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Congenital heart disease (CHD) is the most common birth defect and is associated with significant morbidity and mortality. With advances in medical management and surgical techniques, most individuals with CHD now live into adulthood. Many children and adults with CHD face ongoing medical, developmental, psychological, and psychosocial challenges. Recognizing and mitigating neurodevelopmental abnormalities is an important component of the holistic care of children and adults with CHD. This article outlines the scope of neurodevelopmental abnormalities seen in children and young adults with CHD, individual risk stratification, screening and evaluation recommendations, and emerging strategies to improve neurodevelopmental outcomes. Pediatricians play a central role in identifying high-risk patients and referring for neurodevelopmental evaluation, screening low-risk patients, supporting neuroprotective practices in hospitalized patients, coordinating developmental services, and supporting children and families as they navigate the sequalae of CHD. [Pediatr Ann. 2025;54(2):e52–e56.]
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With improved surgical and medical management of congenital heart disease (CHD), most patients now survive into adulthood. In addition to ongoing physical health problems, children with CHD are at risk for developmental, behavioral, and mental health challenges. This article aims to increase the general pediatrician's understanding of the phenotype of neurodevelopmental impairment in children with CHD, individual risk stratification, current national screening and evaluation guidelines, and targeted intervention strategies to mitigate neurodevelopmental risk.
Neurodevelopmental Outcomes in Children with Congenital Heart Disease
The development of children with CHD can be broadly impacted (Figure 1). For the purposes of this article, we discuss childhood development across 4 overlapping domains: cognitive, motor, language, and social-emotional.
Figure 1. - Phenotype of neurodevelopmental delays and disorders in children with congenital heart disease.
Cognitive Development
Cognitive development encompasses a child's ability to pay attention, learn, problem solve, be creative, think abstractly, and acquire self-care skills. It is key to academic achievement. Studies show that mean intelligence quotient (IQ), a popular metric of intellectual ability, falls in the normal range for children with CHD but is overall 4 to 5 points lower than the normative mean and 7 to 12 points lower in children with single ventricle heart disease.1 In early childhood, children with CHD also exhibit lower cognitive testing scores than the general population.2,3 Low birth weight, genetic predisposition, and lower maternal education level are associated with worse performance. 2,3 Children with CHD have lower executive functioning performance, especially in the areas of problem solving, cognitive flexibility, and verbally mediated skills.4 Children with CHD, particularly those with complex CHD, have worse academic performance and higher utilization of special education programs than their peers without CHD.5,6 Additionally, there are significantly higher rates of attention-deficit/hyperactivity disorder in children with CHD.7
Motor Development
Both gross and fine motor development can be impacted in children with CHD.8 Motor development impairment in children with CHD is evident from a very young age, with even newborns displaying abnormal oral motor and gross motor function.9,10 A large, multi-institutional study of children who underwent cardiac surgery with cardio-pulmonary bypass in infancy found lower developmental testing scores for motor function compared to the general population.2 Children with single ventricle heart disease are at higher risk for abnormal motor development.3,10 Additionally, there is an increased risk of cerebral palsy in children with CHD, especially in those with concurrent pre-term birth.10,11 When compared to patients in the very preterm birth population, who often have similar motor challenges, children with CHD less frequently received therapies, suggesting an under-recognition of the burden of developmental delays and disorders in the CHD population.12
Language Development
Language development involves the acquisition of both the expressive and receptive language skills needed for effective communication. Expressive and receptive language development can be impacted in children with CHD, often influencing interdependent areas of development (eg, social-emotional) and academic performance.8 Children with CHD have difficulty with verbal comprehension and vocabulary acquisition compared to children without CHD.13 Differences in language development can be seen even in children with mild forms of CHD, such as ventricular and atrial septal defects.14,15 Proactive maternal parenting (ie, responding appropriately to anticipated challenges) is a protective factor for language development in children with CHD and potential intervention target.16
Social-Emotional Development
Social-emotional development refers to acquiring the ability to recognize and express emotions, regulate emotions and behavior, understand and respond appropriately to the emotions of others, and build and maintain relationships. Poor language skills can contribute to difficulty with social interaction and worse psychosocial outcome.7,15 Children with CHD can struggle with theory of mind (ie, the ability to understand that others may hold different opinions or beliefs).17 Children may also have more difficulty identifying other's emotions.18 Rates of autism spectrum disorder in children with CHD are twice that of the general population.19 Children at the highest risk of developing autism spectrum disorder are those with early developmental delay.
