.
  2. Change the CHI study so that it is more accessible to all CHD patients, including those with NDD. The study team will use a method called human-centered design (HCD). HCD has been used by companies to design products by engaging customers and listening to their input to come up with solutions. HCD can also be used in research as it helps to identify problems and create solutions by prioritizing the patient voice through:
    1. Listening to patient needs and identifying the root causes for underlying beliefs and attitudes.
    2. Awareness of researcher’s biases and judgements.
    3. Inclusivity of multiple perspectives.
    4. Flexibility and adaptability to changes needed in the overall plan.

HCD will allow the team to generate activities for patients and their parents to do, such as drawing a diagram of their experiences with the healthcare system. The study team can then look at those drawings and find themes that emerge. There are many different types of activities that can be created through HCD. In addition, the study team will also meet with patients and families in addition to asking opinions through a virtual online chat board about their experiences with research. 

The results of the study can be used both by researchers on how to design their projects to include patients with NDD, and by patients/families to learn more about what to expect and ask for when participating in research. The study team will recruit patients above 18 years of age with CHD and NDD in addition to their parents/caretakers.

The study team hopes the results of the study will be used by researchers in different specialties beyond CHD who work with patients with NDD. The study team will compare the results between patients and/or parents of patients with CHD and NDD to patients and/or parents of patients with CHD only. 

The study team will primarily look at how meaningful the process is for patients and families. This will be assessed through survey tools that have been used in similar studies and through talking to families and patients about their opinions. 

There will also be an online chat board where participants can leave their comments about the study. The study team will look at the recruitment rates for the new CHI study second and compare that to how many patients were able to be recruited prior to making the changes. For the entire study, the team will work with their patient advocacy partners, the Adult Congenital Heart Association, The Mended Hearts, inc., and Alliance for Genetic Etiologies in Neurodevelopmental Disorders and Autism (AGENDA).

Project Information

Anitha John, M.D., Ph.D.
William Bennett, M.D.
Children's Research Institute
$2,133,691 *

Key Dates

36 months *
April 2024

*All proposed projects, including requested budgets and project periods, are approved subject to a programmatic and budget review by PCORI staff and the negotiation of a formal award contract.


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Last updated: April 23, 2024