Background
Congenital heart disease is a wide category of structural and functional heart abnormalities present at birth, including defects in the cardiac muscle, septa, valves, arteries, or veins. Patients with congenital heart disease are at an increased risk of developing adverse neurodevelopmental outcomes.
Aim of review
The purpose of this article is to review developmental screening and evaluation along with neurodevelopmental outcomes associated with congenital heart disease, including risk factors and genetic syndromes.
Key scientific concepts of review
Congenital heart disease is associated with adverse neurodevelopmental outcomes in various domains, including motor, language, cognitive, and academic abilities. Risk factors for neurodevelopmental delay may include abnormal fetal oxygen delivery, prematurity, low birth weight, cyanosis, surgical intervention, and genetic factors. Genetic syndromes associated with congenital heart disease and neurodevelopmental disabilities include Down (trisomy 21), Turner, 22q11.2 deletion, Williams, CHARGE, Noonan, Alagille, and Kabuki syndromes. Developmental screening with a standardized tool may identify the risk of abnormal development. All children receive general developmental screening at the 9-, 18-, and 30-month visits and autism-specific screening at 18- and 24-month visits. General developmental screening tests address multiple developmental domains, whereas other screening tests may focus on specific conditions such as autism or developmental domains, including speech and language. Developmental evaluation with standardized testing and rating scales by a qualified professional is recommended for children with congenital heart disease who are at high risk of neurodevelopmental sequelae. Clinical practice in cardiac developmental centers is highly varied, with most resources used for evaluation of children between birth and age 5 years. The need for early therapeutic intervention for high-risk pediatric patients with congenital heart disease supports early referral for evaluation and treatment. In high-risk school-aged patients, developmental evaluation may improve access to academic services, an individualized education plan, small group academic instruction, and instructional supports.