Approximately 400 Congenital heart disease patients will participate in the research study which will include one or more research visits for neurodevelopmental testing, brain MRI, and collection of medical history including previously collected genetic sequencing results. The investigators will explore the association between genetic variants, neurodevelopmental deficits, and brain MRI endophenotype. Analyses will compare groups with and without deleterious de novo mutations.
Study Type
OBSERVATIONAL
Enrollment
196
Brain MRI will be conducted in all participants
neurodevelopmental testing will be conducted in all participants.
Children's Hospital Los Angeles
Los Angeles, California, United States
University of California, San Francisco
San Francisco, California, United States
Yale University
New Haven, Connecticut, United States
Children's Hospital Boston
Boston, Massachusetts, United States
Neurodevelopment and behavioral health assessment
The investigators will compare groups with respect to achievement, IQ, learning disability, specific neuropsychological domains (e.g., memory, attention, executive functions, and visual-spatial/motor integration), adaptive function, behavior, social cognition and symptoms of autism spectrum disorder, and quality of life. The primary study outcome for this aim will be the WRAT4 composite score.
Time frame: Day 1
Abnormalities in brain structure and microstructure on MRI
The investigators will compare the groups with respect to measured and derived parameters including, but not limited to, 1) regional volumetric and cortical thickness, 2) regional surface metrics, 3) voxel-based DTI eigenvectors and apparent diffusion coefficient (ADC) values, and resting state principal component analysis
Time frame: Day 1
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Icahn School of Medicine at Mt. Sinai
New York, New York, United States
University of Rochester
Rochester, New York, United States
Children's Hospital Philadelphia
Philadelphia, Pennsylvania, United States
University of Utah
Salt Lake City, Utah, United States