Internalizing behaviors (eg, anxiety, depression) and externalizing behaviors are common, impacting 25% and 15% of children and adolescents with CHD, respectively.17 Behavioral problems may present in early childhood.17 Children with CHD have higher rates of obsessive-compulsive disorder than their peers without CHD.20 Much of the literature on other mental health comorbidity in CHD focuses on adults. For example, a single-center study reported a 30% positive screen rate for posttraumatic stress disorder among adults with CHD.21 Further investigation is needed to fully understand the burden and breadth of mental health disorders in children with CHD.
Quality of Life Outcomes
Health-related quality of life captures how a patient sees their own physical and mental health. Health-related quality of life is worse in children and young adults with CHD who have undergone surgery.22 Children with cyanotic heart disease, in particular, have lower health-related quality of life scores.20 In children with a Fontan circulation, lower health-related quality of life scores are seen across all domains (eg, physical, psychosocial, emotional, social, school/work), with the largest differences found in physical and school/work functioning.23 CHD impacts the entire family, and parents of children with CHD have also been shown to have increased levels of illness-related stress, which is higher in parents of children with more severe CHD.24
Neuropsychological Outcomes in Adults With Congenital Heart Disease
Developmental, psychosocial, and psychological problems often persist beyond childhood in individuals with CHD and can impact educational attainment, employment, and quality of life.25 Many adults with CHD were not subject to the developmental surveillance and screening programs in place today for children with CHD, placing them at risk for unrecognized and untreated developmental delays and disorders, potentially amplifying the long-term impact of these comorbidities. A registry study of people from North Carolina with CHD found that only 37% of adults age 18 to 64 years were employed.26 Low physical health–related quality of life is reported amongst adult patients with CHD.27 In addition to high rates of presumed posttraumatic distress syndrome, there are significantly higher rates of depression and anxiety in adults with CHD with a lifetime prevalence of psychological disorders up to 35%.28
Neurodevelopmental Risk in Congenital Heart Disease
Factors contributing to individual neurodevelopmental risk in the setting of CHD begin before birth and may continue to accumulate during childhood (Figure 2). The American Heart Association divides individuals with CHD into 3 risk categories.29 Any child who underwent cardiac surgery with cardiopulmonary bypass younger than age 1 year (Category 1) or who has chronic cyanosis (Category 2) is considered high-risk for neurodevelopmental delay and disorder. Children who have a CHD-related hospitalization or cardiac intervention at any point during childhood and do not fall into Categories 1 or 2 (Category 3) are considered low-risk unless they have additional risk factors. Additional risk factors include genetic abnormality associated with neurodevelopmental delay or disorder, decreased cerebral perfusion, preterm birth, perioperative seizures in infancy, brain injury on neuroimaging, prolonged infant hospitalization, cardiopulmonary resuscitation, mechanical support, heart transplantation, low socioeconomic status, parental psychological distress, feeding or growth delays in infancy and toddlerhood, and previous developmental delay.
Figure 2. - Risk factors and findings associated with developmental delay or disorder in congenital heart disease.
Surveillance, Screening, and Evaluation Guidelines for Developmental Delays and Disorders in Congenital Heart Disease
Surveillance of children with CHD is essential to identify those at high risk for developmental delays and disorders. The risk category of each child should be reassessed throughout childhood, as individual risk may evolve. High-risk patients should be promptly referred for developmental evaluation and early intervention (if age appropriate).29 Low- risk patients should be screened per the American Academy of Pediatrics clinical guidelines for general pediatrics.30
Developmental evaluation of high-risk children involves assessment by a qualified neurodevelopmental professional with validated and age-appropriate instruments. Evaluation timepoints and assessment tools are becoming more standardized thanks to the guidance of the Cardiac Neurodevelopmental Outcome Collaborative.29 From birth through age 5 years, evaluation of children at high risk for developmental delays and disorders should occur at key developmental stages (ie, infancy [approximately age 6 months], toddlerhood [approximately age 18 months], pre-school-age [approximately age 3 years], transition to school [approximately age 5 years]) and assess cognitive, language, motor, adaptive, executive function, and social-emotional/behavioral development.29–31 School-age children and adolescents should undergo developmental evaluation at key transition points, including third to fourth grade, start of middle school, start of high school, and transition to adulthood for intellectual function, academic function, attention, executive function, memory, visual-spatial processing, adaptive skills, and social-emotional/behavioral function.29,32
Mitigating Risk and Improving Outcomes for Neurodevelopmental Delay and Disorder in Congenital Heart Disease
While much of the literature from the last 10 to 20 years described neurodevelopmental outcomes in the CHD population and identified risk factors, the focus is shifting to developing and implementing strategies to improve neurodevelopmental outcomes. The standardized surveillance, evaluation, and screening guidelines previously described are part of the push to improve outcomes through early detection of developmental delays and disorders, allowing for early utilization of developmental services to improve outcomes. Many larger centers with CHD surgery programs have built dedicated neurodevelopmental follow-up programs for high-risk children with CHD to improve detection and facilitate management of developmental delays and disorders. However, outside their catchment, the pediatrician plays a critical role in risk surveillance and referral. These programs also often focus on high-risk CHD patients and patients within a limited age group, and thus, ongoing risk surveillance, developmental assessment referral, and screening of many children with CHD falls largely to the pediatrician.
Interventions to improve neurodevelopment by mitigating risk are also beginning to emerge. Parental mental health and parenting skills have been identified as potentially modifiable factors impacting child neurodevelopment, and parent- and family-based interventions are being developed (including for the prenatal period) to promote family well-being and improve child outcomes.33,34 Additionally, developmental care is now recognized as an important component of the management of hospitalized infants with CHD, and the Cardiac Neurodevelopmental Outcome Collaborative has published an evidence-based developmental care pathway to standardize this care.35 The pathway includes infant developmental assessment, parental mental health screening, and daily care practices to promote early development across domains.
Summary
Children with CHD are at risk of delays and disorders across developmental domains. Adults with CHD may face continued neuropsychological challenges. Individual risk is multifactorial and may evolve during childhood with the medical course. It is important to identify children at high risk for adverse neurodevelopmental outcomes early in order to ensure effective evaluation and management. Infants with CHD often face lengthy hospital stays, and interventions to optimize developmental outcomes should be implemented routinely throughout these hospitalizations. Continued development and evaluation of strategies to improve neurodevelopmental outcomes in children with CHD is critical. Collaborative and larger cohort studies, such as those orchestrated through the Cardiac Neurodevelopmental Outcome Collaborative, will hopefully lead to further evidence-based interventions and best practice guidelines for developmental care for children and adults with CHD.
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From Department of Pediatrics, Division of Pediatric Cardiology, Duke University, School of Medicine, Durham, North Carolina.
Funding: This work was supported by the National Heart, Lung, and Blood Institute of the National Institutes of Health Postdoctoral Training in Cardiovascular Clinical Research Award (5T32HL069749) and National Heart, Lung, and Blood Institute of the National Institutes of Health (R38HL143612), paid to Duke University, School of Medicine.
Disclosure: The authors have disclosed no potential conflicts of interest, financial or otherwise.
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